format-version: 1.2 date: 10:03:2011 18:06 auto-generated-by: OBO-Edit 2.1-beta6 subsetdef: secondary_consequence "Consequence of a disorder in another organ system." default-namespace: file:D:/LatestOBO-2/human-phenotype-ontology.obo [Term] id: HP:0000001 name: All namespace: medical_genetics comment: Root of all terms in the Human Phenotype Ontology. [Term] id: HP:0000002 name: Abnormality of body height namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0005890 xref: UMLS:C1704258 is_a: HP:0001507 ! Growth abnormality created_by: peter creation_date: 2008-02-27T02:20:00Z [Term] id: HP:0000003 name: Multicystic kidney dysplasia namespace: medical_genetics 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 kindeys 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: UMLS:C0345335 is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000004 name: Onset and clinical course namespace: medical_genetics comment: Age of onset of clinical signs and symptoms. xref: UMLS:C0332162 xref: UMLS:C0449259 is_a: HP:0000001 ! All [Term] id: HP:0000005 name: Mode of inheritance namespace: medical_genetics 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 [] xref: UMLS:C0242538 xref: UMLS:C0439064 xref: UMLS:C0728826 xref: UMLS:C1708726 is_a: HP:0000001 ! All [Term] id: HP:0000006 name: Autosomal dominant inheritance namespace: medical_genetics alt_id: HP:0001415 alt_id: HP:0001447 alt_id: HP:0001448 alt_id: HP:0001456 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 [] xref: UMLS:C0443147 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0000007 name: Autosomal recessive inheritance namespace: medical_genetics 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 predisposition" RELATED [] xref: UMLS:C0012655 xref: UMLS:C0220898 xref: UMLS:C0441748 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0000008 name: Abnormality of female internal genitalia namespace: medical_genetics def: "An abnormality of the `female internal genitalia` (FMA:45654)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0227748 xref: UMLS:C1704258 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010460 ! Abnormality of the female genitalia [Term] id: HP:0000009 name: Functional abnormality of the bladder namespace: medical_genetics alt_id: HP:0008731 def: "A functional abnormality of the `urinary bladder` (FMA:15900)." [HPO:probinson] synonym: "Poor bladder function" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0005682 xref: UMLS:C0205245 xref: UMLS:C0542341 xref: UMLS:C1281573 xref: UMLS:C1704258 xref: UMLS:C1848145 is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0000010 name: Recurrent urinary tract infections namespace: medical_genetics def: "Repeated infections of the urinary tract." [HPO:curators] synonym: "Frequent urinary tract infections" EXACT [] xref: UMLS:C0042029 xref: UMLS:C0262655 xref: UMLS:C0332183 is_a: HP:0002719 ! Recurrent infections is_a: HP:0100577 ! Urinary bladder inflammation [Term] id: HP:0000011 name: Neurogenic bladder namespace: medical_genetics def: "An inability to completely empty the `urinary bladder` (FMA:15900) during the process of `urination` (GO:0060073) owing to a neurological condition." [HPO:probinson] xref: UMLS:C0005697 xref: UMLS:C0007459 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000012 name: Urinary urgency namespace: medical_genetics 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 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000013 name: Hypoplasia of the uterus namespace: medical_genetics alt_id: HP:0001154 def: "Underdevelopment of the `uterus` (FMA:17558)." [HPO:probinson] synonym: "Hypoplastic uterus" EXACT [] synonym: "Rudimentary uterus" EXACT [] xref: UMLS:C1406390 xref: UMLS:C1836183 is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus [Term] id: HP:0000014 name: Abnormality of the bladder namespace: medical_genetics def: "An abnormality of the `urinary bladder` (FMA:15900)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0005682 xref: UMLS:C1281573 xref: UMLS:C1704258 is_a: HP:0010936 ! Abnormality of the lower urinary tract [Term] id: HP:0000015 name: Bladder diverticula namespace: medical_genetics def: "The presence of one or more `diverticula` (MPATH:68) (sac or pouch) in the `wall of the urinary bladder` (FMA:15902)." [HPO:probinson] xref: UMLS:C0156273 is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0000016 name: Urinary retention namespace: medical_genetics def: "Inability to completely empty the `urinary bladder` (FMA:15900) during the process of `urination` (GO:0060073)." [HPO:probinson] comment: Urinary retention is the inability of the urinary bladder to empty. The cause may be neurologic or nonneurologic. xref: UMLS:C0080274 xref: UMLS:C2364044 is_a: HP:0000009 ! Functional abnormality of the bladder is_a: HP:0000082 ! Abnormality of renal physiology [Term] id: HP:0000017 name: Nocturia namespace: medical_genetics def: "Abnormaly 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: UMLS:C0028734 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000018 name: Sphincter disturbance namespace: medical_genetics synonym: "Sphincter disturbances" EXACT [] xref: UMLS:C1843663 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000019 name: Urinary hesitancy namespace: medical_genetics def: "Difficulty in beginning the process of `urination` (GO:0060073)." [HPO:probinson] xref: UMLS:C0152032 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000020 name: Urinary incontinence namespace: medical_genetics alt_id: HP:0008681 def: "Loss of the ability to control the `urinary bladder` (FMA:15900) leading to involuntary `urination` (GO:0060073)." [HPO:sdoelken, pmid:12559262] comment: Urinary incontinence can be defined as the complaint of any involuntary leakage of urine. synonym: "Bladder incontinence" EXACT [] synonym: "Incontinence" EXACT [] synonym: "Mild urinary incontinence" EXACT [] xref: UMLS:C0021167 xref: UMLS:C0042024 xref: UMLS:C0547040 xref: UMLS:C1962973 is_a: HP:0007147 ! Urinary or fecal incontinence [Term] id: HP:0000021 name: Lower urinary tract dilatation namespace: medical_genetics alt_id: HP:0002838 def: "Dilatation of the `lower urinary tract` (FMA:45659)." [HPO:probinson] synonym: "Lower urinary tract dilatation may occur over time" EXACT [] xref: UMLS:C0012356 xref: UMLS:C0012359 xref: UMLS:C0040223 xref: UMLS:C0729866 xref: UMLS:C1269030 xref: UMLS:C1709305 is_a: HP:0010936 ! Abnormality of the lower urinary tract [Term] id: HP:0000022 name: Abnormality of male internal genitalia namespace: medical_genetics def: "An abnormality of the `male internal genitalia` (FMA:45655)." [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. xref: UMLS:C0000768 xref: UMLS:C0227923 xref: UMLS:C1704258 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010461 ! Abnormality of the male genitalia [Term] id: HP:0000023 name: Inguinal hernia namespace: medical_genetics synonym: "Inguinal hernias" EXACT [] xref: UMLS:C0019294 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0000024 name: Prostatitis namespace: medical_genetics def: "The presence of `inflammation` (MPATH:212) of the `prostate` (FMA:9600)." [HPO:probinson] xref: UMLS:C0033581 is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0000025 name: Functional abnormality of male internal genitalia namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0205245 xref: UMLS:C0227923 xref: UMLS:C0542341 xref: UMLS:C1704258 is_a: HP:0000080 ! Genital functional abnormality [Term] id: HP:0000026 name: Hypogonadism, male namespace: medical_genetics alt_id: HP:0008649 def: "Lack of function of the males gonads (i.e., testes)." [HPO:curators] synonym: "Male hypogonadism" EXACT [] xref: UMLS:C0020619 xref: UMLS:C0024554 xref: UMLS:C0151721 xref: UMLS:C1706180 xref: UMLS:C1706428 xref: UMLS:C1706429 is_a: HP:0000022 ! Abnormality of male internal genitalia is_a: HP:0000025 ! Functional abnormality of male internal genitalia is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000027 name: Azoospermia namespace: medical_genetics xref: UMLS:C0004509 xref: UMLS:C1321542 is_a: HP:0000025 ! Functional abnormality of male internal genitalia [Term] id: HP:0000028 name: Cryptorchidism namespace: medical_genetics alt_id: HP:0000797 def: "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:curators] synonym: "Undescended testes" EXACT [] synonym: "Undescended testis" EXACT [] xref: UMLS:C0010417 xref: UMLS:C0153595 is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000029 name: Testicular atrophy namespace: medical_genetics xref: UMLS:C0156312 is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000030 name: Testicular gonadoblastoma namespace: medical_genetics def: "The presence of a `gonadoblastoma` (MPATH:315) of the `testis` (FMA:7210)." [HPO:probinson] synonym: "Gonadoblastoma, male" RELATED [] xref: UMLS:C0024554 xref: UMLS:C0206661 xref: UMLS:C1706180 xref: UMLS:C1706428 xref: UMLS:C1706429 is_a: HP:0000150 ! Gonadoblastoma is_a: HP:0010788 ! Testicular neoplasm [Term] id: HP:0000031 name: Epididymitis namespace: medical_genetics def: "The presence of `inflammation` (MPATH:212) of the `epididymis` (FMA:18255)." [HPO:probinson] xref: UMLS:C0014534 is_a: HP:0009714 ! Abnormality of the epididymis [Term] id: HP:0000032 name: Abnormality of male external genitalia namespace: medical_genetics def: "An abnormality of `male external genitalia` (FMA:45642)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0227922 xref: UMLS:C1704258 is_a: HP:0000811 ! Abnormal external genitalia is_a: HP:0010461 ! Abnormality of the male genitalia [Term] id: HP:0000033 name: Ambiguous genitalia, male namespace: medical_genetics def: "`Ambiguous genitalia` (HP:0000062) in an individual with XY genetic gender." [HPO:probinson] synonym: "Ambiguous genitalia in males" EXACT [] xref: UMLS:C0024554 xref: UMLS:C0086582 xref: UMLS:C0266362 xref: UMLS:C1706180 xref: UMLS:C1706428 xref: UMLS:C1706429 is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0000034 name: Hydrozele testis namespace: medical_genetics xref: UMLS:C1720771 is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000035 name: Abnormality of the testis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0039597 xref: UMLS:C0812397 xref: UMLS:C1278981 xref: UMLS:C1704258 is_a: HP:0000022 ! Abnormality of male internal genitalia [Term] id: HP:0000036 name: Abnormality of the penis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0030851 xref: UMLS:C1280739 xref: UMLS:C1704258 is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000037 name: Male pseudohermaphroditism namespace: medical_genetics 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 is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000039 name: Epispadias namespace: medical_genetics def: "Displacement of the urethral opening on the dorsal (superior) surface of the penis." [HPO:curators] xref: UMLS:C0014588 xref: UMLS:C0563449 xref: UMLS:C1691215 is_a: HP:0100627 ! Displacement of the external urethral meatus [Term] id: HP:0000040 name: Enlarged penis namespace: medical_genetics synonym: "Large penis" EXACT [] xref: UMLS:C0269011 is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0000041 name: Chordee namespace: medical_genetics def: "A condition in which the head of the penis curves downward." [HPO:curators] xref: UMLS:C0221182 is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0000042 name: Absent external genitalia namespace: medical_genetics xref: UMLS:C1848869 is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000044 name: Hypogonadotrophic hypogonadism namespace: medical_genetics 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 [] xref: UMLS:C0018061 xref: UMLS:C0020619 xref: UMLS:C0022735 xref: UMLS:C0271623 xref: UMLS:C0546642 xref: UMLS:C1522385 is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000045 name: Abnormality of the scrotum namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0036471 xref: UMLS:C1280740 xref: UMLS:C1704258 is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000046 name: Scrotal hypoplasia namespace: medical_genetics synonym: "Hypoplastic scrotum" EXACT [] xref: UMLS:C0431659 xref: UMLS:C1853568 is_a: HP:0000045 ! Abnormality of the scrotum is_a: HP:0000050 ! Hypoplastic genitalia [Term] id: HP:0000047 name: Hypospadias namespace: medical_genetics def: "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] xref: UMLS:C0848558 xref: UMLS:C1691215 is_a: HP:0100627 ! Displacement of the external urethral meatus [Term] id: HP:0000048 name: Bifid scrotum namespace: medical_genetics def: "Separation of the two halves of the scrotum, whereby commonly the 2 halves of the scrotum meet above the penis." [HPO:curators] xref: UMLS:C0341787 is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0000049 name: Shawl scrotum namespace: medical_genetics def: "A condition in which the upper scrotal skin rises over the base of the penis." [HPO:curators] synonym: "Overriding scrotum" EXACT [] xref: UMLS:C0036471 xref: UMLS:C1280740 xref: UMLS:C1547671 xref: UMLS:C1858539 is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0000050 name: Hypoplastic genitalia namespace: medical_genetics xref: UMLS:C1842582 is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0003241 ! Genital hypoplasia [Term] id: HP:0000051 name: Perineal hypospadias namespace: medical_genetics xref: UMLS:C0452148 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000052 name: Urethral atresia, male namespace: medical_genetics xref: UMLS:C0024554 xref: UMLS:C1610065 xref: UMLS:C1706180 xref: UMLS:C1706428 xref: UMLS:C1706429 is_a: HP:0000036 ! Abnormality of the penis is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000053 name: Macroorchidism namespace: medical_genetics def: "The presence of abnormally large testes." [HPO:curators] xref: UMLS:C1263023 is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000054 name: Micropenis namespace: medical_genetics alt_id: HP:0000038 def: "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." [HPO:probinson, pmid:15102623] synonym: "Microphallus" EXACT [] synonym: "Short penis" EXACT [] synonym: "Small penis" EXACT [] xref: UMLS:C0240701 xref: UMLS:C0266435 xref: UMLS:C0321997 xref: UMLS:C1853619 is_a: HP:0008736 ! Hypoplasia of penis [Term] id: HP:0000055 name: Abnormality of female external genitalia namespace: medical_genetics def: "An abnormality of the `female external genitalia` (FMA:45649)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0227747 xref: UMLS:C1704258 is_a: HP:0000811 ! Abnormal external genitalia is_a: HP:0010460 ! Abnormality of the female genitalia [Term] id: HP:0000056 name: Abnormality of the clitoris namespace: medical_genetics def: "An abnormality of the `clitoris` (FMA:9909)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0008984 xref: UMLS:C1278986 xref: UMLS:C1704258 is_a: HP:0000055 ! Abnormality of female external genitalia [Term] id: HP:0000057 name: Clitoromegaly namespace: medical_genetics def: "`Increased size` (PATO:0000586) of the `clitoris` (FMA:9909)." [HPO:probinson] synonym: "Clitoral enlargement" EXACT [] synonym: "Enlarged clitoris" EXACT [] synonym: "Prominent clitoris" EXACT [] xref: UMLS:C0156394 xref: UMLS:C1837531 is_a: HP:0000056 ! Abnormality of the clitoris [Term] id: HP:0000058 name: Abnormality of the labia namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0227759 xref: UMLS:C1070701 xref: UMLS:C1704258 xref: UMLS:C2346416 is_a: HP:0000055 ! Abnormality of female external genitalia [Term] id: HP:0000059 name: Hypoplastic labia majora namespace: medical_genetics synonym: "Hypoplasia of labia majora" EXACT [] synonym: "Small labia majora" EXACT [] xref: UMLS:C0227760 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C0566899 xref: UMLS:C1858540 is_a: HP:0000066 ! Labial hypoplasia [Term] id: HP:0000060 name: Clitoral hypoplasia namespace: medical_genetics def: "Developmental hypoplasia of the `clitoris` (FMA:9909)." [HPO:probinson] synonym: "Hypoplastic clitoris" EXACT [] synonym: "Small clitoris" EXACT [] xref: UMLS:C0425843 xref: UMLS:C1844527 xref: UMLS:C1849933 is_a: HP:0000056 ! Abnormality of the clitoris is_a: HP:0003241 ! Genital hypoplasia [Term] id: HP:0000061 name: Ambiguous genitalia, female namespace: medical_genetics alt_id: HP:0008690 def: "`Ambiguous genitalia` (HP:0000062) in an individual with XX genetic gender." [HPO:probinson] synonym: "Ambiguous genitalia due to virilization" RELATED [] xref: UMLS:C0015780 xref: UMLS:C0042755 xref: UMLS:C0266362 xref: UMLS:C1705497 xref: UMLS:C1705498 is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0000062 name: Ambiguous genitalia namespace: medical_genetics 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: 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 [] xref: UMLS:C0005615 xref: UMLS:C0235797 xref: UMLS:C0266362 xref: UMLS:C1550722 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000063 name: Fused labia minora namespace: medical_genetics def: "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [HPO:curators] xref: UMLS:C1837532 is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0000064 name: Hypoplastic labia minora namespace: medical_genetics xref: UMLS:C1849295 is_a: HP:0000066 ! Labial hypoplasia [Term] id: HP:0000065 name: Labial hypertrophy namespace: medical_genetics xref: UMLS:C0404531 is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0000066 name: Labial hypoplasia namespace: medical_genetics synonym: "Hypoplastic labia" EXACT [] xref: UMLS:C1844528 xref: UMLS:C1850325 is_a: HP:0000058 ! Abnormality of the labia is_a: HP:0003241 ! Genital hypoplasia [Term] id: HP:0000067 name: Urethral atresia, female namespace: medical_genetics xref: UMLS:C0015780 xref: UMLS:C1610065 xref: UMLS:C1705497 xref: UMLS:C1705498 is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000068 name: Urethral atresia namespace: medical_genetics xref: UMLS:C1610065 is_a: HP:0000795 ! Abnormality of the urethra is_a: HP:0000809 ! Urinary tract atresia [Term] id: HP:0000069 name: Abnormality of the ureter namespace: medical_genetics alt_id: HP:0006001 def: "An abnormality of the `ureter` (FMA:9704)." [HPO:probinson] comment: The ureter is the ductal organ that transports urine from the kidneys to the urinary bladder. This term refers to an abnormality of either or both of the `right ureter` (FMA:15571) and the `left ureter` (FMA:15572). synonym: "Abnormality of the ureters" EXACT [] synonym: "Ureteral anomalies" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0041951 xref: UMLS:C1704258 xref: UMLS:C1840382 is_a: HP:0010935 ! Abnormality of the upper urinary tract [Term] id: HP:0000070 name: Ureterocele namespace: medical_genetics def: "A ureterocele is a congenital saccular dilatation of the distal segment of the ureter." [eMedicine:453993] xref: UMLS:C0041960 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000071 name: Ureteral stenosis namespace: medical_genetics def: "The presence of a stenotic, i.e., `constricted` (PATO:0001847) `ureter` (FMA:9704)." [HPO:probinson] xref: UMLS:C0521618 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000072 name: Hydroureter namespace: medical_genetics alt_id: HP:0006003 def: "The distention of the `ureter` (FMA:9704) with urine." [HPO:curators] synonym: "Megaureter" EXACT [] synonym: "Ureteral dilatation" EXACT [] synonym: "Uroureter" RELATED [] xref: UMLS:C0521620 xref: UMLS:C2349979 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000073 name: Ureteral duplication namespace: medical_genetics 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:C0221365 xref: UMLS:C1848759 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000074 name: Ureteropelvic junction obstruction namespace: medical_genetics synonym: "Pelviureteric junction obstruction" EXACT [] xref: UMLS:C0521619 xref: UMLS:C0948710 xref: UMLS:C1840451 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000075 name: Renal duplication namespace: medical_genetics synonym: "Supernumerary kidney" RELATED [] xref: UMLS:C1849336 is_a: HP:0000077 ! Abnormality of the kidney created_by: peter creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000076 name: Vesicoureteral reflux namespace: medical_genetics 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:curators] synonym: "Ureteral reflux" EXACT [] synonym: "Ureteric reflux" EXACT [] synonym: "Vesicoureteric reflux" EXACT [] xref: UMLS:C0042580 xref: UMLS:C1835578 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 namespace: medical_genetics def: "An abnormality of the `kidney` (FMA:7203)." [HPO:curators] comment: The kidney is a paired organ whose primary function is the production of urine. synonym: "Renal anomalies" EXACT [] synonym: "Renal anomaly" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0022646 xref: UMLS:C0266292 xref: UMLS:C1704258 is_a: HP:0010935 ! Abnormality of the upper urinary tract [Term] id: HP:0000078 name: Abnormality of the genital system namespace: medical_genetics def: "An abnormality of the `genital system` (7160)." [HPO:probinson] synonym: "Genital abnormalities" EXACT [] synonym: "Genital abnormality" EXACT [] synonym: "Genital anomalies" EXACT [] synonym: "Genital defects" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0220810 xref: UMLS:C0559522 xref: UMLS:C0744356 xref: UMLS:C1185740 xref: UMLS:C1546649 xref: UMLS:C1704257 xref: UMLS:C1704258 xref: UMLS:C2186260 is_a: HP:0000119 ! Abnormality of the genitourinary system [Term] id: HP:0000079 name: Abnormality of the urinary system namespace: medical_genetics def: "An abnormality of the `urinary system` (FMA:7159)." [HPO:probinson] synonym: "Urinary tract abnormalities" EXACT [] synonym: "Urinary tract abnormality" EXACT [] synonym: "Urinary tract anomalies" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0042027 xref: UMLS:C0158698 xref: UMLS:C0749923 xref: UMLS:C1185740 xref: UMLS:C1508753 xref: UMLS:C1704258 is_a: HP:0000119 ! Abnormality of the genitourinary system [Term] id: HP:0000080 name: Genital functional abnormality namespace: medical_genetics xref: UMLS:C0205245 xref: UMLS:C0542341 xref: UMLS:C0744356 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000081 name: Duplicated collecting system namespace: medical_genetics synonym: "Double collecting system" EXACT [] synonym: "Double urinary collecting systems on intravenous pyelography" EXACT [] synonym: "Duplicated renal collecting system" EXACT [] xref: UMLS:C0042027 xref: UMLS:C0203108 xref: UMLS:C0205173 xref: UMLS:C0281830 xref: UMLS:C1524119 xref: UMLS:C1705764 xref: UMLS:C1705765 xref: UMLS:C1848393 xref: UMLS:C1858565 xref: UMLS:C1979873 is_a: HP:0000073 ! Ureteral duplication is_a: HP:0000075 ! Renal duplication created_by: peter creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000082 name: Abnormality of renal physiology namespace: medical_genetics alt_id: HP:0000087 alt_id: HP:0005566 alt_id: HP:0008646 def: "An `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `kidney` (FMA:7203)." [HPO:probinson] synonym: "Decreased renal function" EXACT [] synonym: "Impaired renal function" EXACT [] synonym: "Loss of renal function" EXACT [] synonym: "Reduced renal function" EXACT [] synonym: "Renal dysfunction" EXACT [] synonym: "Renal functional abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0022646 xref: UMLS:C0022662 xref: UMLS:C0205245 xref: UMLS:C0232804 xref: UMLS:C0232807 xref: UMLS:C0341697 xref: UMLS:C0392756 xref: UMLS:C0542341 xref: UMLS:C1517945 xref: UMLS:C1704258 xref: UMLS:C1848822 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000083 name: Renal failure namespace: medical_genetics synonym: "Renal insufficiency" EXACT [] xref: UMLS:C0035078 xref: UMLS:C1565489 xref: UMLS:C1963154 is_a: HP:0000082 ! Abnormality of renal physiology [Term] id: HP:0000084 name: Renal failure in adulthood namespace: medical_genetics xref: UMLS:C0035078 xref: UMLS:C0700597 xref: UMLS:C1963154 is_a: HP:0000083 ! Renal failure [Term] id: HP:0000085 name: Horseshoe kidney namespace: medical_genetics synonym: "Horseshoe kidneys" EXACT [] xref: UMLS:C0221353 is_a: HP:0100542 ! Abnormal localization of kidneys [Term] id: HP:0000086 name: Ectopic kidney namespace: medical_genetics def: "A developmental defect in which a kidney is located in an abnormal anatomic position." [HPO:curators] synonym: "Ectopic kidneys" EXACT [] synonym: "Renal ectopia" EXACT [] xref: UMLS:C0238207 xref: UMLS:C1860492 is_a: HP:0100542 ! Abnormal localization of kidneys [Term] id: HP:0000089 name: Renal hypoplasia namespace: medical_genetics alt_id: HP:0001968 def: "`Hypoplasia` (MPATH:133) of the `kidney` (FMA:7203)." [HPO:probinson] synonym: "Hypoplastic kidney" EXACT [] synonym: "Hypoplastic kidneys" EXACT [] synonym: "Small kidneys" EXACT [] xref: UMLS:C0156247 xref: UMLS:C0266295 is_a: HP:0008678 ! Renal hypoplasia/aplasia [Term] id: HP:0000090 name: Nephronophthisis namespace: medical_genetics comment: Progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. xref: UMLS:C0687120 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000091 name: Abnormality of the renal tubule namespace: medical_genetics def: "An abnormality of the `renal tubules` (FMA:15627)." [HPO:probinson] comment: The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine. xref: UMLS:C0000768 xref: UMLS:C0022674 xref: UMLS:C1283878 xref: UMLS:C1704258 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000092 name: Tubular atrophy namespace: medical_genetics synonym: "Renal biopsy shows focal tubular atrophy" EXACT [] synonym: "Renal biopsy shows tubular atrophy" EXACT [] xref: UMLS:C0151747 xref: UMLS:C0194073 xref: UMLS:C0205234 xref: UMLS:C0332208 xref: UMLS:C1265891 xref: UMLS:C1547282 xref: UMLS:C1858395 is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0000093 name: Proteinuria namespace: medical_genetics xref: UMLS:C0033687 xref: UMLS:C1279888 xref: UMLS:C1962972 is_a: HP:0000091 ! Abnormality of the renal tubule is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0000094 name: Urinary tract infections namespace: medical_genetics synonym: "Urinary infection" EXACT [] synonym: "Urinary tract infection" EXACT [] xref: UMLS:C0042029 is_a: HP:0000082 ! Abnormality of renal physiology [Term] id: HP:0000095 name: Morphological abnormalities of the glomeruli namespace: medical_genetics xref: UMLS:C0022663 xref: UMLS:C0332447 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000096 name: Glomerulosclerosis namespace: medical_genetics xref: UMLS:C0178664 is_a: HP:0000095 ! Morphological abnormalities of the glomeruli [Term] id: HP:0000097 name: Focal segmental glomerulosclerosis namespace: medical_genetics synonym: "Focal and segmental glomerular sclerosis" EXACT [] synonym: "Focal and segmental glomerulosclerosis" EXACT [] xref: UMLS:C0017668 xref: UMLS:C0178664 xref: UMLS:C0205122 xref: UMLS:C0205234 xref: UMLS:C0333497 is_a: HP:0000096 ! Glomerulosclerosis [Term] id: HP:0000098 name: Tall stature namespace: medical_genetics alt_id: HP:0001527 synonym: "Increased body height" EXACT [] xref: UMLS:C0231249 xref: UMLS:C0241240 is_a: HP:0000002 ! Abnormality of body height created_by: peter creation_date: 2008-02-27T02:21:00Z [Term] id: HP:0000099 name: Glomerulonephritis namespace: medical_genetics synonym: "Glomrulonephritis" EXACT [] xref: UMLS:C0017658 is_a: HP:0000095 ! Morphological abnormalities of the glomeruli [Term] id: HP:0000100 name: Nephrotic syndrome namespace: medical_genetics synonym: "Nephotic syndrome" EXACT [] xref: UMLS:C0027726 xref: UMLS:C1860269 is_a: HP:0000082 ! Abnormality of renal physiology [Term] id: HP:0000101 name: Chronic renal failure namespace: medical_genetics xref: UMLS:C0022661 is_a: HP:0000083 ! Renal failure [Term] id: HP:0000103 name: Polyuria namespace: medical_genetics def: "An `increased rate` (PATO:0000912) of `micturition` (GO:0060073)." [HPO:probinson] comment: An excessive volume of urination for an adult is more than 2.5 liters of urine per day. xref: UMLS:C0032617 is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0011036 ! Abnormality of renal excretion [Term] id: HP:0000104 name: Renal agenesis namespace: medical_genetics alt_id: HP:0000785 def: "Failure of the `kidney` (FMA:7203) to develop during embryogenesis and development." [HPO:probinson] comment: Renal agenesis can occur as a unilateral or bilateral trait. synonym: "Absent kidney" EXACT [] xref: UMLS:C0220706 xref: UMLS:C0426706 xref: UMLS:C0542519 xref: UMLS:C2110866 xref: UMLS:C2187347 is_a: HP:0008678 ! Renal hypoplasia/aplasia [Term] id: HP:0000105 name: Enlarged kidneys namespace: medical_genetics synonym: "Large kidneys" EXACT [] synonym: "Renal enlargement" EXACT [] xref: UMLS:C0542518 xref: UMLS:C1856357 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000106 name: Progressive renal insufficiency namespace: medical_genetics synonym: "Progressive renal failure" EXACT [] xref: UMLS:C0748318 is_a: HP:0000083 ! Renal failure [Term] id: HP:0000107 name: Renal cysts namespace: medical_genetics alt_id: HP:0000088 alt_id: HP:0000109 xref: UMLS:C0268800 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000108 name: Corticomedullary cysts namespace: medical_genetics synonym: "Corticomedullary renal cysts" EXACT [] synonym: "Renal corticomedullary cystic disease" EXACT [] xref: UMLS:C1691228 xref: UMLS:C1858394 xref: UMLS:C1968619 is_a: HP:0000107 ! Renal cysts is_a: HP:0010576 ! Cystic malformations affecting the central nervous system [Term] id: HP:0000110 name: Renal dysplasia namespace: medical_genetics alt_id: HP:0000116 def: "The presence of `developmental dysplasia` (MPATH:64) of the `kidney` (FMA:7203)." [HPO:probinson] synonym: "Dysplastic kidneys" EXACT [] xref: UMLS:C0266313 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000111 name: Renal juxtaglomerular cell hypertrophy/hyperplasia namespace: medical_genetics xref: UMLS:C0020507 xref: UMLS:C0156259 xref: UMLS:C0227650 is_a: HP:0000095 ! Morphological abnormalities of the glomeruli [Term] id: HP:0000112 name: Nephropathy namespace: medical_genetics def: "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] xref: UMLS:C0022658 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000113 name: Polycystic kidney dysplasia namespace: medical_genetics alt_id: HP:0004739 alt_id: HP:0004740 alt_id: HP:0008645 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: "Polycystic kidney disease" EXACT [] synonym: "Polycystic kidneys" EXACT [] xref: UMLS:C0022680 xref: UMLS:C0085413 xref: UMLS:C0345335 xref: UMLS:C0441729 xref: UMLS:C0441731 xref: UMLS:C1567435 xref: UMLS:C1691228 is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000114 name: Proximal renal tubule defect namespace: medical_genetics synonym: "Proximal tubular defect" EXACT [] synonym: "Proximal tubulopathy" EXACT [] xref: UMLS:C0022677 xref: UMLS:C1457869 xref: UMLS:C1839603 xref: UMLS:C1859342 xref: UMLS:C1861101 is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0000117 name: Decreased renal tubular phosphate reabsorption namespace: medical_genetics 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: "Renal phosphate wasting" EXACT [] synonym: "Tubular phosphate reabsorption low" EXACT [] xref: UMLS:C0017654 xref: UMLS:C0031603 xref: UMLS:C0151747 xref: UMLS:C0205216 xref: UMLS:C0205251 xref: UMLS:C0232816 xref: UMLS:C0332208 xref: UMLS:C0392756 xref: UMLS:C0806909 xref: UMLS:C0853068 xref: UMLS:C1299352 xref: UMLS:C1550472 xref: UMLS:C1552615 xref: UMLS:C1561549 xref: UMLS:C1601799 xref: UMLS:C1843973 xref: UMLS:C1845169 is_a: HP:0000127 ! Renal salt wasting [Term] id: HP:0000118 name: Phenotypic abnormality namespace: medical_genetics alt_id: HP:0003012 def: "A phenotypic abnormality." [HPO:probinson] comment: This is the root of the phenotypic abnormality subontology of the HPO. synonym: "Organ abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0178784 xref: UMLS:C0398368 xref: UMLS:C1704258 is_a: HP:0000001 ! All [Term] id: HP:0000119 name: Abnormality of the genitourinary system namespace: medical_genetics alt_id: HP:0008658 alt_id: HP:0008704 def: "The presence of any abnormality of the `genitourinary system` (FMA:280610)." [HPO:curators] synonym: "Genitourinary abnormality" EXACT [] synonym: "Genitourinary tract anomalies" EXACT [] synonym: "Urogenital abnormalities" EXACT [] synonym: "Urogenital anomalies" EXACT [] xref: UMLS:C0042063 xref: UMLS:C1844502 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000120 name: Reduced creatinine clearance namespace: medical_genetics synonym: "Impaired renal creatinine clearance" EXACT [] xref: UMLS:C1856356 xref: UMLS:C1969370 is_a: HP:0000082 ! Abnormality of renal physiology [Term] id: HP:0000121 name: Nephrocalcinosis namespace: medical_genetics xref: UMLS:C0027709 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000122 name: Unilateral renal agenesis namespace: medical_genetics def: "Unilateral failure of the `kidney` (FMA:7203) to develop during embryogenesis and development." [HPO:probinson] synonym: "Unilateral kidney agenesis" EXACT [] xref: UMLS:C0266294 is_a: HP:0000104 ! Renal agenesis [Term] id: HP:0000123 name: Nephritis namespace: medical_genetics def: "The presence of `inflammation` (MPATH:212) affecting the `kidney` (FMA:7203)." [HPO:probinson] xref: UMLS:C0027697 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000124 name: Renal tubular dysfunction namespace: medical_genetics synonym: "Renal tubular defect" EXACT [] synonym: "Renal tubular disease" EXACT [] xref: UMLS:C0022658 xref: UMLS:C0151747 xref: UMLS:C0268709 xref: UMLS:C0332208 is_a: HP:0000082 ! Abnormality of renal physiology [Term] id: HP:0000125 name: Pelvic kidney namespace: medical_genetics def: "A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis." [HPO:curators] xref: UMLS:C0221209 is_a: HP:0000086 ! Ectopic kidney [Term] id: HP:0000126 name: Hydronephrosis namespace: medical_genetics def: "Severe distention of the kidney with dilation of the renal pelvis and calyces, caused by retrograde pressure on the kidney when the flow of urine is obstructed." [HPO:probinson] xref: UMLS:C0020295 is_a: HP:0010946 ! Dilatation of the renal pelvis [Term] id: HP:0000127 name: Renal salt wasting namespace: medical_genetics synonym: "Renal salt-wasting" EXACT [] synonym: "Salt wasting" EXACT [] synonym: "Salt-wasting" EXACT [] xref: UMLS:C1846347 xref: UMLS:C1864609 is_a: HP:0000082 ! Abnormality of renal physiology is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0000128 name: Renal potassium wasting namespace: medical_genetics xref: UMLS:C1846348 is_a: HP:0000127 ! Renal salt wasting [Term] id: HP:0000129 name: Interstitial fibrosis namespace: medical_genetics synonym: "Renal interstitial fibrosis" EXACT [] xref: UMLS:C0235989 xref: UMLS:C0240035 is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0000130 name: Abnormality of the uterus namespace: medical_genetics alt_id: HP:0008630 alt_id: HP:0008692 def: "An abnormality of the `uterus` (FMA:17558)." [HPO:probinson] synonym: "Uterine abnormalities" EXACT [] synonym: "Uterine malformations" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0042149 xref: UMLS:C0266383 xref: UMLS:C0869889 xref: UMLS:C1269032 xref: UMLS:C1704258 xref: UMLS:C1860276 is_a: HP:0000008 ! Abnormality of female internal genitalia [Term] id: HP:0000131 name: Uterine leiomyoma namespace: medical_genetics alt_id: HP:0008642 def: "The presence of a `leiomyoma` (MPATH:425) of the `uterus` (FMA:17558)." [HPO:probinson] comment: Leiomyoma is a benign neoplasm derived from smooth muscle cells. synonym: "Benign uterine leiomyomas" EXACT [] synonym: "Uterine fibroid" EXACT [] xref: UMLS:C0042133 xref: UMLS:C0205183 is_a: HP:0010784 ! Uterine neoplasm [Term] id: HP:0000132 name: Menorrhagia namespace: medical_genetics xref: UMLS:C0025323 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000133 name: Gonadal dysgenesis namespace: medical_genetics alt_id: HP:0003243 synonym: "Mixed gonadal dysgenesis" EXACT [] synonym: "Pure gonadal dysgenesis" EXACT [] xref: UMLS:C0018051 xref: UMLS:C0687149 is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0000134 name: Female hypogonadism namespace: medical_genetics def: "`Decreased functionality` (PATO:0001624) of the female gonads, i.e., of the `ovary` (FMA:7209)." [HPO:probinson] synonym: "Hypogonadism, female" EXACT [] xref: UMLS:C0015780 xref: UMLS:C0020619 xref: UMLS:C1705497 xref: UMLS:C1705498 is_a: HP:0000135 ! Hypogonadism is_a: HP:0000137 ! Abnormality of the ovary [Term] id: HP:0000135 name: Hypogonadism namespace: medical_genetics def: "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] comment: Lack of function of the gonads (ovaries or testes). xref: UMLS:C0020619 is_a: HP:0000080 ! Genital functional abnormality is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000136 name: Bifid uterus namespace: medical_genetics def: "The presence of a `bifid` (PATO:0001572) `uterus` (FMA:17558)." [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 is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0000137 name: Abnormality of the ovary namespace: medical_genetics def: "An abnormality of the `ovary` (FMA:7209)." [HPO:probinson] synonym: "Abnormality of the ovaries" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0029939 xref: UMLS:C1704258 is_a: HP:0000008 ! Abnormality of female internal genitalia [Term] id: HP:0000138 name: Ovarian cysts namespace: medical_genetics xref: UMLS:C0029927 is_a: HP:0000146 ! Ovarian cystic abnormality [Term] id: HP:0000139 name: Uterine prolapse namespace: medical_genetics def: "The presence of `prolapse` (MPATH:626) of the `uterus` (FMA:17558)." [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: UMLS:C0042140 is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0000140 name: Abnormality of the menstrual cycle namespace: medical_genetics def: "An abnormality of the `ovulation cycle` (GO:0042698)." [HPO:probinson] synonym: "Menstrual abnormalities" RELATED [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0025344 is_a: HP:0000008 ! Abnormality of female internal genitalia is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000141 name: Amenorrhea namespace: medical_genetics xref: UMLS:C0002453 xref: UMLS:C2219717 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000142 name: Abnormality of the vagina namespace: medical_genetics alt_id: HP:0008650 def: "An abnormality of the `vagina` (FMA:19949)." [HPO:probinson] synonym: "Vaginal malformation" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0042232 xref: UMLS:C1278985 xref: UMLS:C1704258 xref: UMLS:C1856023 xref: UMLS:C1998935 is_a: HP:0000008 ! Abnormality of female internal genitalia [Term] id: HP:0000143 name: Rectovaginal fistula namespace: medical_genetics def: "The presence of a `fistula` (MPATH:70) between the `vagina` (FMA:19949) and the `rectum` (FMA:14544)." [HPO:probinson] xref: UMLS:C0034895 is_a: HP:0004320 ! Vaginal fistula is_a: HP:0100590 ! Rectal fistula [Term] id: HP:0000144 name: Decreased fertility namespace: medical_genetics xref: UMLS:C0520927 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000145 name: Transverse vaginal septum namespace: medical_genetics synonym: "Transverse vaginal membrane" EXACT [] xref: UMLS:C1856006 xref: UMLS:C1858564 is_a: HP:0001153 ! Septate vagina [Term] id: HP:0000146 name: Ovarian cystic abnormality namespace: medical_genetics def: "The presence of one or more `cysts` (MPATH:62) of the `ovary` (FMA:7209)." [HPO:probinson] synonym: "Cystic abnormalities of the ovaries" EXACT [] synonym: "Cystic ovaries" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0010709 xref: UMLS:C0029939 xref: UMLS:C0205207 xref: UMLS:C0849777 is_a: HP:0000137 ! Abnormality of the ovary [Term] id: HP:0000147 name: polycystic ovaries namespace: medical_genetics alt_id: HP:0008644 synonym: "Polycystic ovary" EXACT [] synonym: "Polycystic ovary disease" EXACT [] xref: UMLS:C0032460 is_a: HP:0000138 ! Ovarian cysts [Term] id: HP:0000148 name: Vaginal atresia namespace: medical_genetics xref: UMLS:C1321884 is_a: HP:0000142 ! Abnormality of the vagina is_a: HP:0001827 ! Genital atresia [Term] id: HP:0000149 name: Ovarian gonadoblastoma namespace: medical_genetics def: "The presence of a `gonadoblastoma` (MPATH:315) of the `ovary` (FMA:7209)." [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 [] xref: UMLS:C0015780 xref: UMLS:C0206661 xref: UMLS:C1705497 xref: UMLS:C1705498 is_a: HP:0000150 ! Gonadoblastoma is_a: HP:0100615 ! Ovarian neoplasm [Term] id: HP:0000150 name: Gonadoblastoma namespace: medical_genetics alt_id: HP:0006745 def: "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." [HPO:probinson] xref: UMLS:C0035647 xref: UMLS:C0206661 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010785 ! Gonadal neoplasm [Term] id: HP:0000151 name: Aplasia of the uterus namespace: medical_genetics def: "`Aplasia` (MPATH:58) of the `uterus` (FMA:17558)." [HPO:probinson] synonym: "Absent uterus" EXACT [] xref: UMLS:C0425913 is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus [Term] id: HP:0000152 name: Abnormality of head and neck namespace: medical_genetics def: "An abnormality of `head and neck` (FMA:280881)." [HPO:probinson] comment: An abnormality of a structure of the head/neck. Note that this term does not comprise nervous system abnormalities, see `Abnormality of the nervous system` (HP:0000707). synonym: "Head and neck abnormality" EXACT [] xref: UMLS:C0018670 xref: UMLS:C0262407 xref: UMLS:C1281590 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000153 name: Abnormality of the mouth namespace: medical_genetics def: "An abnormality of the `mouth` (FMA:49184)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0226896 xref: UMLS:C0230028 xref: UMLS:C1267547 xref: UMLS:C1278910 xref: UMLS:C1704258 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000154 name: Wide mouth namespace: medical_genetics 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. synonym: "Broad mouth" EXACT [] synonym: "Large mouth" EXACT [] synonym: "Macrostomia" EXACT [] xref: UMLS:C0024433 xref: UMLS:C1837534 xref: UMLS:C1853635 xref: UMLS:C1854782 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000155 name: Oral ulcers namespace: medical_genetics xref: UMLS:C0149745 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000156 name: High-arched palate namespace: medical_genetics def: "The presence of a highly arched palate." [HPO:curators] synonym: "High arched palate" EXACT [] synonym: "High narrow palate" EXACT [] synonym: "High, arched palate" EXACT [] xref: UMLS:C0205250 xref: UMLS:C0240635 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1299351 xref: UMLS:C1398297 xref: UMLS:C1398312 is_a: HP:0000189 ! Narrow palate is_a: HP:0000218 ! High palate [Term] id: HP:0000157 name: Abnormality of the tongue namespace: medical_genetics def: "Any abnormality of the tongue." [HPO:curators] synonym: "Tongue abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0040408 xref: UMLS:C0878638 xref: UMLS:C1278913 xref: UMLS:C1704258 xref: UMLS:C2137027 is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000158 name: Macroglossia namespace: medical_genetics 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. synonym: "Hyperplasia of the tongue" EXACT [] synonym: "Hypertrophy of the tongue" EXACT [] synonym: "Large tongue" EXACT [] synonym: "Tongue hypertrophy" EXACT [] xref: UMLS:C0009677 xref: UMLS:C0020507 xref: UMLS:C0020564 xref: UMLS:C0024421 xref: UMLS:C0040408 xref: UMLS:C0241442 xref: UMLS:C0563387 xref: UMLS:C1278913 xref: UMLS:C2137027 is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0003712 ! Muscle hypertrophy [Term] id: HP:0000159 name: Lip abnormality namespace: medical_genetics def: "An abnormality of the `lips` (FMA:59815)." [HPO:probinson] xref: UMLS:C2183966 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000160 name: Narrow mouth namespace: medical_genetics alt_id: HP:0002261 def: "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)." [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. synonym: "Microstomia" EXACT [] synonym: "Small mouth" EXACT [] synonym: "Small oral aperture" EXACT [] xref: UMLS:C0026034 xref: UMLS:C0226896 xref: UMLS:C0230028 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1267547 xref: UMLS:C1278910 xref: UMLS:C1837735 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000161 name: Median cleft lip namespace: medical_genetics def: "A type of `cleft lip` (HP:0000204) presenting as a midline (median) gap in the upper lip." [HPO:curators] synonym: "Midline cleft lip" EXACT [] xref: UMLS:C1850256 xref: UMLS:C1854999 is_a: HP:0000204 ! Cleft lip is_a: HP:0008501 ! Median cleft lip/palate [Term] id: HP:0000162 name: Glossoptosis namespace: medical_genetics def: "Posterior displacement of the tongue into the pharynx." [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. xref: UMLS:C0267048 is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000163 name: Abnormality of the oral cavity namespace: medical_genetics def: "Abnormality of the opening or hollow part of the mouth." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0226896 xref: UMLS:C1278910 xref: UMLS:C1704258 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000164 name: Abnormality of the teeth namespace: medical_genetics alt_id: HP:0006348 def: "Any abnormality of the primary (deciduous) or permanent teeth." [HPO:curators] synonym: "Abnormal dentition" EXACT [] synonym: "Abnormal teeth" EXACT [] synonym: "Dental abnormalities" EXACT [] synonym: "Dental abnormality" EXACT [] synonym: "Dental anomalies" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0011443 xref: UMLS:C0040426 xref: UMLS:C0205161 xref: UMLS:C0262444 xref: UMLS:C1552102 xref: UMLS:C1704258 xref: UMLS:C1861706 xref: UMLS:C2239132 xref: UMLS:C2347472 is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000165 name: Periodontitis namespace: medical_genetics alt_id: HP:0006301 def: "Inflammation of the tissues supporting the teeth." [HPO:ibailleulforestier] xref: UMLS:C0011334 xref: UMLS:C0031099 xref: UMLS:C0034897 xref: UMLS:C0521009 is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0000704 ! Periodontal disease [Term] id: HP:0000166 name: Severe periodontitis namespace: medical_genetics def: "A `severe` (PATO:0000396) form of `periodontitis` (HP:0000165)." [HPO:probinson] xref: UMLS:C0031099 xref: UMLS:C0205082 xref: UMLS:C1519275 is_a: HP:0000165 ! Periodontitis [Term] id: HP:0000167 name: Oral bleeding namespace: medical_genetics xref: UMLS:C0029163 is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000168 name: Abnormality of the gingiva namespace: medical_genetics def: "Any abnormality of the `gingiva` (FMA:59762) (also known as gums)." [HPO:curators] comment: The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. synonym: "Gingival abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0017562 xref: UMLS:C1278912 xref: UMLS:C1298996 xref: UMLS:C1704258 is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000169 name: Gingival fibromatosis namespace: medical_genetics def: "The presence of `fibrosis` (MPATH:181) of the `gingiva` (FMA:59762)." [HPO:curators] 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. synonym: "Gingival fibroma" EXACT [] synonym: "Gingival fibrous nodules" EXACT [HPO:curators] xref: UMLS:C0016049 xref: UMLS:C0017562 xref: UMLS:C0332561 xref: UMLS:C0439709 xref: UMLS:C1298996 xref: UMLS:C1860712 xref: UMLS:C1865599 is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0010614 ! Fibroma [Term] id: HP:0000170 name: Full lips namespace: medical_genetics synonym: "Thick lips" EXACT [] xref: UMLS:C0424485 xref: UMLS:C1836543 is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000171 name: Microglossia namespace: medical_genetics alt_id: HP:0000226 alt_id: HP:0009079 def: "Decreased length and width of the `tongue` (FMA:54640)." [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. synonym: "Hypoglossia" EXACT [] synonym: "Hypoplasia of the tongue" EXACT [] synonym: "Hypoplastic tongue" EXACT [] synonym: "Rudimentary tongue" EXACT [] synonym: "Small tongue" EXACT [] xref: UMLS:C0025988 xref: UMLS:C0426492 xref: UMLS:C1849178 is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue [Term] id: HP:0000172 name: Abnormality of the uvula namespace: medical_genetics def: "Abnormality of the `uvula` (FMA:55022), the conic projection from the posterior edge of the middle of the soft palate." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0042173 xref: UMLS:C0546037 xref: UMLS:C1704258 xref: UMLS:C2077316 is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000174 name: Abnormality of palate namespace: medical_genetics def: "Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0700374 xref: UMLS:C1278914 xref: UMLS:C1704258 is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000175 name: Cleft palate namespace: medical_genetics def: "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes." [HPO:curators] 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. xref: UMLS:C0008925 xref: UMLS:C2240378 is_a: HP:0000202 ! Cleft lip/palate [Term] id: HP:0000176 name: Submucous cleft palate namespace: medical_genetics alt_id: HP:0002746 def: "A cleft palate that is covered by the mucous membrane of the roof of the mouth, which can make the cleft more difficult to observe upon physical examination. Soft-palate submucous clefts are characterized by a midline deficiency or lack of muscle tissue. Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate. It may be possible to detect a submucous cleft palate upon palpation as a notch in the bony palate." [HPO:curators, pmid:19779505] synonym: "Submucosal cleft palate" EXACT [] xref: UMLS:C0432103 xref: UMLS:C1836680 is_a: HP:0000175 ! Cleft palate is_a: HP:0000208 ! Submucous cleft lip/palate [Term] id: HP:0000177 name: Abnormality of upper lip namespace: medical_genetics def: "An abnormality of the `upper lip` (FMA:59817)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0458582 xref: UMLS:C1280388 xref: UMLS:C1704258 is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000178 name: Abnormality of lower lip namespace: medical_genetics def: "An abnormality of the `lower lip` (FMA:59818)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0458583 xref: UMLS:C1280389 xref: UMLS:C1704258 is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000179 name: Thick lower lip vermilion namespace: medical_genetics 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:C1839739 is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0000184 ! Prominent lips [Term] id: HP:0000180 name: Lobulated tongue namespace: medical_genetics 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. synonym: "Lobulate tongue" EXACT [] xref: UMLS:C0431564 is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000182 name: Movement abnormalities of the tongue namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0026649 xref: UMLS:C0040408 xref: UMLS:C1278913 xref: UMLS:C2137027 is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0000183 name: Difficulty in tongue movements namespace: medical_genetics xref: UMLS:C0426982 xref: UMLS:C1299586 is_a: HP:0000182 ! Movement abnormalities of the tongue [Term] id: HP:0000184 name: Prominent lips namespace: medical_genetics def: "The presence of `prominent` (PATO:0001482) `lips` (FMA:59815)." [HPO:probinson] xref: UMLS:C1863874 is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000185 name: Cleft soft palate namespace: medical_genetics 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 is_a: HP:0000175 ! Cleft palate [Term] id: HP:0000187 name: Broad alveolar ridges namespace: medical_genetics synonym: "Broad alveolar margins" EXACT [] synonym: "Widened alveolar ridges" EXACT [] xref: UMLS:C1849179 xref: UMLS:C1857500 xref: UMLS:C1857948 is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0000188 name: Short upper lip namespace: medical_genetics def: "`Decreased width` (PATO:0000599) of the `upper lip` (FMA:59817)." [HPO:probinson] xref: UMLS:C1848977 is_a: HP:0000177 ! Abnormality of upper lip [Term] id: HP:0000189 name: Narrow palate namespace: medical_genetics 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. xref: UMLS:C1398312 is_a: HP:0000174 ! Abnormality of palate [Term] id: HP:0000190 name: Abnormality of oral frenula namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C1704258 is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000191 name: Accessory oral frenulum namespace: medical_genetics 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. synonym: "Extra oral frenulum" EXACT [] synonym: "Supernumerary oral frenulum" EXACT [] xref: UMLS:C1850258 is_a: HP:0000190 ! Abnormality of oral frenula [Term] id: HP:0000193 name: Bifid uvula namespace: medical_genetics alt_id: HP:0000173 def: "`Uvula` (FMA:55022) separated into two parts most easily seen at the tip." [pmid:19125428] synonym: "Cleft uvula" EXACT [] synonym: "Uvula bifida" EXACT [] xref: UMLS:C0266122 is_a: HP:0000172 ! Abnormality of the uvula [Term] id: HP:0000194 name: Open mouth namespace: medical_genetics xref: UMLS:C0240379 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000196 name: Lower lip pit namespace: medical_genetics def: "Depression located on the `vermilion of the lower lip` (FMA:59828), 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 is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0100269 ! Paramedian lip pits [Term] id: HP:0000197 name: Abnormality of parotid gland namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0030580 xref: UMLS:C1278916 xref: UMLS:C1704258 is_a: HP:0010286 ! Abnormality of the salivary glands [Term] id: HP:0000198 name: Absence of Stensen duct namespace: medical_genetics synonym: "Absent stensen duct" EXACT [] xref: UMLS:C0227458 xref: UMLS:C1689985 xref: UMLS:C1835603 xref: UMLS:C2107118 is_a: HP:0000197 ! Abnormality of parotid gland [Term] id: HP:0000199 name: Tongue nodules namespace: medical_genetics xref: UMLS:C0241438 is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000200 name: Short lingual frenulum namespace: medical_genetics def: "The presence of an abnormally short lingual frenulum." [HPO:probinson] synonym: "Short tongue frenulum" EXACT [] xref: UMLS:C1849949 is_a: HP:0000190 ! Abnormality of oral frenula [Term] id: HP:0000201 name: Pierre-Robin sequence namespace: medical_genetics synonym: "Pierre Robin sequence" EXACT [] synonym: "Robin sequence" EXACT [] xref: UMLS:C0031900 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000202 name: Cleft lip/palate namespace: medical_genetics synonym: "Cleft lip and cleft palate" NARROW [] synonym: "Cleft lip and palate" NARROW [] synonym: "Cleft lip or cleft palate" EXACT [] synonym: "Cleft lip or palate" EXACT [] synonym: "Cleft lip, cleft palate" NARROW [] xref: UMLS:C0008924 xref: UMLS:C0008925 xref: UMLS:C0700374 xref: UMLS:C1278914 xref: UMLS:C2240378 is_a: HP:0000174 ! Abnormality of palate [Term] id: HP:0000204 name: Cleft lip namespace: medical_genetics def: "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] xref: UMLS:C0008924 is_a: HP:0000177 ! Abnormality of upper lip is_a: HP:0000202 ! Cleft lip/palate [Term] id: HP:0000205 name: Pursed lips namespace: medical_genetics xref: UMLS:C1832130 is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000206 name: Glossitis namespace: medical_genetics def: "Inflammation of the tongue." [HPO:sdoelken] xref: UMLS:C0017675 is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000207 name: Triangular mouth namespace: medical_genetics def: "The presence of a `triangular` (PATO:0001875) form of the `mouth` (FMA:49184)." [HPO:probinson] synonym: "Triangular shaped mouth" EXACT [] xref: UMLS:C1849341 xref: UMLS:C1850354 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000208 name: Submucous cleft lip/palate namespace: medical_genetics def: "The presence of a cleft of the lip or palate that is covered by mucous membrane." [HPO:curators] synonym: "Submucous clefting" RELATED [] xref: UMLS:C0700374 xref: UMLS:C1278914 xref: UMLS:C1839277 xref: UMLS:C1845577 is_a: HP:0000202 ! Cleft lip/palate [Term] id: HP:0000209 name: Abnormality of the jaws namespace: medical_genetics def: "Any abnormality of the jaws." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0022359 xref: UMLS:C1704258 is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000211 name: Trismus namespace: medical_genetics def: "Limitation in the ability to open the mouth." [HPO:curators] xref: UMLS:C0041105 is_a: HP:0000209 ! Abnormality of the jaws [Term] id: HP:0000212 name: Gingival overgrowth namespace: medical_genetics alt_id: HP:0000195 def: "`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." [pmid:19125428] comment: This finding is to be distinguished from overgrowth of the alveolar ridge. synonym: "Gingival hyperplasia" EXACT [] synonym: "Gingival hypertrophy" EXACT [] synonym: "Gum hypertrophy" EXACT [] xref: UMLS:C0017566 xref: UMLS:C0017567 is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0000213 name: Thin lips namespace: medical_genetics def: "`Decreased thickness` (PATO:0000592) of the `lips` (FMA:59815)." [HPO:probinson] xref: UMLS:C0578038 is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000214 name: Lip telangiectasia namespace: medical_genetics def: "`telangiectasia` (MPATH:476) of the `lips` (FMA:59815)." [HPO:probinson] synonym: "Lip telangiectases" RELATED [] xref: UMLS:C1857697 is_a: HP:0000159 ! Lip abnormality is_a: HP:0007428 ! Telangiectasia on lips and oral mucosa [Term] id: HP:0000215 name: Thick upper lip vermilion namespace: medical_genetics 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. synonym: "Prominent upper lip" EXACT [] synonym: "Thick upper lip" EXACT [HPO:sdoelken] synonym: "Thin vermilion border of upper lip" EXACT [] synonym: "Thin vermillion border of upper lip" EXACT [] xref: UMLS:C0205168 xref: UMLS:C0205284 xref: UMLS:C0458582 xref: UMLS:C0545774 xref: UMLS:C1280388 xref: UMLS:C1280412 xref: UMLS:C1522411 xref: UMLS:C1846423 xref: UMLS:C1849947 xref: UMLS:C1968604 is_a: HP:0000177 ! Abnormality of upper lip is_a: HP:0000184 ! Prominent lips is_a: HP:0000219 ! Thin upper lip vermilion [Term] id: HP:0000216 name: Broad secondary alveolar ridge namespace: medical_genetics synonym: "Secondary alveolar ridges" EXACT [] xref: UMLS:C1839128 xref: UMLS:C1839276 is_a: HP:0000187 ! Broad alveolar ridges [Term] id: HP:0000217 name: Xerostomia namespace: medical_genetics alt_id: HP:0002709 def: "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators] synonym: "Dry mouth" EXACT [] xref: UMLS:C0043352 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000218 name: High palate namespace: medical_genetics 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: "Palate high-arched" EXACT [] xref: UMLS:C0205250 xref: UMLS:C0700374 xref: UMLS:C0741204 xref: UMLS:C1278914 xref: UMLS:C1299351 xref: UMLS:C1398297 xref: UMLS:C1538146 is_a: HP:0000174 ! Abnormality of palate [Term] id: HP:0000219 name: Thin upper lip vermilion namespace: medical_genetics 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. synonym: "Thin upper lip" EXACT [] synonym: "Thin vermilion border" RELATED [] xref: UMLS:C1865017 is_a: HP:0000177 ! Abnormality of upper lip is_a: HP:0000213 ! Thin lips [Term] id: HP:0000220 name: Velopharyngeal insufficiency namespace: medical_genetics synonym: "Velopharyngeal incompetence" EXACT [] xref: UMLS:C0042454 is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000221 name: Furrowed tongue namespace: medical_genetics 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. synonym: "Prominent tongue grooves" EXACT [] synonym: "Scrotal tongue" EXACT [] xref: UMLS:C0040408 xref: UMLS:C0040412 xref: UMLS:C0205402 xref: UMLS:C1184482 xref: UMLS:C1278913 xref: UMLS:C2137027 is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000222 name: Gingival hyperkeratosis namespace: medical_genetics alt_id: HP:0007539 def: "`Hyperkeratosis` (MPATH:154) of the `gingiva` (FMA:59762)." [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:C0017562 xref: UMLS:C0870082 xref: UMLS:C1298996 xref: UMLS:C1857013 is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0000223 name: Abnormality of taste sensation namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0039336 xref: UMLS:C1704258 is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0001333 ! Abnormality of the sensory nervous system [Term] id: HP:0000224 name: Decreased taste sensation namespace: medical_genetics synonym: "Decreased taste" EXACT [] xref: UMLS:C1837498 xref: UMLS:C1857155 is_a: HP:0000223 ! Abnormality of taste sensation [Term] id: HP:0000225 name: Gingival bleeding namespace: medical_genetics def: "`Hemorrhage` (MPATH:119) affecting the `gingiva` (FMA:59762)." [HPO:ibailleulforestier] xref: UMLS:C0017565 is_a: HP:0000167 ! Oral bleeding is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0000227 name: Tongue telangiectases namespace: medical_genetics xref: UMLS:C1857698 is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0000228 ! Teleangiectases in oral cavity [Term] id: HP:0000228 name: Teleangiectases in oral cavity namespace: medical_genetics xref: UMLS:C0226896 xref: UMLS:C1278910 is_a: HP:0000163 ! Abnormality of the oral cavity is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000230 name: Gingivitis namespace: medical_genetics def: "`Inflammation` (MPATH:212) of the `gingiva` (FMA:59762)." [HPO:probinson] xref: UMLS:C0017574 is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0000232 name: Everted lower lip vermilion namespace: medical_genetics def: "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." [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. synonym: "Drooping lower lip" EXACT [] synonym: "Everted lower lip" EXACT [] xref: UMLS:C0424485 xref: UMLS:C0441994 is_a: HP:0000178 ! Abnormality of lower lip [Term] id: HP:0000233 name: Thin vermillion border namespace: medical_genetics synonym: "Thin vermillion" EXACT [] xref: UMLS:C1849947 xref: UMLS:C1855291 is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000234 name: Abnormality of the head namespace: medical_genetics def: "An abnormality of the `head` (FMA:7154)." [HPO:probinson] synonym: "Head abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0018670 xref: UMLS:C1281590 xref: UMLS:C1704258 is_a: HP:0000152 ! Abnormality of head and neck [Term] id: HP:0000235 name: Abnormality of the fontanelles and cranial sutures namespace: medical_genetics 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:curators] xref: UMLS:C0000768 xref: UMLS:C0010272 xref: UMLS:C0224548 xref: UMLS:C1704258 is_a: HP:0002683 ! Abnormality of the calvarium [Term] id: HP:0000236 name: Abnormality of the anterior fontanelle namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0224549 xref: UMLS:C1305081 xref: UMLS:C1704258 is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0000237 name: Small anterior fontanelle namespace: medical_genetics def: "Abnormally decreased size of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] synonym: "Small anterior fontanel" EXACT [] xref: UMLS:C1859455 is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0000238 name: Hydrocephalus namespace: medical_genetics 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." [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: UMLS:C0020255 xref: UMLS:C1963137 is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0000239 name: Large fontanelles namespace: medical_genetics 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:curators] synonym: "Enlarged fontanelles" EXACT [] synonym: "Large fontanel" EXACT [] synonym: "Large fontanelle" EXACT [] synonym: "Large fontanels" EXACT [] synonym: "Wide fontanelles" EXACT [] xref: UMLS:C0456132 is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0000240 name: Abnormality of skull size namespace: medical_genetics def: "Any abnormality of the size of the skull." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0037303 xref: UMLS:C0456389 xref: UMLS:C1704258 is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0000241 name: Deceleration of head growth namespace: medical_genetics synonym: "Postnatal deceleration of head circumference" EXACT [] xref: UMLS:C0011100 xref: UMLS:C0018270 xref: UMLS:C0018670 xref: UMLS:C0220844 xref: UMLS:C0262499 xref: UMLS:C0443281 xref: UMLS:C0547796 xref: UMLS:C1281590 xref: UMLS:C1457898 xref: UMLS:C1621966 xref: UMLS:C2145637 is_a: HP:0000252 ! Microcephaly [Term] id: HP:0000242 name: Parietal bossing namespace: medical_genetics def: "Parietal bossing is an unusual prominence in the parietal region." [HPO:curators] synonym: "Biparietal bossing" EXACT [] synonym: "Bossing of parietal bone" EXACT [] xref: UMLS:C0030558 xref: UMLS:C1279053 xref: UMLS:C1856227 xref: UMLS:C1857126 is_a: HP:0002696 ! Abnormality of the parietal bone [Term] id: HP:0000243 name: Trigonocephaly namespace: medical_genetics 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. xref: UMLS:C0265535 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000244 name: Brachyturricephaly namespace: medical_genetics synonym: "Turribrachycephaly" EXACT [] xref: UMLS:C1843494 xref: UMLS:C1857484 is_a: HP:0000248 ! Brachycephaly is_a: HP:0000262 ! Turricephaly [Term] id: HP:0000245 name: Abnormality of the sinuses namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0030471 xref: UMLS:C1704258 is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0000246 name: Sinusitis namespace: medical_genetics xref: UMLS:C0037199 is_a: HP:0000245 ! Abnormality of the sinuses [Term] id: HP:0000247 name: Posterior flattening of the skull namespace: medical_genetics xref: UMLS:C0016203 xref: UMLS:C0037303 xref: UMLS:C0205095 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000248 name: Brachycephaly namespace: medical_genetics def: "Cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width." [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. xref: UMLS:C0221356 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000250 name: Dense calvaria namespace: medical_genetics def: "An abnormal increase of density of the bones making up the calvaria." [HPO:curators] xref: UMLS:C1854834 is_a: HP:0002683 ! Abnormality of the calvarium is_a: HP:0004330 ! Increased skull ossification [Term] id: HP:0000252 name: Microcephaly namespace: medical_genetics alt_id: HP:0001366 alt_id: HP:0005485 alt_id: HP:0005489 alt_id: HP:0005497 def: "Occipito-frontal (head) circumference (OFC) less than 3rd centile compared to appropriate, age matched, normal standards . Alternatively, an apparently decreased size of the `cranium` (FMA:46565)." [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 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. synonym: "Decreased head circumference" EXACT [] synonym: "Microcephaly, mild" EXACT [] synonym: "Reduced head circumference" EXACT [] synonym: "Small head circumference" EXACT [] xref: UMLS:C0025958 xref: UMLS:C0262499 xref: UMLS:C0332520 xref: UMLS:C0424688 xref: UMLS:C0547040 xref: UMLS:C0547796 xref: UMLS:C0700321 xref: UMLS:C1842059 xref: UMLS:C1845868 xref: UMLS:C2145637 is_a: HP:0000240 ! Abnormality of skull size is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0000253 name: Microcephaly, progressive namespace: medical_genetics def: "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:curators] synonym: "Microcephaly, postnatal, progressive" EXACT [] xref: UMLS:C0025958 xref: UMLS:C0205329 xref: UMLS:C0443281 is_a: HP:0000252 ! Microcephaly [Term] id: HP:0000255 name: Acute sinusitis namespace: medical_genetics xref: UMLS:C0149512 is_a: HP:0000246 ! Sinusitis [Term] id: HP:0000256 name: Macrocephaly namespace: medical_genetics 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` (FMA:46565)." [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. synonym: "Increased head circumference" EXACT [] synonym: "Large head" EXACT [] synonym: "Large head circumference" EXACT [] synonym: "Macrocrania" EXACT [] xref: UMLS:C0020496 xref: UMLS:C0221355 xref: UMLS:C1834763 xref: UMLS:C1839637 xref: UMLS:C1848990 xref: UMLS:C2243051 is_a: HP:0000240 ! Abnormality of skull size [Term] id: HP:0000258 name: Scaphocephaly namespace: medical_genetics def: "An abnormality of head shape characterized by a long, narrow head shape, often due to premature closure of the sagittal suture." [HPO:curators] xref: UMLS:C0265534 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000259 name: Microcephaly, acquired namespace: medical_genetics xref: UMLS:C0025958 xref: UMLS:C0439661 is_a: HP:0000252 ! Microcephaly [Term] id: HP:0000260 name: Wide anterior fontanel namespace: medical_genetics 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 open anterior fontanel" EXACT [] synonym: "Large open anterior fontanelle" EXACT [] synonym: "Wide anterior fontanelle" EXACT [] synonym: "Wide open anterior fontanelle" EXACT [] xref: UMLS:C1837886 xref: UMLS:C1856772 xref: UMLS:C1866134 xref: UMLS:C1970466 is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0000262 name: Turricephaly namespace: medical_genetics 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. xref: UMLS:C0030044 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000263 name: Oyxcephaly namespace: medical_genetics 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 is_a: HP:0000262 ! Turricephaly [Term] id: HP:0000264 name: Abnormality of the mastoid namespace: medical_genetics def: "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." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0446908 xref: UMLS:C1521748 xref: UMLS:C1704258 xref: UMLS:C2228459 is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0000265 name: Mastoiditis namespace: medical_genetics xref: UMLS:C0024904 is_a: HP:0000264 ! Abnormality of the mastoid [Term] id: HP:0000267 name: Cranial asymmetry namespace: medical_genetics def: "Asymmetry of the bones of the skull." [HPO:curators] xref: UMLS:C1860245 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000268 name: Dolichocephaly namespace: medical_genetics def: "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." [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). synonym: "Large dolichocephalic skull" EXACT [] xref: UMLS:C0221358 xref: UMLS:C1854767 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000269 name: Prominent occiput namespace: medical_genetics 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. xref: UMLS:C1853737 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000270 name: Delayed closure of fontanelles namespace: medical_genetics alt_id: HP:0002704 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:curators] synonym: "Broad late closing cranial sutures" EXACT [] synonym: "Delayed closure of cranial sutures" EXACT [] synonym: "Delayed closure of fontanel" 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 [] xref: UMLS:C0010272 xref: UMLS:C0185003 xref: UMLS:C0205087 xref: UMLS:C0205421 xref: UMLS:C0224548 xref: UMLS:C1096211 xref: UMLS:C1305726 xref: UMLS:C1521802 xref: UMLS:C1863376 xref: UMLS:C1867993 xref: UMLS:C2228443 is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0000271 name: Abnormality of the face namespace: medical_genetics def: "An abnormality of the `face` (FMA:24728)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0015450 xref: UMLS:C1281591 xref: UMLS:C1704258 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0000272 name: Malar hypoplasia namespace: medical_genetics 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 def: "Underdeveloped midface region." [HPO:curators] synonym: "Flat face" EXACT [] synonym: "Flat facial profile" EXACT [] synonym: "Flat facies" EXACT [] synonym: "Flat midface" EXACT [] synonym: "Hypoplastic zygomatic arch" EXACT [] synonym: "Mid-face hypoplasia" EXACT [] synonym: "Midface hypoplasia" EXACT [] synonym: "Zygomatic arch hypoplasia" EXACT [] xref: UMLS:C0015450 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1281591 xref: UMLS:C1835154 xref: UMLS:C1836641 xref: UMLS:C1837885 xref: UMLS:C1849339 xref: UMLS:C1853241 xref: UMLS:C1853242 xref: UMLS:C1855001 xref: UMLS:C1858085 is_a: HP:0001999 ! Facial dysmorphism is_a: HP:0005557 ! Abnormality of the zygomatic arch [Term] id: HP:0000273 name: Facial grimacing namespace: medical_genetics xref: UMLS:C0234853 is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0000274 name: Small face namespace: medical_genetics synonym: "Small facies" EXACT [] xref: UMLS:C1849786 xref: UMLS:C1855538 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000275 name: Narrow face namespace: medical_genetics synonym: "Narrow facies" EXACT [] xref: UMLS:C1837463 xref: UMLS:C1861323 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000276 name: Long face namespace: medical_genetics xref: UMLS:C1836047 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000277 name: Abnormality of the mandible namespace: medical_genetics def: "Any abnormality of the mandible, the bone of the lower jaw." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0024687 xref: UMLS:C1279059 xref: UMLS:C1704258 xref: UMLS:C2239125 is_a: HP:0000209 ! Abnormality of the jaws [Term] id: HP:0000278 name: Retrognathia namespace: medical_genetics alt_id: HP:0002954 synonym: "Receding mandible" EXACT [] xref: UMLS:C0024687 xref: UMLS:C0035353 xref: UMLS:C0333047 xref: UMLS:C1279059 xref: UMLS:C2239125 is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0000280 name: Coarse facial features namespace: medical_genetics synonym: "Coarse face" EXACT [] synonym: "Coarse facies" EXACT [] xref: UMLS:C0239539 xref: UMLS:C1845847 xref: UMLS:C1854600 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000281 name: Mildly coarse facies namespace: medical_genetics synonym: "Mild coarse facies" EXACT [] synonym: "Mildly coarse facial features" EXACT [] synonym: "Mildly coarsened facial features" EXACT [] xref: UMLS:C0547040 xref: UMLS:C0750532 xref: UMLS:C0871976 xref: UMLS:C1854765 xref: UMLS:C1854781 xref: UMLS:C1854832 is_a: HP:0000280 ! Coarse facial features [Term] id: HP:0000282 name: Facial edema namespace: medical_genetics xref: UMLS:C0542571 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0000969 ! Edema [Term] id: HP:0000283 name: Broad face namespace: medical_genetics xref: UMLS:C1859680 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000284 name: Abnormality of the ocular region namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0017446 xref: UMLS:C0205147 xref: UMLS:C1299003 xref: UMLS:C1704258 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000286 name: Epicanthus namespace: medical_genetics def: "An epicanthal fold is a semilunar fold of skin that extends from the upper eyelid across the medial canthal area to the lower eyelid." [HPO:curators] synonym: "Epicanthal fold" EXACT [] synonym: "Epicanthal folds" EXACT [] synonym: "Epicanthic folds" EXACT [] xref: UMLS:C0185026 xref: UMLS:C0229249 xref: UMLS:C0332462 xref: UMLS:C0678230 xref: UMLS:C1880834 is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000287 name: Normal or increased facial adipose tissue namespace: medical_genetics xref: UMLS:C0001527 xref: UMLS:C0015450 xref: UMLS:C0205217 xref: UMLS:C0205307 xref: UMLS:C0439166 xref: UMLS:C0442805 xref: UMLS:C0524465 xref: UMLS:C2347086 is_a: HP:0000291 ! Abnormality of facial adipose tissue [Term] id: HP:0000288 name: Abnormality of the philtrum namespace: medical_genetics def: "An abnormality of the `philtrum` (FMA:59819)." [HPO:probinson] synonym: "Abnormal philtrum" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0226931 xref: UMLS:C1704258 xref: UMLS:C1857045 is_a: HP:0000177 ! Abnormality of upper lip [Term] id: HP:0000289 name: Wide philtrum namespace: medical_genetics xref: UMLS:C1854111 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000290 name: Abnormality of the forehead namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0016540 xref: UMLS:C1704258 xref: UMLS:C2226974 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000291 name: Abnormality of facial adipose tissue namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0001527 xref: UMLS:C0015450 xref: UMLS:C0524465 xref: UMLS:C1704258 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0009124 ! Abnormality of adipose tissue [Term] id: HP:0000292 name: Loss of facial adipose tissue namespace: medical_genetics 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 [] xref: UMLS:C0001527 xref: UMLS:C0015450 xref: UMLS:C0222331 xref: UMLS:C0524465 xref: UMLS:C1281591 xref: UMLS:C1517945 is_a: HP:0000291 ! Abnormality of facial adipose tissue [Term] id: HP:0000293 name: Full cheeks namespace: medical_genetics xref: UMLS:C1866231 is_a: HP:0004426 ! Abnormality of the cheeks [Term] id: HP:0000294 name: Low anterior hairline namespace: medical_genetics 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. synonym: "Low frontal hairline" EXACT [] synonym: "Low-set frontal hairline" EXACT [] xref: UMLS:C1842366 xref: UMLS:C1853642 xref: UMLS:C1970372 is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0000295 name: 'Doll-like' facies namespace: medical_genetics xref: UMLS:C0015450 xref: UMLS:C0282631 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000297 name: Facial hypotonia namespace: medical_genetics xref: UMLS:C1845251 is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0000298 name: Mask-like facies namespace: medical_genetics synonym: "Masklike facies" EXACT [] xref: UMLS:C0424448 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0000299 name: Long, smooth philtrum namespace: medical_genetics xref: UMLS:C0205166 xref: UMLS:C0205357 xref: UMLS:C1706317 xref: UMLS:C1853621 xref: UMLS:C1865014 is_a: HP:0000319 ! Flat philtrum is_a: HP:0000343 ! Long philtrum [Term] id: HP:0000300 name: Oval face namespace: medical_genetics xref: UMLS:C1849025 is_a: HP:0000311 ! Round face [Term] id: HP:0000301 name: Abnormality of facial musculature namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0015450 xref: UMLS:C0524465 xref: UMLS:C1704258 xref: UMLS:C1995013 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000303 name: Mandibular prognathia namespace: medical_genetics alt_id: HP:0000251 alt_id: HP:0000279 alt_id: HP:0000328 alt_id: HP:0008514 def: "Abnormal prominence of the `chin` (FMA:46495) related to `increased length` (PATO:0000573) of the `mandible` (FMA:52748)." [HPO:curators] 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: "Relative mandibular prognathism" EXACT [] xref: UMLS:C0033324 xref: UMLS:C0080103 xref: UMLS:C0205345 xref: UMLS:C0266075 xref: UMLS:C1547039 xref: UMLS:C1837796 xref: UMLS:C1843324 xref: UMLS:C1857643 is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000304 name: Round, full face namespace: medical_genetics xref: UMLS:C0015450 xref: UMLS:C0332490 xref: UMLS:C0443225 xref: UMLS:C1281591 is_a: HP:0000311 ! Round face [Term] id: HP:0000305 name: Prominent philtrum namespace: medical_genetics xref: UMLS:C1846177 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000306 name: Abnormality of the chin namespace: medical_genetics def: "An abnormality of the `chin` (FMA:46495)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0008114 xref: UMLS:C1284862 xref: UMLS:C1704258 xref: UMLS:C2226982 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000307 name: Pointed chin namespace: medical_genetics xref: UMLS:C1842873 is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000308 name: Microretrognathia namespace: medical_genetics synonym: "Retromicrognathia" EXACT [] xref: UMLS:C1839546 xref: UMLS:C1849349 is_a: HP:0000278 ! Retrognathia is_a: HP:0000347 ! Mandibular hypoplasia [Term] id: HP:0000309 name: Abnormality of the midface namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1704258 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000310 name: Prominent midface namespace: medical_genetics xref: UMLS:C1858732 is_a: HP:0000309 ! Abnormality of the midface [Term] id: HP:0000311 name: Round face namespace: medical_genetics alt_id: HP:0004653 def: "An unusually round appearance of the face." [HPO:curators] synonym: "Round facial appearance" EXACT [] synonym: "Round facies" EXACT [] xref: UMLS:C0015450 xref: UMLS:C0282631 xref: UMLS:C0332490 xref: UMLS:C1281591 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000314 name: Bitemporal narrowing namespace: medical_genetics def: "A reduced distance between the temporal regions (temples) on each side of the head to one another." [HPO:curators] synonym: "Bitemporal narrowness" EXACT [] synonym: "Bitemporal skull narrowing" EXACT [] synonym: "Narrow bitemporal diameter" EXACT [] synonym: "Temporal narrowness" EXACT [] xref: UMLS:C0037303 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C0442043 xref: UMLS:C0445452 xref: UMLS:C1301886 xref: UMLS:C1839758 xref: UMLS:C2362314 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000315 name: Abnormality of the orbital region namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0700042 xref: UMLS:C1704258 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000316 name: Hypertelorism namespace: medical_genetics 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] synonym: "Hypertelorism, mild" EXACT [] synonym: "Increased interpupillary distance" EXACT [] synonym: "Marked hypertelorism" EXACT [] synonym: "Mild hypertelorism" EXACT [] synonym: "Ocular hypertelorism" EXACT [] synonym: "Wide-set eyes" EXACT [] xref: UMLS:C0015392 xref: UMLS:C0020534 xref: UMLS:C0036849 xref: UMLS:C0205217 xref: UMLS:C0332464 xref: UMLS:C0442805 xref: UMLS:C0547040 xref: UMLS:C1275637 xref: UMLS:C1442518 xref: UMLS:C1854711 xref: UMLS:C1855908 is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0000317 name: Facial myokymia namespace: medical_genetics 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. synonym: "Facial myokymia, mild" EXACT [] xref: UMLS:C0270871 xref: UMLS:C0547040 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0002411 ! Myokymia [Term] id: HP:0000318 name: Long, narrow facies namespace: medical_genetics synonym: "Long narrow face" EXACT [] synonym: "Long, narrow face" EXACT [] xref: UMLS:C0205166 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1706317 xref: UMLS:C1836047 xref: UMLS:C1837463 xref: UMLS:C1848656 xref: UMLS:C1861323 is_a: HP:0000275 ! Narrow face [Term] id: HP:0000319 name: Flat philtrum namespace: medical_genetics synonym: "Smooth philtrum" EXACT [] xref: UMLS:C1142533 xref: UMLS:C1853621 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000320 name: Bird-like facies namespace: medical_genetics xref: UMLS:C1837758 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000321 name: Square face namespace: medical_genetics xref: UMLS:C1832127 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000322 name: Short philtrum namespace: medical_genetics xref: UMLS:C1861324 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000323 name: Long, flat philtrum namespace: medical_genetics xref: UMLS:C0205166 xref: UMLS:C0205324 xref: UMLS:C0457933 xref: UMLS:C1142533 xref: UMLS:C1706317 xref: UMLS:C1865014 is_a: HP:0000319 ! Flat philtrum is_a: HP:0000343 ! Long philtrum [Term] id: HP:0000324 name: Facial asymmetry namespace: medical_genetics xref: UMLS:C0546952 xref: UMLS:C1306710 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000325 name: Triangular facies namespace: medical_genetics synonym: "Triangular face" EXACT [] xref: UMLS:C1835884 xref: UMLS:C1842709 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000326 name: Abnormality of the maxilla namespace: medical_genetics def: "An abnormality of the `Maxilla` (FMA:9711) (upper jaw bone)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0024947 xref: UMLS:C1279060 xref: UMLS:C1704258 xref: UMLS:C2239124 is_a: HP:0000209 ! Abnormality of the jaws [Term] id: HP:0000327 name: Hypoplasia of the maxilla namespace: medical_genetics def: "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] synonym: "Hypoplastic maxilla" EXACT [] synonym: "Hypoplastic maxillary bones" EXACT [] synonym: "Maxillar hypoplasia" EXACT [] synonym: "Small maxilla" EXACT [] xref: UMLS:C0024947 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1279060 xref: UMLS:C1844602 xref: UMLS:C1848975 xref: UMLS:C1855002 xref: UMLS:C1856269 xref: UMLS:C2239124 is_a: HP:0009117 ! Aplasia/Hypoplasia of the maxilla [Term] id: HP:0000329 name: Facial hemangioma namespace: medical_genetics def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face." [HPO:curators] synonym: "Facial hemangiomata" EXACT [] xref: UMLS:C1847881 xref: UMLS:C1861443 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0001028 ! Hemangiomas [Term] id: HP:0000330 name: Mild micrognathia namespace: medical_genetics alt_id: HP:0004669 synonym: "Micrognathia, mild" EXACT [] xref: UMLS:C0025990 xref: UMLS:C0547040 xref: UMLS:C1854683 is_a: HP:0000347 ! Mandibular hypoplasia [Term] id: HP:0000331 name: Small chin namespace: medical_genetics xref: UMLS:C1839323 is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000333 name: Full forehead namespace: medical_genetics xref: UMLS:C1856597 is_a: HP:0002007 ! Frontal bossing [Term] id: HP:0000334 name: Long, thin face namespace: medical_genetics xref: UMLS:C0205166 xref: UMLS:C0205168 xref: UMLS:C1706317 xref: UMLS:C1836047 xref: UMLS:C1849121 is_a: HP:0000276 ! Long face [Term] id: HP:0000335 name: Wizened face namespace: medical_genetics xref: UMLS:C1857710 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000336 name: Prominent supraorbital ridges namespace: medical_genetics def: "Abnormal prominence of the supraorbital ridges, which are bony ridge located above the eye sockets in the area of the eyebrows." [HPO:curators] synonym: "Prominent supraorbital ridge" EXACT [] xref: UMLS:C1839815 xref: UMLS:C1842060 is_a: HP:0100538 ! Abnormality of the supraorbital ridges [Term] id: HP:0000337 name: Broad forehead namespace: medical_genetics alt_id: HP:0000352 def: "Abnormally large side-to-side distance of the forehead." [HPO:curators] synonym: "Wide forehead" EXACT [] xref: UMLS:C1849089 xref: UMLS:C1855408 is_a: HP:0002007 ! Frontal bossing [Term] id: HP:0000338 name: Hypomimic face namespace: medical_genetics xref: UMLS:C1837824 is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0000339 name: 'Pugilistic facies' namespace: medical_genetics xref: UMLS:C1846011 is_a: HP:0000280 ! Coarse facial features [Term] id: HP:0000340 name: Sloping forehead namespace: medical_genetics alt_id: HP:0000351 def: "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators] synonym: "Receding forehead" EXACT [] xref: UMLS:C0016540 xref: UMLS:C0333047 xref: UMLS:C1857679 xref: UMLS:C2226974 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000341 name: Narrow forehead namespace: medical_genetics def: "An abnormally reduced side-to-side width of the forehead." [HPO:curators] xref: UMLS:C1839127 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000342 name: High, sloping forehead namespace: medical_genetics synonym: "High, protruding forehead" EXACT [] xref: UMLS:C0205250 xref: UMLS:C0239676 xref: UMLS:C0333056 xref: UMLS:C1299351 xref: UMLS:C1857679 is_a: HP:0000340 ! Sloping forehead is_a: HP:0000348 ! High forehead [Term] id: HP:0000343 name: Long philtrum namespace: medical_genetics xref: UMLS:C1865014 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000345 name: Severe micrognathia namespace: medical_genetics xref: UMLS:C1844698 is_a: HP:0000347 ! Mandibular hypoplasia [Term] id: HP:0000346 name: 'Whistling' Appearance namespace: medical_genetics xref: UMLS:C1848473 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000347 name: Mandibular hypoplasia namespace: medical_genetics alt_id: HP:0000210 alt_id: HP:0002005 alt_id: HP:0002674 alt_id: HP:0005460 def: "Underdevelopment of the mandible." [HPO:curators] comment: Mandibular hypoplasia, also known as micrognathia, is a term that describes an abnormally small lower jaw. synonym: "Hypoplastic mandible" EXACT [] synonym: "Hypoplastic mandible condyle" EXACT [] synonym: "Micrognathia" EXACT [] synonym: "Small jaw" EXACT [] synonym: "Small mandible" EXACT [] xref: UMLS:C0025990 xref: UMLS:C0240295 xref: UMLS:C1857130 xref: UMLS:C1865569 xref: UMLS:C1866485 is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible [Term] id: HP:0000348 name: High forehead namespace: medical_genetics def: "An abnormally increased height of the forehead." [HPO:curators] xref: UMLS:C0239676 is_a: HP:0002007 ! Frontal bossing [Term] id: HP:0000349 name: Widow's peak namespace: medical_genetics 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. xref: UMLS:C0444505 xref: UMLS:C1510465 is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0000350 name: Small forehead namespace: medical_genetics def: "The presence of a forehead that is abnormally small." [HPO:curators] xref: UMLS:C1845250 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000353 name: Facial muscle weakness, mild namespace: medical_genetics def: "Mild facial weakness related to malfunction of the facial nerve (cranial nerve VII)." [HPO:curators] synonym: "Mild facial weakness" EXACT [] xref: UMLS:C0427055 xref: UMLS:C0547040 xref: UMLS:C1837243 is_a: HP:0010628 ! Facial nerve palsy [Term] id: HP:0000354 name: High, broad forehead namespace: medical_genetics def: "Abnormally large horizontal and vertical dimensions of the forehead." [HPO:curators] synonym: "Tall, broad forehead" EXACT [] xref: UMLS:C0205250 xref: UMLS:C0239676 xref: UMLS:C0332464 xref: UMLS:C1299351 xref: UMLS:C1855408 is_a: HP:0000337 ! Broad forehead is_a: HP:0000348 ! High forehead [Term] id: HP:0000355 name: Hypoaldosteronism namespace: medical_genetics xref: UMLS:C0020595 is_a: HP:0004319 ! Decreased aldosterone production [Term] id: HP:0000356 name: Abnormality of the outer ear namespace: medical_genetics alt_id: HP:0001752 def: "An abnormality of the `external ear` (FMA:52781)." [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:C0000768 xref: UMLS:C0013453 xref: UMLS:C0266589 xref: UMLS:C0869645 xref: UMLS:C0928075 xref: UMLS:C1704258 xref: UMLS:C1846460 xref: UMLS:C1857681 xref: UMLS:C1862051 is_a: HP:0000598 ! Abnormality of the ear [Term] id: HP:0000357 name: Abnormal location of ears namespace: medical_genetics def: "Abnormal location of the `ears` (FMA:52780)." [HPO:probinson] xref: UMLS:C0013443 xref: UMLS:C0205161 xref: UMLS:C0450429 xref: UMLS:C0521421 xref: UMLS:C1414437 xref: UMLS:C1515974 xref: UMLS:C2347472 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000358 name: Posteriorly rotated ears namespace: medical_genetics def: "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)." [HPO:probinson] 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: UMLS:C0205095 xref: UMLS:C0231458 xref: UMLS:C0431478 xref: UMLS:C1840383 xref: UMLS:C1849365 is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0000359 name: Abnormality of the inner ear namespace: medical_genetics def: "An abnormality of the `inner ear` (FMA:60909)." [HPO:probinson] synonym: "Inner ear abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0022889 xref: UMLS:C1268973 xref: UMLS:C1704258 xref: UMLS:C2087463 is_a: HP:0000598 ! Abnormality of the ear [Term] id: HP:0000360 name: Tinnitus namespace: medical_genetics 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] xref: UMLS:C0040264 xref: UMLS:C1963249 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000361 name: Pulsatile tinnitus (tympanic paraganglioma) namespace: medical_genetics def: "Pulsatile tinnitus related to a tympanic paraganglioma, which is a benign neoplasm of the middle ear." [HPO:probinson] xref: UMLS:C0474820 xref: UMLS:C0751559 is_a: HP:0002864 ! Paraganglioma of head and neck is_a: HP:0008629 ! Pulsatile tinnitus [Term] id: HP:0000362 name: Otosclerosis namespace: medical_genetics xref: UMLS:C0029899 is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0000363 name: Abnormality of ear lobes namespace: medical_genetics synonym: "Abnormal earlobes" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0205161 xref: UMLS:C0229315 xref: UMLS:C1704258 xref: UMLS:C2347472 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000364 name: Hearing abnormality namespace: medical_genetics def: "An abnormality of the `sensory perception of sound` (GO:0007605)." [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. xref: UMLS:C0000768 xref: UMLS:C0018767 xref: UMLS:C0018786 xref: UMLS:C1455844 xref: UMLS:C1704258 xref: UMLS:C2015933 is_a: HP:0000598 ! Abnormality of the ear [Term] id: HP:0000365 name: Hearing impairment namespace: medical_genetics alt_id: HP:0001754 alt_id: HP:0008560 def: "A `decreased magnitude` (PATO:0002018) of the `sensory perception of sound` (GO:0007605)." [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. In the HPO, following the definition of the World Health Organization, we use 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: "Hearing defect" EXACT [] synonym: "Hearing loss" RELATED [] synonym: "Sensorineural, conductive, or mixed hearing loss" BROAD [] xref: UMLS:C0004927 xref: UMLS:C0018767 xref: UMLS:C0018786 xref: UMLS:C0155552 xref: UMLS:C0205082 xref: UMLS:C1384666 xref: UMLS:C1455844 xref: UMLS:C1457869 xref: UMLS:C1519275 xref: UMLS:C1861101 xref: UMLS:C2015933 xref: UMLS:C2029884 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000366 name: Abnormality of the nose namespace: medical_genetics def: "An abnormality of the `nose` (FMA:46472)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0028429 xref: UMLS:C1278896 xref: UMLS:C1704258 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000367 name: Conductive deafness namespace: medical_genetics def: "The complete `absence` (PATO:0000462) of `sensory perception of sound` (GO:0007605) related to impairment of `vibrational conductance of sound to the inner ear` (GO:0055127)." [HPO:probinson] comment: A conductive hearing impariment with greater than 90 dB loss. synonym: "Conduction deafness" EXACT [] xref: UMLS:C0018777 is_a: HP:0000404 ! Deafness is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0000368 name: Low-set, posteriorly rotated ears namespace: medical_genetics synonym: "Low-set posteriorly rotated ears" EXACT [] xref: UMLS:C1857486 is_a: HP:0000358 ! Posteriorly rotated ears is_a: HP:0000369 ! Low-set ears [Term] id: HP:0000369 name: Low-set ears namespace: medical_genetics def: "Low-set ears are defined to be set below an arbitrary line drawn between the lateral canthus of the eye and the occipital protruberance." [HPO:curators] synonym: "Low set ears" EXACT [] synonym: "Lowset ears" EXACT [] xref: UMLS:C0239234 xref: UMLS:C1855489 is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0000370 name: Abnormality of the middle ear namespace: medical_genetics def: "An abnormality of the `middle ear` (FMA:56513)." [HPO:probinson] synonym: "Middle ear abnormalities" EXACT [] synonym: "Middle ear abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0013455 xref: UMLS:C1268972 xref: UMLS:C1704258 xref: UMLS:C1861141 xref: UMLS:C2228461 is_a: HP:0000598 ! Abnormality of the ear [Term] id: HP:0000371 name: Acute otitis media namespace: medical_genetics xref: UMLS:C0271429 is_a: HP:0000388 ! Otitis media [Term] id: HP:0000372 name: Abnormality of the auditory canal namespace: medical_genetics def: "An abnormality of the `External acoustic tube` (FMA:61734) (also known as the auditory canal)." [HPO:probinson] synonym: "Auditory canal abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0013444 xref: UMLS:C1704258 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000375 name: Abnormality of cochlea namespace: medical_genetics def: "An abnormality of the `cochlea` (FMA:60201)." [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. xref: UMLS:C0000768 xref: UMLS:C0009195 xref: UMLS:C1278895 xref: UMLS:C1704258 is_a: HP:0000359 ! Abnormality of the inner ear [Term] id: HP:0000376 name: Mondini malformation namespace: medical_genetics def: "The normal cochlea has two and one half turns. Mondini malformation refers to the development of only one and a half turns of the `cochlea` (FMA:60201). The defect usually occurs in the seventh week of gestation after development of the basal turn. There is incomplete partition with resulting confluency of the middle and apical turns." [HPO:probinson] comment: Incomplete cochlea. xref: UMLS:C1857078 is_a: HP:0008554 ! Cochlear malformation is_a: HP:0008586 ! Hypoplasia of the cochlea [Term] id: HP:0000377 name: Abnormality of the pinna namespace: medical_genetics alt_id: HP:0008566 alt_id: HP:0008567 alt_id: HP:0008582 def: "An abnormality of the `pinna` (FMA:56580), which is also referred to as the auricle." [HPO:probinson] synonym: "Abnormally shaped ears" EXACT [] synonym: "Auricular malformation" EXACT [] synonym: "Deformed auricles" EXACT [] synonym: "Deformed ears" EXACT [] synonym: "Malformed auricles" EXACT [] synonym: "Malformed ears" EXACT [] synonym: "Malformed external ears" EXACT [] xref: UMLS:C0013443 xref: UMLS:C0013453 xref: UMLS:C0205101 xref: UMLS:C0333067 xref: UMLS:C0439172 xref: UMLS:C0521421 xref: UMLS:C0857379 xref: UMLS:C0928075 xref: UMLS:C1414437 xref: UMLS:C1858566 xref: UMLS:C1859211 xref: UMLS:C1866964 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000378 name: Cup-shaped ears namespace: medical_genetics def: "Small auricles that grow forward over the meatus (ear canal)." [HPO:curators] synonym: "Cupped ears" EXACT [] xref: UMLS:C1845447 xref: UMLS:C1864799 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000379 name: Small, simple ears namespace: medical_genetics xref: UMLS:C0205352 xref: UMLS:C0431483 xref: UMLS:C0700321 xref: UMLS:C1864797 is_a: HP:0000390 ! Simple ears [Term] id: HP:0000381 name: Stapes ankylosis namespace: medical_genetics xref: UMLS:C0003090 xref: UMLS:C0038152 xref: UMLS:C1280695 is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0000382 name: Large, prominent ears namespace: medical_genetics synonym: "Large prominent ears" EXACT [] synonym: "Large, prominent pinnae" EXACT [] xref: UMLS:C0205402 xref: UMLS:C1850189 xref: UMLS:C1860838 is_a: HP:0000400 ! Large ears [Term] id: HP:0000383 name: Abnormality of periauricular region namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0017446 xref: UMLS:C0205147 xref: UMLS:C1704258 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000384 name: Preauricular skin tag namespace: medical_genetics alt_id: HP:0008575 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:curators] 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:C0205409 xref: UMLS:C0266609 xref: UMLS:C0439844 xref: UMLS:C0444099 xref: UMLS:C0682559 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C1860816 xref: UMLS:C1999244 is_a: HP:0010609 ! Skin tags is_a: HP:0100278 ! Periauricular skin tag [Term] id: HP:0000385 name: Hypoplastic ear lobes namespace: medical_genetics synonym: "Hypoplastic earlobes" EXACT [] synonym: "Hypoplastic lobules" EXACT [] xref: UMLS:C0543481 xref: UMLS:C1842680 xref: UMLS:C1845848 is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes [Term] id: HP:0000386 name: Large, floppy ears namespace: medical_genetics xref: UMLS:C0554972 xref: UMLS:C0857516 is_a: HP:0000400 ! Large ears [Term] id: HP:0000387 name: Lobeless ears namespace: medical_genetics xref: UMLS:C1849364 is_a: HP:0000363 ! Abnormality of ear lobes [Term] id: HP:0000388 name: Otitis media namespace: medical_genetics xref: UMLS:C0029882 is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0000389 name: Chronic otitis media namespace: medical_genetics xref: UMLS:C0271441 is_a: HP:0000388 ! Otitis media [Term] id: HP:0000390 name: Simple ears namespace: medical_genetics xref: UMLS:C0431483 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000391 name: Thickened helices namespace: medical_genetics def: "`Increased thickness` (PATO:0000591) of the`helix` (FMA:60992) of the ear." [HPO:probinson] xref: UMLS:C1842874 is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0000393 name: Microtia namespace: medical_genetics xref: UMLS:C0152423 xref: UMLS:C1657142 is_a: HP:0008551 ! Hypoplasia of the external ear [Term] id: HP:0000394 name: Lop ears namespace: medical_genetics def: "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." [HPO:curators] xref: UMLS:C0266614 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000395 name: Prominent antihelix namespace: medical_genetics def: "The presence of an abnormally `prominent` (PATO:0001482) `antihelix` (FMA:60995)." [HPO:probinson] xref: UMLS:C1845272 is_a: HP:0009738 ! Abnormality of the antihelix [Term] id: HP:0000396 name: Overfolded helix namespace: medical_genetics alt_id: HP:0001758 def: "A condition in which the `helix` (FMA:60992) is `folded` (PATO:0001910) over to a greater degree than normal." [HPO:probinson] synonym: "Over-folded helices" EXACT [] synonym: "Overfolded ears" EXACT [] synonym: "Overfolded helices" EXACT [] xref: UMLS:C1837731 xref: UMLS:C1845803 xref: UMLS:C1864798 is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0000398 name: Dysplastic ears namespace: medical_genetics def: "The presence of ` developmental dysplasia` (MPATH:64) of the `external ear` (FMA:52781)." [HPO:probinson] xref: UMLS:C1844841 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000399 name: Prelingual sensorineural deafness namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Deafness, sensorineural, prelingual, profound" EXACT [] xref: UMLS:C0011053 xref: UMLS:C0439808 xref: UMLS:C0581883 is_a: HP:0008538 ! Sensorineural deafness [Term] id: HP:0000400 name: Large ears namespace: medical_genetics synonym: "Large pinnae" EXACT [] xref: UMLS:C0554972 xref: UMLS:C1850189 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000401 name: Large, dysplastic ears namespace: medical_genetics synonym: "Large dysplastic ears" EXACT [] xref: UMLS:C1855062 is_a: HP:0000400 ! Large ears [Term] id: HP:0000402 name: Stenotic external auditory canal namespace: medical_genetics alt_id: HP:0000373 def: "An abnormal narrowing of the external auditory canal." [HPO:curators] 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 canals" EXACT [] xref: UMLS:C0013444 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C0395837 xref: UMLS:C1866191 xref: UMLS:C2228437 is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0000403 name: Recurrent otitis media namespace: medical_genetics synonym: "Frequent otitis media" EXACT [] synonym: "Multiple episodes of otitis media" EXACT [] synonym: "Recurrent episodes of otitis media" EXACT [] xref: UMLS:C0029882 xref: UMLS:C0443287 xref: UMLS:C0565960 xref: UMLS:C0747085 xref: UMLS:C1834952 is_a: HP:0000388 ! Otitis media is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0000404 name: Deafness namespace: medical_genetics def: "A complete `absence` ( PATO:0000462) of the ability for `sensory perception of sound` (GO:0007605) in one or both ears." [HPO:probinson] xref: UMLS:C0011053 xref: UMLS:C0581883 is_a: HP:0000365 ! Hearing impairment [Term] id: HP:0000405 name: Conductive hearing impairment namespace: medical_genetics def: "An abnormality of `vibrational conductance of sound to the inner ear` (GO:0055127) leading to impairment of `sensory perception of sound` (GO:0007605)." [HPO:probinson] synonym: "Conductive hearing loss" EXACT [] synonym: "Hearing loss, conductive" EXACT [] xref: UMLS:C0004927 xref: UMLS:C0018777 xref: UMLS:C1384666 xref: UMLS:C2029884 is_a: HP:0000365 ! Hearing impairment is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0000407 name: Sensorineural hearing impairment namespace: medical_genetics alt_id: HP:0000374 alt_id: HP:0001753 alt_id: HP:0001916 alt_id: HP:0008553 alt_id: HP:0008576 alt_id: HP:0008611 alt_id: HP:0008614 def: "A type of `hearing impairment` (HP:0000365) caused by an `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cochlear nerve` (FMA:53431)." [HPO:probinson] comment: Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII, also known as the cochlear nerve). synonym: "Hearing loss, neural type" EXACT [] synonym: "Hearing loss, sensorineural" EXACT [] synonym: "Nerve deafness" EXACT [] synonym: "Neural hearing loss" EXACT [] synonym: "Neurosensory hearing loss" EXACT [] synonym: "Neurosensory nonsyndromic hearing impairment" EXACT [] synonym: "Nonsyndromic sensorineural hearing loss" EXACT [] synonym: "Sensorineural hearing loss" EXACT [] synonym: "Sensory hearing loss" EXACT [] xref: UMLS:C0011053 xref: UMLS:C0018784 xref: UMLS:C0155550 xref: UMLS:C0205081 xref: UMLS:C0205082 xref: UMLS:C0332307 xref: UMLS:C0581883 xref: UMLS:C0599851 xref: UMLS:C0684224 xref: UMLS:C0700287 xref: UMLS:C1299392 xref: UMLS:C1384666 xref: UMLS:C1519275 xref: UMLS:C1547052 xref: UMLS:C1552651 xref: UMLS:C1691779 xref: UMLS:C1842137 xref: UMLS:C1849011 xref: UMLS:C1852271 xref: UMLS:C1881878 xref: UMLS:C2029884 is_a: HP:0000359 ! Abnormality of the inner ear is_a: HP:0000365 ! Hearing impairment is_a: HP:0001333 ! Abnormality of the sensory nervous system [Term] id: HP:0000408 name: Progressive sensorineural hearing impairment namespace: medical_genetics alt_id: HP:0000397 alt_id: HP:0000406 def: "A `progressive` (PATO:0001818) form of `sensorineural hearing impairment` (HP:0000407)." [HPO:probinson] synonym: "Hearing loss, progressive sensorineural" EXACT [] synonym: "Hearing loss, sensorineural, progressive" EXACT [] synonym: "Sensorineural hearing loss, progressive" EXACT [] xref: UMLS:C0018784 xref: UMLS:C0205329 xref: UMLS:C1384666 xref: UMLS:C2029884 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0000410 name: Mixed hearing loss namespace: medical_genetics def: "A type of hearing loss resulting from a combination of `conductive hearing impairment` (HP:0000405) and `sensorineural hearing impairment` (HP:0000407)." [HPO:probinson] xref: UMLS:C0205430 xref: UMLS:C1384666 xref: UMLS:C2029884 is_a: HP:0000365 ! Hearing impairment is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0000411 name: Protruding ears namespace: medical_genetics xref: UMLS:C1855285 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000412 name: Prominent ears namespace: medical_genetics xref: UMLS:C1305420 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000413 name: External auditory canal atresia namespace: medical_genetics alt_id: HP:0008547 def: "Absence or failure to form of the external auditory canal." [HPO:curators] synonym: "Absent auditory canals" EXACT [] synonym: "Absent external auditory canals" EXACT [] 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 meatal atresia" EXACT [] synonym: "External auditory meatus atresia" EXACT [] xref: UMLS:C0013444 xref: UMLS:C0205101 xref: UMLS:C0243066 xref: UMLS:C0266597 xref: UMLS:C0439825 xref: UMLS:C1398325 xref: UMLS:C1840305 xref: UMLS:C1849665 xref: UMLS:C1857079 xref: UMLS:C1866190 xref: UMLS:C1968539 xref: UMLS:C2119047 is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0000414 name: Bulbous nose namespace: medical_genetics xref: UMLS:C0240543 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000415 name: Abnormality of the choanae namespace: medical_genetics def: "Abnormality of the choanae (the posterior nasal apertures)." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0225432 xref: UMLS:C1704258 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000416 name: Choanal atresia or stenosis namespace: medical_genetics alt_id: HP:0004503 def: "Absence (atresia) or abnormal narrowing (stenosis) of the choana (the posterior nasal aperture)." [HPO:curators] synonym: "Choanal atresia/stenosis" EXACT [] synonym: "Choanal stenosis or atresia" EXACT [] xref: UMLS:C0008297 xref: UMLS:C0009814 xref: UMLS:C0243066 xref: UMLS:C0584837 xref: UMLS:C0678234 xref: UMLS:C0947637 xref: UMLS:C1261287 xref: UMLS:C2119047 is_a: HP:0000415 ! Abnormality of the choanae [Term] id: HP:0000417 name: Slender nose namespace: medical_genetics xref: UMLS:C1857645 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000418 name: Pinched nose namespace: medical_genetics xref: UMLS:C1837761 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000419 name: Abnormality of the nasal septum namespace: medical_genetics def: "An abnormality of the `nasal septum` (FMA:54375)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0027432 xref: UMLS:C1268974 xref: UMLS:C1704258 xref: UMLS:C2077309 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000420 name: Short nasal septum namespace: medical_genetics xref: UMLS:C1844857 is_a: HP:0000419 ! Abnormality of the nasal septum [Term] id: HP:0000421 name: Epistaxis namespace: medical_genetics synonym: "nose bleeding" EXACT [] synonym: "nosebleed" EXACT [] xref: UMLS:C0014591 xref: UMLS:C2228238 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000422 name: Abnormality of the nasal bridge namespace: medical_genetics def: "Abnormality of the nasal bridge, which is the upper, bony part of the nose." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0028429 xref: UMLS:C0399080 xref: UMLS:C0456378 xref: UMLS:C0521140 xref: UMLS:C1704258 xref: UMLS:C1999246 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000423 name: Abnormality of the nasal root namespace: medical_genetics def: "An abnormality of the `root of nose` (FMA:59516)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0225412 xref: UMLS:C1704258 is_a: HP:0010938 ! Abnormality of the external nose [Term] id: HP:0000424 name: Broad nasal root namespace: medical_genetics def: "Abnormally `increased width` (PATO:0000600) of the `root of nose` (FMA:59516)." [HPO:probinson] xref: UMLS:C1866488 is_a: HP:0000423 ! Abnormality of the nasal root [Term] id: HP:0000425 name: Flattened nasal bridge namespace: medical_genetics def: "Abnormally flat or low upper, bony part of the nose." [HPO:curators] synonym: "Flat nasal bridge" EXACT [] synonym: "Flat, nasal bridge" EXACT [] xref: UMLS:C1836542 xref: UMLS:C1837403 xref: UMLS:C1850291 xref: UMLS:C1861931 xref: UMLS:C1970071 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000426 name: Prominent nasal bridge namespace: medical_genetics xref: UMLS:C1837827 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000427 name: Upturned nose namespace: medical_genetics xref: UMLS:C0240582 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000428 name: Low nasal bridge namespace: medical_genetics xref: UMLS:C1837734 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000429 name: Abnormality of the nasal alae namespace: medical_genetics def: "An abnormality of the `Ala of nose` (FMA:59519)." [HPO:probinson] synonym: "Abnormality of the nasal ala" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0458563 xref: UMLS:C1704258 is_a: HP:0010938 ! Abnormality of the external nose [Term] id: HP:0000430 name: Hypoplastic nasal alae namespace: medical_genetics def: "Thinned, deficient, or excessively arched `ala nasi` (FMA:59519)." [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. 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 nasal wings" EXACT [] synonym: "Nasal cartilage hypoplasia" EXACT [] synonym: "Thin hypoplastic alae nasi" EXACT [] xref: UMLS:C0243069 xref: UMLS:C0458042 xref: UMLS:C0458563 xref: UMLS:C0543481 xref: UMLS:C0702172 xref: UMLS:C1283890 xref: UMLS:C1834055 xref: UMLS:C1837825 xref: UMLS:C1839547 xref: UMLS:C1856229 xref: UMLS:C1865990 is_a: HP:0000429 ! Abnormality of the nasal alae is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose [Term] id: HP:0000431 name: Broad nasal bridge namespace: medical_genetics def: "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] synonym: "Broadened nasal bridge" EXACT [] synonym: "Nasal bridge broad" EXACT [] synonym: "Wide nasal bridge" EXACT [] synonym: "Widened nasal bridge" EXACT [] xref: UMLS:C0028429 xref: UMLS:C0332464 xref: UMLS:C0399080 xref: UMLS:C0426421 xref: UMLS:C0456378 xref: UMLS:C0521140 xref: UMLS:C1849367 xref: UMLS:C1862856 xref: UMLS:C1864688 xref: UMLS:C1999246 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000432 name: Prominent nasal root namespace: medical_genetics def: "An abnormally `prominent` (PATO:0001482) `root of nose` (FMA:59516)." [HPO:probinson] xref: UMLS:C1843694 is_a: HP:0000423 ! Abnormality of the nasal root [Term] id: HP:0000433 name: Abnormality of the nasal mucosa namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0027428 xref: UMLS:C1305746 xref: UMLS:C1704258 xref: UMLS:C2239140 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000434 name: Nasal mucosa telangiectases namespace: medical_genetics xref: UMLS:C1857696 is_a: HP:0000433 ! Abnormality of the nasal mucosa is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000436 name: Abnormality of the nasal tip namespace: medical_genetics def: "An abnormality of the `nasal tip` (FMA:59518)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0225409 xref: UMLS:C1704258 is_a: HP:0010938 ! Abnormality of the external nose [Term] id: HP:0000437 name: Flat nasal tip namespace: medical_genetics synonym: "Depressed nasal tip" EXACT [] xref: UMLS:C1858568 xref: UMLS:C1859717 is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000438 name: Short, broad nose namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C1806781 xref: UMLS:C1853571 xref: UMLS:C1854114 xref: UMLS:C2350002 is_a: HP:0000445 ! Broad nose is_a: HP:0003196 ! Nasal hypoplasia [Term] id: HP:0000439 name: Flat, broad nasal bridge namespace: medical_genetics def: "Increased horizontal dimension and depression (flatness) of the upper, bony part of the nose." [HPO:curators] synonym: "Broad flat nasal bridge" EXACT [] synonym: "Broad, flat bridge" EXACT [] synonym: "Broad, flat nasal bridge" EXACT [] xref: UMLS:C0205324 xref: UMLS:C0332464 xref: UMLS:C0399080 xref: UMLS:C0456378 xref: UMLS:C0457933 xref: UMLS:C1837403 xref: UMLS:C1839764 xref: UMLS:C1864688 xref: UMLS:C1999246 is_a: HP:0000425 ! Flattened nasal bridge is_a: HP:0000431 ! Broad nasal bridge [Term] id: HP:0000441 name: Short, upturned nose namespace: medical_genetics synonym: "Short upturned nose" EXACT [] xref: UMLS:C0240583 is_a: HP:0000427 ! Upturned nose [Term] id: HP:0000442 name: High nasal bridge namespace: medical_genetics xref: UMLS:C1837533 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000443 name: Bulbous nasal tip namespace: medical_genetics xref: UMLS:C1855751 is_a: HP:0000414 ! Bulbous nose is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000444 name: Beaked nose namespace: medical_genetics synonym: "Beaklike protrusion" EXACT [] xref: UMLS:C0240538 xref: UMLS:C0333056 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000445 name: Broad nose namespace: medical_genetics xref: UMLS:C1853571 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000446 name: Narrow nasal bridge namespace: medical_genetics xref: UMLS:C0028429 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C0399080 xref: UMLS:C0456378 xref: UMLS:C0521140 xref: UMLS:C1999246 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000447 name: Pear-shaped nose namespace: medical_genetics xref: UMLS:C1853482 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000448 name: Prominent nose namespace: medical_genetics xref: UMLS:C0847549 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000450 name: Small, pointed nose namespace: medical_genetics synonym: "Thin, small pointed nose" EXACT [] xref: UMLS:C0205168 xref: UMLS:C0700321 xref: UMLS:C1855434 is_a: HP:0003196 ! Nasal hypoplasia [Term] id: HP:0000451 name: Triangular nasal tip namespace: medical_genetics xref: UMLS:C1839765 is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000452 name: Choanal stenosis namespace: medical_genetics def: "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:curators] synonym: "Coanal stenosis" EXACT [] xref: UMLS:C0584837 xref: UMLS:C1860049 is_a: HP:0000416 ! Choanal atresia or stenosis [Term] id: HP:0000453 name: Choanal atresia namespace: medical_genetics def: "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] xref: UMLS:C0008297 is_a: HP:0000416 ! Choanal atresia or stenosis [Term] id: HP:0000454 name: Flared nostrils namespace: medical_genetics synonym: "Flared nasal alae" EXACT [] xref: UMLS:C0595944 xref: UMLS:C1517205 is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0000455 name: Broad nasal tip namespace: medical_genetics xref: UMLS:C0426429 is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000456 name: Bifid nasal tip namespace: medical_genetics def: "A splitting of the nasal tip. This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation." [HPO:curators] xref: UMLS:C0426428 is_a: HP:0004122 ! Midline defect of the nose [Term] id: HP:0000457 name: Flat nose namespace: medical_genetics xref: UMLS:C1842876 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000458 name: Anosmia namespace: medical_genetics 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:curators] xref: UMLS:C0003126 is_a: HP:0004408 ! Abnormality of the sense of smell [Term] id: HP:0000460 name: Narrow nose namespace: medical_genetics xref: UMLS:C0426422 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000461 name: Large nose namespace: medical_genetics xref: UMLS:C0426415 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000462 name: Nasal polyps namespace: medical_genetics xref: UMLS:C0027430 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000463 name: Nares, anteverted namespace: medical_genetics alt_id: HP:0000435 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." [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 nares" EXACT [] synonym: "Anteverted nose" EXACT [] synonym: "Anteverted nostrils" EXACT [] synonym: "Nasal tip, upturned" EXACT [] synonym: "Nostrils anteverted" EXACT [] synonym: "Upturned nasal tip" EXACT [] xref: UMLS:C0225409 xref: UMLS:C0333053 xref: UMLS:C0595944 xref: UMLS:C1456808 xref: UMLS:C1837721 xref: UMLS:C1840077 xref: UMLS:C1849216 xref: UMLS:C1853244 is_a: HP:0000427 ! Upturned nose is_a: HP:0000429 ! Abnormality of the nasal alae is_a: HP:0005288 ! Abnormality of the nares [Term] id: HP:0000464 name: Abnormality of the neck namespace: medical_genetics def: "An abnormality of the `neck` (FMA:7155)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0027530 xref: UMLS:C1281592 xref: UMLS:C1704258 is_a: HP:0000152 ! Abnormality of head and neck [Term] id: HP:0000465 name: Webbed neck namespace: medical_genetics synonym: "Pterygium colli" EXACT [] xref: UMLS:C0221217 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000466 name: Limited neck range of motion namespace: medical_genetics xref: UMLS:C0027530 xref: UMLS:C0080078 xref: UMLS:C0150220 xref: UMLS:C0439801 xref: UMLS:C1281592 xref: UMLS:C2607871 is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0000467 name: Neck muscle weakness namespace: medical_genetics def: "`Decreased strength` (PATO:0001779) of the `neck musculature` (FMA:71290)." [HPO:probinson] xref: UMLS:C0240479 is_a: HP:0001324 ! Muscle weakness is_a: HP:0011006 ! Abnormality of the musculature of the neck [Term] id: HP:0000468 name: Normal or increased adipose tissue around the neck namespace: medical_genetics xref: UMLS:C0001527 xref: UMLS:C0027530 xref: UMLS:C0205217 xref: UMLS:C0205307 xref: UMLS:C0439166 xref: UMLS:C0442805 xref: UMLS:C1281592 xref: UMLS:C2347086 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0009124 ! Abnormality of adipose tissue [Term] id: HP:0000470 name: Short neck namespace: medical_genetics alt_id: HP:0005992 synonym: "Relatively short neck" EXACT [] xref: UMLS:C0521525 xref: UMLS:C1852612 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0000471 name: Gastrointestinal angiodysplasia namespace: medical_genetics def: "`Dysplasia` (MPATH:589) affecting the vasculature of the `gastrointestinal tract` (FMA:71132)." [HPO:probinson] xref: UMLS:C0854242 is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature [Term] id: HP:0000472 name: Long neck namespace: medical_genetics xref: UMLS:C1839816 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000473 name: Spasmodic torticollis namespace: medical_genetics def: "Involuntary contractions of the `neck musculature` (FMA:71290) 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 [] xref: UMLS:C0040485 is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0011006 ! Abnormality of the musculature of the neck [Term] id: HP:0000474 name: Excess nuchal skin namespace: medical_genetics def: "An excessive amount of the `Skin of back of neck` (FMA:23020)." [HPO:probinson] synonym: "Redundant nuchal skin" EXACT [] xref: UMLS:C1836940 xref: UMLS:C1858543 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000475 name: Broad neck namespace: medical_genetics xref: UMLS:C1853638 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000476 name: Cystic hygroma namespace: medical_genetics def: "A cystic lymphatic lesion of the `neck` (FMA:7155)." [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: UMLS:C0027530 xref: UMLS:C0206620 xref: UMLS:C1281592 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000477 name: Nuchal skin folds namespace: medical_genetics xref: UMLS:C1863695 is_a: HP:0000474 ! Excess nuchal skin [Term] id: HP:0000478 name: Abnormality of the eye namespace: medical_genetics def: "Any abnormality of the `eye` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0015392 xref: UMLS:C1704258 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000479 name: Abnormality of the retina namespace: medical_genetics def: "An abnormality of the `retina` (FMA:58301)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0035298 xref: UMLS:C1278894 xref: UMLS:C1704258 is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0000480 name: Retinal coloboma namespace: medical_genetics xref: UMLS:C0240896 is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0000589 ! Coloboma [Term] id: HP:0000481 name: Abnormality of the cornea namespace: medical_genetics def: "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." [HPO:curators] synonym: "Corneal abnormalities" EXACT [] synonym: "Corneal abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0010031 xref: UMLS:C1278889 xref: UMLS:C1704258 xref: UMLS:C1855670 is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0000482 name: Microcornea namespace: medical_genetics def: "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." [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. xref: UMLS:C0266544 is_a: HP:0100688 ! Decreased corneal diameter [Term] id: HP:0000483 name: Astigmatism namespace: medical_genetics def: "Astigmatism is a kind of refractive error that is characterized by an irregular surface curvature of the cornea or the lens in one direction or the other." [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. xref: UMLS:C0004106 is_a: HP:0000539 ! Abnormality of refraction is_a: HP:0100691 ! Abnormality of the curvature of the cornea [Term] id: HP:0000484 name: Hyperopic astigmatism namespace: medical_genetics xref: UMLS:C1847524 is_a: HP:0000483 ! Astigmatism [Term] id: HP:0000485 name: Megalocornea namespace: medical_genetics def: "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." [HPO:curators] xref: UMLS:C0344530 is_a: HP:0007660 ! Increased corneal diameter is_a: HP:0008040 ! Anterior chamber mesodermal anomalies is_a: HP:0100689 ! Decreased corneal thickness [Term] id: HP:0000486 name: Strabismus namespace: medical_genetics def: "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] synonym: "Squint" EXACT [] xref: UMLS:C0038379 xref: UMLS:C2020541 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000487 name: Congenital strabismus namespace: medical_genetics xref: UMLS:C0521579 is_a: HP:0000486 ! Strabismus [Term] id: HP:0000488 name: Retinopathy namespace: medical_genetics xref: UMLS:C0035309 xref: UMLS:C1962966 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000489 name: Abnormality of globe location or size namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0015392 xref: UMLS:C0450429 xref: UMLS:C0456389 xref: UMLS:C1280202 xref: UMLS:C1515974 xref: UMLS:C1704258 is_a: HP:0000284 ! Abnormality of the ocular region is_a: HP:0000315 ! Abnormality of the orbital region is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000490 name: Deeply set eye namespace: medical_genetics def: "An `eye` (FMA:54448) 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. synonym: "Deep set eye" EXACT [] synonym: "Deep-set eyes" EXACT [] synonym: "Sunken eyes" EXACT [] xref: UMLS:C1860310 is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0000491 name: Keratitis namespace: medical_genetics def: "Inflammation of the cornea." [HPO:curators] xref: UMLS:C0022568 is_a: HP:0000481 ! Abnormality of the cornea is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000492 name: Abnormality of the eyelid namespace: medical_genetics alt_id: HP:0000285 synonym: "Abnormality of the eyelids" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0015426 xref: UMLS:C1280734 xref: UMLS:C1704258 xref: UMLS:C2228440 xref: UMLS:C2239120 is_a: HP:0000284 ! Abnormality of the ocular region is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0000493 name: Abnormality of the fovea namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0016622 xref: UMLS:C0450290 xref: UMLS:C1704258 is_a: HP:0001103 ! Abnormality of the macula created_by: peter creation_date: 2008-04-02T01:29:00Z [Term] id: HP:0000494 name: Downward slanting palpebral fissures namespace: medical_genetics 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 [] synonym: "Downward slanted palpebral fissures" EXACT [] synonym: "Downward-slanting palpebral fissures" EXACT [] synonym: "Palpebral fissures down-slanted" EXACT [] xref: UMLS:C0229244 xref: UMLS:C0239434 xref: UMLS:C0423110 xref: UMLS:C0423866 xref: UMLS:C1269600 xref: UMLS:C2077312 is_a: HP:0200006 ! Slanting of the palpebral fissures [Term] id: HP:0000495 name: Recurrent corneal erosions namespace: medical_genetics 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 ulceration" RELATED [] synonym: "Corneal ulcerations" EXACT [] synonym: "Epithelial corneal erosions" RELATED [] synonym: "Recurrent corneal erosions" EXACT [] synonym: "Recurrent corneal ulceration" EXACT [] xref: UMLS:C0010043 xref: UMLS:C0034897 xref: UMLS:C0155119 xref: UMLS:C0221908 xref: UMLS:C0392163 is_a: HP:0200020 ! Corneal erosions [Term] id: HP:0000496 name: Abnormality of eye movement namespace: medical_genetics def: "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] 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 [] xref: UMLS:C0000768 xref: UMLS:C0015413 xref: UMLS:C0497202 xref: UMLS:C0549100 xref: UMLS:C0702182 xref: UMLS:C1704258 xref: UMLS:C1843664 xref: UMLS:C1850335 xref: UMLS:C1854374 xref: UMLS:C1855559 xref: UMLS:C1858502 is_a: HP:0000478 ! Abnormality of the eye is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0000497 name: Globe retraction and deviation on abduction namespace: medical_genetics xref: UMLS:C0012727 xref: UMLS:C0015392 xref: UMLS:C0205419 xref: UMLS:C0231456 xref: UMLS:C0332523 xref: UMLS:C1280202 xref: UMLS:C1705236 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000498 name: Blepharitis namespace: medical_genetics def: "Inflammation of the eyelids." [HPO:curators] xref: UMLS:C0005741 xref: UMLS:C2230188 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 namespace: medical_genetics def: "An abnormality of the `eyelashes` (FMA:53669)." [HPO:probinson] synonym: "Eyelash abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0015422 xref: UMLS:C1288305 xref: UMLS:C1704258 is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0001595 ! Abnormality of the hair [Term] id: HP:0000500 name: Long, curly eyelashes namespace: medical_genetics synonym: "Abundant and curly eyelashes" EXACT [] synonym: "Long curly eyelashes" EXACT [] xref: UMLS:C0015422 xref: UMLS:C0887883 xref: UMLS:C1855286 xref: UMLS:C2346714 is_a: HP:0000527 ! Long eyelashes [Term] id: HP:0000501 name: Glaucoma namespace: medical_genetics def: "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] xref: UMLS:C0017601 xref: UMLS:C1962986 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000502 name: Abnormality of the conjunctiva namespace: medical_genetics def: "An abnormality of the `conjunctiva` (FMA:59011)." [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). xref: UMLS:C0000768 xref: UMLS:C0009758 xref: UMLS:C1278888 xref: UMLS:C1704258 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000503 name: Tortuosity of conjunctival vessels namespace: medical_genetics xref: UMLS:C0005847 xref: UMLS:C0009758 xref: UMLS:C0333076 xref: UMLS:C1522483 is_a: HP:0008054 ! Abnormality of the vasculature of the conjunctiva [Term] id: HP:0000504 name: Abnormality of vision namespace: medical_genetics def: "Abnormality of eyesight (visual perception)." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0042789 xref: UMLS:C1704258 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000505 name: Impaired vision namespace: medical_genetics alt_id: HP:0000516 alt_id: HP:0000566 synonym: "Decreased visual acuity" EXACT [] synonym: "Poor vision" EXACT [] synonym: "Poor visual acuity" EXACT [] synonym: "Reduced visual acuity" EXACT [] synonym: "Visual impairment" EXACT [] xref: UMLS:C0042798 xref: UMLS:C0234632 xref: UMLS:C0580104 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000506 name: Telecanthus namespace: medical_genetics def: "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] 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 normally spaced. synonym: "Dystopia canthorum" EXACT [] xref: UMLS:C0423113 xref: UMLS:C1857498 is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000508 name: Ptosis namespace: medical_genetics def: "Drooping of the eyelid." [HPO:curators] synonym: "Blepharoptosis" EXACT [] xref: UMLS:C0005745 xref: UMLS:C0033377 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000509 name: Conjunctivitis namespace: medical_genetics def: "Inflammation of the conjunctiva." [HPO:curators] xref: UMLS:C0009763 is_a: HP:0000502 ! Abnormality of the conjunctiva is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000510 name: Retinitis pigmentosa namespace: medical_genetics alt_id: HP:0007742 alt_id: HP:0007816 alt_id: HP:0007927 def: "Hereditary degeneration and atrophy of the retina." [HPO:curators] synonym: "Late-onset retinitis pigmentosa" EXACT [] xref: UMLS:C0035334 xref: UMLS:C0205087 xref: UMLS:C0332162 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000511 name: Vertical supranuclear gaze palsy namespace: medical_genetics xref: UMLS:C1843369 is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0000512 name: Abnormal electroretinogram namespace: medical_genetics alt_id: HP:0003285 def: "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:curators] synonym: "Abnormal electroretinogram (ERG)" EXACT [] synonym: "Abnormal ERG" EXACT [] xref: UMLS:C0476397 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000514 name: Slow saccades namespace: medical_genetics xref: UMLS:C1321329 is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000515 name: Corneal opacity namespace: medical_genetics def: "Opacity of part or all of the `cornea` (FMA:58238)." [HPO:vkumar] synonym: "Cloudy cornea" EXACT [] synonym: "Corneal clouding" EXACT [] synonym: "Corneal opacities" EXACT [] xref: UMLS:C0010038 xref: UMLS:C1856661 is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000517 name: Abnormality of the lens namespace: medical_genetics def: "An abnormality of the `lens` (FMA:58241)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0023317 xref: UMLS:C0023318 xref: UMLS:C0996842 xref: UMLS:C1278892 xref: UMLS:C1509844 xref: UMLS:C1704258 xref: UMLS:C2239142 is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0000518 name: Cataract namespace: medical_genetics def: "A cataract is an opacity or clouding that develops in the crystalline `lens` (FMA:58241) of the eye or in its `capsule` (FMA:58881)." [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). synonym: "Cataracts" EXACT [] synonym: "Lens opacities" EXACT [] synonym: "Lens opacity" EXACT [] xref: UMLS:C0086543 xref: UMLS:C1510497 is_a: HP:0000517 ! Abnormality of the lens [Term] id: HP:0000519 name: Congenital cataract namespace: medical_genetics alt_id: HP:0001108 alt_id: HP:0007679 alt_id: HP:0007726 alt_id: HP:0007788 def: "A congenital `cataract` (HP:0000518)." [HPO:probinson] comment: In general, congenital cataracts are bilateral and that is the assumption with the terms in this cataract subhierarchy. 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: UMLS:C0009678 xref: UMLS:C0009691 xref: UMLS:C0023317 xref: UMLS:C0023318 xref: UMLS:C0086543 xref: UMLS:C0238767 xref: UMLS:C0521707 xref: UMLS:C0996842 xref: UMLS:C1278892 xref: UMLS:C1442859 xref: UMLS:C1509844 xref: UMLS:C1744681 xref: UMLS:C2239142 is_a: HP:0000518 ! Cataract [Term] id: HP:0000520 name: Proptosis namespace: medical_genetics alt_id: HP:0000644 alt_id: HP:0000645 def: "Abnormal protrusion of the globe." [HPO:sdoelken] 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). synonym: "Anterior bulging of the globe" EXACT [] synonym: "Exophthalmos" EXACT [] synonym: "Ocular proptosis" EXACT [] synonym: "Protruding eyes" EXACT [] xref: UMLS:C0015300 xref: UMLS:C0015392 xref: UMLS:C0038999 xref: UMLS:C0205094 xref: UMLS:C1059185 xref: UMLS:C1280202 xref: UMLS:C1848490 is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0000521 name: Abnormality of tear glands or tear production namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0022907 xref: UMLS:C1704258 xref: UMLS:C2363241 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000522 name: Alacrima namespace: medical_genetics xref: UMLS:C0344505 is_a: HP:0000632 ! Lacrimation abnormality [Term] id: HP:0000523 name: Subcapsular cataract namespace: medical_genetics 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` (FMA:58881)." [HPO:probinson] synonym: "Subcapsular cataracts" EXACT [] synonym: "Subcapsular lenticular cataracts" EXACT [] synonym: "Subcapsular opacities" EXACT [] xref: UMLS:C0235259 xref: UMLS:C1833165 xref: UMLS:C1866179 is_a: HP:0010696 ! Polar cataract [Term] id: HP:0000524 name: Conjunctival telangiectasia namespace: medical_genetics 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:curators] synonym: "Conjunctival telangiectases" EXACT [] synonym: "Telangiectasia, conjunctival" EXACT [] xref: UMLS:C0009758 xref: UMLS:C0039446 xref: UMLS:C0239105 xref: UMLS:C1522483 xref: UMLS:C1963248 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 namespace: medical_genetics def: "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." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0022077 xref: UMLS:C1278891 xref: UMLS:C1704258 is_a: HP:0000553 ! Abnormality of the uvea is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0000526 name: Aniridia namespace: medical_genetics def: "Congenital absence of the `iris` (FMA:58235)." [HPO:curators] xref: UMLS:C0003076 is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris [Term] id: HP:0000527 name: Long eyelashes namespace: medical_genetics 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. synonym: "Unusually long eyelashes" EXACT [] xref: UMLS:C0854699 xref: UMLS:C1853738 is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0000528 name: Anophthalmia namespace: medical_genetics def: "Absence of a true eyeball." [HPO:curators] xref: UMLS:C0003119 is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye [Term] id: HP:0000529 name: Progressive visual loss namespace: medical_genetics alt_id: HP:0007753 alt_id: HP:0007967 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: "Visual loss, progressive" EXACT [] xref: UMLS:C0042789 xref: UMLS:C0042798 xref: UMLS:C0205329 xref: UMLS:C0234632 xref: UMLS:C0750509 xref: UMLS:C1517945 xref: UMLS:C1837088 xref: UMLS:C1839364 xref: UMLS:C1866286 is_a: HP:0000572 ! Visual loss [Term] id: HP:0000530 name: Saccadic slow pursuit namespace: medical_genetics synonym: "Saccadic pursuit movements" EXACT [] xref: UMLS:C0036019 xref: UMLS:C0439834 xref: UMLS:C1836479 is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000531 name: Corneal crystals namespace: medical_genetics xref: UMLS:C1857391 is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000532 name: Chorioretinal abnormality namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1704258 is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0000533 name: Chorioretinal atrophy namespace: medical_genetics xref: UMLS:C0521683 is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0000534 name: Abnormality of the eyebrow namespace: medical_genetics def: "An abnormality of the `eyebrow` (FMA:54237)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0015420 xref: UMLS:C1280733 xref: UMLS:C1704258 is_a: HP:0000284 ! Abnormality of the ocular region is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0000535 name: Sparse eyebrows namespace: medical_genetics synonym: "Thin, sparse eyebrows" EXACT [] xref: UMLS:C0578682 is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0000536 name: Prominent eyes namespace: medical_genetics xref: UMLS:C1837760 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000537 name: Epicanthus inversus namespace: medical_genetics xref: UMLS:C1303003 is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000538 name: Pseudopapilledema namespace: medical_genetics xref: UMLS:C0155300 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000539 name: Abnormality of refraction namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0429585 xref: UMLS:C0430943 xref: UMLS:C1704258 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000540 name: Hypermetropia namespace: medical_genetics def: "An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry." [HPO:probinson] synonym: "Farsightedness" EXACT [] synonym: "Hyperopia" EXACT [] synonym: "Long-sightedness." EXACT [] xref: UMLS:C0020490 is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000541 name: Retinal detachment namespace: medical_genetics synonym: "Detached retina" EXACT [] xref: UMLS:C0035305 xref: UMLS:C1963229 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000542 name: Impaired ocular adduction namespace: medical_genetics xref: UMLS:C1846463 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000543 name: Pale optic disks namespace: medical_genetics alt_id: HP:0001484 synonym: "Pale optic disc" EXACT [] synonym: "Pale optic discs" EXACT [] synonym: "Pale optic disk" EXACT [] xref: UMLS:C0554970 is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0000544 name: External ophthalmoplegia namespace: medical_genetics synonym: "Ophthalmoplegia externa" EXACT [] xref: UMLS:C0162292 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000545 name: Myopia namespace: medical_genetics def: "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson] xref: UMLS:C0027092 is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000546 name: Retinal degeneration namespace: medical_genetics alt_id: HP:0007632 xref: UMLS:C0035304 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000547 name: Tapetoretinal degeneration namespace: medical_genetics xref: UMLS:C0035334 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0000548 name: Cone-rod dystrophy namespace: medical_genetics synonym: "Cone-rod retinal dystrophy" EXACT [] xref: UMLS:C0035334 xref: UMLS:C0339530 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0000549 name: Disconjugate eye movements namespace: medical_genetics synonym: "Abnormal conjugate eye movement" EXACT [] xref: UMLS:C0015413 xref: UMLS:C0301869 xref: UMLS:C0497202 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000550 name: Abolished electroretinogram (ERG) namespace: medical_genetics synonym: "Abolished electroretinogram" EXACT [] synonym: "Absent electroretinogram" EXACT [] synonym: "Extinction of electroretinogram" EXACT [] synonym: "Extinguished electroretinogram" EXACT [] xref: UMLS:C0013867 xref: UMLS:C1855685 xref: UMLS:C1969818 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0000551 name: Abnormal color vision namespace: medical_genetics synonym: "Dyschromatopsia" EXACT [] xref: UMLS:C0234629 xref: UMLS:C0858618 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000552 name: Blue-yellow dyschromatopsia namespace: medical_genetics synonym: "Dyschromatopsia, blue-yellow" EXACT [] xref: UMLS:C0221205 xref: UMLS:C0858618 xref: UMLS:C1260957 xref: UMLS:C1853142 is_a: HP:0000551 ! Abnormal color vision [Term] id: HP:0000553 name: Abnormality of the uvea namespace: medical_genetics def: "An abnormality of the `uvea` (FMA:58103), the vascular layer of the eyeball." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0042160 xref: UMLS:C1704258 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000554 name: Uveitis namespace: medical_genetics def: "Inflammation of one or all portions of the uveal tract." [HPO:curators] xref: UMLS:C0042164 xref: UMLS:C1963266 is_a: HP:0000553 ! Abnormality of the uvea is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000555 name: Leukocoria namespace: medical_genetics 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 is_a: HP:0000615 ! Abnormality of the pupil [Term] id: HP:0000556 name: Retinal dystrophy namespace: medical_genetics xref: UMLS:C0854723 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000557 name: Buphthalmos namespace: medical_genetics 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:curators] xref: UMLS:C0020302 is_a: HP:0001087 ! Congenital glaucoma [Term] id: HP:0000558 name: Rieger anomaly namespace: medical_genetics comment: Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea. xref: UMLS:C0265341 is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0000559 name: Corneal scarring namespace: medical_genetics xref: UMLS:C0349702 is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000560 name: Progressive visual loss (4 to 10 years) namespace: medical_genetics xref: UMLS:C0439234 xref: UMLS:C1866286 is_a: HP:0000529 ! Progressive visual loss [Term] id: HP:0000561 name: Absent eyelashes namespace: medical_genetics def: "Lack of eyelashes." [HPO:curators] comment: Often this finding is congenital and associated with alopecia universalis, but this should be coded separately. synonym: "Atrichia of eyelashes" EXACT [] xref: UMLS:C0015422 xref: UMLS:C0702167 xref: UMLS:C1843005 is_a: HP:0000499 ! Abnormality of the eyelashes is_a: HP:0002298 ! Absent hair [Term] id: HP:0000563 name: Keratoconus namespace: medical_genetics def: "A cone-shaped deformity of the cornea." [HPO:curators] xref: UMLS:C0022578 is_a: HP:0007660 ! Increased corneal diameter is_a: HP:0100689 ! Decreased corneal thickness [Term] id: HP:0000564 name: Lacrimal duct atresia namespace: medical_genetics synonym: "Nasolacrimal duct atresia" EXACT [] xref: UMLS:C0027437 xref: UMLS:C0243066 xref: UMLS:C1281285 xref: UMLS:C1863756 xref: UMLS:C2119047 is_a: HP:0000614 ! Abnormality of the lacrimal duct [Term] id: HP:0000565 name: Esotropia namespace: medical_genetics synonym: "Convergent strabismus" EXACT [] xref: UMLS:C0014877 is_a: HP:0000486 ! Strabismus [Term] id: HP:0000567 name: Chorioretinal coloboma namespace: medical_genetics synonym: "Choroidoretinal coloboma" EXACT [] xref: UMLS:C0240896 xref: UMLS:C1844534 is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0000568 name: Microphthalmos namespace: medical_genetics def: "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] synonym: "Microphthalmia" EXACT [] synonym: "Microphthalmus" RELATED [] xref: UMLS:C0026010 xref: UMLS:C1055232 is_a: HP:0001143 ! Small eyes [Term] id: HP:0000570 name: Abnormality of saccadic eye movements namespace: medical_genetics def: "An `abnormality of eye movement` (HP:0000496) 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. xref: UMLS:C0000768 xref: UMLS:C0036019 xref: UMLS:C1704258 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000571 name: Hypometric saccades namespace: medical_genetics xref: UMLS:C0423082 is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000572 name: Visual loss namespace: medical_genetics synonym: "Loss of vision" EXACT [] xref: UMLS:C0042789 xref: UMLS:C0042798 xref: UMLS:C1517945 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0000573 name: Retinal hemorrhage namespace: medical_genetics def: "`Hemorrhage` (MPATH:119) occurring within the `retina` (FMA:58301)." [HPO:gcarletti] synonym: "Retinal bleeding" EXACT [] synonym: "Retinal hemorrhages" EXACT [] xref: UMLS:C0035317 is_a: HP:0008046 ! Abnormality of the retinal vasculature is_a: HP:0011029 ! Internal hemorrhage [Term] id: HP:0000574 name: Thick eyebrows namespace: medical_genetics synonym: "Bushy eyebrows" EXACT [] synonym: "Heavy eyebrows" EXACT [] synonym: "Large, prominent eyebrow" EXACT [] synonym: "Prominent eyebrows" EXACT [] xref: UMLS:C0015420 xref: UMLS:C0330099 xref: UMLS:C0549177 xref: UMLS:C1839313 xref: UMLS:C1853487 xref: UMLS:C1855409 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0000575 name: Scotoma namespace: medical_genetics 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] xref: UMLS:C0036454 is_a: HP:0001123 ! Visual field defects [Term] id: HP:0000576 name: Centrocecal scotoma namespace: medical_genetics xref: UMLS:C0271196 is_a: HP:0000575 ! Scotoma [Term] id: HP:0000577 name: Exotropia namespace: medical_genetics xref: UMLS:C0015310 is_a: HP:0000486 ! Strabismus [Term] id: HP:0000579 name: Nasolacrimal duct obstruction namespace: medical_genetics synonym: "Lacrimal duct obstruction" EXACT [] xref: UMLS:C0022906 xref: UMLS:C1281931 is_a: HP:0000614 ! Abnormality of the lacrimal duct [Term] id: HP:0000580 name: Pigmentary retinopathy namespace: medical_genetics xref: UMLS:C0035334 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000581 name: Blepharophimosis namespace: medical_genetics alt_id: HP:0000507 alt_id: HP:0000513 def: "Reduced width of the palpebral fissures." [HPO:sdoelken] synonym: "Narrow palpebral fissures" EXACT [] synonym: "Short palpebral fissure" EXACT [] synonym: "Short palpebral fissures" EXACT [] xref: UMLS:C0005744 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C0423112 xref: UMLS:C2077312 is_a: HP:0200007 ! Abnormal size of the palpebral fissures [Term] id: HP:0000582 name: Upslanting palpebral fissures namespace: medical_genetics synonym: "Mongoloid slant" EXACT [] synonym: "Upslanted 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 xref: UMLS:C0423109 xref: UMLS:C1282911 xref: UMLS:C1853243 xref: UMLS:C2077312 is_a: HP:0200006 ! Slanting of the palpebral fissures [Term] id: HP:0000584 name: Punctate corneal epithelial erosions namespace: medical_genetics xref: UMLS:C1832170 is_a: HP:0200020 ! Corneal erosions [Term] id: HP:0000585 name: Band keratopathy namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Calcific band keratopathy" EXACT [] xref: UMLS:C0155120 xref: UMLS:C1720530 is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000586 name: Shallow orbits namespace: medical_genetics xref: UMLS:C0029180 is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0000587 name: Abnormality of the optic nerve namespace: medical_genetics def: "Abnormality of the `optic nerve` (FMA:50863)." [HPO:probinson] comment: The optic nerve, which is also known as cranial nerve II, transmits visual information from the retina to the brain. xref: UMLS:C0000768 xref: UMLS:C0029130 xref: UMLS:C1268985 xref: UMLS:C1704258 is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0000588 name: Optic nerve coloboma namespace: medical_genetics synonym: "Coloboma of optic nerve" EXACT [] xref: UMLS:C0009363 xref: UMLS:C0029130 xref: UMLS:C0155299 xref: UMLS:C1268985 is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0000589 ! Coloboma [Term] id: HP:0000589 name: Coloboma namespace: medical_genetics def: "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [HPO:probinson] xref: UMLS:C0009363 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000590 name: External ophthalmoplegia, progressive (PEO) namespace: medical_genetics alt_id: HP:0000562 synonym: "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA" EXACT [] xref: UMLS:C0162292 xref: UMLS:C0162674 xref: UMLS:C0205329 xref: UMLS:C1418458 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0000591 name: Abnormality of the sclera namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0036410 xref: UMLS:C1278890 xref: UMLS:C1704258 xref: UMLS:C2228481 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000592 name: Blue sclerae namespace: medical_genetics synonym: "Blue sclera" EXACT [] synonym: "Bluish sclerae" EXACT [] xref: UMLS:C0542514 xref: UMLS:C1853175 is_a: HP:0000591 ! Abnormality of the sclera [Term] id: HP:0000593 name: Abnormality of the anterior chamber namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Anterior chamber anomalies" EXACT [] synonym: "Ocular anterior chamber abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0003151 xref: UMLS:C0266546 xref: UMLS:C1299003 xref: UMLS:C1704258 xref: UMLS:C2069970 is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0000594 name: Shallow anterior chamber namespace: medical_genetics xref: UMLS:C0860573 is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0000595 name: Cortical blindness namespace: medical_genetics xref: UMLS:C0155320 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000597 name: Ophthalmoparesis namespace: medical_genetics 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:C0029089 xref: UMLS:C0751401 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000598 name: Abnormality of the ear namespace: medical_genetics def: "An abnormality of the `ear` (FMA:52780)." [HPO:probinson] comment: Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future. synonym: "Ear anomaly" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0013443 xref: UMLS:C0266589 xref: UMLS:C0521421 xref: UMLS:C1414437 xref: UMLS:C1704258 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000599 name: Abnormality of the frontal hairline namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0205123 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0031354 xref: UMLS:C1278903 xref: UMLS:C1704258 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0000601 name: Hypotelorism namespace: medical_genetics alt_id: HP:0007877 def: "Interpupillary distance less than 2 SD above the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes)." [HPO:probinson, pmid:19125427] synonym: "Closely spaced eyes" EXACT [] synonym: "Ocular hypotelorism" EXACT [] xref: UMLS:C0424711 is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0000602 name: Ophthalmoplegia namespace: medical_genetics xref: UMLS:C0029089 is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0000603 name: Central scotoma namespace: medical_genetics synonym: "Central scotomata" EXACT [] xref: UMLS:C0152191 is_a: HP:0000575 ! Scotoma [Term] id: HP:0000604 name: Impaired saccades namespace: medical_genetics xref: UMLS:C1842584 is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000605 name: Supranuclear gaze palsy namespace: medical_genetics synonym: "Supranuclear gaze paralysis" EXACT [] xref: UMLS:C1720037 xref: UMLS:C1852469 is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0000606 name: Abnormality of the periorbital region namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0230064 xref: UMLS:C1704258 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000607 name: Periorbital wrinkles namespace: medical_genetics synonym: "Excess periorbital skin wrinkling" EXACT [] synonym: "Periorbital wrinkling" EXACT [] xref: UMLS:C0037301 xref: UMLS:C0230064 xref: UMLS:C0444099 xref: UMLS:C0448795 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C1705106 xref: UMLS:C1844605 xref: UMLS:C1844616 xref: UMLS:C1883564 xref: UMLS:C1979886 is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0100678 ! Wrinkled skin [Term] id: HP:0000608 name: Macular degeneration namespace: medical_genetics xref: UMLS:C0024437 is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0000609 name: Optic nerve hypoplasia namespace: medical_genetics alt_id: HP:0007273 synonym: "Hypoplastic optic nerves" EXACT [] xref: UMLS:C0338502 xref: UMLS:C1843493 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve [Term] id: HP:0000610 name: Abnormality of the choroid namespace: medical_genetics def: "An abnormality of the `choroid` (FMA:58298)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0008520 xref: UMLS:C1305287 xref: UMLS:C1704258 is_a: HP:0000553 ! Abnormality of the uvea is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0000611 name: Choroid coloboma namespace: medical_genetics synonym: "Choroidal coloboma" EXACT [] synonym: "Coloboma of choroid " EXACT [] xref: UMLS:C0008520 xref: UMLS:C0009363 xref: UMLS:C0239054 xref: UMLS:C1305287 is_a: HP:0000589 ! Coloboma is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0000612 name: Iris coloboma namespace: medical_genetics def: "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson] synonym: "Coloboma of iris" EXACT [] synonym: "Coloboma of the iris" EXACT [] xref: UMLS:C0009363 xref: UMLS:C0022077 xref: UMLS:C0240063 xref: UMLS:C0266551 xref: UMLS:C1278891 is_a: HP:0000525 ! Abnormality of the iris is_a: HP:0000589 ! Coloboma [Term] id: HP:0000613 name: Photophobia namespace: medical_genetics def: "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators] xref: UMLS:C0085636 is_a: HP:0000504 ! Abnormality of vision is_a: HP:0001333 ! Abnormality of the sensory nervous system [Term] id: HP:0000614 name: Abnormality of the lacrimal duct namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0459624 xref: UMLS:C1704258 is_a: HP:0000521 ! Abnormality of tear glands or tear production [Term] id: HP:0000615 name: Abnormality of the pupil namespace: medical_genetics alt_id: HP:0008018 def: "An abnormality of the `pupil` (FMA:58252)." [HPO:probinson] synonym: "Pupillary abnormalities" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0034121 xref: UMLS:C0154936 xref: UMLS:C1704258 xref: UMLS:C2228476 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000616 name: Miosis namespace: medical_genetics xref: UMLS:C0026205 xref: UMLS:C0700310 xref: UMLS:C0728710 is_a: HP:0000615 ! Abnormality of the pupil [Term] id: HP:0000617 name: Abnormality of ocular smooth pursuit namespace: medical_genetics alt_id: HP:0007671 alt_id: HP:0008006 def: "An `abnormality of eye movement` (HP:0000496) characterized by impaired smooth-pursuit eye movements." [HPO:probinson] comment: 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:C0000768 xref: UMLS:C0034158 xref: UMLS:C1299003 xref: UMLS:C1704258 xref: UMLS:C1836393 xref: UMLS:C1836401 xref: UMLS:C1847844 xref: UMLS:C1855401 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000618 name: Blindness namespace: medical_genetics xref: UMLS:C0456909 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0000619 name: Impaired convergence namespace: medical_genetics xref: UMLS:C1846466 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000620 name: Dacrocystitis namespace: medical_genetics synonym: "Dacryocystitis" EXACT [] xref: UMLS:C0010930 is_a: HP:0000614 ! Abnormality of the lacrimal duct [Term] id: HP:0000621 name: Entropion namespace: medical_genetics def: "An abnormal turning inward of the upper and/or lower eyelid." [HPO:sdoelken] xref: UMLS:C0014390 is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000622 name: Blurred vision namespace: medical_genetics xref: UMLS:C0344232 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0000623 name: Supranuclear ophthalmoplegia namespace: medical_genetics xref: UMLS:C1408507 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000624 name: Epicanthal folds, mild namespace: medical_genetics xref: UMLS:C0229249 xref: UMLS:C0547040 is_a: HP:0000286 ! Epicanthus [Term] id: HP:0000625 name: Eyelid, cleft namespace: medical_genetics 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. synonym: "Eyelid coloboma" EXACT [] synonym: "Notched eyelid." EXACT [] xref: UMLS:C0015426 xref: UMLS:C0205242 xref: UMLS:C0205316 xref: UMLS:C0521573 xref: UMLS:C1280734 xref: UMLS:C2239120 is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0000589 ! Coloboma [Term] id: HP:0000627 name: Posterior embryotoxon namespace: medical_genetics def: "A posterior embryotoxon is the presence of a prominent and anteriorly displaced `line of Schwalbe` (FMA:58422)." [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. xref: UMLS:C0546967 is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000628 name: Abnormal, jerky eye movements namespace: medical_genetics xref: UMLS:C0497202 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000629 name: Periorbital fullness namespace: medical_genetics synonym: "Periorbital puffiness" EXACT [] xref: UMLS:C0230064 xref: UMLS:C1858036 is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0000630 name: Abnormality of retinal arteries namespace: medical_genetics synonym: "Retinal arterial abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0003842 xref: UMLS:C0035298 xref: UMLS:C0035300 xref: UMLS:C0035301 xref: UMLS:C0035331 xref: UMLS:C0151489 xref: UMLS:C0221464 xref: UMLS:C1704258 is_a: HP:0002620 ! Systemic artery abnormality is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0000631 name: Retinal arterial tortuosity namespace: medical_genetics xref: UMLS:C0423401 is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0000632 name: Lacrimation abnormality namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0423153 xref: UMLS:C1704258 is_a: HP:0000521 ! Abnormality of tear glands or tear production [Term] id: HP:0000633 name: Decreased lacrimation namespace: medical_genetics xref: UMLS:C0235857 is_a: HP:0000632 ! Lacrimation abnormality [Term] id: HP:0000634 name: Impaired ocular abduction namespace: medical_genetics xref: UMLS:C1846462 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000635 name: Blue irides namespace: medical_genetics synonym: "Blue eyes" EXACT [] xref: UMLS:C0578626 xref: UMLS:C1439251 is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0000636 name: Upper eyelid coloboma namespace: medical_genetics def: "A `coloboma` (HP:0000589) of the `upper eyelid` (FMA:54439)." [HPO:probinson] synonym: "Upper eyelid colobomas" EXACT [] xref: UMLS:C1863872 is_a: HP:0000625 ! Eyelid, cleft [Term] id: HP:0000637 name: Long palpebral fissures namespace: medical_genetics alt_id: HP:0007904 synonym: "Wide palpebral fissures" EXACT [] xref: UMLS:C1835761 xref: UMLS:C1849340 is_a: HP:0200007 ! Abnormal size of the palpebral fissures [Term] id: HP:0000639 name: Nystagmus namespace: medical_genetics def: "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] xref: UMLS:C0028738 xref: UMLS:C1963184 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000640 name: Gaze-evoked nystagmus namespace: medical_genetics def: "Nystagmus made apparent by looking to the right or to the left." [HPO:curators] xref: UMLS:C0028738 xref: UMLS:C0553544 xref: UMLS:C1444748 xref: UMLS:C1963184 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000641 name: Dysmetric saccades namespace: medical_genetics xref: UMLS:C1836392 is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000642 name: Red-green dyschromatopsia namespace: medical_genetics xref: UMLS:C1833800 is_a: HP:0000551 ! Abnormal color vision [Term] id: HP:0000643 name: Blepharospasm namespace: medical_genetics def: "An involuntary recurrent spasm of both eyelids." [HPO:curators] xref: UMLS:C0005747 is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000646 name: Amblyopia namespace: medical_genetics def: "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. 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." [HPO:curators] xref: UMLS:C0002418 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0000647 name: Sclerocornea namespace: medical_genetics xref: UMLS:C1853235 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0000648 name: Optic atrophy namespace: medical_genetics def: "`Atrophy` (MPATH:127) of the `optic nerve` (FMA:50863)." [HPO:probinson] synonym: "OPtic nerve atrophy" EXACT [] xref: UMLS:C0029124 is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0000649 name: Abnormality of vision evoked potentials namespace: medical_genetics 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:C0000768 xref: UMLS:C0015217 xref: UMLS:C0205161 xref: UMLS:C0302357 xref: UMLS:C0522214 xref: UMLS:C0546834 xref: UMLS:C1704258 xref: UMLS:C2347472 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000650 name: Pattern visual evoked potentials show reduced amplitude namespace: medical_genetics xref: UMLS:C0015217 xref: UMLS:C0392756 xref: UMLS:C0449774 xref: UMLS:C0546834 xref: UMLS:C1547282 xref: UMLS:C2346753 is_a: HP:0000649 ! Abnormality of vision evoked potentials [Term] id: HP:0000651 name: Diplopia namespace: medical_genetics def: "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:curators] synonym: "Double vision" EXACT [] xref: UMLS:C0012569 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000652 name: Lower eyelid coloboma namespace: medical_genetics def: "A `coloboma` (HP:0000589) of the `lower eyelid` (FMA:54442)." [HPO:probinson] synonym: "Lower lid coloboma" EXACT [] xref: UMLS:C0441994 xref: UMLS:C0521573 xref: UMLS:C1837826 is_a: HP:0000625 ! Eyelid, cleft [Term] id: HP:0000653 name: Sparse eyelashes namespace: medical_genetics def: "Decreased density/number of eyelashes." [pmid:19125427] synonym: "Thin, sparse eyelashes" EXACT [] xref: UMLS:C1843300 xref: UMLS:C1859387 is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0000654 name: Decreased electroretinogram (ERG) namespace: medical_genetics synonym: "Decreased amplitudes on flash visual electroretinogram" EXACT [] synonym: "Decreased electroretinogram" EXACT [] synonym: "Decreased electroretinogram response" EXACT [] synonym: "Electroretinography shows decreased amplitudes" EXACT [] synonym: "Reduced electroretinogram" EXACT [] synonym: "Reduced electroretinogram (ERG)" EXACT [] xref: UMLS:C0013867 xref: UMLS:C0205216 xref: UMLS:C0234621 xref: UMLS:C0262485 xref: UMLS:C0392756 xref: UMLS:C0871261 xref: UMLS:C1413133 xref: UMLS:C1547282 xref: UMLS:C1704632 xref: UMLS:C1706817 xref: UMLS:C2346753 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0000655 name: Vitreoretinal degeneration namespace: medical_genetics xref: UMLS:C0344290 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0000656 name: Ectropion namespace: medical_genetics def: "An abnormal turning outward of the lower eyelid." [HPO:sdoelken] comment: Ectropion irefers to a turning outwards of lower eyelid. xref: UMLS:C0013592 is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000657 name: Oculomotor apraxia namespace: medical_genetics synonym: "Ocular motor apraxia" EXACT [] xref: UMLS:C0271270 is_a: HP:0000496 ! Abnormality of eye movement is_a: HP:0002186 ! Apraxia [Term] id: HP:0000658 name: Eyelid apraxia namespace: medical_genetics xref: UMLS:C1142448 is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000659 name: Peters anomaly namespace: medical_genetics 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] xref: UMLS:C0344559 is_a: HP:0000525 ! Abnormality of the iris is_a: HP:0007696 ! Anterior segment mesencyhmal dysgenesis [Term] id: HP:0000660 name: Lipemia retinalis namespace: medical_genetics xref: UMLS:C0339477 is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000661 name: Palpebral fissure narrowing on adduction namespace: medical_genetics xref: UMLS:C0229244 xref: UMLS:C0231457 xref: UMLS:C0332463 xref: UMLS:C1269600 is_a: HP:0000581 ! Blepharophimosis [Term] id: HP:0000662 name: Night blindness namespace: medical_genetics alt_id: HP:0007895 xref: UMLS:C0028077 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000663 name: Enophthalmos namespace: medical_genetics xref: UMLS:C0014306 is_a: HP:0000490 ! Deeply set eye [Term] id: HP:0000664 name: Synophrys namespace: medical_genetics alt_id: HP:0002210 def: "Fusion of the left and right `eyebrow` (FMA:54237)." [HPO:probinson] synonym: "Synophris" EXACT [] xref: UMLS:C0431447 is_a: HP:0010720 ! Abnormal hair growth pattern is_a: HP:0010747 ! Medial flaring of the eyebrow [Term] id: HP:0000665 name: Lens dislocation namespace: medical_genetics synonym: "Dislocated lens" EXACT [] synonym: "Dislocated lenses" EXACT [] xref: UMLS:C0023309 is_a: HP:0000517 ! Abnormality of the lens [Term] id: HP:0000666 name: Nystagmus, horizontal namespace: medical_genetics synonym: "Horizontal nystagmus" EXACT [] xref: UMLS:C0028738 xref: UMLS:C0205126 xref: UMLS:C0271385 xref: UMLS:C1963184 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000667 name: Phthisis bulbi namespace: medical_genetics def: "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease." [HPO:curators] comment: Phthisis bulbi refers to atrophy and degeneration of a blind eye. xref: UMLS:C0271007 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000668 name: Hypodontia namespace: medical_genetics def: "A developmental anomaly characterized by a `reduced number of` (PATO:0001999) 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. xref: UMLS:C0020608 is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0000670 name: Carious teeth namespace: medical_genetics synonym: "Caries" EXACT [] synonym: "Dental caries" EXACT [] synonym: "Frequent caries" EXACT [] xref: UMLS:C0011334 xref: UMLS:C0333519 xref: UMLS:C1854784 is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0000672 name: Supernumerary tooth namespace: medical_genetics def: "Extra tooth or teeth." [pmid:19125428] 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. synonym: "Supernumerary teeth" EXACT [] xref: UMLS:C0040457 is_a: HP:0011069 ! Increased number of teeth [Term] id: HP:0000673 name: Peg-shaped incisors namespace: medical_genetics def: "Peg-shaped `incisor tooth` (FMA:12823)." [HPO:ibailleulforestier] xref: UMLS:C1856136 is_a: HP:0000698 ! Conical teeth [Term] id: HP:0000674 name: Anodontia namespace: medical_genetics alt_id: HP:0006484 def: "The congenital `absence` (PATO:0002000) 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: UMLS:C0000846 xref: UMLS:C0226984 xref: UMLS:C0332907 xref: UMLS:C0399352 xref: UMLS:C1504306 xref: UMLS:C2119045 is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0000675 name: Prominent upper central incisors namespace: medical_genetics synonym: "Long maxillary central incisors" EXACT [] synonym: "Prominent upper incisors" EXACT [] synonym: "Prominent, protruding upper incisors" EXACT [] xref: UMLS:C0021156 xref: UMLS:C0024947 xref: UMLS:C0205166 xref: UMLS:C0205402 xref: UMLS:C0333056 xref: UMLS:C0447273 xref: UMLS:C1282910 xref: UMLS:C1541679 xref: UMLS:C1706317 xref: UMLS:C1853637 is_a: HP:0000676 ! Abnormality of the incisors [Term] id: HP:0000676 name: Abnormality of the incisors namespace: medical_genetics def: "An abnormality of the `Incisor tooth` (FMA:12823)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0021156 xref: UMLS:C1704258 is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0000677 name: Oligodontia namespace: medical_genetics alt_id: HP:0000702 def: "A developmental anomaly characterized by a `reduced number of` (PATO:0001999) 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 is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0000678 name: Dental crowding namespace: medical_genetics def: "Overlapping teeth within an alveolar ridge." [pmid:19125428] synonym: "Crowded teeth" EXACT [] synonym: "Dental overcrowding" EXACT [] xref: UMLS:C0040433 xref: UMLS:C1837762 xref: UMLS:C1847525 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000679 name: Taurodontia namespace: medical_genetics def: "`Increased volume` (PATO:0000595) of `dental pulp` (FMA:55631) of `permanent molar` (FMA:84207)." [HPO:ibailleulforestier] comment: Body of the tooth and pulp chamber is enlarged. synonym: "Taurodontism" EXACT [] xref: UMLS:C0266039 xref: UMLS:C1848911 is_a: HP:0006486 ! Abnormality of the dental root is_a: HP:0011071 ! Abnormality of permanent molar morphology [Term] id: HP:0000680 name: Delayed eruption of primary teeth namespace: medical_genetics def: "`Delayed` (PATO:0000502) `tooth eruption` (MeSH:D014078) affecting the `primary dentition` (FMA:75151)." [HPO:ibailleulforestier] synonym: "Delayed eruption of deciduous teeth" EXACT [] synonym: "Delayed primary teeth eruption" EXACT [] xref: UMLS:C0040455 xref: UMLS:C1839943 xref: UMLS:C1867100 is_a: HP:0000684 ! Delayed eruption is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0000682 name: Abnormality of dental enamel namespace: medical_genetics def: "An abnormality of the `dental enamel` (FMA:55629)." [HPO:probinson] comment: The dental enamel is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite. synonym: "Abnormal tooth enamel" EXACT [] synonym: "Enamel abnormalities" EXACT [] synonym: "Enamel abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0011350 xref: UMLS:C0205161 xref: UMLS:C1704258 xref: UMLS:C2347472 is_a: HP:0011061 ! Abnormality of dental structure [Term] id: HP:0000683 name: Grayish enamel namespace: medical_genetics xref: UMLS:C1854783 is_a: HP:0000682 ! Abnormality of dental enamel is_a: HP:0011073 ! Abnormality of dental color [Term] id: HP:0000684 name: Delayed eruption namespace: medical_genetics alt_id: HP:0000686 alt_id: HP:0006314 alt_id: HP:0006328 def: "Tooth eruption more than 2 SD beyond the mean eruption age." [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. 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: "Late eruption of teeth" EXACT [] synonym: "Late tooth eruption" EXACT [] xref: UMLS:C0015230 xref: UMLS:C0028877 xref: UMLS:C0040426 xref: UMLS:C0205087 xref: UMLS:C0205421 xref: UMLS:C0226984 xref: UMLS:C0239174 xref: UMLS:C0302295 xref: UMLS:C0424605 xref: UMLS:C1533692 xref: UMLS:C1839943 xref: UMLS:C1866235 xref: UMLS:C2239132 is_a: HP:0006292 ! Abnormalities of dental eruption [Term] id: HP:0000685 name: Hypoplasia of teeth namespace: medical_genetics alt_id: HP:0000688 def: "Developmental hypoplasia of `teeth` (FMA:12516)." [HPO:ibailleulforestier] synonym: "Absent/hypoplastic teeth" EXACT [] xref: UMLS:C0332197 xref: UMLS:C1855437 is_a: HP:0011061 ! Abnormality of dental structure [Term] id: HP:0000687 name: Widely spaced teeth namespace: medical_genetics 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. synonym: "Multiple diastemata" EXACT [] synonym: "Wide-spaced teeth" EXACT [] synonym: "Widely-spaced teeth" EXACT [] xref: UMLS:C1844813 xref: UMLS:C1855414 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000689 name: Dental malocclusion namespace: medical_genetics 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: UMLS:C0024636 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000690 name: Agenesis of maxillary lateral incisor namespace: medical_genetics def: "`Agenesis` (MPATH:57) of one or more maxillary lateral incisor, comprising the `maxillary lateral primary incisor` (FMA84217) and `upper lateral secondary incisor` (FMA:55724)." [HPO:ibailleulforestier] synonym: "Absent upper lateral incisors" EXACT [] xref: UMLS:C0000846 xref: UMLS:C0332907 xref: UMLS:C0447274 xref: UMLS:C1282910 xref: UMLS:C1541680 xref: UMLS:C1849950 xref: UMLS:C2119045 is_a: HP:0006485 ! Agenesis of incisor [Term] id: HP:0000691 name: Microdontia namespace: medical_genetics def: "Mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth." [pmid:19125428] comment: Standard reference has means and standard deviations by gender [Moyers et al. [1976]]. 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. synonym: "Small teeth" EXACT [] xref: UMLS:C0240340 xref: UMLS:C1850267 is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0000692 name: Misalignment of teeth namespace: medical_genetics alt_id: HP:0006303 alt_id: HP:0006478 def: "Abnormal alignment, positioning, or spacing of the teeth." [HPO:ibailleulforestier] synonym: "Abnormal teeth spacing" EXACT [] synonym: "Abnormality of teeth spacing" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0040426 xref: UMLS:C0205161 xref: UMLS:C1275957 xref: UMLS:C1704258 xref: UMLS:C1710137 xref: UMLS:C2239132 xref: UMLS:C2347472 is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0000693 name: Malaligned teeth namespace: medical_genetics xref: UMLS:C1842223 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000694 name: Shell teeth namespace: medical_genetics 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 is_a: HP:0000703 ! Dentinogenesis imperfecta [Term] id: HP:0000695 name: Natal tooth namespace: medical_genetics def: "Erupted tooth or teeth at birth." [pmid:19125428] synonym: "Natal teeth" EXACT [] synonym: "Neonatal teeth" EXACT [] xref: UMLS:C0027443 xref: UMLS:C0266049 is_a: HP:0006292 ! Abnormalities of dental eruption [Term] id: HP:0000696 name: Delayed eruption of secondary teeth namespace: medical_genetics synonym: "Delayed eruption of permanent teeth" EXACT [] synonym: "Delayed permanent dentition" EXACT [] xref: UMLS:C0040426 xref: UMLS:C0175668 xref: UMLS:C0205436 xref: UMLS:C0348070 xref: UMLS:C1522484 xref: UMLS:C1839943 xref: UMLS:C1859820 xref: UMLS:C2239132 is_a: HP:0000684 ! Delayed eruption [Term] id: HP:0000698 name: Conical teeth namespace: medical_genetics xref: UMLS:C0266037 is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0000699 name: Diastema namespace: medical_genetics 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. xref: UMLS:C0011998 xref: UMLS:C1014152 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000700 name: Periapical radiolucencies namespace: medical_genetics xref: UMLS:C1852169 is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0000701 name: Loss of teeth namespace: medical_genetics synonym: "Premature tooth loss" EXACT [] xref: UMLS:C0040426 xref: UMLS:C0232513 xref: UMLS:C1517945 xref: UMLS:C2239132 is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0000703 name: Dentinogenesis imperfecta namespace: medical_genetics def: "A developmental defect of dentin." [HPO:ibailleulforestier] xref: UMLS:C0011436 is_a: HP:0010299 ! Abnormality of dentin [Term] id: HP:0000704 name: Periodontal disease namespace: medical_genetics xref: UMLS:C0031090 is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0000705 name: Amelogenesis imperfecta namespace: medical_genetics alt_id: HP:0006284 alt_id: HP:0006310 alt_id: HP:0006325 alt_id: HP:0006327 alt_id: HP:0006331 def: "A `developmental dysplasia` (MPATH:64) of the `dental enamel` (FMA:55629)." [HPO:ibailleulforestier] 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. xref: UMLS:C0002452 xref: UMLS:C0243069 xref: UMLS:C0332307 xref: UMLS:C0399367 xref: UMLS:C0543481 xref: UMLS:C1547052 xref: UMLS:C1552651 xref: UMLS:C1849011 is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0000706 name: Unerupted teeth namespace: medical_genetics xref: UMLS:C0040458 is_a: HP:0000684 ! Delayed eruption [Term] id: HP:0000707 name: Abnormality of the nervous system namespace: medical_genetics def: "An abnormality of the `nervous system` (FMA:7157)." [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 [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0205494 xref: UMLS:C1704258 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000708 name: Behavioural/Psychiatric Abnormality namespace: medical_genetics alt_id: HP:0000715 synonym: "Behavioral changes" EXACT [] synonym: "Behavioral disorders" EXACT [] synonym: "Behavioral disturbances" EXACT [] synonym: "Behavioral problems" EXACT [] synonym: "Behavioral/psychiatric abnormalities" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0004927 xref: UMLS:C0004930 xref: UMLS:C0033873 xref: UMLS:C0205487 xref: UMLS:C0260653 xref: UMLS:C0260657 xref: UMLS:C0481391 xref: UMLS:C0542299 xref: UMLS:C1704258 xref: UMLS:C1822046 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0000709 name: Psychosis namespace: medical_genetics def: "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] xref: UMLS:C0033975 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000710 name: Hyperorality namespace: medical_genetics synonym: "Hyperoralia" EXACT [] xref: UMLS:C1838320 xref: UMLS:C1843802 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000711 name: Restlessness namespace: medical_genetics xref: UMLS:C0085631 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000712 name: Emotional lability namespace: medical_genetics alt_id: HP:0008766 synonym: "Emotional instability" EXACT [] xref: UMLS:C0085633 is_a: HP:0001296 ! Mood alterations [Term] id: HP:0000713 name: Agitation namespace: medical_genetics xref: UMLS:C0085631 xref: UMLS:C1963060 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000714 name: Auditory and visual halucinations namespace: medical_genetics synonym: "Auditory and visual hallucinations" EXACT [] xref: UMLS:C0233763 xref: UMLS:C0234621 xref: UMLS:C0439825 is_a: HP:0000738 ! Hallucinations [Term] id: HP:0000716 name: Depression namespace: medical_genetics def: "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] xref: UMLS:C0011570 xref: UMLS:C0011581 xref: UMLS:C0344315 xref: UMLS:C0349217 xref: UMLS:C0460137 xref: UMLS:C1579931 xref: UMLS:C2364072 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000717 name: Autism namespace: medical_genetics 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] xref: UMLS:C0004352 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000718 name: Aggressive behavior namespace: medical_genetics 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 [] xref: UMLS:C0001807 xref: UMLS:C1457883 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000719 name: Inappropriate behavior namespace: medical_genetics xref: UMLS:C0233522 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000720 name: Mood swings namespace: medical_genetics def: "An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels." [HPO:curators] xref: UMLS:C0085633 is_a: HP:0001296 ! Mood alterations [Term] id: HP:0000721 name: Lack of spontaneous play namespace: medical_genetics xref: UMLS:C0032214 xref: UMLS:C0205359 xref: UMLS:C0332268 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000722 name: Obsessive-compulsive disorder namespace: medical_genetics 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 disorder" EXACT [] synonym: "Obsessive-compulsive behavior" EXACT [] xref: UMLS:C0028768 xref: UMLS:C0600104 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000723 name: Restrictive behaviour, interests, and activities namespace: medical_genetics xref: UMLS:C0004927 xref: UMLS:C0441655 xref: UMLS:C0443288 xref: UMLS:C0543488 xref: UMLS:C2003852 xref: UMLS:C2239122 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000724 name: Hyperphagia namespace: medical_genetics xref: UMLS:C0020505 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000725 name: Psychotic episodes namespace: medical_genetics xref: UMLS:C0338614 is_a: HP:0000709 ! Psychosis [Term] id: HP:0000726 name: Dementia namespace: medical_genetics xref: UMLS:C0497327 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0000727 name: Frontal lobe dementia namespace: medical_genetics xref: UMLS:C1846712 is_a: HP:0000726 ! Dementia [Term] id: HP:0000728 name: Impaired ability to form peer relationships namespace: medical_genetics xref: UMLS:C0013058 xref: UMLS:C0085732 xref: UMLS:C0221099 xref: UMLS:C0348078 xref: UMLS:C0376315 xref: UMLS:C0439849 xref: UMLS:C0679739 xref: UMLS:C0684336 xref: UMLS:C1522492 is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000729 name: Pervasive developmental disorder namespace: medical_genetics xref: UMLS:C0524528 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0000730 name: Poor school performance namespace: medical_genetics xref: UMLS:C1843367 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000732 name: Inflexible adherence to routines or rituals namespace: medical_genetics xref: UMLS:C0205547 xref: UMLS:C0233622 xref: UMLS:C1510802 xref: UMLS:C2364055 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000733 name: Stereotyped, repetitive behaviour namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Stereotyped behavior" EXACT [] synonym: "Stereotypic behavior" EXACT [] synonym: "Stereotypic behaviors" EXACT [] synonym: "Stereotypy" EXACT [] synonym: "Sterotyped behavior" EXACT [] xref: UMLS:C0038271 xref: UMLS:C0038272 xref: UMLS:C0038273 xref: UMLS:C1827547 xref: UMLS:C1846041 xref: UMLS:C1868318 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000734 name: Disinhibition namespace: medical_genetics xref: UMLS:C0234410 xref: UMLS:C0424296 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000735 name: Impaired social interactions namespace: medical_genetics 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:C0150080 xref: UMLS:C1839794 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000736 name: Short attention span namespace: medical_genetics 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 xref: UMLS:C1865000 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000737 name: Irritability namespace: medical_genetics xref: UMLS:C0022107 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000738 name: Hallucinations namespace: medical_genetics synonym: "Hallucination" EXACT [] xref: UMLS:C0018524 xref: UMLS:C2364080 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000739 name: Anxiety namespace: medical_genetics xref: UMLS:C0003467 xref: UMLS:C0860603 xref: UMLS:C1963064 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000740 name: Anxiety (with pheochromocytoma) namespace: medical_genetics xref: UMLS:C0003467 xref: UMLS:C0031511 xref: UMLS:C0860603 xref: UMLS:C1706920 xref: UMLS:C1963064 is_a: HP:0000739 ! Anxiety [Term] id: HP:0000741 name: Apathy namespace: medical_genetics xref: UMLS:C0085632 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000742 name: Self-mutilation namespace: medical_genetics synonym: "Self mutilation" EXACT [] xref: UMLS:C0036601 xref: UMLS:C2242914 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000743 name: Frontal release signs namespace: medical_genetics xref: UMLS:C1836153 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000744 name: Low frustration tolerance namespace: medical_genetics xref: UMLS:C0548883 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000745 name: Lack of motivation namespace: medical_genetics xref: UMLS:C0026605 xref: UMLS:C0332268 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000746 name: Delusions namespace: medical_genetics xref: UMLS:C0011253 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000747 name: Forgetfulness namespace: medical_genetics xref: UMLS:C0542476 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000748 name: Inappropriate laughter namespace: medical_genetics xref: UMLS:C0424304 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000749 name: Paroxysmal bursts of laughter namespace: medical_genetics synonym: "Paroxysmal laughter" EXACT [] xref: UMLS:C0023133 xref: UMLS:C0205311 xref: UMLS:C1862914 xref: UMLS:C1881705 is_a: HP:0000748 ! Inappropriate laughter [Term] id: HP:0000750 name: Impaired language development namespace: medical_genetics alt_id: HP:0002336 def: "A type of `Developmental retardation` (HP:0001263) characterized by 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: "Delayed language development" EXACT [] synonym: "Language delay" EXACT [] synonym: "Language delayed" EXACT [] synonym: "Language development deficit" EXACT [] synonym: "Poor language development" EXACT [] xref: UMLS:C0023008 xref: UMLS:C0023012 xref: UMLS:C0205421 xref: UMLS:C0454644 xref: UMLS:C1837687 xref: UMLS:C1847606 xref: UMLS:C1857784 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0000751 name: Personality changes namespace: medical_genetics synonym: "Personality change" EXACT [] xref: UMLS:C0240735 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000752 name: Hyperactivity namespace: medical_genetics alt_id: HP:0008764 synonym: "Hyperactive behavior" EXACT [] xref: UMLS:C0424295 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000753 name: Relatively higher cognitive abilities than classic autism (608636) namespace: medical_genetics xref: UMLS:C0004352 xref: UMLS:C0080103 xref: UMLS:C0205250 xref: UMLS:C0205345 xref: UMLS:C0392334 xref: UMLS:C0439658 xref: UMLS:C0439858 xref: UMLS:C1299351 xref: UMLS:C1522410 xref: UMLS:C1547039 is_a: HP:0000717 ! Autism [Term] id: HP:0000756 name: Agoraphobia namespace: medical_genetics xref: UMLS:C0001818 xref: UMLS:C2188188 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000757 name: Lack of insight namespace: medical_genetics xref: UMLS:C0233820 xref: UMLS:C0332268 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000758 name: Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures namespace: medical_genetics xref: UMLS:C0004927 xref: UMLS:C0015392 xref: UMLS:C0015457 xref: UMLS:C0017510 xref: UMLS:C0042153 xref: UMLS:C0221099 xref: UMLS:C0457083 xref: UMLS:C0553544 xref: UMLS:C0677505 xref: UMLS:C0684336 xref: UMLS:C0746940 xref: UMLS:C1262869 xref: UMLS:C1280202 xref: UMLS:C1947944 is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000759 name: Abnormality of the peripheral nervous system namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0206417 xref: UMLS:C1305921 xref: UMLS:C1704258 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0000760 name: Decreased motor nerve conduction velocity (NCV) (less than 38 m/s) namespace: medical_genetics xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0457379 xref: UMLS:C1513492 xref: UMLS:C1705994 xref: UMLS:C1857705 is_a: HP:0003431 ! Decreased motor nerve conduction velocity (NCV) [Term] id: HP:0000761 name: Decreased nerve conduction velocities (NCV), suggesting demyelination namespace: medical_genetics synonym: "Decreased nerve conduction velocities , suggesting demyelination" EXACT [] xref: UMLS:C0011304 xref: UMLS:C1705535 xref: UMLS:C1857705 is_a: HP:0000762 ! Decreased nerve conduction velocities [Term] id: HP:0000762 name: Decreased nerve conduction velocities namespace: medical_genetics synonym: "Abnormal nerve conduction" EXACT [] synonym: "Decreased nerve conduction velocity" EXACT [] synonym: "Delayed nerve conduction velocity" EXACT [] synonym: "Nerve conduction abnormalities" EXACT [] synonym: "Nerve conduction velocity slowing" EXACT [] synonym: "Reduced nerve conduction velocities" EXACT [] synonym: "Slow motor nerve conduction velocities" EXACT [] synonym: "Slow nerve conduction velocity" EXACT [] synonym: "Slowed nerve conduction velocities" EXACT [] xref: UMLS:C0234090 xref: UMLS:C0392756 xref: UMLS:C0429381 xref: UMLS:C0439834 xref: UMLS:C1855262 xref: UMLS:C1857640 xref: UMLS:C1857705 xref: UMLS:C1858521 xref: UMLS:C1866772 is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0003134 ! Abnormal motor and sensory nerve conduction [Term] id: HP:0000763 name: Sensory neuropathy namespace: medical_genetics alt_id: HP:0003410 def: "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators] synonym: "Peripheral sensory neuropathy" EXACT [] xref: UMLS:C0151313 is_a: HP:0001333 ! Abnormality of the sensory nervous system is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0000764 name: Axonal degeneration namespace: medical_genetics alt_id: HP:0006787 xref: UMLS:C1837496 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0000765 name: Abnormality of the thorax namespace: medical_genetics def: "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0817096 xref: UMLS:C1269614 xref: UMLS:C1456858 xref: UMLS:C1704258 is_a: HP:0009121 ! Abnormality of the axial skeleton [Term] id: HP:0000766 name: Abnormality of the sternum namespace: medical_genetics alt_id: HP:0000780 alt_id: HP:0006586 alt_id: HP:0006594 alt_id: HP:0006605 alt_id: HP:0006630 alt_id: HP:0006708 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:C0000768 xref: UMLS:C0016842 xref: UMLS:C0038293 xref: UMLS:C0158731 xref: UMLS:C1279580 xref: UMLS:C1704258 xref: UMLS:C1836643 xref: UMLS:C1859374 xref: UMLS:C1860493 is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000767 name: Pectus excavatum namespace: medical_genetics def: "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance." [HPO:curators] synonym: "Funnel chest" EXACT [] xref: UMLS:C0016842 is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0000768 name: Pectus carinatum namespace: medical_genetics def: "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators] xref: UMLS:C0158731 is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0000769 name: Abnormality of the breast namespace: medical_genetics def: "An abnormality of the `breast` (FMA:9601)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0006141 xref: UMLS:C1704258 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000770 name: Male breast abnormality namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0222604 xref: UMLS:C1704258 is_a: HP:0000769 ! Abnormality of the breast [Term] id: HP:0000771 name: Gynecomastia namespace: medical_genetics synonym: "Gynaecomastia" EXACT [] xref: UMLS:C0018418 xref: UMLS:C1963120 is_a: HP:0000770 ! Male breast abnormality [Term] id: HP:0000772 name: Abnormality of the ribs namespace: medical_genetics alt_id: HP:0006618 synonym: "Rib abnormalities" EXACT [] synonym: "Rib anomalies" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0035561 xref: UMLS:C0432172 xref: UMLS:C1704258 xref: UMLS:C1842083 is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000773 name: Short ribs namespace: medical_genetics xref: UMLS:C0426817 is_a: HP:0000908 ! Hypoplastic ribs [Term] id: HP:0000774 name: Narrow chest namespace: medical_genetics alt_id: HP:0000909 synonym: "Narrow shoulders" EXACT [] synonym: "Narrow thorax" EXACT [] xref: UMLS:C0426790 xref: UMLS:C1839809 xref: UMLS:C1843667 is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0000775 name: Abnormality of the diaphragm namespace: medical_genetics alt_id: HP:0005204 def: "Any abnormality of the `diaphragm` (FMA:13295)." [HPO:probinson] synonym: "Diaphragmatic defect" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0011980 xref: UMLS:C0042241 xref: UMLS:C1279038 xref: UMLS:C1704258 xref: UMLS:C1705367 xref: UMLS:C1705368 xref: UMLS:C1848873 is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0001438 ! Abnormality of the abdomen is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0000776 name: Diaphragmatic hernia namespace: medical_genetics alt_id: HP:0006604 def: "The presence of a `hernia` (MPATH:75) of the `diaphragm` (FMA:13295)." [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: "Congenital diaphragmatic hernia" EXACT [] xref: UMLS:C0019284 xref: UMLS:C0235833 is_a: HP:0000775 ! Abnormality of the diaphragm [Term] id: HP:0000777 name: Abnormality of the thymus namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Thymic hypoplasia" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0040112 xref: UMLS:C0040113 xref: UMLS:C0685891 xref: UMLS:C1015036 xref: UMLS:C1704258 is_a: HP:0010986 ! Abnormality of immune system organ [Term] id: HP:0000778 name: Hypoplasia of the thymus namespace: medical_genetics def: "Underdevelopment of the `thymus` (FMA:9607)." [HPO:curators] synonym: "Thymus hypoplasia" EXACT [] xref: UMLS:C0685891 is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus [Term] id: HP:0000782 name: Abnormality of the scapulae namespace: medical_genetics def: "Any abnormality of the scapulae (shoulder blades)." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0036277 xref: UMLS:C1704258 is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000786 name: Primary amenorrhea namespace: medical_genetics xref: UMLS:C0232939 is_a: HP:0000141 ! Amenorrhea [Term] id: HP:0000787 name: Kidney stones namespace: medical_genetics alt_id: HP:0000102 synonym: "Nephrolithiasis" EXACT [] synonym: "Renal calculi" EXACT [] synonym: "Renal stones" EXACT [] xref: UMLS:C0022650 xref: UMLS:C0392525 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000789 name: Infertility namespace: medical_genetics xref: UMLS:C0021359 is_a: HP:0000144 ! Decreased fertility [Term] id: HP:0000790 name: Hematuria namespace: medical_genetics 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: UMLS:C0018965 xref: UMLS:C0221752 is_a: HP:0000077 ! Abnormality of the kidney is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0000791 name: Uric acid urolithiasis namespace: medical_genetics xref: UMLS:C0403719 is_a: HP:0000787 ! Kidney stones [Term] id: HP:0000792 name: Kidney malformation namespace: medical_genetics alt_id: HP:0004726 alt_id: HP:0008712 def: "A malformation of the `kidney` (FMA:7203)." [HPO:probinson] synonym: "Renal malformation" EXACT [] synonym: "Structural kidney abnormalities" EXACT [] synonym: "Structural renal anomalies" EXACT [] xref: UMLS:C0266292 xref: UMLS:C1841991 xref: UMLS:C1859756 xref: UMLS:C1866935 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000793 name: Membranoproliferative glomerulonephritis namespace: medical_genetics xref: UMLS:C0017662 is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0000794 name: IgA nephropathy namespace: medical_genetics xref: UMLS:C0017661 is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0000795 name: Abnormality of the urethra namespace: medical_genetics def: "An abnormality of the `urethra` (FMA:19667), i.e., of the tube which connects the urinary bladder to the outside of the body." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0041967 xref: UMLS:C1281574 xref: UMLS:C1550675 xref: UMLS:C1704258 is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0010936 ! Abnormality of the lower urinary tract [Term] id: HP:0000796 name: Urethral obstruction namespace: medical_genetics def: "Obstruction of the flow of urine through the `urethra` (FMA:19667)." [HPO:probinson] xref: UMLS:C0041972 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0000798 name: Oligospermia namespace: medical_genetics xref: UMLS:C0028960 xref: UMLS:C0268980 xref: UMLS:C0868910 is_a: HP:0000025 ! Functional abnormality of male internal genitalia [Term] id: HP:0000799 name: Fatty kidneys namespace: medical_genetics xref: UMLS:C0022646 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000800 name: Cystic renal dysplasia namespace: medical_genetics synonym: "Bilateral cystic dysplasia" EXACT [] synonym: "Renal cystic dysplasia" EXACT [] synonym: "Renal dysplasia, cystic" EXACT [] xref: UMLS:C0010709 xref: UMLS:C0205207 xref: UMLS:C0266313 xref: UMLS:C1834931 xref: UMLS:C1842693 is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000801 name: Nephrosis namespace: medical_genetics xref: UMLS:C0027720 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000802 name: Impotence namespace: medical_genetics synonym: "Erectile dysfunction" EXACT [] xref: UMLS:C0242350 xref: UMLS:C2187990 is_a: HP:0000080 ! Genital functional abnormality is_a: HP:0100639 ! Erectile abnormalities [Term] id: HP:0000803 name: Renal cortical cysts namespace: medical_genetics synonym: "Cortical cysts" EXACT [] synonym: "Venal cortical cysts" EXACT [] xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022646 xref: UMLS:C0022655 xref: UMLS:C0268800 xref: UMLS:C1859373 xref: UMLS:C1969144 is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000804 name: Urinary xanthine stones namespace: medical_genetics synonym: "Xanthine stones" EXACT [] xref: UMLS:C1848431 xref: UMLS:C1854991 is_a: HP:0000787 ! Kidney stones [Term] id: HP:0000805 name: Enuresis namespace: medical_genetics def: "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." [HPO:sdoelken] xref: UMLS:C0014394 xref: UMLS:C0270327 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000806 name: Selective proximal tubular damage namespace: medical_genetics xref: UMLS:C0010957 xref: UMLS:C0022677 xref: UMLS:C1707391 xref: UMLS:C1883709 is_a: HP:0000114 ! Proximal renal tubule defect [Term] id: HP:0000807 name: Glandular hypospadias namespace: medical_genetics xref: UMLS:C0452168 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000808 name: Penoscrotal hypospadias namespace: medical_genetics def: "A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum." [HPO:curators] xref: UMLS:C0452147 is_a: HP:0003244 ! Penile hypospadias [Term] id: HP:0000809 name: Urinary tract atresia namespace: medical_genetics xref: UMLS:C0042027 xref: UMLS:C0243066 xref: UMLS:C1508753 xref: UMLS:C2119047 is_a: HP:0000079 ! Abnormality of the urinary system created_by: peter creation_date: 2008-02-27T04:07:00Z [Term] id: HP:0000810 name: Orotic acid urinary obstruction namespace: medical_genetics xref: UMLS:C0029300 xref: UMLS:C0178879 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0000811 name: Abnormal external genitalia namespace: medical_genetics xref: UMLS:C0042993 xref: UMLS:C0205161 xref: UMLS:C0227605 xref: UMLS:C2347472 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000812 name: Abnormal internal genitalia namespace: medical_genetics xref: UMLS:C0205161 xref: UMLS:C0836200 xref: UMLS:C2347472 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000813 name: Bicornuate uterus namespace: medical_genetics def: "The presence of a `bicornuate` (PATO:0002161) `uterus` (FMA:17558)." [HPO:probinson] comment: Uterus with two horn-shaped branches. xref: UMLS:C0266387 is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0000814 name: Multiple small renal cortical cysts namespace: medical_genetics xref: UMLS:C0022655 xref: UMLS:C1305756 xref: UMLS:C2145688 is_a: HP:0000803 ! Renal cortical cysts [Term] id: HP:0000815 name: Hypergonadotropic hypogonadism namespace: medical_genetics 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:C0022735 xref: UMLS:C0271623 xref: UMLS:C0948896 xref: UMLS:C1384582 xref: UMLS:C1415538 is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000816 name: Abnormality of Krebs cycle metabolism namespace: medical_genetics def: "An abnormality of the `tricarboxylic acid cycle` (GO:0006099)." [HPO:probinson] synonym: "Abnormality of citric acid cycle" EXACT [HPO:curators] synonym: "Abnormality of the tricarboxylic cycle" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0008858 xref: UMLS:C0025519 xref: UMLS:C0025520 xref: UMLS:C1704258 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2008-03-17T12:58:00Z [Term] id: HP:0000817 name: Poor eye contact namespace: medical_genetics xref: UMLS:C1445953 is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000818 name: Abnormality of the endocrine system namespace: medical_genetics def: "Ab abnormality of the `endocrine system` (FMA:9668)." [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. xref: UMLS:C0000768 xref: UMLS:C0014136 xref: UMLS:C0521425 xref: UMLS:C1704258 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000819 name: Diabetes mellitus namespace: medical_genetics alt_id: HP:0008217 alt_id: HP:0008234 alt_id: HP:0008260 synonym: "Diabetes mellitus, insulin-dependent" EXACT [] synonym: "Insulin dependent diabetes mellitus" EXACT [] synonym: "Insulin- dependent diabetes mellitus" EXACT [] synonym: "Insulin-dependent diabetes mellitus" EXACT [] xref: UMLS:C0011849 xref: UMLS:C0011854 xref: UMLS:C0021641 xref: UMLS:C0851827 xref: UMLS:C1145751 xref: UMLS:C1533581 xref: UMLS:C1701901 xref: UMLS:C1857290 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000820 name: Abnormality of the thyroid gland namespace: medical_genetics def: "An abnormality of the `thyroid gland` (FMA:9603)." [HPO:probinson] synonym: "Thyroid abnormality" EXACT [] synonym: "Thyroid disease" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0040128 xref: UMLS:C0040132 xref: UMLS:C0279175 xref: UMLS:C1278878 xref: UMLS:C1704258 xref: UMLS:C2186538 xref: UMLS:C2228489 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000821 name: Hypothyroidism namespace: medical_genetics alt_id: HP:0008203 synonym: "Hypothyroidism in subset of patients" EXACT [] xref: UMLS:C0020676 xref: UMLS:C0030705 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0000822 name: Hypertension namespace: medical_genetics alt_id: HP:0004949 alt_id: HP:0005126 def: "The presence of `chronic` (PATO:0001863) `increased pressure` (PATO:0001576) in the `systemic arterial system` (FMA:45623)." [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: "Systemic hypertension" EXACT [] xref: UMLS:C0020538 xref: UMLS:C1963138 is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0000823 name: Delayed puberty namespace: medical_genetics synonym: "Delalyed puberty" EXACT [] synonym: "Delayed pubertal development" EXACT [] xref: UMLS:C0034011 xref: UMLS:C0034012 xref: UMLS:C1838105 is_a: HP:0001510 ! Growth retardation is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000824 name: Growth hormone deficiency namespace: medical_genetics alt_id: HP:0008195 def: "Insufficient production of growth hormone, which is produced by the anterior pituitary gland." [HPO:curators] xref: UMLS:C0013338 xref: UMLS:C0271561 is_a: HP:0000844 ! Growth hormone and pituitary abnormality is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0000825 name: Hyperinsulinemic hypoglycemia namespace: medical_genetics def: "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)." [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:C1850545 xref: UMLS:C1864903 is_a: HP:0000842 ! Hyperinsulinemia [Term] id: HP:0000826 name: Precocious puberty namespace: medical_genetics 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:curators] xref: UMLS:C0034013 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000828 name: Abnormality of the parathyroid gland namespace: medical_genetics def: "An abnormality of the `parathyroid gland` (FMA:13890)." [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. xref: UMLS:C0000768 xref: UMLS:C0030518 xref: UMLS:C1704258 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000829 name: Hypoparathyroidism namespace: medical_genetics alt_id: HP:0000856 synonym: "Low parathyroid hormone" EXACT [] xref: UMLS:C0020626 xref: UMLS:C1384672 xref: UMLS:C1855649 is_a: HP:0000828 ! Abnormality of the parathyroid gland [Term] id: HP:0000830 name: Hypopituitarism namespace: medical_genetics def: "A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the eight pituitary hormones." [HPO:curators] xref: UMLS:C0020635 is_a: HP:0000838 ! Abnormality of the pituitary gland [Term] id: HP:0000831 name: Insulin-resistant diabetes mellitus namespace: medical_genetics synonym: "Insulin resistant diabetes" EXACT [] synonym: "Insulin resistant diabetes mellitus" EXACT [] synonym: "Insulin-resistant diabetes" EXACT [] xref: UMLS:C0743125 xref: UMLS:C0854110 is_a: HP:0000855 ! Insulin resistance [Term] id: HP:0000832 name: Primary hypothyroidism namespace: medical_genetics def: "A type of `hypothyroidism` (HP:0000821) that results from a defect in the `thyroid gland` (FMA:9603)." [HPO:probinson] xref: UMLS:C0700502 is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0000833 name: Glucose intolerance namespace: medical_genetics synonym: "Impaired glucose tolerance" EXACT [] xref: UMLS:C0159069 xref: UMLS:C0271650 is_a: HP:0001952 ! Abnormal glucose tolerance [Term] id: HP:0000834 name: Abnormality of the adrenal glands namespace: medical_genetics def: "Abnormality of the `adrenal glands` (FMA:9604), i.e., of the endocrine glands located at the top of the kindneys." [HPO:probinson] synonym: "Adrenal abnormalities" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0001625 xref: UMLS:C0521428 xref: UMLS:C1704258 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000835 name: Adrenal hypoplasia namespace: medical_genetics def: "Developmental hypoplasia of the `adrenal glands` (FMA:9604)." [HPO:probinson] synonym: "Adrenal gland hypoplasia" EXACT [] synonym: "Hypoplastic adrenal glands" EXACT [] synonym: "Small adrenal glands" EXACT [] xref: UMLS:C0220766 xref: UMLS:C0342491 xref: UMLS:C1840300 xref: UMLS:C1846223 xref: UMLS:C1868690 is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0000836 name: Hyperthyroidism namespace: medical_genetics def: "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)." [HPO:probinson] xref: UMLS:C0020550 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0000837 name: Elevated gonadotropins namespace: medical_genetics synonym: "Elevated serum gonadotropins" EXACT [] xref: UMLS:C0229671 xref: UMLS:C1550100 xref: UMLS:C1862265 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000838 name: Abnormality of the pituitary gland namespace: medical_genetics 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." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0032005 xref: UMLS:C1278880 xref: UMLS:C1704258 is_a: HP:0000844 ! Growth hormone and pituitary abnormality [Term] id: HP:0000839 name: Pituitary dwarfism namespace: medical_genetics 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:curators] xref: UMLS:C0013338 is_a: HP:0000838 ! Abnormality of the pituitary gland [Term] id: HP:0000840 name: Adrenogenital syndrome namespace: medical_genetics alt_id: HP:0001921 comment: 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. synonym: "Adrenal hyperplasia" EXACT [] xref: UMLS:C0302280 xref: UMLS:C1621895 is_a: HP:0004317 ! Decreased cortisol production is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000841 name: Hyperactive renin-angiotensin system namespace: medical_genetics xref: UMLS:C1846345 is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0000842 name: Hyperinsulinemia namespace: medical_genetics def: "An `increased concentration` (PATO:0001162) of `insulin` (PRO:000009054) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C0020459 is_a: HP:0003117 ! Abnormality of circulating hormone level is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0000843 name: Hyperparathyroidism namespace: medical_genetics xref: UMLS:C0020502 is_a: HP:0000828 ! Abnormality of the parathyroid gland [Term] id: HP:0000844 name: Growth hormone and pituitary abnormality namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0032005 xref: UMLS:C0037663 xref: UMLS:C0169964 xref: UMLS:C0304812 xref: UMLS:C1579308 xref: UMLS:C1579310 xref: UMLS:C1704258 is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis [Term] id: HP:0000845 name: Acromegaly namespace: medical_genetics 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." [HPO:curators] comment: Disorder resulting from excess pituitary gland production od growth hormone (hGH). xref: UMLS:C0001206 is_a: HP:0000838 ! Abnormality of the pituitary gland is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001507 ! Growth abnormality is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0000846 name: Adrenal insufficiency namespace: medical_genetics xref: UMLS:C0001623 xref: UMLS:C0405580 is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0000847 name: Abnormality of renin-angiotensin system namespace: medical_genetics alt_id: HP:0003350 def: "An abnormality of the `renin-angiotensin system` (FMA:74787)." [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 [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0002006 xref: UMLS:C0004457 xref: UMLS:C0035094 xref: UMLS:C0035096 xref: UMLS:C0035100 xref: UMLS:C0728839 xref: UMLS:C0999597 xref: UMLS:C1150116 xref: UMLS:C1321509 xref: UMLS:C1419338 xref: UMLS:C1522496 xref: UMLS:C1704258 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000848 name: Increased circulating renin level namespace: medical_genetics alt_id: HP:0003615 def: "An increased level of renin (PRO:000013883) in the `blood` (FMA:9670)." [HPO:probinson] synonym: "Elevated plasma renin" EXACT [] synonym: "Increased plasma renin" EXACT [] synonym: "Increased serum renin" EXACT [] xref: UMLS:C0240783 xref: UMLS:C1846346 xref: UMLS:C1864612 is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0000849 name: Adrenocortical abnormality namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1704258 is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0000850 name: Cushing syndrome namespace: medical_genetics xref: UMLS:C0010481 is_a: HP:0004316 ! Increased cortisol production [Term] id: HP:0000851 name: Congenital hypothyroidism namespace: medical_genetics def: "A type of `hypothyroidism` (HP:0000821) with `congenital onset` (HP:0003577)." [HPO:probinson] synonym: "Hypothyroidism, congenital" EXACT [] xref: UMLS:C0009678 xref: UMLS:C0010308 xref: UMLS:C0020676 xref: UMLS:C1744681 is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0000852 name: Pseudohypoparathyroidism namespace: medical_genetics xref: UMLS:C0033806 is_a: HP:0000828 ! Abnormality of the parathyroid gland [Term] id: HP:0000853 name: Goiter namespace: medical_genetics def: "An enlargement of the `thyroid gland` (FMA:9603)." [HPO:probinson] synonym: "Goitre" EXACT [] xref: UMLS:C0018021 is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0000854 name: Thyroid adenoma namespace: medical_genetics def: "The presence of a `adenoma` (MPATH:270) of the `thyroid gland` (FMA:9603)." [HPO:probinson] xref: UMLS:C0151468 is_a: HP:0100031 ! Neoplasm of the thyroid gland [Term] id: HP:0000855 name: Insulin resistance namespace: medical_genetics def: "`Increased resistance` (PATO:0001650) towards `insulin` (PRO:000009054)." [HPO:probinson] xref: UMLS:C0021655 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0000857 name: Neonatal insulin-dependent diabetes mellitus namespace: medical_genetics xref: UMLS:C0011854 xref: UMLS:C0021289 xref: UMLS:C1552240 xref: UMLS:C1552264 xref: UMLS:C1857290 is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000858 name: Menstrual irregularities namespace: medical_genetics synonym: "Menstrual irregularity" EXACT [] xref: UMLS:C0156404 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000859 name: Increased plasma aldosterone namespace: medical_genetics synonym: "Elevated plasma aldosterone" EXACT [] synonym: "Increased aldosterone" EXACT [] xref: UMLS:C0151475 xref: UMLS:C0857641 xref: UMLS:C1855850 is_a: HP:0002855 ! Abnormality of aldosterone production [Term] id: HP:0000860 name: Parathyroid hypoplasia namespace: medical_genetics def: "Developmental hypoplasia of the `parathyroid gland` (FMA:13890)." [HPO:probinson] xref: UMLS:C1389851 is_a: HP:0000828 ! Abnormality of the parathyroid gland [Term] id: HP:0000861 name: Isolated growth hormone deficiency namespace: medical_genetics xref: UMLS:C0271563 is_a: HP:0000824 ! Growth hormone deficiency [Term] id: HP:0000862 name: Addison disease namespace: medical_genetics comment: Deficiency of both glucocorticoids and mineralocorticoids. synonym: "Addison's disease" EXACT [] xref: UMLS:C0001403 xref: UMLS:C0162309 xref: UMLS:C1868690 is_a: HP:0000865 ! Hypoadrenalism is_a: HP:0002960 ! Autoimmunity created_by: peter creation_date: 2008-02-25T10:51:00Z [Term] id: HP:0000863 name: Central diabetes insipidus namespace: medical_genetics 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: UMLS:C0687720 is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis is_a: HP:0000873 ! Diabetes insipidus [Term] id: HP:0000864 name: Abnormality of the hypothalamus-pituitary axis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0678897 xref: UMLS:C1704258 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000865 name: Hypoadrenalism namespace: medical_genetics xref: UMLS:C0001623 is_a: HP:0004317 ! Decreased cortisol production is_a: HP:0004319 ! Decreased aldosterone production [Term] id: HP:0000866 name: Euthyroid multinodular goiter namespace: medical_genetics xref: UMLS:C1846034 is_a: HP:0005987 ! Multinodular goiter is_a: HP:0009798 ! Euthyroid goiter [Term] id: HP:0000867 name: Secondary hyperparathyroidism namespace: medical_genetics xref: UMLS:C0020503 is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0000868 name: Decreased fertility in females namespace: medical_genetics synonym: "Reduced fertility in females" EXACT [] xref: UMLS:C0015780 xref: UMLS:C0086287 xref: UMLS:C0520927 xref: UMLS:C1867795 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000869 name: Secondary amenorrhea namespace: medical_genetics xref: UMLS:C0232940 is_a: HP:0000141 ! Amenorrhea [Term] id: HP:0000870 name: Hyperprolactinemia namespace: medical_genetics 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." [HPO:curators] synonym: "Hyperprolactinaemia" EXACT [] xref: UMLS:C0020514 is_a: HP:0000838 ! Abnormality of the pituitary gland [Term] id: HP:0000871 name: Panhypopituitarism namespace: medical_genetics 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:curators] xref: UMLS:C0242343 xref: UMLS:C0342376 is_a: HP:0000830 ! Hypopituitarism [Term] id: HP:0000872 name: Hashimoto thyroiditis namespace: medical_genetics def: "A chronic, autoimmune type of `thyroiditis` (HP:0100646) associated with `hypothyroidism` (HP:0000821)." [HPO:probinson] synonym: "Chronic lymphocytic thyroiditis " EXACT [] xref: UMLS:C0677607 xref: UMLS:C0920350 is_a: HP:0002960 ! Autoimmunity is_a: HP:0100646 ! Thyroiditis [Term] id: HP:0000873 name: Diabetes insipidus namespace: medical_genetics 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: UMLS:C0011848 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000874 name: Glucocorticoid insufficiency namespace: medical_genetics xref: UMLS:C1846225 is_a: HP:0004317 ! Decreased cortisol production [Term] id: HP:0000875 name: Episodic hypertension namespace: medical_genetics xref: UMLS:C1857175 is_a: HP:0000822 ! Hypertension [Term] id: HP:0000876 name: Oligomenorrhea namespace: medical_genetics comment: Misspelled synonym added because word is misspelled in omim. synonym: "Oligomnenorrhea" EXACT [] xref: UMLS:C0028949 xref: UMLS:C2057730 is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000877 name: Insulin-resistant diabetes mellitus at puberty namespace: medical_genetics xref: UMLS:C0034011 xref: UMLS:C0743125 is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000878 name: 11 pairs of ribs namespace: medical_genetics xref: UMLS:C0035561 xref: UMLS:C1709450 is_a: HP:0000921 ! Missing ribs [Term] id: HP:0000879 name: Short sternum namespace: medical_genetics xref: UMLS:C0575497 is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0000882 name: Hypoplastic scapulae namespace: medical_genetics alt_id: HP:0006616 synonym: "Hypoplastic scapula" EXACT [] synonym: "Scapular hypoplasia" EXACT [] xref: UMLS:C1843669 xref: UMLS:C1854920 xref: UMLS:C1866996 is_a: HP:0000906 ! Short scapulae [Term] id: HP:0000883 name: Thin ribs namespace: medical_genetics synonym: "Slender ribs" EXACT [] xref: UMLS:C0426818 xref: UMLS:C1858034 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000884 name: Prominent sternum namespace: medical_genetics synonym: "Sternal protrusion" EXACT [] xref: UMLS:C1846152 xref: UMLS:C1846433 is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0000885 name: Broad ribs namespace: medical_genetics alt_id: HP:0000903 synonym: "Wide ribs" EXACT [] xref: UMLS:C0426820 xref: UMLS:C1848654 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000886 name: Deformed rib cage namespace: medical_genetics xref: UMLS:C1838659 is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0000887 name: Cupped ribs namespace: medical_genetics synonym: "Rib cupping" EXACT [] xref: UMLS:C0035561 xref: UMLS:C0394663 xref: UMLS:C1281577 xref: UMLS:C1865039 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000888 name: Short, horizontal ribs namespace: medical_genetics xref: UMLS:C0205126 xref: UMLS:C0426817 is_a: HP:0000773 ! Short ribs [Term] id: HP:0000889 name: Abnormality of the clavicles namespace: medical_genetics def: "Any abnormality of the clavicles (collar bones)." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0008913 xref: UMLS:C1704258 is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000890 name: Long clavicles namespace: medical_genetics synonym: "Elongated clavicles" EXACT [] xref: UMLS:C0426808 xref: UMLS:C1865123 is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0000891 name: Cervical ribs namespace: medical_genetics xref: UMLS:C0158779 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000892 name: Bifid ribs namespace: medical_genetics 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 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000893 name: 'Bulging' of the costochondral junction namespace: medical_genetics xref: UMLS:C0038999 xref: UMLS:C0224683 xref: UMLS:C1305095 is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0000894 name: Short clavicles namespace: medical_genetics xref: UMLS:C0426807 is_a: HP:0000898 ! Hypoplastic clavicles [Term] id: HP:0000895 name: Hooked clavicles namespace: medical_genetics synonym: "Hook-shaped clavicles" EXACT [] xref: UMLS:C0426805 xref: UMLS:C1849285 is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0000896 name: Rib exostoses namespace: medical_genetics xref: UMLS:C1835579 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000897 name: Rachitic rosary namespace: medical_genetics xref: UMLS:C0426824 is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0000898 name: Hypoplastic clavicles namespace: medical_genetics alt_id: HP:0005698 synonym: "Clavicular hypoplasia" EXACT [] synonym: "Underdeveloped clavicles" EXACT [] xref: UMLS:C0008913 xref: UMLS:C0426799 is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0000899 name: Short, thin ribs namespace: medical_genetics xref: UMLS:C0205168 xref: UMLS:C0426817 xref: UMLS:C0426818 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0000773 ! Short ribs is_a: HP:0000883 ! Thin ribs [Term] id: HP:0000900 name: Thickened ribs namespace: medical_genetics xref: UMLS:C1854820 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000902 name: Rib fusion namespace: medical_genetics alt_id: HP:0000880 synonym: "Fused ribs" EXACT [] xref: UMLS:C0265695 xref: UMLS:C1844749 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000904 name: Flaring of rib cage namespace: medical_genetics alt_id: HP:0006656 def: "The presence of wide, concave anterior rib ends." [HPO:curators] synonym: "Anterior flaring of ribs" EXACT [] xref: UMLS:C0035561 xref: UMLS:C0205094 xref: UMLS:C0222762 xref: UMLS:C1517205 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000905 name: Progressive acroosteolysis of the clavicle namespace: medical_genetics xref: UMLS:C0008913 xref: UMLS:C0205329 xref: UMLS:C0917990 xref: UMLS:C1279070 is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0000906 name: Short scapulae namespace: medical_genetics synonym: "Small scapula" EXACT [] synonym: "Small scapulae" EXACT [] xref: UMLS:C0575530 xref: UMLS:C1846434 is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae [Term] id: HP:0000907 name: Anterior rib cupping namespace: medical_genetics synonym: "Anterior cupping of ribs" EXACT [] xref: UMLS:C0035561 xref: UMLS:C0205094 xref: UMLS:C0394663 xref: UMLS:C1508663 is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000908 name: Hypoplastic ribs namespace: medical_genetics synonym: "Rib hypoplasia" EXACT [] xref: UMLS:C0685624 xref: UMLS:C1868159 is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000910 name: Wide-cupped costochondral junctions namespace: medical_genetics xref: UMLS:C1861213 is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0000911 name: Flat glenoid fossa namespace: medical_genetics xref: UMLS:C1855177 is_a: HP:0000782 ! Abnormality of the scapulae [Term] id: HP:0000912 name: Sprengel anomaly namespace: medical_genetics def: "A complex deformity characterized by congenital elevation of the scapula." [HPO:curators] 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. synonym: "Sprengel deformity" EXACT [] xref: UMLS:C0152438 xref: UMLS:C1860355 is_a: HP:0000782 ! Abnormality of the scapulae is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0000913 name: Posterior rib fusion namespace: medical_genetics xref: UMLS:C1842084 is_a: HP:0000902 ! Rib fusion [Term] id: HP:0000914 name: Shield chest namespace: medical_genetics xref: UMLS:C1834124 is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0000915 name: Pectus excavatum inferiorly namespace: medical_genetics def: "Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum." [HPO:curators] xref: UMLS:C1864796 is_a: HP:0000767 ! Pectus excavatum [Term] id: HP:0000916 name: Broad clavicles namespace: medical_genetics def: "Increased breadth of the clavicles." [HPO:curators] xref: UMLS:C0426801 is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0000917 name: Pectus carinatum superiorly namespace: medical_genetics def: "Pectus carinatum affecting primarily the superior part of the sternum." [HPO:curators] xref: UMLS:C1864795 is_a: HP:0000768 ! Pectus carinatum [Term] id: HP:0000918 name: Scapular exostoses namespace: medical_genetics synonym: "Scapulae exostoses" EXACT [] xref: UMLS:C1272459 xref: UMLS:C1851415 is_a: HP:0000782 ! Abnormality of the scapulae [Term] id: HP:0000919 name: Abnormalities of the costochondral junction namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0224683 xref: UMLS:C1305095 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000920 name: Enlargement of the costochondral junction namespace: medical_genetics 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:C0020564 xref: UMLS:C0224683 xref: UMLS:C0442800 xref: UMLS:C1293134 xref: UMLS:C1305095 xref: UMLS:C1849012 xref: UMLS:C1850082 xref: UMLS:C1857180 xref: UMLS:C1861322 is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0000921 name: Missing ribs namespace: medical_genetics alt_id: HP:0000881 alt_id: HP:0006627 synonym: "Absent ribs" EXACT [] synonym: "Decreased rib number" EXACT [] xref: UMLS:C0426816 xref: UMLS:C1406327 xref: UMLS:C1842697 is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000922 name: Posterior rib cupping namespace: medical_genetics xref: UMLS:C0035561 xref: UMLS:C0205095 xref: UMLS:C0394663 xref: UMLS:C1281577 is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000923 name: Beaded ribs namespace: medical_genetics 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 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000924 name: Abnormality of the musculoskeletal system namespace: medical_genetics def: "An abnormality of the musculoskeletal system including one or more abnormalities affecting bones, muscles, cartilage, tendons, ligaments, joints, and other connective tissue." [HPO:curators] synonym: "Skeletal abnormalities" EXACT [] synonym: "Skeletal anomalies" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0026860 xref: UMLS:C0037253 xref: UMLS:C0521324 xref: UMLS:C1269564 xref: UMLS:C1704258 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000925 name: Abnormality of the vertebral column namespace: medical_genetics def: "Any abnormality of the `vertebral column` (FMA:13478)." [HPO:probinson] synonym: "Abnormal vertebral bodies" EXACT [] synonym: "Abnormal vertebral column" EXACT [] synonym: "Vertebral abnormalities" EXACT [] synonym: "Vertebral anomalies" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0037949 xref: UMLS:C0205161 xref: UMLS:C0223084 xref: UMLS:C0265343 xref: UMLS:C1267072 xref: UMLS:C1704258 xref: UMLS:C1834129 xref: UMLS:C2347472 is_a: HP:0009121 ! Abnormality of the axial skeleton [Term] id: HP:0000926 name: Platyspondyly namespace: medical_genetics alt_id: HP:0004623 alt_id: HP:0004627 alt_id: HP:0005123 synonym: "Flat vertebral bodies" EXACT [] synonym: "flattened vertebrae" EXACT [] synonym: "flattened vertebral bodies" EXACT [] synonym: "marked platyspondyly" EXACT [] xref: UMLS:C0205324 xref: UMLS:C0223084 xref: UMLS:C0457933 xref: UMLS:C0522501 xref: UMLS:C1706089 xref: UMLS:C1836586 xref: UMLS:C1844704 xref: UMLS:C1865023 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0000927 name: Abnormality of skeletal maturation namespace: medical_genetics 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:curators] xref: UMLS:C0000768 xref: UMLS:C0037253 xref: UMLS:C0521324 xref: UMLS:C0870861 xref: UMLS:C1254042 xref: UMLS:C1704258 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0000929 name: Abnormality of the skull namespace: medical_genetics def: "An abnormality of the `skull` (FMA:46565), the bony framework of the head which is comprised of eight cranial and fourteen facial bones." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0037303 xref: UMLS:C1704258 is_a: HP:0000234 ! Abnormality of the head is_a: HP:0009121 ! Abnormality of the axial skeleton [Term] id: HP:0000930 name: Elevated imprint of the transverse sinuses namespace: medical_genetics xref: UMLS:C0205250 xref: UMLS:C0226864 xref: UMLS:C1699173 is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0000931 name: Thinning and bulging of the posterior fossa bones namespace: medical_genetics synonym: "Thinning and bulging of posterior fossa bones" EXACT [] xref: UMLS:C0038999 xref: UMLS:C0262950 xref: UMLS:C0332528 xref: UMLS:C0851184 xref: UMLS:C1116439 xref: UMLS:C1266909 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0000932 name: Abnormality of the posterior cranial fossa namespace: medical_genetics 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] synonym: "Abnormality of the posterior fossa" EXACT [] synonym: "Posterior fossa anomaly" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0010265 xref: UMLS:C0205314 xref: UMLS:C0871468 xref: UMLS:C1116439 xref: UMLS:C1305393 xref: UMLS:C1704257 xref: UMLS:C1704258 is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0000933 name: Posterior fossa cyst at the fourth ventricle namespace: medical_genetics xref: UMLS:C0149556 xref: UMLS:C1278832 xref: UMLS:C1857353 is_a: HP:0007109 ! Periventricular cysts is_a: HP:0007291 ! Posterior fossa cysts [Term] id: HP:0000934 name: Chondrocalcinosis namespace: medical_genetics 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: UMLS:C0553730 is_a: HP:0001367 ! Abnormality of the joints is_a: HP:0010766 ! Ectopic calcifications is_a: HP:0100685 ! Abnormality of Sharpey fibers [Term] id: HP:0000935 name: Thickened cortex of long bones namespace: medical_genetics 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 [] xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0205400 xref: UMLS:C0222647 xref: UMLS:C0332464 xref: UMLS:C1176472 xref: UMLS:C1282773 xref: UMLS:C1851611 is_a: HP:0100039 ! Thickened cortex of bones [Term] id: HP:0000938 name: Osteopenia namespace: medical_genetics alt_id: HP:0002768 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:curators] synonym: "Decreased bone mineral density" EXACT [] synonym: "Generalized osteopenia" EXACT [] xref: UMLS:C0029453 xref: UMLS:C0747078 xref: UMLS:C1968854 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000939 name: Osteoporosis namespace: medical_genetics 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: UMLS:C0029456 xref: UMLS:C1563292 xref: UMLS:C1850194 xref: UMLS:C1962963 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000940 name: Abnormality of the diaphyses namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0242696 xref: UMLS:C1704258 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0000941 name: Short diaphyses namespace: medical_genetics xref: UMLS:C0242696 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0000940 ! Abnormality of the diaphyses [Term] id: HP:0000942 name: Wide vertebral clefts namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C1855828 is_a: HP:0008428 ! Vertebral clefts [Term] id: HP:0000943 name: Dysostosis multiplex namespace: medical_genetics alt_id: HP:0002760 synonym: "Dyostosis multiplex" EXACT [] synonym: "Mild dysostosis multiplex" EXACT [] synonym: "Mild dysotosis multiplex" EXACT [] xref: UMLS:C0086795 xref: UMLS:C1854746 xref: UMLS:C1854823 xref: UMLS:C1854833 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0000944 name: Abnormality of the metaphyses namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0222671 xref: UMLS:C1704258 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0000945 name: Flared irregular metaphyses namespace: medical_genetics synonym: "Flared and irregular metaphyses" EXACT [] synonym: "Flared metaphyses" EXACT [] synonym: "Irregular, flared metaphyses" EXACT [] synonym: "Metaphyseal flaring and irregularity" EXACT [] xref: UMLS:C0205271 xref: UMLS:C0222671 xref: UMLS:C1517205 xref: UMLS:C1846448 xref: UMLS:C1846802 is_a: HP:0003015 ! Metaphyseal flaring [Term] id: HP:0000946 name: Hypoplastic ilia namespace: medical_genetics alt_id: HP:0003176 synonym: "Small iliac bones" EXACT [] xref: UMLS:C1832984 xref: UMLS:C1846800 is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0000947 name: Dumbbell-shaped long bones namespace: medical_genetics xref: UMLS:C0222647 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1282773 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0000950 name: Broad short ribs namespace: medical_genetics alt_id: HP:0006667 synonym: "Broad, slightly short ribs" EXACT [] synonym: "Wide short ribs" RELATED [] synonym: "Wide, slightly short ribs" RELATED [] xref: UMLS:C0332464 xref: UMLS:C0426817 xref: UMLS:C0426820 xref: UMLS:C0750482 xref: UMLS:C1806781 xref: UMLS:C1848654 xref: UMLS:C2350002 is_a: HP:0000773 ! Short ribs is_a: HP:0000885 ! Broad ribs [Term] id: HP:0000951 name: Abnormality of the skin namespace: medical_genetics alt_id: HP:0005591 def: "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] synonym: "dermatopathy" EXACT [HPO:SKOEHLER] synonym: "dermopathy" EXACT [HPO:SKOEHLER] synonym: "Skin abnormality" RELATED [] xref: UMLS:C0000768 xref: UMLS:C0037268 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C1704258 is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0000952 name: Jaundice namespace: medical_genetics 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: UMLS:C0022346 xref: UMLS:C2203646 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders is_a: HP:0001396 ! Cholestasis [Term] id: HP:0000953 name: Hyperpigmentation of the skin namespace: medical_genetics 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 [] xref: UMLS:C0162834 xref: UMLS:C1962962 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0000954 name: Transverse palmar creases namespace: medical_genetics alt_id: HP:0006214 def: "The presence of a single palmar crease (instead of the two palmar creases that are typically present)." [HPO:curators] synonym: "Bilateral simian creases" EXACT [] synonym: "Bilateral single transverse palmar creases" EXACT [] synonym: "Bilateral transverse palmar creases" EXACT [] 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 crease" EXACT [] synonym: "Single transverse palmar creases" EXACT [] synonym: "Transverse palmar crease" EXACT [] xref: UMLS:C0238767 xref: UMLS:C0424731 xref: UMLS:C1836208 xref: UMLS:C1842573 xref: UMLS:C1843696 xref: UMLS:C1861337 xref: UMLS:C1862095 xref: UMLS:C1865130 xref: UMLS:C1873502 is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0000955 name: Ichthyosis namespace: medical_genetics synonym: "Ichthyotic skin" EXACT [] xref: UMLS:C0020757 xref: UMLS:C0020758 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 is_a: HP:0001035 ! Abnormality of keratinization [Term] id: HP:0000956 name: Acanthosis nigricans namespace: medical_genetics subset: secondary_consequence xref: UMLS:C0000889 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0000957 name: Cafe-au-lait spots namespace: medical_genetics synonym: "Cafe au lait spots" EXACT [] xref: UMLS:C0221263 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0000958 name: Dry skin namespace: medical_genetics synonym: "Xerosis" EXACT [] xref: UMLS:C0151908 xref: UMLS:C0259817 xref: UMLS:C1963094 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0000960 name: Sacral dimple namespace: medical_genetics def: "A subtype of `skin dimples` (HP:0010781) presenting as an indentation in the skin of the intergluteal cleft ." [HPO:probinson] synonym: "Pilonidal dimple" EXACT [] xref: UMLS:C0426848 xref: UMLS:C1860153 is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality is_a: HP:0010781 ! Skin dimples [Term] id: HP:0000961 name: Cyanosis namespace: medical_genetics xref: UMLS:C0010520 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0000962 name: Hyperkeratosis namespace: medical_genetics 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:curators] xref: UMLS:C0870082 xref: UMLS:C1851844 is_a: HP:0001035 ! Abnormality of keratinization [Term] id: HP:0000963 name: Thin skin namespace: medical_genetics xref: UMLS:C0423757 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0000964 name: Eczema namespace: medical_genetics 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:curators] synonym: "Dermatitis" EXACT [] xref: UMLS:C0011603 xref: UMLS:C0013595 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0000965 name: Cutis marmorata namespace: medical_genetics 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] synonym: "Livedo reticularis" EXACT [] xref: UMLS:C0085642 xref: UMLS:C0263401 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0000966 name: Hypohidrosis namespace: medical_genetics alt_id: HP:0007551 def: "Abnormally diminished capacity to sweat." [HPO:curators] synonym: "Decreased ability to sweat" EXACT [] synonym: "Decreased sweating" EXACT [] synonym: "Oligohidrosis" EXACT [] xref: UMLS:C0020620 xref: UMLS:C0038984 xref: UMLS:C0038990 xref: UMLS:C0085732 xref: UMLS:C0205216 xref: UMLS:C0392756 is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0000967 name: Petechiae namespace: medical_genetics xref: UMLS:C0031256 is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000968 name: Ectodermal dysplasia namespace: medical_genetics xref: UMLS:C0013575 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0000969 name: Edema namespace: medical_genetics alt_id: HP:0000990 def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. 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." [HPO:curators] synonym: "Hydrops" EXACT [] synonym: "Oedema" EXACT [] xref: UMLS:C0013604 xref: UMLS:C1058427 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0011032 ! Abnormality of fluid regulation [Term] id: HP:0000970 name: Anhidrosis namespace: medical_genetics def: "Inability to sweat." [HPO:curators] xref: UMLS:C0003028 is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0000971 name: Abnormality of the sweat gland namespace: medical_genetics def: "An abnormality of the `sweat gland` (FMA:59152)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0038989 xref: UMLS:C1704258 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0000972 name: Palmoplantar hyperkeratosis namespace: medical_genetics def: "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand and the sole of the foot." [HPO:probinson] 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:C0022596 xref: UMLS:C0230463 xref: UMLS:C0682477 xref: UMLS:C0870082 xref: UMLS:C1280412 xref: UMLS:C1848398 xref: UMLS:C1857046 is_a: HP:0007556 ! Plantar hyperkeratosis is_a: HP:0010765 ! Palmar hyperkeratosis [Term] id: HP:0000973 name: Cutis laxa namespace: medical_genetics synonym: "Lax skin" EXACT [] synonym: "Loose skin" EXACT [] synonym: "Skin laxity" EXACT [] xref: UMLS:C0010495 is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0000974 name: Hyperextensible skin namespace: medical_genetics alt_id: HP:0007389 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. synonym: "Hyperelastic skin" EXACT [] synonym: "Skin hyperelasticity" EXACT [] synonym: "Skin hyperextensibility" EXACT [] synonym: "Stretchable skin" EXACT [] xref: UMLS:C0241074 xref: UMLS:C0558242 xref: UMLS:C1844593 xref: UMLS:C1857036 xref: UMLS:C1866955 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0000975 name: Hyperhidrosis namespace: medical_genetics def: "An abnormally increased perspiration." [HPO:probinson] synonym: "Sweating" EXACT [] xref: UMLS:C0020458 xref: UMLS:C0038990 is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0000976 name: Eczematoid dermatitis namespace: medical_genetics xref: UMLS:C0013595 is_a: HP:0000964 ! Eczema [Term] id: HP:0000977 name: Soft skin namespace: medical_genetics synonym: "Velvety skin" RELATED [] xref: UMLS:C0241178 xref: UMLS:C1844592 is_a: HP:0010647 ! Abnormality of skin texture [Term] id: HP:0000978 name: Ecchymoses namespace: medical_genetics alt_id: HP:0000959 synonym: "Bruisability" EXACT [] synonym: "Easy bruisability" EXACT [] synonym: "Easy bruising" EXACT [] xref: UMLS:C0009938 xref: UMLS:C0013491 xref: UMLS:C0423798 xref: UMLS:C2136686 is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000979 name: Purpura namespace: medical_genetics xref: UMLS:C0034150 is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000980 name: Pallor namespace: medical_genetics def: "Abnormally `pale` (PATO:0000328) `skin` (FMA:7163)." [HPO:probinson] xref: UMLS:C0030232 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0000981 name: Discoid lupus in carriers or adults with mild disease namespace: medical_genetics xref: UMLS:C0001675 xref: UMLS:C0012634 xref: UMLS:C0024138 xref: UMLS:C0547040 xref: UMLS:C1742737 is_a: HP:0007417 ! Discoid lupus erythematosus [Term] id: HP:0000982 name: Palmoplantar keratoderma namespace: medical_genetics synonym: "Palmar and plantar keratoderma" EXACT [] xref: UMLS:C0022579 xref: UMLS:C0022596 xref: UMLS:C0442036 xref: UMLS:C1184147 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0000983 name: Dermatitis, infectious, due to immunodeficiency impetigo namespace: medical_genetics xref: UMLS:C0011603 xref: UMLS:C0021051 xref: UMLS:C0021099 xref: UMLS:C0021311 xref: UMLS:C2364133 is_a: HP:0000964 ! Eczema [Term] id: HP:0000984 name: Fair skin namespace: medical_genetics xref: UMLS:C1858570 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0000986 name: Neonatal jaundice namespace: medical_genetics subset: secondary_consequence xref: UMLS:C0022353 xref: UMLS:C2046390 is_a: HP:0000952 ! Jaundice [Term] id: HP:0000987 name: Atypical scarring namespace: medical_genetics xref: UMLS:C0008767 xref: UMLS:C2004491 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0000988 name: Skin rash namespace: medical_genetics xref: UMLS:C0015230 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0000989 name: Pruritus namespace: medical_genetics 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:curators] xref: UMLS:C0033774 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0000991 name: Xanthomatosis namespace: medical_genetics 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: UMLS:C0043325 xref: UMLS:C0302314 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0000992 name: Photosensitivity namespace: medical_genetics 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:curators] synonym: "Cutaneous photosensitivity" EXACT [] synonym: "Photosensitive skin" EXACT [] synonym: "Photosensitive skin rashes" EXACT [] synonym: "Skin photosensitivity" EXACT [] synonym: "Sun sensitivity" EXACT [] xref: UMLS:C0349506 xref: UMLS:C1852695 xref: UMLS:C1863206 xref: UMLS:C2362621 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0000993 name: Molluscoid pseudotumors namespace: medical_genetics synonym: "Molluscoid pseudotumor" EXACT [] xref: UMLS:C1844597 xref: UMLS:C1856713 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0000995 name: Pigmented nevi namespace: medical_genetics def: "The presence of increased numbers of pigmented nevi, that is, of small, dark spots on the skin. Pigmented nevi are also known as melanocytic nevi or moles." [HPO:curators] synonym: "Melanocytic nevi" EXACT [] synonym: "Nevocellular nevi" EXACT [] synonym: "Pigmented naevi" EXACT [] xref: UMLS:C0027960 xref: UMLS:C0027962 is_a: HP:0001000 ! Abnormality of skin pigmentation is_a: HP:0003764 ! Abnormal or excess nevi [Term] id: HP:0000996 name: Facial capillary hemangioma namespace: medical_genetics xref: UMLS:C1858545 is_a: HP:0000329 ! Facial hemangioma is_a: HP:0005306 ! Capillary hemangiomas [Term] id: HP:0000997 name: Axillary freckling namespace: medical_genetics xref: UMLS:C1860335 is_a: HP:0001480 ! Freckling [Term] id: HP:0000998 name: Hypertrichosis namespace: medical_genetics def: "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] xref: UMLS:C0020555 is_a: HP:0010720 ! Abnormal hair growth pattern [Term] id: HP:0000999 name: Pyoderma namespace: medical_genetics xref: UMLS:C0034212 is_a: HP:0002727 ! Abnormal tendency to infections of the skin [Term] id: HP:0001000 name: Abnormality of skin pigmentation namespace: medical_genetics alt_id: HP:0007582 def: "An abnormality of the `pigmentation` (GO:0043473) of the `skin` (FMA:7163)." [HPO:probinson] synonym: "Abnormal pigmentation" EXACT [] synonym: "Pigmentary changes" EXACT [] synonym: "Pigmentary skin changes" EXACT [] synonym: "Pigmentation" EXACT [] synonym: "Pigmentation anomaly" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0031911 xref: UMLS:C0031916 xref: UMLS:C0037290 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1260926 xref: UMLS:C1269684 xref: UMLS:C1278993 xref: UMLS:C1704257 xref: UMLS:C1704258 xref: UMLS:C1705241 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0200045 ! Abnormality of pigmentation [Term] id: HP:0001001 name: Abnormality of subcutaneous fat tissue namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0222331 xref: UMLS:C1704258 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0009124 ! Abnormality of adipose tissue [Term] id: HP:0001002 name: Decreased subcutaneous fat namespace: medical_genetics synonym: "Little subcutaneous fat" EXACT [] synonym: "Sparse subcutaneous fat" EXACT [] synonym: "Subcutaneous fat loss" EXACT [] xref: UMLS:C0222331 xref: UMLS:C1517945 xref: UMLS:C1835128 xref: UMLS:C1865700 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0001003 name: Multiple lentigines namespace: medical_genetics 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. xref: UMLS:C1328931 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001004 name: Lymphedema namespace: medical_genetics xref: UMLS:C0024236 is_a: HP:0000969 ! Edema [Term] id: HP:0001005 name: Dermatological manifestations of systemic disorders namespace: medical_genetics subset: secondary_consequence xref: UMLS:C0012634 xref: UMLS:C0205319 xref: UMLS:C0205373 xref: UMLS:C2064808 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001006 name: Hypotrichosis namespace: medical_genetics def: "Reduced or lacking hair growth." [HPO:curators] comment: A less than normal amount of hair on the head or body. xref: UMLS:C0020678 is_a: HP:0002115 ! Sparse or absent hair is_a: HP:0010720 ! Abnormal hair growth pattern [Term] id: HP:0001007 name: Hirsutism namespace: medical_genetics def: "Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair)." [HPO:sdoelken] xref: UMLS:C0019572 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0001008 name: Accumulation of melanosomes in melanocytes namespace: medical_genetics xref: UMLS:C0025201 xref: UMLS:C0025213 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001009 name: Telangiectasia namespace: medical_genetics 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:curators] synonym: "Cutaneous telangiectasia" EXACT [] synonym: "Telangiectases" EXACT [] xref: UMLS:C0039446 xref: UMLS:C1859637 xref: UMLS:C1963248 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001010 name: Hypopigmentation of the skin namespace: medical_genetics alt_id: HP:0007604 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: UMLS:C0162835 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C1876214 xref: UMLS:C1963139 is_a: HP:0001000 ! Abnormality of skin pigmentation is_a: HP:0001022 ! Albinism [Term] id: HP:0001011 name: Diaphoresis (with pheochromocytoma) namespace: medical_genetics subset: secondary_consequence xref: UMLS:C0031511 xref: UMLS:C0038990 xref: UMLS:C0700590 xref: UMLS:C1706920 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001012 name: Lipomas namespace: medical_genetics 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: "Lipoma" EXACT [] xref: UMLS:C0023798 is_a: HP:0200013 ! Neoplasia of fatty tissue [Term] id: HP:0001013 name: Eruptive xanthomas namespace: medical_genetics xref: UMLS:C0221252 is_a: HP:0001012 ! Lipomas [Term] id: HP:0001014 name: Angiokeratoma namespace: medical_genetics synonym: "Angiokeratomas" EXACT [] xref: UMLS:C0002985 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001015 name: Prominent superficial veins namespace: medical_genetics xref: UMLS:C1837785 is_a: HP:0002624 ! Venous abnormalities is_a: HP:0007394 ! Prominent superficial blood vessels [Term] id: HP:0001016 name: Excessive wrinkled skin (palms and soles) namespace: medical_genetics 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 [] xref: UMLS:C0016504 xref: UMLS:C0018563 xref: UMLS:C0037301 xref: UMLS:C0205217 xref: UMLS:C0230463 xref: UMLS:C0347981 xref: UMLS:C0442802 xref: UMLS:C0442805 xref: UMLS:C0682477 xref: UMLS:C1399774 xref: UMLS:C1883564 is_a: HP:0000973 ! Cutis laxa is_a: HP:0007605 ! Excessive wrinkling of palmar skin [Term] id: HP:0001017 name: Anemic pallor namespace: medical_genetics def: "A type of `pallor` (HP:0000980) that is secondary to the presence of `anemia` (HP:0001903)." [HPO:probinson] xref: UMLS:C0030232 xref: UMLS:C0857322 is_a: HP:0000980 ! Pallor [Term] id: HP:0001018 name: Abnormal palmar dermatoglyphics namespace: medical_genetics def: "An abnormality of the dermatoglyphs of the palms." [HPO:curators] xref: UMLS:C0011624 xref: UMLS:C0205161 xref: UMLS:C1184147 xref: UMLS:C2347472 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0007477 ! Abnormal dermatoglyphics [Term] id: HP:0001019 name: Erythroderma namespace: medical_genetics 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:C0011606 xref: UMLS:C1863723 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001020 name: Soft, thin skin namespace: medical_genetics xref: UMLS:C1864982 is_a: HP:0000963 ! Thin skin is_a: HP:0000977 ! Soft skin [Term] id: HP:0001021 name: Nonbullous congenital ichthyosis namespace: medical_genetics 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: "Ichthyosis lammellaris" EXACT [] xref: UMLS:C0079154 is_a: HP:0000955 ! Ichthyosis [Term] id: HP:0001022 name: Albinism namespace: medical_genetics xref: UMLS:C0001916 is_a: HP:0200045 ! Abnormality of pigmentation [Term] id: HP:0001024 name: Skin dimple over apex of long bone angulation namespace: medical_genetics xref: UMLS:C0222647 xref: UMLS:C0333179 xref: UMLS:C0578531 xref: UMLS:C1282773 xref: UMLS:C1522410 is_a: HP:0010781 ! Skin dimples [Term] id: HP:0001025 name: Urticaria namespace: medical_genetics xref: UMLS:C0042109 xref: UMLS:C2186740 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001026 name: Penetrating foot ulcers namespace: medical_genetics xref: UMLS:C0085119 xref: UMLS:C0205321 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001027 name: Soft, doughy skin namespace: medical_genetics xref: UMLS:C1844592 is_a: HP:0000977 ! Soft skin [Term] id: HP:0001028 name: Hemangiomas namespace: medical_genetics alt_id: HP:0007444 def: "The presence of multiple hemangiomas. 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:curators] synonym: "Hemangioma" EXACT [] synonym: "Hemangiomata, especially thorax and upper abdomen" EXACT [] xref: UMLS:C0018916 xref: UMLS:C0205555 xref: UMLS:C0230165 xref: UMLS:C0817096 xref: UMLS:C1269614 xref: UMLS:C1456858 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0004377 ! Hematological neoplasia [Term] id: HP:0001029 name: Poikiloderma namespace: medical_genetics 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. xref: UMLS:C0392777 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001030 name: Fragile skin namespace: medical_genetics synonym: "Skin fragility" EXACT [] xref: UMLS:C0241181 xref: UMLS:C0549419 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001031 name: Subcutaneous lipoma namespace: medical_genetics def: "The presence of subcutaneous `lipoma` (MPATH:417)." [HPO:probinson] xref: UMLS:C1403035 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue is_a: HP:0001012 ! Lipomas is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0001032 name: Aplasia of the distal interphalangeal creases namespace: medical_genetics def: "Absence of the distal interphalangeal flexion creases of the fingers." [HPO:curators] synonym: "Absence of skin creases over distal interphalangeal joints" EXACT [] synonym: "Absent distal interphalangeal creases" RELATED [] synonym: "Distal finger flexion creases absent" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205108 xref: UMLS:C0231452 xref: UMLS:C0243065 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0459397 xref: UMLS:C0851278 xref: UMLS:C0932510 xref: UMLS:C1281584 xref: UMLS:C1689985 xref: UMLS:C1861349 xref: UMLS:C2107118 is_a: HP:0006031 ! Aplasia/Hypoplastia of the interphalangeal creases [Term] id: HP:0001033 name: Facial flushing after alcohol intake namespace: medical_genetics subset: secondary_consequence xref: UMLS:C0001948 xref: UMLS:C0016382 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001034 name: Hyperpigmented macules namespace: medical_genetics synonym: "Hyperpigmented spots" EXACT [] xref: UMLS:C0333615 xref: UMLS:C0848332 xref: UMLS:C1842774 is_a: HP:0000953 ! Hyperpigmentation of the skin is_a: HP:0200031 ! macules [Term] id: HP:0001035 name: Abnormality of keratinization namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0022566 xref: UMLS:C1704258 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001036 name: Parakeratosis namespace: medical_genetics comment: Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. It is normal in the epithelium of the true mucous membrane of the mouth and vagina. xref: UMLS:C0030436 is_a: HP:0001035 ! Abnormality of keratinization [Term] id: HP:0001038 name: Warfarin-induced skin necrosis namespace: medical_genetics subset: secondary_consequence xref: UMLS:C0043031 xref: UMLS:C0151799 xref: UMLS:C0205263 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1274981 xref: UMLS:C1278993 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001039 name: Atheroeruptive xanthoma namespace: medical_genetics xref: UMLS:C0302314 is_a: HP:0000991 ! Xanthomatosis [Term] id: HP:0001040 name: Multiple pterygia namespace: medical_genetics xref: UMLS:C1867448 is_a: HP:0001059 ! Pterygia [Term] id: HP:0001041 name: Facial erythema namespace: medical_genetics xref: UMLS:C0239488 is_a: HP:0010783 ! Erythema [Term] id: HP:0001042 name: High axial triradius namespace: medical_genetics xref: UMLS:C0205131 xref: UMLS:C0205250 xref: UMLS:C1299351 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0001043 name: Prominent scalp veins namespace: medical_genetics xref: UMLS:C1856542 is_a: HP:0001015 ! Prominent superficial veins [Term] id: HP:0001044 name: Congenital partial albinism (leucoderma) on face, trunk, or limbs namespace: medical_genetics synonym: "Congenital partial albinism on face, trunk, or limbs" EXACT [] xref: UMLS:C0009678 xref: UMLS:C0015385 xref: UMLS:C0015450 xref: UMLS:C0080024 xref: UMLS:C0162835 xref: UMLS:C0460005 xref: UMLS:C1280632 xref: UMLS:C1281591 xref: UMLS:C1744681 xref: UMLS:C1876214 is_a: HP:0001022 ! Albinism [Term] id: HP:0001045 name: Vitiligo namespace: medical_genetics xref: UMLS:C0042900 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001046 name: Intermittent jaundice namespace: medical_genetics def: "Jaundice that is sometimes present, sometimes not." [HPO:curators] subset: secondary_consequence xref: UMLS:C0022346 xref: UMLS:C0205267 xref: UMLS:C2203646 is_a: HP:0000952 ! Jaundice [Term] id: HP:0001047 name: Atopic dermatitis namespace: medical_genetics xref: UMLS:C0011615 is_a: HP:0000964 ! Eczema [Term] id: HP:0001048 name: Cavernous hemangioma namespace: medical_genetics def: "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [HPO:curators] synonym: "Cavernous haemangioma" EXACT [] xref: UMLS:C0018920 is_a: HP:0001028 ! Hemangiomas [Term] id: HP:0001049 name: Absent dorsal skin creases over affected joints namespace: medical_genetics xref: UMLS:C0022417 xref: UMLS:C0205095 xref: UMLS:C0332197 xref: UMLS:C0392760 xref: UMLS:C0392905 xref: UMLS:C0459397 xref: UMLS:C1314939 is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0001050 name: Plethora namespace: medical_genetics comment: Related to polycythemia. xref: UMLS:C0232370 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001051 name: Seborrheic dermatitis namespace: medical_genetics 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: "Seborrhea" EXACT [] synonym: "Seborrheic eczema" EXACT [] xref: UMLS:C0036508 is_a: HP:0000964 ! Eczema [Term] id: HP:0001052 name: Nevus flammeus namespace: medical_genetics 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] synonym: "port-wine stain" EXACT [HPO:SKOEHLER] xref: UMLS:C0235752 is_a: HP:0003764 ! Abnormal or excess nevi [Term] id: HP:0001053 name: Hypopigmented skin patches namespace: medical_genetics xref: UMLS:C0162835 xref: UMLS:C0994894 is_a: HP:0001010 ! Hypopigmentation of the skin is_a: HP:0200033 ! patches [Term] id: HP:0001054 name: Numerous nevi namespace: medical_genetics synonym: "Multiple pigmented nevi" EXACT [] xref: UMLS:C1836894 xref: UMLS:C1849677 is_a: HP:0003764 ! Abnormal or excess nevi [Term] id: HP:0001055 name: Erysipelas namespace: medical_genetics xref: UMLS:C0014733 is_a: HP:0002727 ! Abnormal tendency to infections of the skin [Term] id: HP:0001056 name: Milia namespace: medical_genetics 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. xref: UMLS:C0345996 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001057 name: Aplasia cutis congenita namespace: medical_genetics 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:curators] xref: UMLS:C0282160 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0001058 name: Poor wound healing namespace: medical_genetics xref: UMLS:C1851789 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001059 name: Pterygia namespace: medical_genetics def: "Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [HPO:curators] xref: UMLS:C0033998 xref: UMLS:C0033999 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001060 name: Axillary pterygia namespace: medical_genetics xref: UMLS:C1844738 is_a: HP:0001059 ! Pterygia [Term] id: HP:0001061 name: Acne namespace: medical_genetics xref: UMLS:C0001144 xref: UMLS:C0702166 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001062 name: Atypical nevi (>5mm with irregular edge and pigmentation) namespace: medical_genetics xref: UMLS:C0031911 xref: UMLS:C0205154 xref: UMLS:C0205271 xref: UMLS:C0205748 is_a: HP:0003764 ! Abnormal or excess nevi [Term] id: HP:0001063 name: Acrocyanosis namespace: medical_genetics xref: UMLS:C0221347 is_a: HP:0000961 ! Cyanosis [Term] id: HP:0001064 name: Diaphoresis namespace: medical_genetics alt_id: HP:0007424 def: "Abnormal excessive sweating." [HPO:curators] synonym: "Increased sweating" EXACT [] xref: UMLS:C0038990 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C0700590 is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0001065 name: Striae distensae namespace: medical_genetics alt_id: HP:0001023 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:curators] synonym: "Stretch marks" RELATED [] synonym: "Striae" EXACT [] synonym: "striae atrophicae" EXACT [] synonym: "Striae cutis distensae" EXACT [] xref: UMLS:C0011646 xref: UMLS:C0152459 xref: UMLS:C0344310 xref: UMLS:C0444099 xref: UMLS:C1963160 is_a: HP:0004334 ! Dermal atrophy is_a: HP:0100679 ! Lack of skin elasticity [Term] id: HP:0001066 name: Purplish striae namespace: medical_genetics xref: UMLS:C0152459 xref: UMLS:C0439542 xref: UMLS:C1963160 is_a: HP:0001065 ! Striae distensae [Term] id: HP:0001067 name: Neurofibromas namespace: medical_genetics alt_id: HP:0006746 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 xref: UMLS:C0027831 xref: UMLS:C0162678 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0010614 ! Fibroma is_a: HP:0100007 ! Neoplasia of the peripheral nervous system [Term] id: HP:0001068 name: Ruddy face and neck namespace: medical_genetics xref: UMLS:C0015450 xref: UMLS:C0027530 xref: UMLS:C0328248 xref: UMLS:C1281591 xref: UMLS:C1281592 is_a: HP:0001041 ! Facial erythema [Term] id: HP:0001069 name: Hyperhidrosis, episodic namespace: medical_genetics xref: UMLS:C0020458 xref: UMLS:C1455761 is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0001070 name: Mottled pigmentation namespace: medical_genetics xref: UMLS:C0860439 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001071 name: Angiokeratoma corporis diffusum namespace: medical_genetics xref: UMLS:C0002986 is_a: HP:0001014 ! Angiokeratoma [Term] id: HP:0001072 name: Thickened skin namespace: medical_genetics def: "Laminary thickening of skin." [HPO:sdoelken] synonym: "Pachydermia" EXACT [] xref: UMLS:C0241165 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001073 name: Cigarette-paper scars namespace: medical_genetics synonym: "'cigarette paper scarring'" EXACT [] synonym: "Cigarette paper scarring" EXACT [] xref: UMLS:C0030351 xref: UMLS:C0677453 xref: UMLS:C1547566 xref: UMLS:C1704760 xref: UMLS:C1851828 xref: UMLS:C2004491 is_a: HP:0001075 ! Atrophic scars [Term] id: HP:0001074 name: Atypical nevi often present in non-sun exposed areas namespace: medical_genetics xref: UMLS:C0038817 xref: UMLS:C0150312 xref: UMLS:C0205748 xref: UMLS:C0332157 xref: UMLS:C0332183 xref: UMLS:C0376223 xref: UMLS:C0449450 xref: UMLS:C1412877 xref: UMLS:C1504310 xref: UMLS:C1518422 is_a: HP:0003764 ! Abnormal or excess nevi [Term] id: HP:0001075 name: Atrophic scars namespace: medical_genetics xref: UMLS:C0162154 is_a: HP:0000987 ! Atypical scarring is_a: HP:0004334 ! Dermal atrophy [Term] id: HP:0001076 name: Glabellar hemangioma namespace: medical_genetics synonym: "Glabellar capillary hemangioma" EXACT [] xref: UMLS:C1854408 xref: UMLS:C1857261 is_a: HP:0001028 ! Hemangiomas [Term] id: HP:0001080 name: Biliary tract abnormality namespace: medical_genetics def: "An abnormality of the `biliary tree` (FMA:14665)." [HPO:probinson] xref: UMLS:C0549613 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0001081 name: Cholelithiasis namespace: medical_genetics def: "Hard, pebble-like deposits that form within the `gallbladder` (FMA:7202)." [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: UMLS:C0008350 xref: UMLS:C0242216 xref: UMLS:C0947622 is_a: HP:0005264 ! Abnormality of the gallbladder [Term] id: HP:0001082 name: Cholecystitis namespace: medical_genetics def: "The presence of `inflammatory` (PATO:0002104) changes in the `gallbladder` (FMA:7202)." [HPO:probinson] xref: UMLS:C0008325 xref: UMLS:C1963083 is_a: HP:0005264 ! Abnormality of the gallbladder [Term] id: HP:0001083 name: Ectopia lentis namespace: medical_genetics xref: UMLS:C0013581 is_a: HP:0000665 ! Lens dislocation [Term] id: HP:0001084 name: Corneal arcus namespace: medical_genetics 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: "Arcus lipoidis" EXACT [] synonym: "Arcus senilis" EXACT [] synonym: "Corneal annulus" EXACT [] synonym: "Gerontoxon" EXACT [] xref: UMLS:C0003742 xref: UMLS:C0010031 xref: UMLS:C2262860 is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0001085 name: Papilledema namespace: medical_genetics def: "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [HPO:curators] xref: UMLS:C0030353 xref: UMLS:C0155288 is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001086 name: Leber optic atrophy features namespace: medical_genetics xref: UMLS:C0917796 xref: UMLS:C1521970 xref: UMLS:C1706388 xref: UMLS:C2346469 xref: UMLS:C2348519 is_a: HP:0001112 ! Leber optic atrophy [Term] id: HP:0001087 name: Congenital glaucoma namespace: medical_genetics xref: UMLS:C0020302 is_a: HP:0000501 ! Glaucoma [Term] id: HP:0001088 name: Brushfield spots namespace: medical_genetics 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). synonym: "Iris brushfield spots" EXACT [] xref: UMLS:C1303007 xref: UMLS:C1860793 is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0001089 name: Iris atrophy namespace: medical_genetics def: "Atrophy of the `iris` (FMA:58235)." [HPO:probinson] xref: UMLS:C0423319 is_a: HP:0000525 ! Abnormality of the iris [Term] id: HP:0001090 name: Large eyes namespace: medical_genetics xref: UMLS:C1855852 is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0001091 name: Central visual loss namespace: medical_genetics xref: UMLS:C0042798 xref: UMLS:C0205099 xref: UMLS:C1879652 is_a: HP:0001090 ! Large eyes [Term] id: HP:0001092 name: Absent lacrimal puncta namespace: medical_genetics synonym: "Absent lacrimal gland puncta" EXACT [] synonym: "Absent lacrimal openings" EXACT [] synonym: "Lacrimal puncta aplasia" EXACT [] xref: UMLS:C1851881 xref: UMLS:C1855693 xref: UMLS:C1968573 xref: UMLS:C1969310 is_a: HP:0000614 ! Abnormality of the lacrimal duct [Term] id: HP:0001093 name: Optic nerve dysplasia namespace: medical_genetics def: "The presence of `developmental dysplasia` (MPATH:64) of the `optic nerve` (FMA:50863)." [HPO:probinson] xref: UMLS:C0027740 xref: UMLS:C0029130 xref: UMLS:C0334044 xref: UMLS:C1268985 xref: UMLS:C1280541 xref: UMLS:C1855042 is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001094 name: Iridocyclitis namespace: medical_genetics xref: UMLS:C0022073 is_a: HP:0000620 ! Dacrocystitis [Term] id: HP:0001095 name: Hypertensive retinopathy namespace: medical_genetics subset: secondary_consequence xref: UMLS:C0152132 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001096 name: Keratoconjunctivitis namespace: medical_genetics def: "Inflammation of the cornea and conjunctiva." [HPO:curators] xref: UMLS:C0022573 is_a: HP:0000491 ! Keratitis is_a: HP:0000509 ! Conjunctivitis [Term] id: HP:0001097 name: Keratoconjunctivitis sicca namespace: medical_genetics 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:curators] xref: UMLS:C0022575 xref: UMLS:C0553844 is_a: HP:0001096 ! Keratoconjunctivitis [Term] id: HP:0001098 name: Abnormality of the fundus namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0016823 xref: UMLS:C0017129 xref: UMLS:C0227254 xref: UMLS:C0227817 xref: UMLS:C0740422 xref: UMLS:C1704258 is_a: HP:0004329 ! Abnormality of the posterior segment of the eye [Term] id: HP:0001099 name: Fundus atrophy namespace: medical_genetics xref: UMLS:C0016823 xref: UMLS:C0017129 xref: UMLS:C0227254 xref: UMLS:C0227817 xref: UMLS:C0333641 xref: UMLS:C0740422 is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0001100 name: Heterochromia iridis namespace: medical_genetics def: "Heterochromia iridis is a difference in the color of the `iris` (FMA:58235) in the two eyes." [HPO:probinson] synonym: "Heterochromia irides" EXACT [] xref: UMLS:C0423318 is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0001101 name: Iritis namespace: medical_genetics def: "Inflammation of the `iris` (FMA:58235)." [HPO:probinson] xref: UMLS:C0022081 is_a: HP:0000525 ! Abnormality of the iris [Term] id: HP:0001102 name: Angioid streaks namespace: medical_genetics synonym: "Angioid streaks of the retina" EXACT [] synonym: "Angioid streaks, retina" EXACT [] xref: UMLS:C0002982 xref: UMLS:C0035298 xref: UMLS:C1278894 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001103 name: Abnormality of the macula namespace: medical_genetics synonym: "Macular abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0227662 xref: UMLS:C0332573 xref: UMLS:C0450295 xref: UMLS:C0730362 xref: UMLS:C1704258 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001104 name: Macular hypoplasia namespace: medical_genetics xref: UMLS:C1849412 is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula [Term] id: HP:0001105 name: Retinal atrophy namespace: medical_genetics xref: UMLS:C0521694 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001106 name: Periorbital hyperpigmentation namespace: medical_genetics xref: UMLS:C1844606 is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001107 name: Ocular albinism namespace: medical_genetics def: "An abnormal reduction in the amount of pigmentation of the `iris` (FMA:58235) 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. xref: UMLS:C0078917 is_a: HP:0001022 ! Albinism is_a: HP:0001098 ! Abnormality of the fundus is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0001109 name: Globe retraction and deviation on adduction namespace: medical_genetics xref: UMLS:C0012727 xref: UMLS:C0015392 xref: UMLS:C0205419 xref: UMLS:C0231457 xref: UMLS:C0332523 xref: UMLS:C1280202 xref: UMLS:C1705236 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0001110 name: Progressive myopia namespace: medical_genetics alt_id: HP:0007847 synonym: "Severe degenerative myopia" EXACT [] xref: UMLS:C0011164 xref: UMLS:C0154778 xref: UMLS:C0205082 xref: UMLS:C0271183 xref: UMLS:C1449744 xref: UMLS:C1519275 xref: UMLS:C1880269 is_a: HP:0000545 ! Myopia [Term] id: HP:0001111 name: Retinal depigmentation namespace: medical_genetics xref: UMLS:C0151891 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0001112 name: Leber optic atrophy namespace: medical_genetics comment: Degerenation of retinal ganglion cells and their axons. xref: UMLS:C0917796 is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001113 name: Early cataracts namespace: medical_genetics xref: UMLS:C1835120 is_obsolete: true [Term] id: HP:0001114 name: Xanthelasma namespace: medical_genetics def: "The presence of xanthomata in the skin of the eyelid." [HPO:curators] xref: UMLS:C0302314 is_a: HP:0000991 ! Xanthomatosis is_a: HP:0010604 ! Cysts of the eyelid [Term] id: HP:0001115 name: Posterior polar cataract namespace: medical_genetics def: "A `polar cataract` (HP:0010696) that affects the `posterior pole of the lens` (FMA:58898)." [HPO:probinson] synonym: "Posterior polar cataract" EXACT [] xref: UMLS:C1861837 is_a: HP:0010696 ! Polar cataract [Term] id: HP:0001116 name: Macular coloboma namespace: medical_genetics xref: UMLS:C1857620 is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0001117 name: Sudden central visual loss namespace: medical_genetics xref: UMLS:C0155002 xref: UMLS:C0205099 xref: UMLS:C1879652 is_a: HP:0001123 ! Visual field defects [Term] id: HP:0001118 name: Juvenile cataract namespace: medical_genetics 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). synonym: "Juvenile cataract" EXACT [] xref: UMLS:C0302254 is_a: HP:0000518 ! Cataract [Term] id: HP:0001119 name: Keratoglobus namespace: medical_genetics xref: UMLS:C0344530 is_a: HP:0007660 ! Increased corneal diameter is_a: HP:0100689 ! Decreased corneal thickness [Term] id: HP:0001120 name: Abnormality of corneal size or shape namespace: medical_genetics def: "Any abnormality of the size or morphology of the cornea." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0010031 xref: UMLS:C0332479 xref: UMLS:C0456389 xref: UMLS:C0522512 xref: UMLS:C1704258 is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0001121 name: Plagiocephaly (asymmetry of orbits) namespace: medical_genetics xref: UMLS:C0029180 xref: UMLS:C0265529 xref: UMLS:C0332514 is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0001122 name: Aplasia/Hypoplasia of the choroid namespace: medical_genetics def: "Absence or underdevelopment of the `choroid` (FMA:58298)." [HPO:probinson] xref: UMLS:C0008520 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1305287 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 created_by: peter creation_date: 2008-04-02T03:23:00Z [Term] id: HP:0001123 name: Visual field defects namespace: medical_genetics xref: UMLS:C0036454 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0001124 name: Salt and pepper retinal pigmentation namespace: medical_genetics xref: UMLS:C1857644 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001125 name: Hemianopic blurring of vision namespace: medical_genetics alt_id: HP:0000583 comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. synonym: "Hemianoptic blurring of vision" EXACT [] xref: UMLS:C0042789 xref: UMLS:C0344232 is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0001126 name: Cryptophthalmos namespace: medical_genetics 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] comment: Failure of eyelid formation. xref: UMLS:C0311249 is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0001127 name: Progressive retinitis pigmentosa namespace: medical_genetics synonym: "Retinitis pigmentosa, progressive" EXACT [] xref: UMLS:C0035334 xref: UMLS:C0205329 xref: UMLS:C1854239 is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0001128 name: Trichiasis namespace: medical_genetics def: "Inversion and rubbing of the eyelashes against the globe of the eye." [HPO:curators] comment: Eyelash inversion. xref: UMLS:C0221259 is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0001129 name: Large central visual field defect namespace: medical_genetics xref: UMLS:C0036454 xref: UMLS:C0205099 xref: UMLS:C0549177 xref: UMLS:C1879652 is_a: HP:0001123 ! Visual field defects [Term] id: HP:0001130 name: Swollen optic disk at onset namespace: medical_genetics xref: UMLS:C0029127 xref: UMLS:C0038999 xref: UMLS:C0332162 xref: UMLS:C0558827 is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001131 name: Corneal dystrophy namespace: medical_genetics def: "An `abnormality of the cornea` (HP:0000481) that is characterized by opacity of one or parts of the cornea." [HPO:probinson] xref: UMLS:C0010036 is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0001132 name: Lens subluxation namespace: medical_genetics def: "Partial dislocation of the lens of the eye." [HPO:curators] xref: UMLS:C0023316 is_a: HP:0000665 ! Lens dislocation [Term] id: HP:0001133 name: Constricted visual fields namespace: medical_genetics alt_id: HP:0007887 synonym: "Depressed visual field" EXACT [] synonym: "Reduced visual fields" EXACT [] synonym: "Visual field constriction" EXACT [] xref: UMLS:C0235095 xref: UMLS:C1849268 xref: UMLS:C1861657 is_a: HP:0001123 ! Visual field defects [Term] id: HP:0001134 name: Anterior polar cataract namespace: medical_genetics def: "A `polar cataract` (HP:0010696) that affects the `anterior pole of the lens` (FMA:58897)." [HPO:probinson] xref: UMLS:C1855179 is_a: HP:0010696 ! Polar cataract [Term] id: HP:0001135 name: Chorioretinal dystrophy namespace: medical_genetics xref: UMLS:C1857627 is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0001136 name: Retinal arteriolar tortuosity namespace: medical_genetics synonym: "Tortuous retinal arterioles" EXACT [] xref: UMLS:C0333076 xref: UMLS:C0580762 xref: UMLS:C1843517 is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0001137 name: Alternating esotropia namespace: medical_genetics xref: UMLS:C0152205 is_a: HP:0000565 ! Esotropia [Term] id: HP:0001138 name: Optic neuropathy namespace: medical_genetics xref: UMLS:C0029132 is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001139 name: Choroideremia namespace: medical_genetics xref: UMLS:C0008525 is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0001140 name: Epibulbar dermoids namespace: medical_genetics def: "An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)." [HPO:curators] synonym: "Epibulbar dermoid" EXACT [] xref: UMLS:C1867616 is_a: HP:0000481 ! Abnormality of the cornea is_a: HP:0000591 ! Abnormality of the sclera [Term] id: HP:0001141 name: Severe visual impairment namespace: medical_genetics alt_id: HP:0007842 alt_id: HP:0007951 synonym: "Marked vision impairment" EXACT [] synonym: "Severely impaired vision" EXACT [] xref: UMLS:C0042798 xref: UMLS:C0205082 xref: UMLS:C0522501 xref: UMLS:C1301509 xref: UMLS:C1706089 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0001142 name: Lenticonus namespace: medical_genetics comment: A conical projection of the anterior or posterior surface of the lens. xref: UMLS:C0239119 is_a: HP:0000517 ! Abnormality of the lens [Term] id: HP:0001143 name: Small eyes namespace: medical_genetics xref: UMLS:C1837464 is_a: HP:0000489 ! Abnormality of globe location or size is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye [Term] id: HP:0001144 name: Orbital cysts namespace: medical_genetics def: "Presence of cysts 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:curators] xref: UMLS:C0155285 is_a: HP:0000315 ! Abnormality of the orbital region [Term] id: HP:0001145 name: Chorioretinopathy namespace: medical_genetics xref: UMLS:C0339383 is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0001146 name: Pigmentary retinal degeneration namespace: medical_genetics synonym: "Retinal pigmentary degeneration" EXACT [] xref: UMLS:C0151891 xref: UMLS:C1833999 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0001147 name: Retinal exudates namespace: medical_genetics xref: UMLS:C0240897 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001148 name: Pale flat disk late namespace: medical_genetics xref: UMLS:C0030232 xref: UMLS:C0180459 xref: UMLS:C0205087 xref: UMLS:C0205324 xref: UMLS:C0457933 xref: UMLS:C0678215 xref: UMLS:C0993608 xref: UMLS:C1556138 xref: UMLS:C1705229 xref: UMLS:C1705370 xref: UMLS:C1971630 xref: UMLS:C2348299 is_a: HP:0000543 ! Pale optic disks [Term] id: HP:0001149 name: Lattice corneal dystrophy namespace: medical_genetics 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 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0001150 name: Choroidal sclerosis namespace: medical_genetics xref: UMLS:C0344297 is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0001151 name: Impaired horizontal smooth pursuit namespace: medical_genetics def: "An `abnormality of ocular smooth pursuit` (HP:0000617) characterized by an impairment of the ability to track horizontally moving objects." [HPO:probinson] synonym: "Impaired horizontal visual pursuit" EXACT [] xref: UMLS:C1836398 xref: UMLS:C1866753 is_a: HP:0007772 ! Impaired smooth pursuit [Term] id: HP:0001152 name: Saccadic smooth pursuit namespace: medical_genetics xref: UMLS:C1853405 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0001153 name: Septate vagina namespace: medical_genetics 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 is_a: HP:0000142 ! Abnormality of the vagina [Term] id: HP:0001155 name: Abnormality of the hand namespace: medical_genetics alt_id: HP:0005858 def: "An abnormality affecting one or both hands." [HPO:curators] synonym: "Hand anomalies" EXACT [] synonym: "Hand deformities" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0018563 xref: UMLS:C0018564 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704258 is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0001156 name: Brachydactyly namespace: medical_genetics xref: UMLS:C0221357 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0001159 name: Syndactyly namespace: medical_genetics 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:curators] comment: This term may be obsoleted in the future. The degree can be indicated in the annotation file. synonym: "Mild syndactyly" EXACT [] xref: UMLS:C0039075 xref: UMLS:C1844576 xref: UMLS:C2117411 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0001161 name: Polydactyly (hands) namespace: medical_genetics def: "A kind of `polydactyly` (HP:0010442) characterized by the presence of a supernumerary finger or fingers." [HPO:probinson] synonym: "Preaxial or postaxial polydactyly" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0152427 xref: UMLS:C0205110 xref: UMLS:C0220697 xref: UMLS:C2117329 is_a: HP:0009997 ! Partial/complete duplication of phalanges of the hand is_a: HP:0010442 ! Polydactyly [Term] id: HP:0001162 name: Postaxial polydactyly (hands) namespace: medical_genetics alt_id: HP:0005763 alt_id: HP:0009984 def: "Supernumerary digits located at the ulnar side of the hand." [HPO:sdoelken] synonym: "Polydactyly affecting the 5th finger" EXACT [] synonym: "Polydactyly, postaxial" EXACT [] synonym: "Postaxial polydactyly of hand" EXACT [] synonym: "Postaxial polydactyly of hands" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0152427 xref: UMLS:C0205109 xref: UMLS:C0205439 xref: UMLS:C0220697 xref: UMLS:C0392760 xref: UMLS:C0851278 xref: UMLS:C1281583 xref: UMLS:C1281584 xref: UMLS:C1314939 xref: UMLS:C1552914 xref: UMLS:C2117329 is_a: HP:0001161 ! Polydactyly (hands) 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0025526 xref: UMLS:C1182937 xref: UMLS:C1704258 is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001166 name: Arachnodactyly namespace: medical_genetics alt_id: HP:0001505 def: "Abnormally long and slender fingers (\"spider fingers\")." [HPO:curators] synonym: "Long slender fingers" EXACT [] synonym: "Long, slender fingers" EXACT [] xref: UMLS:C0003706 xref: UMLS:C1858091 is_a: HP:0001238 ! Slender fingers [Term] id: HP:0001167 name: Abnormality of the fingers namespace: medical_genetics alt_id: HP:0003035 comment: Abnormality of hands, feet, or both. synonym: "Abnormalities of the fingers" EXACT [] synonym: "Abnormality of the digits" EXACT [] synonym: "Digital anomalies" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0016129 xref: UMLS:C0442015 xref: UMLS:C0549188 xref: UMLS:C0582802 xref: UMLS:C1704258 xref: UMLS:C1883674 is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001169 name: Broad hands namespace: medical_genetics xref: UMLS:C0264142 is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001171 name: Ectrodactyly (hands) namespace: medical_genetics 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: "Split hand" EXACT [] synonym: "Split-hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0221373 xref: UMLS:C0265554 xref: UMLS:C1842987 xref: UMLS:C1968945 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0100257 ! Ectrodactyly [Term] id: HP:0001172 name: Abnormality of the thumb namespace: medical_genetics synonym: "Abnormality of the thumbs" EXACT [] synonym: "Thumb deformity" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0040067 xref: UMLS:C0575897 xref: UMLS:C1269613 xref: UMLS:C1704258 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001174 name: Short broad hands namespace: medical_genetics synonym: "Short, broad hands" EXACT [] xref: UMLS:C1849956 is_a: HP:0001169 ! Broad hands is_a: HP:0004279 ! Hypoplastic hand [Term] id: HP:0001176 name: Large hands namespace: medical_genetics alt_id: HP:0006044 alt_id: HP:0006219 synonym: "Disproportionately large hands" EXACT [] synonym: "Relatively large hands" EXACT [] xref: UMLS:C0426870 xref: UMLS:C1859463 xref: UMLS:C1868562 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001177 name: Preaxial polydactyly (hands) namespace: medical_genetics 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:curators] synonym: "Polydactyly affecting the thumb" EXACT [] synonym: "Polydactyly, preaxial" EXACT [] synonym: "thumb polydactyly" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0040067 xref: UMLS:C0152427 xref: UMLS:C0205110 xref: UMLS:C0345354 xref: UMLS:C0392760 xref: UMLS:C1269613 xref: UMLS:C1314939 xref: UMLS:C1395852 xref: UMLS:C2117329 is_a: HP:0001161 ! Polydactyly (hands) is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0100258 ! Preaxial polydactyly [Term] id: HP:0001178 name: Claw hand deformities (in severe cases) namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0868928 xref: UMLS:C1519275 xref: UMLS:C1533148 xref: UMLS:C1842987 is_a: HP:0001171 ! Ectrodactyly (hands) [Term] id: HP:0001180 name: Oligodactyly (hands) namespace: medical_genetics def: "A developmental defect resulting in the presence of fewer than the normal number of fingers." [HPO:curators] xref: UMLS:C0018563 xref: UMLS:C0728895 is_a: HP:0009380 ! Aplasia of the fingers [Term] id: HP:0001181 name: Adducted thumbs namespace: medical_genetics xref: UMLS:C1832151 is_a: HP:0001172 ! Abnormality of the thumb [Term] id: HP:0001182 name: Tapered fingers namespace: medical_genetics alt_id: HP:0005800 alt_id: HP:0007532 synonym: "Distally tapering fingers" EXACT [] synonym: "Tapered fingertips" EXACT [] synonym: "Tapering fingers" EXACT [] xref: UMLS:C0205108 xref: UMLS:C0426886 xref: UMLS:C0441640 xref: UMLS:C1548969 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001187 name: Hyperextensibility of the finger joints namespace: medical_genetics 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:C0016125 xref: UMLS:C1835479 xref: UMLS:C1836995 xref: UMLS:C1857540 is_a: HP:0001167 ! Abnormality of the fingers is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0001188 name: Hand clenching namespace: medical_genetics def: "An abnormal hand posture in which the hands are clenched to fists." [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. synonym: "Clenched hands" EXACT [] xref: UMLS:C0018563 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001189 name: Mild brachydactyly namespace: medical_genetics xref: UMLS:C1864299 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0001191 name: Abnormality of the carpal bones namespace: medical_genetics def: "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)." [HPO:curators] synonym: "Abnormal carpal bones" EXACT [] synonym: "Anomalous carpal bones" EXACT [] synonym: "Carpal bone anomalies" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0007285 xref: UMLS:C1704257 xref: UMLS:C1704258 xref: UMLS:C1840535 xref: UMLS:C1861320 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 namespace: medical_genetics synonym: "Ulnar deviation of hands" EXACT [] synonym: "Ulnar deviation of the hands" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0449752 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand [Term] id: HP:0001194 name: Abnormalities of placenta and umbilical cord namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0032043 xref: UMLS:C0041633 xref: UMLS:C1278988 xref: UMLS:C1281286 xref: UMLS:C1550656 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001195 name: Single umbilical artery namespace: medical_genetics def: "The presence of only a single umbilical artery." [HPO:probinson] comment: The umbilical cord normally has two arteries and one vein. xref: UMLS:C1384670 is_a: HP:0010948 ! Abnormality of the fetal circulation system [Term] id: HP:0001196 name: Short umbilical cord namespace: medical_genetics xref: UMLS:C0266786 is_a: HP:0010881 ! Abnormality of the umbilical cord [Term] id: HP:0001197 name: Abnormality of prenatal development or birth namespace: medical_genetics def: "An abnormality of the fetus or the birth of the fetus." [HPO:probinson] comment: Because of the close link between prenatal developmental abnromalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. xref: UMLS:C0262496 xref: UMLS:C1704257 xref: UMLS:C1853163 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001199 name: Triphalangeal thumb namespace: medical_genetics alt_id: HP:0009610 def: "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. The thumb normally consists of the first metacarpal and a proximal and distal phalanx. All other digits have an additional middle phalanx. This term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:curators] synonym: "Triphalangeal thumbs" EXACT [] synonym: "Triphalangy of thumb" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0241397 xref: UMLS:C1269613 is_a: HP:0001177 ! Preaxial polydactyly (hands) is_a: HP:0009619 ! Accessory phalanx of the thumb [Term] id: HP:0001201 name: Severe brachydactyly namespace: medical_genetics xref: UMLS:C1836188 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0001204 name: Distal symphalangism (hands) namespace: medical_genetics alt_id: HP:0006079 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: "Synostosis of distal phalanges" EXACT [] synonym: "Terminal symphalangism" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0039075 xref: UMLS:C0039093 xref: UMLS:C0391889 xref: UMLS:C0392760 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1314939 xref: UMLS:C1368355 xref: UMLS:C1552914 xref: UMLS:C1843683 xref: UMLS:C1861401 xref: UMLS:C1862158 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 phalanges of the hand is_a: HP:0100263 ! Distal symphalangism [Term] id: HP:0001211 name: Abnormality of the fingertips namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1704258 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001212 name: Prominent fingertip pads namespace: medical_genetics 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:curators] synonym: "Persistence of fingerpads" EXACT [] synonym: "Persistent fetal fingertip pads" EXACT [] synonym: "Prominent finger pads" EXACT [] xref: UMLS:C0546816 xref: UMLS:C1844564 xref: UMLS:C1848512 xref: UMLS:C1969197 is_a: HP:0001211 ! Abnormality of the fingertips [Term] id: HP:0001215 name: Camptodactyly (2nd-5th fingers) namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0205439 xref: UMLS:C0221369 xref: UMLS:C0549188 xref: UMLS:C0685409 is_a: HP:0100490 ! Camptodactyly (hands) [Term] id: HP:0001216 name: Delayed maturation/delayed ossification of carpal bones namespace: medical_genetics synonym: "Carpal delayed ossification" EXACT [] synonym: "Delayed carpal bone age" EXACT [] synonym: "Delayed carpal ossification" EXACT [] xref: UMLS:C0007285 xref: UMLS:C0205421 xref: UMLS:C0870861 xref: UMLS:C1254042 xref: UMLS:C1841684 xref: UMLS:C1843109 xref: UMLS:C1969348 is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0001217 name: Clubbing namespace: medical_genetics alt_id: HP:0003036 def: "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions." [HPO:curators] synonym: "Clubbing of fingers" EXACT [] synonym: "Digital clubbing" EXACT [] synonym: "Finger clubbing" EXACT [] xref: UMLS:C0009080 xref: UMLS:C0016129 xref: UMLS:C0149651 xref: UMLS:C0549188 is_a: HP:0001211 ! Abnormality of the fingertips [Term] id: HP:0001218 name: Autoamputation namespace: medical_genetics xref: UMLS:C1833222 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0001220 name: Interphalangeal joint contractures (hands) namespace: medical_genetics synonym: "Interphalangeal joint flexion contractures" EXACT [] xref: UMLS:C1853485 xref: UMLS:C1854605 is_a: HP:0100490 ! Camptodactyly (hands) [Term] id: HP:0001221 name: Short, thick distal phalanges namespace: medical_genetics xref: UMLS:C1280412 xref: UMLS:C1839829 is_a: HP:0009882 ! Hypoplasia of the distal phalanges of the hand [Term] id: HP:0001222 name: Spatulate thumbs namespace: medical_genetics def: "Spoon-shaped, broad thumbs." [HPO:curators] xref: UMLS:C0241395 is_a: HP:0009651 ! Broad phalanges of the thumb [Term] id: HP:0001223 name: Pointed proximal second through fifth metacarpals namespace: medical_genetics def: "All of the metacarpal bones of the hand have a pointed proximal appearance." [HPO:curators] xref: UMLS:C0205107 xref: UMLS:C0205436 xref: UMLS:C0223783 xref: UMLS:C0457385 xref: UMLS:C0565930 xref: UMLS:C0730166 xref: UMLS:C1552961 xref: UMLS:C1561503 xref: UMLS:C1705190 xref: UMLS:C2347617 xref: UMLS:C2348168 is_a: HP:0006119 ! Proximal tapering of metacarpals [Term] id: HP:0001225 name: Wrist swelling namespace: medical_genetics xref: UMLS:C0241760 is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0001226 name: Acral ulceration and osteomyelitis leading to autoamputation of the digits namespace: medical_genetics xref: UMLS:C0029443 xref: UMLS:C0332152 xref: UMLS:C0582802 xref: UMLS:C1522538 xref: UMLS:C1833222 xref: UMLS:C1837604 is_a: HP:0007460 ! Autoamputation of digits [Term] id: HP:0001227 name: Abnormality of the thenar eminence namespace: medical_genetics 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 [] xref: UMLS:C0000768 xref: UMLS:C0230374 xref: UMLS:C1704258 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0001230 name: Broad metacarpals namespace: medical_genetics xref: UMLS:C1842229 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0001231 name: Abnormality of the fingernails namespace: medical_genetics def: "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0222001 xref: UMLS:C1704258 is_a: HP:0001167 ! Abnormality of the fingers is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001232 name: Nail bed telangiectases namespace: medical_genetics xref: UMLS:C1838167 is_a: HP:0001009 ! Telangiectasia is_a: HP:0001231 ! Abnormality of the fingernails [Term] id: HP:0001233 name: 2-3 finger syndactyly namespace: medical_genetics alt_id: HP:0006039 alt_id: HP:0006122 def: "`Syndactyly` (HP:0001159) with fusion of fingers two and three." [HPO:sdoelken] synonym: "Syndactyly 2nd-3rd fingers" EXACT [] synonym: "Syndactyly, 2-3 finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0221352 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1839283 xref: UMLS:C2117411 is_a: HP:0006101 ! Finger syndactyly [Term] id: HP:0001234 name: Hitchhiker thumb namespace: medical_genetics def: "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." [HPO:curators] xref: UMLS:C1857269 is_a: HP:0001187 ! Hyperextensibility of the finger joints is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0001238 name: Slender fingers namespace: medical_genetics def: "Digits are disproportionaly narrow (reduced girth)." [HPO:curators] synonym: "narrow fingers" EXACT [] synonym: "thin fingers" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C0549188 xref: UMLS:C1839800 xref: UMLS:C1857482 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001239 name: Wrist contractures namespace: medical_genetics alt_id: HP:0006049 synonym: "Wrist contracture" EXACT [] synonym: "Wrist flexion deformity" EXACT [] xref: UMLS:C1850050 xref: UMLS:C1850646 is_a: HP:0003019 ! Abnormality of the wrist is_a: HP:0100360 ! Contractures of the joints of the upper limbs [Term] id: HP:0001240 name: Short, broad thumbs namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0426891 xref: UMLS:C1806781 xref: UMLS:C1849182 xref: UMLS:C2350002 is_a: HP:0009651 ! Broad phalanges of the thumb is_a: HP:0009778 ! Hypoplastic/small thumb [Term] id: HP:0001241 name: Capitate-hamate fusion namespace: medical_genetics synonym: "Capitate-hamate fusions" EXACT [] synonym: "Fusion of capitate and hamate" EXACT [] xref: UMLS:C0223733 xref: UMLS:C0223744 xref: UMLS:C0332466 xref: UMLS:C0560737 xref: UMLS:C1293131 xref: UMLS:C1306477 xref: UMLS:C1857002 is_a: HP:0004259 ! Abnormality of the hamate bone is_a: HP:0004262 ! Abnormality of the capitate bone is_a: HP:0009702 ! Synostosis involving the carpal bones [Term] id: HP:0001245 name: Thenar hypoplasia namespace: medical_genetics alt_id: HP:0006188 def: "Underdevelopment of the thenar eminence." [HPO:curators] synonym: "Hypoplastic thenar eminences" EXACT [] synonym: "Thenar muscle hypoplasia" EXACT [] xref: UMLS:C1835606 xref: UMLS:C1841681 xref: UMLS:C1846474 is_a: HP:0001227 ! Abnormality of the thenar eminence [Term] id: HP:0001248 name: Short tubular bones (hand) namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1865033 is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001249 name: Mental retardation namespace: medical_genetics def: "Subnormal intellectual functioning which originates during the developmental period. Mental retardation has been defined as an IQ score below 70." [HPO:probinson] synonym: "Mental retardation has been reported" EXACT [] synonym: "Mental retardation," EXACT [] synonym: "Mental retardation." EXACT [] synonym: "Mental-retardation" EXACT [] xref: UMLS:C0025362 xref: UMLS:C0684224 xref: UMLS:C0700287 is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0001250 name: Seizures namespace: medical_genetics alt_id: HP:0002306 alt_id: HP:0002430 alt_id: HP:0002466 def: "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." [HPO:probinson] synonym: "general convulsion" EXACT [HPO:skoehler] synonym: "Seizure" EXACT [] xref: UMLS:C0036572 xref: UMLS:C1959629 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001251 name: Ataxia namespace: medical_genetics alt_id: HP:0001253 alt_id: HP:0002513 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:curators] 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 [] synonym: "Spinocerebellar ataxia" EXACT [] xref: UMLS:C0004134 xref: UMLS:C0007758 xref: UMLS:C0087012 is_a: HP:0001317 ! Abnormality of the cerebellum is_a: HP:0002311 ! Incoordination [Term] id: HP:0001252 name: Muscular hypotonia namespace: medical_genetics 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 [] xref: UMLS:C0026827 is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0001254 name: Lethargy namespace: medical_genetics xref: UMLS:C0023380 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001255 name: Psychomotor developmental delay namespace: medical_genetics alt_id: HP:0001277 alt_id: HP:0001292 alt_id: HP:0006793 alt_id: HP:0006935 alt_id: HP:0007342 def: "A type of `Developmental retardation` (HP:0001263) affecting both mental and motor development." [HPO:probinson] comment: 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: "Delayed development, severe" EXACT [] synonym: "Delayed psychomotor development" EXACT [] synonym: "Delayed psychomotor development, severe" EXACT [] synonym: "Lack of psychomotor development" EXACT [] synonym: "Marked psychomotor retardation" EXACT [] synonym: "Mental and motor retardation" EXACT [] synonym: "Mild to moderate psychomotor delay" EXACT [] synonym: "Motor and developmental delay" EXACT [] synonym: "Profound psychomotor retardation" 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: "Psychomotor retardation, severe" EXACT [] synonym: "Psychomotor retardation, variable" EXACT [] synonym: "Retarded mental development" EXACT [] synonym: "Retarded psychomotor development" EXACT [] synonym: "Severe psychomotor delay" EXACT [] synonym: "Severe psychomotor retardation" EXACT [] xref: UMLS:C0011155 xref: UMLS:C0162429 xref: UMLS:C0205082 xref: UMLS:C0229992 xref: UMLS:C0231174 xref: UMLS:C0332268 xref: UMLS:C0392358 xref: UMLS:C0424230 xref: UMLS:C0424605 xref: UMLS:C0439828 xref: UMLS:C0458003 xref: UMLS:C0521111 xref: UMLS:C0522501 xref: UMLS:C0599735 xref: UMLS:C0678723 xref: UMLS:C0680095 xref: UMLS:C1513492 xref: UMLS:C1519275 xref: UMLS:C1623416 xref: UMLS:C1705098 xref: UMLS:C1705994 xref: UMLS:C1706089 xref: UMLS:C1834714 xref: UMLS:C1836034 xref: UMLS:C1837619 xref: UMLS:C1854919 xref: UMLS:C1855773 xref: UMLS:C2165334 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0001256 name: Mental retardation, mild namespace: medical_genetics def: "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] synonym: "Developmental delay, mild" EXACT [] synonym: "Mild developmental delay" EXACT [] synonym: "Mild mental retardation" EXACT [] synonym: "Mild psychomotor retardation" EXACT [] xref: UMLS:C0025362 xref: UMLS:C0026106 xref: UMLS:C0424605 xref: UMLS:C0547040 xref: UMLS:C1848735 xref: UMLS:C2229182 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0001257 name: Spasticity namespace: medical_genetics def: "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:curators] xref: UMLS:C0026838 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001258 name: Spastic paraplegia namespace: medical_genetics xref: UMLS:C0037772 is_a: HP:0001257 ! Spasticity [Term] id: HP:0001259 name: Coma namespace: medical_genetics xref: UMLS:C0009421 xref: UMLS:C0271270 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001260 name: Dysarthria namespace: medical_genetics 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: UMLS:C0013362 xref: UMLS:C1839743 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0001262 name: Somnolence namespace: medical_genetics xref: UMLS:C0013144 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001263 name: Developmental retardation namespace: medical_genetics alt_id: HP:0000754 alt_id: HP:0002433 alt_id: HP:0002473 alt_id: HP:0007224 def: "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] 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 mental retardation is not merely a delay in development but rather a permanent limitation. synonym: "Delayed development" EXACT [] synonym: "Delayed developmental milestones" EXACT [] synonym: "Delayed intellectual development" EXACT [] synonym: "Delayed milestones" EXACT [] synonym: "Developmental delay" EXACT [] synonym: "Developmental delay, global" EXACT [] synonym: "Developmental delay, severe" EXACT [] synonym: "Developmental delay, variable" EXACT [] synonym: "Global developmental delay" EXACT [] synonym: "Neurodevelopmental impairment" EXACT [] synonym: "Retarded development" EXACT [] xref: UMLS:C0020119 xref: UMLS:C0205082 xref: UMLS:C0205246 xref: UMLS:C0243107 xref: UMLS:C0424605 xref: UMLS:C0439828 xref: UMLS:C0476241 xref: UMLS:C0521111 xref: UMLS:C0557874 xref: UMLS:C0599855 xref: UMLS:C0678723 xref: UMLS:C0684336 xref: UMLS:C1401112 xref: UMLS:C1519275 xref: UMLS:C1527148 xref: UMLS:C1705098 xref: UMLS:C2348867 is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0001264 name: Spastic diplegia namespace: medical_genetics def: "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [HPO:curators] xref: UMLS:C0023882 is_a: HP:0001257 ! Spasticity [Term] id: HP:0001265 name: Hyporeflexia namespace: medical_genetics 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:C0034943 xref: UMLS:C0151888 xref: UMLS:C0205216 xref: UMLS:C0344315 xref: UMLS:C0489815 xref: UMLS:C0700078 xref: UMLS:C1579931 is_a: HP:0001315 ! Reduced reflexes [Term] id: HP:0001266 name: Choreoathetosis namespace: medical_genetics alt_id: HP:0002469 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 xref: UMLS:C0234967 is_a: HP:0002072 ! Chorea [Term] id: HP:0001267 name: Mental deficiency namespace: medical_genetics xref: UMLS:C0917816 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0001268 name: Mental deterioration namespace: medical_genetics alt_id: HP:0002303 alt_id: HP:0007155 alt_id: HP:0007253 alt_id: HP:0007298 synonym: "Cognitive decline" EXACT [] synonym: "Cognitive decline, progressive" EXACT [] synonym: "Intellectual deterioration" EXACT [] synonym: "Progressive cognitive decline" EXACT [] xref: UMLS:C0205329 xref: UMLS:C0234985 xref: UMLS:C0338656 xref: UMLS:C1856495 xref: UMLS:C1863063 is_a: HP:0002489 ! Psychomotor regression [Term] id: HP:0001269 name: Hemiparesis namespace: medical_genetics def: "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] xref: UMLS:C0018989 is_a: HP:0004374 ! Hemiplegia/hemiparesis [Term] id: HP:0001270 name: Motor retardation namespace: medical_genetics alt_id: HP:0001307 alt_id: HP:0002130 def: "A type of `Developmental retardation` (HP:0001263) characterized by a delay in acquiring motor skills." [HPO:probinson] synonym: "Delay in motor development" EXACT [] synonym: "Delayed motor development" EXACT [] synonym: "Delayed motor milestones" EXACT [] synonym: "Locomotor delay" EXACT [] synonym: "Motor delay" EXACT [] synonym: "Motor developmental delay" EXACT [] synonym: "Retarded motor development" EXACT [] xref: UMLS:C0205421 xref: UMLS:C0424230 xref: UMLS:C0870919 xref: UMLS:C1834091 xref: UMLS:C1847765 xref: UMLS:C1852607 xref: UMLS:C1854301 xref: UMLS:C1864913 is_a: HP:0001263 ! Developmental retardation is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0001271 name: Polyneuropathy namespace: medical_genetics def: "A generalized disorder of peripheral nerves." [HPO:curators] xref: UMLS:C0152025 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001272 name: Cerebellar atrophy namespace: medical_genetics alt_id: HP:0006839 def: "Atrophy of the cerebellum`(FMA:67944)." [HPO:probinson] synonym: "Cerebellar atrophy on MRI" RELATED [] synonym: "Infratentorial atrophy" RELATED [] synonym: "MRI shows cerebellar atrophy" RELATED [] xref: UMLS:C0024485 xref: UMLS:C0740279 xref: UMLS:C1547282 xref: UMLS:C2183255 is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0001273 name: Abnormality of the corpus callosum namespace: medical_genetics def: "Abnormality of the `corpus callosum` (FMA:86464)." [HPO:probinson] 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. synonym: "Abnormal corpus callosum" EXACT [] synonym: "Corpus callosum abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0010090 xref: UMLS:C1704258 xref: UMLS:C1842581 is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0001274 name: Agenesis of corpus callosum namespace: medical_genetics 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 [] xref: UMLS:C0000846 xref: UMLS:C0010090 xref: UMLS:C0175754 xref: UMLS:C0332907 xref: UMLS:C1689985 xref: UMLS:C2107118 xref: UMLS:C2119045 is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0001275 name: Epilepsy namespace: medical_genetics def: "Epilepsy is used to describe chronic, recurrent `seizures` (HP:0001250)." [HPO:curators] comment: The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. xref: UMLS:C0014544 is_a: HP:0001250 ! Seizures [Term] id: HP:0001276 name: Hypertonia namespace: medical_genetics synonym: "Increased muscle tone" EXACT [] xref: UMLS:C0026826 is_a: HP:0001257 ! Spasticity [Term] id: HP:0001278 name: Orthostatic hypotension namespace: medical_genetics 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:curators] synonym: "Postural hypotension" EXACT [] xref: UMLS:C0020651 xref: UMLS:C0037019 is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0002615 ! Hypotension [Term] id: HP:0001279 name: Syncope namespace: medical_genetics 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. This term refers to an abnormally increased disposition to syncope." [HPO:curators] xref: UMLS:C0039070 is_a: HP:0001626 ! Abnormality of the cardiovascular system created_by: peter creation_date: 2008-02-25T10:37:00Z [Term] id: HP:0001281 name: Tetany namespace: medical_genetics 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: UMLS:C0039621 is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0001283 name: Bulbar palsy namespace: medical_genetics 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 xref: UMLS:C1301959 xref: UMLS:C1837124 is_a: HP:0001324 ! Muscle weakness is_a: HP:0002363 ! Abnormality of the brainstem [Term] id: HP:0001284 name: Areflexia namespace: medical_genetics 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 xref: UMLS:C0241772 xref: UMLS:C0278124 xref: UMLS:C0332197 xref: UMLS:C0489815 xref: UMLS:C1517945 is_a: HP:0001315 ! Reduced reflexes [Term] id: HP:0001285 name: Spastic tetraparesis namespace: medical_genetics alt_id: HP:0002393 def: "Spastic weakness affecting all four limbs." [HPO:curators] synonym: "Spastic quadriparesis" EXACT [] xref: UMLS:C0877576 xref: UMLS:C1853397 is_a: HP:0001257 ! Spasticity [Term] id: HP:0001286 name: Low intelligence namespace: medical_genetics synonym: "Dull intelligence" EXACT [] xref: UMLS:C0021704 xref: UMLS:C0423903 xref: UMLS:C0443208 xref: UMLS:C1455762 xref: UMLS:C1880427 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001287 name: Meningitis namespace: medical_genetics def: "`Inflammation` (MPATH:212) of the `meninges` (FMA:231572)." [HPO:probinson] xref: UMLS:C0025289 is_a: HP:0010651 ! Abnormality of the meninges [Term] id: HP:0001288 name: Gait disturbance namespace: medical_genetics 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:curators] 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 xref: UMLS:C1839568 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001289 name: Confusion namespace: medical_genetics alt_id: HP:0000731 def: "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] synonym: "Disorientation" EXACT [] xref: UMLS:C0009676 xref: UMLS:C0233407 xref: UMLS:C1963086 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001290 name: Generalized hypotonia namespace: medical_genetics def: "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] synonym: "Generalized muscular hypotonia" EXACT [] synonym: "Hypotonia, generalized" EXACT [] xref: UMLS:C0026827 xref: UMLS:C0026845 xref: UMLS:C0205246 xref: UMLS:C0442025 xref: UMLS:C1858120 is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0001291 name: Abnormality of the cranial nerves namespace: medical_genetics def: "Abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [HPO:curators.] synonym: "Cranial nerve abnormality" RELATED [] xref: UMLS:C0000768 xref: UMLS:C0010268 xref: UMLS:C0549640 xref: UMLS:C0558819 xref: UMLS:C1704258 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001293 name: Cranial nerve compression namespace: medical_genetics xref: UMLS:C0521670 is_a: HP:0001291 ! Abnormality of the cranial nerves [Term] id: HP:0001295 name: Involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers namespace: medical_genetics xref: UMLS:C0015385 xref: UMLS:C0016129 xref: UMLS:C0031084 xref: UMLS:C0040822 xref: UMLS:C0205108 xref: UMLS:C0427086 xref: UMLS:C0549188 xref: UMLS:C0871269 xref: UMLS:C1654618 xref: UMLS:C1963252 xref: UMLS:C2364114 is_a: HP:0004305 ! Involuntary muscle contractions [Term] id: HP:0001296 name: Mood alterations namespace: medical_genetics xref: UMLS:C1291710 xref: UMLS:C1881898 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0001297 name: Stroke namespace: medical_genetics xref: UMLS:C0038454 is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0100659 ! Abnormality of the cerebral vasculature [Term] id: HP:0001298 name: Encephalopathy namespace: medical_genetics xref: UMLS:C0085584 xref: UMLS:C1963101 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001300 name: Parkinsonism namespace: medical_genetics xref: UMLS:C0242422 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001301 name: Chronic sensorineural polyneuropathy namespace: medical_genetics xref: UMLS:C1167650 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001302 name: Pachygyria namespace: medical_genetics 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 is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0001303 name: Intractable seizures namespace: medical_genetics xref: UMLS:C0036572 xref: UMLS:C0205269 is_a: HP:0001250 ! Seizures [Term] id: HP:0001304 name: Torsion dystonia namespace: medical_genetics synonym: "Dystonia musculorum deformans" EXACT [] xref: UMLS:C0013423 is_a: HP:0001332 ! Dystonia [Term] id: HP:0001305 name: Dandy-Walker malformation namespace: medical_genetics alt_id: HP:0001313 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 body's 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:curators] synonym: "Dandy-walker anomaly" EXACT [] synonym: "Dandy-Walker cyst" EXACT [] xref: UMLS:C0010964 xref: UMLS:C1856021 is_a: HP:0001312 ! Giant somatosensory evoked potentials is_a: HP:0002350 ! Cerebellar cysts [Term] id: HP:0001306 name: Generalized tonic-clonic seizures (GTCS), infrequent namespace: medical_genetics xref: UMLS:C0494475 xref: UMLS:C0521114 is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0001308 name: Tongue fasciculations namespace: medical_genetics xref: UMLS:C0239548 is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0002380 ! Fasciculations [Term] id: HP:0001309 name: Movements ('tremors') characterized by 8 to 10-Hz discharges namespace: medical_genetics xref: UMLS:C0012621 xref: UMLS:C0026649 xref: UMLS:C0040822 xref: UMLS:C0439482 xref: UMLS:C1880022 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001310 name: Dysmetria namespace: medical_genetics def: "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." [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 is_a: HP:0001251 ! Ataxia [Term] id: HP:0001311 name: Neurophysiological abnormality namespace: medical_genetics alt_id: HP:0002531 synonym: "Neurophysiologic abnormalities" EXACT [] synonym: "Neurophysiologic abnormalities (EEG, VEP, SEP)" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0013819 xref: UMLS:C0027901 xref: UMLS:C0700630 xref: UMLS:C1418664 xref: UMLS:C1419968 xref: UMLS:C1704258 xref: UMLS:C1826261 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001312 name: Giant somatosensory evoked potentials namespace: medical_genetics def: "An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials." [HPO:curators] synonym: "Giant somatosensory evoked potentials (SEPS)" EXACT [] xref: UMLS:C0015216 xref: UMLS:C0017547 xref: UMLS:C1305867 is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0001315 name: Reduced reflexes namespace: medical_genetics alt_id: HP:0001316 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 [] xref: UMLS:C0004093 xref: UMLS:C0034929 xref: UMLS:C0086439 xref: UMLS:C0205216 xref: UMLS:C0241772 xref: UMLS:C0278124 xref: UMLS:C0332197 xref: UMLS:C0392756 xref: UMLS:C0436145 xref: UMLS:C0596002 xref: UMLS:C0700078 xref: UMLS:C1762617 xref: UMLS:C1883552 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0001317 name: Abnormality of the cerebellum namespace: medical_genetics def: "An abnormality of the `cerebellum` (FMA:67944)." [HPO:probinson] synonym: "Cerebellar abnormalities" EXACT [] synonym: "Cerebellar abnormality" EXACT [] synonym: "Cerebellar anomaly" EXACT [] synonym: "Cerebellar signs" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0007760 xref: UMLS:C0007765 xref: UMLS:C0742038 xref: UMLS:C1268981 xref: UMLS:C1704258 xref: UMLS:C1866129 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001319 name: Neonatal hypotonia namespace: medical_genetics 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:C0021289 xref: UMLS:C0026827 xref: UMLS:C1552240 xref: UMLS:C1552264 xref: UMLS:C1855106 xref: UMLS:C2267233 is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0001320 name: Cerebellar vermis hypoplasia namespace: medical_genetics synonym: "Cerebellar vermal hypoplasia" EXACT [] synonym: "Hypoplasia of the cerebellar vermis" EXACT [] synonym: "Hypoplastic cerebellar vermis " EXACT [] xref: UMLS:C0228482 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1281000 xref: UMLS:C1840379 xref: UMLS:C1854109 xref: UMLS:C1865061 is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0001321 name: Cerebellar hypoplasia namespace: medical_genetics alt_id: HP:0006806 alt_id: HP:0006910 alt_id: HP:0007038 def: "Underdevelopment of the `cerebellum` (FMA:67944)." [HPO:probinson] comment: By prenatal ultrasound, cerebellar hypoplasia is diagnosed if the cerebellum measures more than two standard deviations below the mean. synonym: "Congenital cerebellar hypoplasia" EXACT [] synonym: "Hypoplasia of cerebellum" EXACT [] synonym: "Hypoplastic cerebellum" EXACT [] synonym: "Mri shows cerebellar hypoplasia" EXACT [] xref: UMLS:C0007765 xref: UMLS:C0024485 xref: UMLS:C0243069 xref: UMLS:C0266470 xref: UMLS:C0543481 xref: UMLS:C1268981 xref: UMLS:C1547282 xref: UMLS:C2183255 is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum [Term] id: HP:0001322 name: Brain very small namespace: medical_genetics xref: UMLS:C0006104 xref: UMLS:C0442824 xref: UMLS:C0700321 xref: UMLS:C1269537 is_a: HP:0006872 ! Cerebral hypoplasia [Term] id: HP:0001324 name: Muscle weakness namespace: medical_genetics def: "Reduced strength of muscles." [HPO:curators] synonym: "Muscular weakness" EXACT [] xref: UMLS:C0151786 is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0001325 name: Hypoglycemic coma namespace: medical_genetics synonym: "Coma, hypoglycemic" EXACT [] synonym: "Loss of consciousness due to hypoglycemia" EXACT [] xref: UMLS:C0009421 xref: UMLS:C0020615 xref: UMLS:C0020616 xref: UMLS:C0020617 xref: UMLS:C0234421 xref: UMLS:C0271270 xref: UMLS:C0517960 xref: UMLS:C1517945 is_a: HP:0001259 ! Coma [Term] id: HP:0001326 name: EEG shows generalized and focal spike and wave complexes namespace: medical_genetics xref: UMLS:C0013819 xref: UMLS:C0205246 xref: UMLS:C0429318 xref: UMLS:C1547282 xref: UMLS:C1622539 is_a: HP:0010850 ! EEG: spike-wave complexes [Term] id: HP:0001327 name: Photomyoclonic seizures namespace: medical_genetics xref: UMLS:C0036572 is_a: HP:0001250 ! Seizures [Term] id: HP:0001328 name: Learning disability namespace: medical_genetics 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. synonym: "Learning difficulties" EXACT [] synonym: "Learning disabilities" EXACT [] xref: UMLS:C0424939 xref: UMLS:C0751265 xref: UMLS:C1321592 is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0001329 name: Progressive ataxia namespace: medical_genetics xref: UMLS:C1859521 is_a: HP:0001251 ! Ataxia [Term] id: HP:0001330 name: Photoparoxysmal response on EEG namespace: medical_genetics xref: UMLS:C0013819 xref: UMLS:C0349506 is_a: HP:0002353 ! EEG abnormalities [Term] id: HP:0001331 name: Absent septum pellucidum namespace: medical_genetics def: "Absence of the septum pellucidum." [HPO:curators] synonym: "Absence of septum pellucidum" EXACT [] synonym: "Agenesis of the septum pellucidum" EXACT [] xref: UMLS:C0000846 xref: UMLS:C0036700 xref: UMLS:C0332907 xref: UMLS:C1689985 xref: UMLS:C1848502 xref: UMLS:C2107118 xref: UMLS:C2119045 is_a: HP:0007375 ! Abnormality of the septum pellucidum [Term] id: HP:0001332 name: Dystonia namespace: medical_genetics 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:curators] synonym: "Dystonic movements" EXACT [] xref: UMLS:C0013421 xref: UMLS:C0393593 is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001333 name: Abnormality of the sensory nervous system namespace: medical_genetics xref: UMLS:C0445254 xref: UMLS:C1457869 xref: UMLS:C1861101 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0001334 name: Communicating hydrocephalus namespace: medical_genetics def: "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." [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 is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0001335 name: Mirror hand movements (bimanual synkinesia) namespace: medical_genetics synonym: "Hand mirror movements" EXACT [] synonym: "Mirror hand movements" EXACT [] synonym: "Mirror movements" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0234362 xref: UMLS:C0454455 xref: UMLS:C1261201 xref: UMLS:C1281583 xref: UMLS:C1511117 xref: UMLS:C1552914 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001336 name: Myoclonus namespace: medical_genetics alt_id: HP:0002535 def: "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] synonym: "Myoclonic jerks" EXACT [] xref: UMLS:C0027066 is_a: HP:0004305 ! Involuntary muscle contractions [Term] id: HP:0001337 name: Tremor namespace: medical_genetics def: "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] xref: UMLS:C0040822 xref: UMLS:C1963252 xref: UMLS:C2364114 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001338 name: Partial agenesis of the corpus callosum namespace: medical_genetics 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 to complete agenesis of corpus callosum" EXACT [] synonym: "Partial-total agenesis of corpus callosum" EXACT [] xref: UMLS:C0000846 xref: UMLS:C0010090 xref: UMLS:C0175754 xref: UMLS:C0205197 xref: UMLS:C0332907 xref: UMLS:C0332908 xref: UMLS:C0431368 xref: UMLS:C0439175 xref: UMLS:C0439810 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C2119045 is_a: HP:0001274 ! Agenesis of corpus callosum [Term] id: HP:0001339 name: Lissencephaly namespace: medical_genetics 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: UMLS:C0266463 xref: UMLS:C1879312 is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0001340 name: Enhancement of the C-reflex namespace: medical_genetics xref: UMLS:C0034929 xref: UMLS:C0439840 xref: UMLS:C0596002 xref: UMLS:C1627358 xref: UMLS:C2349975 is_a: HP:0001311 ! Neurophysiological abnormality [Term] id: HP:0001341 name: Olfactory lobe agenesis namespace: medical_genetics synonym: "Olfactory lobe absence" EXACT [] xref: UMLS:C0000846 xref: UMLS:C0178780 xref: UMLS:C0332907 xref: UMLS:C1855331 xref: UMLS:C2119045 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001342 name: Cerebral hemorrhage namespace: medical_genetics alt_id: HP:0002137 def: "`Hemorrhage` (MPATH:119) occurring within the `brain` (FMA:50801)." [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: UMLS:C0007784 is_a: HP:0002170 ! Intracranial hemorrhage [Term] id: HP:0001343 name: Kernicterus namespace: medical_genetics 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:curators] xref: UMLS:C0022610 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001344 name: Absent speech development namespace: medical_genetics synonym: "No speech development" EXACT [] synonym: "No speech or language development" EXACT [] xref: UMLS:C0020119 xref: UMLS:C0023013 xref: UMLS:C0037817 xref: UMLS:C0243107 xref: UMLS:C0332197 xref: UMLS:C0678723 xref: UMLS:C0846595 xref: UMLS:C0871408 xref: UMLS:C1527148 xref: UMLS:C1856200 is_a: HP:0002116 ! Deficiency of speech development [Term] id: HP:0001345 name: Psychotic mentation namespace: medical_genetics xref: UMLS:C0033975 xref: UMLS:C0459435 is_a: HP:0000709 ! Psychosis [Term] id: HP:0001346 name: Electrophysiologic studies indicate cortical origin namespace: medical_genetics xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0199551 xref: UMLS:C0439659 xref: UMLS:C1444656 xref: UMLS:C1550512 is_a: HP:0001311 ! Neurophysiological abnormality [Term] id: HP:0001347 name: Hyperreflexia namespace: medical_genetics alt_id: HP:0001282 alt_id: HP:0006820 def: "The presence of overactive or overresponsive reflexes." [HPO:curators] synonym: "Increased deep tendon reflexes" EXACT [] synonym: "Increased reflexes" EXACT [] xref: UMLS:C0151889 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001348 name: Brisk reflexes namespace: medical_genetics xref: UMLS:C0034929 xref: UMLS:C0436145 xref: UMLS:C0443162 xref: UMLS:C0596002 xref: UMLS:C1706089 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0001349 name: Facial diplegia namespace: medical_genetics alt_id: HP:0007085 def: "Facial diplegia refers to simultaneous facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [HPO:curators] synonym: "Bilateral facial weakness" EXACT [] xref: UMLS:C1836003 xref: UMLS:C2237598 is_a: HP:0010628 ! Facial nerve palsy [Term] id: HP:0001350 name: Slurred speech namespace: medical_genetics xref: UMLS:C0234518 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0001351 name: Jerk-locked premyoclonus spikes namespace: medical_genetics xref: UMLS:C1550024 xref: UMLS:C1704783 is_a: HP:0001311 ! Neurophysiological abnormality [Term] id: HP:0001354 name: Headaches at onset namespace: medical_genetics synonym: "Headaches at onset." EXACT [] xref: UMLS:C0018681 xref: UMLS:C0332162 is_a: HP:0002315 ! Headache [Term] id: HP:0001355 name: Megalencephaly namespace: medical_genetics def: "The presence of an unusually large, and usually malfunctioning brain." [HPO:curators] synonym: "Macrencephaly" EXACT [] xref: UMLS:C0221355 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0001356 name: Dolichoturricephaly namespace: medical_genetics is_a: HP:0000262 ! Turricephaly is_a: HP:0000268 ! Dolichocephaly [Term] id: HP:0001357 name: Plagiocephaly namespace: medical_genetics 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. xref: UMLS:C0265529 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0001358 name: Bulging forehead namespace: medical_genetics xref: UMLS:C1867446 is_a: HP:0002007 ! Frontal bossing [Term] id: HP:0001359 name: Mild frontal bossing namespace: medical_genetics def: "The presence of a mildly prominent forehead." [HPO:curators] xref: UMLS:C1840337 is_a: HP:0002007 ! Frontal bossing [Term] id: HP:0001360 name: Holoprosencephaly namespace: medical_genetics def: "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [gc:hpe] xref: UMLS:C0079541 is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0007319 ! Malformation of the central nervous system [Term] id: HP:0001361 name: Head nodding namespace: medical_genetics xref: UMLS:C0018670 xref: UMLS:C0085243 xref: UMLS:C0751781 xref: UMLS:C1281590 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0001362 name: Skull defect namespace: medical_genetics 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:curators] xref: UMLS:C0037303 xref: UMLS:C1457869 xref: UMLS:C1861101 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0001363 name: Craniosynostosis namespace: medical_genetics alt_id: HP:0005448 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:curators] synonym: "Craniosyostosis" EXACT [] synonym: "Early fusion of cranial sutures" EXACT [] synonym: "Premature closure of cranial sutures" EXACT [] synonym: "Premature fontanel closure" EXACT [] xref: UMLS:C0010272 xref: UMLS:C0010278 xref: UMLS:C0332466 xref: UMLS:C0332877 xref: UMLS:C1279919 xref: UMLS:C1293131 xref: UMLS:C1442871 xref: UMLS:C1849943 is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0001365 name: Craniostenosis namespace: medical_genetics def: "A skull deformity caused by the premature closure of the cranial sutures." [HPO:curators] comment: Skull deformity caused by the premature closure of the cranial sutures. xref: UMLS:C0010278 is_a: HP:0001363 ! Craniosynostosis [Term] id: HP:0001367 name: Abnormality of the joints namespace: medical_genetics def: "An abnormality of the joints, i.e., of the articulations where two bones join." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0022417 xref: UMLS:C0392905 xref: UMLS:C1704258 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0001369 name: Arthritis namespace: medical_genetics xref: UMLS:C0003864 is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001370 name: Rheumatoid arthritis namespace: medical_genetics xref: UMLS:C0003873 is_a: HP:0001369 ! Arthritis [Term] id: HP:0001371 name: Contractures namespace: medical_genetics alt_id: HP:0001372 alt_id: HP:0005053 def: "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: "Flexion contracture" EXACT [] synonym: "Flexion contractures" EXACT [] synonym: "Flexion contractures of joints" EXACT [] synonym: "Joint contracture" EXACT [] synonym: "Joint contractures" EXACT [] synonym: "Joint contractures, mild" EXACT [] synonym: "mild joint contractures" EXACT [] xref: UMLS:C0009917 xref: UMLS:C0009918 xref: UMLS:C0022417 xref: UMLS:C0333068 xref: UMLS:C0392905 xref: UMLS:C0547040 xref: UMLS:C1836379 is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001373 name: Joint dislocation namespace: medical_genetics alt_id: HP:0002772 def: "Displacement or malalignment of joints." [HPO:curators] synonym: "Dislocations" EXACT [] synonym: "Recurrent joint dislocations" EXACT [] xref: UMLS:C0012691 xref: UMLS:C0158100 is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001374 name: Congenital hip dislocation namespace: medical_genetics 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: UMLS:C0000768 xref: UMLS:C0009701 xref: UMLS:C0019552 xref: UMLS:C0019555 xref: UMLS:C0022122 is_a: HP:0002827 ! Dislocated hips [Term] id: HP:0001376 name: Decreased mobility of joints namespace: medical_genetics synonym: "Decreased joint mobility" EXACT [] synonym: "Limitation of joint mobility" EXACT [] synonym: "Limited joint mobility" EXACT [] synonym: "Limited joint motion" EXACT [] xref: UMLS:C0022417 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0392905 xref: UMLS:C0425245 xref: UMLS:C0449295 xref: UMLS:C0449580 xref: UMLS:C1820723 xref: UMLS:C1839251 xref: UMLS:C1856088 xref: UMLS:C1857108 is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001377 name: Limited elbow extension namespace: medical_genetics 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:C0013769 xref: UMLS:C0013770 xref: UMLS:C0231448 xref: UMLS:C0439801 xref: UMLS:C0449295 xref: UMLS:C1305417 xref: UMLS:C1843679 xref: UMLS:C1849017 xref: UMLS:C1858037 xref: UMLS:C1862503 xref: UMLS:C1865003 xref: UMLS:C1880641 is_a: HP:0001376 ! Decreased mobility of joints is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0001379 name: Degenerative joint disease namespace: medical_genetics xref: UMLS:C0029408 is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001380 name: Ligamentous laxity namespace: medical_genetics synonym: "Joint ligamentous laxity" EXACT [] xref: UMLS:C1850677 xref: UMLS:C1855543 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0001381 name: Joint contractures late namespace: medical_genetics xref: UMLS:C0009918 xref: UMLS:C0205087 is_a: HP:0001371 ! Contractures [Term] id: HP:0001382 name: Joint hypermobility namespace: medical_genetics alt_id: HP:0001378 def: "The ability of a joint to move beyond its normal range of motion." [HPO:curators] synonym: "Extensible joints" EXACT [] synonym: "Hyperextensible joints" EXACT [] synonym: "Increased mobility of joints" EXACT [] synonym: "Joint hyperextensibility" EXACT [] xref: UMLS:C0022417 xref: UMLS:C0086437 xref: UMLS:C0205217 xref: UMLS:C0392905 xref: UMLS:C0425245 xref: UMLS:C0442805 xref: UMLS:C0449580 xref: UMLS:C1843500 xref: UMLS:C1844820 xref: UMLS:C1857631 is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001384 name: Abnormality of the hip joint namespace: medical_genetics def: "An abnormality of the `hip joint` (FMA:35178)." [HPO:probinson] synonym: "Abnormality of the hip joints" RELATED [] xref: UMLS:C0000768 xref: UMLS:C0019558 xref: UMLS:C1704258 is_a: HP:0003272 ! Abnormality of the hip is_a: HP:0100491 ! Abnormality of the joints of the lower limbs [Term] id: HP:0001385 name: Hip dysplasia namespace: medical_genetics def: "The presence of `developmental dysplasia` (MPATH:64) of the `hip` (FMA:24964)." [HPO:probinson] xref: UMLS:C1328407 is_a: HP:0001384 ! Abnormality of the hip joint is_a: HP:0003272 ! Abnormality of the hip [Term] id: HP:0001386 name: Joint swelling namespace: medical_genetics xref: UMLS:C0152031 is_a: HP:0000969 ! Edema is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001387 name: Joint stiffness namespace: medical_genetics alt_id: HP:0002775 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:curators] synonym: "Joint stiffness (hands, shoulder, elbows, knees, and ankles)" EXACT [] synonym: "Stiff joints" EXACT [] xref: UMLS:C0003086 xref: UMLS:C0013769 xref: UMLS:C0018563 xref: UMLS:C0022742 xref: UMLS:C0037004 xref: UMLS:C0162298 xref: UMLS:C1283792 is_a: HP:0001376 ! Decreased mobility of joints [Term] id: HP:0001388 name: Joint laxity namespace: medical_genetics alt_id: HP:0001383 synonym: "Lax joints" EXACT [] synonym: "Loose-jointedness" EXACT [] synonym: "Loosejointedness" EXACT [] xref: UMLS:C0022417 xref: UMLS:C0086437 xref: UMLS:C0205407 xref: UMLS:C0392905 xref: UMLS:C1269611 xref: UMLS:C1537528 xref: UMLS:C1706309 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0001389 name: Severe arthrogryposis namespace: medical_genetics xref: UMLS:C0003886 xref: UMLS:C0205082 xref: UMLS:C1519275 is_a: HP:0002804 ! Arthrogryposis multiplex congenita [Term] id: HP:0001391 name: Hemarthroses namespace: medical_genetics synonym: "Hemarthrosis" EXACT [] xref: UMLS:C0018924 is_a: HP:0005261 ! Joint hemorrhage [Term] id: HP:0001392 name: Abnormality of the liver namespace: medical_genetics def: "An abnormality of the `liver` (FMA:7197)." [HPO:probinson] synonym: "Liver abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0023884 xref: UMLS:C1278929 xref: UMLS:C1704258 xref: UMLS:C2346688 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001394 name: Cirrhosis namespace: medical_genetics def: "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." [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 [] xref: UMLS:C0023890 xref: UMLS:C1623038 is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001395 name: Hepatic fibrosis namespace: medical_genetics def: "The presence of `fibrosis` (MPATH:181) of the `liver` (FMA:7197) tissue." [HPO:probinson] xref: UMLS:C0239946 is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001396 name: Cholestasis namespace: medical_genetics xref: UMLS:C0008370 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0001397 name: Hepatic steatosis namespace: medical_genetics alt_id: HP:0002252 def: "The presence of `steatosis` (MPATH:622) in the `liver` (FMA:7197)." [eMedicine:175472, HPO:probinson] synonym: "Fatty infiltration of liver" EXACT [] synonym: "Fatty liver" EXACT [] synonym: "Liver steatosis" EXACT [] synonym: "Steatosis" EXACT [] xref: UMLS:C0011164 xref: UMLS:C0015695 xref: UMLS:C0023884 xref: UMLS:C0152254 xref: UMLS:C0333575 xref: UMLS:C1278929 xref: UMLS:C1880269 xref: UMLS:C2346688 is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001398 name: Mild hepatomegaly namespace: medical_genetics def: "A `mild` (PATO:0000394) form of `increased size` (PATO:0000586) of the `liver` (FMA:7197)." [HPO:probinson] xref: UMLS:C1865189 is_a: HP:0002240 ! Hepatomegaly [Term] id: HP:0001399 name: Hepatic failure namespace: medical_genetics synonym: "Liver failure" EXACT [] xref: UMLS:C0085605 is_a: HP:0001410 ! Decreased liver function [Term] id: HP:0001400 name: Hepatic abscesses due to immunodeficiency namespace: medical_genetics xref: UMLS:C0021051 xref: UMLS:C0023885 is_a: HP:0100523 ! Liver abscess [Term] id: HP:0001401 name: Intrahepatic biliary dysgenesis namespace: medical_genetics xref: UMLS:C1859235 is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct [Term] id: HP:0001402 name: Hepatocellular carcinoma namespace: medical_genetics alt_id: HP:0002899 alt_id: HP:0003007 alt_id: HP:0006750 def: "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." [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: UMLS:C0019204 xref: UMLS:C0021149 xref: UMLS:C0205217 xref: UMLS:C0220856 xref: UMLS:C0442805 xref: UMLS:C1512411 xref: UMLS:C1862761 is_a: HP:0002896 ! Neoplasm of the liver [Term] id: HP:0001403 name: Macrovesicular hepatic steatosis namespace: medical_genetics def: "A form of `hepatic steatosis` (HP:0001397) characterized by the presence of large, lipid-laden vesicles in the affected hepatocytes." [HPO:probinson] synonym: "Macrovesicular steatosis" EXACT [] xref: UMLS:C1837256 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0001404 name: Hepatocellular necrosis namespace: medical_genetics synonym: "Hepatocellular loss" EXACT [] xref: UMLS:C0151798 xref: UMLS:C1855038 is_a: HP:0002605 ! Hepatic necrosis [Term] id: HP:0001405 name: Periportal fibrosis namespace: medical_genetics def: "The presence of `fibrosis` (MPATH:181) affecting the `interlobular stroma of liver` (FMAID:17525)." [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 is_a: HP:0001395 ! Hepatic fibrosis [Term] id: HP:0001406 name: Intrahepatic cholestasis namespace: medical_genetics xref: UMLS:C0008372 is_a: HP:0001396 ! Cholestasis [Term] id: HP:0001407 name: Hepatic cysts namespace: medical_genetics xref: UMLS:C0267834 is_a: HP:0006706 ! Cystic liver disease [Term] id: HP:0001408 name: Bile duct proliferation namespace: medical_genetics def: "Proliferative changes of the `bile ducts` (FMA:9706)." [HPO:probinson] synonym: "Proliferation of bile canaliculi" EXACT [] xref: UMLS:C0005393 xref: UMLS:C0267818 xref: UMLS:C0334094 is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0001409 name: Portal hypertension namespace: medical_genetics def: "`Increased pressure` (PATO:0001576) in the `portal vein` (FMA:66645)." [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: UMLS:C0020541 is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0001410 name: Decreased liver function namespace: medical_genetics xref: UMLS:C0232744 is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001411 name: Abnormal liver function tests namespace: medical_genetics def: "This term refers to abnormalities observed using the standard clinical blood tests for liver function, which generally measure albumin, alanine transaminase (ALT, also known as serum glutamic pyruvate transaminase, SGPT), aspartate transaminase (AST, also known as serum glutamic oxaloacetic transaminase (SGOT), total and direct bilirubin, and gamma glutamyl transpeptidase (GGT)." [HPO:curators] synonym: "Abnormal liver function" EXACT [] xref: UMLS:C0086565 xref: UMLS:C0151766 is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001412 name: Enteroviral hepatitis namespace: medical_genetics xref: UMLS:C1843995 is_a: HP:0006562 ! Viral hepatitis [Term] id: HP:0001413 name: Micronodular cirrhosis namespace: medical_genetics def: "A type of `cirrhosis` (HP:0001394) 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. synonym: "Biopsy shows micronodular cirrhosis" EXACT [] xref: UMLS:C0005558 xref: UMLS:C0220797 xref: UMLS:C0267812 xref: UMLS:C1547282 is_a: HP:0001394 ! Cirrhosis [Term] id: HP:0001414 name: Microvesicular hepatic steatosis namespace: medical_genetics def: "A form of `hepatic steatosis` (HP:0001397) characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes." [HPO:probinson] synonym: "Biopsy shows microvesicular steatosis" EXACT [] synonym: "Microvesicular steatosis" EXACT [] xref: UMLS:C0005558 xref: UMLS:C0015695 xref: UMLS:C0205054 xref: UMLS:C0220797 xref: UMLS:C1547282 xref: UMLS:C1850415 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0001417 name: X-linked inheritance namespace: medical_genetics 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 [] xref: UMLS:C0241764 is_a: HP:0010985 ! Gonosomal inheritance [Term] id: HP:0001419 name: X-linked recessive inheritance namespace: medical_genetics 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] xref: UMLS:C0241764 is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001420 name: Isolated cases namespace: medical_genetics xref: UMLS:C1853237 is_a: HP:0003745 ! Sporadic [Term] id: HP:0001421 name: Abnormality of the musculature of the hand namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0018563 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704258 xref: UMLS:C1995013 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:0001422 name: Dwarfism, 'low birth weight' type namespace: medical_genetics synonym: "Low-birth-weight dwarfism" EXACT [] xref: UMLS:C0013336 xref: UMLS:C0024032 xref: UMLS:C0332307 xref: UMLS:C1547052 xref: UMLS:C1552651 xref: UMLS:C1849011 is_a: HP:0001516 ! Dwarfism is_a: HP:0001518 ! Low birth weight [Term] id: HP:0001423 name: X-linked dominant inheritance namespace: medical_genetics 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] xref: UMLS:C0241764 xref: UMLS:C0242538 xref: UMLS:C0728826 xref: UMLS:C1527180 xref: UMLS:C1847879 is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001424 name: Cachectic dwarfism namespace: medical_genetics xref: UMLS:C1857642 is_a: HP:0001516 ! Dwarfism [Term] id: HP:0001425 name: Heterogeneous namespace: medical_genetics synonym: "Genetic heterogeneity" EXACT [] synonym: "Heterogeneity" EXACT [] synonym: "Heterogeneity." EXACT [] synonym: "Heterogeneous." EXACT [] xref: UMLS:C0019409 xref: UMLS:C0242960 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001426 name: Multifactorial inheritance namespace: medical_genetics 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: UMLS:C1837655 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001427 name: Mitochondrial inheritance namespace: medical_genetics alt_id: HP:0001431 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 almost 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:curators] synonym: "Mitochondrial" EXACT [] xref: UMLS:C0026237 xref: UMLS:C0521451 xref: UMLS:C0887941 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001428 name: Somatic mutation namespace: medical_genetics xref: UMLS:C0544886 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001430 name: Abnormality of the calf musculature namespace: medical_genetics alt_id: HP:0004300 synonym: "Abnormality of calf musculature" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0230445 xref: UMLS:C1305418 xref: UMLS:C1704258 xref: UMLS:C1995013 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0002981 ! Abnormality of the calf created_by: peter creation_date: 2008-04-07T10:18:00Z [Term] id: HP:0001432 name: Early death namespace: medical_genetics alt_id: HP:0004149 synonym: "Early lethal" EXACT [] xref: UMLS:C1836407 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0001433 name: Hepatosplenomegaly namespace: medical_genetics xref: UMLS:C0019214 is_a: HP:0001744 ! Splenomegaly is_a: HP:0002240 ! Hepatomegaly created_by: peter creation_date: 2008-02-20T10:51:00Z [Term] id: HP:0001435 name: Abnormality of the shoulder girdle musculature namespace: medical_genetics alt_id: HP:0004301 synonym: "Abnormality of shoulder musculature" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0037004 xref: UMLS:C0427245 xref: UMLS:C1279862 xref: UMLS:C1283792 xref: UMLS:C1704258 xref: UMLS:C1995013 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0003043 ! Abnormality of the shoulder created_by: peter creation_date: 2008-04-07T10:19:00Z [Term] id: HP:0001436 name: Abnormality of the foot musculature namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0923505 xref: UMLS:C1704258 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0001760 ! Abnormality of the feet created_by: peter creation_date: 2008-04-07T10:21:00Z [Term] id: HP:0001437 name: Abnormality of the musculature of the lower limbs namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0023216 xref: UMLS:C1704258 xref: UMLS:C1995013 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 namespace: medical_genetics def: "Abnormality of the `abdomen` (FMA:9577) ('belly'), that is, the part of the body between the pelvis and the thorax." [HPO:probinson] synonym: "Abdomen abnormality" RELATED [] xref: UMLS:C0000726 xref: UMLS:C0000768 xref: UMLS:C0230168 xref: UMLS:C1281594 xref: UMLS:C1704258 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001439 name: Abnormality of the thigh namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0039866 xref: UMLS:C1281586 xref: UMLS:C1704258 is_a: HP:0002814 ! Abnormality of the lower limb created_by: peter creation_date: 2008-04-07T10:26:00Z [Term] id: HP:0001440 name: Synostosis involving metatarsal bones namespace: medical_genetics alt_id: HP:0004705 alt_id: HP:0008098 synonym: "Fusion of metatarsals" EXACT [] synonym: "Metatarsal synostosis" EXACT [] xref: UMLS:C0025584 xref: UMLS:C0039093 xref: UMLS:C0332466 xref: UMLS:C0391889 xref: UMLS:C1293131 xref: UMLS:C1314939 xref: UMLS:C1368355 xref: UMLS:C1834165 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0039866 xref: UMLS:C1281586 xref: UMLS:C1704258 xref: UMLS:C1995013 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0001439 ! Abnormality of the thigh created_by: peter creation_date: 2008-04-07T10:27:00Z [Term] id: HP:0001442 name: Somatic mosaicism namespace: medical_genetics 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1550262 xref: UMLS:C1704258 xref: UMLS:C1995013 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 namespace: medical_genetics xref: UMLS:C0007634 xref: UMLS:C0026882 xref: UMLS:C0443147 xref: UMLS:C0544886 xref: UMLS:C0737240 xref: UMLS:C1269647 xref: UMLS:C1704653 xref: UMLS:C1705285 xref: UMLS:C1948049 is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001445 name: Abnormality of the hip-girdle musculature namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0453903 xref: UMLS:C0923514 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1140618 xref: UMLS:C1704258 xref: UMLS:C1995013 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 namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0332597 xref: UMLS:C1705960 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 namespace: medical_genetics 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:0001451 name: Autosomal dominant with reduced penetrance namespace: medical_genetics xref: UMLS:C0443147 xref: UMLS:C1842571 is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001452 name: Autosomal dominant contiguous gene syndrome namespace: medical_genetics xref: UMLS:C0443147 xref: UMLS:C1855496 is_a: HP:0000006 ! Autosomal dominant inheritance is_a: HP:0001466 ! Contiguous gene syndrome [Term] id: HP:0001454 name: Abnormality of the upper arm namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0446516 xref: UMLS:C1269612 xref: UMLS:C1704258 is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2008-04-07T10:41:00Z [Term] id: HP:0001455 name: Usually autosomal dominant namespace: medical_genetics xref: UMLS:C0443147 is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001457 name: Abnormality of the musculature of the upper arm namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0446516 xref: UMLS:C1269612 xref: UMLS:C1704258 xref: UMLS:C1995013 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:0001458 name: Mitochondrial form namespace: medical_genetics xref: UMLS:C0013058 xref: UMLS:C0026237 xref: UMLS:C0348078 xref: UMLS:C0376315 xref: UMLS:C0521451 xref: UMLS:C1522492 is_a: HP:0001427 ! Mitochondrial inheritance [Term] id: HP:0001459 name: 1-3 toe syndactyly namespace: medical_genetics def: "`Syndactyly` (HP:0001159) with fusion of toes one to three." [HPO:sdoelken] xref: UMLS:C0265660 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0001460 name: Aplasia/Hypoplasia involving the musculature namespace: medical_genetics def: "Absence or underdevelopment of the musculature." [HPO:curators] xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1314939 xref: UMLS:C1995013 is_a: HP:0003011 ! Abnormality of musculature created_by: peter creation_date: 2008-04-07T10:46:00Z [Term] id: HP:0001463 name: Autosomal dominant with variable expression and incomplete penetrance namespace: medical_genetics xref: UMLS:C0443147 xref: UMLS:C1836598 xref: UMLS:C1868500 is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001464 name: Aplasia/Hypoplasia involving the shoulder musculature namespace: medical_genetics def: "Absence or underdevelopment of the muscles of the shoulder." [HPO:curators] xref: UMLS:C0037004 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1283792 xref: UMLS:C1314939 xref: UMLS:C1995013 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 namespace: medical_genetics xref: UMLS:C0026846 xref: UMLS:C0037004 xref: UMLS:C1283792 xref: UMLS:C1314939 xref: UMLS:C1995013 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 namespace: medical_genetics xref: UMLS:C1855496 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001467 name: Aplasia/Hypoplasia involving the musculature of the upper limbs namespace: medical_genetics def: "Absence or underdevelopment of the musculature of the upper limbs." [HPO:curators] xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1140618 xref: UMLS:C1314939 xref: UMLS:C1995013 is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0001460 ! Aplasia/Hypoplasia involving the musculature 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 namespace: medical_genetics def: "Absence or underdevelopment of the muscles of the upper arm." [HPO:curators] xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0446516 xref: UMLS:C0543481 xref: UMLS:C1269612 xref: UMLS:C1314939 xref: UMLS:C1995013 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0030797 xref: UMLS:C1279864 xref: UMLS:C1704258 xref: UMLS:C1995013 is_a: HP:0002644 ! Abnormality of the pelvis created_by: peter creation_date: 2008-04-07T10:55:00Z [Term] id: HP:0001470 name: Sex-limited autosomal dominant namespace: medical_genetics xref: UMLS:C0036864 xref: UMLS:C0439801 xref: UMLS:C0443147 xref: UMLS:C1314687 xref: UMLS:C1522384 is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001471 name: Aplasia/Hypoplasia of the musculature of the pelvis namespace: medical_genetics xref: UMLS:C0030797 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1279864 xref: UMLS:C1995013 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 namespace: medical_genetics xref: UMLS:C0012655 xref: UMLS:C0015576 xref: UMLS:C0220898 xref: UMLS:C0241888 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001473 name: Osteolysis involving metatarsal bones namespace: medical_genetics alt_id: HP:0001866 synonym: "Metatarsal osteolysis" EXACT [] xref: UMLS:C0025584 xref: UMLS:C0029435 xref: UMLS:C1314939 xref: UMLS:C1854614 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 namespace: medical_genetics xref: UMLS:C1849263 is_a: HP:0000782 ! Abnormality of the scapulae [Term] id: HP:0001475 name: Male-limited autosomal dominant namespace: medical_genetics xref: UMLS:C0024554 xref: UMLS:C0439801 xref: UMLS:C0443147 xref: UMLS:C1706180 xref: UMLS:C1706428 xref: UMLS:C1706429 is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001476 name: Delayed closure of the anterior fontanelle namespace: medical_genetics def: "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:curators] 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:C0185003 xref: UMLS:C0205087 xref: UMLS:C0205322 xref: UMLS:C0205421 xref: UMLS:C0224549 xref: UMLS:C1305081 xref: UMLS:C1521802 xref: UMLS:C1837886 xref: UMLS:C1855653 is_a: HP:0000236 ! Abnormality of the anterior fontanelle is_a: HP:0000270 ! Delayed closure of fontanelles is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0001477 name: Compensatory chin elevation namespace: medical_genetics synonym: "Compensatory head tilt/chin elevation" EXACT [] xref: UMLS:C0008114 xref: UMLS:C0231186 xref: UMLS:C0439775 xref: UMLS:C0702240 xref: UMLS:C1284862 xref: UMLS:C1299932 xref: UMLS:C1846911 xref: UMLS:C2226982 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0001478 name: Histological abnormality of the skin namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0205462 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C1704258 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0001479 name: Electron microscopic abnormality of the skin namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0026019 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C1704258 is_a: HP:0001478 ! Histological abnormality of the skin [Term] id: HP:0001480 name: Freckling namespace: medical_genetics xref: UMLS:C0016689 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001482 name: subcutaneous nodules namespace: medical_genetics xref: UMLS:C0151811 is_a: HP:0200036 ! skin nodules [Term] id: HP:0001483 name: Eye poking namespace: medical_genetics xref: UMLS:C0233593 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0001485 name: Anophthalmia, clinical namespace: medical_genetics xref: UMLS:C0003119 xref: UMLS:C0205210 is_a: HP:0000528 ! Anophthalmia [Term] id: HP:0001486 name: Epiphora namespace: medical_genetics xref: UMLS:C0152227 xref: UMLS:C1024522 xref: UMLS:C2111105 is_a: HP:0000632 ! Lacrimation abnormality [Term] id: HP:0001487 name: Hypopigmented fundi namespace: medical_genetics synonym: "Hypopigmented ocular fundus" EXACT [] xref: UMLS:C1299003 xref: UMLS:C1856885 is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0001488 name: Bilateral ptosis namespace: medical_genetics xref: UMLS:C1865916 is_a: HP:0000508 ! Ptosis [Term] id: HP:0001489 name: Vitreous detachment namespace: medical_genetics xref: UMLS:C0042907 is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0001491 name: Congenital fibrosis of extraocular muscles namespace: medical_genetics synonym: "Congenital fibrosis of extraocular muscles (CFEOM)" EXACT [] synonym: "Congenital fibrosis of the extraocular muscles" EXACT [] xref: UMLS:C0009678 xref: UMLS:C0016059 xref: UMLS:C0028863 xref: UMLS:C1744681 is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0001492 name: Axenfeld anomaly namespace: medical_genetics 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] xref: UMLS:C0266548 is_a: HP:0000525 ! Abnormality of the iris [Term] id: HP:0001493 name: Falciform retinal folds namespace: medical_genetics synonym: "Falciform retinal fold" EXACT [] xref: UMLS:C1866177 is_a: HP:0008013 ! Congenital retinal folds [Term] id: HP:0001494 name: Cranial dystonia namespace: medical_genetics def: "A type of `dystonia` (HP:0001332) that affects the muscles of the head, face, and neck." [HPO:probinson] xref: UMLS:C1843266 is_a: HP:0001332 ! Dystonia [Term] id: HP:0001495 name: Carpal osteolysis namespace: medical_genetics def: "Osteolysis affecting carpal bones." [HPO:curators] synonym: "Carpal bone osteolysis" EXACT [] xref: UMLS:C1833734 xref: UMLS:C1854608 is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0002797 ! Osteolysis is_a: HP:0010660 ! Abnormality of the mineralisation and ossification of bones of the hand [Term] id: HP:0001497 name: Short, broad fingers namespace: medical_genetics xref: UMLS:C0239594 xref: UMLS:C0332464 xref: UMLS:C1806781 xref: UMLS:C1844906 xref: UMLS:C2350002 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001498 name: Carpal bone hypoplasia namespace: medical_genetics alt_id: HP:0001209 alt_id: HP:0006117 alt_id: HP:0006130 synonym: "Hypoplasia of carpal bones" EXACT [] synonym: "Hypoplastic carpal bones" EXACT [] synonym: "Small carpal bones" EXACT [] synonym: "Small carpals" EXACT [] xref: UMLS:C0007285 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1855184 xref: UMLS:C1863749 xref: UMLS:C1866702 xref: UMLS:C1873508 is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones [Term] id: HP:0001500 name: Broad fingers namespace: medical_genetics xref: UMLS:C1844906 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001501 name: 6 metacarpals namespace: medical_genetics xref: UMLS:C0025526 is_a: HP:0005917 ! Supernumerary metacarpal bones [Term] id: HP:0001502 name: Long, thin hands namespace: medical_genetics xref: UMLS:C0205168 xref: UMLS:C1970825 is_a: HP:0001176 ! Large hands is_a: HP:0004283 ! Narrow hand [Term] id: HP:0001504 name: Metacarpal osteolysis namespace: medical_genetics synonym: "Metacarpals osteolysis" EXACT [] xref: UMLS:C1854610 is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0001507 name: Growth abnormality namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0018270 xref: UMLS:C0220844 xref: UMLS:C1457898 xref: UMLS:C1621966 xref: UMLS:C1704258 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001508 name: Failure to thrive namespace: medical_genetics 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). xref: UMLS:C0015544 xref: UMLS:C2364119 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0001510 name: Growth retardation namespace: medical_genetics alt_id: HP:0001434 alt_id: HP:0001512 alt_id: HP:0001514 alt_id: HP:0001532 alt_id: HP:0008847 comment: Poor or abnormally slow gains in weight or height in a child. synonym: "Delayed growth" EXACT [] synonym: "Growth deficiency" EXACT [] synonym: "Growth delay" EXACT [] synonym: "Growth failure, postnatal" EXACT [] synonym: "Physical retardation" EXACT [] synonym: "Poor growth" EXACT [] synonym: "Poor postnatal growth" EXACT [] synonym: "Post natal growth retardation" EXACT [] synonym: "Postnatal growth deficiency" EXACT [] synonym: "Postnatal growth delay" EXACT [] synonym: "Postnatal growth retardation" EXACT [] synonym: "Postnatal onset growth deficiency" EXACT [] synonym: "Postnatal onset growth retardation" EXACT [] synonym: "Retarded growth" EXACT [] xref: UMLS:C0151686 xref: UMLS:C0205421 xref: UMLS:C0243109 xref: UMLS:C0443281 xref: UMLS:C0456070 xref: UMLS:C0476243 xref: UMLS:C0878787 xref: UMLS:C1837385 xref: UMLS:C1842086 xref: UMLS:C1842323 xref: UMLS:C1852375 xref: UMLS:C1855776 xref: UMLS:C1857534 xref: UMLS:C1865007 xref: UMLS:C1867740 is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0001511 name: Intrauterine growth restriction namespace: medical_genetics alt_id: HP:0008862 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: "Intrauterine growth failure" EXACT [] synonym: "Intrauterine growth retardation" EXACT [] synonym: "Intrauterine growth retardation (IUGR)" EXACT [] synonym: "Intrauterine growth retardation, IUGR" EXACT [] synonym: "Intrauterine retardation" EXACT [] synonym: "Small for gestational age infant" EXACT [] xref: UMLS:C0015934 xref: UMLS:C0017504 xref: UMLS:C0021270 xref: UMLS:C0521111 xref: UMLS:C0694756 xref: UMLS:C0700321 xref: UMLS:C1855652 xref: UMLS:C2053598 is_a: HP:0001515 ! Prenatal growth deficiency [Term] id: HP:0001513 name: Obesity namespace: medical_genetics def: "A status with 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, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY)." [MeSH:D009765] xref: UMLS:C0028754 xref: UMLS:C1963185 is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001515 name: Prenatal growth deficiency namespace: medical_genetics synonym: "Prenatal growth failure" EXACT [] synonym: "Prenatal growth retardation" EXACT [] synonym: "Prenatal onset growth retardation" EXACT [] synonym: "Prenatal-onset growth retardation" EXACT [] xref: UMLS:C0033052 xref: UMLS:C0678804 xref: UMLS:C0878787 xref: UMLS:C1836934 xref: UMLS:C1844889 xref: UMLS:C1853481 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0001516 name: Dwarfism namespace: medical_genetics def: "Pronounced `short stature` (HP:0004322) characterized by an adult height under 4 feet 10 inches (147 cm)." [HPO:probinson] xref: UMLS:C0013336 is_a: HP:0004322 ! Short stature [Term] id: HP:0001517 name: Growth failure namespace: medical_genetics xref: UMLS:C0878787 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0001518 name: Low birth weight namespace: medical_genetics synonym: "Small for gestational age" EXACT [] xref: UMLS:C0017504 xref: UMLS:C0024032 xref: UMLS:C0700321 xref: UMLS:C2053598 is_a: HP:0001823 ! Low weight [Term] id: HP:0001519 name: Dolichostenomelia namespace: medical_genetics alt_id: HP:0003511 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." [HPO:curators] synonym: "Marfanoid body habitus" EXACT [] synonym: "Marfanoid habitus" EXACT [] xref: UMLS:C0003706 xref: UMLS:C1836996 xref: UMLS:C1839796 is_a: HP:0000098 ! Tall stature is_a: HP:0001533 ! Asthenic habitus is_a: HP:0003061 ! Gracile long bones [Term] id: HP:0001520 name: Macrosomia namespace: medical_genetics 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: "Large for gestational age" EXACT [] xref: UMLS:C0005612 xref: UMLS:C0017504 xref: UMLS:C0549177 xref: UMLS:C1264641 xref: UMLS:C2053598 is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001521 name: Severe growth retardation namespace: medical_genetics synonym: "Marked growth retardation" EXACT [] xref: UMLS:C0151686 xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1854927 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0001522 name: Death in infancy namespace: medical_genetics alt_id: HP:0003816 alt_id: HP:0003818 synonym: "Death in early infancy" EXACT [] synonym: "Infantile death" EXACT [] synonym: "Lethal in infancy" EXACT [] xref: UMLS:C0011065 xref: UMLS:C0231330 xref: UMLS:C1306577 is_a: HP:0003827 ! Death in neonatal period or infancy [Term] id: HP:0001524 name: Short trunk namespace: medical_genetics def: "Decreased extent of the trunk (thorax and abdomen)." [HPO:curators] xref: UMLS:C0521527 is_a: HP:0004322 ! Short stature is_a: HP:0009121 ! Abnormality of the axial skeleton [Term] id: HP:0001525 name: Severe failure to thrive namespace: medical_genetics synonym: "Marked failure to thrive" EXACT [] xref: UMLS:C1851432 xref: UMLS:C1855514 is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001528 name: Hemihypertrophy namespace: medical_genetics xref: UMLS:C0332890 is_a: HP:0100555 ! Asymmetric growth [Term] id: HP:0001530 name: Growth retardation, mild namespace: medical_genetics synonym: "Moderate growth retardation" EXACT [] xref: UMLS:C0151686 xref: UMLS:C0205081 xref: UMLS:C0547040 xref: UMLS:C1881878 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0001531 name: Failure to thrive in infancy namespace: medical_genetics xref: UMLS:C0015544 xref: UMLS:C0231330 xref: UMLS:C2364119 is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001533 name: Asthenic habitus namespace: medical_genetics alt_id: HP:0001529 def: "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:curators] comment: Slender, long-limbed habitus. synonym: "Slender build" EXACT [] xref: UMLS:C1850573 xref: UMLS:C1861200 is_a: HP:0000098 ! Tall stature is_a: HP:0010718 ! Abnormality of habitus [Term] id: HP:0001534 name: Genitourinary atresia namespace: medical_genetics xref: UMLS:C0042066 xref: UMLS:C0243066 xref: UMLS:C2119047 is_a: HP:0000148 ! Vaginal atresia is_a: HP:0000809 ! Urinary tract atresia created_by: peter creation_date: 2008-02-27T04:00:00Z [Term] id: HP:0001535 name: Poor weight gain namespace: medical_genetics xref: UMLS:C0231246 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001536 name: Short-limb dwarfism identifiable at birth namespace: medical_genetics synonym: "Short limb dwarfism recognizable at birth" EXACT [] synonym: "Short-limbed dwarfism identifiable at birth" EXACT [] xref: UMLS:C0005615 xref: UMLS:C0205396 xref: UMLS:C0524637 xref: UMLS:C1550722 xref: UMLS:C1705683 xref: UMLS:C1843097 xref: UMLS:C1855821 is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0001537 name: Umbilical hernia namespace: medical_genetics def: "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] synonym: "Umbilical hernias" EXACT [] xref: UMLS:C0019322 xref: UMLS:C1306503 is_a: HP:0001551 ! Abnormality of the umbilicus is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0001538 name: Protuberant abdomen namespace: medical_genetics def: "A thrusting or bulging out of the abdomen." [HPO:curators] synonym: "Abdominal protuberance" EXACT [] xref: UMLS:C1849208 xref: UMLS:C1854928 is_a: HP:0003270 ! Abdominal distention [Term] id: HP:0001539 name: Omphalocele namespace: medical_genetics def: "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." [HPO:probinson] xref: UMLS:C0795690 is_a: HP:0010866 ! Abdominal wall defect [Term] id: HP:0001540 name: Diastasis recti namespace: medical_genetics 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. xref: UMLS:C0221766 is_a: HP:0010991 ! Abnormality of the abdominal musculature [Term] id: HP:0001541 name: Ascites namespace: medical_genetics xref: UMLS:C0003962 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001543 name: Gastroschisis namespace: medical_genetics def: "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." [HPO:probinson] xref: UMLS:C0265706 is_a: HP:0010866 ! Abdominal wall defect [Term] id: HP:0001544 name: Prominent umbilicus namespace: medical_genetics def: "Abnormally prominent umbilicus (belly button)." [HPO:curators] xref: UMLS:C1837795 is_a: HP:0001551 ! Abnormality of the umbilicus [Term] id: HP:0001545 name: Anteriorly placed anus namespace: medical_genetics def: "Anterior malposition of the anus." [HPO:curators] synonym: "Anteriorly displaced anus" EXACT [] xref: UMLS:C0003461 xref: UMLS:C0012727 xref: UMLS:C0205094 xref: UMLS:C0442504 xref: UMLS:C1278927 is_a: HP:0004397 ! Ectopic anus [Term] id: HP:0001546 name: Protuberant abdomen due to muscle weakness namespace: medical_genetics def: "Protuberance of the abdomen due to `abdominal wall muscle weakness` (HP:0009023)." [HPO:probinson] xref: UMLS:C0151786 xref: UMLS:C1849208 is_a: HP:0001324 ! Muscle weakness is_a: HP:0009023 ! Abdominal wall muscle weakness [Term] id: HP:0001547 name: Abnormality of the morphology or size of the rib cage namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0222762 xref: UMLS:C0332437 xref: UMLS:C0456389 xref: UMLS:C0543482 xref: UMLS:C0700329 xref: UMLS:C0700619 xref: UMLS:C1704258 is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0001548 name: Overgrowth namespace: medical_genetics def: "Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference." [HPO:probinson] xref: UMLS:C1849265 is_a: HP:0000098 ! Tall stature [Term] id: HP:0001549 name: Abnormality of the ileum namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0020885 xref: UMLS:C1278923 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Abnormality of the `umbilicus` (FMA:61584)." [HPO:probinson] comment: The umbilicus is also known as the belly button or the navel. synonym: "Abnormal umbilicus" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0041638 xref: UMLS:C1040830 xref: UMLS:C1280744 xref: UMLS:C1704258 xref: UMLS:C1849338 is_a: HP:0004298 ! Abnormality of the abdominal wall [Term] id: HP:0001552 name: Barrel-shaped chest namespace: medical_genetics alt_id: HP:0000781 alt_id: HP:0001553 synonym: "Barrel chest" EXACT [] synonym: "Broad chest" EXACT [] xref: UMLS:C0264172 xref: UMLS:C1839248 xref: UMLS:C1839322 is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0001555 name: Asymmetry of the thorax namespace: medical_genetics def: "Lack of symmetry of the thorax." [HPO:curators] synonym: "Asymmetric chest" EXACT [] xref: UMLS:C0332514 xref: UMLS:C0817096 xref: UMLS:C1269614 xref: UMLS:C1456858 xref: UMLS:C1858033 is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0001556 name: Sloping shoulders namespace: medical_genetics synonym: "Down-sloping shoulders" EXACT [] xref: UMLS:C0037004 xref: UMLS:C0443206 xref: UMLS:C1856872 is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0001557 name: Prenatal movement abnormality namespace: medical_genetics 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:C0000768 xref: UMLS:C0026649 xref: UMLS:C0033052 xref: UMLS:C0678804 xref: UMLS:C1704258 xref: UMLS:C1849510 is_a: HP:0001197 ! Abnormality of prenatal development or birth is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001558 name: Decreased fetal movement namespace: medical_genetics alt_id: HP:0001559 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: "Reduced fetal movement" EXACT [] synonym: "Reduced fetal movements" EXACT [] xref: UMLS:C0026649 xref: UMLS:C0042149 xref: UMLS:C0205216 xref: UMLS:C0235659 xref: UMLS:C0239558 xref: UMLS:C0392756 xref: UMLS:C1709305 is_a: HP:0001557 ! Prenatal movement abnormality [Term] id: HP:0001560 name: Abnormality of the amniotic fluid namespace: medical_genetics def: "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0002638 xref: UMLS:C1610731 xref: UMLS:C1704258 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001561 name: Polyhydramnios namespace: medical_genetics 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 [] synonym: "Polyhydramnios pregnancy" EXACT [] xref: UMLS:C0020224 xref: UMLS:C0032961 xref: UMLS:C0425965 is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001562 name: Oligohydramnios namespace: medical_genetics 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: UMLS:C0079924 xref: UMLS:C1849768 is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001563 name: Fetal polyuria namespace: medical_genetics def: "Abnormally increased production of urine by the fetus resulting in `polyhydramnios` (HP:0001561)." [HPO:probinson] xref: UMLS:C1865279 is_a: HP:0001561 ! Polyhydramnios [Term] id: HP:0001564 name: Early tooth loss namespace: medical_genetics xref: UMLS:C1844635 is_a: HP:0006480 ! Premature loss of teeth [Term] id: HP:0001566 name: Widely-spaced upper incisors namespace: medical_genetics alt_id: HP:0000669 alt_id: HP:0001570 alt_id: HP:0006324 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:C0036679 xref: UMLS:C0061928 xref: UMLS:C0086972 xref: UMLS:C0332464 xref: UMLS:C0447273 xref: UMLS:C0687118 xref: UMLS:C1152525 xref: UMLS:C1282910 xref: UMLS:C1419277 xref: UMLS:C1541679 xref: UMLS:C1835762 xref: UMLS:C1839768 xref: UMLS:C1845110 is_a: HP:0000699 ! Diastema is_a: HP:0006304 ! Widely-spaced incisors [Term] id: HP:0001567 name: Primary and secondary teeth affected namespace: medical_genetics xref: UMLS:C0040426 xref: UMLS:C0175668 xref: UMLS:C0205225 xref: UMLS:C0205436 xref: UMLS:C0392760 xref: UMLS:C0439631 xref: UMLS:C1314939 xref: UMLS:C1522484 xref: UMLS:C2239132 is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0001569 name: Malposition of teeth namespace: medical_genetics synonym: "Abnormal dental position" EXACT [] synonym: "Malpositioned teeth" EXACT [] xref: UMLS:C0040426 xref: UMLS:C0155940 xref: UMLS:C0333042 xref: UMLS:C1857523 xref: UMLS:C1881601 xref: UMLS:C2239132 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0001571 name: Multiple impacted teeth namespace: medical_genetics synonym: "Impacted teeth" EXACT [] xref: UMLS:C0040456 xref: UMLS:C1839965 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0001572 name: Macrodontia namespace: medical_genetics def: "Mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth." [pmid:19125428] comment: The standard reference has means and standard deviations by gender [Moyers et al. [1976]]. xref: UMLS:C0266036 is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0001573 name: Single central incisor namespace: medical_genetics def: "The presence of a single, median maxillary incisor, affecting both the `primary maxillary incisor` (FMA:84214) and the `permanent maxillary incisor` (FMA:55712)." [HPO:ibailleulforestier] synonym: "Single median incisor" EXACT [] xref: UMLS:C1860327 is_a: HP:0011064 ! Abnormality of number of incisors [Term] id: HP:0001574 name: Abnormality of the integument namespace: medical_genetics def: "An abnormality of the `integument` (FMA:74657), which consists of the skin and the superficial fascia." [HPO:probinson] comment: Abnormality of skin, hair, or nails. xref: UMLS:C0000768 xref: UMLS:C0037267 xref: UMLS:C1123023 xref: UMLS:C1704258 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001575 name: Mood changes namespace: medical_genetics xref: UMLS:C0085633 is_a: HP:0001296 ! Mood alterations [Term] id: HP:0001578 name: Hypercortisolism namespace: medical_genetics xref: UMLS:C0001622 xref: UMLS:C0010481 is_a: HP:0004316 ! Increased cortisol production [Term] id: HP:0001579 name: ACTH-independent hypercortisolemia namespace: medical_genetics xref: UMLS:C1968852 is_a: HP:0001578 ! Hypercortisolism [Term] id: HP:0001580 name: Pigmented micronodular adrenocortical disease namespace: medical_genetics xref: UMLS:C1968851 is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0001581 name: Recurrent skin infections namespace: medical_genetics alt_id: HP:0007563 def: "Infections of the skin that happen multiple times." [HPO:curators] synonym: "Cutaneous infections" EXACT [] synonym: "Skin infections" EXACT [] xref: UMLS:C0037278 xref: UMLS:C1853193 is_a: HP:0002727 ! Abnormal tendency to infections of the skin [Term] id: HP:0001582 name: Loose, redundant skin namespace: medical_genetics synonym: "Loose redundant skin" EXACT [] synonym: "Sagging, redundant skin" EXACT [] xref: UMLS:C0010495 xref: UMLS:C0205407 xref: UMLS:C0425087 xref: UMLS:C0581342 xref: UMLS:C1313915 xref: UMLS:C1419428 xref: UMLS:C1419805 is_a: HP:0000973 ! Cutis laxa [Term] id: HP:0001583 name: Rotary nystagmus namespace: medical_genetics xref: UMLS:C0240595 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0001584 name: Highly arched eyebrows namespace: medical_genetics synonym: "High, rounded eyebrows" EXACT [] synonym: "High-arched eyebrows" EXACT [] xref: UMLS:C0015420 xref: UMLS:C0205250 xref: UMLS:C0332490 xref: UMLS:C0741204 xref: UMLS:C1299351 xref: UMLS:C1538146 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0002553 ! Arched eyebrows [Term] id: HP:0001586 name: Vesicovaginal fistula namespace: medical_genetics def: "The presence of a `fistula` (MPATH:70) connecting the `urinary bladder` (FMA:15900) to the `vagina` (FMA:19949)." [HPO:probinson] xref: UMLS:C0042582 is_a: HP:0004320 ! Vaginal fistula is_a: HP:0004321 ! Bladder fistula [Term] id: HP:0001587 name: Primary ovarian failure namespace: medical_genetics def: "Malfunctioning of the ovaries such that a girl never begins menstruation." [HPO:probinson] synonym: "Primary ovarian insufficiency" EXACT [] xref: UMLS:C0271606 is_a: HP:0000137 ! Abnormality of the ovary [Term] id: HP:0001588 name: Clinodactyly (4th and 5th fingers) namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0205439 xref: UMLS:C0265610 xref: UMLS:C0549188 is_a: HP:0004209 ! Clinodactyly of the 5th finger [Term] id: HP:0001590 name: Small chest namespace: medical_genetics synonym: "Small thorax" EXACT [] xref: UMLS:C0575483 xref: UMLS:C1837482 is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0001591 name: Bell-shaped chest namespace: medical_genetics synonym: "Bell-shaped thorax" EXACT [] xref: UMLS:C1843692 xref: UMLS:C1865186 is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0001592 name: Selective tooth agenesis namespace: medical_genetics def: "`Agenesis` (MPATH:57) specifically affecting one of the classes `incisor` (FMA:12823), `premolar` (FMA:55637), or `molar` (FMA:55638)." [HPO:ibailleulforestier] xref: UMLS:C1970308 is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0001593 name: Maxillary lateral incisor microdontia namespace: medical_genetics def: "`Decreased size` (PATO:0000587) of the `maxillary permanent incisor` (FMA:55713)." [HPO:ibailleulforestier] xref: UMLS:C0024947 xref: UMLS:C0240340 xref: UMLS:C0447274 xref: UMLS:C1541680 is_a: HP:0000691 ! Microdontia is_a: HP:0011063 ! Abnormality of incisor morphology [Term] id: HP:0001594 name: Pseudoscleroderma namespace: medical_genetics xref: UMLS:C1274865 is_a: HP:0100324 ! Scleroderma [Term] id: HP:0001595 name: Abnormality of the hair namespace: medical_genetics def: "An abnormality of the `hair` (FMA:53667)." [HPO:probinson] synonym: "Hair abnormality" EXACT [] xref: UMLS:C0157733 is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0001596 name: Alopecia namespace: medical_genetics alt_id: HP:0002238 alt_id: HP:0008068 def: "Loss of hair from the head or body." [HPO:curators] synonym: "Hair loss" EXACT [] xref: UMLS:C0002170 is_a: HP:0002115 ! Sparse or absent hair [Term] id: HP:0001597 name: Abnormality of the nail namespace: medical_genetics def: "Abnormality of the `nail` (FMA:54326)." [HPO:probinson] comment: Abnormality of the fingernails and/or toenails. xref: UMLS:C0000768 xref: UMLS:C0027342 xref: UMLS:C1704258 is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0001598 name: Koilonychia namespace: medical_genetics alt_id: HP:0001815 comment: Koilonychia literally means spoon nails. synonym: "Spoon-shaped nails" EXACT [] xref: UMLS:C0221261 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001600 name: Abnormality of the larynx namespace: medical_genetics def: "An abnormality of the `larynx` (FMA:55097)." [HPO:probinson] synonym: "Laryngeal abnormalities" EXACT [] synonym: "Laryngeal anomalies" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0023078 xref: UMLS:C0023081 xref: UMLS:C1278904 xref: UMLS:C1640372 xref: UMLS:C1704258 xref: UMLS:C2137050 is_a: HP:0002087 ! Abnormality of the upper respiratory tract [Term] id: HP:0001601 name: Laryngomalacia namespace: medical_genetics 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: UMLS:C0264303 is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001602 name: Laryngeal stenosis namespace: medical_genetics xref: UMLS:C0023075 is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001603 name: Weakness of the vocal cords namespace: medical_genetics def: "Decreased strength of the `vocal folds` (FMA:55457)." [HPO:probinson] xref: UMLS:C0004093 xref: UMLS:C0042930 xref: UMLS:C1883552 xref: UMLS:C2364118 is_a: HP:0008777 ! Abnormality of the vocal cords [Term] id: HP:0001604 name: Vocal cord paresis namespace: medical_genetics alt_id: HP:0001616 alt_id: HP:0008745 def: "`Decreased strength` (PATO:0001779) of the `vocal folds` (FMA:55457)." [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 [] xref: UMLS:C0019825 xref: UMLS:C0205082 xref: UMLS:C0751576 xref: UMLS:C0868928 xref: UMLS:C1519275 xref: UMLS:C1533148 is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0001603 ! Weakness of the vocal cords is_a: HP:0001609 ! Hoarse voice [Term] id: HP:0001605 name: Vocal cord paralysis namespace: medical_genetics def: "A loss of the ability to move the `vocal folds` (FMA:55457)." [HPO:probinson] xref: UMLS:C0042928 is_a: HP:0001603 ! Weakness of the vocal cords [Term] id: HP:0001606 name: Vocal cord paralysis (caused by tumor impingement) namespace: medical_genetics xref: UMLS:C0015127 xref: UMLS:C0027651 xref: UMLS:C0042928 xref: UMLS:C0678227 xref: UMLS:C1314792 xref: UMLS:C1524003 xref: UMLS:C1578706 is_a: HP:0001603 ! Weakness of the vocal cords [Term] id: HP:0001607 name: Subglottic stenosis namespace: medical_genetics xref: UMLS:C0238441 is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001608 name: Abnormality of the voice namespace: medical_genetics 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 [] xref: UMLS:C0000768 xref: UMLS:C0042939 xref: UMLS:C1704258 is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001609 name: Hoarse voice namespace: medical_genetics 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: UMLS:C0019825 xref: UMLS:C0042939 xref: UMLS:C1710079 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001611 name: Nasal speech namespace: medical_genetics synonym: "Nasal voice" EXACT [] xref: UMLS:C0566620 xref: UMLS:C1839742 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001612 name: Weak cry namespace: medical_genetics xref: UMLS:C0234860 is_a: HP:0001608 ! Abnormality of the voice is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0001613 name: Hoarse voice (caused by tumor impingement) namespace: medical_genetics xref: UMLS:C0015127 xref: UMLS:C0019825 xref: UMLS:C0027651 xref: UMLS:C0678227 xref: UMLS:C1314792 xref: UMLS:C1524003 xref: UMLS:C1578706 is_a: HP:0001609 ! Hoarse voice [Term] id: HP:0001614 name: Hypernasal speech namespace: medical_genetics def: "Hypernasal speech is when there is the presence of an abnormally increased nasal airflow during speech." [HPO:sdoelken] comment: Examination is by nasal endoscopy. synonym: "Hypernasal voice" EXACT [] xref: UMLS:C0454555 xref: UMLS:C1861154 is_a: HP:0001611 ! Nasal speech [Term] id: HP:0001615 name: Hoarse cry namespace: medical_genetics xref: UMLS:C0019825 is_a: HP:0001609 ! Hoarse voice [Term] id: HP:0001617 name: Absent speech namespace: medical_genetics xref: UMLS:C1856200 is_a: HP:0002116 ! Deficiency of speech development is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0001618 name: Dysphonia namespace: medical_genetics def: "An impairment in the ability to produce voice sounds." [HPO:probinson] xref: UMLS:C1527344 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001620 name: High pitched voice namespace: medical_genetics alt_id: HP:0001610 def: "An abnormal increase in the pitch (frequency) of the voice." [HPO:probinson] synonym: "High-pitched voice" EXACT [] xref: UMLS:C0241703 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001621 name: Soft voice namespace: medical_genetics xref: UMLS:C0042939 xref: UMLS:C0205358 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001622 name: Premature birth namespace: medical_genetics 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 [] xref: UMLS:C0021270 xref: UMLS:C0151526 xref: UMLS:C0392760 xref: UMLS:C0438076 xref: UMLS:C1314939 xref: UMLS:C2028283 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001623 name: Breech presentation namespace: medical_genetics 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: UMLS:C0005615 xref: UMLS:C0006157 xref: UMLS:C1550722 xref: UMLS:C2053609 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001624 name: Stillbirth namespace: medical_genetics def: "The birth of a fetus that has died in the uterus." [HPO:probinson] synonym: "Stillborn" EXACT [] xref: UMLS:C0595939 xref: UMLS:C0749019 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001625 name: Stillborn or death shortly after birth namespace: medical_genetics synonym: "Die at birth or shortly after birth" EXACT [] xref: UMLS:C0005615 xref: UMLS:C0011065 xref: UMLS:C0184532 xref: UMLS:C0749019 xref: UMLS:C1306577 xref: UMLS:C1546956 xref: UMLS:C1550722 is_a: HP:0001624 ! Stillbirth [Term] id: HP:0001626 name: Abnormality of the cardiovascular system namespace: medical_genetics def: "Any abnormality of the `cardiovascular system` (FMA:7161)." [HPO:probinson] comment: The cardiovascular system consists of the heart, vasculature, and the lymphatic system. synonym: "Cardiovascular abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0007226 xref: UMLS:C0243050 xref: UMLS:C1269562 xref: UMLS:C1704258 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001627 name: Abnormality of the heart namespace: medical_genetics def: "An abnormality of the `heart` (FMA:7088)." [HPO:probinson] synonym: "Cardiac abnormality" EXACT [] synonym: "Cardiac anomalies" EXACT [] xref: UMLS:C0018798 is_a: HP:0001626 ! Abnormality of the cardiovascular system [Term] id: HP:0001629 name: Ventricular septal defect namespace: medical_genetics 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:C0018818 xref: UMLS:C1859213 is_a: HP:0010438 ! Abnormality of the ventricular septum [Term] id: HP:0001630 name: Abnormality of the atrial septum namespace: medical_genetics def: "An abnormality of the `interatrial septum` (FMA:7108)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0225836 xref: UMLS:C1704258 is_a: HP:0001671 ! Abnormality of the cardiac septa is_a: HP:0005120 ! Abnormality of the cardiac atria [Term] id: HP:0001631 name: Atrial septal defect namespace: medical_genetics def: "Atrial septal defect (ASD) is a congenital heart defect that enables blood flow between the left and right atria via the interatrial septum. The three common types of ASD are sinus venosus defects, ostium secundum defects, and ostium primum defects." [HPO:curators] synonym: "Atria septal defect" EXACT [] synonym: "Atrial septal defects" EXACT [] xref: UMLS:C0018817 is_a: HP:0001630 ! Abnormality of the atrial septum [Term] id: HP:0001633 name: Abnormality of the mitral valve namespace: medical_genetics def: "An abnormality of the `mitral valve` (FMA:7235)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0026264 xref: UMLS:C1269004 xref: UMLS:C1704258 is_a: HP:0006705 ! Abnormality of the atrioventricular valves [Term] id: HP:0001634 name: Mitral valve prolapse namespace: medical_genetics xref: UMLS:C0026267 is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0001635 name: Congestive heart failure namespace: medical_genetics 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:curators] synonym: "Cardiac failure" EXACT [] synonym: "Cardiac insufficiency" EXACT [] synonym: "Heart failure" EXACT [] xref: UMLS:C0018801 xref: UMLS:C0018802 is_a: HP:0001627 ! Abnormality of the heart [Term] id: HP:0001636 name: Tetralogy of Fallot namespace: medical_genetics 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:curators] synonym: "Tetrology of fallot" EXACT [] is_a: HP:0002565 ! Complex cardiac malformations [Term] id: HP:0001637 name: Abnormality of the myocardium namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0027061 xref: UMLS:C1704258 is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001638 name: Cardiomyopathy namespace: medical_genetics xref: UMLS:C0878544 is_a: HP:0001637 ! Abnormality of the myocardium [Term] id: HP:0001639 name: Hypertrophic cardiomyopathy namespace: medical_genetics synonym: "Cardiomyopathy, hypertrophic" EXACT [] xref: UMLS:C0007194 xref: UMLS:C0020564 xref: UMLS:C0333959 xref: UMLS:C0340425 xref: UMLS:C0878544 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001640 name: Cardiomegaly namespace: medical_genetics def: "`Increased size` (PATO:0000586) of the `heart` (FMA:7088)." [HPO:probinson] xref: UMLS:C0018800 is_a: HP:0001627 ! Abnormality of the heart [Term] id: HP:0001641 name: Abnormality of the pulmonary valve namespace: medical_genetics def: "An abnormality of the `pulmonary valve` (FMA:7246)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0034086 xref: UMLS:C1269007 xref: UMLS:C1704258 is_a: HP:0001654 ! Abnormality of the heart valves [Term] id: HP:0001642 name: Pulmonic stenosis namespace: medical_genetics 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). 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." [HPO:curators] synonym: "Pulmonary stenosis" EXACT [] synonym: "Pulmonary valve stenosis" EXACT [] synonym: "Pulmonic valve stenosis" EXACT [] xref: UMLS:C0034089 xref: UMLS:C1956257 is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0001643 name: Patent ductus arteriosus namespace: medical_genetics synonym: "Ductus arteriosus" EXACT [] xref: UMLS:C0013273 xref: UMLS:C0013274 xref: UMLS:C1269536 is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001644 name: Dilated cardiomyopathy namespace: medical_genetics alt_id: HP:0001725 synonym: "Cardiomyopathy, dilated" EXACT [] xref: UMLS:C0007193 xref: UMLS:C0700124 xref: UMLS:C0878544 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001645 name: Sudden cardiac death namespace: medical_genetics xref: UMLS:C0085298 is_a: HP:0001695 ! Cardiac arrest [Term] id: HP:0001646 name: Abnormality of the aortic valve namespace: medical_genetics def: "Any abnormality of the `aortic valve` (FMA:7236)." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0003501 xref: UMLS:C1269005 xref: UMLS:C1704258 is_a: HP:0001654 ! Abnormality of the heart valves [Term] id: HP:0001647 name: Bicuspid aortic valve namespace: medical_genetics def: "The presence of a bicuspid `aortic valve` (FMA:7236)." [HPO:probinson] comment: The aortic valve normally has three cusps (flaps), that is, it is normally tricuspid. xref: UMLS:C0149630 is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0001648 name: Cor pulmonale namespace: medical_genetics 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:C0034072 xref: UMLS:C0238074 is_a: HP:0001707 ! Right ventricular abnormality [Term] id: HP:0001649 name: Tachycardia namespace: medical_genetics alt_id: HP:0001720 def: "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators] synonym: "Rapid heart beat" EXACT [] xref: UMLS:C0039231 xref: UMLS:C0558452 xref: UMLS:C2029900 is_a: HP:0001665 ! Abnormality of cardiac conduction [Term] id: HP:0001650 name: Aortic stenosis namespace: medical_genetics alt_id: HP:0005140 def: "The presence of a stenosis (narrowing) of the aortic valve." [HPO:curators] 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 valve stenosis" EXACT [] synonym: "Valvular aortic stenosis" EXACT [] xref: UMLS:C0003507 is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0001651 name: Dextrocardia namespace: medical_genetics def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side in stead of the left." [HPO:sdoelken] synonym: "Thoracic situs inversus" EXACT [] xref: UMLS:C0011813 is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001653 name: Mitral regurgitation namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Mitral incompetence" EXACT [] synonym: "Mitral insufficiency" EXACT [] synonym: "Mitral valve insufficiency" EXACT [] synonym: "Mitral valve regurgitation" EXACT [] xref: UMLS:C0026266 is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0001654 name: Abnormality of the heart valves namespace: medical_genetics alt_id: HP:0001703 def: "An abnormality of a `Cardiac valve` (FMA:7110)." [HPO:probinson] synonym: "Valvular abnormality" EXACT [] synonym: "Valvular heart disease" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0018824 xref: UMLS:C0018825 xref: UMLS:C0018826 xref: UMLS:C0241654 xref: UMLS:C1704258 xref: UMLS:C1963123 is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001655 name: Patent foramen ovale namespace: medical_genetics def: "Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria." [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: UMLS:C0016522 is_a: HP:0001630 ! Abnormality of the atrial septum [Term] id: HP:0001657 name: Prolonged QT interval on EKG namespace: medical_genetics synonym: "Long QT syndrome" EXACT [] synonym: "Prolong qt interval on ekg" EXACT [] xref: UMLS:C0023976 xref: UMLS:C0151878 xref: UMLS:C0429028 xref: UMLS:C0439590 xref: UMLS:C1623258 is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0001658 name: Myocardial infarction namespace: medical_genetics xref: UMLS:C0027051 is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0001659 name: Aortic insufficiency namespace: medical_genetics def: "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:curators] synonym: "Aortic regurgitation" EXACT [] synonym: "Aortic valve regurgitation" EXACT [] xref: UMLS:C0003504 is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0001660 name: Persistant truncus arteriosus namespace: medical_genetics def: "Persistent Truncus Arteriosus results from a failure of the truncus arteriosus to close." [HPO:curators] synonym: "Truncus arteriosus" RELATED [] xref: UMLS:C0041206 xref: UMLS:C0041207 xref: UMLS:C1305909 is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001662 name: Bradycardia namespace: medical_genetics xref: UMLS:C0428977 is_a: HP:0001665 ! Abnormality of cardiac conduction [Term] id: HP:0001663 name: Ventricular fibrillation namespace: medical_genetics xref: UMLS:C0042510 xref: UMLS:C1962976 xref: UMLS:C2108112 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0001664 name: Torsade de pointes namespace: medical_genetics synonym: "Torsades de pointes" EXACT [] xref: UMLS:C0040479 xref: UMLS:C1963250 is_a: HP:0001663 ! Ventricular fibrillation [Term] id: HP:0001665 name: Abnormality of cardiac conduction namespace: medical_genetics alt_id: HP:0001656 alt_id: HP:0001661 alt_id: HP:0001666 alt_id: HP:0001687 alt_id: HP:0004351 alt_id: HP:0005158 def: "An abnormality of the electrical conduction system of the heart." [HPO:probinson] synonym: "Abnormal electrocardiogram" EXACT [] synonym: "Arrhythmia" 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 [] xref: UMLS:C0000768 xref: UMLS:C0003811 xref: UMLS:C0012634 xref: UMLS:C0018064 xref: UMLS:C0018799 xref: UMLS:C0059422 xref: UMLS:C0232187 xref: UMLS:C0232217 xref: UMLS:C0264886 xref: UMLS:C0522055 xref: UMLS:C0855329 xref: UMLS:C0871269 xref: UMLS:C1560249 xref: UMLS:C1623258 xref: UMLS:C1654618 xref: UMLS:C1704258 xref: UMLS:C1832603 xref: UMLS:C1842820 is_a: HP:0001627 ! Abnormality of the heart [Term] id: HP:0001667 name: Right ventricular hypertrophy namespace: medical_genetics 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. This feature can also be a component of the separat entity tetralogy of Fallot in which case it is generally agreed to be a secondary anomaly, as the level of hypertrophy generally increases with age." [HPO:curators] xref: UMLS:C0162770 xref: UMLS:C0232305 is_a: HP:0001707 ! Right ventricular abnormality is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001668 name: Heart block namespace: medical_genetics def: "This group comprises blockages of the cardiac conduction system including sinoatrial (SA) blocks, atriventricular (AV) blocks, infra-Hisian blocks, and left or right bundle branch blocks." [HPO:curators] xref: UMLS:C0018794 is_a: HP:0001665 ! Abnormality of cardiac conduction [Term] id: HP:0001669 name: Transposition of the great arteries namespace: medical_genetics 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: UMLS:C0040674 xref: UMLS:C0040759 xref: UMLS:C0040761 xref: UMLS:C0192798 xref: UMLS:C0225991 xref: UMLS:C1282845 xref: UMLS:C1820371 is_a: HP:0002565 ! Complex cardiac malformations [Term] id: HP:0001670 name: Asymmetric septal hypertrophy namespace: medical_genetics xref: UMLS:C0205700 is_a: HP:0001671 ! Abnormality of the cardiac septa [Term] id: HP:0001671 name: Abnormality of the cardiac septa namespace: medical_genetics alt_id: HP:0001690 synonym: "Septal defects" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0018816 xref: UMLS:C0018819 xref: UMLS:C1704258 is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001672 name: Symmetric, concentric, hypertrophic cardiomyopathy namespace: medical_genetics xref: UMLS:C0238044 xref: UMLS:C0332516 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001673 name: Tachycardia (with pheochromocytoma) namespace: medical_genetics xref: UMLS:C0031511 xref: UMLS:C0039231 xref: UMLS:C0558452 xref: UMLS:C1706920 xref: UMLS:C2029900 is_a: HP:0001675 ! Rhythm disturbances associated with pheochromocytoma [Term] id: HP:0001674 name: Complete atrioventricular canal namespace: medical_genetics alt_id: HP:0001689 alt_id: HP:0006697 def: "Complete atrioventricular canal (CAVC) is a complex cardiac malformation characterised by a variable deficiency of the atrioventricular area (crux cordis) in the developing heart. The malformation involves the atrial, ventricular and atrioventricular septa and both atrioventricular valves." [HPO:curators, 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 [] synonym: "Endocardial cushion defect" EXACT [] xref: UMLS:C0014116 xref: UMLS:C0086881 xref: UMLS:C0205197 xref: UMLS:C0205214 xref: UMLS:C0231081 xref: UMLS:C0442636 xref: UMLS:C1282848 xref: UMLS:C1550227 is_a: HP:0001629 ! Ventricular septal defect is_a: HP:0001631 ! Atrial septal defect [Term] id: HP:0001675 name: Rhythm disturbances associated with pheochromocytoma namespace: medical_genetics xref: UMLS:C0031511 xref: UMLS:C0332281 xref: UMLS:C0871269 xref: UMLS:C1654618 xref: UMLS:C1706920 is_a: HP:0001665 ! Abnormality of cardiac conduction [Term] id: HP:0001676 name: Palpitations (with pheochromocytoma) namespace: medical_genetics xref: UMLS:C0030252 xref: UMLS:C0031511 xref: UMLS:C1706920 is_a: HP:0001675 ! Rhythm disturbances associated with pheochromocytoma [Term] id: HP:0001677 name: Coronary artery disease namespace: medical_genetics xref: UMLS:C0010068 xref: UMLS:C1956346 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 namespace: medical_genetics xref: UMLS:C0004245 xref: UMLS:C2108077 is_a: HP:0001668 ! Heart block [Term] id: HP:0001679 name: Abnormality of the aorta namespace: medical_genetics def: "An abnormality of the `aorta` (FMA:3734)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0003483 xref: UMLS:C1278934 is_a: HP:0011004 ! Abnormality of the systemic arterial tree [Term] id: HP:0001680 name: Coarctation of aorta namespace: medical_genetics def: "Coarctation of the aorta is a narrowing or constriction of the aorta just distal to the origin of the left subclavian artery." [HPO:curators] synonym: "Aortic coarctation" EXACT [] synonym: "Coaractation of the aorta" EXACT [] synonym: "Coarctation of the aorta" EXACT [] xref: UMLS:C0003483 xref: UMLS:C0003492 xref: UMLS:C0332886 xref: UMLS:C1278934 is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0001681 name: Angina pectoris namespace: medical_genetics xref: UMLS:C0002962 is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0001682 name: Subaortic stenosis namespace: medical_genetics 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:curators] xref: UMLS:C0340375 is_a: HP:0001650 ! Aortic stenosis [Term] id: HP:0001683 name: Ectopia cordis namespace: medical_genetics xref: UMLS:C0013580 is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001684 name: Secundum atrial septal defect namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Secundum atrial septal defect" EXACT [] xref: UMLS:C0016522 is_a: HP:0001631 ! Atrial septal defect [Term] id: HP:0001685 name: Myocardial fibrosis namespace: medical_genetics xref: UMLS:C0151654 is_a: HP:0001637 ! Abnormality of the myocardium [Term] id: HP:0001686 name: Loss of voice namespace: medical_genetics xref: UMLS:C0042939 xref: UMLS:C1517945 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001688 name: Sinus bradycardia namespace: medical_genetics xref: UMLS:C0085610 xref: UMLS:C1963175 xref: UMLS:C2108107 is_a: HP:0001662 ! Bradycardia [Term] id: HP:0001691 name: Muscular subaortic stenosis namespace: medical_genetics def: "A type of subaortic 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:curators] xref: UMLS:C0700053 is_a: HP:0001682 ! Subaortic stenosis [Term] id: HP:0001692 name: Atrial arrhythmias namespace: medical_genetics xref: UMLS:C0085611 is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0001693 name: Shunts namespace: medical_genetics xref: UMLS:C0542331 is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001694 name: Right-to-left shunt namespace: medical_genetics xref: UMLS:C0428871 xref: UMLS:C2023812 is_a: HP:0001693 ! Shunts [Term] id: HP:0001695 name: Cardiac arrest namespace: medical_genetics xref: UMLS:C0018790 is_a: HP:0001665 ! Abnormality of cardiac conduction [Term] id: HP:0001696 name: Situs inversus namespace: medical_genetics def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs." [HPO:curators] synonym: "situs oppositus" EXACT [] synonym: "situs transversus" EXACT [] xref: UMLS:C0037221 is_a: HP:0001651 ! Dextrocardia is_a: HP:0003363 ! Abdominal situs inversus [Term] id: HP:0001697 name: Abnormality of the pericardium namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0031050 xref: UMLS:C1278933 xref: UMLS:C1704258 is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001698 name: Pericardial effusion namespace: medical_genetics synonym: "Pericardial effusions" EXACT [] xref: UMLS:C0031039 xref: UMLS:C1253937 is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0001699 name: Sudden death namespace: medical_genetics xref: UMLS:C0011071 xref: UMLS:C1964022 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0001700 name: Myocardial necrosis namespace: medical_genetics xref: UMLS:C1442837 is_a: HP:0001637 ! Abnormality of the myocardium [Term] id: HP:0001701 name: Pericarditis namespace: medical_genetics xref: UMLS:C0031046 xref: UMLS:C1963211 is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0001702 name: Abnormality of the tricuspid valve namespace: medical_genetics def: "An abnormality of the `tricuspid valve` (FMA:7234)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0040960 xref: UMLS:C1269006 xref: UMLS:C1704258 is_a: HP:0006705 ! Abnormality of the atrioventricular valves [Term] id: HP:0001704 name: Tricuspid valve prolapse namespace: medical_genetics xref: UMLS:C0040962 is_a: HP:0001702 ! Abnormality of the tricuspid valve [Term] id: HP:0001705 name: Right ventricular outlet obstruction namespace: medical_genetics xref: UMLS:C1849344 is_a: HP:0001707 ! Right ventricular abnormality [Term] id: HP:0001706 name: Endocardial fibroelastosis namespace: medical_genetics xref: UMLS:C0014117 is_a: HP:0004306 ! Abnormality of the endocardium [Term] id: HP:0001707 name: Right ventricular abnormality namespace: medical_genetics def: "An abnormality of the `right ventricle` (FMA:7098) of the heart." [HPO:probinson] xref: UMLS:C0344887 is_a: HP:0001713 ! Abnormality of the cardiac ventricle [Term] id: HP:0001708 name: Right ventricular failure namespace: medical_genetics xref: UMLS:C0235527 is_a: HP:0001707 ! Right ventricular abnormality [Term] id: HP:0001709 name: Complete heart block namespace: medical_genetics xref: UMLS:C0151517 xref: UMLS:C2215935 is_a: HP:0001668 ! Heart block [Term] id: HP:0001710 name: Conotruncal defect namespace: medical_genetics synonym: "Conotruncal heart defects" EXACT [] xref: UMLS:C1457869 xref: UMLS:C1853238 xref: UMLS:C1861101 is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001711 name: Left ventricular abnormality namespace: medical_genetics def: "An abnormality of the `left ventricle` (FMA:7101) of the heart." [HPO:probinson] xref: UMLS:C0344905 is_a: HP:0001713 ! Abnormality of the cardiac ventricle [Term] id: HP:0001712 name: Left ventricular hypertrophy namespace: medical_genetics xref: UMLS:C0149721 xref: UMLS:C0232306 is_a: HP:0001711 ! Left ventricular abnormality is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001713 name: Abnormality of the cardiac ventricle namespace: medical_genetics def: "An abnormality of a `cardiac ventricle` (FMA:7100)." [HPO:probinson] comment: This terms groups abnormalities affecting either the `right ventricle` (FMA:7098) and/or the `left ventricle` (FMA:7101). xref: UMLS:C0000768 xref: UMLS:C0018827 xref: UMLS:C1280934 xref: UMLS:C1704258 is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001714 name: Ventricular hypertrophy namespace: medical_genetics xref: UMLS:C0340279 is_a: HP:0001713 ! Abnormality of the cardiac ventricle [Term] id: HP:0001715 name: Atrial fibrillation, isolated namespace: medical_genetics xref: UMLS:C0004238 xref: UMLS:C0205409 xref: UMLS:C1963067 xref: UMLS:C2041124 xref: UMLS:C2108067 is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0001716 name: Wolf-Parkinson-White syndrome namespace: medical_genetics xref: UMLS:C0043202 is_a: HP:0004309 ! Pre-excitation syndromes [Term] id: HP:0001717 name: Coronary artery calcification namespace: medical_genetics xref: UMLS:C1611184 is_a: HP:0004934 ! Vascular calcifications is_a: HP:0006704 ! Abnormality of the coronary arteries [Term] id: HP:0001718 name: Mitral stenosis namespace: medical_genetics alt_id: HP:0005163 synonym: "Mitral valve stenosis" EXACT [] xref: UMLS:C0026269 is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0001719 name: Double outlet right ventricle namespace: medical_genetics 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: UMLS:C0013069 is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001721 name: Irregular heart beat namespace: medical_genetics synonym: "Irregular heartbeat" EXACT [] xref: UMLS:C0237314 is_a: HP:0001665 ! Abnormality of cardiac conduction [Term] id: HP:0001722 name: High-output congestive heart failure namespace: medical_genetics 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] xref: UMLS:C0018802 xref: UMLS:C0205250 xref: UMLS:C1299351 xref: UMLS:C1709366 is_a: HP:0001635 ! Congestive heart failure [Term] id: HP:0001723 name: Restrictive cardiomyopathy namespace: medical_genetics xref: UMLS:C0007196 xref: UMLS:C1963079 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001724 name: Aortic dilatation namespace: medical_genetics xref: UMLS:C0265004 is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0001726 name: Increased prevalence of valvular disease namespace: medical_genetics xref: UMLS:C0012634 xref: UMLS:C0033105 xref: UMLS:C0184252 xref: UMLS:C0205217 xref: UMLS:C0220900 xref: UMLS:C0442805 xref: UMLS:C1186983 xref: UMLS:C1704414 is_a: HP:0001654 ! Abnormality of the heart valves [Term] id: HP:0001727 name: Thromboembolic stroke may occur namespace: medical_genetics xref: UMLS:C1112433 xref: UMLS:C1709305 is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0001728 name: Congenital deafness namespace: medical_genetics alt_id: HP:0008563 def: "A complete lack of the ability for `sensory perception of sound` (GO:0007605) in one or both ears with `congenital onset` (HP:0003577)." [HPO:probinson] synonym: "Profound congenital deafness" EXACT [] xref: UMLS:C0009678 xref: UMLS:C0339789 xref: UMLS:C0439808 xref: UMLS:C1744681 xref: UMLS:C1864817 is_a: HP:0001729 ! Congenital hearing loss [Term] id: HP:0001729 name: Congenital hearing loss namespace: medical_genetics def: "A type of `hearing impairment` (HP:0000365) with `congenital onset` (HP:0003577)." [HPO:probinson] xref: UMLS:C0262435 is_a: HP:0000365 ! Hearing impairment [Term] id: HP:0001730 name: Progressive hearing impairment namespace: medical_genetics def: "A `progressive` (PATO:0001818) form of `hearing impairment` (HP:0000365)." [HPO:probinson] synonym: "Progressive hearing loss" EXACT [] xref: UMLS:C1842138 is_a: HP:0000365 ! Hearing impairment [Term] id: HP:0001731 name: Prelingual deafness namespace: medical_genetics def: "A complete `absence` ( PATO:0000462) of the ability for `sensory perception of sound` (GO:0007605) in one or both ears with either `congenital onset` (HP:0003577) or `infantile onset` (HP:0003593), i.e., before the acquisition of speech." [HPO:probinson] synonym: "Deafness, prelingual, profound" EXACT [] xref: UMLS:C0001721 xref: UMLS:C0011053 xref: UMLS:C0439603 xref: UMLS:C0439808 xref: UMLS:C0581883 xref: UMLS:C1384666 xref: UMLS:C2029884 is_a: HP:0000404 ! Deafness [Term] id: HP:0001732 name: Abnormality of the pancreas namespace: medical_genetics def: "An abnormality of the `pancreas` (FMA:7198)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0030274 xref: UMLS:C0771711 xref: UMLS:C1278931 xref: UMLS:C1704258 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001733 name: Pancreatitis namespace: medical_genetics def: "The presence of `inflammation` (MPATH:212) in the `pancreas` (FMA:7198)." [HPO:probinson] xref: UMLS:C0030305 xref: UMLS:C1963198 is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0001734 name: Annular pancreas namespace: medical_genetics xref: UMLS:C0149955 is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0001735 name: Acute pancreatitis namespace: medical_genetics alt_id: HP:0004512 def: "A `acute` (PATO:0000389) form of `pancreatitis` (HP:0001733)." [HPO:probinson] synonym: "Pancreatitis, acute" EXACT [] xref: UMLS:C0030305 xref: UMLS:C0205178 xref: UMLS:C1963198 is_a: HP:0001733 ! Pancreatitis [Term] id: HP:0001736 name: Islet cell hyperplasia, diffuse namespace: medical_genetics xref: UMLS:C0027773 xref: UMLS:C0205219 is_a: HP:0004510 ! Islets of Langerhans hyperplasia [Term] id: HP:0001737 name: Pancreatic cysts namespace: medical_genetics synonym: "Multiple pancreatic cysts" EXACT [] xref: UMLS:C0030283 xref: UMLS:C1860394 is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0001738 name: Exocrine pancreatic insufficiency namespace: medical_genetics xref: UMLS:C0267963 is_a: HP:0002581 ! Pancreatic insufficiency [Term] id: HP:0001739 name: Abnormality of the nasopharynx namespace: medical_genetics comment: The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. xref: UMLS:C0000768 xref: UMLS:C0027442 xref: UMLS:C1268975 xref: UMLS:C1704258 xref: UMLS:C2137001 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0000600 ! Abnormality of the pharynx [Term] id: HP:0001740 name: Frequent upper respiratory tract infections namespace: medical_genetics synonym: "Frequent upper respiratory infections" EXACT [] synonym: "Recurrent upper respiratory and lower respiratory infections" EXACT [] xref: UMLS:C0034897 xref: UMLS:C0035243 xref: UMLS:C0441994 xref: UMLS:C0521346 xref: UMLS:C1282910 xref: UMLS:C1546767 xref: UMLS:C1854790 is_a: HP:0001739 ! Abnormality of the nasopharynx [Term] id: HP:0001741 name: Phimosis namespace: medical_genetics def: "The male foreskin cannot be fully retracted from the head of the penis." [HPO:sdoelken] xref: UMLS:C0031538 xref: UMLS:C0345326 xref: UMLS:C0403766 is_a: HP:0100587 ! Abnormality of the preputium [Term] id: HP:0001742 name: Nasal obstruction leading to mouth breathing namespace: medical_genetics xref: UMLS:C0026635 xref: UMLS:C0027429 xref: UMLS:C0332152 xref: UMLS:C1522538 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0001743 name: Abnormality of the spleen namespace: medical_genetics def: "An abnormality of the `spleen` (FMA:7196)." [HPO:probinson] comment: The spleen is an abdominal organ that functions as a member of the hematopoietic system and of the immune system. xref: UMLS:C0000768 xref: UMLS:C0037993 xref: UMLS:C1278932 xref: UMLS:C1704258 xref: UMLS:C2228485 is_a: HP:0001871 ! Abnormality of the hematopoietic system is_a: HP:0002012 ! Abnormality of the abdominal organs is_a: HP:0010986 ! Abnormality of immune system organ [Term] id: HP:0001744 name: Splenomegaly namespace: medical_genetics def: "Abnormal `increased size` (PATO:0000586) of the `spleen` (FMA:7196)." [HPO:probinson] xref: UMLS:C0038002 is_a: HP:0001743 ! Abnormality of the spleen is_a: HP:0003271 ! Visceromegaly [Term] id: HP:0001745 name: Mild splenomegaly namespace: medical_genetics xref: UMLS:C1865190 is_a: HP:0001744 ! Splenomegaly [Term] id: HP:0001746 name: Asplenia namespace: medical_genetics def: "Absence (aplasia) of the `spleen` (FMA:7196)." [HPO:curators] xref: UMLS:C0600031 is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen [Term] id: HP:0001747 name: Accessory spleen namespace: medical_genetics def: "An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal varient mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance." [HPO:curators] xref: UMLS:C0266631 is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001748 name: Polysplenia namespace: medical_genetics 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:C0266631 xref: UMLS:C1856659 is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001750 name: Single ventricle namespace: medical_genetics xref: UMLS:C0152424 is_a: HP:0001713 ! Abnormality of the cardiac ventricle [Term] id: HP:0001751 name: Vestibular dysfunction namespace: medical_genetics synonym: "Impaired vestibular function" EXACT [] synonym: "Vestibular function defect" EXACT [] xref: UMLS:C0221099 xref: UMLS:C0684336 xref: UMLS:C1457869 xref: UMLS:C1843865 xref: UMLS:C1861101 xref: UMLS:C2370946 is_a: HP:0000359 ! Abnormality of the inner ear [Term] id: HP:0001755 name: Large, protruding ears namespace: medical_genetics synonym: "Large protruding ears" EXACT [] xref: UMLS:C1835581 is_a: HP:0000400 ! Large ears is_a: HP:0000411 ! Protruding ears [Term] id: HP:0001756 name: Vestibular hypofunction namespace: medical_genetics xref: UMLS:C1848606 is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0001757 name: High-tone sensorineural deafness namespace: medical_genetics def: "A form of `sensorineural deafness` (HP:0008538) that affects primarily the higher frequencies." [HPO:probinson] xref: UMLS:C1835182 is_a: HP:0008538 ! Sensorineural deafness [Term] id: HP:0001759 name: Malformed ossicles namespace: medical_genetics synonym: "Ossicular malformation" EXACT [] xref: UMLS:C0000768 xref: UMLS:C1836678 xref: UMLS:C2371871 is_a: HP:0000359 ! Abnormality of the inner ear [Term] id: HP:0001760 name: Abnormality of the feet namespace: medical_genetics alt_id: HP:0010216 def: "An abnormality of the feet (foot deformity) is 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) & etc." [HPO:curators] synonym: "Foot deformities" EXACT [] synonym: "Foot deformity" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016504 xref: UMLS:C0016506 xref: UMLS:C0347981 xref: UMLS:C1704258 is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0001761 name: Pes cavus namespace: medical_genetics xref: UMLS:C0016506 xref: UMLS:C0039273 xref: UMLS:C0728829 xref: UMLS:C2239098 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001762 name: Talipes equinovarus namespace: medical_genetics def: "Also called clubfoot typically has 4 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. 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." [HPO:curators] 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: UMLS:C0009081 xref: UMLS:C0016504 xref: UMLS:C0158489 xref: UMLS:C0347981 xref: UMLS:C1281587 xref: UMLS:C2346504 xref: UMLS:C2348613 xref: UMLS:C2348704 is_a: HP:0001883 ! Talipes [Term] id: HP:0001763 name: Pes planus namespace: medical_genetics def: "A condition in which the arch of the foot is flat, with the entire sole of the foot being in near-complete contact with the ground." [HPO:curators] synonym: "Flat feet" EXACT [] xref: UMLS:C0016202 xref: UMLS:C0264133 xref: UMLS:C0392477 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001764 name: Small feet namespace: medical_genetics xref: UMLS:C0576224 is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001765 name: Hammer toes namespace: medical_genetics synonym: "Hammer toe" EXACT [] synonym: "Hammertoes" EXACT [] xref: UMLS:C1136179 xref: UMLS:C2239184 is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001766 name: Short feet namespace: medical_genetics xref: UMLS:C0576226 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001769 name: Broad feet namespace: medical_genetics def: "Increased width of the feet." [HPO:curators] xref: UMLS:C1866241 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001770 name: Toe syndactyly namespace: medical_genetics alt_id: HP:0001828 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:C0016504 xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0265660 xref: UMLS:C0347981 xref: UMLS:C2117411 is_a: HP:0001159 ! Syndactyly is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001771 name: Achilles tendon contracture namespace: medical_genetics def: "A contracture of the `Achilles tendon` (FMA:51061)." [HPO:probinson] synonym: "Contractures of the Achilles tendon" EXACT [] xref: UMLS:C0001074 xref: UMLS:C0009917 xref: UMLS:C0410264 xref: UMLS:C1305378 is_a: HP:0005109 ! Abnormality of the Achilles tendon is_a: HP:0008366 ! Contractures involving the joints of the feet [Term] id: HP:0001772 name: Talipes equinovalgus namespace: medical_genetics xref: UMLS:C0265642 is_a: HP:0001883 ! Talipes [Term] id: HP:0001773 name: Short, broad feet namespace: medical_genetics alt_id: HP:0001778 def: "Abnormally short and wide feet." [HPO:curators] synonym: "Short broad feet" EXACT [] xref: UMLS:C1850337 is_a: HP:0001766 ! Short feet is_a: HP:0001769 ! Broad feet is_a: HP:0001772 ! Talipes equinovalgus [Term] id: HP:0001775 name: Tarsal osteovalgus namespace: medical_genetics xref: UMLS:C1550316 is_a: HP:0008365 ! Abnormality of the talus [Term] id: HP:0001776 name: Bilateral club feet namespace: medical_genetics synonym: "Bilateral clubfeet" EXACT [] synonym: "Bilateral clubfoot" EXACT [] xref: UMLS:C1837835 xref: UMLS:C1844847 is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0001780 name: Abnormality of the toes namespace: medical_genetics def: "Abnormality of the toes of the feet." [HPO:curators] synonym: "Abnormalities of the toes" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0040357 xref: UMLS:C1704258 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001781 name: Short, broad toes namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C1806781 xref: UMLS:C1836195 xref: UMLS:C1865038 xref: UMLS:C2350002 is_a: HP:0004701 ! Hypoplasia of the toes [Term] id: HP:0001782 name: 'Tree-frog' feet namespace: medical_genetics xref: UMLS:C1839520 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001783 name: Broad metatarsals namespace: medical_genetics xref: UMLS:C1842231 is_a: HP:0001769 ! Broad feet is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0001785 name: Ankle swelling namespace: medical_genetics xref: UMLS:C0235439 xref: UMLS:C0576177 is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0001786 name: Slender feet namespace: medical_genetics xref: UMLS:C1833151 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001787 name: Abnormal delivery namespace: medical_genetics def: "An abnormality of the birth process." [HPO:probinson] xref: UMLS:C0549629 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001788 name: Premature rupture of membranes namespace: medical_genetics 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] xref: UMLS:C0025255 xref: UMLS:C0035955 xref: UMLS:C0205252 xref: UMLS:C1881712 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001789 name: Hydrops fetalis namespace: medical_genetics 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: UMLS:C0020305 is_a: HP:0000969 ! Edema is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001790 name: Nonimmune hydrops fetalis namespace: medical_genetics def: "A type of `hydrops fetalis` (HP:0001789) 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:C0020305 xref: UMLS:C0439662 xref: UMLS:C0455988 xref: UMLS:C1412877 xref: UMLS:C1518422 xref: UMLS:C1856457 is_a: HP:0001789 ! Hydrops fetalis [Term] id: HP:0001791 name: Fetal ascites namespace: medical_genetics xref: UMLS:C1285291 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001792 name: Nail hypoplasia namespace: medical_genetics alt_id: HP:0001813 def: "Underdeveloped `fingernails` (FMA:54327) or `toenails` (FMA:54328)." [HPO:probinson] synonym: "Fingernail hypoplasia" EXACT [] synonym: "Hypoplastic nail" EXACT [] synonym: "Hypoplastic nails" EXACT [] synonym: "Small nails" EXACT [] xref: UMLS:C0240439 xref: UMLS:C1839287 xref: UMLS:C1847195 xref: UMLS:C1856473 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001795 name: Hyperconvex nails namespace: medical_genetics def: "Fingernails or toenails that show an exaggeratedly convex form." [HPO:curators] xref: UMLS:C1846074 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001798 name: Anonychia namespace: medical_genetics def: "`Aplasia` (MPATH:58) of the `nail` (FMA:54326)." [HPO:probinson] comment: Total absence of nails. synonym: "Absent nails" EXACT [] synonym: "Aplastic nails" EXACT [] xref: UMLS:C0027342 xref: UMLS:C0265998 xref: UMLS:C0334079 xref: UMLS:C0600021 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001799 name: Short nails namespace: medical_genetics xref: UMLS:C0423808 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001800 name: Hypoplastic toenails namespace: medical_genetics def: "Underdeveloped toenails." [HPO:curators] xref: UMLS:C1837279 is_a: HP:0001792 ! Nail hypoplasia is_a: HP:0010624 ! Aplastic/hypoplastic toenails [Term] id: HP:0001801 name: Longitudinal ridging namespace: medical_genetics xref: UMLS:C1844641 is_a: HP:0001807 ! Nail ridging [Term] id: HP:0001802 name: Absent toenails namespace: medical_genetics xref: UMLS:C1844555 is_a: HP:0001798 ! Anonychia is_a: HP:0010624 ! Aplastic/hypoplastic toenails [Term] id: HP:0001803 name: Nail pitting namespace: medical_genetics synonym: "Nail pits" EXACT [] synonym: "Pitted nails" EXACT [] xref: UMLS:C0150993 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001804 name: Hypoplastic fingernails namespace: medical_genetics def: "Underdeveloped fingernails." [HPO:curators] xref: UMLS:C1856786 is_a: HP:0001792 ! Nail hypoplasia is_a: HP:0008384 ! Aplastic/hypoplastic fingernails [Term] id: HP:0001805 name: Thickened nails namespace: medical_genetics xref: UMLS:C0240444 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001806 name: Onycholysis namespace: medical_genetics comment: Oncholysis appears to be a misspelling of onycholysis. synonym: "Oncholysis" EXACT [] xref: UMLS:C0085661 xref: UMLS:C1863011 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001807 name: Nail ridging namespace: medical_genetics xref: UMLS:C0423820 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001808 name: Fragile nails namespace: medical_genetics alt_id: HP:0001796 synonym: "Brittle nails" EXACT [] xref: UMLS:C0546956 xref: UMLS:C1856963 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001809 name: Longitudinal splitting namespace: medical_genetics xref: UMLS:C1844642 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001810 name: Dystrophic toenails namespace: medical_genetics synonym: "Dystrophic toenail changes" EXACT [] xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C1705241 xref: UMLS:C1858546 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001811 name: Grooved nails namespace: medical_genetics xref: UMLS:C0423818 is_a: HP:0001807 ! Nail ridging [Term] id: HP:0001812 name: Hyperconvex fingernails namespace: medical_genetics xref: UMLS:C1844825 is_a: HP:0001231 ! Abnormality of the fingernails is_a: HP:0001795 ! Hyperconvex nails [Term] id: HP:0001814 name: Thin, deep-set nails namespace: medical_genetics xref: UMLS:C0036849 xref: UMLS:C0205125 xref: UMLS:C0423823 xref: UMLS:C1442518 is_a: HP:0001816 ! Thin nails [Term] id: HP:0001816 name: Thin nails namespace: medical_genetics xref: UMLS:C0423823 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001817 name: Absent fingernails namespace: medical_genetics xref: UMLS:C1844554 is_a: HP:0001798 ! Anonychia is_a: HP:0008384 ! Aplastic/hypoplastic fingernails [Term] id: HP:0001818 name: Paronychia namespace: medical_genetics 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:curators] xref: UMLS:C0030578 xref: UMLS:C1075202 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001819 name: Onychogryposis namespace: medical_genetics xref: UMLS:C0263537 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001820 name: Leukonychia namespace: medical_genetics xref: UMLS:C0240182 is_a: HP:0100643 ! Abnormality of the nail colour [Term] id: HP:0001821 name: Broad nails namespace: medical_genetics synonym: "Broad fingernails" EXACT [] xref: UMLS:C0027342 xref: UMLS:C0332464 xref: UMLS:C1843112 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001822 name: Hallux valgus namespace: medical_genetics 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: UMLS:C0012727 xref: UMLS:C0018534 xref: UMLS:C0018536 xref: UMLS:C0158458 xref: UMLS:C0205093 xref: UMLS:C0205419 xref: UMLS:C0265656 xref: UMLS:C1281588 xref: UMLS:C1705236 is_a: HP:0010051 ! Deviation/Displacement of the hallux [Term] id: HP:0001823 name: Low weight namespace: medical_genetics synonym: "Low body weight" EXACT [] xref: UMLS:C0041667 xref: UMLS:C1864448 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001824 name: Weight loss namespace: medical_genetics xref: UMLS:C0043096 is_a: HP:0001823 ! Low weight [Term] id: HP:0001826 name: Weight less than 3rd percentile namespace: medical_genetics synonym: "Birthweight < 3rd percentile" EXACT [] xref: UMLS:C0005612 xref: UMLS:C0005910 xref: UMLS:C0043100 xref: UMLS:C0205437 xref: UMLS:C0424653 xref: UMLS:C1264641 xref: UMLS:C1305866 xref: UMLS:C1705104 is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001827 name: Genital atresia namespace: medical_genetics xref: UMLS:C0243066 xref: UMLS:C0559522 xref: UMLS:C1546649 xref: UMLS:C2119047 is_a: HP:0000078 ! Abnormality of the genital system created_by: peter creation_date: 2008-02-27T04:08:00Z [Term] id: HP:0001829 name: Polydactyly (feet) namespace: medical_genetics alt_id: HP:0009135 def: "A kind of `polydactyly` (HP:0010442) characterized by the presence of a supernumerary toe or toes." [HPO:probinson] synonym: "Duplication of bones of the toes" EXACT [] xref: UMLS:C0016504 xref: UMLS:C0040357 xref: UMLS:C0152427 xref: UMLS:C0262950 xref: UMLS:C0332597 xref: UMLS:C0347981 xref: UMLS:C1266909 xref: UMLS:C1705960 xref: UMLS:C2117329 is_a: HP:0001780 ! Abnormality of the toes is_a: HP:0009136 ! Duplication involving bones of the feet is_a: HP:0010442 ! Polydactyly [Term] id: HP:0001830 name: Postaxial polydactyly (feet) namespace: medical_genetics 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] synonym: "Polydactyly affecting the 5th toe" EXACT [] synonym: "Postaxial polydactyly of feet" EXACT [] xref: UMLS:C0016504 xref: UMLS:C0040357 xref: UMLS:C0152427 xref: UMLS:C0205439 xref: UMLS:C0220697 xref: UMLS:C0347981 xref: UMLS:C0392760 xref: UMLS:C1281589 xref: UMLS:C1314939 xref: UMLS:C2117329 is_a: HP:0001829 ! Polydactyly (feet) is_a: HP:0010322 ! Abnormality of the 5th toe is_a: HP:0100259 ! Postaxial polydactyly [Term] id: HP:0001831 name: Brachydactyly (feet) namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0221357 xref: UMLS:C0347981 is_a: HP:0001156 ! Brachydactyly is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001832 name: Abnormality of the metatarsal bones namespace: medical_genetics 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:curators] xref: UMLS:C0000768 xref: UMLS:C0025584 xref: UMLS:C1704258 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001833 name: Large feet namespace: medical_genetics alt_id: HP:0008136 alt_id: HP:0008143 synonym: "Disproportionately large feet" EXACT [] synonym: "Relatively large feet" EXACT [] xref: UMLS:C1837801 xref: UMLS:C1859464 xref: UMLS:C1868563 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001836 name: Camptodactyly (feet) namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0221369 xref: UMLS:C0347981 xref: UMLS:C0685409 is_a: HP:0001760 ! Abnormality of the feet is_a: HP:0100492 ! Joint contractures involving the joints of the feet [Term] id: HP:0001837 name: Broad toes namespace: medical_genetics xref: UMLS:C1865038 is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001838 name: Vertical talus namespace: medical_genetics xref: UMLS:C0431979 is_a: HP:0008365 ! Abnormality of the talus [Term] id: HP:0001839 name: Ectrodactyly (feet) namespace: medical_genetics 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] synonym: "Lobster-claw foot deformity" EXACT [] synonym: "Split foot" EXACT [] synonym: "Split-foot" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016504 xref: UMLS:C0221430 xref: UMLS:C0265554 xref: UMLS:C0302142 xref: UMLS:C0347981 xref: UMLS:C0432028 xref: UMLS:C0728895 xref: UMLS:C1281587 xref: UMLS:C2117111 xref: UMLS:C2346504 xref: UMLS:C2348613 xref: UMLS:C2348704 is_a: HP:0001760 ! Abnormality of the feet is_a: HP:0100257 ! Ectrodactyly [Term] id: HP:0001840 name: Metatarsus varus namespace: medical_genetics alt_id: HP:0001768 alt_id: HP:0010217 def: "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." [HPO:curators] synonym: "Forefoot varus" EXACT [] synonym: "Metatarsus adductovarsus" EXACT [] synonym: "Metatarsus adductus" EXACT [] xref: UMLS:C0016539 xref: UMLS:C0025590 xref: UMLS:C0265647 xref: UMLS:C0265648 xref: UMLS:C0443345 xref: UMLS:C1510667 xref: UMLS:C1533572 xref: UMLS:C1630649 is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0001841 name: Preaxial polydactyly (feet) namespace: medical_genetics alt_id: HP:0009607 alt_id: HP:0010050 def: "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." [HPO:curators] 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 of feet" EXACT [] synonym: "Preaxial polydactyly of the feet" EXACT [HPO:curators] synonym: "Preaxial polydactyly, feet" EXACT [] xref: UMLS:C0016504 xref: UMLS:C0018534 xref: UMLS:C0152427 xref: UMLS:C0205197 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0345354 xref: UMLS:C0347981 xref: UMLS:C0392760 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1314939 xref: UMLS:C1550516 xref: UMLS:C1705960 xref: UMLS:C1866339 xref: UMLS:C2117329 is_a: HP:0001829 ! Polydactyly (feet) is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0100258 ! Preaxial polydactyly [Term] id: HP:0001842 name: Acroosteolysis (feet) namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0347981 xref: UMLS:C0917990 is_a: HP:0009134 ! Osteolysis involving bones of the feet [Term] id: HP:0001844 name: Abnormality of the hallux namespace: medical_genetics def: "This term applies for all abnormalities of the big toe, also called hallux." [HPO:curators] synonym: "Abnormalities of the hallux " EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0018534 xref: UMLS:C1704258 is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001845 name: Overriding toes namespace: medical_genetics def: "A congenital condition in which a toe is adducted, dorsifelxed, and medially deviated, generally lying over the metatarsal phalangeal joint of the adjacent toe. Usually, the fifth toe is affected." [HPO:curators] synonym: "Crossover toe" RELATED [] synonym: "Overlapping toe" EXACT [] xref: UMLS:C0920299 is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001847 name: Long hallux namespace: medical_genetics alt_id: HP:0001867 def: "Increased length of the big toe." [HPO:curators] synonym: "Increased length of the hallux" EXACT [] synonym: "Large halluces" EXACT [] synonym: "Long halluces" EXACT [] xref: UMLS:C0018534 xref: UMLS:C0205166 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C0549177 xref: UMLS:C1444754 xref: UMLS:C1706316 xref: UMLS:C1706317 is_a: HP:0001844 ! Abnormality of the hallux [Term] id: HP:0001848 name: Calcaneovalgus deformities namespace: medical_genetics alt_id: HP:0001774 synonym: "Calcaneovalgus" EXACT [] xref: UMLS:C1848513 xref: UMLS:C1866492 is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0001849 name: Oligodactyly (feet) namespace: medical_genetics alt_id: HP:0001777 def: "A developmental defect resulting in the presence of fewer than the normal number of toes." [HPO:curators] synonym: "Missing toes" EXACT [] synonym: "Oligodactyly of feet" EXACT [] xref: UMLS:C0016504 xref: UMLS:C0347981 xref: UMLS:C0728895 xref: UMLS:C2144104 is_a: HP:0010760 ! Aplasia of the toes [Term] id: HP:0001850 name: Abnormality of the tarsal bones namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0039316 xref: UMLS:C1704258 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001852 name: Gap between first and second toes namespace: medical_genetics def: "The presence of a larger than normal gap between the first and second toes related to medial displacement of the first toe." [HPO:curators] synonym: "'sandal gap' between first and second toes" EXACT [] 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: "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:C0018534 xref: UMLS:C0040357 xref: UMLS:C0061928 xref: UMLS:C0205217 xref: UMLS:C0205435 xref: UMLS:C0205436 xref: UMLS:C0332464 xref: UMLS:C0442805 xref: UMLS:C0453920 xref: UMLS:C0453964 xref: UMLS:C1152525 xref: UMLS:C1261100 xref: UMLS:C1279901 xref: UMLS:C1281588 xref: UMLS:C1419277 xref: UMLS:C1710137 xref: UMLS:C1849673 xref: UMLS:C1859769 xref: UMLS:C1883067 is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001853 name: Bifid terminal phalanges (feet) namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0347981 xref: UMLS:C1849343 is_a: HP:0001829 ! Polydactyly (feet) [Term] id: HP:0001854 name: Gout (feet) namespace: medical_genetics def: "`Gout` (HP:0001997) affecting the `Metatarsophalangeal joint of big toe`." [HPO:sdoelken] synonym: "Podagra" EXACT [] xref: UMLS:C0016504 xref: UMLS:C0018099 xref: UMLS:C0347981 is_a: HP:0001760 ! Abnormality of the feet is_a: HP:0001997 ! Gout [Term] id: HP:0001857 name: Hypoplastic distal phalanges (feet) namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0347981 xref: UMLS:C1866004 is_a: HP:0004701 ! Hypoplasia of the toes [Term] id: HP:0001859 name: Distal symphalangism (feet) namespace: medical_genetics alt_id: HP:0100236 synonym: "Distal symphalangism (feet)" EXACT [] xref: UMLS:C0016504 xref: UMLS:C0347981 xref: UMLS:C1843683 xref: UMLS:C1861401 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:0001861 name: Short, broad hallux namespace: medical_genetics alt_id: HP:0008105 def: "An abnormal morphology of the `big toe` (FMA:25047) which is reduced in size both in the proximal-distal dimension as well as from side-to-side." [HPO:probinson] synonym: "Short, broad first toe" EXACT [] synonym: "Short, broad halluces" EXACT [] xref: UMLS:C0205435 xref: UMLS:C0332464 xref: UMLS:C1279901 xref: UMLS:C1806781 xref: UMLS:C1836195 xref: UMLS:C1855911 xref: UMLS:C1865038 xref: UMLS:C2350002 is_a: HP:0010055 ! Broad hallux is_a: HP:0010109 ! Hypoplastic/small hallux [Term] id: HP:0001862 name: Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0029443 xref: UMLS:C0332152 xref: UMLS:C0347981 xref: UMLS:C0582802 xref: UMLS:C1522538 xref: UMLS:C1833222 xref: UMLS:C1837604 is_a: HP:0001868 ! Autoamputation (feet) [Term] id: HP:0001863 name: Clinodactyly of feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0265610 xref: UMLS:C0347981 is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001864 name: Fifth toe clinodactyly namespace: medical_genetics xref: UMLS:C1861397 is_a: HP:0001863 ! Clinodactyly of feet [Term] id: HP:0001865 name: Short, broad metatarsals namespace: medical_genetics synonym: "Short, broad metatarsal" EXACT [] xref: UMLS:C0332464 xref: UMLS:C1806781 xref: UMLS:C1842231 xref: UMLS:C1844547 xref: UMLS:C1849020 xref: UMLS:C2350002 is_a: HP:0010743 ! Hypoplasia of the metatarsal bones [Term] id: HP:0001868 name: Autoamputation (feet) namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0347981 xref: UMLS:C1833222 is_a: HP:0001218 ! Autoamputation is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001869 name: Deep plantar creases namespace: medical_genetics xref: UMLS:C1857953 is_a: HP:0010613 ! Minor feet anomalies [Term] id: HP:0001870 name: Acroosteolysis of distal phalanges (feet) namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0347981 xref: UMLS:C0576464 xref: UMLS:C0917990 is_a: HP:0001842 ! Acroosteolysis (feet) [Term] id: HP:0001871 name: Abnormality of the hematopoietic system namespace: medical_genetics alt_id: HP:0003135 def: "An abnormality of the `hematopoietic system` (FMA:9667)." [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: "Hematological abnormality" EXACT [] xref: UMLS:C0022877 xref: UMLS:C0475182 xref: UMLS:C0850715 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001872 name: Abnormality of thrombocytes namespace: medical_genetics alt_id: HP:0005554 def: "An abnormality of `platelets` (CL:0000233)." [HPO:probinson] comment: Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. synonym: "Platelet abnormalities" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0005821 xref: UMLS:C0151854 xref: UMLS:C1704258 is_a: HP:0001871 ! Abnormality of the hematopoietic system [Term] id: HP:0001873 name: Thrombocytopenia namespace: medical_genetics xref: UMLS:C0040034 is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0001874 name: Abnormality of neutrophil namespace: medical_genetics def: "A `neutrophil` (CL:0000775) 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. xref: UMLS:C0000768 xref: UMLS:C0027950 xref: UMLS:C1704258 is_a: HP:0001911 ! Abnormality of granulocytes [Term] id: HP:0001875 name: Neutropenia namespace: medical_genetics alt_id: HP:0005515 alt_id: HP:0005533 def: "An abnormally low number of `neutrophils` (CL:0000775) in the peripheral `blood` (FMA:9670)." [HPO:probinson] synonym: "Peripheral neutropenia" EXACT [] xref: UMLS:C0027947 xref: UMLS:C0205267 xref: UMLS:C0205322 xref: UMLS:C1860321 is_a: HP:0001874 ! Abnormality of neutrophil [Term] id: HP:0001876 name: Pancytopenia namespace: medical_genetics def: "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)." [HPO:probinson] xref: UMLS:C0030312 is_a: HP:0001871 ! Abnormality of the hematopoietic system [Term] id: HP:0001877 name: Abnormality of erythrocytes namespace: medical_genetics def: "An abnormality of `erythrocytes` (CL:0000232) (red-blood cells)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0014772 xref: UMLS:C0014792 xref: UMLS:C1704258 is_a: HP:0010973 ! Abnormality of erythroid lineage cell [Term] id: HP:0001878 name: Hemolytic anemia namespace: medical_genetics 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 [] xref: UMLS:C0002878 is_a: HP:0001903 ! Anemia [Term] id: HP:0001879 name: Abnormality of eosinophils namespace: medical_genetics def: "An `eosinophil` (CL:0000771) abnormality." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0014467 xref: UMLS:C0750879 xref: UMLS:C1704258 xref: UMLS:C2228144 is_a: HP:0001911 ! Abnormality of granulocytes [Term] id: HP:0001880 name: Eosinophilia namespace: medical_genetics def: "Increased count of `eosinophils` (CL:0000771) in the `blood` (FMA:9670)." [HPO:sdoelken] xref: UMLS:C0014457 xref: UMLS:C1306759 is_a: HP:0001879 ! Abnormality of eosinophils [Term] id: HP:0001881 name: Abnormality of leukocytes namespace: medical_genetics def: "An abnormality of `leukocytes` (CL:0000738)." [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:C0000768 xref: UMLS:C0023508 xref: UMLS:C0023516 xref: UMLS:C1704258 xref: UMLS:C1856364 is_a: HP:0001871 ! Abnormality of the hematopoietic system is_a: HP:0010987 ! Abnormality of cellular immune system [Term] id: HP:0001882 name: Leukopenia namespace: medical_genetics def: "An abnormal decreased number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C0023530 is_a: HP:0001881 ! Abnormality of leukocytes [Term] id: HP:0001883 name: Talipes namespace: medical_genetics 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. xref: UMLS:C1301937 is_a: HP:0005656 ! Positional foot deformities [Term] id: HP:0001884 name: Talipes calcaneovalgus namespace: medical_genetics 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 [] xref: UMLS:C0016504 xref: UMLS:C0152237 is_a: HP:0001883 ! Talipes [Term] id: HP:0001885 name: Brachydactyly (2nd-5th toes) namespace: medical_genetics synonym: "Brachydactyly, toes 2,4, and 5" EXACT [] xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0205439 xref: UMLS:C0221357 is_a: HP:0001831 ! Brachydactyly (feet) [Term] id: HP:0001886 name: Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0027540 xref: UMLS:C0029443 xref: UMLS:C0151313 xref: UMLS:C0205108 xref: UMLS:C0347981 is_a: HP:0000763 ! Sensory neuropathy is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001888 name: Lymphopenia namespace: medical_genetics def: "A reduced number of `lymphocytes` (CL:0000542) in the blood." [HPO:probinson] synonym: "Lymphocytopenia" EXACT [] xref: UMLS:C0024312 xref: UMLS:C1963164 is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0001889 name: Megaloblastic anemia namespace: medical_genetics xref: UMLS:C0002888 is_a: HP:0001903 ! Anemia [Term] id: HP:0001890 name: Autoimmune hemolytic anemia namespace: medical_genetics def: "An autoimmune form of `hemolytic anemia` (HP:0001878)." [HPO:probinson] synonym: "Hemolytic anemia, autoimmune" EXACT [] xref: UMLS:C0002878 xref: UMLS:C0002880 xref: UMLS:C0443146 is_a: HP:0001878 ! Hemolytic anemia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001891 name: Iron deficiency anemia namespace: medical_genetics synonym: "Iron-deficiency anemia" EXACT [] xref: UMLS:C0162316 is_a: HP:0001903 ! Anemia [Term] id: HP:0001892 name: Bleeding diathesis namespace: medical_genetics alt_id: HP:0004849 alt_id: HP:0004862 alt_id: HP:0004865 alt_id: HP:0008183 def: "An abnormal susceptibility to bleeding because of a defect in coagulation. Bleeding diatheses are classified with respect to vascular, platelet and coagulation defects." [HPO:curators] 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" RELATED [] synonym: "Bleeding tendency" EXACT [] synonym: "mild-to-moderate bleeding tendencies" RELATED [] synonym: "moderate bleeding diathesis" RELATED [] synonym: "moderate-severe bleeding tendencies" RELATED [] synonym: "Variable bleeding tendencies" EXACT [] xref: UMLS:C0019080 xref: UMLS:C0205081 xref: UMLS:C0205082 xref: UMLS:C1299392 xref: UMLS:C1458140 xref: UMLS:C1519275 xref: UMLS:C1842091 xref: UMLS:C1881878 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0001894 name: Thrombocytosis namespace: medical_genetics xref: UMLS:C0836924 is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0001895 name: Normochromic anemia namespace: medical_genetics xref: UMLS:C0235983 is_a: HP:0001903 ! Anemia [Term] id: HP:0001896 name: Reticulocytopenia namespace: medical_genetics def: "A reduced number of `reticulocytes` (CL:0000558) in the peripheral blood." [HPO:probinson] xref: UMLS:C0858867 is_a: HP:0004312 ! Abnormality of reticulocytes [Term] id: HP:0001897 name: Normocytic anemia namespace: medical_genetics 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 is_a: HP:0001903 ! Anemia [Term] id: HP:0001898 name: Increased red blood cell mass namespace: medical_genetics def: "The presence of an increased mass of red blood cells in the circulation." [HPO:probinson] xref: UMLS:C1853288 is_a: HP:0001901 ! Polycythemia [Term] id: HP:0001899 name: Increased hematocrit namespace: medical_genetics xref: UMLS:C0239935 is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0001900 name: Increased hemoglobin namespace: medical_genetics xref: UMLS:C0549448 is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0001901 name: Polycythemia namespace: medical_genetics 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: UMLS:C0032461 xref: UMLS:C1527405 is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0001902 name: Giant platelets namespace: medical_genetics xref: UMLS:C0333864 is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0001903 name: Anemia namespace: medical_genetics def: "A reduction in `erythrocytes` (CL:0000232) 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 [] xref: UMLS:C0002871 xref: UMLS:C1000483 is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0001904 name: Autoimmune neutropenia namespace: medical_genetics def: "Autoimmune-induced `neutropenia` (HP:0001875)." [HPO:probinson] xref: UMLS:C0340971 is_a: HP:0001875 ! Neutropenia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001905 name: Congenital thrombocytopenia namespace: medical_genetics xref: UMLS:C0272278 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0001906 name: Mild thrombocytopenia namespace: medical_genetics xref: UMLS:C1856453 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0001907 name: Thromboembolism namespace: medical_genetics synonym: "Thromboembolic disease" EXACT [] synonym: "Thromboembolic events" EXACT [] xref: UMLS:C0040038 xref: UMLS:C0857496 is_a: HP:0001872 ! Abnormality of thrombocytes is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0001908 name: Hypoplastic anemia namespace: medical_genetics def: "Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia." [HPO:probinson] xref: UMLS:C0178416 is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001909 name: Leukemia namespace: medical_genetics def: "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:curators] xref: UMLS:C0023418 is_a: HP:0001881 ! Abnormality of leukocytes is_a: HP:0004377 ! Hematological neoplasia [Term] id: HP:0001910 name: Mild hemolytic anemia namespace: medical_genetics xref: UMLS:C0002878 xref: UMLS:C0312853 xref: UMLS:C0547040 xref: UMLS:C1858586 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001911 name: Abnormality of granulocytes namespace: medical_genetics alt_id: HP:0005438 def: "An abnormality of `granulocytes` (CL:0000094)." [HPO:probinson] synonym: "Abnormality of neutrophils" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0018183 xref: UMLS:C0027950 xref: UMLS:C0948762 xref: UMLS:C1704258 xref: UMLS:C2238207 is_a: HP:0010974 ! Abnormality of myeloid leukocytes [Term] id: HP:0001912 name: Abnormality of basophils namespace: medical_genetics def: "A `basophils` (CL:0000767) abnormality." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0004827 xref: UMLS:C1704258 xref: UMLS:C1883362 xref: UMLS:C2237945 is_a: HP:0001911 ! Abnormality of granulocytes [Term] id: HP:0001913 name: Granulocytopenia namespace: medical_genetics def: "An abnormally reduced number of `granulocytes` (CL:0000094) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C0001824 is_a: HP:0001911 ! Abnormality of granulocytes [Term] id: HP:0001915 name: Aplastic anemia namespace: medical_genetics 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: UMLS:C0002874 is_a: HP:0001876 ! Pancytopenia [Term] id: HP:0001917 name: Renal amyloidosis namespace: medical_genetics def: "A form of `amyloidosis` (HP:0011034) that affects the `kidney` (FMA:7203)." [HPO:probinson] xref: UMLS:C0268382 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0001918 name: Renal insufficiency, progressive namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C1565489 is_a: HP:0000082 ! Abnormality of renal physiology [Term] id: HP:0001919 name: Acute renal failure namespace: medical_genetics xref: UMLS:C0022660 is_a: HP:0000083 ! Renal failure [Term] id: HP:0001920 name: Renal artery stenosis namespace: medical_genetics def: "The presence of `stenosis` (MPATH:80) of the `renal artery` (FMA:14751)." [HPO:probinson] xref: UMLS:C0035067 is_a: HP:0008776 ! Abnormality of the renal artery is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0001922 name: Vacuolated lymphocytes namespace: medical_genetics 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:C0005767 xref: UMLS:C0005768 xref: UMLS:C0024264 xref: UMLS:C0042219 xref: UMLS:C0442800 xref: UMLS:C0521450 xref: UMLS:C1293134 xref: UMLS:C1836855 xref: UMLS:C2200256 is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0001923 name: Reticulocytosis namespace: medical_genetics def: "An elevantion in the number of `reticulocytes` (CL:0000558) (immature erythrocytes) in the peripheral blood circulation." [HPO:probinson] synonym: "Increased reticulocyte count" EXACT [] synonym: "Increased reticulocytes" EXACT [] xref: UMLS:C0206160 xref: UMLS:C0595863 xref: UMLS:C0853718 is_a: HP:0004312 ! Abnormality of reticulocytes [Term] id: HP:0001924 name: Sideroblastic anemia namespace: medical_genetics xref: UMLS:C0002896 is_a: HP:0001903 ! Anemia [Term] id: HP:0001926 name: Mild anemia namespace: medical_genetics xref: UMLS:C1858586 is_a: HP:0001903 ! Anemia [Term] id: HP:0001927 name: Acanthocytosis namespace: medical_genetics alt_id: HP:0005552 def: "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." [HPO:probinson] synonym: "Acanthocytes" EXACT [] synonym: "Red cell acanthocytosis" EXACT [] xref: UMLS:C0000886 xref: UMLS:C1862626 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0001928 name: Abnormality of coagulation namespace: medical_genetics def: "An abnormality of the process of `blood coagulation` (GO:0007596)." [HPO:probinson] synonym: "Abnormal blood coagulation studies" EXACT [] synonym: "Coagulation abnormalities" EXACT [] synonym: "Coagulation abnormality" EXACT [] synonym: "Haemorrhagic disorders" EXACT [HPO:sdoelken] xref: UMLS:C0000768 xref: UMLS:C0005767 xref: UMLS:C0005768 xref: UMLS:C0005778 xref: UMLS:C0005779 xref: UMLS:C0008976 xref: UMLS:C0205161 xref: UMLS:C0441509 xref: UMLS:C0557651 xref: UMLS:C1328723 xref: UMLS:C1704258 xref: UMLS:C1846821 xref: UMLS:C2347472 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0001929 name: Factor XI deficiency namespace: medical_genetics xref: UMLS:C0015523 xref: UMLS:C1414498 is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0001930 name: Nonspherocytic hemolytic anemia namespace: medical_genetics xref: UMLS:C0002878 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001931 name: Hypochromic anemia namespace: medical_genetics 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). xref: UMLS:C0002884 xref: UMLS:C1412331 is_a: HP:0001903 ! Anemia [Term] id: HP:0001932 name: Leukocyte inclusion bodies (Dohle-like bodies) namespace: medical_genetics synonym: "Leukocyte inclusion bodies" EXACT [] xref: UMLS:C0007637 xref: UMLS:C0023516 xref: UMLS:C1995017 is_a: HP:0001881 ! Abnormality of leukocytes [Term] id: HP:0001933 name: Subcutaneous hemorrhage namespace: medical_genetics xref: UMLS:C0019080 xref: UMLS:C0205523 xref: UMLS:C0443315 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0011028 ! Abnormality of blood circulation created_by: peter creation_date: 2008-02-28T07:14:00Z [Term] id: HP:0001934 name: Persistent bleeding after trauma namespace: medical_genetics synonym: "Excessive bleeding after minor trauma" EXACT [] synonym: "Prolonged bleeding after minor trauma" EXACT [] xref: UMLS:C0019080 xref: UMLS:C0026193 xref: UMLS:C0043251 xref: UMLS:C0175677 xref: UMLS:C0205165 xref: UMLS:C0205322 xref: UMLS:C0439590 xref: UMLS:C0442802 xref: UMLS:C1510467 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0001935 name: Microcytic anemia namespace: medical_genetics 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 is_a: HP:0001903 ! Anemia [Term] id: HP:0001936 name: Idiopathic thrombocytopenia namespace: medical_genetics xref: UMLS:C0043117 xref: UMLS:C0920163 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0001937 name: Microangiopathic hemolytic anemia namespace: medical_genetics xref: UMLS:C0221021 xref: UMLS:C1268935 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001939 name: Abnormality of metabolism/homeostasis namespace: medical_genetics alt_id: HP:0002146 synonym: "Laboratory abnormality" EXACT [] synonym: "Metabolism abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0025519 xref: UMLS:C0025520 xref: UMLS:C1704258 xref: UMLS:C1853129 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001941 name: Acidosis namespace: medical_genetics alt_id: HP:0001940 comment: Acidosis is a condition in which there is excessive acid in the body fluids. synonym: "acidemia" EXACT [HPO:SKOEHLER] xref: UMLS:C0001122 is_a: HP:0004360 ! Abnormality of acid-base homeostasis [Term] id: HP:0001942 name: Metabolic acidosis namespace: medical_genetics xref: UMLS:C0220981 is_a: HP:0001941 ! Acidosis [Term] id: HP:0001943 name: Hypoglycemia namespace: medical_genetics def: "A `decreased concentration` (PATO:0001163) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670)." [HPO:curators] synonym: "Hypoglycaemia " EXACT [] xref: UMLS:C0020615 is_a: HP:0011015 ! Abnormality of blood glucose concentration [Term] id: HP:0001944 name: Dehydration namespace: medical_genetics xref: UMLS:C0011175 xref: UMLS:C1963090 is_a: HP:0011032 ! Abnormality of fluid regulation [Term] id: HP:0001945 name: Fever namespace: medical_genetics 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: UMLS:C0015967 xref: UMLS:C0424755 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0001946 name: Ketosis namespace: medical_genetics xref: UMLS:C0022638 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0001947 name: Renal tubular acidosis namespace: medical_genetics xref: UMLS:C0001126 is_a: HP:0000124 ! Renal tubular dysfunction is_a: HP:0001941 ! Acidosis [Term] id: HP:0001948 name: Alkalosis namespace: medical_genetics xref: UMLS:C0002063 is_a: HP:0004360 ! Abnormality of acid-base homeostasis [Term] id: HP:0001949 name: Hypokalemic alkalosis namespace: medical_genetics xref: UMLS:C0004775 xref: UMLS:C0085570 is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001950 name: Respiratory alkalosis namespace: medical_genetics xref: UMLS:C0002064 is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001951 name: Episodic ammonia intoxication namespace: medical_genetics xref: UMLS:C1839541 is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis [Term] id: HP:0001952 name: Abnormal glucose tolerance namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Glucose tolerance decreased" EXACT [] xref: MP:0005291 xref: UMLS:C0178665 xref: UMLS:C0205216 xref: UMLS:C0235401 xref: UMLS:C0392756 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0001953 name: Diabetic ketosis namespace: medical_genetics xref: UMLS:C0011880 is_a: HP:0000819 ! Diabetes mellitus is_a: HP:0001946 ! Ketosis [Term] id: HP:0001954 name: Fever, episodic namespace: medical_genetics alt_id: HP:0005962 alt_id: HP:0005966 alt_id: HP:0005980 def: "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators] 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:C0015967 xref: UMLS:C0277799 xref: UMLS:C0424755 xref: UMLS:C1455761 xref: UMLS:C1704628 is_a: HP:0001945 ! Fever [Term] id: HP:0001955 name: Unexplained fevers namespace: medical_genetics def: "Episodes of fever for which no infectious cause can be identified." [HPO:curators] xref: UMLS:C1844662 is_a: HP:0001945 ! Fever [Term] id: HP:0001956 name: Truncal obesity namespace: medical_genetics alt_id: HP:0008885 def: "Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:curators] xref: UMLS:C0311277 xref: UMLS:C0547040 is_a: HP:0001513 ! Obesity [Term] id: HP:0001958 name: Nonketotic hypoglycemia namespace: medical_genetics xref: UMLS:C1865292 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001959 name: Polydipsia namespace: medical_genetics xref: UMLS:C0085602 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0001960 name: Hypokalemic metabolic alkalosis namespace: medical_genetics xref: UMLS:C0740898 is_a: HP:0001949 ! Hypokalemic alkalosis [Term] id: HP:0001961 name: Hypoplastic heart namespace: medical_genetics xref: UMLS:C0018787 xref: UMLS:C0543481 xref: UMLS:C1281570 is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001962 name: Palpitations namespace: medical_genetics xref: UMLS:C0030252 is_a: HP:0001665 ! Abnormality of cardiac conduction [Term] id: HP:0001963 name: Abnormal speech discrimination namespace: medical_genetics 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:C0012632 xref: UMLS:C0032854 xref: UMLS:C0037820 xref: UMLS:C0542537 xref: UMLS:C1836752 xref: UMLS:C1848207 is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0001964 name: Aplasia/Hypoplasia of metatarsal bones namespace: medical_genetics 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 [] xref: UMLS:C0025584 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1836192 xref: UMLS:C1844714 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 namespace: medical_genetics def: "Abnormality of the `scalp` (FMA:46494)." [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. xref: UMLS:C0000768 xref: UMLS:C0036270 xref: UMLS:C1278997 xref: UMLS:C1704258 xref: UMLS:C2240381 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0001966 name: Mesangial abnormality namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0017655 xref: UMLS:C1704258 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0001967 name: Diffuse mesangial sclerosis namespace: medical_genetics synonym: "Mesangial sclerosis" EXACT [] synonym: "Renal biopsy shows diffuse mesangial sclerosis" EXACT [] xref: UMLS:C0194073 xref: UMLS:C0268747 xref: UMLS:C1547282 xref: UMLS:C1863240 is_a: HP:0001966 ! Mesangial abnormality [Term] id: HP:0001969 name: Tubulointerstitial abnormality namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1704258 is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0001970 name: Tubulointerstitial nephritis namespace: medical_genetics synonym: "Interstitial nephritis" EXACT [] xref: UMLS:C0027707 xref: UMLS:C0041349 is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0001971 name: Hypersplenism namespace: medical_genetics def: "A malfunctioning of the `spleen` (FMA:7196) 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: UMLS:C0020532 is_a: HP:0001743 ! Abnormality of the spleen [Term] id: HP:0001972 name: Macrocytic anemia namespace: medical_genetics xref: UMLS:C0002886 is_a: HP:0001903 ! Anemia [Term] id: HP:0001973 name: Immune thrombocytopenia namespace: medical_genetics synonym: "Autoimmune thrombocytopenia" EXACT [] xref: UMLS:C0242584 xref: UMLS:C0272286 is_a: HP:0001873 ! Thrombocytopenia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001974 name: Leukocytosis namespace: medical_genetics def: "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C0023518 is_a: HP:0001881 ! Abnormality of leukocytes [Term] id: HP:0001975 name: Glanzmann thrombasthenia namespace: medical_genetics xref: UMLS:C0040015 is_a: HP:0001928 ! Abnormality of coagulation is_a: HP:0004807 ! Thrombasthenia [Term] id: HP:0001976 name: Antithrombin III deficiency namespace: medical_genetics def: "An `abnormality of coagulation` (HP:0001928) related to a `decreased concentration` (PATO:0001163) of `antithrombin-III` (PR:000003252)." [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: "Decreased antithrombin iii" EXACT [] xref: UMLS:C0238665 xref: UMLS:C0272375 xref: UMLS:C1412610 xref: UMLS:C1865147 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0001977 name: Thrombosis namespace: medical_genetics xref: UMLS:C0040053 is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0001978 name: Extramedullary hematopoiesis namespace: medical_genetics 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. xref: UMLS:C0018952 is_a: HP:0001871 ! Abnormality of the hematopoietic system [Term] id: HP:0001979 name: Large vacuolated foam cells ('NP cells') on bone marrow biopsy namespace: medical_genetics synonym: "Bone marrow foam cells" EXACT [] synonym: "Large vacuolated foam cells on bone marrow biopsy" EXACT [] xref: UMLS:C0005954 xref: UMLS:C0007634 xref: UMLS:C0016390 xref: UMLS:C0549177 xref: UMLS:C1856560 xref: UMLS:C1980010 is_a: HP:0004333 ! Foam cells on bone marrow biopsy [Term] id: HP:0001980 name: Megaloblastic bone marrow namespace: medical_genetics comment: A megaloblast is an abnormally large nucleated red blood cell found especially in people having pernicious anemia. xref: UMLS:C0238801 is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0001981 name: Schistocytosis namespace: medical_genetics def: "The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood." [HPO:probinson] synonym: "Schistocytes" EXACT [] xref: UMLS:C0221282 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0001982 name: Sea-blue histiocytosis namespace: medical_genetics def: "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." [HPO:probinson, pmid:8797061] synonym: "'Sea blue' histiocytes" EXACT [] synonym: "Sea-blue histiocyte" EXACT [] xref: UMLS:C0333836 is_a: HP:0004311 ! Abnormality of macrophages [Term] id: HP:0001983 name: Reduced lymphocyte surface expression of CD43 (sialophorin) namespace: medical_genetics def: "A reduction in the expression of CD43 on the cell surface of `lymphocytes` (CL:0000542)." [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 [] xref: UMLS:C0005773 xref: UMLS:C0074479 xref: UMLS:C0205148 xref: UMLS:C0332452 xref: UMLS:C1420364 is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0001984 name: Intolerance to protein namespace: medical_genetics xref: UMLS:C0033684 xref: UMLS:C0202202 xref: UMLS:C0231199 xref: UMLS:C1744706 xref: UMLS:C2355652 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0001985 name: Hypoketotic hypoglycemia namespace: medical_genetics xref: UMLS:C1856438 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001986 name: Hypertonic dehydration namespace: medical_genetics synonym: "Hyperosmolar dehydration" EXACT [] xref: UMLS:C1112601 xref: UMLS:C1847428 is_a: HP:0001944 ! Dehydration [Term] id: HP:0001987 name: Hyperammonemia namespace: medical_genetics def: "An increased concentration of `ammonia` (CHEBI:16134) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C0220994 is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis [Term] id: HP:0001988 name: Recurrent hypoglycemia namespace: medical_genetics def: "`Recurrent` (PATO:0000427) episodes of `decreased concentration` (PATO:0001163) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670)." [HPO:gcarletti] synonym: "Hypoglycemic episodes" EXACT [] synonym: "Recurrent hypoglycaemia" RELATED [] synonym: "Recurrent hypoglycemic episodes" EXACT [] xref: UMLS:C0745153 xref: UMLS:C1846288 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001989 name: Early severe fetal akinesia sequence namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C1276035 xref: UMLS:C1279919 xref: UMLS:C1519275 is_a: HP:0001558 ! Decreased fetal movement [Term] id: HP:0001991 name: Aplasia/Hypoplasia of the toes namespace: medical_genetics def: "Absence or hypoplasia of toes." [HPO:curators] synonym: "Aplastic/hypoplastic phalanges (feet)" EXACT [] xref: UMLS:C0016504 xref: UMLS:C0040357 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0347981 xref: UMLS:C0543481 xref: UMLS:C1848845 is_a: HP:0001780 ! Abnormality of the toes is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001992 name: Organic aciduria namespace: medical_genetics xref: UMLS:C0241775 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0001993 name: Ketoacidosis namespace: medical_genetics xref: UMLS:C0220982 is_a: HP:0001941 ! Acidosis is_a: HP:0001946 ! Ketosis [Term] id: HP:0001994 name: Renal Fanconi syndrome namespace: medical_genetics 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 xref: UMLS:C1857397 is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0001995 name: Hyperchloremic acidosis namespace: medical_genetics xref: UMLS:C0085569 is_a: HP:0001941 ! Acidosis [Term] id: HP:0001996 name: Chronic metabolic acidosis namespace: medical_genetics xref: UMLS:C0205191 xref: UMLS:C0220981 xref: UMLS:C0311400 xref: UMLS:C1524026 xref: UMLS:C1547296 xref: UMLS:C1555457 xref: UMLS:C1735903 is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0001997 name: Gout namespace: medical_genetics alt_id: HP:0001368 def: "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." [HPO:sdoelken] synonym: "Gouty arthritis" EXACT [] xref: UMLS:C0003868 xref: UMLS:C0018099 is_a: HP:0001369 ! Arthritis is_a: HP:0002149 ! Hyperuricemia [Term] id: HP:0001998 name: Neonatal hypoglycemia namespace: medical_genetics xref: UMLS:C0158986 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001999 name: Facial dysmorphism namespace: medical_genetics def: "An abnormal morphology (form) of the face or its components." [HPO:probinson] 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. synonym: "Dysmorphic facial features" EXACT [] synonym: "Dysmorphic facies" EXACT [] synonym: "Peculiar facies" EXACT [] xref: UMLS:C0015450 xref: UMLS:C0266617 xref: UMLS:C0282631 xref: UMLS:C0424503 xref: UMLS:C0432072 xref: UMLS:C0524465 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002000 name: Short columella namespace: medical_genetics 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. synonym: "Columella, short" EXACT [] xref: UMLS:C0225431 xref: UMLS:C1504610 xref: UMLS:C1522549 xref: UMLS:C1806781 xref: UMLS:C1820372 xref: UMLS:C1857479 xref: UMLS:C2350002 is_a: HP:0009929 ! Abnormality of the columella [Term] id: HP:0002002 name: Deep philtrum namespace: medical_genetics xref: UMLS:C1839797 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0002003 name: Large forehead namespace: medical_genetics xref: UMLS:C1839783 is_a: HP:0002007 ! Frontal bossing [Term] id: HP:0002004 name: Unusual facies namespace: medical_genetics comment: Replace these terms with more exact descriptions. synonym: "Distinctive facies" EXACT [] synonym: "Peculiar face" EXACT [] synonym: "Unusual facial appearance" EXACT [] xref: UMLS:C0015450 xref: UMLS:C0282631 xref: UMLS:C1281591 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0002006 name: Facial cleft namespace: medical_genetics xref: UMLS:C0685787 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002007 name: Frontal bossing namespace: medical_genetics alt_id: HP:0000254 def: "The presence of an unusually prominent forehead." [HPO:curators] synonym: "Broad, prominent forehead" EXACT [] synonym: "Forehead prominent" EXACT [] synonym: "Frontal prominence" EXACT [] synonym: "High, prominent forehead" EXACT [] synonym: "Prominent forehead" EXACT [] xref: UMLS:C0016540 xref: UMLS:C0205250 xref: UMLS:C0205402 xref: UMLS:C0221354 xref: UMLS:C0239676 xref: UMLS:C0332464 xref: UMLS:C1299351 xref: UMLS:C1837260 xref: UMLS:C1849266 xref: UMLS:C1855408 xref: UMLS:C2226974 is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0002009 name: Potter facies namespace: medical_genetics xref: UMLS:C0266619 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0002010 name: Narrow maxilla namespace: medical_genetics xref: UMLS:C1851835 is_a: HP:0000326 ! Abnormality of the maxilla [Term] id: HP:0002011 name: Abnormality of the central nervous system namespace: medical_genetics def: "An abnormality of the `central nervous system` (FMA:55675)." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0927232 xref: UMLS:C1269563 xref: UMLS:C1704258 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002012 name: Abnormality of the abdominal organs namespace: medical_genetics def: "An abnormality of the `viscera of the abdomen` (FMA:259123)." [HPO:probinson] comment: The abdominal organs comprise the stomach, small and large intestines, liver, pancreas, bile tract, and spleen. synonym: "Gastrointestinal tract defects" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0017189 xref: UMLS:C0178784 xref: UMLS:C0243067 xref: UMLS:C0521362 xref: UMLS:C1281182 xref: UMLS:C1559265 xref: UMLS:C1704258 is_a: HP:0001438 ! Abnormality of the abdomen [Term] id: HP:0002013 name: Vomiting namespace: medical_genetics xref: UMLS:C0042963 is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002014 name: Diarrhea namespace: medical_genetics xref: UMLS:C0011991 xref: UMLS:C1963091 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002015 name: Dysphagia namespace: medical_genetics alt_id: HP:0002569 def: "Difficulty in swallowing." [HPO:curators] synonym: "Poor swallowing" EXACT [] synonym: "Swallowing difficulties" EXACT [] synonym: "Swallowing difficulty" EXACT [] xref: UMLS:C0011168 xref: UMLS:C1853381 is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0002017 name: Nausea and vomiting namespace: medical_genetics xref: UMLS:C0027497 xref: UMLS:C0042963 xref: UMLS:C1963179 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0002018 name: Nausea namespace: medical_genetics xref: UMLS:C0027497 xref: UMLS:C1963179 is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002019 name: Constipation namespace: medical_genetics alt_id: HP:0002241 alt_id: HP:0003786 def: "A chronic tendency to constipation." [HPO:probinson] synonym: "Chronic constipation" EXACT [] xref: UMLS:C0009806 xref: UMLS:C0401149 xref: UMLS:C1855664 xref: UMLS:C1963087 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002020 name: Gastroesophageal reflux namespace: medical_genetics synonym: "Gastroesophageal reflux disease" EXACT [] xref: UMLS:C0017168 is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0002021 name: Pyloric stenosis namespace: medical_genetics def: "An abnormal narrowing of the `pylorus` (FMA:14581)." [HPO:probinson] comment: Pyloric stenosis occurs in the first few months of life. xref: UMLS:C0034194 is_a: HP:0004400 ! Abnormality of the pylorus [Term] id: HP:0002022 name: Feeding difficulties namespace: medical_genetics alt_id: HP:0002016 synonym: "Feeding problems" EXACT [] synonym: "Poor feeding" EXACT [] xref: UMLS:C0232466 xref: UMLS:C0576456 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0002023 name: Anal atresia namespace: medical_genetics alt_id: HP:0001550 def: "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] synonym: "Imperforate anus" RELATED [] xref: UMLS:C0003466 is_a: HP:0004378 ! Abnormality of the anus [Term] id: HP:0002024 name: Malabsorption namespace: medical_genetics synonym: "Intestinal malabsorption" EXACT [] xref: UMLS:C0024523 xref: UMLS:C1963165 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002025 name: Anal stenosis namespace: medical_genetics def: "Abnormal narrowing of the anal opening." [HPO:curators] xref: UMLS:C0262374 is_a: HP:0004378 ! Abnormality of the anus [Term] id: HP:0002027 name: Abdominal pain namespace: medical_genetics xref: UMLS:C0000737 is_a: HP:0001438 ! Abnormality of the abdomen [Term] id: HP:0002028 name: Chronic diarrhea namespace: medical_genetics xref: UMLS:C0401151 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002031 name: Abnormality of the esophagus namespace: medical_genetics def: "An abnormality of the `esophagus` (FMA:7131)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0014876 xref: UMLS:C1278919 xref: UMLS:C1704258 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0002032 name: Esophageal atresia namespace: medical_genetics 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: UMLS:C0014850 is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0002033 name: Poor suck namespace: medical_genetics def: "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators] xref: UMLS:C1837142 is_a: HP:0002022 ! Feeding difficulties [Term] id: HP:0002034 name: Abnormality of the rectum namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0034896 xref: UMLS:C1278926 xref: UMLS:C1704258 xref: UMLS:C1998809 is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0002035 name: Rectal prolapse namespace: medical_genetics xref: UMLS:C0034888 xref: UMLS:C1868686 is_a: HP:0002034 ! Abnormality of the rectum [Term] id: HP:0002036 name: Hiatus hernia namespace: medical_genetics def: "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)." [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). synonym: "Hiatal hernia" EXACT [] xref: UMLS:C0019291 is_a: HP:0002577 ! Abnormality of the stomach created_by: peter creation_date: 2008-02-20T11:28:00Z [Term] id: HP:0002037 name: Inflammatory bowel disease namespace: medical_genetics xref: UMLS:C0021390 is_a: HP:0002242 ! Abnormality of the intestine is_a: HP:0004386 ! Gastrointestinal inflammatory disorder [Term] id: HP:0002038 name: Protein avoidance namespace: medical_genetics xref: UMLS:C1839531 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0002039 name: Anorexia namespace: medical_genetics xref: UMLS:C0003123 xref: UMLS:C0426579 xref: UMLS:C1963063 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0002040 name: Esophageal varices namespace: medical_genetics xref: UMLS:C0014867 is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0002041 name: Intractable diarrhea namespace: medical_genetics xref: UMLS:C0011991 xref: UMLS:C0205269 xref: UMLS:C1963091 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002043 name: Esophageal stricture namespace: medical_genetics xref: UMLS:C0014866 is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0002044 name: Zollinger-Ellison syndrome namespace: medical_genetics xref: UMLS:C0043515 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0002045 name: Hypothermia namespace: medical_genetics 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: UMLS:C0020672 xref: UMLS:C0413252 xref: UMLS:C2364050 is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002046 name: Intolerance to heat and fever namespace: medical_genetics synonym: "Intolerance to heat and fevers" EXACT [] xref: UMLS:C0015967 xref: UMLS:C0018837 xref: UMLS:C0221500 xref: UMLS:C0231199 xref: UMLS:C0424755 xref: UMLS:C1744706 xref: UMLS:C2355652 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002047 name: Malignant hyperthermia namespace: medical_genetics 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" EXACT [] synonym: "Malignant hyperthermia with anesthesia" EXACT [] xref: UMLS:C0002903 xref: UMLS:C0002930 xref: UMLS:C0024591 xref: UMLS:C0278134 xref: UMLS:C2219802 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002048 name: Renal cortical atrophy namespace: medical_genetics def: "`Atrophy` (MPATH:127) of the `cortex of the kidney` (FMA:15581)." [HPO:probinson] xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022646 xref: UMLS:C0022655 xref: UMLS:C0235946 xref: UMLS:C0341698 is_a: HP:0011035 ! Abnormality of the renal cortex [Term] id: HP:0002049 name: Proximal renal tubular acidosis namespace: medical_genetics synonym: "Proximal tubular acidosis" EXACT [] synonym: "Renal tubular acidosis, proximal" EXACT [] xref: UMLS:C0001122 xref: UMLS:C0001126 xref: UMLS:C0022677 xref: UMLS:C0205107 xref: UMLS:C0268435 is_a: HP:0000124 ! Renal tubular dysfunction is_a: HP:0001941 ! Acidosis [Term] id: HP:0002050 name: Macroorchidism, postpubertal namespace: medical_genetics xref: UMLS:C1263023 is_a: HP:0000053 ! Macroorchidism [Term] id: HP:0002051 name: Prominent jaw namespace: medical_genetics xref: UMLS:C1839784 is_a: HP:0000303 ! Mandibular prognathia [Term] id: HP:0002053 name: Receding chin namespace: medical_genetics xref: UMLS:C1850067 is_a: HP:0000331 ! Small chin [Term] id: HP:0002054 name: Heavy supraorbital ridges namespace: medical_genetics xref: UMLS:C1845107 is_a: HP:0000336 ! Prominent supraorbital ridges [Term] id: HP:0002055 name: Curved linear dimple below the lower lip namespace: medical_genetics xref: UMLS:C0205132 xref: UMLS:C0205134 xref: UMLS:C0332471 xref: UMLS:C0458583 xref: UMLS:C1280389 is_a: HP:0000178 ! Abnormality of lower lip [Term] id: HP:0002056 name: Glabellar abnormality namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0442019 xref: UMLS:C1704258 is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0002057 name: Prominent glabella namespace: medical_genetics xref: UMLS:C1860247 is_a: HP:0002056 ! Glabellar abnormality [Term] id: HP:0002058 name: Myopathic facies namespace: medical_genetics 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 [] synonym: "Stiff, myopathic facies" EXACT [] xref: UMLS:C0015450 xref: UMLS:C0221170 xref: UMLS:C0332615 xref: UMLS:C1281591 is_a: HP:0010628 ! Facial nerve palsy [Term] id: HP:0002059 name: Cerebral atrophy namespace: medical_genetics alt_id: HP:0006890 def: "Atrophy affecting the cerebrum." [HPO:sdoelken] synonym: "MRI may show atrophy of the cerebrum" EXACT [] synonym: "Supratentorial atrophy" RELATED [] xref: UMLS:C0024485 xref: UMLS:C0039452 xref: UMLS:C0228174 xref: UMLS:C0235946 xref: UMLS:C0242202 xref: UMLS:C0333641 xref: UMLS:C1280654 xref: UMLS:C1547282 xref: UMLS:C2183255 is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0002060 name: Abnormality of the cerebrum namespace: medical_genetics def: "An abnormality of the `telencephalon` (FMA:62000), which is also known as the cerebrum." [HPO:probinson] synonym: "Abnormality of the telencephalon" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0039452 xref: UMLS:C0228174 xref: UMLS:C0242202 xref: UMLS:C1280654 xref: UMLS:C1704258 is_a: HP:0100547 ! Abnormality of the forebrain [Term] id: HP:0002061 name: Lower limb spasticity namespace: medical_genetics xref: UMLS:C1271100 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002062 name: Abnormality of the pyramidal tracts namespace: medical_genetics def: "An abnormality of the pyramidal system of motor neurons, 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] synonym: "Pyramidal tract disease" RELATED [] xref: UMLS:C0000768 xref: UMLS:C0012634 xref: UMLS:C0034229 xref: UMLS:C0234132 xref: UMLS:C0263548 xref: UMLS:C1185740 xref: UMLS:C1704258 xref: UMLS:C1846493 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002063 name: Rigidity namespace: medical_genetics xref: UMLS:C0026837 xref: UMLS:C0700109 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002064 name: Spastic gait namespace: medical_genetics xref: UMLS:C0231687 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002066 name: Gait ataxia namespace: medical_genetics alt_id: HP:0002379 def: "A type of `ataxia` (HP:0001251) characterized by the impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] synonym: "Ataxic gait" EXACT [] xref: UMLS:C0751837 is_a: HP:0001251 ! Ataxia is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002067 name: Bradykinesia namespace: medical_genetics 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:curators] xref: UMLS:C0233565 is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002068 name: Dysphagia, neuromuscular namespace: medical_genetics xref: UMLS:C0011168 xref: UMLS:C1979768 is_a: HP:0002015 ! Dysphagia [Term] id: HP:0002069 name: Generalized tonic-clonic seizures namespace: medical_genetics alt_id: HP:0007252 def: "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) in which 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." [HPO:curators] 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:C0036572 xref: UMLS:C0205246 xref: UMLS:C0494475 is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0002070 name: Limb ataxia namespace: medical_genetics def: "A kind of `ataxia` (HP:0001251) 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 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002071 name: Extrapyramidal signs namespace: medical_genetics synonym: "Extrapyramidal dysfunction" EXACT [] synonym: "Extrapyramidal symptoms" EXACT [] synonym: "Extrapyramidal syndrome" EXACT [] xref: UMLS:C0015371 xref: UMLS:C0031847 xref: UMLS:C0234133 xref: UMLS:C0277785 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002072 name: Chorea namespace: medical_genetics 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: "Choreic movements" EXACT [] synonym: "Choreiform movements" EXACT [] xref: UMLS:C0008489 is_a: HP:0004305 ! Involuntary muscle contractions [Term] id: HP:0002073 name: Progressive cerebellar ataxia namespace: medical_genetics synonym: "Cerebellar ataxia, progressive" EXACT [] xref: UMLS:C0007758 xref: UMLS:C0205329 xref: UMLS:C0393525 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002074 name: Autofluorescent lipopigment in neurons namespace: medical_genetics xref: UMLS:C0027882 xref: UMLS:C0544711 xref: UMLS:C0950695 is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0002075 name: Dysdiadochokinesis namespace: medical_genetics alt_id: HP:0002426 def: "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." [HPO:curators] comment: Inability to perform rapid, alternating movements. synonym: "Dysdiadochokinesia" EXACT [] xref: UMLS:C0234979 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002076 name: Migraine namespace: medical_genetics 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: UMLS:C0149931 xref: UMLS:C0205267 xref: UMLS:C1168188 is_a: HP:0002315 ! Headache [Term] id: HP:0002077 name: Migraine with aura namespace: medical_genetics def: "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." [HPO:probinson, pmid:15304572] xref: UMLS:C0149931 xref: UMLS:C0236018 xref: UMLS:C1420466 is_a: HP:0002076 ! Migraine [Term] id: HP:0002078 name: Truncal ataxia namespace: medical_genetics def: "A kind of `ataxia` (HP:0001251) that affects the proximal musculature, especially that involved in gait stability." [HPO:probinson] 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:C0427190 xref: UMLS:C1836397 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002079 name: Hypoplasia of the corpus callosum namespace: medical_genetics def: "Underdevelopment of the corpus callosum." [HPO:curators] synonym: "Hypoplasia of corpus callosum" EXACT [] synonym: "Hypoplastic of the corpus callosum" EXACT [] synonym: "Small corpus callosum" EXACT [] xref: UMLS:C0010090 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1846150 is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0002080 name: Intention tremor namespace: medical_genetics def: "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:curators] xref: UMLS:C0234376 is_a: HP:0001337 ! Tremor [Term] id: HP:0002081 name: Memory loss namespace: medical_genetics xref: UMLS:C0002622 xref: UMLS:C0751295 is_a: HP:0002354 ! Memory impairment [Term] id: HP:0002083 name: Migraine without aura namespace: medical_genetics 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: UMLS:C0149931 xref: UMLS:C0236018 xref: UMLS:C1420466 is_a: HP:0002076 ! Migraine [Term] id: HP:0002084 name: Encephalocele namespace: medical_genetics alt_id: HP:0002736 comment: A congenital gap in the skull that usually results in a protrusion of brain material. synonym: "Cranium bifidum" EXACT [] xref: UMLS:C0014065 xref: UMLS:C0265541 is_a: HP:0000929 ! Abnormality of the skull is_a: HP:0007319 ! Malformation of the central nervous system [Term] id: HP:0002085 name: Occipital encephalocele namespace: medical_genetics xref: UMLS:C0014067 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0002086 name: Abnormality of the respiratory system namespace: medical_genetics def: "An abnormality of the `respiratory system` (FMA:7158), which include the airways, lungs, and the respiratory muscles." [HPO:probinson] synonym: "Respiratory abnormality" EXACT [] xref: UMLS:C1260922 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002087 name: Abnormality of the upper respiratory tract namespace: medical_genetics def: "An abnormality of the `upper respiratory tract` (FMA:45661)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0178987 xref: UMLS:C0458827 xref: UMLS:C1704258 is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0002088 name: Abnormality of the lung namespace: medical_genetics def: "An abnormality of the `lung` (FMA:7195)." [HPO:probinson] synonym: "Abnormality of the lungs" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0024109 xref: UMLS:C1704258 is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0002089 name: Pulmonary hypoplasia namespace: medical_genetics synonym: "Hypoplastic lung" EXACT [] synonym: "Hypoplastic lungs" EXACT [] synonym: "Lung hypoplasia" EXACT [] xref: UMLS:C0265783 xref: UMLS:C1849187 xref: UMLS:C1855355 is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0002090 name: Pneumonia namespace: medical_genetics xref: UMLS:C0032285 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002091 name: Restrictive lung disease namespace: medical_genetics xref: UMLS:C0085581 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002092 name: Pulmonary hypertension namespace: medical_genetics alt_id: HP:0006546 synonym: "Pulmonary artery hypertension" EXACT [] xref: UMLS:C0020542 xref: UMLS:C1832154 xref: UMLS:C1963220 is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0002620 ! Systemic artery abnormality is_a: HP:0004890 ! Elevated pulmonary artery pressure [Term] id: HP:0002093 name: Respiratory insufficiency namespace: medical_genetics alt_id: HP:0006542 synonym: "Respiratory failure" EXACT [] synonym: "Respiratory impairment" EXACT [] synonym: "Respiratory insufficiency/failure" EXACT [] xref: UMLS:C0035229 xref: UMLS:C0231174 xref: UMLS:C0680095 xref: UMLS:C0748358 xref: UMLS:C1145670 is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002094 name: Dyspnea namespace: medical_genetics xref: UMLS:C0013404 xref: UMLS:C2024878 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002095 name: Recurrent pneumonia namespace: medical_genetics synonym: "Multiple pulmonary infections" EXACT [] synonym: "Pulmonary infection" EXACT [] synonym: "Pulmonary infections" EXACT [] synonym: "Recurrent pulmonary infections" EXACT [] xref: UMLS:C0439064 xref: UMLS:C0694550 xref: UMLS:C0876973 xref: UMLS:C1859117 is_a: HP:0002090 ! Pneumonia is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002096 name: Pneumonia due to immunodeficiency namespace: medical_genetics xref: UMLS:C0021051 xref: UMLS:C0032285 is_a: HP:0002090 ! Pneumonia [Term] id: HP:0002097 name: Emphysema namespace: medical_genetics alt_id: HP:0006534 synonym: "Emphysema especially at bases" EXACT [] xref: UMLS:C0013990 xref: UMLS:C0034067 xref: UMLS:C0178499 xref: UMLS:C0205555 xref: UMLS:C1626935 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002098 name: Respiratory distress namespace: medical_genetics xref: UMLS:C0476273 is_a: HP:0002094 ! Dyspnea [Term] id: HP:0002099 name: Asthma namespace: medical_genetics 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:curators] synonym: "Bronchial asthma" EXACT [] xref: UMLS:C0004096 xref: UMLS:C1869116 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002100 name: Aspiration pneumonia namespace: medical_genetics xref: UMLS:C0032290 is_a: HP:0002090 ! Pneumonia [Term] id: HP:0002101 name: Abnormal lung lobation namespace: medical_genetics alt_id: HP:0009753 def: "Defects in the formation of pulmonary lobules." [HPO:curators] synonym: "Defective lung lobation" EXACT [] xref: UMLS:C0024109 xref: UMLS:C0685695 xref: UMLS:C1278908 xref: UMLS:C1856032 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002102 name: Pleuritis namespace: medical_genetics def: "Inflammation of the pleura." [HPO:sdoelken] synonym: "Pleurisy" EXACT [HPO:sdoelken] xref: UMLS:C0032231 xref: UMLS:C1535535 is_a: HP:0002103 ! Abnormality of the pleura [Term] id: HP:0002103 name: Abnormality of the pleura namespace: medical_genetics def: "An abnormality of the `pulmonary pleura` (FMA:9734), the thin, transparent membrane which covers the lungs and lines the inside of the chest walls." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0032225 xref: UMLS:C1279036 xref: UMLS:C1704258 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002104 name: Apnea namespace: medical_genetics alt_id: HP:0005936 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: "Apneic episodes" EXACT [] synonym: "Apnoea" EXACT [] xref: UMLS:C0003578 xref: UMLS:C1838679 xref: UMLS:C1963065 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002105 name: Hemoptysis namespace: medical_genetics def: "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:curators] xref: UMLS:C0019079 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002106 name: Recurrent aspiration pneumonia namespace: medical_genetics xref: UMLS:C0747651 is_a: HP:0002100 ! Aspiration pneumonia [Term] id: HP:0002107 name: Pneumothorax namespace: medical_genetics xref: UMLS:C0032326 xref: UMLS:C1963215 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002108 name: Spontaneous pneumothorax namespace: medical_genetics xref: UMLS:C0149781 is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0002109 name: Abnormality of the bronchi namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0006255 xref: UMLS:C1704258 is_a: HP:0005607 ! Abnormality of the tracheobronchial system [Term] id: HP:0002110 name: Bronchiectasis namespace: medical_genetics xref: UMLS:C0006267 is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0002111 name: Restrictive respiratory insufficiency namespace: medical_genetics synonym: "Pulmonary function tests show restrictive deficit" EXACT [] synonym: "Restrictive respiratory disease" EXACT [] synonym: "Restrictive respiratory syndrome" EXACT [] xref: UMLS:C0011155 xref: UMLS:C0024119 xref: UMLS:C0162429 xref: UMLS:C0443288 xref: UMLS:C1547282 xref: UMLS:C1609528 xref: UMLS:C1864456 xref: UMLS:C1968799 xref: UMLS:C2003852 is_a: HP:0002091 ! Restrictive lung disease [Term] id: HP:0002113 name: Pulmonary infiltrates namespace: medical_genetics synonym: "Pulmonic infiltration" EXACT [] xref: UMLS:C0235896 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002115 name: Sparse or absent hair namespace: medical_genetics xref: UMLS:C0574763 is_a: HP:0001595 ! Abnormality of the hair [Term] id: HP:0002116 name: Deficiency of speech development namespace: medical_genetics synonym: "Impaired speech development" EXACT [] xref: UMLS:C0011155 xref: UMLS:C0020119 xref: UMLS:C0162429 xref: UMLS:C0221099 xref: UMLS:C0233715 xref: UMLS:C0243107 xref: UMLS:C0678723 xref: UMLS:C0684336 xref: UMLS:C0871408 xref: UMLS:C1527148 xref: UMLS:C1623416 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002117 name: Speech delay namespace: medical_genetics synonym: "Delayed speech development" EXACT [] xref: UMLS:C0241210 xref: UMLS:C1836708 is_a: HP:0002116 ! Deficiency of speech development [Term] id: HP:0002118 name: Abnormality of the cerebral ventricles namespace: medical_genetics def: "Abnormality of the `cerebral ventricles` (FMA:275917)." [HPO:probinson] comment: The `cerebral ventricles` (FMA:275917) comprise the two `lateral ventricles` (FMA:78448), the `third ventricle` (FMA:78454) and the `fourth ventricle` (FMA:78469). xref: UMLS:C0000768 xref: UMLS:C0007799 xref: UMLS:C1704258 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002119 name: Ventriculomegaly namespace: medical_genetics alt_id: HP:0002447 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:C0007799 xref: UMLS:C0264733 xref: UMLS:C0442800 xref: UMLS:C0549177 xref: UMLS:C0682716 xref: UMLS:C0877064 xref: UMLS:C1185718 xref: UMLS:C1293134 xref: UMLS:C1531647 xref: UMLS:C1837334 xref: UMLS:C1857703 xref: UMLS:C1862374 is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002120 name: Cerebral cortical atrophy namespace: medical_genetics alt_id: HP:0006835 synonym: "Cerebral cortex atrophy" EXACT [] synonym: "Cortical atrophy" EXACT [] synonym: "Neuroimaging shows cortical atrophy" EXACT [] xref: UMLS:C0235946 xref: UMLS:C0679575 xref: UMLS:C1547282 xref: UMLS:C1861441 is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0002121 name: Absence seizures namespace: medical_genetics def: "Recurrent absence seizures are `generalized seizures` (HP:0002197) that are characterized by a sudden cessation of motor activity and by a blank facial expression with flickering of the eyelids. There is no convulsive muscular activity or loss of postural control." [HPO:probinson] synonym: "Petit mal seizure" EXACT [] xref: UMLS:C0014553 is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0002122 name: Mental retardation, mild to moderate namespace: medical_genetics alt_id: HP:0002192 synonym: "mild to moderate mental retardation" EXACT [] xref: UMLS:C0025362 xref: UMLS:C1299392 xref: UMLS:C1861865 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002123 name: Myoclonic seizures namespace: medical_genetics alt_id: HP:0006902 def: "Myoclonic seizures are sudden, brief losses of consciousness and postural tone not associated with tonic muscular contractions. Myoclonic seizures may involve one body part or the entire body. In the latter case, the myoclonic seizure is accompanied by a violent fall but not by loss of consciousness." [HPO:curators] xref: UMLS:C0014550 is_a: HP:0001250 ! Seizures [Term] id: HP:0002124 name: Hypotonic seizures namespace: medical_genetics xref: UMLS:C1836509 is_a: HP:0001250 ! Seizures [Term] id: HP:0002125 name: Seizures usually last less than 15 minutes namespace: medical_genetics xref: UMLS:C0036572 xref: UMLS:C0335882 xref: UMLS:C1442447 is_a: HP:0001250 ! Seizures [Term] id: HP:0002126 name: Polymicrogyria namespace: medical_genetics def: "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] xref: UMLS:C0266464 is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0002127 name: Upper motor neuron abnormality namespace: medical_genetics synonym: "Upper motor neuron disorder" EXACT [] synonym: "Upper motor neuron signs" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0012634 xref: UMLS:C0524458 xref: UMLS:C0749870 xref: UMLS:C1704258 is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0002129 name: Cognitive impairment, mild namespace: medical_genetics xref: UMLS:C0338656 xref: UMLS:C0547040 is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0002131 name: Ataxia, episodic namespace: medical_genetics xref: UMLS:C0004134 xref: UMLS:C1455761 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002132 name: Porencephaly namespace: medical_genetics 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:C0151860 xref: UMLS:C0302892 xref: UMLS:C1867983 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002133 name: Status epilepticus namespace: medical_genetics xref: UMLS:C0038220 is_a: HP:0001250 ! Seizures [Term] id: HP:0002134 name: Abnormality of the basal ganglia namespace: medical_genetics alt_id: HP:0006952 def: "Abnormality of the `basal ganglia` (FMA:84013)." [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: "Structural abnormalities in the basal ganglia" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0004781 xref: UMLS:C0678594 xref: UMLS:C1321510 xref: UMLS:C1704258 is_a: HP:0010993 ! Abnormality of the cerebral subcortex [Term] id: HP:0002135 name: Basal ganglia calcification namespace: medical_genetics alt_id: HP:0002485 def: "The presence of `calcium deposition` (MPATH:36) affecting one or more structures of the `basal ganglia` (FMA:84013)." [HPO:probinson] synonym: "Basal ganglia calcifications" EXACT [] synonym: "Basal ganglion calcification" EXACT [] synonym: "Calcification of the basal ganglia" EXACT [] xref: UMLS:C0004781 xref: UMLS:C0006660 xref: UMLS:C0040405 xref: UMLS:C0175895 xref: UMLS:C0439794 xref: UMLS:C1321510 xref: UMLS:C1389280 xref: UMLS:C1533591 xref: UMLS:C1547282 xref: UMLS:C1547980 xref: UMLS:C1879982 is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0002136 name: Broad-based gait namespace: medical_genetics 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:C0856863 xref: UMLS:C1836917 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002138 name: Subarachnoid hemorrhage namespace: medical_genetics def: "`Hemorrhage` (MPATH:119) occurring between the `arachnoid mater` (FMA:9591) and the `pia mater` (FMA:9590)." [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: UMLS:C0038525 is_a: HP:0002170 ! Intracranial hemorrhage [Term] id: HP:0002139 name: Arrhinencephaly namespace: medical_genetics xref: UMLS:C0078982 is_a: HP:0002323 ! Anencephaly [Term] id: HP:0002140 name: Ischemic stroke namespace: medical_genetics xref: UMLS:C0948008 is_a: HP:0001297 ! Stroke [Term] id: HP:0002141 name: Gait imbalance namespace: medical_genetics xref: UMLS:C1836150 is_a: HP:0001288 ! Gait disturbance is_a: HP:0100683 ! Abnormality of balance [Term] id: HP:0002143 name: Abnormality of the spinal cord namespace: medical_genetics def: "An abnormality of the spinal cord (myelon)." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0037925 xref: UMLS:C1278836 xref: UMLS:C1704258 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002144 name: Tethered cord namespace: medical_genetics 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 is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002145 name: Frontotemporal dementia namespace: medical_genetics xref: UMLS:C0338451 is_a: HP:0000726 ! Dementia [Term] id: HP:0002148 name: Hypophosphatemia namespace: medical_genetics def: "An abnormally decreased `phosphate` (CHEBI:18367) concentration in the `blood` (FMA:9670)." [HPO:gcarletti] synonym: "Hypophosphataemia" EXACT [] xref: UMLS:C0085682 is_a: HP:0003111 ! Abnormality of ion homeostasis is_a: HP:0100529 ! Abnormality of phosphate homeostasis [Term] id: HP:0002149 name: Hyperuricemia namespace: medical_genetics def: "An abnormally high level of `uric acid` (CHEBI:27226) in the `blood` (FMA:9670)." [HPO:probinson] synonym: "Hyperuricaemia" EXACT [] xref: UMLS:C0740394 is_a: HP:0004368 ! Increased purine levels [Term] id: HP:0002150 name: Hypercalciuria namespace: medical_genetics synonym: "Hypercalcinuria" EXACT [] xref: UMLS:C0020438 is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0004363 ! Abnormality of calcium homeostasis [Term] id: HP:0002151 name: Increased serum lactate namespace: medical_genetics def: "Abnormally increased level of blood lactate (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:curators] synonym: "Increased blood lactate" EXACT [] xref: UMLS:C0795692 xref: UMLS:C1836440 is_a: HP:0001941 ! Acidosis [Term] id: HP:0002152 name: Hyperproteinemia namespace: medical_genetics def: "An `increased concentration` (PATO:0001162) of `proteins` (CHEBI:36080) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C0267988 is_a: HP:0010876 ! Abnormality of circulating protein level [Term] id: HP:0002153 name: Hyperkalemia namespace: medical_genetics def: "An abnormally increased `potassium` (CHEBI:29103) concentration in the blood." [HPO:probinson] xref: UMLS:C0020461 is_a: HP:0011042 ! Abnormality of potassium homeostasis [Term] id: HP:0002154 name: Hyperglycinemia namespace: medical_genetics def: "An elevated concentration of `glycine` (CHEBI:15428) in the `blood` (FMA:9670)." [HPO:gcarletti, pmid:16902722, pmid:4696900] comment: Normal blood glycine levels are around 200-250 micromole per liter. synonym: "Hyperglycinaemia" EXACT [] xref: UMLS:C0268559 is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010895 ! Abnormality of glycine metabolism [Term] id: HP:0002155 name: Hypertriglyceridemia namespace: medical_genetics alt_id: HP:0003082 def: "An abnormal increase in the level of `triglycerides` (CHEBI:17855) in the `blood` (FMA:9670)." [HPO:probinson] synonym: "Hypertriglyceridemia" EXACT [] synonym: "Increased plasma triglycerides" EXACT [] synonym: "Increased serum triglycerides" EXACT [] synonym: "Increased triglycerides" EXACT [] xref: UMLS:C0020557 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C0750508 xref: UMLS:C0813230 xref: UMLS:C0858038 xref: UMLS:C0858041 xref: UMLS:C1522137 is_a: HP:0003077 ! Hyperlipidemia is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0002156 name: Homocystinuria namespace: medical_genetics def: "An increased concentration of `homocystine` (CHEBI:17485) in the `urine` (FMA:12274)." [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: UMLS:C0019880 xref: UMLS:C1439329 is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010919 ! Abnormality of homocysteine metabolism [Term] id: HP:0002157 name: Azotemia namespace: medical_genetics def: "An increased concentration of `nitrogen compounds` (CHEBI:51143) in the `blood` (FMA:9670)." [HPO:gcarletti] comment: Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. xref: UMLS:C0242528 xref: UMLS:C0554309 is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis [Term] id: HP:0002159 name: Heparan sulfate excretion in urine namespace: medical_genetics xref: UMLS:C0019143 xref: UMLS:C0042036 xref: UMLS:C0042037 xref: UMLS:C0221102 xref: UMLS:C0504085 is_a: HP:0004355 ! Abnormality of proteoglycan metabolism [Term] id: HP:0002160 name: Hyperhomocystinemia namespace: medical_genetics def: "An increased concentration of `homocystine` (CHEBI:17485) in the `blood` (FMA:9670)." [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 is_a: HP:0010919 ! Abnormality of homocysteine metabolism [Term] id: HP:0002161 name: Hyperlysinemia namespace: medical_genetics def: "An increased concentration of `lysine` (CHEBI:25094) in the `blood` (FMA:9670)." [HPO:gcarletti, pmid:4696900] comment: Normal blood lysine levels are around 180-200 micromole per liter. xref: UMLS:C0268553 is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010908 ! Abnormality of lysine metabolism [Term] id: HP:0002162 name: Low posterior hairline namespace: medical_genetics 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. synonym: "Low posterior hair line" EXACT [] xref: UMLS:C1855728 xref: UMLS:C1865008 is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0009553 ! Abnormality of the hairline [Term] id: HP:0002164 name: Nail dysplasia namespace: medical_genetics alt_id: HP:0001793 alt_id: HP:0001794 alt_id: HP:0001797 def: "The presence of `developmental dysplasia` (MPATH:64) of the `nail` (FMA:54326)." [HPO:probinson] synonym: "Dysplastic nails" EXACT [] synonym: "Dystrophic nails" RELATED [] synonym: "Nail dystrophy" RELATED [] synonym: "Onychodysplasia" EXACT [] synonym: "Onychodystrophy" RELATED [] xref: UMLS:C0221260 xref: UMLS:C1834405 xref: UMLS:C1837412 xref: UMLS:C1857047 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0002165 name: Pterygium formation (nails) namespace: medical_genetics xref: UMLS:C0027342 xref: UMLS:C1844643 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0002166 name: Decreased vibratory sense in the lower limbs namespace: medical_genetics 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: "Diminished vibratory sensation in the legs" EXACT [] synonym: "Distal sensory loss, especially vibratory sense" EXACT [] synonym: "Distal vibratory impairment of the lower limbs" EXACT [] xref: UMLS:C0023216 xref: UMLS:C0184304 xref: UMLS:C0205108 xref: UMLS:C0205216 xref: UMLS:C0205555 xref: UMLS:C0234198 xref: UMLS:C0392756 xref: UMLS:C0684336 xref: UMLS:C1140621 xref: UMLS:C1269079 xref: UMLS:C1295585 xref: UMLS:C1705100 xref: UMLS:C1832335 is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0002167 name: Neurological speech impairment namespace: medical_genetics synonym: "Speech disorder" EXACT [] synonym: "Speech impairment" EXACT [] synonym: "Speech impediment" EXACT [] xref: UMLS:C0037817 xref: UMLS:C0037822 xref: UMLS:C0205494 xref: UMLS:C0233715 xref: UMLS:C0521654 xref: UMLS:C0748889 xref: UMLS:C0846595 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002168 name: Scanning speech namespace: medical_genetics xref: UMLS:C0278184 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002169 name: Clonus namespace: medical_genetics xref: UMLS:C0009024 is_a: HP:0002127 ! Upper motor neuron abnormality is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002170 name: Intracranial hemorrhage namespace: medical_genetics def: "`Hemorrhage` (MPATH:119) occurring within the `skull` (FMA:46565)." [HPO:gcarletti] xref: UMLS:C0151699 is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0100659 ! Abnormality of the cerebral vasculature [Term] id: HP:0002171 name: Gliosis namespace: medical_genetics synonym: "Cerebral gliosis" EXACT [] xref: UMLS:C0017639 xref: UMLS:C0863072 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002172 name: Postural instability namespace: medical_genetics xref: UMLS:C1843921 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002173 name: Seizures, hypoglycemic namespace: medical_genetics xref: UMLS:C0020616 xref: UMLS:C0036572 is_a: HP:0001250 ! Seizures [Term] id: HP:0002174 name: Postural tremor namespace: medical_genetics def: "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:curators] xref: UMLS:C0234378 is_a: HP:0001337 ! Tremor [Term] id: HP:0002175 name: Seizures, generalized, associated with fever namespace: medical_genetics xref: UMLS:C0015967 xref: UMLS:C0036572 xref: UMLS:C0205246 xref: UMLS:C0332281 xref: UMLS:C0424755 is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0002176 name: Spinal cord compression namespace: medical_genetics xref: UMLS:C0037926 is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002179 name: Opisthotonus namespace: medical_genetics comment: Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. synonym: "Opisthotonos" EXACT [] xref: UMLS:C0151818 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002180 name: Neurodegeneration namespace: medical_genetics synonym: "Neuro-degenerative disease" EXACT [] xref: UMLS:C0027746 xref: UMLS:C0205494 xref: UMLS:C1285162 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002181 name: Cerebral edema namespace: medical_genetics def: "Abnormal accumulation of fluid in the brain." [HPO:curators] synonym: "Brain edema" EXACT [] synonym: "Brain oedema" EXACT [] xref: UMLS:C0006114 xref: UMLS:C1527311 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002182 name: Seizures occur in absence of intracranial infection or defined pathologic or traumatic cause namespace: medical_genetics xref: UMLS:C0021311 xref: UMLS:C0036572 xref: UMLS:C0332663 xref: UMLS:C0524466 xref: UMLS:C1521733 xref: UMLS:C1524003 xref: UMLS:C1689985 xref: UMLS:C1704788 xref: UMLS:C1709305 xref: UMLS:C2107118 xref: UMLS:C2364133 is_a: HP:0001250 ! Seizures [Term] id: HP:0002183 name: Phonophobia namespace: medical_genetics 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 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002184 name: Hypertonic seizures namespace: medical_genetics xref: UMLS:C1836508 is_a: HP:0001250 ! Seizures [Term] id: HP:0002185 name: Neurofibrillary tangles namespace: medical_genetics 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 may be present" EXACT [] synonym: "Paired helical filaments" EXACT [] xref: UMLS:C0085400 xref: UMLS:C0150312 xref: UMLS:C0449450 is_a: HP:0100314 ! Cerebral inclusion bodies [Term] id: HP:0002186 name: Apraxia namespace: medical_genetics 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] xref: UMLS:C0003635 is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002187 name: Mental retardation, profound namespace: medical_genetics def: "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators] comment: Persons with profound mental retardation generally require constant care. synonym: "Developmental delay, profound" RELATED [] synonym: "Developmental retardation, profound" EXACT [] synonym: "Profound mental retardation" EXACT [] xref: UMLS:C0020796 xref: UMLS:C0025362 xref: UMLS:C0424605 xref: UMLS:C0439808 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002188 name: Delayed myelination namespace: medical_genetics synonym: "Delay in myelination" EXACT [] xref: UMLS:C0205421 xref: UMLS:C0596991 xref: UMLS:C1277241 is_a: HP:0002520 ! Abnormal myelination [Term] id: HP:0002189 name: Excessive daytime sleepiness namespace: medical_genetics xref: UMLS:C0694563 is_a: HP:0002360 ! Sleep disturbances [Term] id: HP:0002190 name: Choroid plexus cyst namespace: medical_genetics def: "A cyst occurring within the `choroid plexus` (FMA:61934) 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 is_a: HP:0007376 ! Abnormality of the choroid plexus [Term] id: HP:0002191 name: Spasticity, progressive namespace: medical_genetics xref: UMLS:C0026838 xref: UMLS:C0205329 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002193 name: Pseudobulbar behavioral symptoms namespace: medical_genetics def: "Individuals with `Pseudobulbar signs` (HP:0002200) often also demonstrate abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc." [HPO:sdoelken] xref: UMLS:C0004941 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality is_a: HP:0002200 ! Pseudobulbar signs [Term] id: HP:0002194 name: Delayed gross motor development namespace: medical_genetics alt_id: HP:0007046 alt_id: HP:0008973 def: "A type of `motor retardation` 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:C0424605 xref: UMLS:C0439806 xref: UMLS:C1513492 xref: UMLS:C1705994 xref: UMLS:C1837658 xref: UMLS:C1845159 xref: UMLS:C1847765 xref: UMLS:C1854381 xref: UMLS:C1855566 is_a: HP:0001270 ! Motor retardation [Term] id: HP:0002195 name: Dysgenesis or agenesis of the cerebellar vermis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000846 xref: UMLS:C0228482 xref: UMLS:C0332907 xref: UMLS:C1281000 xref: UMLS:C2119045 is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0002196 name: Myelopathy namespace: medical_genetics xref: UMLS:C0037928 is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002197 name: Generalized seizures namespace: medical_genetics alt_id: HP:0007339 def: "Recurrent generalized `seizures` (HP:0001250), that is seizures that affect both cerebral hemispheres from the start of the seizure, producing loss of consciousness." [HPO:probinson] comment: Generalized seizures are sub-categorized into several major types: generalized tonic clonic; myoclonic; absence; and atonic. synonym: "Generalized seizures, recurrent" EXACT [] xref: UMLS:C0034897 xref: UMLS:C0234533 is_a: HP:0001250 ! Seizures [Term] id: HP:0002198 name: Enlarged fourth ventricle namespace: medical_genetics synonym: "Dilated fourth ventricle" EXACT [] xref: UMLS:C1847117 xref: UMLS:C1855679 is_a: HP:0002119 ! Ventriculomegaly [Term] id: HP:0002199 name: Seizures due to hypocalcemia namespace: medical_genetics xref: UMLS:C0020598 xref: UMLS:C0036572 is_a: HP:0001250 ! Seizures [Term] id: HP:0002200 name: Pseudobulbar signs namespace: medical_genetics 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 speach (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:C0683368 xref: UMLS:C1457887 xref: UMLS:C1838579 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002202 name: Pleural effusion namespace: medical_genetics def: "The presence of an excessive amount of fluid in the pleural cavity." [HPO:curators] xref: UMLS:C0032227 xref: UMLS:C1253943 xref: UMLS:C2073625 is_a: HP:0002103 ! Abnormality of the pleura [Term] id: HP:0002203 name: Respiratory paralysis namespace: medical_genetics xref: UMLS:C0035232 is_a: HP:0004347 ! Abnormal weakness of muscles of respiration [Term] id: HP:0002204 name: Pulmonary embolism namespace: medical_genetics xref: UMLS:C0034065 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002205 name: Recurrent respiratory infections namespace: medical_genetics alt_id: HP:0002782 synonym: "Frequent respiratory infections" EXACT [] synonym: "Multiple respiratory infections" EXACT [] synonym: "Respiratory infection" EXACT [] synonym: "Respiratory infections" EXACT [] synonym: "Respiratory tract infections" EXACT [] synonym: "Susceptibility to respiratory infections" EXACT [] xref: UMLS:C0012655 xref: UMLS:C0035243 xref: UMLS:C0220898 xref: UMLS:C1264642 xref: UMLS:C1547045 xref: UMLS:C1843426 xref: UMLS:C1853385 xref: UMLS:C1866203 is_a: HP:0002086 ! Abnormality of the respiratory system is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002206 name: Pulmonary fibrosis namespace: medical_genetics xref: UMLS:C0034069 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002207 name: Diffuse reticular or finely nodular infiltrations namespace: medical_genetics xref: UMLS:C0205219 xref: UMLS:C0205232 xref: UMLS:C0205297 xref: UMLS:C0332448 xref: UMLS:C0439739 xref: UMLS:C0687757 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002208 name: Coarse hair namespace: medical_genetics xref: UMLS:C0277959 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002209 name: Sparse scalp hair namespace: medical_genetics alt_id: HP:0002233 def: "Decreased number of `head hairs` (FMA:54241) 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" RELATED [] synonym: "Sparse, thin scalp hair" EXACT [] synonym: "Thin scalp hair" RELATED [] xref: UMLS:C1857042 xref: UMLS:C1863207 is_a: HP:0002556 ! Thin scalp hair is_a: HP:0008070 ! Sparse hair is_a: HP:0100037 ! Abnormality of the scalp hair [Term] id: HP:0002211 name: White forelock namespace: medical_genetics xref: UMLS:C0344312 is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002212 name: Curly hair namespace: medical_genetics xref: UMLS:C0558165 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002213 name: Fine hair namespace: medical_genetics xref: UMLS:C0423867 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002214 name: Blond hair namespace: medical_genetics xref: UMLS:C0239801 is_a: HP:0002286 ! Light colored hair [Term] id: HP:0002215 name: Sparse axillary hair namespace: medical_genetics xref: UMLS:C1858574 is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002216 name: Premature graying of hair namespace: medical_genetics synonym: "Early graying" EXACT [] synonym: "Premature graying" EXACT [] synonym: "Premature greying" EXACT [] synonym: "Premature hair graying" EXACT [] xref: UMLS:C0018494 xref: UMLS:C0263498 xref: UMLS:C0444095 xref: UMLS:C0556636 xref: UMLS:C1269776 xref: UMLS:C1279919 xref: UMLS:C1546660 is_a: HP:0007495 ! Prematurely aged appearance is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002217 name: Slow-growing hair namespace: medical_genetics synonym: "Slow growing hair" EXACT [] xref: UMLS:C1832348 is_a: HP:0001595 ! Abnormality of the hair [Term] id: HP:0002218 name: Silver-gray hair namespace: medical_genetics synonym: "Silver-gray hair color" EXACT [] synonym: "Silvery-gray hair" EXACT [] xref: UMLS:C0009393 xref: UMLS:C1547016 xref: UMLS:C1550604 xref: UMLS:C1836576 xref: UMLS:C1850467 xref: UMLS:C1880121 is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002219 name: Facial hypertrichosis namespace: medical_genetics xref: UMLS:C1851400 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0002220 name: Melanin pigment aggregation in hair shafts namespace: medical_genetics xref: UMLS:C0025196 xref: UMLS:C0031916 xref: UMLS:C0221961 xref: UMLS:C0332621 xref: UMLS:C0439168 xref: UMLS:C1283904 xref: UMLS:C2239267 is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002221 name: Absent axillary hair namespace: medical_genetics xref: UMLS:C1859392 is_a: HP:0002298 ! Absent hair is_a: HP:0100134 ! Abnormality of the axillary hair [Term] id: HP:0002222 name: Sparse eyebrows and eyelashes namespace: medical_genetics synonym: "Sparse eyelashes and eyebrows" EXACT [] xref: UMLS:C0015420 xref: UMLS:C0015422 xref: UMLS:C0578682 xref: UMLS:C1843300 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0000535 ! Sparse eyebrows is_a: HP:0000653 ! Sparse eyelashes [Term] id: HP:0002223 name: Absent eyebrows namespace: medical_genetics synonym: "Scand-absent eyebrows" EXACT [] xref: UMLS:C0431448 xref: UMLS:C1844604 is_a: HP:0000534 ! Abnormality of the eyebrow is_a: HP:0002298 ! Absent hair [Term] id: HP:0002224 name: Woolly hair namespace: medical_genetics xref: UMLS:C0343073 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002225 name: Sparse pubic hair namespace: medical_genetics synonym: "Decreased sexual hair" EXACT [] xref: UMLS:C0018494 xref: UMLS:C0036864 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0444095 xref: UMLS:C1546660 xref: UMLS:C1858573 is_a: HP:0008070 ! Sparse hair is_a: HP:0100133 ! Abnormality of the pubic hair [Term] id: HP:0002226 name: White eyebrows namespace: medical_genetics xref: UMLS:C0007457 xref: UMLS:C0015420 xref: UMLS:C0043157 xref: UMLS:C0220938 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0002227 name: White eyelashes namespace: medical_genetics xref: UMLS:C1836736 is_a: HP:0000499 ! Abnormality of the eyelashes is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002229 name: Alopecia areata namespace: medical_genetics xref: UMLS:C0002171 is_a: HP:0001596 ! Alopecia [Term] id: HP:0002230 name: Generalized hirsutism namespace: medical_genetics def: "Abnormally increased hair growth over much of the entire body." [HPO:curators] xref: UMLS:C1849211 is_a: HP:0001007 ! Hirsutism [Term] id: HP:0002231 name: Sparse body hair namespace: medical_genetics def: "Sparseness of the body hair." [HPO:probinson] xref: UMLS:C1862863 is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002232 name: Patchy alopecia namespace: medical_genetics xref: UMLS:C1862862 is_a: HP:0001596 ! Alopecia [Term] id: HP:0002234 name: Early balding namespace: medical_genetics xref: UMLS:C0574769 xref: UMLS:C1279919 is_a: HP:0010720 ! Abnormal hair growth pattern [Term] id: HP:0002235 name: Pili canaliculi namespace: medical_genetics alt_id: HP:0002285 def: "Uncombable hair." [HPO:probinson] synonym: "Uncombable hair" EXACT [] xref: UMLS:C1860607 xref: UMLS:C1860608 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002236 name: Frontal hair upsweep namespace: medical_genetics def: "Upward and/or sideward growth of anterior hair." [pmid:19125436] synonym: "Cowlick " EXACT [] xref: UMLS:C1841697 xref: UMLS:C1844561 is_a: HP:0010721 ! Abnormal hair whorl [Term] id: HP:0002237 name: Thin hair namespace: medical_genetics xref: UMLS:C0423867 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002239 name: Gastrointestinal hemorrhage namespace: medical_genetics def: "`Hemorrhage` (MPATH:119) affecting the `gastrointestinal tract` (FMA:71132)." [HPO:probinson] synonym: "Gastrointestinal bleeding" EXACT [] synonym: "GI hemorrhage" EXACT [] xref: UMLS:C0017181 xref: UMLS:C1880931 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract is_a: HP:0011029 ! Internal hemorrhage [Term] id: HP:0002240 name: Hepatomegaly namespace: medical_genetics alt_id: HP:0001393 def: "Abnormal `increased size` (PATO:0000586) of the `liver` (FMA:7197)." [HPO:probinson] xref: UMLS:C0019209 is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0003271 ! Visceromegaly [Term] id: HP:0002242 name: Abnormality of the intestine namespace: medical_genetics def: "An abnormality of the `intestine` (FMA:7199)." [HPO:probinson] comment: The intestine (also known as bowel) is comprised of the `small intestine` (FMA:7200) and the `large intestine` (FMA:7201). xref: UMLS:C0000768 xref: UMLS:C0021853 xref: UMLS:C1704258 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0002243 name: Protein-losing enteropathy namespace: medical_genetics xref: UMLS:C0033680 is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002244 name: Abnormality of the small intestine namespace: medical_genetics def: "An abnormality of the `small intestine` (FMA:7200)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0021852 xref: UMLS:C1268998 xref: UMLS:C1704258 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002245 name: Meckel diverticulum namespace: medical_genetics comment: Meckel's diverticulum is a congenital diverticulum located in the distal ileum. xref: UMLS:C0025037 is_a: HP:0001549 ! Abnormality of the ileum [Term] id: HP:0002246 name: Abnormality of the duodenum namespace: medical_genetics def: "An abnormality of the duodenum, i.e., the first section of the small intestine." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0013303 xref: UMLS:C1278921 xref: UMLS:C1704258 is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002247 name: Duodenal atresia namespace: medical_genetics def: "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [HPO:curator] xref: UMLS:C0266174 is_a: HP:0002246 ! Abnormality of the duodenum [Term] id: HP:0002248 name: Hematemesis namespace: medical_genetics xref: UMLS:C0018926 is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002249 name: Melena namespace: medical_genetics xref: UMLS:C0025222 xref: UMLS:C0474585 is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002250 name: Abnormality of the large intestine namespace: medical_genetics def: "Any abnormality of the `large intestine` (FMA:7201)." [HPO:probinson] comment: The large intestine comprises the cecum and colon. xref: UMLS:C0000768 xref: UMLS:C0021851 xref: UMLS:C1268999 xref: UMLS:C1704258 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002251 name: Congenital megacolon namespace: medical_genetics alt_id: HP:0002029 alt_id: HP:0002030 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:curators] synonym: "Aganglionic megacolon" EXACT [] synonym: "Hirschsprung disease" EXACT [] synonym: "Hirschsprung megacolon" EXACT [] synonym: "Megacolon" EXACT [] xref: UMLS:C0019569 xref: UMLS:C0019570 xref: UMLS:C0025160 is_a: HP:0004362 ! Abnormality of the enteric ganglia [Term] id: HP:0002253 name: Colon diverticula namespace: medical_genetics synonym: "Colonic diverticula" EXACT [] xref: UMLS:C0012811 xref: UMLS:C0012819 is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0002254 name: Intermittent diarrhea namespace: medical_genetics xref: UMLS:C0239181 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002255 name: Bloody diarrhea namespace: medical_genetics xref: UMLS:C0151594 is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002256 name: Small bowel diverticula namespace: medical_genetics xref: UMLS:C0267498 is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002257 name: Chronic rhinitis namespace: medical_genetics xref: UMLS:C0008711 is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0002258 name: Microbrachycephaly namespace: medical_genetics xref: UMLS:C1855905 is_a: HP:0000248 ! Brachycephaly [Term] id: HP:0002259 name: Facial muscle weakness, late namespace: medical_genetics xref: UMLS:C0205087 xref: UMLS:C0427055 is_a: HP:0010628 ! Facial nerve palsy [Term] id: HP:0002260 name: Craniofacial dysmorphism namespace: medical_genetics xref: UMLS:C0596392 xref: UMLS:C1737329 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0002262 name: Puffy cheeks namespace: medical_genetics xref: UMLS:C0007966 xref: UMLS:C1533107 xref: UMLS:C1882376 is_a: HP:0000293 ! Full cheeks [Term] id: HP:0002263 name: Exaggerated cupid's bow namespace: medical_genetics 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. 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:C0205402 xref: UMLS:C0226935 xref: UMLS:C0332479 xref: UMLS:C0442801 xref: UMLS:C0458582 xref: UMLS:C0522512 xref: UMLS:C1280388 xref: UMLS:C1850629 is_a: HP:0000177 ! Abnormality of upper lip [Term] id: HP:0002264 name: Eclabion namespace: medical_genetics xref: UMLS:C1848738 is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0002265 name: Large fleshy ears namespace: medical_genetics xref: UMLS:C0554972 is_a: HP:0000400 ! Large ears [Term] id: HP:0002266 name: Focal clonic seizures namespace: medical_genetics xref: UMLS:C0752323 is_a: HP:0001250 ! Seizures [Term] id: HP:0002267 name: Exaggerated startle response namespace: medical_genetics 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: "Increased startle response" EXACT [] xref: UMLS:C1740801 xref: UMLS:C1836014 xref: UMLS:C1848918 is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002268 name: Dystonia, paroxysmal namespace: medical_genetics xref: UMLS:C0013421 xref: UMLS:C0205311 xref: UMLS:C0393593 is_a: HP:0001332 ! Dystonia [Term] id: HP:0002269 name: Neuronal migration disorder namespace: medical_genetics synonym: "Abnormal neuronal migration" EXACT [] synonym: "Migrational brain disorder" EXACT [] xref: UMLS:C0006111 xref: UMLS:C0232902 xref: UMLS:C0600210 xref: UMLS:C1533574 xref: UMLS:C1837231 xref: UMLS:C1837249 xref: UMLS:C1881827 is_a: HP:0007317 ! Heterotopias/abnormal migration [Term] id: HP:0002270 name: Abnormality of the autonomic nervous system namespace: medical_genetics def: "An abnormality of the `autonomic nervous system` (FMA:9905)." [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. xref: UMLS:C0000768 xref: UMLS:C0004388 xref: UMLS:C1305381 xref: UMLS:C1704258 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002271 name: Autonomic dysregulation namespace: medical_genetics def: "An abnormality of the regulation of the `autonomic nervous system` (FMA:9905)." [HPO:probinson] xref: UMLS:C1836729 is_a: HP:0002270 ! Abnormality of the autonomic nervous system [Term] id: HP:0002273 name: Tetraparesis namespace: medical_genetics alt_id: HP:0002338 synonym: "Quadriparesis" EXACT [] xref: UMLS:C0270790 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002274 name: Dementia, progressive namespace: medical_genetics synonym: "Progressive dementia" EXACT [] xref: UMLS:C0205329 xref: UMLS:C0497327 xref: UMLS:C0743039 is_a: HP:0000726 ! Dementia [Term] id: HP:0002275 name: Poor motor coordination namespace: medical_genetics synonym: "Poor gross motor coordination" EXACT [] xref: UMLS:C1848453 xref: UMLS:C1867863 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002276 name: Limb incoordination namespace: medical_genetics synonym: "Incoordination of limb movements" EXACT [] xref: UMLS:C0520966 xref: UMLS:C0596840 xref: UMLS:C1836396 is_a: HP:0002311 ! Incoordination [Term] id: HP:0002277 name: Horner syndrome namespace: medical_genetics alt_id: HP:0000596 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: UMLS:C0019937 xref: UMLS:C0338567 is_a: HP:0000508 ! Ptosis is_a: HP:0000616 ! Miosis is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002278 name: Staring episodes during seizures namespace: medical_genetics xref: UMLS:C0036572 xref: UMLS:C0332189 xref: UMLS:C0423086 xref: UMLS:C1424605 is_a: HP:0001250 ! Seizures [Term] id: HP:0002279 name: Seizures occur in clusters namespace: medical_genetics xref: UMLS:C0036572 xref: UMLS:C1555715 xref: UMLS:C1704332 xref: UMLS:C1709305 is_a: HP:0001250 ! Seizures [Term] id: HP:0002280 name: Enlarged cisterna magna namespace: medical_genetics synonym: "Large cisterna magna" EXACT [] xref: UMLS:C1853377 xref: UMLS:C1861717 is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002281 name: Gray matter heterotopias namespace: medical_genetics 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 dysplasia. The neurons in heterotopia 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." [HPO:curators] xref: UMLS:C1839544 is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0002282 ! Heterotopia [Term] id: HP:0002282 name: Heterotopia namespace: medical_genetics synonym: "Heterotopias" EXACT [] xref: UMLS:C0008519 is_a: HP:0007317 ! Heterotopias/abnormal migration [Term] id: HP:0002283 name: Diffuse brain atrophy namespace: medical_genetics alt_id: HP:0002369 alt_id: HP:0002462 def: "Diffuse unlocalized atrophy of the brain (cerebrum and cerebellum)." [HPO:sdoelken] synonym: "Generalized brain atrophy" EXACT [] synonym: "Generalized cerebral atrophy" EXACT [] xref: UMLS:C0241816 xref: UMLS:C1836799 xref: UMLS:C1857789 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0002284 name: Sparse to absent eyelashes namespace: medical_genetics synonym: "Partial to total absence of eyelashes" EXACT [] synonym: "Scant-absent eyelashes" EXACT [] synonym: "Sparse/absent eyebrows" EXACT [] synonym: "Sparse/absent eyelashes" EXACT [] xref: UMLS:C0015422 xref: UMLS:C0431448 xref: UMLS:C0439175 xref: UMLS:C0439810 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1689985 xref: UMLS:C1843005 xref: UMLS:C1844609 xref: UMLS:C2107118 is_a: HP:0000653 ! Sparse eyelashes [Term] id: HP:0002286 name: Light colored hair namespace: medical_genetics xref: UMLS:C1858571 is_a: HP:0005599 ! Hair hypopigmentation [Term] id: HP:0002287 name: Progressive alopecia namespace: medical_genetics xref: UMLS:C1851885 is_a: HP:0001596 ! Alopecia [Term] id: HP:0002288 name: Absent eyebrows and eyelashes namespace: medical_genetics synonym: "Absence of eyebrows and eyelashes" EXACT [] xref: UMLS:C0015420 xref: UMLS:C0015422 xref: UMLS:C0431448 xref: UMLS:C1689985 xref: UMLS:C2077307 xref: UMLS:C2107118 xref: UMLS:C2239119 is_a: HP:0000561 ! Absent eyelashes is_a: HP:0002223 ! Absent eyebrows [Term] id: HP:0002289 name: Alopecia, complete namespace: medical_genetics xref: UMLS:C0002170 xref: UMLS:C0205197 xref: UMLS:C0725685 is_a: HP:0001596 ! Alopecia [Term] id: HP:0002290 name: Poliosis namespace: medical_genetics def: "Circumscribed depigmentation of the hair of the head or the eyelashes." [HPO:curators] xref: UMLS:C0221262 is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002291 name: Sparse, fine hair namespace: medical_genetics synonym: "Short, sparse, fine hair" EXACT [] xref: UMLS:C0205232 xref: UMLS:C0423867 xref: UMLS:C0687757 xref: UMLS:C1806781 xref: UMLS:C1837770 xref: UMLS:C2350002 is_a: HP:0002213 ! Fine hair is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002292 name: Frontal balding namespace: medical_genetics def: "Absence of hair in the anterior midline and/or parietal areas." [pmid:19125436] synonym: "Frontal balding (male pattern baldness)" EXACT [] xref: UMLS:C0162311 xref: UMLS:C0205123 xref: UMLS:C0574769 is_a: HP:0010720 ! Abnormal hair growth pattern [Term] id: HP:0002293 name: Alopecia of scalp namespace: medical_genetics xref: UMLS:C0002170 xref: UMLS:C0036270 xref: UMLS:C1278997 xref: UMLS:C2240381 is_a: HP:0001596 ! Alopecia is_a: HP:0100037 ! Abnormality of the scalp hair [Term] id: HP:0002294 name: Fair hair namespace: medical_genetics xref: UMLS:C1849221 is_a: HP:0002286 ! Light colored hair [Term] id: HP:0002296 name: Hypotrichosis, progressive namespace: medical_genetics def: "Progressively reduced or lacking hair growth." [HPO:curators] xref: UMLS:C0020678 xref: UMLS:C0205329 is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0002297 name: Red hair namespace: medical_genetics xref: UMLS:C0239803 is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002298 name: Absent hair namespace: medical_genetics xref: UMLS:C0574763 is_a: HP:0002115 ! Sparse or absent hair [Term] id: HP:0002299 name: Fine, brittle hair namespace: medical_genetics xref: UMLS:C0205232 xref: UMLS:C0263490 xref: UMLS:C0423867 xref: UMLS:C0439657 xref: UMLS:C0687757 is_a: HP:0002213 ! Fine hair [Term] id: HP:0002300 name: Mutism namespace: medical_genetics xref: UMLS:C0026884 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0002301 name: Hemiplegia namespace: medical_genetics 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: UMLS:C0018991 is_a: HP:0004374 ! Hemiplegia/hemiparesis [Term] id: HP:0002304 name: Akinesia namespace: medical_genetics xref: UMLS:C0085623 is_a: HP:0002374 ! Diminished movement [Term] id: HP:0002305 name: Athetosis namespace: medical_genetics 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: UMLS:C0004158 is_a: HP:0004305 ! Involuntary muscle contractions [Term] id: HP:0002307 name: Drooling namespace: medical_genetics synonym: "sialorrhea" EXACT [HPO:sdoelken] xref: UMLS:C0013132 xref: UMLS:C0037036 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality is_a: HP:0003781 ! Excessive salivation [Term] id: HP:0002308 name: Arnold-Chiari malformation namespace: medical_genetics 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: UMLS:C0003803 xref: UMLS:C0555206 xref: UMLS:C1844744 is_a: HP:0002438 ! Cerebellar malformation [Term] id: HP:0002309 name: Weakness namespace: medical_genetics xref: UMLS:C0004093 xref: UMLS:C1883552 xref: UMLS:C2364118 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002310 name: Orofacial dyskinesia namespace: medical_genetics synonym: "Orofacial dyskinesias" EXACT [] xref: UMLS:C0152115 is_a: HP:0100660 ! Dyskinesis [Term] id: HP:0002311 name: Incoordination namespace: medical_genetics synonym: "Difficulties in coordination" EXACT [] xref: UMLS:C0242414 xref: UMLS:C0520966 xref: UMLS:C0700114 xref: UMLS:C1299586 is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002312 name: Clumsiness namespace: medical_genetics def: "Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects." [HPO:probinson] xref: UMLS:C0233844 is_a: HP:0002311 ! Incoordination [Term] id: HP:0002313 name: Spastic paraparesis namespace: medical_genetics xref: UMLS:C0037771 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002314 name: Degeneration of the lateral corticospinal tracts namespace: medical_genetics synonym: "Degeneration of lateral corticospinal tracts" EXACT [] xref: UMLS:C0011164 xref: UMLS:C0152402 xref: UMLS:C1289518 xref: UMLS:C1880269 is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts [Term] id: HP:0002315 name: Headache namespace: medical_genetics alt_id: HP:0000266 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: UMLS:C0018681 xref: UMLS:C2096315 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002316 name: Mental retardation, moderate to severe namespace: medical_genetics synonym: "Moderate-severe mental retardation" EXACT [] xref: UMLS:C0025362 xref: UMLS:C0036857 xref: UMLS:C0205081 xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1881878 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002317 name: Unsteady gait namespace: medical_genetics synonym: "Gait instability" EXACT [] xref: UMLS:C0231686 xref: UMLS:C1273573 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002318 name: Cervical myelopathy namespace: medical_genetics xref: UMLS:C0149645 is_a: HP:0002196 ! Myelopathy [Term] id: HP:0002319 name: Thin corpus callosum namespace: medical_genetics synonym: "Thinning of the corpus callosum" EXACT [] xref: UMLS:C0010090 xref: UMLS:C0332528 xref: UMLS:C0851184 xref: UMLS:C1853378 is_a: HP:0200010 ! Abnormal thickness of corpus callosum [Term] id: HP:0002321 name: Vertigo namespace: medical_genetics def: "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] synonym: "Dizziness" RELATED [] xref: UMLS:C0042571 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002322 name: Resting tremor namespace: medical_genetics 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:curators] synonym: "Tremor at rest" EXACT [] xref: UMLS:C0035253 xref: UMLS:C0040822 xref: UMLS:C0234379 xref: UMLS:C1963252 xref: UMLS:C2364114 is_a: HP:0001337 ! Tremor [Term] id: HP:0002323 name: Anencephaly namespace: medical_genetics xref: UMLS:C0002902 xref: UMLS:C2021655 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0002324 name: Hydranencephaly namespace: medical_genetics xref: UMLS:C0020225 is_a: HP:0002323 ! Anencephaly [Term] id: HP:0002325 name: Ankle or knee clonus namespace: medical_genetics xref: UMLS:C0003086 xref: UMLS:C0003087 xref: UMLS:C0009024 xref: UMLS:C0022742 xref: UMLS:C0022745 xref: UMLS:C0039316 xref: UMLS:C1283838 xref: UMLS:C1283839 xref: UMLS:C1963703 is_a: HP:0002541 ! Knee and ankle clonus [Term] id: HP:0002326 name: Transient ischemic attack namespace: medical_genetics synonym: "Transient ischemic attacks" EXACT [] xref: UMLS:C0007787 is_a: HP:0001297 ! Stroke [Term] id: HP:0002329 name: Drowsiness namespace: medical_genetics xref: UMLS:C0013144 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0002330 name: Attacks of disabling daytime drowsiness and low alertness namespace: medical_genetics xref: UMLS:C0013144 xref: UMLS:C0018576 xref: UMLS:C0277793 xref: UMLS:C0332169 xref: UMLS:C0699795 xref: UMLS:C1261512 xref: UMLS:C1304680 xref: UMLS:C1550460 xref: UMLS:C1880351 is_a: HP:0002329 ! Drowsiness [Term] id: HP:0002331 name: Headache (with pheochromocytoma) namespace: medical_genetics xref: UMLS:C0018681 xref: UMLS:C0031511 xref: UMLS:C1706920 xref: UMLS:C2096315 is_a: HP:0002315 ! Headache [Term] id: HP:0002332 name: Lack of peer relationships namespace: medical_genetics xref: UMLS:C0332268 xref: UMLS:C0439849 xref: UMLS:C0679739 is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0002333 name: Motor deterioration namespace: medical_genetics xref: UMLS:C1866284 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002334 name: Abnormality of the cerebellar vermis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0228482 xref: UMLS:C1281000 xref: UMLS:C1704258 is_a: HP:0002438 ! Cerebellar malformation [Term] id: HP:0002335 name: Agenesis of cerebellar vermis namespace: medical_genetics synonym: "Cerebellar vermis aplasia" EXACT [] xref: UMLS:C0000846 xref: UMLS:C0228482 xref: UMLS:C0332907 xref: UMLS:C1281000 xref: UMLS:C1861732 xref: UMLS:C2119045 is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0002337 name: Cognitive deficits namespace: medical_genetics xref: UMLS:C0679466 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002339 name: Abnormality of the caudate nucleus namespace: medical_genetics def: "An abnormality of the `caudate nucleus` (FMA:61833)." [HPO:probinson] comment: The caudate nucleus is an elongated crescent-shaped mass lying parallel and adjacent to the lateral ventricle throughout its extent. xref: UMLS:C0000768 xref: UMLS:C0007461 xref: UMLS:C1269580 xref: UMLS:C1704258 is_a: HP:0010994 ! Abnormality of the striatum [Term] id: HP:0002340 name: Caudate atrophy namespace: medical_genetics xref: UMLS:C1858116 is_a: HP:0007374 ! Atrophy/Degeneration involving the caudate nucleus [Term] id: HP:0002341 name: Cervical cord compression namespace: medical_genetics xref: UMLS:C0852866 is_a: HP:0002176 ! Spinal cord compression [Term] id: HP:0002342 name: Mental retardation, moderate namespace: medical_genetics 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, nonsyndromic" EXACT [] synonym: "Moderate mental deficiency" EXACT [] synonym: "Moderate mental retardation" EXACT [] xref: UMLS:C0025362 xref: UMLS:C0205081 xref: UMLS:C0917816 xref: UMLS:C1881878 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002343 name: Normal pressure hydrocephalus namespace: medical_genetics def: "A form of `hydrocephalus` (HP:0000238) 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 is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0002344 name: Progressive neurologic deterioration namespace: medical_genetics synonym: "Neurologic deterioration" EXACT [] synonym: "Neurologic deterioration, progressive" EXACT [] synonym: "Progressive mental deterioration" EXACT [] synonym: "Progressive neurodegeneration" EXACT [] xref: UMLS:C0205329 xref: UMLS:C0234985 xref: UMLS:C1845518 xref: UMLS:C1850767 xref: UMLS:C1854838 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002345 name: Action tremor namespace: medical_genetics def: "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement." [HPO:curators] xref: UMLS:C0234376 is_a: HP:0001337 ! Tremor [Term] id: HP:0002346 name: Head tremor namespace: medical_genetics xref: UMLS:C0239882 is_a: HP:0001337 ! Tremor [Term] id: HP:0002348 name: Seizures, afebrile namespace: medical_genetics xref: UMLS:C0036572 xref: UMLS:C0277797 is_a: HP:0001250 ! Seizures [Term] id: HP:0002349 name: Simple partial seizures namespace: medical_genetics def: "A `partial seizure` (HP:0007359) in which consciousness is maintained." [HPO:probinson] xref: UMLS:C0234974 is_a: HP:0007359 ! Partial seizures [Term] id: HP:0002350 name: Cerebellar cysts namespace: medical_genetics xref: UMLS:C1847762 is_a: HP:0002317 ! Unsteady gait is_a: HP:0002438 ! Cerebellar malformation is_a: HP:0010576 ! Cystic malformations affecting the central nervous system [Term] id: HP:0002351 name: Choreoathetosis, episodic namespace: medical_genetics synonym: "Choreoathetosis, intermittent" EXACT [] xref: UMLS:C0085583 xref: UMLS:C0205267 xref: UMLS:C1455761 is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0002352 name: Leukoencephalopathy namespace: medical_genetics synonym: "Mri shows leukoencephalopathy" EXACT [] xref: UMLS:C0024485 xref: UMLS:C0270612 xref: UMLS:C1547282 xref: UMLS:C2183255 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002353 name: EEG abnormalities namespace: medical_genetics 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: "Electroencephalogram abnormalities" EXACT [] xref: UMLS:C0151611 is_a: HP:0001311 ! Neurophysiological abnormality [Term] id: HP:0002354 name: Memory impairment namespace: medical_genetics xref: UMLS:C0233794 xref: UMLS:C1963167 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002355 name: Difficulty walking namespace: medical_genetics synonym: "Difficulty in walking" EXACT [] xref: UMLS:C0080331 xref: UMLS:C0311394 xref: UMLS:C1299586 xref: UMLS:C2346415 xref: UMLS:C2368355 is_a: HP:0001288 ! Gait disturbance is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0002356 name: Writer's cramp namespace: medical_genetics xref: UMLS:C0154676 xref: UMLS:C0338902 is_a: HP:0004373 ! Focal dystonia [Term] id: HP:0002357 name: Dysphasia namespace: medical_genetics xref: UMLS:C0973461 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002358 name: Seizures, partial, afebrile namespace: medical_genetics xref: UMLS:C0036572 xref: UMLS:C0277797 xref: UMLS:C0728938 xref: UMLS:C1550516 is_a: HP:0007359 ! Partial seizures [Term] id: HP:0002359 name: Frequent falls namespace: medical_genetics xref: UMLS:C0850703 is_a: HP:0002311 ! Incoordination is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0002360 name: Sleep disturbances namespace: medical_genetics 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 disturbance" EXACT [] xref: UMLS:C0037317 xref: UMLS:C0700201 xref: UMLS:C0851578 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002361 name: Psychomotor degeneration namespace: medical_genetics synonym: "Psychomotor deterioration" EXACT [] xref: UMLS:C0868945 xref: UMLS:C1836842 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002362 name: Shuffling gait namespace: medical_genetics xref: UMLS:C0231688 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002363 name: Abnormality of the brainstem namespace: medical_genetics comment: Note: The term 'bulbar' refers to the brainstem. xref: UMLS:C0000768 xref: UMLS:C0006121 xref: UMLS:C1306665 xref: UMLS:C1704258 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002364 name: Cerebellar atrophy, progressive namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0740279 is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0002365 name: Hypoplasia of the brainstem namespace: medical_genetics synonym: "Brainstem hypoplasia" EXACT [] synonym: "Hypoplastic brain stem" EXACT [] synonym: "Hypoplastic brainstem" EXACT [] synonym: "Mri shows brainstem hypoplasia" EXACT [] xref: UMLS:C0006121 xref: UMLS:C0024485 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1306665 xref: UMLS:C1547282 xref: UMLS:C1837232 xref: UMLS:C1847358 xref: UMLS:C2183255 is_a: HP:0007362 ! Aplasia/Hypoplasia of the brainstem [Term] id: HP:0002366 name: Abnormality of the lower motor neurons namespace: medical_genetics alt_id: HP:0007276 synonym: "Lower motor neuron disease" EXACT [] synonym: "Lower motor neuron manifestations" EXACT [] synonym: "Lower motor neuron signs" EXACT [] xref: UMLS:C0205319 xref: UMLS:C0270764 xref: UMLS:C0524459 xref: UMLS:C1865412 is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0002367 name: Visual hallucinations namespace: medical_genetics xref: UMLS:C0233763 is_a: HP:0000738 ! Hallucinations [Term] id: HP:0002368 name: Psychiatric disorders namespace: medical_genetics synonym: "Psychiatric disturbances" EXACT [] xref: UMLS:C0004936 xref: UMLS:C1856060 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0002370 name: Poor coordination namespace: medical_genetics xref: UMLS:C0563243 is_a: HP:0002311 ! Incoordination [Term] id: HP:0002371 name: Loss of speech namespace: medical_genetics xref: UMLS:C0037817 xref: UMLS:C0846595 xref: UMLS:C1517945 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002372 name: Normal interictal EEG namespace: medical_genetics xref: UMLS:C1843146 is_a: HP:0002353 ! EEG abnormalities [Term] id: HP:0002373 name: Febrile seizures namespace: medical_genetics 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: "Febrile seizures may occur" EXACT [] xref: UMLS:C0009952 xref: UMLS:C0595982 xref: UMLS:C1709305 is_a: HP:0001250 ! Seizures [Term] id: HP:0002374 name: Diminished movement namespace: medical_genetics xref: UMLS:C0026649 xref: UMLS:C0205216 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002375 name: Hypokinesia namespace: medical_genetics xref: UMLS:C0086439 is_a: HP:0002374 ! Diminished movement [Term] id: HP:0002376 name: Developmental regression namespace: medical_genetics synonym: "Developmental regression in affected children" EXACT [] synonym: "Neurodevelopmental regression" EXACT [] xref: UMLS:C0008059 xref: UMLS:C0392760 xref: UMLS:C0680063 xref: UMLS:C1314939 xref: UMLS:C1836830 xref: UMLS:C1857121 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002377 name: Cranial nerve palsies can arise with head and neck paragangliomas namespace: medical_genetics xref: UMLS:C0017671 xref: UMLS:C0018670 xref: UMLS:C0151311 xref: UMLS:C1281590 is_a: HP:0002864 ! Paraganglioma of head and neck is_a: HP:0006824 ! Cranial nerve paralysis [Term] id: HP:0002378 name: Hand tremor namespace: medical_genetics xref: UMLS:C0239842 is_a: HP:0001337 ! Tremor [Term] id: HP:0002380 name: Fasciculations namespace: medical_genetics 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] synonym: "Emg shows fasciculations" EXACT [] synonym: "Fasciculation" EXACT [] synonym: "Muscle fasciculation" EXACT [] xref: UMLS:C0013839 xref: UMLS:C0015644 xref: UMLS:C0026649 xref: UMLS:C1547282 is_a: HP:0004305 ! Involuntary muscle contractions [Term] id: HP:0002381 name: Aphasia namespace: medical_genetics xref: UMLS:C0003537 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002382 name: Variable mental retardation namespace: medical_genetics xref: UMLS:C1859755 is_a: HP:0001249 ! Mental retardation is_a: HP:0001325 ! Hypoglycemic coma [Term] id: HP:0002383 name: Encephalitis namespace: medical_genetics xref: UMLS:C0014038 is_a: HP:0002382 ! Variable mental retardation [Term] id: HP:0002384 name: Complex partial seizures namespace: medical_genetics def: "A `partial seizure` (HP:0007359) characterized by impairment or loss of consciousness." [HPO:curators] xref: UMLS:C0149958 is_a: HP:0007359 ! Partial seizures [Term] id: HP:0002385 name: Paraparesis namespace: medical_genetics xref: UMLS:C0221166 is_a: HP:0010551 ! Paraplegia/paraparesis [Term] id: HP:0002386 name: Mental retardation due to repeated episodes of hypoglycemia namespace: medical_genetics xref: UMLS:C0020615 xref: UMLS:C0025362 xref: UMLS:C0205341 xref: UMLS:C0332189 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002387 name: Autonomic dysfunction namespace: medical_genetics alt_id: HP:0007310 xref: UMLS:C0741307 xref: UMLS:C1279919 is_a: HP:0002270 ! Abnormality of the autonomic nervous system [Term] id: HP:0002388 name: Hypertonicity namespace: medical_genetics xref: UMLS:C0235396 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002389 name: Cavum septum pellucidum namespace: medical_genetics 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 xref: UMLS:C1840380 xref: UMLS:C1855485 xref: UMLS:C1861716 is_a: HP:0007375 ! Abnormality of the septum pellucidum [Term] id: HP:0002390 name: Spinal arteriovenous malformation namespace: medical_genetics xref: UMLS:C0348023 is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0100026 ! Arteriovenous malformations [Term] id: HP:0002391 name: Infantile seizures namespace: medical_genetics synonym: "Infantile spasm" EXACT [] synonym: "Infantile spasms" RELATED [] xref: UMLS:C0037769 xref: UMLS:C1839710 is_a: HP:0001250 ! Seizures [Term] id: HP:0002392 name: EEG shows 3-4-Hz spike and multispike slow wave complexes namespace: medical_genetics synonym: "Eeg shows spike and multispike waves, 3-4 hz" EXACT [] xref: UMLS:C0013819 xref: UMLS:C0439482 xref: UMLS:C0439834 xref: UMLS:C0678544 xref: UMLS:C1421479 xref: UMLS:C1547282 xref: UMLS:C1622539 is_a: HP:0010850 ! EEG: spike-wave complexes [Term] id: HP:0002394 name: Walking on tiptoes namespace: medical_genetics xref: UMLS:C0080331 xref: UMLS:C0560414 xref: UMLS:C2346415 xref: UMLS:C2368355 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002395 name: Lower limb hyperreflexia namespace: medical_genetics alt_id: HP:0007288 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:C0023216 xref: UMLS:C0151889 xref: UMLS:C1140621 xref: UMLS:C1269079 xref: UMLS:C1836900 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0002396 name: Cogwheel rigidity namespace: medical_genetics xref: UMLS:C0151564 is_a: HP:0002063 ! Rigidity [Term] id: HP:0002398 name: Degeneration of anterior horn cells namespace: medical_genetics alt_id: HP:0007136 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: "Spinal cord anterior horn cell degeneration" EXACT [] xref: UMLS:C0003154 xref: UMLS:C0007634 xref: UMLS:C0011164 xref: UMLS:C0026609 xref: UMLS:C0037925 xref: UMLS:C0228569 xref: UMLS:C1278836 xref: UMLS:C1517945 xref: UMLS:C1843505 xref: UMLS:C1880269 xref: UMLS:C2339990 is_a: HP:0002127 ! Upper motor neuron abnormality is_a: HP:0006802 ! Abnormality of the anterior horn cells is_a: HP:0007373 ! Atrophy/Degeneration involving motor neurons [Term] id: HP:0002399 name: Speech and language difficulties namespace: medical_genetics synonym: "Speech and language delay" EXACT [] xref: UMLS:C0023012 xref: UMLS:C0037817 xref: UMLS:C0564213 xref: UMLS:C0846595 is_a: HP:0002116 ! Deficiency of speech development [Term] id: HP:0002400 name: Neuronal loss namespace: medical_genetics xref: UMLS:C1850496 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002401 name: Stroke-like episodes namespace: medical_genetics synonym: "Strokelike episodes" EXACT [] xref: UMLS:C0332189 xref: UMLS:C1857287 is_a: HP:0001297 ! Stroke [Term] id: HP:0002402 name: Slowing mental development by 1.5 to 3 years of age namespace: medical_genetics synonym: "Slowing mental development by 15 to 3 years of age" EXACT [] xref: UMLS:C0001779 xref: UMLS:C0439234 xref: UMLS:C0439834 xref: UMLS:C0599735 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002403 name: Positive Romberg sign namespace: medical_genetics 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 is_a: HP:0010870 ! Abnormality of proprioception [Term] id: HP:0002404 name: Thick and elongated superior cerebellar peduncles namespace: medical_genetics synonym: "Long, thickened cerebellar peduncles" EXACT [] synonym: "Thick, elongated superior cerebellar peduncles" EXACT [] xref: UMLS:C0152391 xref: UMLS:C0205166 xref: UMLS:C0205400 xref: UMLS:C0228515 xref: UMLS:C1280412 xref: UMLS:C1281028 xref: UMLS:C1706317 is_a: HP:0002438 ! Cerebellar malformation [Term] id: HP:0002405 name: Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord namespace: medical_genetics xref: UMLS:C0004781 xref: UMLS:C0006121 xref: UMLS:C0007765 xref: UMLS:C0037925 xref: UMLS:C0039729 xref: UMLS:C0221198 xref: UMLS:C1268981 xref: UMLS:C1269896 xref: UMLS:C1278836 xref: UMLS:C1306665 xref: UMLS:C1321510 is_a: HP:0001317 ! Abnormality of the cerebellum is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0002363 ! Abnormality of the brainstem is_a: HP:0010663 ! Abnormality of the thalamus [Term] id: HP:0002406 name: Limb dysmetria namespace: medical_genetics def: "A type of `dysmetria` (HP:0001310) involving the limbs." [HPO:probinson] xref: UMLS:C1854489 is_a: HP:0001310 ! Dysmetria [Term] id: HP:0002407 name: Generalized tonic-clonic seizures (often develop in adolescence) namespace: medical_genetics xref: UMLS:C0001578 xref: UMLS:C0332183 xref: UMLS:C0494475 xref: UMLS:C1999145 is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0002408 name: Cerebral arteriovenous malformation namespace: medical_genetics synonym: "Cerebral av malformations" EXACT [] xref: UMLS:C0917804 is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0100026 ! Arteriovenous malformations [Term] id: HP:0002409 name: Seizures, generalized, afebrile namespace: medical_genetics xref: UMLS:C0036572 xref: UMLS:C0205246 xref: UMLS:C0277797 is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0002410 name: Aqueductal stenosis namespace: medical_genetics 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 xref: UMLS:C0266476 is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002411 name: Myokymia namespace: medical_genetics xref: UMLS:C0684219 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002412 name: Dystonia, episodic namespace: medical_genetics xref: UMLS:C0013421 xref: UMLS:C0393593 xref: UMLS:C1455761 is_a: HP:0001332 ! Dystonia [Term] id: HP:0002413 name: Lesions characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation namespace: medical_genetics xref: UMLS:C0006901 xref: UMLS:C0011304 xref: UMLS:C0017639 xref: UMLS:C0027540 xref: UMLS:C0221198 xref: UMLS:C0334094 xref: UMLS:C0702120 xref: UMLS:C0935624 xref: UMLS:C1280521 xref: UMLS:C1880022 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002414 name: Spina bifida namespace: medical_genetics def: "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open." [HPO:curators] xref: UMLS:C0080178 is_a: HP:0010301 ! Spinal dysraphism [Term] id: HP:0002415 name: Leukodystrophy namespace: medical_genetics xref: UMLS:C0023520 is_a: HP:0007319 ! Malformation of the central nervous system [Term] id: HP:0002416 name: Subependymal cysts namespace: medical_genetics xref: UMLS:C1833431 is_a: HP:0002118 ! Abnormality of the cerebral ventricles is_a: HP:0010576 ! Cystic malformations affecting the central nervous system [Term] id: HP:0002417 name: Seizures often begin with head and eye deviation namespace: medical_genetics alt_id: HP:0002432 synonym: "Seizures often begin focally with head and eye deviation" EXACT [] xref: UMLS:C0018670 xref: UMLS:C0036572 xref: UMLS:C0205234 xref: UMLS:C0239421 xref: UMLS:C0332183 xref: UMLS:C0439659 xref: UMLS:C1281590 is_a: HP:0001250 ! Seizures [Term] id: HP:0002418 name: Abnormality of the midbrain namespace: medical_genetics synonym: "Abnormality of the mesencephalon" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0025462 xref: UMLS:C1280997 xref: UMLS:C1704258 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002419 name: Molar tooth sign on MRI namespace: medical_genetics 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'" EXACT [] synonym: "'molar tooth sign' on brain imaging'" EXACT [] synonym: "'molar tooth' sign on imaging" EXACT [] synonym: "Molar tooth sign on mri" EXACT [] xref: UMLS:C0006104 xref: UMLS:C0011923 xref: UMLS:C0024485 xref: UMLS:C0079595 xref: UMLS:C1269537 xref: UMLS:C1969141 xref: UMLS:C2183255 is_a: HP:0002418 ! Abnormality of the midbrain [Term] id: HP:0002420 name: Deep posterior interpeduncular fossa namespace: medical_genetics xref: UMLS:C1837716 is_a: HP:0002418 ! Abnormality of the midbrain [Term] id: HP:0002421 name: Poor head control namespace: medical_genetics xref: UMLS:C1836038 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002422 name: Cerebral atrophy, progressive namespace: medical_genetics def: "Atrophy affecting the cererbum, which is progressive over time." [HPO:sdoelken] xref: UMLS:C0205329 xref: UMLS:C0235946 is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0002423 name: Long-tract signs namespace: medical_genetics 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 is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002425 name: Anarthria namespace: medical_genetics def: "A defect in the motor ability that enables speech." [HPO:curators] xref: UMLS:C0234517 xref: UMLS:C1045276 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002427 name: Motor aphasia namespace: medical_genetics xref: UMLS:C0003550 is_a: HP:0002381 ! Aphasia [Term] id: HP:0002428 name: Cataplexy often triggered by strong emotions namespace: medical_genetics xref: UMLS:C0007384 xref: UMLS:C0013987 xref: UMLS:C0332183 xref: UMLS:C0442821 xref: UMLS:C1444748 is_a: HP:0002524 ! Cataplexy [Term] id: HP:0002431 name: Children will develop afebrile seizure disorders later in life namespace: medical_genetics xref: UMLS:C0008059 xref: UMLS:C0012634 xref: UMLS:C0014544 xref: UMLS:C0205087 xref: UMLS:C0277797 xref: UMLS:C0376558 xref: UMLS:C0680063 xref: UMLS:C0863106 xref: UMLS:C1999145 is_a: HP:0001250 ! Seizures [Term] id: HP:0002434 name: Secondary generalization may occur namespace: medical_genetics xref: UMLS:C0815106 xref: UMLS:C1709305 is_a: HP:0001250 ! Seizures [Term] id: HP:0002435 name: Meningocele namespace: medical_genetics xref: UMLS:C0025299 xref: UMLS:C1261470 is_a: HP:0007319 ! Malformation of the central nervous system [Term] id: HP:0002436 name: Occipital meningocele namespace: medical_genetics xref: UMLS:C1848652 is_a: HP:0002435 ! Meningocele [Term] id: HP:0002437 name: Seizures occur in clusters over 1 or several days namespace: medical_genetics xref: UMLS:C0036572 xref: UMLS:C0439228 xref: UMLS:C1555715 xref: UMLS:C1704332 xref: UMLS:C1709305 is_a: HP:0002279 ! Seizures occur in clusters [Term] id: HP:0002438 name: Cerebellar malformation namespace: medical_genetics xref: UMLS:C1846143 is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0002439 name: Frontolimbic dementia namespace: medical_genetics xref: UMLS:C1836151 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002441 name: Cognitive defects namespace: medical_genetics xref: UMLS:C1856145 is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0002442 name: Dyscalculia namespace: medical_genetics xref: UMLS:C1411876 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002443 name: Abnormality of the hypothalamus namespace: medical_genetics def: "An abnormality of the `hypothalamus` (FMA:62008)." [HPO:probinson] 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. xref: UMLS:C0000768 xref: UMLS:C0020663 xref: UMLS:C1280712 xref: UMLS:C1704258 is_a: HP:0010662 ! Abnormality of the diencephalon [Term] id: HP:0002444 name: Hypothalamic hamartoma namespace: medical_genetics def: "The presence of a `hamartoma` of the `hypothalamus` (FMA:62008)." [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 is_a: HP:0002443 ! Abnormality of the hypothalamus is_a: HP:0100006 ! Neoplasm of the central nervous system [Term] id: HP:0002445 name: Tetraplegia namespace: medical_genetics xref: UMLS:C0034372 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002446 name: Astrocytosis namespace: medical_genetics xref: UMLS:C0751171 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002448 name: Encephalopathy, progressive namespace: medical_genetics xref: UMLS:C0085584 xref: UMLS:C0205329 xref: UMLS:C1963101 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0002450 name: Abnormality of the motor neurons namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0026609 xref: UMLS:C1704258 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002451 name: Limb dystonia namespace: medical_genetics xref: UMLS:C0751093 is_a: HP:0001332 ! Dystonia [Term] id: HP:0002452 name: Cerebrovascular accident namespace: medical_genetics synonym: "Cerebral vascular events" EXACT [] xref: UMLS:C0038454 xref: UMLS:C1849743 is_a: HP:0001297 ! Stroke [Term] id: HP:0002453 name: Abnormality of the globus pallidus namespace: medical_genetics alt_id: HP:0007040 def: "An abnormality of the `globus pallidus` (FMA:61835)." [HPO:probinson] comment: The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule. xref: UMLS:C0000768 xref: UMLS:C0017651 xref: UMLS:C0205082 xref: UMLS:C1314939 xref: UMLS:C1519275 xref: UMLS:C1704258 is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0002454 name: Eye of the tiger anomaly of globus pallidus namespace: medical_genetics def: "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." [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. xref: UMLS:C0007610 xref: UMLS:C0015392 xref: UMLS:C0017651 xref: UMLS:C0024485 xref: UMLS:C0205099 xref: UMLS:C0205216 xref: UMLS:C0311392 xref: UMLS:C0325115 xref: UMLS:C0392756 xref: UMLS:C0871362 xref: UMLS:C1280202 xref: UMLS:C1547188 xref: UMLS:C1547282 xref: UMLS:C1879652 xref: UMLS:C2183255 is_a: HP:0002453 ! Abnormality of the globus pallidus [Term] id: HP:0002455 name: Muscle weakness, symmetric, proximal (lower limbs more affected than upper limbs) due to motor neuronopathy namespace: medical_genetics xref: UMLS:C0023216 xref: UMLS:C0151786 xref: UMLS:C0205107 xref: UMLS:C0332516 xref: UMLS:C0392760 xref: UMLS:C1140618 xref: UMLS:C1314939 xref: UMLS:C1513492 xref: UMLS:C1705994 is_a: HP:0001324 ! Muscle weakness is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0002456 name: Severe behavioral problems at age 3-4 namespace: medical_genetics synonym: "Severe behavioral problems at age 3-4 years" EXACT [] synonym: "Severe behavioral problems beginning at 3 to 4 years of age" EXACT [] xref: UMLS:C0001779 xref: UMLS:C0205082 xref: UMLS:C0260653 xref: UMLS:C0260657 xref: UMLS:C0439234 xref: UMLS:C0439659 xref: UMLS:C1510829 xref: UMLS:C1519275 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0002457 name: Abnormal head movements namespace: medical_genetics xref: UMLS:C0476217 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002458 name: Mental retardation, mild to severe namespace: medical_genetics synonym: "Delayed development, ranging from mild to severe" EXACT [] synonym: "Mild to severe mental retardation" EXACT [] synonym: "Mild-severe mental retardation" EXACT [] synonym: "Mild-to-severe mental retardation" EXACT [] xref: UMLS:C0025362 xref: UMLS:C0026106 xref: UMLS:C0036857 xref: UMLS:C0205082 xref: UMLS:C0424605 xref: UMLS:C0547040 xref: UMLS:C1514721 xref: UMLS:C1519275 xref: UMLS:C1837502 xref: UMLS:C2348147 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002459 name: Dysautonomia namespace: medical_genetics def: "Malfunctioning of the `autonomic nervous system` (FMA:9905)." [HPO:probinson] comment: Dysautonomia is a general term that refers to any dysfunction of the autonomic nervous system. xref: UMLS:C0013363 is_a: HP:0002270 ! Abnormality of the autonomic nervous system [Term] id: HP:0002460 name: Distal muscle weakness namespace: medical_genetics def: "Reduced strength of the distal musculature." [HPO:curators] synonym: "Distal limb weakness" EXACT [] synonym: "Distal muscular weakness" EXACT [] synonym: "Muscle weakness, distal" EXACT [] synonym: "Weakness of distal muscles" EXACT [] xref: UMLS:C0004093 xref: UMLS:C0026845 xref: UMLS:C0151786 xref: UMLS:C0205108 xref: UMLS:C0427065 xref: UMLS:C1850271 xref: UMLS:C1854024 xref: UMLS:C1883552 xref: UMLS:C1995013 xref: UMLS:C2364118 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0002461 name: Dense calcifications in the cerebellar dentate nucleus namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0086120 xref: UMLS:C0175895 xref: UMLS:C0228509 xref: UMLS:C0439794 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0007352 ! Cerebellar calcifications is_a: HP:0100321 ! Abnormality of the dentate nucleus [Term] id: HP:0002463 name: Language impairment namespace: medical_genetics xref: UMLS:C0023015 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002464 name: Spastic dysarthria namespace: medical_genetics xref: UMLS:C0454596 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002465 name: Poor speech namespace: medical_genetics xref: UMLS:C1848207 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002470 name: Cerebellar ataxia, nonprogressive namespace: medical_genetics xref: UMLS:C0007758 xref: UMLS:C1864820 is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0002471 name: Loss of developmental milestones namespace: medical_genetics xref: UMLS:C0458003 xref: UMLS:C0678723 xref: UMLS:C1517945 xref: UMLS:C2347129 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002472 name: Small cerebral cortex namespace: medical_genetics synonym: "Decreased volume of cerebral cortex" EXACT [] xref: UMLS:C0007776 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0449468 xref: UMLS:C1690016 xref: UMLS:C1837503 is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0002474 name: Expressive language delay namespace: medical_genetics def: "A kind of `language delay` (HP:0002336) characterized by a delay primarily in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [HPO:probinson] xref: UMLS:C0454641 is_a: HP:0000750 ! Impaired language development [Term] id: HP:0002475 name: Meningomyelocele namespace: medical_genetics 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. xref: UMLS:C0025312 is_a: HP:0002435 ! Meningocele [Term] id: HP:0002476 name: Primitive reflexes (palmomental, snout, glabellar) namespace: medical_genetics synonym: "Primitive reflexes" EXACT [] xref: UMLS:C0230040 xref: UMLS:C0422895 xref: UMLS:C0442019 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002478 name: Progressive spastic quadriplegia namespace: medical_genetics synonym: "Progressive spastic quadriparesis" EXACT [] xref: UMLS:C0205329 xref: UMLS:C0877576 xref: UMLS:C1859736 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002479 name: Increased risk of seizures in childhood or adulthood (11-16%) namespace: medical_genetics xref: UMLS:C0035647 xref: UMLS:C0036572 xref: UMLS:C0205217 xref: UMLS:C0231335 xref: UMLS:C0442805 xref: UMLS:C0700597 is_a: HP:0001250 ! Seizures [Term] id: HP:0002480 name: Hepatic encephalopathy namespace: medical_genetics xref: UMLS:C0019151 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002481 name: Poor mobility namespace: medical_genetics xref: UMLS:C0425258 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002482 name: Mental retardation can occur in patients with repeated episodes of dehydration namespace: medical_genetics xref: UMLS:C0011175 xref: UMLS:C0025362 xref: UMLS:C0030705 xref: UMLS:C0205341 xref: UMLS:C0332189 xref: UMLS:C1709305 xref: UMLS:C1963090 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002483 name: Bulbar signs namespace: medical_genetics xref: UMLS:C1856507 is_a: HP:0002363 ! Abnormality of the brainstem [Term] id: HP:0002486 name: Myotonia namespace: medical_genetics def: "Myotonia is characterized by an abnormally slow relaxation of the muscles after voluntary contraction or electrical stimulation. During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand." [HPO:curators] xref: UMLS:C0027125 is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0002487 name: Hyperkinesis namespace: medical_genetics synonym: "Hyperkinesia" EXACT [] xref: UMLS:C0424295 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002488 name: Acute leukemia namespace: medical_genetics synonym: "Acute leukemias" EXACT [] xref: UMLS:C0085669 is_a: HP:0001909 ! Leukemia created_by: peter creation_date: 2008-03-27T10:32:00Z [Term] id: HP:0002489 name: Psychomotor regression namespace: medical_genetics xref: UMLS:C1855019 is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0002490 name: Increased CSF lactate namespace: medical_genetics 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:C0205217 xref: UMLS:C0442805 xref: UMLS:C1167918 xref: UMLS:C1167936 xref: UMLS:C1839423 is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid [Term] id: HP:0002491 name: Spasticity of facial muscles namespace: medical_genetics alt_id: HP:0000313 synonym: "Spasticity of the facial muscles" EXACT [] xref: UMLS:C0015460 xref: UMLS:C0026838 is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001257 ! Spasticity [Term] id: HP:0002492 name: Abnormality of the corticospinal tract namespace: medical_genetics 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:curators] xref: UMLS:C0000768 xref: UMLS:C0936236 xref: UMLS:C1704258 is_a: HP:0002062 ! Abnormality of the pyramidal tracts [Term] id: HP:0002493 name: Corticospinal tract dysfunction namespace: medical_genetics xref: UMLS:C1839042 is_a: HP:0002492 ! Abnormality of the corticospinal tract [Term] id: HP:0002494 name: Abnormal rapid eye movement (REM) sleep namespace: medical_genetics 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 is_a: HP:0000496 ! Abnormality of eye movement is_a: HP:0002360 ! Sleep disturbances [Term] id: HP:0002495 name: Impaired vibratory sensation namespace: medical_genetics 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:curators] synonym: "Decreased vibration sense" EXACT [] synonym: "Decreased vibratory sense" EXACT [] synonym: "Diminished vibratory sense" EXACT [] synonym: "Impaired vibratory sense" EXACT [] xref: UMLS:C0205216 xref: UMLS:C0234198 xref: UMLS:C1295585 xref: UMLS:C1838397 xref: UMLS:C1856692 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0002496 name: Cerebellar ataxia, slowly progressive namespace: medical_genetics alt_id: HP:0007331 synonym: "Cerebellar ataxia, slow progression" EXACT [] xref: UMLS:C0007758 xref: UMLS:C1836301 xref: UMLS:C1864719 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002497 name: Spastic ataxia namespace: medical_genetics xref: UMLS:C1849156 is_a: HP:0001251 ! Ataxia [Term] id: HP:0002498 name: Delayed speech acquisition namespace: medical_genetics xref: UMLS:C1845544 is_a: HP:0000750 ! Impaired language development [Term] id: HP:0002499 name: Mental retardation (moderate to severe in males) namespace: medical_genetics xref: UMLS:C0024554 xref: UMLS:C0025362 xref: UMLS:C0086582 xref: UMLS:C0205081 xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1881878 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002500 name: Abnormality of the cerebral white matter namespace: medical_genetics def: "An abnormality of the `cerebral white matter` (FMA:241998)." [HPO:probinson] synonym: "Cerebral white matter abnormalities" EXACT [] synonym: "Increased white matter abnormalities on t2 signalling" EXACT [] synonym: "MRI shows white matter abnormalities" EXACT [] synonym: "White matter abnormalities" EXACT [] synonym: "White matter abnormalities on mri" EXACT [] synonym: "White matter alterations" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0024485 xref: UMLS:C0037083 xref: UMLS:C0152295 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C0682708 xref: UMLS:C1284115 xref: UMLS:C1515926 xref: UMLS:C1547282 xref: UMLS:C1704258 xref: UMLS:C1855260 xref: UMLS:C1866186 xref: UMLS:C2183255 is_a: HP:0010993 ! Abnormality of the cerebral subcortex [Term] id: HP:0002501 name: Spasticity of pharyngeal muscles namespace: medical_genetics xref: UMLS:C0026838 xref: UMLS:C0031346 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002502 name: Calcifications may be seen in the thalamus, hippocampus, subcortical white matter, and cortex namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0007776 xref: UMLS:C0019564 xref: UMLS:C0039729 xref: UMLS:C0175895 xref: UMLS:C0205397 xref: UMLS:C0682708 xref: UMLS:C0815275 xref: UMLS:C0949582 xref: UMLS:C1176472 xref: UMLS:C1269896 xref: UMLS:C1284077 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0002503 name: Spinocerebellar tract degeneration namespace: medical_genetics synonym: "Degeneration of the spinocerebellar tracts" EXACT [] synonym: "Spinocerebellar degeneration" EXACT [] xref: UMLS:C0011164 xref: UMLS:C0037952 xref: UMLS:C0752211 xref: UMLS:C1866751 xref: UMLS:C1880269 is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0002504 name: Neuropathologic examination shows calcification of the small brain vessels namespace: medical_genetics xref: UMLS:C0006104 xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C0225988 xref: UMLS:C0332128 xref: UMLS:C0876934 xref: UMLS:C1269537 xref: UMLS:C1282841 xref: UMLS:C1533591 xref: UMLS:C1540677 xref: UMLS:C1547282 xref: UMLS:C1555824 xref: UMLS:C1879982 xref: UMLS:C2004054 is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0004934 ! Vascular calcifications [Term] id: HP:0002505 name: Progressive inability to walk namespace: medical_genetics xref: UMLS:C0080331 xref: UMLS:C0205329 xref: UMLS:C0600108 xref: UMLS:C2346415 xref: UMLS:C2368355 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002506 name: Diffuse cerebral atrophy namespace: medical_genetics alt_id: HP:0006954 def: "Diffuse unlocalised atrophy affecting the cerebrum." [HPO:sdoelken] synonym: "Cerebral atrophy, mild, diffuse" EXACT [] synonym: "Diffuse cerebral atrophy on ct and mri" EXACT [] xref: UMLS:C0024485 xref: UMLS:C0205219 xref: UMLS:C0235946 xref: UMLS:C0547040 xref: UMLS:C2183255 is_a: HP:0002059 ! Cerebral atrophy is_a: HP:0002283 ! Diffuse brain atrophy [Term] id: HP:0002507 name: Semilobar holoprosencephaly namespace: medical_genetics 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 is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0002508 name: Malformation of brainstem structures namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0006121 xref: UMLS:C0678594 xref: UMLS:C1306665 is_a: HP:0002363 ! Abnormality of the brainstem [Term] id: HP:0002509 name: Limb hypertonia namespace: medical_genetics xref: UMLS:C1838391 is_a: HP:0002388 ! Hypertonicity [Term] id: HP:0002510 name: Spastic tetraplegia namespace: medical_genetics alt_id: HP:0001280 def: "Spastic paralysis affecting all four limbs." [HPO:curators] synonym: "Spastic quadriplegia" EXACT [] xref: UMLS:C0426970 is_a: HP:0001257 ! Spasticity [Term] id: HP:0002511 name: Alzheimer disease namespace: medical_genetics alt_id: HP:0006878 xref: UMLS:C0002395 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002512 name: Brain stem compression namespace: medical_genetics xref: UMLS:C0270680 is_a: HP:0002363 ! Abnormality of the brainstem [Term] id: HP:0002514 name: Cerebral calcification namespace: medical_genetics def: "The presence of `calcium deposition` (MPATH:36) within brain structures." [HPO:probinson] synonym: "Brain calcification" EXACT [] synonym: "Intracerebral calcifications" EXACT [] synonym: "Intracranial calcification" EXACT [] synonym: "Intracranial calcifications" EXACT [] xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C0240041 xref: UMLS:C0270685 xref: UMLS:C0442111 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0002515 name: Waddling gait namespace: medical_genetics synonym: "'Waddling' gait" EXACT [] xref: UMLS:C0231712 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002516 name: Increased intracranial pressure namespace: medical_genetics xref: UMLS:C0151740 xref: UMLS:C2364324 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002518 name: Abnormality of the periventricular white matter namespace: medical_genetics xref: UMLS:C0228157 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C1705241 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0002519 name: Hypnagogic hallucinations namespace: medical_genetics xref: UMLS:C0233773 is_a: HP:0000738 ! Hallucinations [Term] id: HP:0002520 name: Abnormal myelination namespace: medical_genetics xref: UMLS:C1857704 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002521 name: Hypsarrhythmia namespace: medical_genetics 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: "EEG shows hypsarrhythmia" EXACT [] synonym: "Hypsarrhythmia by EEG" EXACT [] xref: UMLS:C0013819 xref: UMLS:C0684276 xref: UMLS:C1547282 is_a: HP:0002353 ! EEG abnormalities [Term] id: HP:0002522 name: Areflexia in lower limbs namespace: medical_genetics def: "Inability to elicit tendon reflexes in the lower limbs." [HPO:probinson] synonym: "Absent lower limb tendon reflexes" EXACT [] synonym: "Areflexia of lower limbs" EXACT [] synonym: "Areflexia of the lower limbs" EXACT [] synonym: "Areflexia, lower limbs" EXACT [] xref: UMLS:C0023216 xref: UMLS:C0234146 xref: UMLS:C1856694 is_a: HP:0001284 ! Areflexia [Term] id: HP:0002524 name: Cataplexy namespace: medical_genetics xref: UMLS:C0007384 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002525 name: Cataplexy, paroxysmal weakness or paralysis namespace: medical_genetics xref: UMLS:C0004093 xref: UMLS:C0007384 xref: UMLS:C0205311 xref: UMLS:C0522224 xref: UMLS:C1883552 xref: UMLS:C2364097 xref: UMLS:C2364118 is_a: HP:0002524 ! Cataplexy [Term] id: HP:0002526 name: Deficit in nonword repetition (NWR) namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0162429 xref: UMLS:C2018025 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002527 name: Falls namespace: medical_genetics xref: UMLS:C0085639 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002528 name: Granulovacuolar degeneration namespace: medical_genetics 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 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002529 name: Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum namespace: medical_genetics xref: UMLS:C0004781 xref: UMLS:C0006121 xref: UMLS:C0007765 xref: UMLS:C0876934 xref: UMLS:C1268981 xref: UMLS:C1306665 xref: UMLS:C1321510 xref: UMLS:C1540677 xref: UMLS:C1547282 xref: UMLS:C1555824 xref: UMLS:C1850496 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002530 name: Axial dystonia namespace: medical_genetics xref: UMLS:C1836149 is_a: HP:0001332 ! Dystonia [Term] id: HP:0002532 name: Cognitive delay namespace: medical_genetics xref: UMLS:C1864897 is_a: HP:0002337 ! Cognitive deficits [Term] id: HP:0002533 name: Abnormal posturing namespace: medical_genetics comment: Involuntary flexion or extension of the arms and legs. xref: UMLS:C0231471 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002536 name: Abnormal cortical gyration namespace: medical_genetics 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 xref: UMLS:C1856019 xref: UMLS:C1867444 is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0002538 name: Abnormality of the cerebral cortex namespace: medical_genetics def: "An abnormality of the `cerebral cortex` (FMA:61830)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0007776 xref: UMLS:C1704258 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002539 name: Cortical dysplasia namespace: medical_genetics alt_id: HP:0007139 def: "The presence of `developmental dysplasia` (MPATH:64) of the `cerebral cortex` (FMA:61830)." [HPO:probinson] synonym: "Neocortical dysplasia" EXACT [] xref: UMLS:C0334044 xref: UMLS:C0431380 is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0002540 name: Inability to walk namespace: medical_genetics xref: UMLS:C0080331 xref: UMLS:C0600108 xref: UMLS:C2346415 xref: UMLS:C2368355 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002541 name: Knee and ankle clonus namespace: medical_genetics synonym: "Patellar and ankle clonus" EXACT [] xref: UMLS:C0022742 xref: UMLS:C0022745 xref: UMLS:C0030647 xref: UMLS:C0238651 xref: UMLS:C1283838 xref: UMLS:C1963703 is_a: HP:0002169 ! Clonus is_a: HP:0002815 ! Abnormality of the knees is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0002542 name: Olivopontocerebellar atrophy namespace: medical_genetics synonym: "Olivopontocerebellar degeneration" EXACT [] xref: UMLS:C0028968 is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0002543 name: Mental retardation, nonspecific namespace: medical_genetics xref: UMLS:C0025362 xref: UMLS:C0750540 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002544 name: Retrocollis namespace: medical_genetics def: "A form of `torticollis` (HP:0000473) in which the head is drawn back." [HPO:probinson, pmid:17917462] comment: Retrocollis is a spasmodic form of torticollis in which the head is drawn back. xref: UMLS:C0040485 is_a: HP:0000473 ! Spasmodic torticollis [Term] id: HP:0002545 name: Patchy demyelination of subcortical white matter namespace: medical_genetics xref: UMLS:C0011304 xref: UMLS:C0205413 xref: UMLS:C0682708 xref: UMLS:C0815275 is_a: HP:0003381 ! Demyelination [Term] id: HP:0002546 name: Incomprehensible speech namespace: medical_genetics xref: UMLS:C1838027 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002548 name: Favorable response to levodopa namespace: medical_genetics xref: UMLS:C0023570 xref: UMLS:C0309049 xref: UMLS:C0871261 xref: UMLS:C1704632 xref: UMLS:C1706817 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002549 name: Deficit in phonologic short-term memory namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0025265 xref: UMLS:C0162429 xref: UMLS:C0597725 is_a: HP:0002354 ! Memory impairment [Term] id: HP:0002550 name: Absent facial hair namespace: medical_genetics xref: UMLS:C1848192 is_a: HP:0002298 ! Absent hair [Term] id: HP:0002551 name: Severe hypotrichosis namespace: medical_genetics def: "Severely reduced or lacking hair growth." [HPO:curators] synonym: "Marked hypotrichosis" EXACT [] xref: UMLS:C0020678 xref: UMLS:C0522501 xref: UMLS:C1706089 xref: UMLS:C1856545 is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0002552 name: Trichodysplasia namespace: medical_genetics def: "`Developmental dysplasia` (MPATH:64) of the `hair` (FMA:53667)." [HPO:probinson] is_a: HP:0001595 ! Abnormality of the hair [Term] id: HP:0002553 name: Arched eyebrows namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0741204 xref: UMLS:C1538146 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0002554 name: Thin eyebrows namespace: medical_genetics xref: UMLS:C0578682 is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0002555 name: Absent pubic hair namespace: medical_genetics xref: UMLS:C1859391 is_a: HP:0002298 ! Absent hair is_a: HP:0100133 ! Abnormality of the pubic hair [Term] id: HP:0002556 name: Thin scalp hair namespace: medical_genetics xref: UMLS:C1863207 is_a: HP:0002237 ! Thin hair is_a: HP:0100037 ! Abnormality of the scalp hair [Term] id: HP:0002557 name: Hypoplastic nipples namespace: medical_genetics alt_id: HP:0002560 alt_id: HP:0003188 synonym: "Nipple hypoplasia" EXACT [] synonym: "Small nipples" EXACT [] xref: UMLS:C0432355 xref: UMLS:C0432356 xref: UMLS:C1853630 is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples [Term] id: HP:0002558 name: Supernumerary nipples namespace: medical_genetics alt_id: HP:0002559 synonym: "Accessory nipple" EXACT [] synonym: "Accessory nipples" EXACT [] synonym: "Supernumerary nipple" EXACT [] xref: UMLS:C0266011 is_a: HP:0004404 ! Abnormality of the nipple [Term] id: HP:0002561 name: Absent nipples namespace: medical_genetics xref: UMLS:C0425795 is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples [Term] id: HP:0002562 name: Low-set nipples namespace: medical_genetics xref: UMLS:C1836933 is_a: HP:0004404 ! Abnormality of the nipple [Term] id: HP:0002563 name: Constrictive pericarditis namespace: medical_genetics xref: UMLS:C0031048 is_a: HP:0001701 ! Pericarditis [Term] id: HP:0002564 name: Cardiac malformation namespace: medical_genetics alt_id: HP:0001632 comment: This category is meant to comprise congenital (developmental) structural heart defects. synonym: "Congenital heart defect" EXACT [] synonym: "Congenital heart defects" EXACT [] synonym: "Congenital heart disease" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0018787 xref: UMLS:C0018798 xref: UMLS:C0152021 xref: UMLS:C0455683 xref: UMLS:C1522601 is_a: HP:0001627 ! Abnormality of the heart [Term] id: HP:0002565 name: Complex cardiac malformations namespace: medical_genetics synonym: "Cardiovascular malformations" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0007226 xref: UMLS:C0018787 xref: UMLS:C0243070 xref: UMLS:C0439855 xref: UMLS:C1522601 is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0002566 name: Intestinal malrotation namespace: medical_genetics 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:curators] synonym: "Malrotation" EXACT [] xref: UMLS:C0221210 xref: UMLS:C1857947 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002567 name: Perirectal abscesses due to immunodeficiency namespace: medical_genetics xref: UMLS:C0021051 xref: UMLS:C0267566 is_a: HP:0002034 ! Abnormality of the rectum is_a: HP:0002722 ! Abscess formation in any organ [Term] id: HP:0002568 name: Poor feeding due to muscle weakness namespace: medical_genetics xref: UMLS:C0151786 xref: UMLS:C0576456 is_a: HP:0001324 ! Muscle weakness is_a: HP:0002022 ! Feeding difficulties [Term] id: HP:0002570 name: Steatorrhea namespace: medical_genetics xref: UMLS:C0038238 is_a: HP:0002630 ! Fat malabsorption [Term] id: HP:0002571 name: Achalasia namespace: medical_genetics xref: UMLS:C0014848 xref: UMLS:C1321756 is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0002572 name: Episodic vomiting namespace: medical_genetics def: "Paroxysmal, recurrent episodes of vomiting." [HPO:curators] xref: UMLS:C1838993 is_a: HP:0002013 ! Vomiting [Term] id: HP:0002573 name: Hematochezia namespace: medical_genetics comment: Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. xref: UMLS:C0018932 is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002574 name: Episodic abdominal pain namespace: medical_genetics def: "An `intermittent` (PATO:0000690) form of `abdominal pain` (HP:0002027)." [HPO:probinson] xref: UMLS:C0000737 xref: UMLS:C1455761 is_a: HP:0002027 ! Abdominal pain [Term] id: HP:0002575 name: Tracheoesophageal fistula namespace: medical_genetics def: "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:curators] xref: UMLS:C0040588 is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0002576 name: Intussusception namespace: medical_genetics def: "An abnormality of the `intestine` (FMA:7199) 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. xref: UMLS:C0021933 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002577 name: Abnormality of the stomach namespace: medical_genetics def: "An abnormality of the `stomach` (FMA:7148)." [HPO:probinson] comment: The stomach the hollow, muscular organ of the gastrointestinal tract between the esophagus and the small intestine. xref: UMLS:C0000768 xref: UMLS:C0038351 xref: UMLS:C1278920 xref: UMLS:C1704258 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0002578 name: Gastroparesis namespace: medical_genetics def: "`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." [HPO:probinson] xref: UMLS:C0152020 is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0002579 name: Gastrointestinal dysmotility namespace: medical_genetics xref: UMLS:C1836923 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0002580 name: Volvulus namespace: medical_genetics 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 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002581 name: Pancreatic insufficiency namespace: medical_genetics alt_id: HP:0004508 xref: UMLS:C0030293 xref: UMLS:C0267963 is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0002582 name: Chronic atrophic gastritis namespace: medical_genetics def: "A form of `chronic gastritis` (HP:0005231) associated with `atrophic` (PATO:0001623) `gastric mucous membrane` (FMA:14907)." [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 is_a: HP:0005231 ! Chronic gastritis [Term] id: HP:0002583 name: Colitis namespace: medical_genetics 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] synonym: "Severe colitis" EXACT [] xref: UMLS:C1859543 is_a: HP:0002037 ! Inflammatory bowel disease is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0002584 name: Intestinal bleeding namespace: medical_genetics xref: UMLS:C0267373 is_a: HP:0002239 ! Gastrointestinal hemorrhage is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002585 name: Abnormality of the peritoneum namespace: medical_genetics def: "An abnormality of the `peritoneum` (FMA:9584)." [HPO:probinson] comment: The peritoneum is the thin tissue that lines the inner wall of the abdomen and covers most of the abdominal organs. xref: UMLS:C0000768 xref: UMLS:C0031153 xref: UMLS:C1704258 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002586 name: Peritonitis namespace: medical_genetics alt_id: HP:0100591 def: "`Inflammation` (MPATH:212) of the `peritoneum` (FMA:9584)." [HPO:probinson] synonym: "Inflammation of the peritoneum" EXACT [] xref: UMLS:C0031154 is_a: HP:0002585 ! Abnormality of the peritoneum [Term] id: HP:0002587 name: Projectile vomiting namespace: medical_genetics xref: UMLS:C0221151 is_a: HP:0002013 ! Vomiting [Term] id: HP:0002588 name: Duodenal ulcer namespace: medical_genetics def: "An erosion of the mucous membrane of in a portion of the duodenum." [HPO:curators] xref: UMLS:C0013295 is_a: HP:0002246 ! Abnormality of the duodenum [Term] id: HP:0002589 name: Gastrointestinal atresia namespace: medical_genetics xref: UMLS:C0243066 xref: UMLS:C0521362 xref: UMLS:C1559265 xref: UMLS:C2119047 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0002590 name: Paralytic ileus namespace: medical_genetics xref: UMLS:C0030446 is_a: HP:0002595 ! Ileus [Term] id: HP:0002591 name: Polyphagia namespace: medical_genetics alt_id: HP:0002042 synonym: "Voracious appetite" EXACT [] xref: UMLS:C0020505 xref: UMLS:C0232461 xref: UMLS:C0426584 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0002592 name: Gastric ulcer namespace: medical_genetics def: "An `ulcer` (MPATH:579), that is, an erosion of an area of the `gastric mucous membrane` (FMA:14907)." [HPO:probinson] comment: The presence of a mucosal erosion equal to or greater than 0.5 cm. synonym: "Stomach ulcer" EXACT [] xref: UMLS:C0038358 xref: UMLS:C1963119 is_a: HP:0004295 ! Abnormality of the gastric mucosa [Term] id: HP:0002593 name: Intestinal lymphangiectasia namespace: medical_genetics xref: UMLS:C0024215 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002594 name: Pancreatic hypoplasia namespace: medical_genetics alt_id: HP:0005221 def: "`Hypoplasia` (MPATH:133) of the `pancreas` (FMA:7198)." [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:C0030274 xref: UMLS:C0543481 xref: UMLS:C0771711 xref: UMLS:C1278931 xref: UMLS:C1850099 is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0002595 name: Ileus namespace: medical_genetics def: "Acute obstruction of the intestines preventing passage of the contents of the intestines." [HPO:sdoelken] xref: UMLS:C1258215 is_a: HP:0002242 ! Abnormality of the intestine is_a: HP:0005214 ! Intestinal obstruction [Term] id: HP:0002596 name: Decreased myenteric and submucosal ganglia in the bowel namespace: medical_genetics xref: UMLS:C0017067 xref: UMLS:C0021853 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0731521 xref: UMLS:C1258666 xref: UMLS:C1515025 is_a: HP:0004362 ! Abnormality of the enteric ganglia [Term] id: HP:0002597 name: Abnormality of the vasculature namespace: medical_genetics synonym: "Vascular abnormalities" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0005839 xref: UMLS:C0241657 xref: UMLS:C1704258 is_a: HP:0001626 ! Abnormality of the cardiovascular system [Term] id: HP:0002598 name: Muscle weakness, distal (lower limbs more affected than upper limbs), due to motor neuronopathy namespace: medical_genetics synonym: "Muscle weakness, distal limbs, due to neuronopathy" EXACT [] xref: UMLS:C0015385 xref: UMLS:C0023216 xref: UMLS:C0151786 xref: UMLS:C0205108 xref: UMLS:C0392760 xref: UMLS:C1140618 xref: UMLS:C1314939 xref: UMLS:C1513492 xref: UMLS:C1705994 is_a: HP:0001324 ! Muscle weakness is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0002599 name: Head titubation namespace: medical_genetics xref: UMLS:C1608410 is_a: HP:0002457 ! Abnormal head movements [Term] id: HP:0002600 name: Hyporeflexia of lower limbs namespace: medical_genetics synonym: "Hyporeflexia in lower limbs" EXACT [] synonym: "Hyporeflexia of the lower limbs" EXACT [] synonym: "Hyporeflexia, lower limbs" EXACT [] xref: UMLS:C0023216 xref: UMLS:C0151888 is_a: HP:0001265 ! Hyporeflexia [Term] id: HP:0002601 name: Paresis of extensor muscles of the big toe is presenting symptom namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0030552 xref: UMLS:C0449450 xref: UMLS:C0682594 xref: UMLS:C1457887 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0002602 name: Secondary generalized tonic-clonic seizures namespace: medical_genetics synonym: "Secondary generalized tonic clonic seizures" EXACT [] xref: UMLS:C1861747 is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0002603 name: Decreased spontaneous movements namespace: medical_genetics synonym: "Decreased spontaneous movement" EXACT [] xref: UMLS:C1839631 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002604 name: Gastrointestinal telangiectasia namespace: medical_genetics def: "`Telangiectasia` (MPATH:476) affecting the`gastrointestinal tract` (FMA:71132)." [HPO:probinson] comment: Telangiectasia affecting stomach, duodenum, small bowel, and/or colon. xref: UMLS:C0009368 xref: UMLS:C0013303 xref: UMLS:C0021852 xref: UMLS:C0038351 xref: UMLS:C0039446 xref: UMLS:C1278920 xref: UMLS:C1278921 xref: UMLS:C1281569 is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0002605 name: Hepatic necrosis namespace: medical_genetics def: "The presence of `necrosis` (MPATH:4) affecting the `liver` (FMA:7197)." [HPO:probinson] xref: UMLS:C0151798 xref: UMLS:C1963135 is_a: HP:0001392 ! Abnormality of the liver created_by: peter creation_date: 2008-02-20T11:32:00Z [Term] id: HP:0002606 name: Barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel namespace: medical_genetics xref: UMLS:C0021853 xref: UMLS:C0203075 xref: UMLS:C0205107 xref: UMLS:C0441635 xref: UMLS:C0700124 xref: UMLS:C1140999 xref: UMLS:C1547282 xref: UMLS:C1705165 xref: UMLS:C1710706 is_a: HP:0004362 ! Abnormality of the enteric ganglia [Term] id: HP:0002607 name: Bowel incontinence namespace: medical_genetics 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: UMLS:C0015732 is_a: HP:0007147 ! Urinary or fecal incontinence [Term] id: HP:0002608 name: Celiac disease namespace: medical_genetics xref: UMLS:C0007570 is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0100326 ! Immunologic hypersensitivity [Term] id: HP:0002609 name: Rectal bleeding namespace: medical_genetics xref: UMLS:C0267596 is_a: HP:0002034 ! Abnormality of the rectum [Term] id: HP:0002610 name: Distal intestinal obstruction syndrome namespace: medical_genetics xref: UMLS:C0398349 is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0002611 name: Cholestatic liver disease namespace: medical_genetics xref: UMLS:C0860204 is_a: HP:0001396 ! Cholestasis [Term] id: HP:0002612 name: Congenital hepatic fibrosis namespace: medical_genetics def: "The presence of `fibrosis` (MPATH:181) of that part of the `liver` (FMA:7197) with `congenital onset` (HP:0003577)." [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 is_a: HP:0001395 ! Hepatic fibrosis [Term] id: HP:0002613 name: Biliary cirrhosis namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Primary biliary cirrhosis" RELATED [] xref: UMLS:C0023892 is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0002614 name: Hepatic periportal necrosis namespace: medical_genetics def: "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)." [HPO:probinson] xref: UMLS:C0151798 xref: UMLS:C1963135 is_a: HP:0002605 ! Hepatic necrosis [Term] id: HP:0002615 name: Hypotension namespace: medical_genetics alt_id: HP:0005127 alt_id: HP:0006701 synonym: "Arterial hypotension" EXACT [] synonym: "Low blood pressure" EXACT [] xref: UMLS:C0020649 is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0002616 name: Aortic root dilatation namespace: medical_genetics alt_id: HP:0004750 alt_id: HP:0005125 synonym: "increased aortic root diameter" EXACT [] xref: UMLS:C0205217 xref: UMLS:C0238669 xref: UMLS:C0442805 xref: UMLS:C2199655 is_a: HP:0005111 ! Dilatation of the ascending aorta [Term] id: HP:0002617 name: Aneurysm namespace: medical_genetics synonym: "Aneurysmal disease" RELATED [] xref: UMLS:C0002940 xref: UMLS:C0012634 xref: UMLS:C0439651 is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002619 name: Varicose veins namespace: medical_genetics xref: UMLS:C0042345 is_a: HP:0002624 ! Venous abnormalities [Term] id: HP:0002620 name: Systemic artery abnormality namespace: medical_genetics def: "An abnormality of a `systemic artery` (FMA:66464)." [HPO:probinson] synonym: "Arterial abnormalities" RELATED [] xref: UMLS:C0151489 is_a: HP:0011004 ! Abnormality of the systemic arterial tree [Term] id: HP:0002621 name: Atherosclerosis namespace: medical_genetics 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:curators] xref: UMLS:C0004153 is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002622 name: Dissecting aortic aneurysm namespace: medical_genetics xref: UMLS:C0012736 is_a: HP:0002647 ! Aortic dissection [Term] id: HP:0002623 name: Overriding aorta namespace: medical_genetics 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] xref: UMLS:C0265886 is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0002624 name: Venous abnormalities namespace: medical_genetics xref: UMLS:C0241665 is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002625 name: Deep venous thrombosis namespace: medical_genetics synonym: "Deep vein thrombosis" EXACT [] synonym: "Multiple deep venous thrombosis" EXACT [] xref: UMLS:C0042487 xref: UMLS:C0149871 xref: UMLS:C0340708 xref: UMLS:C0439064 is_a: HP:0004418 ! Thrombophlebitis [Term] id: HP:0002626 name: Venous varicosities of celiac and mesenteric vessels namespace: medical_genetics xref: UMLS:C0005847 xref: UMLS:C0007570 xref: UMLS:C0025474 xref: UMLS:C0042345 is_a: HP:0002619 ! Varicose veins [Term] id: HP:0002627 name: Right aortic arch namespace: medical_genetics xref: UMLS:C0035615 is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0002628 name: Enteropathy namespace: medical_genetics xref: UMLS:C0021831 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002629 name: Gastrointestinal arteriovenous malformation namespace: medical_genetics xref: UMLS:C0744321 is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature is_a: HP:0100026 ! Arteriovenous malformations [Term] id: HP:0002630 name: Fat malabsorption namespace: medical_genetics xref: UMLS:C0554103 is_a: HP:0002024 ! Malabsorption is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002631 name: Ascending aortic aneurysm namespace: medical_genetics xref: UMLS:C0003486 xref: UMLS:C0205385 xref: UMLS:C0340629 xref: UMLS:C1962987 xref: UMLS:C2072946 is_a: HP:0004942 ! Aortic aneurysms is_a: HP:0005111 ! Dilatation of the ascending aorta [Term] id: HP:0002632 name: Low-to-normal blood pressure namespace: medical_genetics xref: UMLS:C1866500 is_a: HP:0002615 ! Hypotension [Term] id: HP:0002633 name: Vasculitis namespace: medical_genetics xref: UMLS:C0042384 xref: UMLS:C1963274 is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002634 name: Arteriosclerosis namespace: medical_genetics xref: UMLS:C0003850 is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0002635 name: Atheromatosis namespace: medical_genetics xref: UMLS:C0004153 is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0002636 name: Arterial aneurysm of celiac and mesenteric vessels namespace: medical_genetics xref: UMLS:C0005847 xref: UMLS:C0007570 xref: UMLS:C0025474 xref: UMLS:C0340613 is_a: HP:0002617 ! Aneurysm is_a: HP:0002620 ! Systemic artery abnormality [Term] id: HP:0002637 name: Cerebral ischemia namespace: medical_genetics xref: UMLS:C0007785 xref: UMLS:C0007786 xref: UMLS:C0917798 is_a: HP:0009145 ! Abnormalities of the cerebral arteries is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0002638 name: Superficial thrombophlebitis namespace: medical_genetics xref: UMLS:C1510431 is_a: HP:0004418 ! Thrombophlebitis [Term] id: HP:0002639 name: Budd-Chiari syndrome namespace: medical_genetics xref: UMLS:C0856761 is_a: HP:0002624 ! Venous abnormalities [Term] id: HP:0002640 name: Hypertension associated with pheochromocytoma namespace: medical_genetics def: "A type of `hypertension` (HP:0000822) associated with `pheochromocytoma` (HP:0002666)." [HPO:probinson] xref: UMLS:C0020538 xref: UMLS:C0031511 xref: UMLS:C1706920 xref: UMLS:C1963138 is_a: HP:0000822 ! Hypertension [Term] id: HP:0002641 name: Peripheral thrombosis namespace: medical_genetics xref: UMLS:C1849749 is_a: HP:0001977 ! Thrombosis [Term] id: HP:0002642 name: Arteriovenous fistulas of celiac and mesenteric vessels namespace: medical_genetics xref: UMLS:C0003855 xref: UMLS:C0005847 xref: UMLS:C0007570 xref: UMLS:C0025474 is_a: HP:0002624 ! Venous abnormalities is_a: HP:0004947 ! Arteriovenous fistulas [Term] id: HP:0002643 name: Neonatal respiratory distress namespace: medical_genetics synonym: "Infantile respiratory distress" EXACT [] synonym: "Newborn respiratory distress" EXACT [] synonym: "Respiratory distress, neonatal" EXACT [] xref: UMLS:C0021289 xref: UMLS:C0476273 xref: UMLS:C0521346 xref: UMLS:C0549631 xref: UMLS:C0852283 xref: UMLS:C1546767 xref: UMLS:C1552240 xref: UMLS:C1552264 xref: UMLS:C1856947 xref: UMLS:C2239178 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002644 name: Abnormality of the pelvis namespace: medical_genetics def: "An abnormality of the bony pelvis (pelvic girdle); which is a ring of bones connecting the vertebral column to the femurs." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0030797 xref: UMLS:C1279864 xref: UMLS:C1704258 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002645 name: Wormian bones namespace: medical_genetics 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. synonym: "Extra sutural bones" EXACT [] xref: UMLS:C0222716 is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0002647 name: Aortic dissection namespace: medical_genetics 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 xref: UMLS:C2046121 is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0002648 name: Abnormality of skull shape namespace: medical_genetics def: "An abnormality of the shape of the skull." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0037303 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1704258 is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002650 name: Scoliosis namespace: medical_genetics 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:curators] synonym: "Mild scoliosis" EXACT [] synonym: "Progressive scoliosis" EXACT [] synonym: "Scoliosis may be present" EXACT [] synonym: "Severe scoliosis" EXACT [] xref: UMLS:C0036439 xref: UMLS:C0150312 xref: UMLS:C0205082 xref: UMLS:C0449450 xref: UMLS:C0559260 xref: UMLS:C0700208 xref: UMLS:C1519275 xref: UMLS:C1839253 xref: UMLS:C1855221 is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0002651 name: Spondyloepimetaphyseal dysplasia namespace: medical_genetics xref: UMLS:C1863733 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002652 name: Skeletal dysplasia namespace: medical_genetics 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. xref: UMLS:C0410528 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002653 name: Bone pain namespace: medical_genetics xref: UMLS:C0151825 xref: UMLS:C1963077 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002654 name: Multiple epiphyseal dysplasia namespace: medical_genetics xref: UMLS:C0026760 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002655 name: Spondyloepiphyseal dysplasia namespace: medical_genetics xref: UMLS:C0038015 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002656 name: Epiphyseal dysplasia namespace: medical_genetics xref: UMLS:C0392476 is_a: HP:0002652 ! Skeletal dysplasia is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0002657 name: Spondylometaphyseal dysplasia namespace: medical_genetics xref: UMLS:C0700635 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002659 name: Increased susceptibility to fractures namespace: medical_genetics 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 [] synonym: "Moderate to severe bone fragility" EXACT [] xref: UMLS:C0012655 xref: UMLS:C0016658 xref: UMLS:C0205081 xref: UMLS:C0205082 xref: UMLS:C0205161 xref: UMLS:C0205217 xref: UMLS:C0220898 xref: UMLS:C0442805 xref: UMLS:C1264642 xref: UMLS:C1390474 xref: UMLS:C1519275 xref: UMLS:C1547045 xref: UMLS:C1861523 xref: UMLS:C1880851 xref: UMLS:C1881878 xref: UMLS:C1998911 xref: UMLS:C2347472 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002661 name: Painless fractures due to injury namespace: medical_genetics def: "An increased tendency to fractures following trauma, with fractures occurring without pain." [HPO:curators] xref: UMLS:C0016658 xref: UMLS:C0175677 xref: UMLS:C0234226 xref: UMLS:C1880851 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002663 name: Late ossifying epiphyses namespace: medical_genetics synonym: "Delayed epiphyseal maturation" EXACT [] synonym: "Delayed epiphyseal ossification" EXACT [] synonym: "Delayed opacification of the epiphyses" EXACT [] synonym: "Detailed epiphyseal ossification" EXACT [] synonym: "Epiphyseal ossification delay" EXACT [] synonym: "Generalized epiphyseal ossification delay" EXACT [] xref: UMLS:C0014570 xref: UMLS:C0029433 xref: UMLS:C0205246 xref: UMLS:C0205421 xref: UMLS:C0449584 xref: UMLS:C0870861 xref: UMLS:C1254042 xref: UMLS:C1522508 xref: UMLS:C1833001 xref: UMLS:C1865200 xref: UMLS:C1882150 is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0002664 name: Neoplasia namespace: medical_genetics 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 tumour or neoplasm." [HPO:curators] synonym: "Oncological abnormality" EXACT [] synonym: "Oncology" EXACT [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0027651 xref: UMLS:C0278627 xref: UMLS:C1704258 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002665 name: Lymphoma namespace: medical_genetics def: "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:curators] xref: UMLS:C0024299 is_a: HP:0004377 ! Hematological neoplasia [Term] id: HP:0002666 name: Pheochromocytoma namespace: medical_genetics 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:curators] xref: UMLS:C0031511 xref: UMLS:C1706920 is_a: HP:0100634 ! Neuroendocrine neoplasia [Term] id: HP:0002667 name: Nephroblastoma (Wilms tumor) namespace: medical_genetics alt_id: HP:0000115 def: "The presence of a `nephroblastoma` (MPATH:261), which is a neoplasm of the `kidney` (FMA:7203) 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: UMLS:C0027708 is_a: HP:0009726 ! Renal neoplasm [Term] id: HP:0002668 name: Paragangliomas namespace: medical_genetics 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:curators] synonym: "Carotid body tumors" EXACT [] synonym: "Chemodectoma" EXACT [] synonym: "Chemodectomas" EXACT [] xref: UMLS:C0007279 xref: UMLS:C0030421 xref: UMLS:C0030422 is_a: HP:0100634 ! Neuroendocrine neoplasia [Term] id: HP:0002669 name: Osteosarcoma namespace: medical_genetics 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: UMLS:C0029463 is_a: HP:0010622 ! Neoplasia of the skeletal system is_a: HP:0100242 ! Sarcoma [Term] id: HP:0002671 name: Basal cell carcinoma namespace: medical_genetics def: "The presence of a `basal cell carcinoma` (MPATH:234) of the `skin` (FMA:7163)." [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 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0002672 name: Gastrointestinal carcinoma namespace: medical_genetics xref: UMLS:C0151544 is_a: HP:0007378 ! Gastrointestinal tract neoplasia [Term] id: HP:0002673 name: Coxa valga namespace: medical_genetics 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:curators] xref: UMLS:C0152430 xref: UMLS:C0239137 is_a: HP:0003272 ! Abnormality of the hip [Term] id: HP:0002676 name: Cloverleaf skull namespace: medical_genetics 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. synonym: "Kleeblattschaedel" EXACT [] xref: UMLS:C1860050 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0002677 name: Small foramen magnum namespace: medical_genetics def: "An abnormal decrease in the size of the foramen magnum." [HPO:curators] xref: UMLS:C1861217 is_a: HP:0002699 ! Abnormality of the foramen magnum [Term] id: HP:0002678 name: Skull asymmetry namespace: medical_genetics xref: UMLS:C0424690 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0002679 name: Abnormality of the sella turcica namespace: medical_genetics def: "Abnormality of the `sella turcica` (FMA:54709), a saddle-shaped depression in the sphenoid bone at the base of the human skull." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0036609 xref: UMLS:C1280694 xref: UMLS:C1704258 is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002680 name: J-shaped sella turcica namespace: medical_genetics 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:curators] synonym: "J-shaped sella" EXACT [] xref: UMLS:C0036609 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1280694 is_a: HP:0002679 ! Abnormality of the sella turcica [Term] id: HP:0002681 name: Deformed sella turcica namespace: medical_genetics xref: UMLS:C1846437 is_a: HP:0002679 ! Abnormality of the sella turcica [Term] id: HP:0002682 name: Broad skull namespace: medical_genetics xref: UMLS:C0424693 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0002683 name: Abnormality of the calvarium namespace: medical_genetics def: "Abnormality of the calvarium, which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0205950 xref: UMLS:C1704258 is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002684 name: Thickened calvaria namespace: medical_genetics 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:C0205400 xref: UMLS:C0205950 xref: UMLS:C1843325 xref: UMLS:C1843334 xref: UMLS:C1844815 xref: UMLS:C1849519 xref: UMLS:C1854937 xref: UMLS:C1857647 xref: UMLS:C1858452 xref: UMLS:C1876224 is_a: HP:0002683 ! Abnormality of the calvarium [Term] id: HP:0002685 name: Craniosynostosis (coronal, sagittal, lambdoid sutures) namespace: medical_genetics xref: UMLS:C0010278 xref: UMLS:C0205123 xref: UMLS:C0205129 xref: UMLS:C0224528 xref: UMLS:C1442871 is_a: HP:0004440 ! Coronal craniosynostosis is_a: HP:0004442 ! Sagittal craniosynostosis is_a: HP:0004443 ! Lambdoidal craniosynostosis [Term] id: HP:0002686 name: Prenatal maternal abnormality namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0722765 xref: UMLS:C1704258 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0002687 name: Abnormality of the frontal sinuses namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0016734 xref: UMLS:C1704258 is_a: HP:0000245 ! Abnormality of the sinuses [Term] id: HP:0002688 name: Absent frontal sinuses namespace: medical_genetics synonym: "Absence of frontal sinuses" EXACT [] synonym: "Absent frontal sinus" EXACT [] xref: UMLS:C0016734 xref: UMLS:C1689985 xref: UMLS:C1849544 xref: UMLS:C1873506 xref: UMLS:C2107118 is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses [Term] id: HP:0002689 name: Absent paranasal sinuses namespace: medical_genetics xref: UMLS:C1857131 is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses [Term] id: HP:0002690 name: Large sella turcica namespace: medical_genetics def: "An abnormal enlargement of the sella turcica." [HPO:curators] synonym: "Enlarged sella turcica" EXACT [] synonym: "Large, prominent sella turcica" EXACT [] xref: UMLS:C0205402 xref: UMLS:C1843677 xref: UMLS:C1855890 is_a: HP:0002679 ! Abnormality of the sella turcica [Term] id: HP:0002691 name: Platybasia namespace: medical_genetics xref: UMLS:C0032209 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0002692 name: Hypoplastic facial bones namespace: medical_genetics xref: UMLS:C1846438 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0002693 name: Abnormality of the skull base namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0149543 xref: UMLS:C1704258 is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002694 name: Sclerotic skull base namespace: medical_genetics synonym: "Sclerosis of skull base" EXACT [] synonym: "Sclerosis of the skull base" EXACT [] xref: UMLS:C0036429 xref: UMLS:C0149543 xref: UMLS:C1844703 is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0002695 name: Symmetrical, oval parietal bone defects namespace: medical_genetics synonym: "Symmetrical, oval defects in the parietal bone" EXACT [] xref: UMLS:C0030558 xref: UMLS:C0243067 xref: UMLS:C0332516 xref: UMLS:C1279053 xref: UMLS:C1709367 is_a: HP:0002696 ! Abnormality of the parietal bone [Term] id: HP:0002696 name: Abnormality of the parietal bone namespace: medical_genetics def: "Any abnormality of the `parietal bone` (FMA:9613) of the skull." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0030558 xref: UMLS:C1279053 xref: UMLS:C1704258 is_a: HP:0002683 ! Abnormality of the calvarium [Term] id: HP:0002697 name: Parietal foramina namespace: medical_genetics 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 xref: UMLS:C1868598 is_a: HP:0002696 ! Abnormality of the parietal bone [Term] id: HP:0002699 name: Abnormality of the foramen magnum namespace: medical_genetics def: "Any abnormality of the foramen magnum (the aperture through which the medulla oblongata enters and exits the skull)." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0016519 xref: UMLS:C1269901 xref: UMLS:C1704258 is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002700 name: Large foramen magnum namespace: medical_genetics def: "An abnormal increase in the size of the foramen magnum." [HPO:curators] synonym: "Wide foramen magnum" EXACT [] xref: UMLS:C1844508 xref: UMLS:C1867128 is_a: HP:0002699 ! Abnormality of the foramen magnum [Term] id: HP:0002701 name: Soft calvaria namespace: medical_genetics def: "Abnormal softness of the roof of the skull owing to a severe defect in bone mineralization." [HPO:curators] xref: UMLS:C1833762 is_a: HP:0005474 ! Poorly ossified calvaria [Term] id: HP:0002703 name: Abnormality of skull ossification namespace: medical_genetics def: "An abnormality of the process of ossification of the skull. The bones of the skull derive directly from mesenchyme cells by intramembranous ossification." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0029433 xref: UMLS:C0037303 xref: UMLS:C1704258 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 namespace: medical_genetics def: "The presence of a high and narrow palate." [HPO:curators] xref: UMLS:C0205250 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1299351 xref: UMLS:C1398297 xref: UMLS:C1398312 is_a: HP:0000218 ! High palate [Term] id: HP:0002706 name: Small shallow orbits namespace: medical_genetics xref: UMLS:C1859765 is_a: HP:0000586 ! Shallow orbits [Term] id: HP:0002707 name: Palate telangiectasia namespace: medical_genetics 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 xref: UMLS:C0700374 xref: UMLS:C1278914 xref: UMLS:C1857699 is_a: HP:0000174 ! Abnormality of palate is_a: HP:0000228 ! Teleangiectases in oral cavity [Term] id: HP:0002708 name: Prominent median palatal raphe namespace: medical_genetics 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 is_a: HP:0000174 ! Abnormality of palate [Term] id: HP:0002710 name: Commissural lip pit namespace: medical_genetics 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. xref: UMLS:C0399605 is_a: HP:0100267 ! Lip pits [Term] id: HP:0002711 name: Exaggerated median tongue furrow namespace: medical_genetics def: "Increased depth of the median tongue furrow." [HPO:curators] xref: UMLS:C1845109 is_a: HP:0000221 ! Furrowed tongue [Term] id: HP:0002712 name: Protruding lower lip namespace: medical_genetics xref: UMLS:C1866234 is_a: HP:0000179 ! Thick lower lip vermilion [Term] id: HP:0002713 name: Accidental injury and ulceration of the lips and tongue due to decreased sensation namespace: medical_genetics xref: UMLS:C0020580 xref: UMLS:C0023759 xref: UMLS:C0040408 xref: UMLS:C0041582 xref: UMLS:C0151736 xref: UMLS:C1278913 xref: UMLS:C1963256 xref: UMLS:C2137027 is_a: HP:0000153 ! Abnormality of the mouth is_a: HP:0001333 ! Abnormality of the sensory nervous system [Term] id: HP:0002714 name: Downturned corners of mouth namespace: medical_genetics alt_id: HP:0000192 def: "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." [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). synonym: "Downturned corners of the mouth" EXACT [] synonym: "Downturned mouth" EXACT [] xref: UMLS:C0226896 xref: UMLS:C0230028 xref: UMLS:C1267547 xref: UMLS:C1278910 xref: UMLS:C1854116 xref: UMLS:C1879655 xref: UMLS:C1879656 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0002715 name: Abnormality of the immune system namespace: medical_genetics alt_id: HP:0003257 alt_id: HP:0003346 def: "An abnormality of the `immune system` (FMA:9825)." [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 [] xref: UMLS:C0000768 xref: UMLS:C0205470 xref: UMLS:C0438215 xref: UMLS:C1704258 xref: UMLS:C1853129 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002716 name: Lymphadenopathy namespace: medical_genetics alt_id: HP:0002735 def: "Enlargment (swelling) of a `lymph node` (FMA:5034)." [HPO:probinson] synonym: "Lymph node hyperplasia" EXACT [] xref: UMLS:C0024228 xref: UMLS:C0497156 is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002717 name: Abnormality of cortisol production namespace: medical_genetics comment: Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. xref: UMLS:C0000768 xref: UMLS:C0020268 xref: UMLS:C0033268 xref: UMLS:C1704258 is_a: HP:0000849 ! Adrenocortical abnormality created_by: peter creation_date: 2008-02-25T10:41:00Z [Term] id: HP:0002718 name: Recurrent bacterial infections namespace: medical_genetics synonym: "Bacterial infections, recurrent" EXACT [] synonym: "Frequent bacterial infections" EXACT [] synonym: "Recurrent pyogenic infections" EXACT [] xref: UMLS:C0004623 xref: UMLS:C0034897 xref: UMLS:C1843998 xref: UMLS:C1844383 xref: UMLS:C1970262 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002719 name: Recurrent infections namespace: medical_genetics synonym: "Frequent infections" EXACT [] synonym: "Increased frequency of infection" EXACT [] xref: UMLS:C0021311 xref: UMLS:C0205217 xref: UMLS:C0239998 xref: UMLS:C0376249 xref: UMLS:C0439603 xref: UMLS:C0442805 xref: UMLS:C1561548 xref: UMLS:C1705502 xref: UMLS:C1837338 xref: UMLS:C2364133 is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002720 name: Decreased IgA namespace: medical_genetics alt_id: HP:0005358 alt_id: HP:0005399 alt_id: HP:0005431 alt_id: HP:0008350 synonym: "Decreased immunoglobulin A" EXACT [] synonym: "Gamma-A globulin deficiency" EXACT [] synonym: "IgA deficiency" EXACT [] synonym: "Low levels of immunoglobulin A" EXACT [] synonym: "Reduced IgA levels" EXACT [] xref: UMLS:C0011155 xref: UMLS:C0017649 xref: UMLS:C0020835 xref: UMLS:C0151728 xref: UMLS:C0162429 xref: UMLS:C0162538 xref: UMLS:C0205216 xref: UMLS:C0205251 xref: UMLS:C0392756 xref: UMLS:C0441889 xref: UMLS:C0553533 xref: UMLS:C1299352 xref: UMLS:C1550472 xref: UMLS:C1552644 xref: UMLS:C1623416 xref: UMLS:C1859631 xref: UMLS:C2349976 is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0002721 name: Immunodeficiency namespace: medical_genetics synonym: "Immune deficiency" EXACT [] xref: UMLS:C0021051 xref: UMLS:C0850497 is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002722 name: Abscess formation in any organ namespace: medical_genetics xref: UMLS:C0000833 xref: UMLS:C0178784 xref: UMLS:C0220781 xref: UMLS:C0549483 xref: UMLS:C1522492 xref: UMLS:C1550609 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002723 name: Absence of bactericidal oxidative 'respiratory burst' in phagocytes namespace: medical_genetics xref: UMLS:C0004611 xref: UMLS:C0004635 xref: UMLS:C0031307 xref: UMLS:C0085416 xref: UMLS:C0521346 xref: UMLS:C1510439 xref: UMLS:C1546767 xref: UMLS:C1689985 xref: UMLS:C2107118 xref: UMLS:C2347473 is_a: HP:0010977 ! Abnormality of phagocytes [Term] id: HP:0002724 name: Aspergillus infections namespace: medical_genetics xref: UMLS:C0851807 is_a: HP:0002841 ! Fungal infections, recurrent [Term] id: HP:0002725 name: Systemic lupus erythematosus namespace: medical_genetics xref: UMLS:C0024141 is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0002726 name: Staphylococcus aureus infections namespace: medical_genetics xref: UMLS:C1318973 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0002727 name: Abnormal tendency to infections of the skin namespace: medical_genetics xref: UMLS:C0021311 xref: UMLS:C0205161 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C1998911 xref: UMLS:C2347472 is_a: HP:0000951 ! Abnormality of the skin created_by: peter creation_date: 2008-02-28T07:18:00Z [Term] id: HP:0002728 name: Chronic mucocutaneous candidiasis namespace: medical_genetics synonym: "Mucocutaneous candidiasis" EXACT [] xref: UMLS:C0006845 xref: UMLS:C0006848 is_a: HP:0002841 ! Fungal infections, recurrent [Term] id: HP:0002729 name: Lymph nodes show florid reactive follicular hyperplasia and marked paracortical expansion with immunoblasts and plasma cells namespace: medical_genetics xref: UMLS:C0024204 xref: UMLS:C0032112 xref: UMLS:C0205229 xref: UMLS:C0333979 xref: UMLS:C0439682 xref: UMLS:C0522501 xref: UMLS:C1512654 xref: UMLS:C1547282 xref: UMLS:C1571705 xref: UMLS:C1706089 is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002730 name: Chronic noninfectious lymphadenopathy namespace: medical_genetics def: "A chronic form of `lymphadenopathy` (HP:0002716) that is not related to infection." [HPO:probinson] xref: UMLS:C1858970 is_a: HP:0002716 ! Lymphadenopathy [Term] id: HP:0002731 name: Defective lymphocyte apoptosis namespace: medical_genetics def: "A defect in `apoptosis` (GO:0006915) in `lymphocytes` (CL:0000542)." [HPO:probinson] comment: Apoptosis is a form of programmed cell death. xref: UMLS:C1858969 is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0002732 name: Lymph node hypoplasia namespace: medical_genetics def: "Underdevelopment of the `lymph nodes` (FMA:5034)." [HPO:probinson] synonym: "Small lymph nodes" RELATED [] xref: UMLS:C1865377 is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002733 name: Abnormality of the lymph nodes namespace: medical_genetics alt_id: HP:0008149 def: "A `lymph node` (FMA:5034) abnormality." [HPO:probinson] synonym: "Abnormal lymph node histology" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0019638 xref: UMLS:C0024204 xref: UMLS:C0205161 xref: UMLS:C0205462 xref: UMLS:C0344441 xref: UMLS:C1269047 xref: UMLS:C1704258 xref: UMLS:C2347472 is_a: HP:0010986 ! Abnormality of immune system organ [Term] id: HP:0002737 name: Thick skull base namespace: medical_genetics xref: UMLS:C1839507 is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0002738 name: Hypoplastic frontal sinuses namespace: medical_genetics synonym: "Underdeveloped frontal sinuses" EXACT [] xref: UMLS:C0016734 xref: UMLS:C1850969 is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses [Term] id: HP:0002740 name: E. coli infections namespace: medical_genetics synonym: "E coli infections" EXACT [] xref: UMLS:C0014836 xref: UMLS:C0021311 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0002741 name: Serratia marcescens infections namespace: medical_genetics xref: UMLS:C1096571 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0002742 name: Klebsiella infections namespace: medical_genetics xref: UMLS:C0022729 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0002743 name: Severe enteroviral infections namespace: medical_genetics xref: UMLS:C1843999 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0002744 name: Bilateral cleft lip/palate namespace: medical_genetics def: "Cleft lip/palate affecting both sides of the face." [HPO:curators] synonym: "Bilateral cleft lip and cleft palate" EXACT [] xref: UMLS:C0008925 xref: UMLS:C0392005 xref: UMLS:C0700374 xref: UMLS:C1278914 xref: UMLS:C2240378 is_a: HP:0100332 ! Non-midline cleft lip/palate [Term] id: HP:0002745 name: oral leukoplakia namespace: medical_genetics synonym: "leukokeratosis" EXACT [HPO:SKOEHLER] xref: UMLS:C0023532 is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0002747 name: Respiratory insufficiency due to muscle weakness namespace: medical_genetics 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 [] synonym: "Respiratory muscle weakness, severe" EXACT [] xref: UMLS:C0035229 xref: UMLS:C0151786 xref: UMLS:C0205082 xref: UMLS:C0235063 xref: UMLS:C0476273 xref: UMLS:C1145670 xref: UMLS:C1519275 xref: UMLS:C1836141 is_a: HP:0004347 ! Abnormal weakness of muscles of respiration [Term] id: HP:0002748 name: Rickets namespace: medical_genetics xref: UMLS:C0035579 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0002749 name: Osteomalacia namespace: medical_genetics 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: UMLS:C0029442 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0002750 name: Delayed skeletal maturation namespace: medical_genetics 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:C0034011 xref: UMLS:C0037253 xref: UMLS:C0205421 xref: UMLS:C0424605 xref: UMLS:C0521324 xref: UMLS:C0541764 xref: UMLS:C1160401 xref: UMLS:C1849992 xref: UMLS:C1850086 xref: UMLS:C1867113 is_a: HP:0000927 ! Abnormality of skeletal maturation [Term] id: HP:0002751 name: Kyphoscoliosis namespace: medical_genetics alt_id: HP:0003412 alt_id: HP:0003424 alt_id: HP:0004593 alt_id: HP:0005728 synonym: "Kyphoscoliosis may be present" EXACT [] synonym: "Kyphoscoliosis may occur" EXACT [] synonym: "Progressive kyphoscoliosis" EXACT [] synonym: "severe, progressive kyphoscoliosis" EXACT [] synonym: "Slight kyphoscoliosis" EXACT [] xref: UMLS:C0150312 xref: UMLS:C0205082 xref: UMLS:C0345392 xref: UMLS:C0449450 xref: UMLS:C0547040 xref: UMLS:C0575158 xref: UMLS:C0600033 xref: UMLS:C1519275 xref: UMLS:C1709305 xref: UMLS:C1849028 is_a: HP:0002650 ! Scoliosis is_a: HP:0002808 ! Kyphosis [Term] id: HP:0002752 name: Sparse bone trabeculae namespace: medical_genetics xref: UMLS:C1833324 is_a: HP:0100671 ! Abnormality of bone trabeculation [Term] id: HP:0002753 name: Thin bony cortex namespace: medical_genetics alt_id: HP:0003104 def: "Abnormal thinning of the cortical region of bones." [HPO:curators] synonym: "Thin cortices" EXACT [] xref: UMLS:C1833325 xref: UMLS:C1842228 is_a: HP:0003103 ! Abnormality of cortical bone [Term] id: HP:0002754 name: Osteomyelitis namespace: medical_genetics xref: UMLS:C0029443 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002755 name: Osteomyelitis due to immunodeficiency namespace: medical_genetics xref: UMLS:C0021051 xref: UMLS:C0029443 is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0002756 name: Pathologic fracture namespace: medical_genetics 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: "Spontaneous fracture" EXACT [] xref: UMLS:C0016663 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002757 name: Recurrent fractures namespace: medical_genetics 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:C0016655 xref: UMLS:C0016658 xref: UMLS:C0016663 xref: UMLS:C0034897 xref: UMLS:C0205359 xref: UMLS:C0439064 xref: UMLS:C0441889 xref: UMLS:C0542560 xref: UMLS:C1548673 xref: UMLS:C1561545 xref: UMLS:C1838660 xref: UMLS:C1851408 xref: UMLS:C1880851 xref: UMLS:C2348088 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002758 name: Osteoarthritis namespace: medical_genetics alt_id: HP:0002824 xref: UMLS:C0029408 is_a: HP:0001369 ! Arthritis [Term] id: HP:0002759 name: Arthrogryposis multiplex in severe cases namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0868928 xref: UMLS:C1519275 xref: UMLS:C1533148 xref: UMLS:C1832739 is_a: HP:0002804 ! Arthrogryposis multiplex congenita [Term] id: HP:0002761 name: Generalized joint laxity namespace: medical_genetics 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] xref: UMLS:C1836308 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0002762 name: Multiple exostoses namespace: medical_genetics xref: UMLS:C0015306 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002763 name: Abnormality of cartilage namespace: medical_genetics def: "Any abnormality of cartilage." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0007301 xref: UMLS:C1704258 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002764 name: Stippled chondral calcification namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C0442012 xref: UMLS:C1533591 xref: UMLS:C1879982 xref: UMLS:C1979978 is_a: HP:0002832 ! Calcific stippling is_a: HP:0100593 ! Calcification of cartilage [Term] id: HP:0002766 name: Relatively short spine namespace: medical_genetics xref: UMLS:C0037949 xref: UMLS:C0080103 xref: UMLS:C0205345 xref: UMLS:C1267072 xref: UMLS:C1280065 xref: UMLS:C1547039 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0002771 name: Joint laxity, mild namespace: medical_genetics synonym: "Increased joint laxity, mild" EXACT [] xref: UMLS:C0022417 xref: UMLS:C0086437 xref: UMLS:C0205217 xref: UMLS:C0332537 xref: UMLS:C0392905 xref: UMLS:C0442805 xref: UMLS:C0547040 xref: UMLS:C1269611 xref: UMLS:C1706309 is_a: HP:0001388 ! Joint laxity [Term] id: HP:0002773 name: Small vertebral bodies namespace: medical_genetics synonym: "Small vertebrae" EXACT [] xref: UMLS:C1857133 xref: UMLS:C1863353 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0002776 name: Mild spondyloepiphyseal dysplasia namespace: medical_genetics synonym: "Spondyloepiphyseal dysplasia, mild" EXACT [] xref: UMLS:C0038015 xref: UMLS:C0547040 xref: UMLS:C1858088 is_a: HP:0002655 ! Spondyloepiphyseal dysplasia [Term] id: HP:0002777 name: Tracheal stenosis namespace: medical_genetics xref: UMLS:C0040583 is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0002778 name: Abnormality of the trachea namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040578 xref: UMLS:C1278905 xref: UMLS:C1704258 is_a: HP:0005607 ! Abnormality of the tracheobronchial system [Term] id: HP:0002779 name: Tracheomalacia namespace: medical_genetics xref: UMLS:C0948187 is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0002780 name: Bronchomalacia namespace: medical_genetics xref: UMLS:C0264353 xref: UMLS:C0340231 is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0002781 name: Upper airway obstruction namespace: medical_genetics xref: UMLS:C0740852 is_a: HP:0002087 ! Abnormality of the upper respiratory tract [Term] id: HP:0002783 name: Recurrent lower respiratory tract infections namespace: medical_genetics alt_id: HP:0005955 synonym: "Chronic lung infections" EXACT [] synonym: "Lower respiratory tract infections" EXACT [] xref: UMLS:C0034897 xref: UMLS:C0149725 xref: UMLS:C0205191 xref: UMLS:C0441994 xref: UMLS:C0863094 xref: UMLS:C0876973 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0002785 name: Recurrent bronchitis namespace: medical_genetics xref: UMLS:C0741796 is_a: HP:0002837 ! Bronchitis [Term] id: HP:0002786 name: Tracheobronchomalacia namespace: medical_genetics xref: UMLS:C0340231 is_a: HP:0002109 ! Abnormality of the bronchi is_a: HP:0002779 ! Tracheomalacia [Term] id: HP:0002787 name: Tracheal calcifications namespace: medical_genetics def: "Calcification (abnormal deposits of calcium) in the tracheal tissues." [HPO:curators] xref: UMLS:C0264324 is_a: HP:0002778 ! Abnormality of the trachea is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0002788 name: Recurrent upper respiratory tract infections namespace: medical_genetics alt_id: HP:0002784 synonym: "Recurrent upper respiratory infection" EXACT [] synonym: "Recurrent upper respiratory infections" EXACT [] synonym: "Upper respiratory tract infections" EXACT [] xref: UMLS:C0041912 xref: UMLS:C0581381 xref: UMLS:C0749871 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0002789 name: Tachypnea namespace: medical_genetics xref: UMLS:C0231835 is_a: HP:0004346 ! Increased respiratory rate or depth of breathing [Term] id: HP:0002790 name: Neonatal breathing dysregulation namespace: medical_genetics xref: UMLS:C1837722 is_a: HP:0005957 ! Breathing dysregulation [Term] id: HP:0002791 name: Hypoventilation namespace: medical_genetics xref: UMLS:C0398353 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002792 name: Reduced vital capacity namespace: medical_genetics synonym: "Decreased vital capacity" EXACT [] xref: UMLS:C0476408 xref: UMLS:C0520831 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002793 name: Abnormal respiratory patterns namespace: medical_genetics xref: UMLS:C1837388 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002794 name: Apnea during seizure spells namespace: medical_genetics def: "Recurrent episodes of apnea occurring during seizures." [HPO:curators] comment: TODO: Revise annotations using this term. synonym: "Apnea during seizures" EXACT [] xref: UMLS:C0003578 xref: UMLS:C0036572 xref: UMLS:C0302539 xref: UMLS:C1959629 xref: UMLS:C1963065 is_a: HP:0001250 ! Seizures is_a: HP:0002104 ! Apnea [Term] id: HP:0002795 name: Functional respiratory abnormality namespace: medical_genetics comment: This category describes not-primarily structural lesions. xref: UMLS:C0205245 xref: UMLS:C0542341 xref: UMLS:C1260922 is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0002797 name: Osteolysis namespace: medical_genetics 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: "Osteolytic defects of bones" EXACT [] xref: UMLS:C0029435 xref: UMLS:C0243067 xref: UMLS:C0262950 xref: UMLS:C1266909 xref: UMLS:C1518633 is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0002799 name: Mild osteopenia namespace: medical_genetics def: "Mild degree of osteopenia." [HPO:curators] xref: UMLS:C1849057 is_a: HP:0000938 ! Osteopenia [Term] id: HP:0002803 name: Congenital contractures namespace: medical_genetics synonym: "Congenital joint contractures" EXACT [] xref: UMLS:C0332878 xref: UMLS:C1393851 is_a: HP:0001371 ! Contractures [Term] id: HP:0002804 name: Arthrogryposis multiplex congenita namespace: medical_genetics alt_id: HP:0001390 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 [] xref: UMLS:C0003886 xref: UMLS:C1832739 is_a: HP:0002803 ! Congenital contractures [Term] id: HP:0002805 name: Accelerated bone age after puberty namespace: medical_genetics xref: UMLS:C0034011 xref: UMLS:C0429620 xref: UMLS:C0521110 is_a: HP:0005616 ! Accelerated skeletal maturation [Term] id: HP:0002808 name: Kyphosis namespace: medical_genetics alt_id: HP:0002769 synonym: "Gibbus deformity" EXACT [] synonym: "Severe kyphosis" EXACT [] xref: UMLS:C0022821 xref: UMLS:C0022822 xref: UMLS:C0205082 xref: UMLS:C0265673 xref: UMLS:C0744400 xref: UMLS:C1519275 is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0002810 name: Dumbbell-shaped metaphyses namespace: medical_genetics synonym: "Dumbbell shaped metaphyses" EXACT [] xref: UMLS:C0222671 xref: UMLS:C0332479 xref: UMLS:C0522512 is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0002812 name: Coxa vara namespace: medical_genetics def: "Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the ball 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: UMLS:C0152431 xref: UMLS:C0239138 is_a: HP:0003272 ! Abnormality of the hip [Term] id: HP:0002813 name: Abnormality of the extremities namespace: medical_genetics def: "Any abnormality of the arms or legs." [HPO:curators] synonym: "Limb abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0015385 xref: UMLS:C0239337 xref: UMLS:C1704258 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002814 name: Abnormality of the lower limb namespace: medical_genetics def: "An abnormality of the `leg` (FMA:24979)." [HPO:curators] synonym: "Lower limb deformities" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0023216 xref: UMLS:C1096086 xref: UMLS:C1704258 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0002815 name: Abnormality of the knees namespace: medical_genetics def: "An abnormality of the knee joint or surrounding structures." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0022742 xref: UMLS:C1704258 is_a: HP:0100491 ! Abnormality of the joints of the lower limbs [Term] id: HP:0002816 name: Genu recurvatum namespace: medical_genetics synonym: "Genu recurvata" EXACT [] xref: UMLS:C0152235 xref: UMLS:C0546964 xref: UMLS:C1845113 is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0002817 name: Abnormality of the upper limb namespace: medical_genetics alt_id: HP:0003838 def: "An abnormality of the `arm` (FMA:24890)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C1140618 xref: UMLS:C1704258 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0002818 name: Abnormality of the radius namespace: medical_genetics def: "An abnormality of the `radius` (FMA:23463)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0034627 xref: UMLS:C1279083 xref: UMLS:C1306504 xref: UMLS:C1704258 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0002820 name: Large hands and feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0347981 xref: UMLS:C0426870 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0002821 name: Neuropathic arthropathy namespace: medical_genetics xref: UMLS:C0003892 is_a: HP:0003040 ! Arthropathy [Term] id: HP:0002822 name: Hyperplasia of the femoral trochanters namespace: medical_genetics synonym: "Hyperplastic femoral trochanters" EXACT [] xref: UMLS:C0015811 xref: UMLS:C0020507 xref: UMLS:C0162370 is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0002823 name: Abnormality of the femur namespace: medical_genetics def: "Abnormality of the `femur` (FMA:9611)." [HPO:probinson] comment: The femur (plural: femora) is the thigh bone. synonym: "Abnormality of the femora" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0015811 xref: UMLS:C1279112 xref: UMLS:C1704258 is_a: HP:0001439 ! Abnormality of the thigh [Term] id: HP:0002825 name: Caudal appendage namespace: medical_genetics def: "The presence of a tail-like skin appendage located adjacent to the sacrum." [HPO:probinson] synonym: "Coccygeal tail" EXACT [] xref: UMLS:C0039259 xref: UMLS:C0205097 xref: UMLS:C0598782 xref: UMLS:C1550233 is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0002826 name: Halberd-shaped pelvis namespace: medical_genetics xref: UMLS:C0030797 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1279864 is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0002827 name: Dislocated hips namespace: medical_genetics alt_id: HP:0001375 synonym: "Dislocation of hip" EXACT [] synonym: "Hip dislocation" EXACT [] synonym: "Hip subluxation" EXACT [] xref: UMLS:C0012691 xref: UMLS:C0019552 xref: UMLS:C0019554 xref: UMLS:C0022122 xref: UMLS:C0434785 is_a: HP:0001373 ! Joint dislocation is_a: HP:0001384 ! Abnormality of the hip joint is_a: HP:0003272 ! Abnormality of the hip [Term] id: HP:0002828 name: Multiple joint contractures namespace: medical_genetics xref: UMLS:C0158118 is_a: HP:0001371 ! Contractures [Term] id: HP:0002829 name: Arthralgia namespace: medical_genetics synonym: "Arthralgias" EXACT [] synonym: "Joint pain" EXACT [] xref: UMLS:C0003862 xref: UMLS:C1963066 is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0002831 name: Long coccyx namespace: medical_genetics xref: UMLS:C0009194 xref: UMLS:C0205166 xref: UMLS:C1279101 xref: UMLS:C1706317 is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0002832 name: Calcific stippling namespace: medical_genetics 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 is_a: HP:0010766 ! Ectopic calcifications is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0002833 name: Lytic cystic lesions in appendicular bones (occurs after puberty) namespace: medical_genetics synonym: "Lytic cystic lesions in appendicular bones" EXACT [] xref: UMLS:C0024348 xref: UMLS:C0034011 xref: UMLS:C0262950 xref: UMLS:C0439680 xref: UMLS:C0598782 xref: UMLS:C1266909 xref: UMLS:C1511606 xref: UMLS:C1709305 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0002834 name: Flared femurs and humeri namespace: medical_genetics xref: UMLS:C0015811 xref: UMLS:C0020164 xref: UMLS:C1279075 xref: UMLS:C1279112 xref: UMLS:C1517205 is_a: HP:0002823 ! Abnormality of the femur is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0002835 name: Aspiration namespace: medical_genetics xref: UMLS:C0004048 xref: UMLS:C0220787 xref: UMLS:C0349707 xref: UMLS:C0700198 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002836 name: Bladder exstrophy namespace: medical_genetics def: "`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." [HPO:probinson] xref: UMLS:C0005689 is_a: HP:0000014 ! Abnormality of the bladder is_a: HP:0100548 ! Exstrophy of gastrointestinal and/or genitourinary organs [Term] id: HP:0002837 name: Bronchitis namespace: medical_genetics xref: UMLS:C0006277 xref: UMLS:C0149514 is_a: HP:0002788 ! Recurrent upper respiratory tract infections [Term] id: HP:0002839 name: Sphincter disturbances (bladder) namespace: medical_genetics xref: UMLS:C0005682 xref: UMLS:C1281573 xref: UMLS:C1843663 is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0002840 name: Lymphadenitis namespace: medical_genetics def: "Inflammation of a `lymph node` (FMA:5034)." [HPO:probinson] xref: UMLS:C0024205 is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002841 name: Fungal infections, recurrent namespace: medical_genetics xref: UMLS:C0026946 xref: UMLS:C0034897 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002842 name: Burkholderia cepacia infections namespace: medical_genetics xref: UMLS:C1610617 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0002843 name: Abnormality of T cells namespace: medical_genetics alt_id: HP:0002734 def: "An abnormality of `T cells` (CL:0000084)." [HPO:curators] comment: T-cells are lymphocytes whose principle function in the adaptive immune system is to mediate cell-mediated immunity. synonym: "Cellular immune defect" EXACT [] synonym: "Defective cellular immunity" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0039194 xref: UMLS:C1533651 xref: UMLS:C1704258 xref: UMLS:C1855752 is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0002844 name: Variable degree of T cell dysfunction namespace: medical_genetics xref: UMLS:C0031847 xref: UMLS:C0039194 xref: UMLS:C0277785 xref: UMLS:C0439828 xref: UMLS:C0441889 xref: UMLS:C0542560 xref: UMLS:C1561545 xref: UMLS:C1705098 xref: UMLS:C2348088 is_a: HP:0005435 ! Impaired T cell function [Term] id: HP:0002845 name: Increased number of peripheral CD3+ T cells namespace: medical_genetics xref: UMLS:C0205100 xref: UMLS:C0205217 xref: UMLS:C0237753 xref: UMLS:C0442805 xref: UMLS:C0449788 xref: UMLS:C2025558 is_a: HP:0002843 ! Abnormality of T cells [Term] id: HP:0002846 name: Abnormality of B cells namespace: medical_genetics def: "An abnormality of `B cells` (CL:0000236)." [HPO:probinson] comment: B-cells are lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. xref: UMLS:C0000768 xref: UMLS:C0004561 xref: UMLS:C1704258 is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0002847 name: Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation namespace: medical_genetics xref: UMLS:C0004561 xref: UMLS:C0021017 xref: UMLS:C0031847 xref: UMLS:C0079411 xref: UMLS:C0205225 xref: UMLS:C0277785 xref: UMLS:C0439631 xref: UMLS:C0682638 xref: UMLS:C1707719 is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0002848 name: Moderately depressed antibody response to polysaccharide antigens namespace: medical_genetics xref: UMLS:C0003261 xref: UMLS:C0003320 xref: UMLS:C0032594 xref: UMLS:C0344315 xref: UMLS:C0580327 xref: UMLS:C1579931 xref: UMLS:C1881878 xref: UMLS:C2348281 is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0002849 name: Absence of lymph node germinal center namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Lymph nodes lack germinal center" EXACT [] synonym: "Lymphoid germinal center defect" EXACT [] xref: UMLS:C0024204 xref: UMLS:C0282491 xref: UMLS:C0332268 xref: UMLS:C1457869 xref: UMLS:C1518071 xref: UMLS:C1861101 is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002850 name: Decreased IgM namespace: medical_genetics alt_id: HP:0003147 def: "An abnormally decreased level of immunoglobulin IgM in blood." [HPO:probinson] synonym: "Decreased IgM level" EXACT [] synonym: "Reduced IgM levels" EXACT [] xref: UMLS:C0205216 xref: UMLS:C0239989 xref: UMLS:C0392756 xref: UMLS:C0441889 xref: UMLS:C0456079 xref: UMLS:C1843530 xref: UMLS:C2188709 is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0002851 name: Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors namespace: medical_genetics xref: UMLS:C0039194 xref: UMLS:C0085247 xref: UMLS:C0205217 xref: UMLS:C0237753 xref: UMLS:C0442805 xref: UMLS:C0449788 is_a: HP:0002843 ! Abnormality of T cells [Term] id: HP:0002853 name: Increased proportion of HLA DR+ and CD57+ T cells namespace: medical_genetics xref: UMLS:C0019764 xref: UMLS:C0039194 xref: UMLS:C0054965 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C1709707 is_a: HP:0002843 ! Abnormality of T cells [Term] id: HP:0002854 name: Serum IgA, IgG, and IgE severely deficient namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0205082 xref: UMLS:C1636779 xref: UMLS:C2229758 is_a: HP:0002720 ! Decreased IgA is_a: HP:0004315 ! Decreased IgG level is_a: HP:0005479 ! Decreased IgE [Term] id: HP:0002855 name: Abnormality of aldosterone production namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0002006 xref: UMLS:C0033268 xref: UMLS:C1704258 is_a: HP:0000849 ! Adrenocortical abnormality created_by: peter creation_date: 2008-02-25T10:42:00Z [Term] id: HP:0002856 name: Absence of B cells namespace: medical_genetics def: "An absence of B cells` (CL:0000236)." [HPO:probinson] synonym: "Absent B cells" EXACT [] xref: UMLS:C1863715 is_a: HP:0010976 ! Reduction in B cell number [Term] id: HP:0002857 name: Genu valgum namespace: medical_genetics synonym: "Genu valga" EXACT [] synonym: "Genu valgus" EXACT [] synonym: "Genua valga" EXACT [] xref: UMLS:C0576093 is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0002858 name: Meningioma namespace: medical_genetics def: "The presence of a `meningioma` (MPATH:251), i.e., a benign tumor originating from the `dura mater` (FMA:9592) or `arachnoid mater` (FMA:9591)." [HPO:probinson] synonym: "Meligioma" EXACT [] synonym: "Mengioma" EXACT [] synonym: "Mengiomia" EXACT [] synonym: "Menigiom" EXACT [] synonym: "Menigioma" EXACT [] xref: UMLS:C0025286 xref: UMLS:C1762616 is_a: HP:0100006 ! Neoplasm of the central nervous system [Term] id: HP:0002859 name: Rhabdomyosarcoma namespace: medical_genetics xref: UMLS:C0035412 is_a: HP:0009728 ! Tumors of striated muscle is_a: HP:0100242 ! Sarcoma [Term] id: HP:0002860 name: Squamous cell carcinoma namespace: medical_genetics def: "The presence of `squamous cell carcinoma` (MPATH:446) of the `skin` (FMA:7163)." [HPO:probinson] xref: UMLS:C0007137 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0002861 name: Malignant melanoma namespace: medical_genetics alt_id: HP:0002887 alt_id: HP:0007474 def: "The presence of a `melanoma` (MPATH:359) of the `skin` (FMA:7163)." [HPO:probinson] comment: A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis. synonym: "Cutaneous malignant melanoma" EXACT [] synonym: "Melanoma" EXACT [] xref: UMLS:C0025202 xref: UMLS:C0151779 xref: UMLS:C0796561 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0002862 name: Bladder carcinoma namespace: medical_genetics def: "The presence of a `carcinoma` (MPATH:549) of the `urinary bladder` (FMA:15900)." [HPO:probinson] xref: UMLS:C0699885 is_a: HP:0009725 ! Bladder neoplasm [Term] id: HP:0002863 name: Myelodysplasia namespace: medical_genetics xref: UMLS:C0026985 xref: UMLS:C0026986 xref: UMLS:C1963099 is_a: HP:0004377 ! Hematological neoplasia [Term] id: HP:0002864 name: Paraganglioma of head and neck namespace: medical_genetics synonym: "Paragangliomas, head and neck " EXACT [] xref: UMLS:C0018670 xref: UMLS:C0027530 xref: UMLS:C0030421 xref: UMLS:C1281590 xref: UMLS:C1281592 is_a: HP:0002668 ! Paragangliomas [Term] id: HP:0002865 name: Medullary thyroid carcinoma namespace: medical_genetics def: "The presence of a `medullary carcinoma` (MPATH:291) of the `thyroid gland` (FMA:9603)." [HPO:probinson] xref: UMLS:C0238462 is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0002866 name: Hypoplastic iliac wings namespace: medical_genetics alt_id: HP:0003169 synonym: "Hypoplastic iliac alae" EXACT [] synonym: "Hypoplastic iliac wing" EXACT [] synonym: "Small iliac wings" EXACT [] xref: UMLS:C1850045 xref: UMLS:C1861530 xref: UMLS:C1865027 is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0002867 name: Abnormality of the ilium namespace: medical_genetics def: "An abnormality of the ilium, the largest and uppermost bone of the pelvis." [HPO:curators] synonym: "Iliac abnormalities" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0020889 xref: UMLS:C1279102 xref: UMLS:C1704258 is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0002868 name: Narrow iliac wings namespace: medical_genetics xref: UMLS:C0020889 xref: UMLS:C0043189 xref: UMLS:C0332463 xref: UMLS:C0333164 is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0002869 name: Flared iliac wings namespace: medical_genetics synonym: "Flared iliac wing" EXACT [] xref: UMLS:C0020889 xref: UMLS:C0043189 xref: UMLS:C1517205 is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0002870 name: Obstructive sleep apnea namespace: medical_genetics 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:curators] synonym: "Obstructive sleep apnoea" RELATED [] xref: UMLS:C0520679 is_a: HP:0010535 ! Sleep apnea [Term] id: HP:0002871 name: Central apnea namespace: medical_genetics 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 is_a: HP:0002104 ! Apnea [Term] id: HP:0002872 name: Apneic episodes precipitated by illness, fatigue, stress namespace: medical_genetics def: "Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress." [HPO:curators] synonym: "Ataxia, episodic, occurring after febrile illness or stress" EXACT [] xref: UMLS:C0004134 xref: UMLS:C0015672 xref: UMLS:C0038435 xref: UMLS:C0221423 xref: UMLS:C0743841 xref: UMLS:C1455761 xref: UMLS:C1709305 xref: UMLS:C1838679 xref: UMLS:C1882443 xref: UMLS:C2024893 xref: UMLS:C2364051 is_a: HP:0002104 ! Apnea [Term] id: HP:0002873 name: Recurrent upper and lower respiratory tract infections namespace: medical_genetics synonym: "Frequent upper and lower respiratory tract infections" EXACT [] xref: UMLS:C0034897 xref: UMLS:C0149725 xref: UMLS:C0332183 xref: UMLS:C1282910 is_a: HP:0002783 ! Recurrent lower respiratory tract infections is_a: HP:0002788 ! Recurrent upper respiratory tract infections [Term] id: HP:0002874 name: Polypnea namespace: medical_genetics xref: UMLS:C1142291 is_a: HP:0004346 ! Increased respiratory rate or depth of breathing [Term] id: HP:0002875 name: Exertional dyspnea namespace: medical_genetics xref: UMLS:C0231807 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002876 name: Tachypnea, episodic namespace: medical_genetics alt_id: HP:0002881 synonym: "Hyperpnea, episodic" EXACT [] xref: UMLS:C0220854 xref: UMLS:C0231835 xref: UMLS:C1455761 is_a: HP:0002789 ! Tachypnea [Term] id: HP:0002877 name: Nocturnal hypoventilation namespace: medical_genetics xref: UMLS:C1843643 is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0002878 name: Early respiratory failure namespace: medical_genetics xref: UMLS:C1843642 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002879 name: Anisospondyly namespace: medical_genetics xref: UMLS:C1857101 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0002880 name: Respiratory difficulties namespace: medical_genetics xref: UMLS:C0013404 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002882 name: Sudden episodic apnea, severe, may cause death namespace: medical_genetics def: "Recurrent bouts of sudden, severe apnea that may be life-threatening." [HPO:curators] xref: UMLS:C0003578 xref: UMLS:C0011065 xref: UMLS:C0205082 xref: UMLS:C1276802 xref: UMLS:C1306577 xref: UMLS:C1455761 xref: UMLS:C1519275 xref: UMLS:C1524003 xref: UMLS:C1963065 is_a: HP:0002104 ! Apnea [Term] id: HP:0002883 name: Hyperventilation namespace: medical_genetics xref: UMLS:C0020578 is_a: HP:0004346 ! Increased respiratory rate or depth of breathing [Term] id: HP:0002884 name: Hepatoblastoma namespace: medical_genetics def: "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." [eMedicine:986802, HPO:probinson] comment: Hepatoblastoma occurs nearly exclusively in infants and children. xref: UMLS:C0206624 is_a: HP:0002896 ! Neoplasm of the liver [Term] id: HP:0002885 name: Medulloblastoma namespace: medical_genetics def: "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." [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: UMLS:C0025149 is_a: HP:0100006 ! Neoplasm of the central nervous system [Term] id: HP:0002886 name: Vagal paraganglioma namespace: medical_genetics synonym: "Glomus vagale paraganglioma" RELATED [] synonym: "Vagal nerve tumors" EXACT [] synonym: "Vagal nerve tumors (glomus vagale)" EXACT [] xref: UMLS:C1334956 xref: UMLS:C1510461 is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0002888 name: Ependymoma namespace: medical_genetics def: "The presence of an `ependymoma` (MPATH:247) of the `central nervous system` (FMA:55675)." [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: UMLS:C0014474 is_a: HP:0009733 ! Glioma [Term] id: HP:0002889 name: Adrenal carcinoma namespace: medical_genetics xref: UMLS:C1370740 is_a: HP:0100631 ! Adrenal neoplasia [Term] id: HP:0002890 name: Thyroid carcinoma namespace: medical_genetics def: "The presence of a `carcinoma` (MPATH:549) of the `thyroid gland` (FMA:9603)." [HPO:probinson] xref: UMLS:C0549473 is_a: HP:0100031 ! Neoplasm of the thyroid gland [Term] id: HP:0002891 name: Uterine leiomyosarcoma namespace: medical_genetics def: "The presence of a `leiomyosarcoma` (MPATH:426) of the `uterus` (FMA:17558)." [HPO:probinson] comment: Leiomyosarcoma is a malignant tumor derived form pluripotential mesenchymal stem cells or smooth muscle cells [MPATH]. xref: UMLS:C0280631 is_a: HP:0010784 ! Uterine neoplasm is_a: HP:0100243 ! Leiomyosarcoma [Term] id: HP:0002893 name: Pituitary adenoma namespace: medical_genetics xref: UMLS:C0032000 is_a: HP:0100568 ! Endocrine neoplasia [Term] id: HP:0002894 name: Neoplasm of the pancreas namespace: medical_genetics alt_id: HP:0004511 def: "The presence of a `neoplasm` (MPATH:218) of the `pancreas` (FMA:7198)." [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:C0006826 xref: UMLS:C0027651 xref: UMLS:C0030274 xref: UMLS:C0035647 xref: UMLS:C0205217 xref: UMLS:C0235974 xref: UMLS:C0346647 xref: UMLS:C0442805 xref: UMLS:C0771711 xref: UMLS:C0998265 xref: UMLS:C1278931 xref: UMLS:C1306459 is_a: HP:0001732 ! Abnormality of the pancreas is_a: HP:0002664 ! Neoplasia [Term] id: HP:0002895 name: Papillary thyroid carcinoma namespace: medical_genetics def: "The presence of a `papillary adenocarcinoma` (MPATH:295) of the `thyroid gland` (FMA:9603)." [HPO:probinson] synonym: "Papillary carcinoma of thyroid" EXACT [] synonym: "Thyroid papillary carcinoma" EXACT [] xref: UMLS:C0007133 xref: UMLS:C0040132 xref: UMLS:C0238463 xref: UMLS:C0279175 xref: UMLS:C2228489 is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0002896 name: Neoplasm of the liver namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `liver` (FMA:7197)." [HPO:probinson] synonym: "Liver cancer" EXACT [] xref: UMLS:C0023903 xref: UMLS:C0279000 xref: UMLS:C0345904 is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0007378 ! Gastrointestinal tract neoplasia [Term] id: HP:0002897 name: Parathyroid adenoma namespace: medical_genetics synonym: "Parathyroid adenomas" EXACT [] xref: UMLS:C0262587 is_a: HP:0100568 ! Endocrine neoplasia [Term] id: HP:0002898 name: Embryonal tumors namespace: medical_genetics xref: UMLS:C0027654 is_a: HP:0002664 ! Neoplasia [Term] id: HP:0002900 name: Hypokalemia namespace: medical_genetics def: "An abnormally decreased `potassium` (CHEBI:29103) concentration in the blood." [HPO:probinson] xref: UMLS:C0020621 is_a: HP:0011042 ! Abnormality of potassium homeostasis [Term] id: HP:0002901 name: Hypocalcemia namespace: medical_genetics def: "An abnormally decreased `calcium` (CHEBI:29108) concentration in the blood." [HPO:curators] synonym: "Hypocalcaemia" EXACT [] xref: UMLS:C0020598 is_a: HP:0003111 ! Abnormality of ion homeostasis is_a: HP:0004363 ! Abnormality of calcium homeostasis [Term] id: HP:0002902 name: Hyponatremia namespace: medical_genetics def: "An abnormally decreased `sodium` (CHEBI:29101) concentration in the blood." [HPO:probinson] xref: UMLS:C0020625 is_a: HP:0010931 ! Abnormality of sodium homeostasis [Term] id: HP:0002904 name: Hyperbilirubinemia namespace: medical_genetics def: "An increased amount of `bilirubin` (CHEBI:16990) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C0020433 xref: UMLS:C0311468 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0002905 name: Hyperphosphatemia namespace: medical_genetics def: "An abnormally increased `phosphate` (CHEBI:18367) concentration in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C0085681 is_a: HP:0100529 ! Abnormality of phosphate homeostasis [Term] id: HP:0002907 name: Microhematuria namespace: medical_genetics def: "Microscopic hematuria detected by dipstick or microscopic examination of the urine." [HPO:sdoelken] synonym: "Microscopic hematuria" EXACT [] xref: UMLS:C0239937 is_a: HP:0000790 ! Hematuria [Term] id: HP:0002908 name: Conjugated hyperbilirubinemia namespace: medical_genetics alt_id: HP:0008351 synonym: "Direct hyperbilirubinemia" EXACT [] xref: UMLS:C0268307 xref: UMLS:C1859663 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0002909 name: Generalized aminoaciduria namespace: medical_genetics xref: UMLS:C1847868 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0002910 name: Elevated transaminases namespace: medical_genetics 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:curators] synonym: "Elevated hepatic transaminases" EXACT [] synonym: "Elevated serum transaminases" EXACT [] synonym: "Increased transaminases" EXACT [] xref: UMLS:C0438717 xref: UMLS:C1848701 xref: UMLS:C1863696 is_a: HP:0001411 ! Abnormal liver function tests [Term] id: HP:0002912 name: Methylmalonic acidemia namespace: medical_genetics alt_id: HP:0003123 alt_id: HP:0008295 comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. synonym: "Methylmalonic aciduria" EXACT [] synonym: "Methylmalonic aciduria, mild" EXACT [] synonym: "Methymalonicaciduria" EXACT [] xref: UMLS:C0268583 xref: UMLS:C0547040 xref: UMLS:C1855119 is_a: HP:0003355 ! Aminoaciduria is_a: HP:0004341 ! Abnormality of the vitamin B12 metabolism [Term] id: HP:0002913 name: Myoglobinuria namespace: medical_genetics xref: UMLS:C0027080 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0002914 name: Increased urinary chloride namespace: medical_genetics xref: UMLS:C1846352 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0002916 name: Abnormality of chromosome segregation namespace: medical_genetics def: "An abnormality of `chromosome segregation` (GO:0007059)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0008633 xref: UMLS:C1704258 is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0002917 name: Hypomagnesemia namespace: medical_genetics def: "An abnormally decreased `magnesium` (CHEBI:18420) concentration in the blood." [HPO:probinson] xref: UMLS:C0151723 is_a: HP:0004921 ! Abnormality of magnesium homeostasis [Term] id: HP:0002918 name: Hypermagnesemia namespace: medical_genetics def: "An abnormally increased `magnesium` (CHEBI:18420) concentration in the blood." [HPO:probinson] xref: UMLS:C0151714 xref: UMLS:C1522135 is_a: HP:0004921 ! Abnormality of magnesium homeostasis [Term] id: HP:0002919 name: Ketonuria namespace: medical_genetics xref: UMLS:C0162275 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0002920 name: Decreased serum ACTH namespace: medical_genetics xref: UMLS:C1968856 is_a: HP:0011043 ! Abnormality of circulating adrenocorticotropin level [Term] id: HP:0002921 name: Abnormality of the cerebrospinal fluid namespace: medical_genetics def: "An abnormality of the `cerebrospinal fluid (CSF)` (FMA:20935)." [HPO:probinson] synonym: "Abnormal CSF findings" EXACT [] synonym: "Abnormality of the CSF" EXACT [] xref: UMLS:C0205161 xref: UMLS:C0243095 xref: UMLS:C2347472 is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0002922 name: Increased CSF protein namespace: medical_genetics 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:C0007806 xref: UMLS:C0007807 xref: UMLS:C0033684 xref: UMLS:C0201943 xref: UMLS:C0202202 xref: UMLS:C0205217 xref: UMLS:C0205250 xref: UMLS:C0442805 xref: UMLS:C1806780 is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid [Term] id: HP:0002923 name: Rheumatoid factor positive namespace: medical_genetics def: "The presence in the serum of an autoantibody directed against the Fc portion of IgG." [HPO:probinson] xref: UMLS:C0151379 xref: UMLS:C0409651 is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0002924 name: Decreased circulating aldosterone level namespace: medical_genetics def: "A decreased level of `aldosterone` (CHEBI:27584) in the `blood` (FMA:9670)." [HPO:probinson] synonym: "Decreased aldosterone" EXACT [] synonym: "Decreased serum aldosterone" EXACT [] xref: UMLS:C0857899 xref: UMLS:C0858237 is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0002925 name: Increased serum thyroid-stimulating hormone (TSH) namespace: medical_genetics 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 [] xref: UMLS:C0040160 xref: UMLS:C0202230 xref: UMLS:C0205217 xref: UMLS:C0205250 xref: UMLS:C0428414 xref: UMLS:C0442805 xref: UMLS:C0857986 xref: UMLS:C1299351 xref: UMLS:C1535531 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0002926 name: Abnormality of thyroid physiology namespace: medical_genetics def: "An abnormal `functionality` (PATO:0001509) of the `thyroid gland` (FMA:9603)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0040132 xref: UMLS:C0279175 xref: UMLS:C1254595 xref: UMLS:C1704258 xref: UMLS:C2228489 is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0002927 name: Histidinuria namespace: medical_genetics def: "An increased concentration of `histidine` (CHEBI:27570) in the `urine` (FMA:12274)." [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 is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010905 ! Abnormality of histidine metabolism [Term] id: HP:0002928 name: Decreased activity of the pyruvate dehydrogenase (PDH) complex namespace: medical_genetics synonym: "Pyruvate dehydrogenase complex deficiency" EXACT [] xref: UMLS:C0034344 xref: UMLS:C0034345 xref: UMLS:C0086439 xref: UMLS:C1167289 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0002929 name: Leydig cell insensitivity to gonadotropin namespace: medical_genetics xref: UMLS:C0018061 xref: UMLS:C0023602 xref: UMLS:C0237677 xref: UMLS:C0546642 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0002930 name: Thyroid hormone receptor defect namespace: medical_genetics xref: UMLS:C0034843 xref: UMLS:C1457869 xref: UMLS:C1861101 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0002932 name: Aldehyde oxidase deficiency namespace: medical_genetics def: "A reduction in `aldehyde oxidase activity` (GO:0004031)." [HPO:probinson] comment: Aldehyde oxidase generates carboxylic acids from aldehydes. xref: UMLS:C0011155 xref: UMLS:C0051124 xref: UMLS:C0162429 xref: UMLS:C1623416 is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism [Term] id: HP:0002933 name: Ventral hernia namespace: medical_genetics def: "Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abnominal wall." [HPO:curators] xref: UMLS:C0019326 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0002934 name: Distal limb muscle atrophy due to peripheral neuropathy namespace: medical_genetics xref: UMLS:C0031117 xref: UMLS:C1864224 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0002935 name: Distal limb muscle weakness due to peripheral neuropathy namespace: medical_genetics synonym: "Distal limb muscular weakness due to peripheral neuropathy" EXACT [] synonym: "Distal muscle wasting due to peripheral neuropathy" EXACT [] synonym: "Distal muscle weakness due to peripheral neuropathy" EXACT [] xref: UMLS:C0031117 xref: UMLS:C0427065 xref: UMLS:C1836526 xref: UMLS:C1850192 is_a: HP:0003497 ! Distal limb muscle weakness is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0002936 name: Distal sensory impairment namespace: medical_genetics synonym: "Decreased distal sensation" EXACT [] synonym: "Distal sensory loss" EXACT [] synonym: "Loss of distal sensation" EXACT [] xref: UMLS:C0036658 xref: UMLS:C0205108 xref: UMLS:C0542538 xref: UMLS:C1455667 xref: UMLS:C1517945 xref: UMLS:C1832335 xref: UMLS:C1836340 xref: UMLS:C1847584 xref: UMLS:C2229507 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0002937 name: Hemivertebrae namespace: medical_genetics synonym: "Hemivertebra" EXACT [] xref: UMLS:C0265677 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0002938 name: Lumbar hyperlordosis namespace: medical_genetics 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: "exaggerated lumbar lordosis during childhood and adulthood" EXACT [] synonym: "Increased lumbar lordosis" EXACT [] synonym: "Lumbar lordosis" EXACT [] synonym: "Marked lumbar lordosis" EXACT [] synonym: "mild lumbar lordosis" EXACT [] synonym: "Prominent lumbar lordosis" EXACT [] synonym: "Pronounced lumbar lordosis" EXACT [] synonym: "Severe lumbar lordosis" EXACT [] synonym: "variable lumbar lordosis" EXACT [] xref: UMLS:C0231335 xref: UMLS:C0442801 xref: UMLS:C0522501 xref: UMLS:C0700597 xref: UMLS:C1184923 xref: UMLS:C1706089 xref: UMLS:C1836585 xref: UMLS:C1840339 xref: UMLS:C1854768 xref: UMLS:C1857629 xref: UMLS:C1865025 xref: UMLS:C1865191 xref: UMLS:C1970815 is_a: HP:0003307 ! Hyperlordosis [Term] id: HP:0002939 name: Lordosis namespace: medical_genetics xref: UMLS:C0024003 xref: UMLS:C0599412 is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0002940 name: Mild platyspondyly namespace: medical_genetics alt_id: HP:0008466 synonym: "Platyspondyly, mild" EXACT [] xref: UMLS:C0547040 xref: UMLS:C1848999 xref: UMLS:C1865023 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0002942 name: Thoracic kyphosis namespace: medical_genetics synonym: "Accentuated thoracic kyphosis" EXACT [] synonym: "Exaggerated thoracic kyphosis" EXACT [] xref: UMLS:C1184919 xref: UMLS:C1836686 xref: UMLS:C1846155 is_a: HP:0002808 ! Kyphosis [Term] id: HP:0002943 name: Thoracic scoliosis namespace: medical_genetics xref: UMLS:C1857790 is_a: HP:0002942 ! Thoracic kyphosis [Term] id: HP:0002944 name: Thoracolumbar scoliosis namespace: medical_genetics alt_id: HP:0004567 alt_id: HP:0004585 synonym: "mild thoracolumbar scoliosis" EXACT [] synonym: "scoliosis, thoracolumbar, severe, progressive" EXACT [] xref: UMLS:C0036439 xref: UMLS:C0205082 xref: UMLS:C0205329 xref: UMLS:C0450219 xref: UMLS:C0547040 xref: UMLS:C0559260 xref: UMLS:C0700208 xref: UMLS:C0749379 xref: UMLS:C1519275 xref: UMLS:C1839253 is_a: HP:0002650 ! Scoliosis [Term] id: HP:0002945 name: Intervertebral space narrowing namespace: medical_genetics def: "`Decreased height` (PATO:0000569) of the `intervertebral disk` (FMA:10446)." [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 [] xref: UMLS:C0021815 xref: UMLS:C0223088 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1280211 xref: UMLS:C1282604 xref: UMLS:C1710137 xref: UMLS:C1883067 is_a: HP:0005108 ! Abnormality of the intervertebral disk [Term] id: HP:0002946 name: Supernumerary vertebrae namespace: medical_genetics xref: UMLS:C0265681 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 namespace: medical_genetics xref: UMLS:C0575170 is_a: HP:0002808 ! Kyphosis [Term] id: HP:0002948 name: Vertebral fusion namespace: medical_genetics alt_id: HP:0002807 alt_id: HP:0008485 def: "A developmental defect leading to the union of two adjacent vertebrae." [HPO:curators] synonym: "Fused vertebrae" EXACT [] synonym: "Fusion of vertebral bodies" EXACT [] synonym: "Spinal fusion" EXACT [] synonym: "Vertebral body fusion" EXACT [] xref: UMLS:C0037935 xref: UMLS:C0223084 xref: UMLS:C0332466 xref: UMLS:C1293131 xref: UMLS:C1835763 xref: UMLS:C1849073 xref: UMLS:C1851715 is_a: HP:0003468 ! Abnormality of the vertebrae is_a: HP:0100240 ! Synostosis of joints [Term] id: HP:0002949 name: Fused cervical vertebrae namespace: medical_genetics synonym: "Cervical vertebral fusion" EXACT [] synonym: "Fusion of cervical vertebrae" EXACT [] xref: UMLS:C0022738 xref: UMLS:C0332466 xref: UMLS:C0728985 xref: UMLS:C1293131 xref: UMLS:C1846468 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0002951 name: Partial or complete absence of cerebellar vermis namespace: medical_genetics xref: UMLS:C0205197 xref: UMLS:C0228482 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1281000 xref: UMLS:C1550516 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0002335 ! Agenesis of cerebellar vermis [Term] id: HP:0002952 name: Codfish vertebrae namespace: medical_genetics synonym: "Biconcave 'codfish' vertebrae" EXACT [] xref: UMLS:C0750210 xref: UMLS:C1849077 xref: UMLS:C2347822 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0002953 name: Vertebral compression fractures namespace: medical_genetics 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:C0016658 xref: UMLS:C0223084 xref: UMLS:C0332521 xref: UMLS:C0410550 xref: UMLS:C1848445 xref: UMLS:C1853165 xref: UMLS:C1856526 xref: UMLS:C1880851 is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0002955 name: Tissue biopsy shows granulomas namespace: medical_genetics xref: UMLS:C0005558 xref: UMLS:C0018188 xref: UMLS:C0040300 xref: UMLS:C0220797 xref: UMLS:C1547282 xref: UMLS:C1547928 is_a: HP:0004311 ! Abnormality of macrophages [Term] id: HP:0002957 name: Predisposition to severe infections namespace: medical_genetics alt_id: HP:0005405 synonym: "Frequent, severe infections" EXACT [] xref: UMLS:C0012655 xref: UMLS:C0021311 xref: UMLS:C0205082 xref: UMLS:C0220898 xref: UMLS:C1519275 xref: UMLS:C1837338 is_a: HP:0002964 ! Susceptibility to infection [Term] id: HP:0002958 name: Immune dysregulation namespace: medical_genetics xref: UMLS:C1844666 is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002959 name: Impaired Ig class switch recombination namespace: medical_genetics 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 Ig class switch recombination" EXACT [] synonym: "Impaired Ig class-switch recombination (CSR)" EXACT [] xref: UMLS:C0021027 xref: UMLS:C0221099 xref: UMLS:C0305052 xref: UMLS:C0360506 xref: UMLS:C0684336 xref: UMLS:C2248928 is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0002960 name: Autoimmunity namespace: medical_genetics def: "The occurrence of an immune reaction against the organisms own cells or tissues." [HPO:probinson] synonym: "Autoimmune disease" EXACT [] synonym: "Autoimmune disorders" EXACT [] xref: UMLS:C0004364 is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002961 name: Dysgammaglobulinemia namespace: medical_genetics xref: UMLS:C0013374 is_a: HP:0010701 ! Abnormal immunoglobulin level [Term] id: HP:0002962 name: Normal or increased IgM namespace: medical_genetics xref: UMLS:C0205307 xref: UMLS:C0239990 xref: UMLS:C0439166 xref: UMLS:C2347086 is_a: HP:0003496 ! Increased IgM level [Term] id: HP:0002963 name: Abnormal delayed hypersensitivity skin test namespace: medical_genetics comment: This is an immune function test measuring the presence of activated T cells that recognize a certain substance. xref: UMLS:C1833172 is_a: HP:0002843 ! Abnormality of T cells [Term] id: HP:0002964 name: Susceptibility to infection namespace: medical_genetics xref: UMLS:C0012655 xref: UMLS:C0021311 xref: UMLS:C0220898 xref: UMLS:C1264642 xref: UMLS:C1547045 xref: UMLS:C2364133 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002965 name: Cutaneous anergy namespace: medical_genetics comment: Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected. xref: UMLS:C0221117 xref: UMLS:C0221912 xref: UMLS:C1522447 is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0002967 name: Cubitus valgus namespace: medical_genetics comment: Abnormality in which the elbows are turned out. xref: UMLS:C0158465 xref: UMLS:C0265611 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0002968 name: Rhizomelic shortening namespace: medical_genetics synonym: "Rhizomelia" EXACT [] synonym: "Rhizomelic limb shortening" EXACT [] synonym: "Rhizomelic short limbs" EXACT [] synonym: "Symmetrical rhizomelic limb shortening" EXACT [] xref: UMLS:C0239399 xref: UMLS:C1837079 xref: UMLS:C1853168 xref: UMLS:C1857191 xref: UMLS:C1859138 is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0002970 name: Genu varum namespace: medical_genetics synonym: "Genu vara" EXACT [] synonym: "Genua vara" EXACT [] xref: UMLS:C0544755 xref: UMLS:C1836312 xref: UMLS:C1842157 is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0002971 name: Absent microvilli on the surface of peripheral blood lymphocytes namespace: medical_genetics xref: UMLS:C0026049 xref: UMLS:C0205148 xref: UMLS:C0332197 xref: UMLS:C1518997 is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0002972 name: Reduced delayed hypersensitivity namespace: medical_genetics synonym: "Deficiency of delayed skin hypersensitivity" EXACT [] synonym: "Impaired delayed hypersensitivity" EXACT [] xref: UMLS:C0011155 xref: UMLS:C0020522 xref: UMLS:C0162429 xref: UMLS:C0205421 xref: UMLS:C0221099 xref: UMLS:C0392756 xref: UMLS:C0444099 xref: UMLS:C0585186 xref: UMLS:C0684336 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C1623416 is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0002973 name: Abnormality of the forearm namespace: medical_genetics def: "An abnormality of the lower arm." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0016536 xref: UMLS:C1704258 is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0002974 name: Radioulnar synostosis namespace: medical_genetics alt_id: HP:0003962 def: "An abnormal osseous union (fusion) between the radius and the ulna." [HPO:curators] synonym: "Fused forearm bones" EXACT [] xref: UMLS:C0158761 xref: UMLS:C0223680 xref: UMLS:C0699952 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:0002976 name: Curvatures of the femur, tibia, fibula namespace: medical_genetics xref: UMLS:C0015811 xref: UMLS:C0016068 xref: UMLS:C0040184 xref: UMLS:C1279112 xref: UMLS:C1279118 xref: UMLS:C1281580 is_a: HP:0002823 ! Abnormality of the femur is_a: HP:0002991 ! Abnormality of the fibula is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0002977 name: Aplasia/Hypoplasia involving the central nervous system namespace: medical_genetics alt_id: HP:0001323 synonym: "Brain atrophy" RELATED [] xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0927232 xref: UMLS:C1269563 xref: UMLS:C1314939 is_a: HP:0002011 ! Abnormality of the central nervous system created_by: peter creation_date: 2008-03-31T05:13:00Z [Term] id: HP:0002978 name: Knee contractures namespace: medical_genetics synonym: "Contractures of knees" EXACT [] synonym: "Contractures of the knees" EXACT [] synonym: "Flexion contracture of knees" EXACT [] synonym: "Flexion contractures of knees" EXACT [] synonym: "Knee contracture" EXACT [] synonym: "Knee flexion contracture" EXACT [] synonym: "Knee flexion contractures" EXACT [] xref: UMLS:C0009917 xref: UMLS:C0022742 xref: UMLS:C0333068 xref: UMLS:C0409355 xref: UMLS:C1837263 is_a: HP:0002815 ! Abnormality of the knees is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0002979 name: Bowing of the legs namespace: medical_genetics synonym: "Bowed legs" EXACT [] synonym: "Bowed lower limbs" EXACT [] xref: UMLS:C0023216 xref: UMLS:C0152432 xref: UMLS:C0544755 xref: UMLS:C1140621 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0002980 name: Femoral bowing namespace: medical_genetics def: "Bowing (abnormal curvature) of the `femur` (FMA:9611)." [HPO:probinson] xref: UMLS:C1837080 is_a: HP:0002823 ! Abnormality of the femur is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0002981 name: Abnormality of the calf namespace: medical_genetics def: "An abnormality of the `calf` (FMA:24984), i.e. of the posterior part of the lower leg." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0036310 xref: UMLS:C1704258 is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0002982 name: Tibial bowing namespace: medical_genetics alt_id: HP:0006363 def: "A developmental defect with posteromedial tibial angulation." [HPO:curators] synonym: "Bowed tibia" EXACT [] synonym: "Bowing of the tibia" EXACT [] xref: UMLS:C0040184 xref: UMLS:C0544755 xref: UMLS:C1279118 xref: UMLS:C1837081 is_a: HP:0002979 ! Bowing of the legs is_a: HP:0002992 ! Abnormality of the tibia [Term] id: HP:0002983 name: Micromelia namespace: medical_genetics alt_id: HP:0003030 def: "The presence of abnormally small extremities." [HPO:probinson] synonym: "Severe micromelia" EXACT [] xref: UMLS:C0025995 xref: UMLS:C1832986 is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0002984 name: Hypoplasia of the radius namespace: medical_genetics def: "Underdevelopment of the radius." [HPO:curators] synonym: "Hypoplastic radii" EXACT [] synonym: "Hypoplastic radius" EXACT [] synonym: "Radial hypoplasia" EXACT [] xref: UMLS:C0034627 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1279083 xref: UMLS:C1306504 xref: UMLS:C1846470 xref: UMLS:C1849352 xref: UMLS:C1865127 is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius [Term] id: HP:0002985 name: Short fibulae namespace: medical_genetics alt_id: HP:0006401 synonym: "Fibulae, relatively short" EXACT [] synonym: "Short fibula" EXACT [] xref: UMLS:C0016068 xref: UMLS:C0080103 xref: UMLS:C0205345 xref: UMLS:C1547039 xref: UMLS:C1806781 xref: UMLS:C1832119 xref: UMLS:C1833880 xref: UMLS:C2350002 is_a: HP:0003038 ! Fibular hypoplasia [Term] id: HP:0002986 name: Radial bowing namespace: medical_genetics synonym: "Bowed radii" EXACT [] synonym: "Bowed radius" EXACT [] xref: UMLS:C0034627 xref: UMLS:C0544755 xref: UMLS:C1279083 xref: UMLS:C1306504 xref: UMLS:C1865846 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003956 ! Bowed forearm bones [Term] id: HP:0002987 name: Elbow contractures namespace: medical_genetics alt_id: HP:0003937 alt_id: HP:0004984 synonym: "Contractures of elbows" EXACT [] synonym: "Contractures of the elbows" EXACT [] synonym: "Elbow contracture" EXACT [] synonym: "Elbow contractures, mild" EXACT [] synonym: "Elbow flexion contracture" EXACT [] synonym: "Elbow flexion contractures" EXACT [] synonym: "Elbow flexion deformity" EXACT [] xref: UMLS:C0009917 xref: UMLS:C0013769 xref: UMLS:C0409338 xref: UMLS:C0547040 xref: UMLS:C1833142 xref: UMLS:C1861314 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 namespace: medical_genetics alt_id: HP:0006373 def: "Absence of the fibula." [HPO:curators] synonym: "Absent fibulae" EXACT [] synonym: "Absent-hypoplastic fibulae" EXACT [] xref: UMLS:C1836186 xref: UMLS:C1845808 xref: UMLS:C1862435 is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula [Term] id: HP:0002991 name: Abnormality of the fibula namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0016068 xref: UMLS:C1281580 xref: UMLS:C1704258 is_a: HP:0002981 ! Abnormality of the calf [Term] id: HP:0002992 name: Abnormality of the tibia namespace: medical_genetics def: "Abnormality of the tibia (shinbone)." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0040184 xref: UMLS:C1279118 xref: UMLS:C1704258 is_a: HP:0002981 ! Abnormality of the calf [Term] id: HP:0002993 name: Short tibia namespace: medical_genetics synonym: "Short tibiae" EXACT [] xref: UMLS:C1850259 xref: UMLS:C1860108 is_a: HP:0002992 ! Abnormality of the tibia [Term] id: HP:0002995 name: Short radius namespace: medical_genetics synonym: "Short radii" EXACT [] xref: UMLS:C1401779 is_a: HP:0002984 ! Hypoplasia of the radius is_a: HP:0009821 ! Hypoplasia involving forearm bones [Term] id: HP:0002996 name: Limited elbow movement namespace: medical_genetics alt_id: HP:0006395 synonym: "Decreased elbow mobility" EXACT [] synonym: "Limited elbow mobility" EXACT [] synonym: "Restricted elbow motion" EXACT [] xref: UMLS:C1835454 xref: UMLS:C1846014 xref: UMLS:C1849955 xref: UMLS:C1857537 is_a: HP:0009811 ! Abnormality of the elbow is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002997 name: Abnormality of the ulna namespace: medical_genetics def: "Ab abnormality of the ulna bone of the forearm." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0041600 xref: UMLS:C1279087 xref: UMLS:C1704258 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0002999 name: Dislocation of patella namespace: medical_genetics 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:curators] synonym: "Dislocated patellae" EXACT [] synonym: "Patellar dislocation" EXACT [] xref: UMLS:C0012691 xref: UMLS:C0030647 xref: UMLS:C0998074 xref: UMLS:C1135812 xref: UMLS:C1279123 is_a: HP:0003045 ! Abnormality of the patella [Term] id: HP:0003001 name: Glomus jugular tumors namespace: medical_genetics synonym: "Glomus jugulare tumor" EXACT [] synonym: "Glomus jugulare tumors" EXACT [] xref: UMLS:C0017671 xref: UMLS:C1854342 is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0003002 name: Breast carcinoma namespace: medical_genetics def: "The presence of a `carcinoma` (MPATH:549) of the `breast` (FMA:9601)." [HPO:probinson] synonym: "Breast cancer" EXACT [] xref: UMLS:C0006142 xref: UMLS:C0678222 is_a: HP:0100013 ! Neoplasm of the breast [Term] id: HP:0003003 name: Colon cancer namespace: medical_genetics xref: UMLS:C0007102 xref: UMLS:C0699790 is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0100273 ! Neoplasia of the colon [Term] id: HP:0003005 name: Ganglioneuroma namespace: medical_genetics 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: UMLS:C0017075 is_a: HP:0004376 ! Neuroblastic tumors [Term] id: HP:0003006 name: Neuroblastoma namespace: medical_genetics 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:curators] xref: UMLS:C0027819 xref: UMLS:C0700095 is_a: HP:0004376 ! Neuroblastic tumors [Term] id: HP:0003008 name: Multiple tumors namespace: medical_genetics xref: UMLS:C0260037 is_a: HP:0002664 ! Neoplasia [Term] id: HP:0003009 name: Enhanced neurotoxicity of vincristine namespace: medical_genetics xref: UMLS:C0042679 xref: UMLS:C0235032 xref: UMLS:C1998732 xref: UMLS:C2349975 is_a: HP:0002664 ! Neoplasia [Term] id: HP:0003010 name: Prolonged bleeding time namespace: medical_genetics synonym: "Increased bleeding time" EXACT [] xref: UMLS:C0005729 xref: UMLS:C0205217 xref: UMLS:C0439590 xref: UMLS:C0442805 xref: UMLS:C1318440 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003011 name: Abnormality of musculature namespace: medical_genetics alt_id: HP:0003197 def: "Abnormality originating in one or more muscles." [HPO:curators] synonym: "Muscular abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0026845 xref: UMLS:C0442025 xref: UMLS:C1704258 xref: UMLS:C1995013 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0003013 name: 'Bulging' epiphyses namespace: medical_genetics xref: UMLS:C1833329 is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003014 name: Short humeri namespace: medical_genetics alt_id: HP:0003064 synonym: "Short humerus" EXACT [] synonym: "Short upper arms" EXACT [] xref: UMLS:C1832117 xref: UMLS:C1839824 is_a: HP:0005792 ! Humeral hypoplasia [Term] id: HP:0003015 name: Metaphyseal flaring namespace: medical_genetics alt_id: HP:0003047 alt_id: HP:0005095 def: "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:curators] synonym: "marked metaphyseal flaring of long bones" EXACT [] synonym: "Metaphyseal flaring of long bones" EXACT [] synonym: "Metaphyseal splaying" EXACT [] xref: UMLS:C0222647 xref: UMLS:C0522501 xref: UMLS:C1282773 xref: UMLS:C1706089 xref: UMLS:C1846802 xref: UMLS:C1859139 is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0003016 name: Metaphyseal widening namespace: medical_genetics alt_id: HP:0005074 def: "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators] synonym: "Wide metaphyses" EXACT [] synonym: "Widened long bone metaphyses" EXACT [] synonym: "Widened metaphyses" EXACT [] xref: UMLS:C1846158 xref: UMLS:C1848447 xref: UMLS:C1849039 xref: UMLS:C1855248 is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003017 name: Frayed, irregular metaphyses namespace: medical_genetics synonym: "Frayed, irregular, metaphyses" EXACT [] xref: UMLS:C0205271 xref: UMLS:C0222671 xref: UMLS:C1846448 xref: UMLS:C1880852 is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0003019 name: Abnormality of the wrist namespace: medical_genetics alt_id: HP:0001224 def: "Abnormalitly of the wrist, the structure connecting the hand and the forearm." [HPO:curators] synonym: "Abnormalities of the wrists" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0043262 xref: UMLS:C1283836 xref: UMLS:C1322271 xref: UMLS:C1704258 is_a: HP:0009810 ! Abnormality of the joints of the upper limbs [Term] id: HP:0003020 name: Enlargement of the wrists namespace: medical_genetics xref: UMLS:C0020564 xref: UMLS:C0043262 xref: UMLS:C1293134 is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003021 name: Metaphyseal cupping namespace: medical_genetics def: "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:curators] xref: UMLS:C1837082 is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003022 name: Hypoplasia of the ulna namespace: medical_genetics alt_id: HP:0002998 alt_id: HP:0005842 alt_id: HP:0006444 def: "Underdevelopment of the `ulna` (FMA:23466)." [HPO:curators] synonym: "Hypoplasia of the ulna" EXACT [] synonym: "Hypoplastic ulna" EXACT [] synonym: "Short ulna" EXACT [] synonym: "Short ulnae" EXACT [] synonym: "Ulnae, relatively short" EXACT [] synonym: "Ulnar hypoplasia" EXACT [] xref: UMLS:C0041600 xref: UMLS:C0080103 xref: UMLS:C0205345 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1279087 xref: UMLS:C1547039 xref: UMLS:C1806781 xref: UMLS:C1836185 xref: UMLS:C1846472 xref: UMLS:C1860614 xref: UMLS:C1862132 xref: UMLS:C2350002 is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna is_a: HP:0009821 ! Hypoplasia involving forearm bones [Term] id: HP:0003023 name: Bowing of limbs due to multiple fractures namespace: medical_genetics def: "Curvature of the shafts of the long bones due to multiple fractures." [HPO:curators] synonym: "Bowed limbs due to multiple fractures" EXACT [] xref: UMLS:C0015385 xref: UMLS:C0016655 xref: UMLS:C0544755 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0003025 name: Irregular metaphyses namespace: medical_genetics synonym: "Metaphyseal irregularities" EXACT [] synonym: "Metaphyseal irregularity" EXACT [] xref: UMLS:C1846448 xref: UMLS:C1865199 is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003026 name: Short long bones namespace: medical_genetics alt_id: HP:0000949 alt_id: HP:0006457 synonym: "Long bone shortening" EXACT [] synonym: "Short tubular bones" EXACT [] synonym: "Short, tubular bones" EXACT [] synonym: "Short, tubular long bones" EXACT [] xref: UMLS:C0151747 xref: UMLS:C0205166 xref: UMLS:C0332208 xref: UMLS:C1706317 xref: UMLS:C1854912 xref: UMLS:C1854947 xref: UMLS:C1865033 is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0003027 name: Mesomelia namespace: medical_genetics 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:C0015385 xref: UMLS:C0332516 xref: UMLS:C0441636 xref: UMLS:C0549306 xref: UMLS:C1280090 xref: UMLS:C1806781 xref: UMLS:C1850047 xref: UMLS:C2350002 is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0003028 name: Abnormality of the ankles namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0003086 xref: UMLS:C1704258 is_a: HP:0100491 ! Abnormality of the joints of the lower limbs [Term] id: HP:0003029 name: Enlargement of the ankles namespace: medical_genetics xref: UMLS:C0003086 xref: UMLS:C0020564 xref: UMLS:C1293134 is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0003031 name: Ulnar bowing namespace: medical_genetics alt_id: HP:0003983 def: "Bending of the diaphysis (shaft) of the ulna, usually in the convex posterior direction." [HPO:curators] synonym: "Bowed ulna" EXACT [] synonym: "Curved ulna" EXACT [] xref: UMLS:C0041600 xref: UMLS:C0205134 xref: UMLS:C0544755 xref: UMLS:C1279087 xref: UMLS:C1865847 is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003956 ! Bowed forearm bones [Term] id: HP:0003032 name: Short femoral neck namespace: medical_genetics 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:curators] synonym: "Short femoral necks" EXACT [] synonym: "Short, hypoplastic femoral necks" EXACT [] xref: UMLS:C0543481 xref: UMLS:C1836184 xref: UMLS:C1859367 is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0003033 name: Mild joint stiffness namespace: medical_genetics def: "The presence of a mild degree of joint stiffness." [HPO:curators] comment: This term may be made obsolete in the future. The mild degree can be indicated in the annotation file. xref: UMLS:C1854825 is_a: HP:0001387 ! Joint stiffness [Term] id: HP:0003034 name: Diaphyseal sclerosis namespace: medical_genetics xref: UMLS:C0011989 is_a: HP:0000940 ! Abnormality of the diaphyses is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0003037 name: Enlarged joints namespace: medical_genetics xref: UMLS:C1859111 is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0003038 name: Fibular hypoplasia namespace: medical_genetics alt_id: HP:0005887 def: "Underdevelopment of the fibula." [HPO:curators] synonym: "Hypoplastic fibula" EXACT [] xref: UMLS:C1837833 xref: UMLS:C1859767 is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula [Term] id: HP:0003039 name: Small, irregular epiphyses namespace: medical_genetics synonym: "Irregular, small epiphyses" EXACT [] xref: UMLS:C0205271 xref: UMLS:C0700321 xref: UMLS:C1846449 xref: UMLS:C1846803 is_a: HP:0010582 ! Irregular epiphyses is_a: HP:0010585 ! Small epiphyses [Term] id: HP:0003040 name: Arthropathy namespace: medical_genetics xref: UMLS:C0022408 is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0003041 name: Radiohumeral synostosis namespace: medical_genetics def: "An abnormal osseous union (fusion) between the radius and the humerus." [HPO:curators] synonym: "Radiohumeral synostosis of elbow" EXACT [] synonym: "Synostosis of radius and humerus" EXACT [] xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C0020164 xref: UMLS:C0034627 xref: UMLS:C0039093 xref: UMLS:C0391889 xref: UMLS:C1279075 xref: UMLS:C1279083 xref: UMLS:C1305417 xref: UMLS:C1306504 xref: UMLS:C1368355 xref: UMLS:C1859758 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0009811 ! Abnormality of the elbow is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0003042 name: Elbow dislocation namespace: medical_genetics def: "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators] synonym: "Dislocations of the elbows" EXACT [] synonym: "Elbow dislocations" EXACT [] xref: UMLS:C0012691 xref: UMLS:C0013769 xref: UMLS:C0149977 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003043 name: Abnormality of the shoulder namespace: medical_genetics def: "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0037004 xref: UMLS:C1283792 xref: UMLS:C1704258 is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0009810 ! Abnormality of the joints of the upper limbs [Term] id: HP:0003044 name: Shoulder contractures namespace: medical_genetics xref: UMLS:C1848475 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 namespace: medical_genetics def: "Abnormality of the patella (knee cap)." [HPO:curators] synonym: "Patellar abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0030647 xref: UMLS:C0998074 xref: UMLS:C1279123 xref: UMLS:C1704258 is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0003048 name: Radial head subluxation namespace: medical_genetics def: "Partial dislocation of the head of the radius." [HPO:curators] synonym: "Radial subluxation" EXACT [] synonym: "Radial-head subluxation" EXACT [] xref: UMLS:C0149977 xref: UMLS:C1840308 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0003049 name: Ulnar deviation of the wrist namespace: medical_genetics synonym: "Ulnar deviation of wrists" EXACT [] xref: UMLS:C0043262 xref: UMLS:C0449752 xref: UMLS:C1283836 xref: UMLS:C1322271 is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003051 name: Enlarged metaphyses namespace: medical_genetics xref: UMLS:C1855544 is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003052 name: Genu varus namespace: medical_genetics xref: UMLS:C0544755 is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0003053 name: Epiphyseal deformities of tubular bones namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0151747 xref: UMLS:C0262950 xref: UMLS:C0302142 xref: UMLS:C0332208 xref: UMLS:C1266909 xref: UMLS:C1527361 is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0003054 name: Short, bowed limbs namespace: medical_genetics xref: UMLS:C0239399 xref: UMLS:C0544755 is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0003057 name: Tetraamelia namespace: medical_genetics def: "`Amelia` (HP:0009827) of all four limbs." [HPO:sdoelken] synonym: "Tetra-amelia" EXACT [HPO:sdoelken] xref: UMLS:C1848875 is_a: HP:0009827 ! Amelia [Term] id: HP:0003059 name: Abnormality of the radioulnar joints namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0450209 xref: UMLS:C1456420 xref: UMLS:C1704258 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003060 name: Thin, gracile long bones namespace: medical_genetics synonym: "Long bones slender" EXACT [] synonym: "Slender, gracile long tubular bones" EXACT [] synonym: "Thin gracile long bones" EXACT [] xref: UMLS:C0151747 xref: UMLS:C0222647 xref: UMLS:C0332208 xref: UMLS:C1282773 xref: UMLS:C1856235 xref: UMLS:C1865129 is_a: HP:0003061 ! Gracile long bones [Term] id: HP:0003061 name: Gracile long bones namespace: medical_genetics xref: UMLS:C1865129 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0003063 name: Abnormality of the humerus namespace: medical_genetics alt_id: HP:0002988 def: "An abnormality of the humerus (i.e., upper arm bone)." [HPO:curators] synonym: "Abnormality of the humeri" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0020164 xref: UMLS:C1279075 xref: UMLS:C1704258 is_a: HP:0001454 ! Abnormality of the upper arm [Term] id: HP:0003065 name: Patellar hypoplasia namespace: medical_genetics alt_id: HP:0005020 def: "Underdevelopment of the patella." [HPO:curators] synonym: "Hypoplastic patellae" EXACT [] xref: UMLS:C1840068 xref: UMLS:C1868579 is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella [Term] id: HP:0003066 name: Limited knee extension namespace: medical_genetics xref: UMLS:C1844690 is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0003067 name: Madelung deformity namespace: medical_genetics synonym: "Madelung wrist deformity" EXACT [] xref: UMLS:C0043262 xref: UMLS:C0152441 xref: UMLS:C0740335 xref: UMLS:C1283836 xref: UMLS:C1322271 is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003068 name: Madelung-like forearm deformities namespace: medical_genetics xref: UMLS:C0041784 is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003070 name: Elbow ankylosis namespace: medical_genetics xref: UMLS:C0856459 is_a: HP:0001376 ! Decreased mobility of joints is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003071 name: Flattened epiphyses namespace: medical_genetics xref: UMLS:C1857527 is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0003072 name: Hypercalcemia namespace: medical_genetics def: "An abnormally increased `calcium` (CHEBI:29108) concentration in the blood." [HPO:curators] synonym: "Hypercalcaemia" EXACT [] xref: UMLS:C0020437 is_a: HP:0003111 ! Abnormality of ion homeostasis is_a: HP:0004363 ! Abnormality of calcium homeostasis [Term] id: HP:0003073 name: Hypoalbuminemia namespace: medical_genetics def: "Reduction in the concentration of `albumin` (PR:000003918) in the `blood` (FMA:9670)." [HPO:probinson] synonym: "Hypoalbuminaemia" EXACT [] xref: UMLS:C0239981 is_a: HP:0010876 ! Abnormality of circulating protein level [Term] id: HP:0003074 name: Hyperglycemia namespace: medical_genetics def: "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C0020456 is_a: HP:0011015 ! Abnormality of blood glucose concentration [Term] id: HP:0003075 name: Hypoproteinemia namespace: medical_genetics def: "A `decreased concentration` (PATO:0001163) of `protein` (CHEBI:36080) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C0020639 is_a: HP:0010876 ! Abnormality of circulating protein level [Term] id: HP:0003076 name: Glycosuria namespace: medical_genetics alt_id: HP:0003122 def: "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `urine` (FMA:12274)." [HPO:gcarletti] comment: Glycosuria, the excretion of abnormal amounts of glucose in the urine, generally results in osmotic diuresis. synonym: "Glucosuria" EXACT [] xref: UMLS:C0017979 is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0011016 ! Abnormality of urine glucose concentration [Term] id: HP:0003077 name: Hyperlipidemia namespace: medical_genetics def: "An elevated `lipid` (CHEBI:18059) concentration in the `blood` (FMA:9670)." [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: UMLS:C0020473 is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0003079 name: Defective DNA repair after ultraviolet radiation damage namespace: medical_genetics xref: UMLS:C0010957 xref: UMLS:C0012899 xref: UMLS:C0041625 xref: UMLS:C0332452 xref: UMLS:C1883709 is_a: HP:0003254 ! Abnormality of DNA repair [Term] id: HP:0003080 name: Hydroxyprolinuria namespace: medical_genetics def: "An increased concentration of `4-hydroxy-L-proline` (CHEBI:18240) the `urine` (FMA:12274)." [HPO:gcarletti] synonym: "Elevated urinary hydroxyproline" EXACT [] xref: UMLS:C0948585 xref: UMLS:C1865911 is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010907 ! Abnormality of proline metabolism [Term] id: HP:0003081 name: Increased urinary potassium namespace: medical_genetics xref: UMLS:C1846351 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003083 name: Dislocated radial head namespace: medical_genetics alt_id: HP:0002975 def: "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators] 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:C0012691 xref: UMLS:C0223696 xref: UMLS:C0332768 xref: UMLS:C0434609 xref: UMLS:C1833143 xref: UMLS:C1969182 is_a: HP:0003042 ! Elbow dislocation is_a: HP:0003995 ! Abnormality of the radial head [Term] id: HP:0003084 name: Fractures of the long bones namespace: medical_genetics 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 [] xref: UMLS:C0016658 xref: UMLS:C0222647 xref: UMLS:C1282773 xref: UMLS:C1851408 xref: UMLS:C1880851 is_a: HP:0002757 ! Recurrent fractures [Term] id: HP:0003085 name: Disproportionately long fibulae namespace: medical_genetics synonym: "Disproportionately long fibula" EXACT [] xref: UMLS:C1848109 is_a: HP:0002991 ! Abnormality of the fibula [Term] id: HP:0003086 name: Acromesomelia namespace: medical_genetics xref: UMLS:C1864365 is_a: HP:0003027 ! Mesomelia [Term] id: HP:0003088 name: Premature osteoarthritis namespace: medical_genetics synonym: "Premature arthritis" EXACT [] xref: UMLS:C1835121 xref: UMLS:C1859110 is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0003089 name: Hamstring contractures namespace: medical_genetics xref: UMLS:C0410266 is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0003090 name: Hypoplasia of the capital femoral epiphysis namespace: medical_genetics alt_id: HP:0003374 def: "Underdevelopment of the `proximal epiphysis of the femur` (FMA:32841)." [HPO:probinson] synonym: "Small femoral capital epiphyses" EXACT [] synonym: "Small proximal femoral epiphyses" EXACT [] xref: UMLS:C0006909 xref: UMLS:C0015811 xref: UMLS:C1839254 xref: UMLS:C1846803 xref: UMLS:C1846846 is_a: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis [Term] id: HP:0003091 name: Trophic limb changes namespace: medical_genetics def: "`Trophic changes` (HP:0010834) occuring in a limb." [HPO:probinson] xref: UMLS:C0015385 xref: UMLS:C0028707 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C0518896 xref: UMLS:C0600072 xref: UMLS:C1280090 xref: UMLS:C1442959 xref: UMLS:C1705241 is_a: HP:0010834 ! Trophic changes related to pain [Term] id: HP:0003093 name: Limited elbow and hip extension namespace: medical_genetics xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C0439801 xref: UMLS:C1305417 xref: UMLS:C2030993 is_a: HP:0002996 ! Limited elbow movement is_a: HP:0008800 ! Limited hip movement is_a: HP:0100491 ! Abnormality of the joints of the lower limbs [Term] id: HP:0003095 name: Septic arthritis namespace: medical_genetics xref: UMLS:C0003874 xref: UMLS:C1692886 is_a: HP:0001369 ! Arthritis [Term] id: HP:0003096 name: Slender long bones namespace: medical_genetics xref: UMLS:C1833144 is_a: HP:0003061 ! Gracile long bones [Term] id: HP:0003097 name: Short femur namespace: medical_genetics def: "An abnormal shortening of the thigh bones." [HPO:curators] synonym: "Short femurs" EXACT [] xref: UMLS:C1397248 is_a: HP:0005613 ! Aplasia/hypoplasia of the femur [Term] id: HP:0003098 name: Minor hand anomalies namespace: medical_genetics xref: UMLS:C0000769 xref: UMLS:C0018563 xref: UMLS:C0026193 xref: UMLS:C0205165 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0003099 name: Fibular overgrowth namespace: medical_genetics xref: UMLS:C1864298 is_a: HP:0002991 ! Abnormality of the fibula [Term] id: HP:0003100 name: Thin long bones namespace: medical_genetics xref: UMLS:C1865250 is_a: HP:0003061 ! Gracile long bones [Term] id: HP:0003101 name: Mild to moderate joint limitation namespace: medical_genetics xref: UMLS:C1857650 is_a: HP:0001376 ! Decreased mobility of joints [Term] id: HP:0003102 name: Increased carrying angle namespace: medical_genetics xref: UMLS:C0205143 xref: UMLS:C0205217 xref: UMLS:C0206243 xref: UMLS:C0442805 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0003103 name: Abnormality of cortical bone namespace: medical_genetics def: "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [HPO:sdoelken] xref: UMLS:C0000768 xref: UMLS:C0222652 xref: UMLS:C0222661 xref: UMLS:C0836920 xref: UMLS:C1704258 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0003105 name: Protuberances at ends of long bones namespace: medical_genetics xref: UMLS:C0222647 xref: UMLS:C0444930 xref: UMLS:C1282773 xref: UMLS:C1522314 xref: UMLS:C2339173 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0003106 name: Subperiosteal erosions due to secondary hyperparathyroidism namespace: medical_genetics xref: UMLS:C0020503 xref: UMLS:C0222651 xref: UMLS:C0333307 xref: UMLS:C1880549 xref: UMLS:C1959609 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0003107 name: Abnormality of cholesterol metabolism namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1156530 xref: UMLS:C1704258 is_a: HP:0003119 ! Abnormality of lipid metabolism created_by: peter creation_date: 2008-03-17T01:02:00Z [Term] id: HP:0003108 name: Hyperglycinuria namespace: medical_genetics alt_id: HP:0002931 def: "An increased concentration of `glycine` (CHEBI:15428 ) in the `urine` (FMA:12274)." [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:C0341706 xref: UMLS:C1853747 is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010895 ! Abnormality of glycine metabolism [Term] id: HP:0003109 name: Hyperphosphaturia namespace: medical_genetics alt_id: HP:0003266 def: "An increased excretion of phosphates in the urine." [HPO:curators] synonym: "Phosphaturia" EXACT [] xref: UMLS:C0268079 xref: UMLS:C0282201 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003110 name: Abnormality of urine homeostasis namespace: medical_genetics def: "An abnormality of the composition of urine or the levels of its components." [HPO:probinson] xref: UMLS:C0022877 xref: UMLS:C0749923 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003111 name: Abnormality of ion homeostasis namespace: medical_genetics alt_id: HP:0003253 def: "Abnormality of the homeostasis (concentration) of a `monoatomic ion` (CHEBI:24867)." [HPO:probinson] synonym: "Electrolyte disorders" EXACT [] xref: UMLS:C0151613 xref: UMLS:C0229671 xref: UMLS:C1550100 xref: UMLS:C1704431 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003112 name: Abnormality of serum amino acid levels namespace: medical_genetics def: "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0587180 xref: UMLS:C1287325 xref: UMLS:C1704258 is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0003113 name: Hypochloremia namespace: medical_genetics def: "An abnormally decreased `chloride` (CHEBI:17996) concentration in the blood." [HPO:probinson] xref: UMLS:C0085680 is_a: HP:0003111 ! Abnormality of ion homeostasis [Term] id: HP:0003114 name: Abnormal cardiological findings namespace: medical_genetics comment: Consider abnormality of the cardiovascular system, HP:0001626. xref: UMLS:C0007189 xref: UMLS:C0205161 xref: UMLS:C0243095 xref: UMLS:C1555719 xref: UMLS:C2347472 is_obsolete: true [Term] id: HP:0003115 name: Abnormal EKG namespace: medical_genetics xref: UMLS:C0522055 is_a: HP:0001665 ! Abnormality of cardiac conduction [Term] id: HP:0003116 name: Abnormal echocardiogram namespace: medical_genetics xref: UMLS:C0476369 is_a: HP:0001627 ! Abnormality of the heart [Term] id: HP:0003117 name: Abnormality of circulating hormone level namespace: medical_genetics def: "An `abnormal` (PATO:0000460) `concentration` (PATO:0000033) of a `hormone` (CHEBI:24621) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C0014137 xref: UMLS:C0438215 is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0003118 name: Increased serum cortisol namespace: medical_genetics xref: UMLS:C0241003 is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003119 name: Abnormality of lipid metabolism namespace: medical_genetics alt_id: HP:0003611 def: "An abnormality in the of `lipid` (CHEBI:18059) 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. xref: UMLS:C0000768 xref: UMLS:C0020476 xref: UMLS:C0598783 xref: UMLS:C1704258 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003121 name: Limb contractures namespace: medical_genetics xref: UMLS:C1969879 is_a: HP:0001371 ! Contractures [Term] id: HP:0003124 name: Hypercholesterolemia namespace: medical_genetics alt_id: HP:0008154 alt_id: HP:0008173 alt_id: HP:0008359 def: "An increased concentration of `cholesterol` (CHEBI:16113) in the `blood` (FMA:9670)." [HPO:gcarletti] synonym: "Elevated serum cholesterol" EXACT [] synonym: "Elevated total cholesterol" EXACT [] synonym: "Increased total cholesterol" EXACT [] synonym: "Mild elevation of cholesterol" EXACT [] xref: UMLS:C0008377 xref: UMLS:C0020443 xref: UMLS:C0201950 xref: UMLS:C0439775 xref: UMLS:C0547040 xref: UMLS:C0595929 xref: UMLS:C0702240 xref: UMLS:C0848569 xref: UMLS:C1445957 xref: UMLS:C1522133 xref: UMLS:C1839869 is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003125 name: Factor VIII deficiency namespace: medical_genetics xref: UMLS:C0019069 is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0003126 name: Low-molecular-weight proteinuria namespace: medical_genetics xref: UMLS:C1839606 is_a: HP:0000093 ! Proteinuria [Term] id: HP:0003127 name: Hypocalciuria namespace: medical_genetics def: "An abnormally decreased `calcium` (CHEBI:29108) concentration in the urine (FMA:12274)." [HPO:probinson] xref: UMLS:C0020599 is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0004363 ! Abnormality of calcium homeostasis [Term] id: HP:0003128 name: Lactic acidosis namespace: medical_genetics alt_id: HP:0003255 def: "An abnormal buildup of `lactic acid` (CHEBI:28358) in the body, leading to `acidification` (GO:0045851) 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 acidosis" EXACT [] synonym: "Lacticacidemia" EXACT [] synonym: "Lacticacidosis" EXACT [] xref: UMLS:C0001125 xref: UMLS:C0347959 xref: UMLS:C1855560 is_a: HP:0001941 ! Acidosis [Term] id: HP:0003129 name: Abnormal neurological laboratory findings namespace: medical_genetics xref: UMLS:C0205494 xref: UMLS:C0438215 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0003130 name: Abnormal myelination in sural nerve biopsies namespace: medical_genetics xref: UMLS:C0740403 xref: UMLS:C1857704 is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003131 name: Cystinuria namespace: medical_genetics def: "An increased concentration of `cystine` (CHEBI:17376) in the `urine` (FMA:12274)." [HPO:gcarletti] xref: UMLS:C0010691 is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0010918 ! Abnormality of cysteine metabolism [Term] id: HP:0003132 name: Neurofibrillary tangles composed of disordered microtubules in neurons namespace: medical_genetics xref: UMLS:C0012634 xref: UMLS:C0026046 xref: UMLS:C0027882 xref: UMLS:C0085400 is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003133 name: Abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and medulla namespace: medical_genetics xref: UMLS:C0007765 xref: UMLS:C0025148 xref: UMLS:C0034229 xref: UMLS:C0205161 xref: UMLS:C0458459 xref: UMLS:C0752211 xref: UMLS:C1268981 xref: UMLS:C1269575 xref: UMLS:C1305694 xref: UMLS:C2347472 is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003134 name: Abnormal motor and sensory nerve conduction namespace: medical_genetics synonym: "Sensory and motor nerve conduction abnormalities" EXACT [] xref: UMLS:C0027788 xref: UMLS:C0205161 xref: UMLS:C0232217 xref: UMLS:C0445254 xref: UMLS:C0457405 xref: UMLS:C0501385 xref: UMLS:C0886413 xref: UMLS:C1513492 xref: UMLS:C1705994 xref: UMLS:C1866772 xref: UMLS:C2347472 is_a: HP:0001333 ! Abnormality of the sensory nervous system is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003136 name: Decreased hemoglobin namespace: medical_genetics xref: UMLS:C0162119 is_a: HP:0001903 ! Anemia [Term] id: HP:0003137 name: Prolinuria namespace: medical_genetics def: "An increased concentration of `proline` (CHEBI:26271) in the `urine` (FMA:12274)." [HPO:probinson] comment: Normal urinary proline total (free and combined form) excretion is around 40 mg per 24 hours. xref: UMLS:C0268534 is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010907 ! Abnormality of proline metabolism [Term] id: HP:0003138 name: Increased blood urea nitrogen (BUN) namespace: medical_genetics def: "An increased amount of nitrogen in the form of `urea` (CHEBI:16199) in the `blood` (FMA:9670)." [HPO:gcarletti] synonym: "Increased blood urea nitrogen" EXACT [] xref: UMLS:C0151539 is_a: HP:0002157 ! Azotemia [Term] id: HP:0003139 name: Panhypogammaglobulinemia namespace: medical_genetics synonym: "Panypogammaglobulinemia" EXACT [] xref: UMLS:C1328587 xref: UMLS:C1849243 is_a: HP:0004315 ! Decreased IgG level [Term] id: HP:0003140 name: T-wave inversion in the right precordial leads and late potentials in signal-averaging ECG namespace: medical_genetics xref: UMLS:C0018064 xref: UMLS:C0059422 xref: UMLS:C0181586 xref: UMLS:C0205087 xref: UMLS:C0205090 xref: UMLS:C0230134 xref: UMLS:C0237399 xref: UMLS:C0520888 xref: UMLS:C1510992 xref: UMLS:C1623258 xref: UMLS:C1710082 is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0003141 name: Hyperbetalipoproteinemia namespace: medical_genetics alt_id: HP:0008343 def: "An increase in the amount of `low-density lipoprotein cholesterol` (CHEBI:47774) in the `blood` (FMA:9670)." [HPO:probinson] synonym: "Increased beta-lipoproteins" EXACT [] synonym: "Increased circulating low-density lipoprotein cholesterol" EXACT [] synonym: "Increased LDL cholesterol" EXACT [] xref: UMLS:C0023823 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C0549399 is_a: HP:0010980 ! Hyperlipoproteinemia [Term] id: HP:0003142 name: Excessive purine production namespace: medical_genetics xref: UMLS:C0033268 xref: UMLS:C0034140 xref: UMLS:C0220903 xref: UMLS:C0442802 is_a: HP:0004368 ! Increased purine levels [Term] id: HP:0003143 name: Liver transaminases normal to slightly increased namespace: medical_genetics def: "The presence of normal levels or of a mild elevation of the serum transaminases SGOT and SGPT." [HPO:curators] comment: This term may be made obsolete in the future. The degree of elevation can be indicated in the annotation file. xref: UMLS:C0002594 xref: UMLS:C0023884 xref: UMLS:C0205217 xref: UMLS:C0205307 xref: UMLS:C0439166 xref: UMLS:C0442805 xref: UMLS:C0750482 xref: UMLS:C0919834 xref: UMLS:C1278929 xref: UMLS:C2346688 xref: UMLS:C2347086 is_a: HP:0002910 ! Elevated transaminases [Term] id: HP:0003144 name: Increased serum serotonin namespace: medical_genetics def: "A `increased concentration` (PATO:0001162) of `serotonin` (CHEBI:28790) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C2209695 is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003145 name: Decreased adenosylcobalamin (ADOCBL) namespace: medical_genetics xref: UMLS:C0056039 xref: UMLS:C0205216 xref: UMLS:C0392756 is_a: HP:0004341 ! Abnormality of the vitamin B12 metabolism [Term] id: HP:0003146 name: Hypocholesterolemia namespace: medical_genetics def: "An decreased concentration of `cholesterol` (CHEBI:16113) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C0151718 is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003148 name: Elevated serum acid phosphatase namespace: medical_genetics comment: Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme. synonym: "Acid phosphatase elevated" EXACT [] xref: UMLS:C0001109 xref: UMLS:C0205250 xref: UMLS:C1839866 is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003149 name: Hyperuricosuria namespace: medical_genetics def: "An abnormally high level of `uric acid` (CHEBI:27226) in the `urine` (FMA:12274)." [HPO:probinson] xref: UMLS:C0948643 is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0004368 ! Increased purine levels [Term] id: HP:0003150 name: Glutaric aciduria namespace: medical_genetics def: "An increased concentration of `glutaric acid` (CHEBI:17859) in the `urine` (FMA:12274)." [HPO:gcarletti] synonym: "Glutaricaciduria" EXACT [] xref: UMLS:C0268594 xref: UMLS:C1856414 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0003151 name: Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination namespace: medical_genetics xref: UMLS:C0079319 xref: UMLS:C0234621 xref: UMLS:C0338474 is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003152 name: Increased serum 1,25-dihydroxyvitamin D3 namespace: medical_genetics xref: UMLS:C0205217 xref: UMLS:C0229671 xref: UMLS:C0442805 xref: UMLS:C0766510 xref: UMLS:C1550100 is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003153 name: Cystathioninuria namespace: medical_genetics def: "An elevated urinary concentration of `cystathionine` (CHEBI:17755)." [HPO:probinson] comment: Cystathionine can be directly interconverted to cysteine. Normal cystathione urinary values are under 150 micromole per gram creatinine. xref: UMLS:C0220993 is_a: HP:0003355 ! Aminoaciduria is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism [Term] id: HP:0003154 name: Elevated plasma ACTH namespace: medical_genetics synonym: "Increased plasma acth" EXACT [] xref: UMLS:C0032105 xref: UMLS:C0238597 xref: UMLS:C1846285 is_a: HP:0011043 ! Abnormality of circulating adrenocorticotropin level [Term] id: HP:0003155 name: Elevated alkaline phosphatase namespace: medical_genetics alt_id: HP:0002911 alt_id: HP:0003636 alt_id: HP:0008296 def: "Abnormally increased serum levels of `alkaline phosphatase activity` (GO:0004035)." [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:C0002059 xref: UMLS:C0036776 xref: UMLS:C0151849 xref: UMLS:C0205250 xref: UMLS:C0750857 xref: UMLS:C1299351 is_a: HP:0004379 ! Abnormality of alkaline phosphatase activity [Term] id: HP:0003156 name: Increased liver function tests namespace: medical_genetics alt_id: HP:0006567 comment: This term will be made obsolete once the annotations have been revised. synonym: "Elevated liver function tests" EXACT [] synonym: "Elevated liver function tests may occur" EXACT [] xref: UMLS:C0877359 xref: UMLS:C1709305 is_a: HP:0001411 ! Abnormal liver function tests [Term] id: HP:0003157 name: Progressive axonal neuropathy with demyelinization on electroneurography namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0270921 xref: UMLS:C0919612 is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003158 name: Hyposthenuria namespace: medical_genetics xref: UMLS:C0232831 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003159 name: Hyperoxaluria namespace: medical_genetics xref: UMLS:C0020500 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003160 name: Abnormal isoelectric focusing of serum transferrin namespace: medical_genetics synonym: "Abnormal isoelectric focusing of serum transferring" EXACT [] synonym: "Abnormal transferrin isoelectric focusing" EXACT [] xref: UMLS:C0022169 xref: UMLS:C0040679 xref: UMLS:C0205161 xref: UMLS:C0229671 xref: UMLS:C0428545 xref: UMLS:C1318186 xref: UMLS:C1442762 xref: UMLS:C1540850 xref: UMLS:C1550100 xref: UMLS:C2347472 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003161 name: 4-Hydroxyphenylpyruvic aciduria namespace: medical_genetics def: "Increased concentration of `(4-hydroxyphenyl)pyruvic acid` (CHEBI:15999) in the urine." [HPO:probinson] synonym: "Hydroxyphenylpyruvic aciduria" EXACT [] xref: UMLS:C0278026 is_a: HP:0010996 ! Abnormality of monocarboxylic acid metabolism [Term] id: HP:0003162 name: Fasting hypoglycemia namespace: medical_genetics xref: UMLS:C0271708 is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003163 name: Elevated urinary delta-aminolevulinic acid namespace: medical_genetics xref: UMLS:C1848702 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003164 name: Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency namespace: medical_genetics xref: UMLS:C0020663 xref: UMLS:C1720275 is_a: HP:0002443 ! Abnormality of the hypothalamus is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003165 name: Elevated serum parathyroid hormone (PTH) level namespace: medical_genetics 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:C0205250 xref: UMLS:C0428408 xref: UMLS:C0857973 xref: UMLS:C1864103 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 sulfite, thiosulfate, s-sulfocysteine, taurine, hypoxanthine, and xanthine namespace: medical_genetics xref: UMLS:C0020684 xref: UMLS:C0039350 xref: UMLS:C0039950 xref: UMLS:C0043314 xref: UMLS:C1441270 xref: UMLS:C1848957 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003167 name: Carnosinuria namespace: medical_genetics xref: UMLS:C0268632 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003168 name: Dibasicaminoaciduria namespace: medical_genetics is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003170 name: Abnormality of the acetabulum namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Acetabular abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000962 xref: UMLS:C1279100 xref: UMLS:C1704258 is_a: HP:0001384 ! Abnormality of the hip joint [Term] id: HP:0003171 name: Horizontal acetabular roof namespace: medical_genetics def: "The presence of a flat, horizontal acetabular roof. The roof of the acetabulum is normally curved." [HPO:curators] synonym: "Horizontal acetabulae" EXACT [] synonym: "Horizontal acetabular roofs" EXACT [] xref: UMLS:C1836867 xref: UMLS:C1849002 xref: UMLS:C1854943 is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003172 name: Abnormality of the pubic bones namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0034014 xref: UMLS:C1704258 is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0003173 name: Hypoplastic pubic bones namespace: medical_genetics synonym: "Hypoplastic pubic bone" EXACT [] synonym: "Hypoplastic pubis" EXACT [] xref: UMLS:C1850046 xref: UMLS:C1850296 xref: UMLS:C1865030 is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone [Term] id: HP:0003174 name: Abnormality of the ischial bones namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0022122 xref: UMLS:C0262950 xref: UMLS:C1266909 xref: UMLS:C1279099 xref: UMLS:C1704258 is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0003175 name: Hypoplastic ischia namespace: medical_genetics synonym: "Hypoplastic ischial bones" EXACT [] synonym: "Hypoplastic ischii" EXACT [] synonym: "Hypoplastic ischium" EXACT [] xref: UMLS:C1859447 xref: UMLS:C1860206 xref: UMLS:C1970817 is_a: HP:0003174 ! Abnormality of the ischial bones [Term] id: HP:0003177 name: Square iliac bones namespace: medical_genetics synonym: "Squaring of iliac bones" EXACT [] xref: UMLS:C0020889 xref: UMLS:C0205120 xref: UMLS:C0262950 xref: UMLS:C1266909 xref: UMLS:C1838186 is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0003178 name: Short and small iliac bones namespace: medical_genetics xref: UMLS:C1806781 xref: UMLS:C1832984 xref: UMLS:C2350002 is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0003179 name: Protrusio acetabuli namespace: medical_genetics def: "Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the heep joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head." [HPO:curators] synonym: "Protrusio acetabulae" EXACT [] xref: UMLS:C0409495 xref: UMLS:C1853166 is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003180 name: Flat acetabular roofs namespace: medical_genetics synonym: "Flat acetabular roof" EXACT [] synonym: "Flattened acetabular roof" EXACT [] xref: UMLS:C1837485 xref: UMLS:C1865029 is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003181 name: Small, flared iliac wings namespace: medical_genetics synonym: "Short, flared iliac wings" EXACT [] xref: UMLS:C1517205 xref: UMLS:C1836866 xref: UMLS:C1865027 is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0003182 name: Shallow acetabular fossae namespace: medical_genetics synonym: "Shallow acetabula" EXACT [] synonym: "Shallow acetabulae" EXACT [] synonym: "Shallow acetabular fossa" EXACT [] synonym: "Shallow acetabulum" EXACT [] xref: UMLS:C1854910 xref: UMLS:C1860796 is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003183 name: Wide pubic symphysis namespace: medical_genetics 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:curators] xref: UMLS:C1857190 is_a: HP:0003172 ! Abnormality of the pubic bones [Term] id: HP:0003184 name: Decreased hip abduction namespace: medical_genetics synonym: "Limited hip abduction" EXACT [] xref: UMLS:C1836589 xref: UMLS:C1866733 is_a: HP:0003272 ! Abnormality of the hip [Term] id: HP:0003185 name: Small sacroiliac notches namespace: medical_genetics synonym: "Shortened sacroiliac notches" EXACT [] xref: UMLS:C1861219 xref: UMLS:C1866689 is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0003186 name: Inverted nipples namespace: medical_genetics def: "The presence of nipples that instead of pointing outward are retracted inwards." [HPO:sdoelken] synonym: "Invaginated nipples" EXACT [HPO:curators] xref: UMLS:C0028109 xref: UMLS:C0221224 xref: UMLS:C0269269 is_a: HP:0004404 ! Abnormality of the nipple [Term] id: HP:0003187 name: Breast hypoplasia namespace: medical_genetics alt_id: HP:0000784 def: "Underdevelopment of the `breast` (FMA:9601)." [HPO:probinson] synonym: "Underdeveloped breasts" EXACT [] xref: UMLS:C0006141 xref: UMLS:C0266013 is_a: HP:0010311 ! Aplasia/Hypoplasia of the breasts [Term] id: HP:0003189 name: Long nose namespace: medical_genetics xref: UMLS:C1839798 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0003191 name: Notched nasal alae namespace: medical_genetics xref: UMLS:C1844537 is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0003192 name: Small, short nose namespace: medical_genetics xref: UMLS:C0426414 xref: UMLS:C0700321 xref: UMLS:C1806781 xref: UMLS:C1854114 xref: UMLS:C2350002 is_a: HP:0003196 ! Nasal hypoplasia [Term] id: HP:0003193 name: Allergic rhinitis namespace: medical_genetics xref: UMLS:C0002103 is_a: HP:0002257 ! Chronic rhinitis is_a: HP:0100326 ! Immunologic hypersensitivity [Term] id: HP:0003194 name: Short nasal bridge namespace: medical_genetics xref: UMLS:C1854689 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0003195 name: Small, upturned nose namespace: medical_genetics synonym: "Small upturned nose" EXACT [] xref: UMLS:C1855766 is_a: HP:0003196 ! Nasal hypoplasia [Term] id: HP:0003196 name: Nasal hypoplasia namespace: medical_genetics alt_id: HP:0000440 alt_id: HP:0000449 def: "Underdevelopment of the `nose` (FMA:46472)." [HPO:probinson] synonym: "Hypoplastic nose" EXACT [] synonym: "Short nose" EXACT [] synonym: "Small nose" EXACT [] xref: UMLS:C0426414 xref: UMLS:C1844856 xref: UMLS:C1854114 xref: UMLS:C1856777 is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose [Term] id: HP:0003198 name: Myopathy namespace: medical_genetics alt_id: HP:0003742 synonym: "Biopsy shows myopathic changes" EXACT [] xref: UMLS:C0005558 xref: UMLS:C0026848 xref: UMLS:C0220797 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C1547282 xref: UMLS:C1705241 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003199 name: Decreased muscle mass namespace: medical_genetics alt_id: HP:0003732 synonym: "Underdeveloped muscles" EXACT [] xref: UMLS:C1837108 xref: UMLS:C1837466 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003200 name: Ragged-red muscle fibers namespace: medical_genetics def: "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome (GT) staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged." [HPO:curators] synonym: "Muscle biopsy - ragged-red fibers" EXACT [] synonym: "Muscle biopsy shows ragged red fibers" EXACT [] synonym: "Muscle biopsy shows ragged-red fibers" EXACT [] synonym: "Ragged-red fibers on muscle biopsy" EXACT [] xref: UMLS:C0185283 xref: UMLS:C0282479 xref: UMLS:C0587033 xref: UMLS:C1414304 xref: UMLS:C1514805 xref: UMLS:C1536372 xref: UMLS:C1547282 is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003201 name: Rhabdomyolysis namespace: medical_genetics xref: UMLS:C0035410 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003202 name: Amyotrophy namespace: medical_genetics alt_id: HP:0001299 alt_id: HP:0003545 def: "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] synonym: "Muscle atrophy" EXACT [] synonym: "Muscle wasting" EXACT [] synonym: "Muscular atrophy" EXACT [] xref: UMLS:C0026846 is_a: HP:0000924 ! Abnormality of the musculoskeletal system is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003203 name: Negative nitroblue tetrazolium (NBT) reduction test namespace: medical_genetics 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` (GO:0016175) 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. xref: UMLS:C0205160 xref: UMLS:C0301630 xref: UMLS:C0392756 xref: UMLS:C0430303 xref: UMLS:C0441610 xref: UMLS:C1513916 is_a: HP:0001874 ! Abnormality of neutrophil [Term] id: HP:0003204 name: Intracellular accumulation of autofluorescent lipopigment storage material namespace: medical_genetics 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. xref: UMLS:C0175996 xref: UMLS:C0178719 xref: UMLS:C0337174 xref: UMLS:C0520510 xref: UMLS:C0544711 xref: UMLS:C0950695 xref: UMLS:C1698986 xref: UMLS:C1706693 xref: UMLS:C1753314 is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0003205 name: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material namespace: medical_genetics def: "An `intracellular accumulation of autofluorescent lipopigment storage material` (HP:0003204) in a `curved` (PATO:0000406) 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:C0002778 xref: UMLS:C0007634 xref: UMLS:C0041623 xref: UMLS:C0175996 xref: UMLS:C0178719 xref: UMLS:C0936012 xref: UMLS:C1524024 xref: UMLS:C1866287 xref: UMLS:C1979963 is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003206 name: Decreased activity of NADPH oxidase namespace: medical_genetics xref: UMLS:C0068355 xref: UMLS:C0086439 xref: UMLS:C1151146 is_a: HP:0004358 ! Abnormality of superoxide metabolism [Term] id: HP:0003207 name: Arterial calcification namespace: medical_genetics def: "Calcification affecting arteries." [HPO:curators] xref: UMLS:C1168153 is_a: HP:0002620 ! Systemic artery abnormality is_a: HP:0010766 ! Ectopic calcifications created_by: peter creation_date: 2008-03-26T04:05:00Z [Term] id: HP:0003208 name: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material namespace: medical_genetics def: "An `intracellular accumulation of autofluorescent lipopigment storage material` (HP:0003204) in a `trabecular` (PATO:0002121) or fingerprint-like pattern." [HPO:probinson] synonym: "'Fingerprint profiles' ultrastructurally in cells" EXACT [] synonym: "Fingerprint profiles ultrastructurally" EXACT [] xref: UMLS:C0007634 xref: UMLS:C1866288 is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003209 name: Decreased pyruvate carboxylase activity namespace: medical_genetics def: "A `decreased rate` (PATO:0000911) of `pyruvate carboxylase activity` (GO:0004736)." [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 [Term] id: HP:0003210 name: Decreased methylmalonyl-CoA mutase activity namespace: medical_genetics def: "An `abnormality of Krebs cycle metabolism` (HP:0000816) that is characterized by a `decreased rate` (PATO:0000911) of `methylmalonyl-CoA mutase activity` (GO:0004494)." [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 [] xref: UMLS:C0025789 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0439167 xref: UMLS:C0441655 xref: UMLS:C0600075 xref: UMLS:C1150382 xref: UMLS:C1417504 xref: UMLS:C1561536 is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism [Term] id: HP:0003212 name: Increased IgE level namespace: medical_genetics 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:C0020846 xref: UMLS:C0205250 xref: UMLS:C1299351 xref: UMLS:C1833179 xref: UMLS:C1839165 is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0003213 name: Deficient excision of UV-induced pyrimidine dimers in DNA namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0012854 xref: UMLS:C0034286 xref: UMLS:C0041625 xref: UMLS:C0205263 xref: UMLS:C0728940 xref: UMLS:C1636779 xref: UMLS:C1961129 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 namespace: medical_genetics xref: UMLS:C0007586 xref: UMLS:C0079396 xref: UMLS:C0439590 xref: UMLS:C1155839 is_a: HP:0011018 ! Abnormality of the cell cycle [Term] id: HP:0003215 name: Dicarboxylic aciduria namespace: medical_genetics def: "An increased concentration of `dicarboxylic acid` (CHEBI:35692) in the `urine` (FMA:12274)." [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 is_a: HP:0010995 ! Abnormality of dicarboxylic acid metabolism [Term] id: HP:0003216 name: Generalized amyloid deposition namespace: medical_genetics def: "A `diffuse` (PATO:0001513) form of `amyloidosis` (HP:0011034)." [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 is_a: HP:0011034 ! Amyloidosis [Term] id: HP:0003217 name: Hyperglutaminemia namespace: medical_genetics def: "An increased concentration of `glutamine` (CHEBI:28300) in the `blood` (FMA:9670)." [HPO:gcarletti, pmid:4696900] comment: Normal glutamine blood levels are around 550-600 micromole per liter. synonym: "High plasma glutamine" EXACT [] xref: UMLS:C1839533 is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010903 ! Abnormality of glutamine metabolism [Term] id: HP:0003218 name: Oroticaciduria namespace: medical_genetics def: "An increased concentration of `orotic acid` (CHEBI:16742) 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. xref: UMLS:C0268128 is_a: HP:0001941 ! Acidosis is_a: HP:0010928 ! Abnormality of orotic acid metabolism [Term] id: HP:0003219 name: Ethylmalonic aciduria namespace: medical_genetics def: "An increased concentration of `ethylmalonic acid` (CHEBI:741548) in the `urine` (FMA:12274)." [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 is_a: HP:0010995 ! Abnormality of dicarboxylic acid metabolism [Term] id: HP:0003220 name: Abnormality of chromosome stability namespace: medical_genetics 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:C0008633 xref: UMLS:C0024264 xref: UMLS:C0205212 xref: UMLS:C0333704 xref: UMLS:C0376628 xref: UMLS:C0439064 xref: UMLS:C1521828 xref: UMLS:C1859424 xref: UMLS:C1881704 xref: UMLS:C1998911 xref: UMLS:C2200256 is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0003221 name: Chromosomal breakage induced by crosslinking agents namespace: medical_genetics 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 [] xref: UMLS:C0002475 xref: UMLS:C0059541 xref: UMLS:C0205263 xref: UMLS:C0376628 xref: UMLS:C1446458 is_a: HP:0003220 ! Abnormality of chromosome stability [Term] id: HP:0003222 name: Low T4 namespace: medical_genetics xref: UMLS:C0205251 xref: UMLS:C1299352 xref: UMLS:C1550472 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0003223 name: Decreased methylcobalamin (MECBL) namespace: medical_genetics synonym: "Decreased methylcobalamin" EXACT [] synonym: "Methylcobalamin deficiency" EXACT [] xref: UMLS:C0011155 xref: UMLS:C0065844 xref: UMLS:C0162429 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C1623416 is_a: HP:0004341 ! Abnormality of the vitamin B12 metabolism [Term] id: HP:0003224 name: Increased cellular sensitivity to UV light namespace: medical_genetics xref: UMLS:C0007634 xref: UMLS:C0023693 xref: UMLS:C0041625 xref: UMLS:C0178539 xref: UMLS:C0392223 xref: UMLS:C1306462 xref: UMLS:C1881189 xref: UMLS:C1961129 xref: UMLS:C2346484 is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0003225 name: Factor V deficiency namespace: medical_genetics xref: UMLS:C0015499 xref: UMLS:C1414509 is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0003226 name: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material namespace: medical_genetics def: "An `intracellular accumulation of autofluorescent lipopigment storage material` (HP:0003204) in a `straight` (PATO:0002180) or rectilinear pattern." [HPO:probinson] synonym: "Rectilinear profiles ultrastructurally" EXACT [] xref: UMLS:C1850447 is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003228 name: Hypernatremia namespace: medical_genetics def: "An abnormally increased `sodium` (CHEBI:29101) concentration in the blood." [HPO:probinson] xref: UMLS:C0020488 xref: UMLS:C1522136 is_a: HP:0010931 ! Abnormality of sodium homeostasis [Term] id: HP:0003229 name: Prolonged whole-blood clotting time in severe hemophilia namespace: medical_genetics xref: UMLS:C0019069 xref: UMLS:C0205082 xref: UMLS:C0427610 xref: UMLS:C0439590 xref: UMLS:C0684275 xref: UMLS:C1318055 xref: UMLS:C1321589 xref: UMLS:C1519275 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003231 name: Hypertyrosinemia namespace: medical_genetics def: "An increased concentration of `tyrosine` (CHEBI:18186) in the blood." [HPO:probinson] comment: Defect in fumarylacetoacetase. synonym: "Tyrosinemia" EXACT [] xref: UMLS:C0268483 is_a: HP:0010917 ! Abnormality of tyrosine metabolism [Term] id: HP:0003232 name: Mitochondrial malic enzyme reduced namespace: medical_genetics xref: UMLS:C0026237 xref: UMLS:C0065558 xref: UMLS:C0392756 xref: UMLS:C0521451 xref: UMLS:C1151164 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003233 name: Decreased circulating high-density lipoprotein cholesterol namespace: medical_genetics def: "An decrease in the amount of `high-density lipoprotein cholesterol` (CHEBI:47775) in the `blood` (FMA:9670)." [HPO:gcarletti] synonym: "Decreased HDL cholesterol" EXACT [] synonym: "Low HDL-cholesterol" EXACT [] xref: UMLS:C0151691 is_a: HP:0010981 ! Hypolipoproteinemia [Term] id: HP:0003234 name: Decreased plasma carnitine namespace: medical_genetics def: "A decreased concentration of `carnitine` (CHEBI:17126) in the `blood` (FMA:9670)." [HPO:gcarletti] comment: Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria. xref: UMLS:C1860067 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0010967 ! Abnormality of carnitine metabolism [Term] id: HP:0003235 name: Hypermethioninemia namespace: medical_genetics def: "An increased concentration of `methionine` (CHEBI:16811) in the `blood` (FMA:9670)." [HPO:gcarletti] comment: Elevated blood methionine levels in the range of 500-2000 micromolar. synonym: "Methioninemia" EXACT [] xref: UMLS:C0268621 is_a: HP:0010901 ! Abnormality of methionine metabolism [Term] id: HP:0003236 name: Elevated serum creatine phosphokinase namespace: medical_genetics alt_id: HP:0002147 alt_id: HP:0002906 alt_id: HP:0003078 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:C0010287 xref: UMLS:C0151576 xref: UMLS:C0175630 xref: UMLS:C0205217 xref: UMLS:C0205250 xref: UMLS:C0205307 xref: UMLS:C0229671 xref: UMLS:C0241005 xref: UMLS:C0439166 xref: UMLS:C0442805 xref: UMLS:C0750860 xref: UMLS:C0853165 xref: UMLS:C1299351 xref: UMLS:C1550100 xref: UMLS:C1835870 xref: UMLS:C1835996 xref: UMLS:C1839664 xref: UMLS:C1846818 xref: UMLS:C2347086 is_a: HP:0011021 ! Abnormality of circulating enzyme level [Term] id: HP:0003237 name: Increased IgG level namespace: medical_genetics def: "An abnormally increased level of immunoglobulin G in blood." [HPO:probinson] synonym: "Increased levels of IgG" EXACT [] xref: UMLS:C0205217 xref: UMLS:C0441889 xref: UMLS:C0442805 xref: UMLS:C2188708 is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0003238 name: Hyperpepsinogenemia I namespace: medical_genetics xref: UMLS:C0021966 xref: UMLS:C0221138 is_a: HP:0010876 ! Abnormality of circulating protein level [Term] id: HP:0003239 name: Phosphoethanolaminuria namespace: medical_genetics def: "An increased concentration of ` phosphoethanolamine` (CHEBI:36711) in the `urine` (FMA:12274)." [HPO:probinson] xref: UMLS:C0268412 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003240 name: Increased phosphoribosylpyrophosphate (PRPP) synthetase namespace: medical_genetics xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C1829881 is_a: HP:0010932 ! Abnormality of nucleobase metabolism [Term] id: HP:0003241 name: Genital hypoplasia namespace: medical_genetics alt_id: HP:0000788 alt_id: HP:0003245 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:C1838627 xref: UMLS:C1855333 xref: UMLS:C1867445 is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0003244 name: Penile hypospadias namespace: medical_genetics def: "Location of the urethral opening on the inferior aspect of the penis." [HPO:curators] xref: UMLS:C1691215 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0003246 name: Prominent scrotal raphe namespace: medical_genetics synonym: "Prominent perineal raphe" EXACT [] xref: UMLS:C0205402 xref: UMLS:C0738472 xref: UMLS:C1852407 is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0003247 name: Overgrowth of external genitalia namespace: medical_genetics xref: UMLS:C0042993 xref: UMLS:C0227605 xref: UMLS:C1849265 is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0003248 name: Gonadal tissue inappropriate for external genitalia or chromosomal sex namespace: medical_genetics xref: UMLS:C0008633 xref: UMLS:C0018067 xref: UMLS:C0036864 xref: UMLS:C0040300 xref: UMLS:C0042993 xref: UMLS:C0227605 xref: UMLS:C1314687 xref: UMLS:C1522384 xref: UMLS:C1547928 xref: UMLS:C1548788 is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0003249 name: Genital ulcers namespace: medical_genetics xref: UMLS:C0151281 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0003250 name: Aplasia of the vagina namespace: medical_genetics alt_id: HP:0008709 def: "`Aplasia` (MPATH:58) of the `vagina` (FMA:19949)." [HPO:probinson] synonym: "Absent vagina" EXACT [] synonym: "Congenital absence of the vagina" EXACT [] xref: UMLS:C0042232 xref: UMLS:C0220763 xref: UMLS:C0332907 xref: UMLS:C1278985 xref: UMLS:C1998935 is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina [Term] id: HP:0003251 name: Male infertility namespace: medical_genetics xref: UMLS:C0021364 xref: UMLS:C2048463 is_a: HP:0000789 ! Infertility [Term] id: HP:0003252 name: Anteriorly displaced genitalia namespace: medical_genetics xref: UMLS:C0012727 xref: UMLS:C0017420 xref: UMLS:C0205094 is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0003254 name: Abnormality of DNA repair namespace: medical_genetics def: "An abnormality of the process of `DNA repair` (GO:0006281), that is, of the process of restoring DNA after damage." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0012899 xref: UMLS:C1704258 is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0003256 name: Abnormality of the coagulation cascade namespace: medical_genetics 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 [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0005779 xref: UMLS:C0005789 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003258 name: Glyoxalase deficiency namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0022956 xref: UMLS:C0162429 xref: UMLS:C1623416 is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis [Term] id: HP:0003259 name: Increased creatinine namespace: medical_genetics alt_id: HP:0003227 def: "An increased amount of `creatinine` (CHEBI:16737) in the `blood` (FMA:9670)." [HPO:gcarletti] synonym: "Elevated creatinine" EXACT [] synonym: "Elevated serum creatinine" EXACT [] synonym: "Increased serum creatinine" EXACT [] xref: UMLS:C0151578 xref: UMLS:C0700225 xref: UMLS:C1865878 is_a: HP:0002157 ! Azotemia [Term] id: HP:0003260 name: Hydroxyprolinemia namespace: medical_genetics def: "An increased concentration of `hydroxyproline` (CHEBI:18095) in the `blood` (FMA:9670)." [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 is_a: HP:0010907 ! Abnormality of proline metabolism [Term] id: HP:0003261 name: Increased IgA level namespace: medical_genetics 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:C0205217 xref: UMLS:C0239984 xref: UMLS:C0441889 xref: UMLS:C0442805 xref: UMLS:C1413238 xref: UMLS:C1833178 xref: UMLS:C1839166 xref: UMLS:C2229758 is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0003262 name: Smooth muscle antibody positivity namespace: medical_genetics 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 hepatatis, cirrhosis, and infectious mononucleosis. synonym: "Smooth muscle antibody positive" EXACT [] xref: UMLS:C0241185 is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0003264 name: Deficiency of N-acetylglucosamine-1-phosphotransferase namespace: medical_genetics comment: N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. xref: UMLS:C0001056 xref: UMLS:C0011155 xref: UMLS:C0031727 xref: UMLS:C0162429 xref: UMLS:C1623416 is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003265 name: Neonatal hyperbilirubinemia namespace: medical_genetics alt_id: HP:0008152 def: "A type of `hyperbilirubinemia` (HP:0002904) with `neonatal onset` (HP:0003623)." [HPO:probinson] synonym: "Hyperbilirubinemia, neonatal" EXACT [] xref: UMLS:C0020433 xref: UMLS:C0021289 xref: UMLS:C0311468 xref: UMLS:C0857007 xref: UMLS:C1552240 xref: UMLS:C1552264 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0003267 name: Reduced orotidine 5-prime phosphate decarboxylase activity namespace: medical_genetics def: "An abnormal decrease in `orotidine 5'-phosphate decarboxylase activity` (GO:0004590)." [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 [] xref: UMLS:C0029303 xref: UMLS:C1457869 xref: UMLS:C1861101 is_a: HP:0004353 ! Abnormality of pyrimidine metabolism [Term] id: HP:0003268 name: Argininuria namespace: medical_genetics def: "A increased concentration of `arginine` (CHEBI:29016) in the `urine` (FMA:12274)." [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 [Term] id: HP:0003269 name: Sudanophilic leukodystrophy namespace: medical_genetics xref: UMLS:C0007795 xref: UMLS:C0205711 is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003270 name: Abdominal distention namespace: medical_genetics alt_id: HP:0001542 alt_id: HP:0003364 def: "`Distention` (PATO:0001602) of the `abdomen` (FMA:9577)." [HPO:probinson] comment: Abdominal distention can be a secondary feature associated with a number of conditions such as bowel obstruction. synonym: "Abdominal distension" EXACT [] synonym: "Abdominal swelling" EXACT [] synonym: "Distended abdomen" EXACT [] xref: UMLS:C0000731 xref: UMLS:C0000734 is_a: HP:0001438 ! Abnormality of the abdomen [Term] id: HP:0003271 name: Visceromegaly namespace: medical_genetics def: "Abnormal `increased size` (PATO:0000586) of the `viscera of the abdomen` (FMA:259123)." [HPO:probinson] comment: Visceromegaly is enlargement of the internal organs in the abdomen, including liver, spleen, stomach, kidneys, or pancreas. xref: UMLS:C0042782 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0003272 name: Abnormality of the hip namespace: medical_genetics def: "An abnormality of the `hip` (FMA:24964)." [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 [] xref: UMLS:C0000768 xref: UMLS:C0019552 xref: UMLS:C0022122 xref: UMLS:C1704258 is_a: HP:0002644 ! Abnormality of the pelvis is_a: HP:0100491 ! Abnormality of the joints of the lower limbs [Term] id: HP:0003273 name: Hip contractures namespace: medical_genetics synonym: "Flexion contracture of hips" EXACT [] synonym: "Flexion contractures of hips" EXACT [] synonym: "Hip contracture" EXACT [] synonym: "Hip flexion contractures" EXACT [] xref: UMLS:C0019552 xref: UMLS:C0019553 xref: UMLS:C0333068 xref: UMLS:C0409354 is_a: HP:0003272 ! Abnormality of the hip is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0003274 name: Hypoplastic acetabulae namespace: medical_genetics synonym: "Acetabular hypoplasia" EXACT [] synonym: "Hypoplastic acetabula" EXACT [] xref: UMLS:C0000962 xref: UMLS:C0543481 xref: UMLS:C1846442 xref: UMLS:C1854770 is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003275 name: Narrow pelvis namespace: medical_genetics xref: UMLS:C1848103 is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0003276 name: Pelvic exostoses namespace: medical_genetics xref: UMLS:C1844689 is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0003277 name: Constricted iliac wings namespace: medical_genetics xref: UMLS:C1854785 is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0003278 name: Small, squared off pelvis namespace: medical_genetics xref: UMLS:C0030797 xref: UMLS:C0205120 xref: UMLS:C0700321 xref: UMLS:C1279864 is_a: HP:0003373 ! Small pelvis [Term] id: HP:0003279 name: Coxa magna namespace: medical_genetics 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 is_a: HP:0003272 ! Abnormality of the hip [Term] id: HP:0003281 name: Increased serum ferritin namespace: medical_genetics synonym: "Elevated serum ferritin" EXACT [] synonym: "Increased ferritin" EXACT [] synonym: "Increased serum ferritin level" EXACT [] xref: UMLS:C0205250 xref: UMLS:C0241013 xref: UMLS:C0696113 xref: UMLS:C0743912 xref: UMLS:C1849423 is_a: HP:0011031 ! Abnormality of iron homeostasis [Term] id: HP:0003282 name: Low alkaline phosphatase namespace: medical_genetics def: "Abnormally reduced serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] synonym: "Decreased serum alkaline phosphatase" EXACT [] xref: UMLS:C1855813 xref: UMLS:C1860130 is_a: HP:0004379 ! Abnormality of alkaline phosphatase activity [Term] id: HP:0003283 name: Absent enteric ganglia along a variable length of intestine namespace: medical_genetics xref: UMLS:C0021853 xref: UMLS:C0332197 xref: UMLS:C0439828 xref: UMLS:C0501399 xref: UMLS:C1444754 xref: UMLS:C1705098 xref: UMLS:C1706316 is_a: HP:0004362 ! Abnormality of the enteric ganglia [Term] id: HP:0003284 name: Occasional hypomagnesemia namespace: medical_genetics xref: UMLS:C1866499 is_a: HP:0002917 ! Hypomagnesemia [Term] id: HP:0003286 name: Cystathioninemia namespace: medical_genetics def: "An increased concentration of `cystathionine` (CHEBI:17755) in the `blood` (FMA:9670)." [HPO:gcarletti, pmid:16902722] comment: Cystathionine can be directly interconverted to cysteine. Cystathionine is not normally detectable in plasma. xref: UMLS:C0268618 is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism [Term] id: HP:0003287 name: Abnormality of mitochondrial metabolism namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0025519 xref: UMLS:C0025520 xref: UMLS:C0026237 xref: UMLS:C0521451 xref: UMLS:C1704258 is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0003288 name: Mitochondrial propionyl-CoA carboxylase (PCC) defect namespace: medical_genetics xref: UMLS:C0026237 xref: UMLS:C0072189 xref: UMLS:C0521451 xref: UMLS:C1123015 xref: UMLS:C1457869 xref: UMLS:C1861101 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003292 name: Decreased serum leptin namespace: medical_genetics def: "A `decreased concentration` (PATO:0001163) of `leptin` (PRO:000009758) in the `blood` (FMA:9670)." [HPO:probinson, pmid:16932309] comment: Leptin is an adipocyte-secreted hormone with a key role in energy homeostasis. xref: UMLS:C1837802 is_a: HP:0004361 ! Abnormality of circulating leptin level [Term] id: HP:0003293 name: Elevated liver enzymes namespace: medical_genetics alt_id: HP:0008267 comment: This term should be made more specific. It may be made obsolete in the future. synonym: "Abnormal liver enzymes" EXACT [] synonym: "Increased liver enzymes" EXACT [] xref: UMLS:C0205161 xref: UMLS:C0235996 xref: UMLS:C0428321 xref: UMLS:C0443764 xref: UMLS:C1287351 xref: UMLS:C1860080 xref: UMLS:C2347472 is_a: HP:0001411 ! Abnormal liver function tests [Term] id: HP:0003294 name: Markedly reduced IgG levels namespace: medical_genetics xref: UMLS:C1843529 is_a: HP:0004315 ! Decreased IgG level [Term] id: HP:0003295 name: Impaired FSH and LH secretion namespace: medical_genetics xref: UMLS:C0036536 xref: UMLS:C0036537 xref: UMLS:C0221099 xref: UMLS:C0684336 xref: UMLS:C1538681 is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003296 name: Hyperthreoninuria namespace: medical_genetics def: "An increased concentration of `threonine` (CHEBI:26986) in the `urine` (FMA:12274)." [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 [Term] id: HP:0003297 name: Hyperlysinuria namespace: medical_genetics alt_id: HP:0002158 def: "An increased concentration of `lysine` (CHEBI:25094) 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 [Term] id: HP:0003298 name: Spina bifida occulta namespace: medical_genetics def: "The closed form of spina bifida." [HPO:curators] xref: UMLS:C0080174 is_a: HP:0010301 ! Spinal dysraphism [Term] id: HP:0003300 name: Ovoid vertebral bodies namespace: medical_genetics synonym: "Oval vertebral bodies" EXACT [] synonym: "Ovoid vertebrae" EXACT [] synonym: "Ovoid-shaped vertebral bodies" EXACT [] xref: UMLS:C0223084 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1709367 xref: UMLS:C1836864 xref: UMLS:C1855665 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0003301 name: Irregular vertebral endplates namespace: medical_genetics alt_id: HP:0003420 def: "An irregular surface of the vertebral end plates, which are normally relatively smooth." [HPO:curators] 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:C1834974 xref: UMLS:C1836587 xref: UMLS:C1836684 xref: UMLS:C1850195 xref: UMLS:C1856905 xref: UMLS:C1863735 xref: UMLS:C1864292 xref: UMLS:C1865026 is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0003302 name: Spondylolisthesis namespace: medical_genetics synonym: "Spondylolithesis" EXACT [] xref: UMLS:C0038016 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003304 name: Spondylolysis namespace: medical_genetics xref: UMLS:C0038018 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003305 name: Block vertebrae namespace: medical_genetics xref: UMLS:C1844753 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0003306 name: Spinal rigidity namespace: medical_genetics synonym: "Rigid spine" EXACT [] xref: UMLS:C1858025 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003307 name: Hyperlordosis namespace: medical_genetics xref: UMLS:C1846834 is_a: HP:0002939 ! Lordosis [Term] id: HP:0003308 name: Cervical subluxation namespace: medical_genetics def: "A `partial dislocation` (PATO:0002157) of one or more intervertebral joints in the `cervical vertebral column` (FMA:24138)." [HPO:probinson] xref: UMLS:C1846798 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0003309 name: Ovoid thoracolumbar vertebrae namespace: medical_genetics synonym: "Ovoid thoracic and lumbar vertebrae" EXACT [] xref: UMLS:C0024091 xref: UMLS:C0332492 xref: UMLS:C1854824 is_a: HP:0003300 ! Ovoid vertebral bodies [Term] id: HP:0003310 name: Abnormality of the odontoid process namespace: medical_genetics alt_id: HP:0004600 def: "Abnormality of the `dens of the axis` (FMA:24043), 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:C0000768 xref: UMLS:C0028881 xref: UMLS:C0205161 xref: UMLS:C1269060 xref: UMLS:C1704258 xref: UMLS:C1864794 xref: UMLS:C2347472 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003311 name: Hypoplasia of the odontoid process namespace: medical_genetics alt_id: HP:0003299 alt_id: HP:0004613 def: "Developmental hypoplasia of the `dens of the axis` (FMA:24043)." [HPO:probinson] synonym: "Hypoplastic odontoid process" EXACT [] synonym: "Odontoid hypoplasia" EXACT [] synonym: "Small odontoid process" EXACT [] xref: UMLS:C0028881 xref: UMLS:C0700321 xref: UMLS:C1269060 xref: UMLS:C1846439 xref: UMLS:C1854976 is_a: HP:0003310 ! Abnormality of the odontoid process is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0003312 name: Abnormal form of the vertebral bodies namespace: medical_genetics synonym: "Abnormally-shaped vertebrae" EXACT [] synonym: "Pear-shaped vertebral bodies" EXACT [] synonym: "Round vertebral bodies" EXACT [] xref: UMLS:C0223084 xref: UMLS:C0332490 xref: UMLS:C0439172 xref: UMLS:C1839326 xref: UMLS:C1866731 is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0003313 name: Anterior beaking of vertebral bodies namespace: medical_genetics alt_id: HP:0004584 alt_id: HP:0005122 synonym: "anterior beaking" EXACT [] synonym: "anterior beaking of vertebrae" EXACT [] synonym: "anterior wedging" EXACT [] xref: UMLS:C0205094 xref: UMLS:C0223084 xref: UMLS:C0549207 xref: UMLS:C1970084 is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0003314 name: Hyperkyphosis namespace: medical_genetics xref: UMLS:C1845112 is_a: HP:0003300 ! Ovoid vertebral bodies [Term] id: HP:0003316 name: Butterfly vertebrae namespace: medical_genetics xref: UMLS:C1844752 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0003318 name: Cervical spine hypermobility namespace: medical_genetics xref: UMLS:C0574967 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0003319 name: Abnormality of the cervical spine namespace: medical_genetics alt_id: HP:0004587 def: "Any abnormality of the `cervical vertebral column` (FMA:24138)." [HPO:probinson] synonym: "Abnormal cervical spine" EXACT [] synonym: "Abnormality of the cervical vertebrae" EXACT [] synonym: "Cervical spine abnormalities" EXACT [] synonym: "Cervical vertebral abnormalities" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0205161 xref: UMLS:C0728985 xref: UMLS:C1269538 xref: UMLS:C1704258 xref: UMLS:C1835155 xref: UMLS:C1852464 xref: UMLS:C2347472 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003320 name: C1-C2 subluxation namespace: medical_genetics def: "A `partial dislocation` (PATO:0002157) of the `atlantoaxial joints` (FMA:72336)." [HPO:curators] comment: A subluxation affecting the intervertebral joint between the first and second cervical vertebrae. xref: UMLS:C1848446 is_a: HP:0003308 ! Cervical subluxation is_a: HP:0008440 ! C1-C2 vertebral abnormality [Term] id: HP:0003321 name: Biconcave flattened vertebrae namespace: medical_genetics xref: UMLS:C1844704 is_a: HP:0000926 ! Platyspondyly is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0003322 name: EMG shows myopathic changes namespace: medical_genetics alt_id: HP:0003711 synonym: "EMG shows myopathy" EXACT [] xref: UMLS:C0013839 xref: UMLS:C0026848 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C1547282 xref: UMLS:C1705241 is_a: HP:0003198 ! Myopathy [Term] id: HP:0003323 name: Muscle weakness, progressive namespace: medical_genetics alt_id: HP:0009032 synonym: "Progressive muscular weakness" EXACT [] xref: UMLS:C0151786 xref: UMLS:C0205329 xref: UMLS:C0240421 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003324 name: Generalized muscle weakness namespace: medical_genetics def: "Generalized weakness or decreased strength of the muscles." [HPO:curators] synonym: "Generalized weakness" EXACT [] synonym: "Muscle weakness, generalized" EXACT [] xref: UMLS:C0004093 xref: UMLS:C0151786 xref: UMLS:C0205246 xref: UMLS:C0746674 xref: UMLS:C1883552 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003325 name: Limb-girdle muscle weakness namespace: medical_genetics 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:C0151786 xref: UMLS:C0221629 xref: UMLS:C0920884 xref: UMLS:C1858127 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003326 name: Myalgia namespace: medical_genetics alt_id: HP:0003718 def: "A tendency to experience muscle pain." [HPO:curators] synonym: "Muscle pain" EXACT [] xref: UMLS:C0231528 xref: UMLS:C1963177 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003327 name: Axial muscle weakness namespace: medical_genetics 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 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003328 name: Abnormal hair laboratory examination namespace: medical_genetics xref: UMLS:C0018494 xref: UMLS:C0205161 xref: UMLS:C0260877 xref: UMLS:C0444095 xref: UMLS:C1546660 xref: UMLS:C2347472 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 namespace: medical_genetics xref: UMLS:C0016203 xref: UMLS:C0205271 xref: UMLS:C0221961 xref: UMLS:C0231467 xref: UMLS:C0441889 xref: UMLS:C0542560 xref: UMLS:C1272706 xref: UMLS:C1283904 xref: UMLS:C1552654 xref: UMLS:C1552713 xref: UMLS:C1561545 xref: UMLS:C2239267 xref: UMLS:C2348088 is_a: HP:0003328 ! Abnormal hair laboratory examination [Term] id: HP:0003330 name: Abnormal bone laboratory examination namespace: medical_genetics xref: UMLS:C0205161 xref: UMLS:C0260877 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C2347472 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0003331 name: A thin seal of bone at the chondroosseous junction namespace: medical_genetics xref: UMLS:C0036492 xref: UMLS:C0205144 xref: UMLS:C0205168 xref: UMLS:C0262950 xref: UMLS:C0325125 xref: UMLS:C0391978 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1704637 xref: UMLS:C1706311 is_a: HP:0003330 ! Abnormal bone laboratory examination [Term] id: HP:0003332 name: Absent primary metaphyseal spongiosa namespace: medical_genetics xref: UMLS:C0205225 xref: UMLS:C0222671 xref: UMLS:C0332197 xref: UMLS:C0439631 is_a: HP:0003330 ! Abnormal bone laboratory examination [Term] id: HP:0003333 name: Increased serum beta-hexosaminidase namespace: medical_genetics alt_id: HP:0008299 comment: This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside. synonym: "Increased serum beta-hexosaminidase" EXACT [] xref: UMLS:C0005270 xref: UMLS:C0205217 xref: UMLS:C0229671 xref: UMLS:C0442805 xref: UMLS:C1550100 is_a: HP:0004345 ! Abnormality of ganglioside metabolism [Term] id: HP:0003334 name: Elevated catecholamines (in patients with pheochromocytoma) namespace: medical_genetics xref: UMLS:C0007412 xref: UMLS:C0030705 xref: UMLS:C0031511 xref: UMLS:C0205250 xref: UMLS:C1706920 is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003335 name: Low gonadotropins (secondary hypogonadism) namespace: medical_genetics synonym: "Gonadotropin insufficiency" EXACT [] xref: UMLS:C0018061 xref: UMLS:C0205251 xref: UMLS:C0271623 xref: UMLS:C0546642 xref: UMLS:C1299352 xref: UMLS:C1522385 xref: UMLS:C1550472 xref: UMLS:C1846227 is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003336 name: Arrest of endochondral ring structures with persistence of circumferential growth namespace: medical_genetics xref: UMLS:C0018270 xref: UMLS:C0205113 xref: UMLS:C0220844 xref: UMLS:C0237477 xref: UMLS:C0392351 xref: UMLS:C0521164 xref: UMLS:C0546816 xref: UMLS:C0678594 xref: UMLS:C1260969 xref: UMLS:C1457898 xref: UMLS:C1621966 xref: UMLS:C1705184 xref: UMLS:C1882953 xref: UMLS:C1882954 is_a: HP:0003330 ! Abnormal bone laboratory examination [Term] id: HP:0003337 name: Abnormal prothrombin consumption namespace: medical_genetics xref: UMLS:C0009830 xref: UMLS:C0033706 xref: UMLS:C0205161 xref: UMLS:C0220811 xref: UMLS:C1414504 xref: UMLS:C1947907 xref: UMLS:C2347472 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003338 name: Focal necrosis of right ventricular muscle cells namespace: medical_genetics xref: UMLS:C0018827 xref: UMLS:C0205090 xref: UMLS:C0333504 xref: UMLS:C0596981 xref: UMLS:C1522565 is_a: HP:0001627 ! Abnormality of the heart [Term] id: HP:0003339 name: Anemia corrected by uridylic acid and cytidylic acid namespace: medical_genetics xref: UMLS:C0002871 xref: UMLS:C0010729 xref: UMLS:C0042002 xref: UMLS:C0205202 xref: UMLS:C1000483 is_a: HP:0001903 ! Anemia [Term] id: HP:0003340 name: Abnormal dermatological laboratory findings namespace: medical_genetics comment: Consider integument abnormality, HP:0001574. xref: UMLS:C0438215 xref: UMLS:C2064808 is_obsolete: true [Term] id: HP:0003341 name: Skin cleavage in the lamina lucida namespace: medical_genetics xref: UMLS:C0444099 xref: UMLS:C0596311 xref: UMLS:C1123023 xref: UMLS:C1167355 xref: UMLS:C1278993 xref: UMLS:C1330957 xref: UMLS:C2004596 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0003342 name: Macromelanosomes on EM namespace: medical_genetics is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0003343 name: Glutathione synthetase deficiency namespace: medical_genetics xref: UMLS:C0398746 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003344 name: 3-Methylglutaric aciduria namespace: medical_genetics synonym: "3-Methylglutaconicaciduria" EXACT [] synonym: "3-methylglutaricaciduria" EXACT [] xref: UMLS:C0278026 is_a: HP:0003535 ! 3-Methylglutaconic aciduria [Term] id: HP:0003345 name: Elevated urinary norepinephrine namespace: medical_genetics xref: UMLS:C0205250 xref: UMLS:C0428372 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003347 name: Impaired lymphocyte transformation with phytohemagglutinin namespace: medical_genetics xref: UMLS:C0024262 xref: UMLS:C0031858 xref: UMLS:C0221099 xref: UMLS:C0684336 is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0003348 name: Hyperalaninemia namespace: medical_genetics def: "An increased concentration of `alanine` (CHEBI:16449) 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:C0268630 xref: UMLS:C1839424 xref: UMLS:C1849489 is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010916 ! Abnormality of alanine metabolism [Term] id: HP:0003349 name: Low cholesterol esterification rates namespace: medical_genetics def: "A reduction in the rate of `cholesterol esterification` (GO:0034435)." [HPO:probinson] xref: UMLS:C1843371 is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003351 name: Decreased circulating renin level namespace: medical_genetics alt_id: HP:0003263 def: "An decreased level of renin (PRO:000013883) in the `blood` (FMA:9670)." [HPO:probinson] synonym: "Decreased plasma renin activity" EXACT [] synonym: "Low plasma renin activity" EXACT [] synonym: "Suppressed plasma renin activity" EXACT [] xref: UMLS:C0855389 xref: UMLS:C1260953 xref: UMLS:C1845206 xref: UMLS:C1857565 xref: UMLS:C2041375 is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0003352 name: Endopolyploidy on chromosome studies of bone marrow namespace: medical_genetics 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. xref: UMLS:C0005953 xref: UMLS:C0008633 xref: UMLS:C0008976 xref: UMLS:C0557651 is_a: HP:0002916 ! Abnormality of chromosome segregation [Term] id: HP:0003353 name: Propionyl-CoA carboxylase deficiency namespace: medical_genetics def: "An `abnormality of amino acid metabolism` (HP:0004337) characterized by a `decreased rate` (PATO:0000911) of `propionyl-CoA carboxylase activity` (GO:0004658)." [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 is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0003354 name: Hyperthreoninemia namespace: medical_genetics def: "An increased concentration of `threonine` (CHEBI:26986) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C1848861 is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010900 ! Abnormality of threonine metabolism [Term] id: HP:0003355 name: Aminoaciduria namespace: medical_genetics alt_id: HP:0002903 alt_id: HP:0200014 def: "An increased concentration of an `amino acid` (CHEBI:33709 ) in the `urine` (FMA:12274)." [HPO:SKOEHLER] synonym: "Abnormal urinary amino-acid findings" RELATED [] xref: UMLS:C0042027 xref: UMLS:C0205161 xref: UMLS:C0238621 xref: UMLS:C0428201 xref: UMLS:C1524119 xref: UMLS:C2347472 is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0003356 name: Variable hypoglycemia namespace: medical_genetics xref: UMLS:C1844433 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0003357 name: Thymic hormone decreased namespace: medical_genetics xref: UMLS:C0040114 xref: UMLS:C0205216 xref: UMLS:C0392756 is_a: HP:0000777 ! Abnormality of the thymus [Term] id: HP:0003358 name: Elevated white blood cell cystine namespace: medical_genetics def: "An increased concentration of `cystine` (CHEBI:17376) within leukocytes." [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 is_a: HP:0010918 ! Abnormality of cysteine metabolism [Term] id: HP:0003359 name: Decreased urinary sulfate and urate namespace: medical_genetics comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. xref: UMLS:C0202239 xref: UMLS:C0729829 xref: UMLS:C0935936 xref: UMLS:C1848958 is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0004369 ! Decreased purine levels [Term] id: HP:0003360 name: Axonal loss with little evidence of demyelination or hypertrophic changes in nerve biopsies namespace: medical_genetics xref: UMLS:C0005558 xref: UMLS:C0011304 xref: UMLS:C0020564 xref: UMLS:C0027740 xref: UMLS:C0332120 xref: UMLS:C0333959 xref: UMLS:C0392747 xref: UMLS:C1280541 xref: UMLS:C1705241 xref: UMLS:C1832338 is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003361 name: Tryptophanuria namespace: medical_genetics def: "An increased concentration of `tryptophan` (CHEBI:27897) 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 is_a: HP:0003355 ! Aminoaciduria is_a: HP:0004365 ! Abnormality of tryptophan metabolism [Term] id: HP:0003362 name: Increased circulating very-low-density lipoprotein cholesterol namespace: medical_genetics def: "An increase in the amount of `very-low-density lipoprotein cholesterol` (CHEBI:47773) in the `blood` (FMA:9670)." [HPO:gcarletti] synonym: "Increased plasma VLDL cholesterol" EXACT [] xref: UMLS:C0032105 xref: UMLS:C0853086 is_a: HP:0010980 ! Hyperlipoproteinemia [Term] id: HP:0003363 name: Abdominal situs inversus namespace: medical_genetics def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the `viscera of the abdomen` (FMA:259123)." [HPO:probinson] synonym: "Situs inversus viscerum" EXACT [] xref: UMLS:C0000726 xref: UMLS:C0037221 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0003365 name: Arthralgia of the hip namespace: medical_genetics def: "Joint pain affecting the hip." [HPO:probinson] synonym: "Arthralgia (hip)" EXACT [] xref: UMLS:C0003862 xref: UMLS:C0019552 xref: UMLS:C0022122 is_a: HP:0003272 ! Abnormality of the hip [Term] id: HP:0003366 name: Abnormality of the femoral neck and head region namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0015815 xref: UMLS:C0933834 xref: UMLS:C1704258 is_a: HP:0002823 ! Abnormality of the femur is_a: HP:0003272 ! Abnormality of the hip [Term] id: HP:0003367 name: Abnormality of the femoral neck namespace: medical_genetics def: "An abnormality of the `femoral neck` (FMA:42385) (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0015815 xref: UMLS:C1704258 is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0003368 name: Abnormality of the femoral head namespace: medical_genetics def: "An abnormality of the `femoral head` (FMA:32851)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0015813 xref: UMLS:C1704258 is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0003370 name: Flat capital femoral epiphysis namespace: medical_genetics alt_id: HP:0006393 def: "An abnormal flattening of the `proximal epiphysis of the femur` (FMA:32841)." [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:C0006909 xref: UMLS:C0205324 xref: UMLS:C0457933 xref: UMLS:C1282299 xref: UMLS:C1842155 xref: UMLS:C1856921 xref: UMLS:C1856926 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0003371 name: Enlargement of the proximal femoral epiphysis namespace: medical_genetics def: "An abnormal enlargement of the `proximal epiphysis of the femur` (FMA:32841)." [HPO:probinson] synonym: "Enlarged capital femoral epiphyses" EXACT [] xref: UMLS:C1859697 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003373 name: Small pelvis namespace: medical_genetics xref: UMLS:C0230278 is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0003375 name: Narrow greater sacrosciatic notches namespace: medical_genetics 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:C0223658 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1235660 xref: UMLS:C1281466 xref: UMLS:C1283683 xref: UMLS:C1704243 xref: UMLS:C1857188 is_a: HP:0010456 ! Abnormality of the greater sacrosciatic notch [Term] id: HP:0003376 name: 'Steppage' gait namespace: medical_genetics 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:curators] synonym: "Steppage gait" EXACT [] xref: UMLS:C0427149 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0003377 name: Foot drop namespace: medical_genetics def: "Foot drop may be neurologic, muscular or anatomic in origin. It is recommended that a more specific term be chosen if possible." [HPO:curators] xref: UMLS:C0085684 is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0001436 ! Abnormality of the foot musculature [Term] id: HP:0003378 name: Axonal degeneration/regeneration on nerve biopsy namespace: medical_genetics synonym: "Axonal degeneration/regeneration" EXACT [] synonym: "Nerve biopsy shows axonal degeneration/regeneration" EXACT [] xref: UMLS:C0005558 xref: UMLS:C0027740 xref: UMLS:C0034963 xref: UMLS:C0220797 xref: UMLS:C0349676 xref: UMLS:C1280541 xref: UMLS:C1547282 xref: UMLS:C1837496 is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0003380 name: Decreased number of myelinated fibers namespace: medical_genetics 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 general, this finding can be observed on nerve biopsy)." [HPO:curators] synonym: "Decreased number of large and small myelinated fibers" EXACT [] synonym: "Decreased number of myelinated fibers may be found" EXACT [] synonym: "Loss of myelinated fibers" EXACT [] synonym: "Loss of myelinated fibers on nerve biopsy" EXACT [] synonym: "Nerve biopsy shows decreased number of myelinated fibers" EXACT [] synonym: "Nerve biopsy shows loss of large and small myelinated fibers" EXACT [] synonym: "Sural nerve biopsy shows loss of myelinated fibers" EXACT [] synonym: "Sural nerve biopsy shows marked loss of myelinated fibers" EXACT [] synonym: "Sural nerve biopsy shows severe loss of myelinated fibers" EXACT [] xref: UMLS:C0005558 xref: UMLS:C0026973 xref: UMLS:C0027740 xref: UMLS:C0205082 xref: UMLS:C0205216 xref: UMLS:C0220797 xref: UMLS:C0237753 xref: UMLS:C0243095 xref: UMLS:C0392756 xref: UMLS:C0449788 xref: UMLS:C0522501 xref: UMLS:C0549177 xref: UMLS:C0740403 xref: UMLS:C1280541 xref: UMLS:C1304649 xref: UMLS:C1517945 xref: UMLS:C1519275 xref: UMLS:C1547282 xref: UMLS:C1706089 xref: UMLS:C1858523 is_a: HP:0002520 ! Abnormal myelination [Term] id: HP:0003381 name: Demyelination namespace: medical_genetics xref: UMLS:C0011304 is_a: HP:0002520 ! Abnormal myelination [Term] id: HP:0003382 name: Hypertrophic nerve changes namespace: medical_genetics xref: UMLS:C0020564 xref: UMLS:C0027740 xref: UMLS:C0333959 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C1280541 xref: UMLS:C1705241 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003383 name: 'Onion bulb' formations on nerve biopsy namespace: medical_genetics synonym: "'onion bulb' formation on nerve biopsy" EXACT [] synonym: "'onion bulb' formations" EXACT [] synonym: "'onion bulb' formations may be present" EXACT [] synonym: "'onion bulbs' on nerve biopsy" EXACT [] synonym: "'onion' bulb formation" EXACT [] synonym: "Nerve biopsy shows 'onion bulb' formations" EXACT [] xref: UMLS:C0005558 xref: UMLS:C0027740 xref: UMLS:C0029035 xref: UMLS:C0150312 xref: UMLS:C0220797 xref: UMLS:C0449450 xref: UMLS:C0949117 xref: UMLS:C1262904 xref: UMLS:C1280541 xref: UMLS:C1449865 xref: UMLS:C1547282 xref: UMLS:C1847906 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003384 name: Axonal atrophy on nerve biopsy namespace: medical_genetics xref: UMLS:C0004461 xref: UMLS:C0005558 xref: UMLS:C0027740 xref: UMLS:C0220797 xref: UMLS:C0333641 xref: UMLS:C1280541 is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0003387 name: Decreased number of large myelinated fibers namespace: medical_genetics alt_id: HP:0006868 alt_id: HP:0007031 alt_id: HP:0007315 def: "A reduced number of large myelinated nerve fibers." [HPO:probinson] synonym: "Depletion of large myelinated fibers" EXACT [] synonym: "Loss of large myelinated fibers" EXACT [] synonym: "Loss of larger myelinated nerve fibers" EXACT [] synonym: "Nerve biopsy shows loss of large myelinated fibers" EXACT [] synonym: "Sural nerve biopsy shows loss of large myelinated fibers" EXACT [] xref: UMLS:C0005558 xref: UMLS:C0026973 xref: UMLS:C0027740 xref: UMLS:C0027750 xref: UMLS:C0220797 xref: UMLS:C0333668 xref: UMLS:C0549177 xref: UMLS:C0740403 xref: UMLS:C1280541 xref: UMLS:C1304649 xref: UMLS:C1517945 xref: UMLS:C1547282 xref: UMLS:C1704243 xref: UMLS:C1857161 is_a: HP:0003380 ! Decreased number of myelinated fibers [Term] id: HP:0003388 name: Easy fatigability namespace: medical_genetics xref: UMLS:C1837098 is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003389 name: Small 'onion bulbs' may be present namespace: medical_genetics xref: UMLS:C0029035 xref: UMLS:C0150312 xref: UMLS:C0449450 xref: UMLS:C0700321 xref: UMLS:C0949117 xref: UMLS:C1262904 xref: UMLS:C1449865 is_a: HP:0003383 ! 'Onion bulb' formations on nerve biopsy [Term] id: HP:0003390 name: Sensory axonal neuropathy namespace: medical_genetics alt_id: HP:0007248 def: "An axonal neuropathy of peripheral sensory nerves." [HPO:curators] synonym: "Axonal sensory neuropathy" EXACT [] synonym: "Peripheral sensory axonal neuropathy" RELATED [] xref: UMLS:C1842587 xref: UMLS:C1970883 is_a: HP:0000763 ! Sensory neuropathy is_a: HP:0003477 ! Axonal neuropathy [Term] id: HP:0003391 name: Gower sign namespace: medical_genetics def: "A phenomen 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: "Gowers sign" EXACT [] synonym: "Positive Gower sign" EXACT [] synonym: "Positive Gowers sign" EXACT [] xref: UMLS:C0234182 xref: UMLS:C0575071 is_a: HP:0003701 ! Proximal muscle weakness is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0003392 name: First dorsal interossei muscle weakness namespace: medical_genetics xref: UMLS:C1832277 is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003393 name: Thenar muscle atrophy namespace: medical_genetics xref: UMLS:C1864715 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003394 name: Muscle cramps namespace: medical_genetics xref: UMLS:C0026821 is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003396 name: Syringomyelia namespace: medical_genetics 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: UMLS:C0039144 is_a: HP:0100561 ! Spinal cord lesions [Term] id: HP:0003397 name: Generalized hypotonia due to defect at the neuromuscular junction namespace: medical_genetics xref: UMLS:C0027869 xref: UMLS:C1457869 xref: UMLS:C1858120 xref: UMLS:C1861101 is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003398 name: Abnormality of the neuromuscular junction namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0027869 xref: UMLS:C1704258 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003399 name: Proximal muscle weakness due to defect at the neuromuscular junction namespace: medical_genetics xref: UMLS:C0027869 xref: UMLS:C0221629 xref: UMLS:C1457869 xref: UMLS:C1861101 is_a: HP:0001324 ! Muscle weakness is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003400 name: Basal lamina 'onion bulb' formations on nerve biopsy namespace: medical_genetics xref: UMLS:C0005558 xref: UMLS:C0027740 xref: UMLS:C0085872 xref: UMLS:C0220797 xref: UMLS:C1280541 xref: UMLS:C1847906 is_a: HP:0003383 ! 'Onion bulb' formations on nerve biopsy [Term] id: HP:0003401 name: Paresthesia namespace: medical_genetics alt_id: HP:0002082 def: "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] synonym: "Paresthesias" EXACT [] xref: UMLS:C0030554 xref: UMLS:C2242996 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003402 name: Decreased miniature endplate potentials (MEPP) namespace: medical_genetics synonym: "Decreased miniature endplate potentials" EXACT [] synonym: "Small miniature endplate currents" EXACT [] synonym: "Small miniature endplate potentials" EXACT [] xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0521116 xref: UMLS:C0700321 xref: UMLS:C1705970 xref: UMLS:C2350343 is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003403 name: EMG: decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation namespace: medical_genetics alt_id: HP:0003478 synonym: "EMG shows decremental compound muscle action potential (CMAP) response to repetitive nerve stimulation" EXACT [] xref: UMLS:C0013839 xref: UMLS:C0430810 xref: UMLS:C0522028 xref: UMLS:C0871261 xref: UMLS:C1547282 xref: UMLS:C1704632 xref: UMLS:C1706817 is_a: HP:0003457 ! EMG abnormalities [Term] id: HP:0003404 name: Isolated absence of pain sensation namespace: medical_genetics xref: UMLS:C0205409 xref: UMLS:C0234194 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0007328 ! Decreased pain sensation [Term] id: HP:0003405 name: Diffuse axonal swelling namespace: medical_genetics xref: UMLS:C0205219 xref: UMLS:C0544925 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003406 name: Peripheral nerve compression namespace: medical_genetics xref: UMLS:C1851414 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003407 name: Neuropathy namespace: medical_genetics xref: UMLS:C0442874 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003408 name: Thin myelin sheaths namespace: medical_genetics xref: UMLS:C1843178 is_a: HP:0004335 ! Abnormal formation of myelin sheaths [Term] id: HP:0003409 name: Distal sensory impairment of all modalities namespace: medical_genetics synonym: "Distal sensory loss to all modalities" EXACT [] xref: UMLS:C0695347 xref: UMLS:C1547664 xref: UMLS:C1832335 xref: UMLS:C1836340 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003411 name: Irregular proximal femoral metaphyses namespace: medical_genetics xref: UMLS:C1836320 is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0003413 name: Atlantoaxial abnormality namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0450192 xref: UMLS:C1704258 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003414 name: Atlantoaxial dislocation namespace: medical_genetics def: "Partial dislocation of the atlantoaxial joint." [HPO:curators] synonym: "Atlanto-axial subluxation" EXACT [] synonym: "Atlantoaxial subluxation" EXACT [] xref: UMLS:C0205131 xref: UMLS:C0263905 xref: UMLS:C0332768 xref: UMLS:C1388934 is_a: HP:0003413 ! Atlantoaxial abnormality [Term] id: HP:0003416 name: Spinal canal stenosis namespace: medical_genetics synonym: "Narrow spinal canal" EXACT [] xref: UMLS:C0037922 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1861329 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003417 name: Coronal cleft vertebrae namespace: medical_genetics alt_id: HP:0003673 synonym: "coronal cleft of vertebrae" EXACT [] synonym: "Coronal clefts" EXACT [] synonym: "Coronal vertebral clefts" EXACT [] synonym: "Vertebral coronal clefts" EXACT [] xref: UMLS:C0549207 xref: UMLS:C1834954 xref: UMLS:C1839720 xref: UMLS:C1859137 xref: UMLS:C1866676 is_a: HP:0008428 ! Vertebral clefts [Term] id: HP:0003418 name: Back pain namespace: medical_genetics xref: UMLS:C0004604 xref: UMLS:C1963071 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003419 name: Low back pain namespace: medical_genetics synonym: "Lower back pain" EXACT [] xref: UMLS:C0024031 is_a: HP:0003418 ! Back pain [Term] id: HP:0003421 name: Platyspondyly (childhood) namespace: medical_genetics xref: UMLS:C0231335 xref: UMLS:C1865023 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0003422 name: Vertebral segmentation defects namespace: medical_genetics synonym: "Abnormal spinal segmentation" EXACT [] xref: UMLS:C0432163 xref: UMLS:C1848939 is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0003423 name: Thoracolumbar kyphoscoliosis namespace: medical_genetics synonym: "Dorsolumbar kyphosis" EXACT [] xref: UMLS:C1854939 xref: UMLS:C1859335 is_a: HP:0002751 ! Kyphoscoliosis is_a: HP:0002944 ! Thoracolumbar scoliosis is_a: HP:0005619 ! Thoracolumbar kyphosis [Term] id: HP:0003425 name: Segmental demyelination/remyelination on nerve biopsy namespace: medical_genetics xref: UMLS:C0005558 xref: UMLS:C0027740 xref: UMLS:C0220797 xref: UMLS:C0333457 xref: UMLS:C0334220 xref: UMLS:C1280541 is_a: HP:0003481 ! Segmental demyelination/remyelination [Term] id: HP:0003426 name: First dorsal interossei muscle atrophy namespace: medical_genetics xref: UMLS:C1832278 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003427 name: Thenar muscle weakness namespace: medical_genetics xref: UMLS:C1832276 is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003428 name: Generalized muscle weakness due to defect at the neuromuscular junction namespace: medical_genetics xref: UMLS:C0027869 xref: UMLS:C0746674 xref: UMLS:C1457869 xref: UMLS:C1861101 is_a: HP:0003324 ! Generalized muscle weakness is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003429 name: Hypomyelination namespace: medical_genetics xref: UMLS:C0544820 is_a: HP:0004335 ! Abnormal formation of myelin sheaths [Term] id: HP:0003430 name: EMG shows decremental compound motor action potential (CMAP) response to repetitive nerve stimulation namespace: medical_genetics xref: UMLS:C0001272 xref: UMLS:C0013839 xref: UMLS:C0205198 xref: UMLS:C0430810 xref: UMLS:C1285623 xref: UMLS:C1547282 xref: UMLS:C1548965 is_a: HP:0003403 ! EMG: decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation [Term] id: HP:0003431 name: Decreased motor nerve conduction velocity (NCV) namespace: medical_genetics alt_id: HP:0003395 synonym: "Decreased motor nerve conduction velocities (NCV)" EXACT [] synonym: "Reduced motor nerve conduction velocity" EXACT [] xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0457379 xref: UMLS:C1513492 xref: UMLS:C1705994 xref: UMLS:C1854030 xref: UMLS:C1857705 is_a: HP:0000762 ! Decreased nerve conduction velocities is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0003433 name: Myelin outfoldings may occur in a subset of patients namespace: medical_genetics xref: UMLS:C0026969 xref: UMLS:C0026973 xref: UMLS:C0030705 xref: UMLS:C1709305 is_a: HP:0004336 ! Myelin outfoldings [Term] id: HP:0003434 name: Sensory ataxic neuropathy namespace: medical_genetics xref: UMLS:C1843859 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003435 name: Cold-induced hand cramps namespace: medical_genetics xref: UMLS:C1832279 is_a: HP:0003449 ! Cold-induced muscle cramps [Term] id: HP:0003436 name: Prolonged miniature endplate currents (MEPC) namespace: medical_genetics synonym: "Prolonged miniature endplate currents" EXACT [] xref: UMLS:C0439590 xref: UMLS:C0521116 xref: UMLS:C1705970 is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003437 name: Normal or mildly decreased motor nerve conduction velocity (NCV) namespace: medical_genetics alt_id: HP:0003379 synonym: "Normal or mildly decreased motor nerve conduction velocity (NCV) (greater than 38 m/s)" EXACT [] xref: UMLS:C0205216 xref: UMLS:C0205307 xref: UMLS:C0392756 xref: UMLS:C0439166 xref: UMLS:C0457379 xref: UMLS:C0547040 xref: UMLS:C0750532 xref: UMLS:C1513492 xref: UMLS:C1704243 xref: UMLS:C1705994 xref: UMLS:C1857705 xref: UMLS:C2347086 is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0003438 name: Absent ankle reflexes namespace: medical_genetics xref: UMLS:C0558845 is_a: HP:0002522 ! Areflexia in lower limbs [Term] id: HP:0003440 name: Horizontal sacrum namespace: medical_genetics xref: UMLS:C1850558 is_a: HP:0005107 ! Abnormality of the sacrum [Term] id: HP:0003442 name: Distal lower limb muscle atrophy due to peripheral neuropathy namespace: medical_genetics xref: UMLS:C0031117 xref: UMLS:C1836451 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003443 name: Muscle biopsy shows decreased size of nerve terminals namespace: medical_genetics synonym: "Muscle biopsy shows small nerve terminals" EXACT [] xref: UMLS:C0185283 xref: UMLS:C0262346 xref: UMLS:C0332511 xref: UMLS:C0587033 xref: UMLS:C0700321 xref: UMLS:C1536372 xref: UMLS:C1547282 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003444 name: EMG: chronic denervation signs namespace: medical_genetics alt_id: HP:0007059 synonym: "Emg shows denervation" EXACT [] synonym: "Emg shows evidence of denervation" EXACT [] xref: UMLS:C0011307 xref: UMLS:C0013839 xref: UMLS:C0205191 xref: UMLS:C0332120 xref: UMLS:C1321798 xref: UMLS:C1522415 xref: UMLS:C1547282 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0003457 ! EMG abnormalities [Term] id: HP:0003445 name: EMG: neuropathic changes namespace: medical_genetics alt_id: HP:0002178 alt_id: HP:0002547 synonym: "Emg may show neurogenic changes" EXACT [] synonym: "EMG shows neurogenic abnormalities" EXACT [] synonym: "EMG shows neurogenic changes" EXACT [] synonym: "Emg shows neurogenic findings" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0013839 xref: UMLS:C0243095 xref: UMLS:C0392747 xref: UMLS:C0442874 xref: UMLS:C1547282 xref: UMLS:C1705241 is_a: HP:0003457 ! EMG abnormalities [Term] id: HP:0003446 name: Sural nerve biopsy shows chronic axonal neuropathy namespace: medical_genetics xref: UMLS:C0205191 xref: UMLS:C0270921 xref: UMLS:C0740403 xref: UMLS:C1547282 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0003447 name: Axonal loss namespace: medical_genetics xref: UMLS:C1832338 is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0003448 name: Decreased sensory nerve conduction velocities (NCV) namespace: medical_genetics synonym: "Decreased sensory nerve conduction velocities" EXACT [] synonym: "Decreased sensory nerve conduction velocity" EXACT [] xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0445254 xref: UMLS:C0457378 xref: UMLS:C1857705 is_a: HP:0001333 ! Abnormality of the sensory nervous system is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003449 name: Cold-induced muscle cramps namespace: medical_genetics xref: UMLS:C1861675 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003450 name: Axonal regeneration on nerve biopsy namespace: medical_genetics synonym: "Regenerative activity on nerve biopsy" EXACT [] xref: UMLS:C0005558 xref: UMLS:C0027740 xref: UMLS:C0220797 xref: UMLS:C0439167 xref: UMLS:C0441655 xref: UMLS:C0600075 xref: UMLS:C1280541 xref: UMLS:C1561536 xref: UMLS:C1621980 is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0003451 name: Increased rate of premature chromosome condensation namespace: medical_genetics def: "An increased rate of `premature` (PATO:0000694) `chromosome condensation` (GO:0030261)." [HPO:probinson] xref: UMLS:C1847344 is_a: HP:0011019 ! Abnormality of chromosome condensation [Term] id: HP:0003452 name: Increased serum iron namespace: medical_genetics xref: UMLS:C0151900 is_a: HP:0011031 ! Abnormality of iron homeostasis [Term] id: HP:0003453 name: Antineutrophil antibody positivity namespace: medical_genetics 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: UMLS:C0003241 xref: UMLS:C1858981 is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0003454 name: Platelet antibody positive namespace: medical_genetics def: "The presence in the serum of autoantibodies directed against thrombocytes." [HPO:probinson] synonym: "Platelet antibody" EXACT [] xref: UMLS:C0370058 xref: UMLS:C1858980 is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0003455 name: Elevated long chain fatty acids namespace: medical_genetics synonym: "Increased serum long-chain fatty acids" EXACT [] xref: UMLS:C1837271 xref: UMLS:C1859241 is_a: HP:0010964 ! Abnormality of long-chain fatty-acid metabolism [Term] id: HP:0003456 name: Low urinary cyclic AMP response to PTH administration namespace: medical_genetics xref: UMLS:C0001455 xref: UMLS:C0001554 xref: UMLS:C0042027 xref: UMLS:C0205251 xref: UMLS:C0871261 xref: UMLS:C1299352 xref: UMLS:C1524119 xref: UMLS:C1533734 xref: UMLS:C1550472 xref: UMLS:C1704632 xref: UMLS:C1706817 xref: UMLS:C1970431 is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003457 name: EMG abnormalities namespace: medical_genetics alt_id: HP:0002177 alt_id: HP:0003751 def: "Abnormal results of investigations using electromyography (EMG)." [HPO:curators] comment: This term should not be used for new annotations. The diseases should be annotated to specific abnormalities rather than diagnostic modalities used to detect the abnormalities. In the future this term may be made obsolete. synonym: "Abnormal EMG" EXACT [] synonym: "EMG abnormalities" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0013839 xref: UMLS:C0243095 xref: UMLS:C0476403 is_a: HP:0003011 ! Abnormality of musculature is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003458 name: EMG: myopathic abnormalities namespace: medical_genetics def: "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] synonym: "Myopathic electromyogram" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0013839 is_a: HP:0003457 ! EMG abnormalities [Term] id: HP:0003459 name: Polyclonal elevation of IgM namespace: medical_genetics xref: UMLS:C0439775 xref: UMLS:C0702240 is_a: HP:0003496 ! Increased IgM level [Term] id: HP:0003460 name: Markedly reduced IgA levels namespace: medical_genetics xref: UMLS:C1843528 is_a: HP:0002720 ! Decreased IgA [Term] id: HP:0003461 name: Increased urinary O-linked sialopeptides namespace: medical_genetics xref: UMLS:C1836533 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003462 name: Elevated 8-dehydrocholesterol namespace: medical_genetics xref: UMLS:C0011181 xref: UMLS:C0205250 is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003463 name: Lipopigment in extraneuronal cells namespace: medical_genetics xref: UMLS:C0007634 xref: UMLS:C0950695 is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003464 name: Abnormal cholesterol homeostasis namespace: medical_genetics xref: UMLS:C1843372 is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003465 name: Elevated 8(9)-cholestenol namespace: medical_genetics xref: UMLS:C0205250 is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003466 name: Paradoxical increased cortisol secretion on dexamethasone suppression test namespace: medical_genetics xref: UMLS:C0205217 xref: UMLS:C0205310 xref: UMLS:C0430115 xref: UMLS:C0442805 xref: UMLS:C1622340 is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003467 name: Atlantoaxial instability namespace: medical_genetics xref: UMLS:C0410653 xref: UMLS:C1860795 is_a: HP:0003413 ! Atlantoaxial abnormality [Term] id: HP:0003468 name: Abnormality of the vertebrae namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0549207 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003469 name: Dysmyelination namespace: medical_genetics comment: Defective formation of a myelin sheath. synonym: "Mri shows dysmyelination" EXACT [] xref: UMLS:C0024485 xref: UMLS:C1547282 xref: UMLS:C1857639 xref: UMLS:C2183255 is_a: HP:0004335 ! Abnormal formation of myelin sheaths [Term] id: HP:0003470 name: Paralysis namespace: medical_genetics 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: UMLS:C0522224 xref: UMLS:C2364097 is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0003471 name: Upper limb weakness and atrophy predominates namespace: medical_genetics xref: UMLS:C0004093 xref: UMLS:C0332251 xref: UMLS:C0333641 xref: UMLS:C0587246 xref: UMLS:C1140618 xref: UMLS:C1269078 xref: UMLS:C1282910 xref: UMLS:C1883552 xref: UMLS:C2364118 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003472 name: Hypocalcemic tetany namespace: medical_genetics xref: UMLS:C0151940 is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0002901 ! Hypocalcemia [Term] id: HP:0003473 name: Mild-moderate fatigable weakness of limb muscles namespace: medical_genetics xref: UMLS:C0004093 xref: UMLS:C0015385 xref: UMLS:C0026845 xref: UMLS:C0205081 xref: UMLS:C0231230 xref: UMLS:C0547040 xref: UMLS:C1280090 xref: UMLS:C1881878 xref: UMLS:C1883552 xref: UMLS:C1995013 xref: UMLS:C2364118 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003474 name: Sensory impairment namespace: medical_genetics xref: UMLS:C1850002 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003475 name: Proximal muscle involvement may occur namespace: medical_genetics xref: UMLS:C0026845 xref: UMLS:C0205107 xref: UMLS:C1314939 xref: UMLS:C1709305 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003476 name: Mild to moderate distal sensory impairment namespace: medical_genetics synonym: "Mild to moderate distal limb sensory loss" EXACT [] xref: UMLS:C0015385 xref: UMLS:C1280090 xref: UMLS:C1299392 xref: UMLS:C1832335 xref: UMLS:C1844866 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003477 name: Axonal neuropathy namespace: medical_genetics xref: UMLS:C0270921 is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0003479 name: Prolonged miniature endplate potentials (MEPP) namespace: medical_genetics synonym: "Prolonged miniature endplate potentials" EXACT [] xref: UMLS:C0439590 xref: UMLS:C2350343 is_a: HP:0003436 ! Prolonged miniature endplate currents (MEPC) [Term] id: HP:0003480 name: Cranial nerve involvement namespace: medical_genetics xref: UMLS:C1854510 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003481 name: Segmental demyelination/remyelination namespace: medical_genetics xref: UMLS:C0333457 xref: UMLS:C0334220 is_a: HP:0003381 ! Demyelination [Term] id: HP:0003482 name: EMG: axonal abnormality namespace: medical_genetics xref: UMLS:C0004461 xref: UMLS:C0429339 xref: UMLS:C1314939 xref: UMLS:C1705535 is_a: HP:0003457 ! EMG abnormalities [Term] id: HP:0003483 name: Lower limbs more affected than upper limbs namespace: medical_genetics xref: UMLS:C0023216 xref: UMLS:C0392760 xref: UMLS:C1140618 xref: UMLS:C1314939 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003484 name: Upper limb involvement may occur later namespace: medical_genetics xref: UMLS:C1709305 xref: UMLS:C1837519 is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003485 name: Distal lower limb muscle weakness due to peripheral neuropathy namespace: medical_genetics xref: UMLS:C0031117 xref: UMLS:C1836450 is_a: HP:0002935 ! Distal limb muscle weakness due to peripheral neuropathy [Term] id: HP:0003487 name: Babinski sign namespace: medical_genetics 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: UMLS:C0034935 is_a: HP:0007256 ! Pyramidal signs [Term] id: HP:0003489 name: Acute episodes of neuropathic symptoms namespace: medical_genetics comment: Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). xref: UMLS:C0205178 xref: UMLS:C0332189 xref: UMLS:C0442874 xref: UMLS:C0683368 xref: UMLS:C1457887 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003490 name: Defective dehydrogenation of isovaleryl CoA and butyryl CoA namespace: medical_genetics comment: Isovaleryl CoA is an intermediate product in the catabolism of leucine. Butyryl CoA is an intermediate in fatty acid degradation and in biosynthesis. xref: UMLS:C0054320 xref: UMLS:C0064096 xref: UMLS:C0332452 xref: UMLS:C0599226 is_a: HP:0004357 ! Abnormality of leucine metabolism is_a: HP:0004359 ! Abnormality of fatty-acid metabolism [Term] id: HP:0003491 name: Elevated plasma and urine inorganic pyrophosphate (PPI) namespace: medical_genetics xref: UMLS:C0032105 xref: UMLS:C0034320 xref: UMLS:C0042036 xref: UMLS:C0042037 xref: UMLS:C0205250 xref: UMLS:C0358591 xref: UMLS:C0871125 xref: UMLS:C1881215 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003492 name: High urinary gonadotropins (primary hypogonadism) namespace: medical_genetics xref: UMLS:C0018061 xref: UMLS:C0022735 xref: UMLS:C0042027 xref: UMLS:C0205250 xref: UMLS:C0546642 xref: UMLS:C0948896 xref: UMLS:C1299351 xref: UMLS:C1384582 xref: UMLS:C1522385 xref: UMLS:C1524119 is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003493 name: Antinuclear antibody positivity namespace: medical_genetics 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: UMLS:C0003243 xref: UMLS:C0151480 xref: UMLS:C0205250 xref: UMLS:C1835310 is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0003494 name: Loss of heterozygosity, multiple chromosomes namespace: medical_genetics is_obsolete: true [Term] id: HP:0003495 name: GM2-ganglioside accumulation namespace: medical_genetics xref: UMLS:C1848920 is_a: HP:0004345 ! Abnormality of ganglioside metabolism [Term] id: HP:0003496 name: Increased IgM level namespace: medical_genetics 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:C0205217 xref: UMLS:C0441889 xref: UMLS:C0442805 xref: UMLS:C1839972 is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0003497 name: Distal limb muscle weakness namespace: medical_genetics xref: UMLS:C1836526 is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003498 name: Short stature, disproportionate namespace: medical_genetics def: "A kind of `short stature` (HP:0004322) in which different regions of the body are shortened to differing extents." [HPO:probinson] synonym: "Disproportionate short stature" EXACT [] xref: UMLS:C0205350 xref: UMLS:C0349588 xref: UMLS:C2237041 is_a: HP:0004322 ! Short stature [Term] id: HP:0003499 name: Short stature, proportionate namespace: medical_genetics def: "A kind of `short stature` (HP:0004322) in which different regions of the body are shortened to a comparable extent." [HPO:probinson] xref: UMLS:C0205351 xref: UMLS:C0349588 xref: UMLS:C2237041 is_a: HP:0004322 ! Short stature [Term] id: HP:0003500 name: Short-trunked dwarfism namespace: medical_genetics xref: UMLS:C1854763 is_a: HP:0001516 ! Dwarfism [Term] id: HP:0003502 name: Mild short stature namespace: medical_genetics def: "A mild degree of short stature." [HPO:curators] xref: UMLS:C1833000 is_a: HP:0004322 ! Short stature [Term] id: HP:0003503 name: Mild to moderate short stature namespace: medical_genetics synonym: "Mild-moderate short stature" EXACT [] synonym: "Variable moderate short stature" EXACT [] xref: UMLS:C0205081 xref: UMLS:C1851802 xref: UMLS:C1855085 xref: UMLS:C1881878 is_a: HP:0004322 ! Short stature [Term] id: HP:0003504 name: Proportionate dwarfism namespace: medical_genetics xref: UMLS:C1855090 is_a: HP:0004322 ! Short stature [Term] id: HP:0003505 name: Short limb dwarfism namespace: medical_genetics alt_id: HP:0001523 alt_id: HP:0008912 alt_id: HP:0008914 synonym: "Dwarfism, short-limbed" EXACT [] synonym: "Short-limb dwarfism" EXACT [] synonym: "Short-limbed dwarfism" EXACT [] xref: UMLS:C0013336 xref: UMLS:C0239399 xref: UMLS:C1843097 xref: UMLS:C1855821 is_a: HP:0001516 ! Dwarfism [Term] id: HP:0003506 name: Lethal micromelic dwarfism namespace: medical_genetics xref: UMLS:C1861214 is_a: HP:0001516 ! Dwarfism [Term] id: HP:0003508 name: Proportionate short stature namespace: medical_genetics def: "Short stature affecting the trunk and the limbs proportionately." [HPO:curators] synonym: "Proportionate small stature" EXACT [] xref: UMLS:C0205351 xref: UMLS:C0349588 xref: UMLS:C2237041 is_a: HP:0004322 ! Short stature [Term] id: HP:0003509 name: Marked micromelic dwarfism namespace: medical_genetics synonym: "Severe micromelic dwarfism" EXACT [] xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1849286 xref: UMLS:C1860189 is_a: HP:0001516 ! Dwarfism [Term] id: HP:0003510 name: Short stature, severe namespace: medical_genetics alt_id: HP:0008920 def: "A severe degree of short stature." [HPO:curators] xref: UMLS:C0205082 xref: UMLS:C0349588 xref: UMLS:C1519275 xref: UMLS:C2237041 is_a: HP:0004322 ! Short stature [Term] id: HP:0003512 name: Adult female height 130-157 cm namespace: medical_genetics xref: UMLS:C1842216 is_a: HP:0004322 ! Short stature [Term] id: HP:0003513 name: Ratio of renal calcium clearance to creatinine clearance usually below 0.01 namespace: medical_genetics xref: UMLS:C0006675 xref: UMLS:C0006726 xref: UMLS:C0232813 xref: UMLS:C0456603 xref: UMLS:C0699829 xref: UMLS:C0812399 xref: UMLS:C1547037 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003514 name: Deficiency or absence of cytochrome b(-245) namespace: medical_genetics synonym: "Deficiency or absence of cytochrome b" EXACT [] xref: UMLS:C0010744 xref: UMLS:C0011155 xref: UMLS:C0162429 xref: UMLS:C1623416 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003515 name: Increased linear growth namespace: medical_genetics synonym: "Accelerated linear growth" EXACT [] xref: UMLS:C1837794 xref: UMLS:C1865242 is_a: HP:0000098 ! Tall stature [Term] id: HP:0003516 name: Normal to tall stature namespace: medical_genetics xref: UMLS:C0205307 xref: UMLS:C0241240 xref: UMLS:C0439166 xref: UMLS:C2347086 is_a: HP:0000098 ! Tall stature [Term] id: HP:0003517 name: Birth length greater than 97th percentile namespace: medical_genetics xref: UMLS:C0419415 xref: UMLS:C1264641 xref: UMLS:C1704243 is_a: HP:0000098 ! Tall stature [Term] id: HP:0003518 name: Adult male height 142-169 cm namespace: medical_genetics xref: UMLS:C1842215 is_a: HP:0004322 ! Short stature [Term] id: HP:0003520 name: Rhizomelic dwarfism namespace: medical_genetics xref: UMLS:C1856771 is_a: HP:0001516 ! Dwarfism [Term] id: HP:0003521 name: Short stature, disproportionate (short trunk) namespace: medical_genetics def: "A type of `disproportionate short stature` (HP:0003498) characterized by a short trunk but a average-sized limbs." [HPO:probinson] synonym: "Disproportionate short-trunked short stature" EXACT [] xref: UMLS:C0205350 xref: UMLS:C0349588 xref: UMLS:C0424639 xref: UMLS:C0521527 xref: UMLS:C1868676 xref: UMLS:C2237041 is_a: HP:0003498 ! Short stature, disproportionate [Term] id: HP:0003522 name: Disproportionate short stature (short trunk), identifiable in childhood namespace: medical_genetics xref: UMLS:C0205350 xref: UMLS:C0205396 xref: UMLS:C0231335 xref: UMLS:C0349588 xref: UMLS:C0521527 xref: UMLS:C1705683 xref: UMLS:C2237041 is_a: HP:0003521 ! Short stature, disproportionate (short trunk) [Term] id: HP:0003523 name: Short-limb dwarfism identifiable during childhood namespace: medical_genetics xref: UMLS:C0205396 xref: UMLS:C0231335 xref: UMLS:C1705683 xref: UMLS:C1855821 is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0003524 name: Decreased methionine synthase activity namespace: medical_genetics def: "A reduction in `methionine synthase activity` (GO:0008705)." [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:C0039676 xref: UMLS:C0086439 xref: UMLS:C0205216 xref: UMLS:C0268611 xref: UMLS:C0392756 xref: UMLS:C0439167 xref: UMLS:C0441655 xref: UMLS:C0600075 xref: UMLS:C1152254 xref: UMLS:C1417453 xref: UMLS:C1561536 is_a: HP:0010901 ! Abnormality of methionine metabolism [Term] id: HP:0003525 name: Elevated blood CPK, phosphate and potassium namespace: medical_genetics xref: UMLS:C0005767 xref: UMLS:C0005768 xref: UMLS:C0031603 xref: UMLS:C0032821 xref: UMLS:C0162800 xref: UMLS:C0205250 xref: UMLS:C0597277 xref: UMLS:C1418571 xref: UMLS:C1601799 is_a: HP:0003236 ! Elevated serum creatine phosphokinase [Term] id: HP:0003526 name: Orotic acid crystalluria namespace: medical_genetics def: "Formation of crystals owing to an increased concentration of `orotic acid` (CHEBI:16742) in the urine (FMA:12274)." [HPO:probinson] xref: UMLS:C0029300 xref: UMLS:C0151579 is_a: HP:0010928 ! Abnormality of orotic acid metabolism [Term] id: HP:0003527 name: Hyperprostaglandinuria namespace: medical_genetics def: "An increased concentration of `prostaglandin` (CHEBI:26333) in the urine." [HPO:probinson] xref: UMLS:C1866498 is_a: HP:0011023 ! Abnormality of prostaglandin metabolism [Term] id: HP:0003528 name: Elevated calcitonin namespace: medical_genetics 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 is_a: HP:0100530 ! Abnormality of calcium-phosphate metabolism [Term] id: HP:0003529 name: Parathormone-independent renal tubular calcium reabsorption defect namespace: medical_genetics xref: UMLS:C0006675 xref: UMLS:C0006726 xref: UMLS:C0030520 xref: UMLS:C0085862 xref: UMLS:C0599299 xref: UMLS:C1299583 xref: UMLS:C1457869 xref: UMLS:C1861101 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003530 name: Glutaric acidemia namespace: medical_genetics def: "An increased concentration of `glutaric acid` (CHEBI:17859) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C0268030 is_a: HP:0001941 ! Acidosis is_a: HP:0010995 ! Abnormality of dicarboxylic acid metabolism [Term] id: HP:0003532 name: Ornithinuria namespace: medical_genetics def: "An increased concentration of `ornithine` (CHEBI:18257) in the urine." [HPO:probinson] is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003533 name: Delayed oxidation of acetaldehyde namespace: medical_genetics comment: In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase. xref: UMLS:C0000966 xref: UMLS:C0030011 xref: UMLS:C0205421 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003534 name: Reduced xanthine dehydrogenase activity namespace: medical_genetics def: "An abnormal reduction in `xanthine dehydrogenase activity` (GO:0004854)." [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 is_a: HP:0010933 ! Abnormality of xanthine metabolism [Term] id: HP:0003535 name: 3-Methylglutaconic aciduria namespace: medical_genetics 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 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003536 name: Decreased fumarate hydratase activity namespace: medical_genetics def: "An `abnormality of Krebs cycle metabolism` (HP:0000816) that is characterized by a `decreased rate` (PATO:0000911) of `fumarate hydratase activity` (GO:0004333)." [HPO:probinson] comment: Fumarate hydratase belongs to the tricarboxylic acid (Krebs) cycle. It catalyzes the conversion of fumarate to malate. xref: UMLS:C1853903 is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism [Term] id: HP:0003537 name: Hypouricemia namespace: medical_genetics def: "An abnormally low level of uric acid in the blood." [HPO:curators] xref: UMLS:C0221333 is_a: HP:0004369 ! Decreased purine levels [Term] id: HP:0003538 name: Increased serum iduronate sulfatase activity namespace: medical_genetics def: "An `increased rate` (PATO:0000912) of `iduronate-2-sulfatase activity`(GO:0004423) in the `blood` (FMA:9670)." [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 [] xref: UMLS:C0020814 xref: UMLS:C0205217 xref: UMLS:C0229671 xref: UMLS:C0442805 xref: UMLS:C1550100 is_a: HP:0004355 ! Abnormality of proteoglycan metabolism [Term] id: HP:0003540 name: Abnormal platelet aggregation namespace: medical_genetics synonym: "Abnormal platelet function" EXACT [] synonym: "Defective platelet aggregation" EXACT [] synonym: "Deficient platelet aggregation" EXACT [] synonym: "Platelet aggregation defect" EXACT [] xref: UMLS:C0011155 xref: UMLS:C0032176 xref: UMLS:C0332452 xref: UMLS:C0541767 xref: UMLS:C0677599 xref: UMLS:C0855740 xref: UMLS:C0920267 xref: UMLS:C1636779 xref: UMLS:C1855853 is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0003541 name: Dermatan and heparan sulfate excretion in urine namespace: medical_genetics xref: UMLS:C0011602 xref: UMLS:C0019143 xref: UMLS:C0042036 xref: UMLS:C0042037 xref: UMLS:C0221102 xref: UMLS:C0504085 is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0004355 ! Abnormality of proteoglycan metabolism is_a: HP:0011020 ! Abnormality of mucopolysaccharide metabolism [Term] id: HP:0003542 name: Increased serum pyruvate namespace: medical_genetics def: "An `increased concentration` (PATO:0001162) of `pyruvate` (CHEBI:15361) in the `blood` (FMA:9670)." [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 is_a: HP:0004366 ! Abnormality of glycolysis [Term] id: HP:0003543 name: Ketonemia namespace: medical_genetics xref: UMLS:C0235430 is_a: HP:0001946 ! Ketosis [Term] id: HP:0003544 name: Muscle biopsy shows dystrophic changes namespace: medical_genetics xref: UMLS:C0185283 xref: UMLS:C0333607 xref: UMLS:C0392747 xref: UMLS:C0587033 xref: UMLS:C1536372 xref: UMLS:C1547282 xref: UMLS:C1705241 is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0003546 name: Exercise intolerance namespace: medical_genetics xref: UMLS:C0241885 is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003547 name: Shoulder girdle muscle weakness namespace: medical_genetics alt_id: HP:0003695 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 and back weakness" EXACT [] synonym: "Shoulder girdle weakness" EXACT [] synonym: "Shoulder weakness" EXACT [] xref: UMLS:C0004093 xref: UMLS:C0151786 xref: UMLS:C0241035 xref: UMLS:C0427063 xref: UMLS:C0427245 xref: UMLS:C0748691 xref: UMLS:C1279862 xref: UMLS:C1883552 xref: UMLS:C2364118 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003548 name: Electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria namespace: medical_genetics xref: UMLS:C0026019 xref: UMLS:C0026237 xref: UMLS:C0332482 xref: UMLS:C1547282 xref: UMLS:C1706693 is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003549 name: Abnormality of connective tissue namespace: medical_genetics def: "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat)." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0009780 xref: UMLS:C1704258 is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0003550 name: Lymphedema, predominantly in the lower limbs namespace: medical_genetics xref: UMLS:C0023216 xref: UMLS:C0024236 is_a: HP:0001004 ! Lymphedema [Term] id: HP:0003551 name: Difficulty climbing stairs namespace: medical_genetics synonym: "Difficulty in walking, especially up stairs" EXACT [] synonym: "Difficulty walking up stairs" EXACT [] xref: UMLS:C0080331 xref: UMLS:C0311394 xref: UMLS:C0561944 xref: UMLS:C1299586 xref: UMLS:C1710179 xref: UMLS:C2346415 xref: UMLS:C2368355 is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003552 name: Muscle stiffness namespace: medical_genetics xref: UMLS:C0221170 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003553 name: Cellulitis due to immunodeficiency namespace: medical_genetics def: "The presence of cellulitis (a diffuse inflammation of connective tissue) on the basis of an immunodeficiency." [HPO:curators] xref: UMLS:C0007642 xref: UMLS:C0021051 xref: UMLS:C2025995 is_a: HP:0100658 ! Cellulitis [Term] id: HP:0003554 name: Type 2 muscle fiber atrophy namespace: medical_genetics def: "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy." [HPO:curators] synonym: "Muscle biopsy shows type 2 fiber atrophy" EXACT [] synonym: "Type 2 fiber atrophy" EXACT [] xref: UMLS:C0026845 xref: UMLS:C0185283 xref: UMLS:C0242873 xref: UMLS:C0333641 xref: UMLS:C0587033 xref: UMLS:C1536372 xref: UMLS:C1547282 xref: UMLS:C1864580 is_a: HP:0100295 ! Muscle fiber atrophy [Term] id: HP:0003555 name: Muscle fiber splitting namespace: medical_genetics 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 [] xref: UMLS:C0225326 xref: UMLS:C0242697 xref: UMLS:C0304068 xref: UMLS:C1260603 xref: UMLS:C1304649 xref: UMLS:C1444777 xref: UMLS:C1534709 xref: UMLS:C1705208 xref: UMLS:C1881714 is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003557 name: Increased variability in muscle fiber diameter namespace: medical_genetics 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] 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: "Muscle biopsy shows increased fiber size variation" EXACT [] synonym: "Muscle biopsy shows increased variation in fiber size" EXACT [] synonym: "Variation in muscle fiber size" EXACT [] xref: UMLS:C0185283 xref: UMLS:C0205217 xref: UMLS:C0205419 xref: UMLS:C0225326 xref: UMLS:C0242697 xref: UMLS:C0304068 xref: UMLS:C0439828 xref: UMLS:C0442805 xref: UMLS:C0456389 xref: UMLS:C0587033 xref: UMLS:C1260603 xref: UMLS:C1304649 xref: UMLS:C1536372 xref: UMLS:C1547282 xref: UMLS:C1705098 xref: UMLS:C1705208 xref: UMLS:C1850833 is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003558 name: Rhabdomyolysis may follow severe exercise in hot conditions, neuroleptic drugs, alcohol, or infections namespace: medical_genetics xref: UMLS:C0001962 xref: UMLS:C0001975 xref: UMLS:C0015259 xref: UMLS:C0021311 xref: UMLS:C0035410 xref: UMLS:C0040615 xref: UMLS:C0205082 xref: UMLS:C0348080 xref: UMLS:C0444519 xref: UMLS:C1519275 xref: UMLS:C1522704 xref: UMLS:C1705253 xref: UMLS:C1719822 xref: UMLS:C2215684 xref: UMLS:C2350229 is_a: HP:0003201 ! Rhabdomyolysis [Term] id: HP:0003559 name: Muscle hyperirritability namespace: medical_genetics xref: UMLS:C1853701 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003560 name: Muscular dystrophy namespace: medical_genetics 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, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators] xref: UMLS:C0026850 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003561 name: Birth length <3rd percentile namespace: medical_genetics synonym: "Birth length < 3rd percentile" EXACT [] synonym: "Birth length less than 3rd percentile" EXACT [] xref: UMLS:C0205437 xref: UMLS:C0419415 xref: UMLS:C1264641 is_a: HP:0004322 ! Short stature [Term] id: HP:0003562 name: Abnormal metaphyseal vascular invasion namespace: medical_genetics xref: UMLS:C0205161 xref: UMLS:C0222671 xref: UMLS:C1269955 xref: UMLS:C1558950 xref: UMLS:C1801960 xref: UMLS:C2347472 is_a: HP:0003330 ! Abnormal bone laboratory examination [Term] id: HP:0003563 name: Hypobetalipoproteinemia namespace: medical_genetics def: "An decrease in the amount of `low-density lipoprotein cholesterol` (CHEBI:47774) in the `blood` (FMA:9670)." [HPO:gcarletti] comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. xref: UMLS:C0020597 is_a: HP:0010981 ! Hypolipoproteinemia [Term] id: HP:0003564 name: Folate-dependent fragile site at Xq28 namespace: medical_genetics 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). xref: UMLS:C0178638 xref: UMLS:C0677504 xref: UMLS:C0851827 xref: UMLS:C1520200 xref: UMLS:C1701901 is_a: HP:0003220 ! Abnormality of chromosome stability [Term] id: HP:0003565 name: Elevated erythrocyte sedimentation rate namespace: medical_genetics 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:C0086250 xref: UMLS:C0151632 xref: UMLS:C0205217 xref: UMLS:C0205250 xref: UMLS:C0442805 xref: UMLS:C1114891 xref: UMLS:C1299351 xref: UMLS:C1619634 xref: UMLS:C1833180 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003566 name: Increased serum prostaglandin E2 namespace: medical_genetics alt_id: HP:0008298 def: "An increased concentration of `prostaglandin E2` (CHEBI:15551) in the blood." [HPO:probinson] synonym: "Elevated prostaglandin e2" EXACT [] xref: UMLS:C0012472 xref: UMLS:C0205250 xref: UMLS:C1866497 is_a: HP:0011023 ! Abnormality of prostaglandin metabolism [Term] id: HP:0003567 name: Mucopolysacchariduria namespace: medical_genetics def: "An increased concentration of `mucopolysaccharide` (CHEBI:37395) in the `urine` (FMA:12274)." [HPO:probinson] is_a: HP:0011020 ! Abnormality of mucopolysaccharide metabolism [Term] id: HP:0003568 name: Decreased glucosephosphate isomerase activity namespace: medical_genetics alt_id: HP:0003290 def: "A `decreased rate` (PATO:0000911) of `glucose-6-phosphate isomerase activity` (GO:0004347)." [HPO:gcarletti] comment: Deficiency of glucose-6-phosphate isomerase (EC 5.3.1.9). synonym: "Glucosephosphate isomerase deficiency" EXACT [] synonym: "Phosphohexose isomerase deficiency" EXACT [] xref: UMLS:C0011155 xref: UMLS:C0017759 xref: UMLS:C0085144 xref: UMLS:C0162429 xref: UMLS:C1333690 xref: UMLS:C1623416 is_a: HP:0004366 ! Abnormality of glycolysis [Term] id: HP:0003569 name: Myopathic changes on muscle biopsy namespace: medical_genetics synonym: "Myopathic changes on biopsy" EXACT [] synonym: "Myopathic pattern muscle biopsy" EXACT [] xref: UMLS:C0005558 xref: UMLS:C0185283 xref: UMLS:C0220797 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C0449774 xref: UMLS:C0587033 xref: UMLS:C1536372 xref: UMLS:C1705241 is_a: HP:0003198 ! Myopathy [Term] id: HP:0003570 name: Molybdenum cofactor deficiency namespace: medical_genetics xref: UMLS:C0268119 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003571 name: Propionicacidemia namespace: medical_genetics is_a: HP:0001941 ! Acidosis [Term] id: HP:0003572 name: Low plasma citrulline namespace: medical_genetics def: "A decreased concentration of `citrulline` (CHEBI:18211) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C1839532 is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis [Term] id: HP:0003573 name: Increased total bilirubin namespace: medical_genetics synonym: "Increased bilirubin" EXACT [] xref: UMLS:C0311468 xref: UMLS:C0741494 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0003574 name: Positive regitine blocking test namespace: medical_genetics 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. xref: UMLS:C0022885 xref: UMLS:C0039593 xref: UMLS:C0136603 xref: UMLS:C0439178 xref: UMLS:C0456984 xref: UMLS:C1446409 xref: UMLS:C1514241 xref: UMLS:C1704435 is_a: HP:0002640 ! Hypertension associated with pheochromocytoma [Term] id: HP:0003575 name: Increased intracellular sodium namespace: medical_genetics def: "An abnormally increased `sodium` (CHEBI:29101) concentration in the `cytosol` (FMA:66836)." [HPO:gcarletti] xref: UMLS:C0037473 xref: UMLS:C0037570 xref: UMLS:C0175996 xref: UMLS:C0178719 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C0597484 is_a: HP:0010931 ! Abnormality of sodium homeostasis [Term] id: HP:0003577 name: Congenital onset namespace: medical_genetics alt_id: HP:0003595 alt_id: HP:0003624 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. synonym: "Onset at birth" EXACT [] synonym: "Onset at birth or early childhood" EXACT [] synonym: "Onset at birth or early infancy" EXACT [] xref: UMLS:C0005615 xref: UMLS:C0332162 xref: UMLS:C0599196 xref: UMLS:C1550722 is_a: HP:0011007 ! Age of onset [Term] id: HP:0003581 name: Adult onset namespace: medical_genetics 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 20 years or later." [HPO:probinson] synonym: "Adult onset has been reported" EXACT [] synonym: "Onset before age 40 years" EXACT [] synonym: "Onset in adulthood" EXACT [] synonym: "Onset in early adulthood" EXACT [] synonym: "Onset in third decade" EXACT [] synonym: "Onset in third or fourth decade" EXACT [] xref: UMLS:C0332162 xref: UMLS:C0439509 xref: UMLS:C0680085 xref: UMLS:C0684224 xref: UMLS:C0700287 xref: UMLS:C0700597 xref: UMLS:C1415458 xref: UMLS:C1510829 xref: UMLS:C1836537 is_a: HP:0011007 ! Age of onset [Term] id: HP:0003584 name: Late onset namespace: medical_genetics def: "A type of `adult onset` with onset of symptoms after the age of 60 years." [HPO:probinson] xref: UMLS:C0205087 xref: UMLS:C0332162 is_a: HP:0003581 ! Adult onset [Term] id: HP:0003586 name: Onset by 3 years of age namespace: medical_genetics is_a: HP:0003621 ! Juvenile onset [Term] id: HP:0003587 name: Insidious onset namespace: medical_genetics def: "Gradual, very slow onset of disease manifestations." [HPO:probinson] xref: UMLS:C1298634 is_a: HP:0011008 ! Speed of onset [Term] id: HP:0003590 name: Adolescent onset namespace: medical_genetics alt_id: HP:0003588 alt_id: HP:0003597 alt_id: HP:0003602 alt_id: HP:0003603 alt_id: HP:0003626 alt_id: HP:0003628 alt_id: HP:0003668 def: "Onset of disease manifestations during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 19 years)." [HPO:probinson] comment: Adolescent is defined by WHO as a person between 10-19 years of age. synonym: "Mean age of onset 18 years" EXACT [] synonym: "Onset about puberty" EXACT [] synonym: "Onset in 2nd and 3rd decade" EXACT [] synonym: "Onset in adolescence" EXACT [] synonym: "Onset in second and third decades" EXACT [] synonym: "Onset in second decade" EXACT [] synonym: "Peak age of onset in second decade (range childhood to 50 years)" EXACT [] synonym: "Teenage onset" EXACT [] xref: UMLS:C0001578 xref: UMLS:C0001779 xref: UMLS:C0001792 xref: UMLS:C0034011 xref: UMLS:C0205653 xref: UMLS:C0332162 xref: UMLS:C0439234 xref: UMLS:C0444504 xref: UMLS:C0677548 is_a: HP:0011007 ! Age of onset [Term] id: HP:0003593 name: Infantile onset namespace: medical_genetics 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 within the first 24 months of life." [HPO:probinson] comment: Onset of signs or symptoms of disease within the first 24 months of life. synonym: "Early age of onset" EXACT [] synonym: "Early onset, mild and relatively uncomplicated course" EXACT [] synonym: "Infantile onset" EXACT [] synonym: "Onset before age 2 years" EXACT [] synonym: "Onset in early infancy" EXACT [] synonym: "Onset in first months of life" EXACT [] synonym: "Onset in first year of life" EXACT [] synonym: "Onset in infancy" EXACT [] synonym: "Onset in infancy or early childhood" EXACT [] synonym: "Onset usually in infancy or early childhood" EXACT [] synonym: "Onset within first 6 months of life" EXACT [] synonym: "Postnatal onset" EXACT [] synonym: "Prelingual onset" EXACT [] xref: UMLS:C0001779 xref: UMLS:C0001792 xref: UMLS:C0231330 xref: UMLS:C0332162 xref: UMLS:C0599196 xref: UMLS:C1279919 xref: UMLS:C1510829 xref: UMLS:C1833334 xref: UMLS:C1848924 xref: UMLS:C1864816 is_a: HP:0011007 ! Age of onset [Term] id: HP:0003596 name: Middle age onset namespace: medical_genetics 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 [Term] id: HP:0003605 name: Onset of lymphedema around puberty namespace: medical_genetics xref: UMLS:C0024236 xref: UMLS:C0034011 xref: UMLS:C0332162 is_a: HP:0001004 ! Lymphedema [Term] id: HP:0003606 name: Absent urinary urothione namespace: medical_genetics comment: Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor. xref: UMLS:C0042027 xref: UMLS:C0077933 xref: UMLS:C0332197 xref: UMLS:C1524119 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003607 name: 4-Hydroxyphenylacetic aciduria namespace: medical_genetics def: "Increased concentration of `4-hydroxyphenylacetic acid` (CHEBI:18101) 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 is_a: HP:0010996 ! Abnormality of monocarboxylic acid metabolism [Term] id: HP:0003608 name: Increased urinary sodium namespace: medical_genetics xref: UMLS:C0854101 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003609 name: Electron microscopy of foam cells shows lamellar inclusions namespace: medical_genetics xref: UMLS:C0016390 xref: UMLS:C0026019 xref: UMLS:C1512693 xref: UMLS:C1547282 xref: UMLS:C1708637 is_a: HP:0003651 ! Presence of foam cells [Term] id: HP:0003610 name: Fibroblast metachromasia namespace: medical_genetics 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. xref: UMLS:C0016030 xref: UMLS:C0333936 is_a: HP:0011020 ! Abnormality of mucopolysaccharide metabolism [Term] id: HP:0003612 name: Positive ferric chloride test namespace: medical_genetics 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. xref: UMLS:C0022885 xref: UMLS:C0039593 xref: UMLS:C0060229 xref: UMLS:C0439178 xref: UMLS:C0456984 xref: UMLS:C0850974 xref: UMLS:C1446409 xref: UMLS:C1514241 xref: UMLS:C1704435 xref: UMLS:C2346593 is_a: HP:0010893 ! Abnormality of phenylalanine metabolism [Term] id: HP:0003613 name: Phospholipid antibody positivity namespace: medical_genetics 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 [] xref: UMLS:C0162595 xref: UMLS:C1858982 is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0003614 name: Trimethylaminuria namespace: medical_genetics xref: UMLS:C0342739 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003616 name: premature separation of centromeric heterochromatin namespace: medical_genetics xref: UMLS:C0036679 xref: UMLS:C0205252 xref: UMLS:C0237868 xref: UMLS:C1166670 xref: UMLS:C1881713 is_a: HP:0200024 ! Premature chromatid separation [Term] id: HP:0003617 name: Onset 3 months of age up to 5 years namespace: medical_genetics xref: UMLS:C0001779 xref: UMLS:C0001792 xref: UMLS:C0332162 xref: UMLS:C0439231 xref: UMLS:C0439234 is_a: HP:0003621 ! Juvenile onset [Term] id: HP:0003618 name: Variable age at onset namespace: medical_genetics alt_id: HP:0003630 synonym: "Variable age at onset (childhood to adult)" EXACT [] synonym: "Variable onset age" EXACT [] xref: UMLS:C0001675 xref: UMLS:C0206132 xref: UMLS:C0231335 xref: UMLS:C0439828 xref: UMLS:C1705098 xref: UMLS:C1706450 xref: UMLS:C1843930 is_a: HP:0003674 ! Onset [Term] id: HP:0003621 name: Juvenile onset namespace: medical_genetics 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 def: "Onset of signs or symptoms of disease in childhood, defined here as between the ages of 2 and 10 years." [HPO:probinson] synonym: "Childhood onset" EXACT [] synonym: "Onset before adolescence" EXACT [] synonym: "Onset between 1-3 years" EXACT [] synonym: "Onset early childhood" EXACT [] synonym: "Onset in childhood" EXACT [] synonym: "Onset in childhood (6-7 years)" EXACT [] synonym: "Onset in childhood or adolescence" EXACT [] synonym: "Onset in childhood or early adolescence" EXACT [] synonym: "Onset in early childhood" EXACT [] synonym: "Onset in first decade" EXACT [] synonym: "Onset in first decade of life" EXACT [] synonym: "Onset in first or second decade" EXACT [] synonym: "Onset in infancy or childhood" EXACT [] synonym: "Onset usually in childhood or adolescence" EXACT [] synonym: "Onset usually in first decade" EXACT [] xref: UMLS:C0001578 xref: UMLS:C0205653 xref: UMLS:C0231330 xref: UMLS:C0231335 xref: UMLS:C0332162 xref: UMLS:C0599196 xref: UMLS:C1837352 xref: UMLS:C1851422 is_a: HP:0011007 ! Age of onset [Term] id: HP:0003623 name: Neonatal onset namespace: medical_genetics 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 [] xref: UMLS:C0332162 xref: UMLS:C0935562 xref: UMLS:C1855106 is_a: HP:0003593 ! Infantile onset [Term] id: HP:0003632 name: Myotonia is most pronounced in the extremities namespace: medical_genetics xref: UMLS:C0015385 xref: UMLS:C0027125 is_a: HP:0002486 ! Myotonia [Term] id: HP:0003634 name: Generalized amyoplasia namespace: medical_genetics alt_id: HP:0008990 def: "Generalized congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue." [HPO:curators] synonym: "Congenital absence of muscles" EXACT [] xref: UMLS:C0026845 xref: UMLS:C0205246 xref: UMLS:C0332907 xref: UMLS:C1995013 is_a: HP:0001460 ! Aplasia/Hypoplasia involving the musculature [Term] id: HP:0003635 name: Loss of subcutaneous adipose tissue in limbs namespace: medical_genetics alt_id: HP:0003757 synonym: "Loss of subcutaneous adipose tissue from extremities" EXACT [] xref: UMLS:C0015385 xref: UMLS:C0222331 xref: UMLS:C1517945 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0003637 name: Reduced 4-Hydroxyphenylpyruvate dioxygenase activity namespace: medical_genetics def: "An abnormal reduction in `4-hydroxyphenylpyruvate dioxygenase activity` (GO:0003868)." [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. xref: UMLS:C0001128 xref: UMLS:C0011155 xref: UMLS:C0121300 xref: UMLS:C0162429 xref: UMLS:C0599874 xref: UMLS:C1415696 xref: UMLS:C1623416 is_a: HP:0010996 ! Abnormality of monocarboxylic acid metabolism [Term] id: HP:0003638 name: Mildly increased serum lactate namespace: medical_genetics xref: UMLS:C1843874 is_a: HP:0002151 ! Increased serum lactate [Term] id: HP:0003639 name: Increased urinary epinephrine namespace: medical_genetics xref: UMLS:C1868393 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003640 name: Foam cells in visceral organs and CNS namespace: medical_genetics xref: UMLS:C0016390 xref: UMLS:C0178784 xref: UMLS:C0442045 is_a: HP:0003651 ! Presence of foam cells [Term] id: HP:0003641 name: Hemoglobinuria namespace: medical_genetics xref: UMLS:C0019048 xref: UMLS:C1963124 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003642 name: Abnormal isoelectric focusing of serum transferrin (type 1 pattern) namespace: medical_genetics synonym: "Abnormal isoelectric focusing of serum transferrin, type i pattern" EXACT [] synonym: "Isoelectric focusing of serum transferrin consistent with cdg type i" EXACT [] xref: UMLS:C0022169 xref: UMLS:C0205161 xref: UMLS:C0332290 xref: UMLS:C0428545 xref: UMLS:C0441729 xref: UMLS:C0449774 xref: UMLS:C1318186 xref: UMLS:C2347472 is_a: HP:0003160 ! Abnormal isoelectric focusing of serum transferrin [Term] id: HP:0003643 name: Sulfite oxidase deficiency namespace: medical_genetics def: "Abnormally reduced `sulfite oxidase activity` (GO:0008482)." [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 is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism [Term] id: HP:0003645 name: Prolonged partial thromboplastin time namespace: medical_genetics synonym: "Abnormal partial thromboplastin time" EXACT [] synonym: "Delayed thromboplastin generation" EXACT [] synonym: "Partial thromboplastin time prolonged" EXACT [] synonym: "Prolonged activated partial thromboplastin time" EXACT [] synonym: "Prolonged prothrombin time" EXACT [] xref: UMLS:C0030605 xref: UMLS:C0040048 xref: UMLS:C0079411 xref: UMLS:C0151872 xref: UMLS:C0205161 xref: UMLS:C0205421 xref: UMLS:C0240671 xref: UMLS:C0439590 xref: UMLS:C1318441 xref: UMLS:C2256521 xref: UMLS:C2347472 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003646 name: Bicarbonaturia namespace: medical_genetics xref: UMLS:C1839865 is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0004360 ! Abnormality of acid-base homeostasis [Term] id: HP:0003647 name: Electron transfer flavoprotein-ubiquinone oxidoreductase defect namespace: medical_genetics xref: UMLS:C0059018 xref: UMLS:C1457869 xref: UMLS:C1861101 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003648 name: Lacticaciduria namespace: medical_genetics def: "An increased concentration of `lactic acid` (CHEBI:28358) in the urine." [HPO:probinson] is_a: HP:0003128 ! Lactic acidosis is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003649 name: Abnormality of glycoside metabolism namespace: medical_genetics def: "Abnormality of `glycoside` (CHEBI:24400) metabolism." [HPO:probinson] comment: Glycosides are molecules with a suger moiety bound to some other moiety. xref: UMLS:C0000768 xref: UMLS:C1157797 xref: UMLS:C1704258 is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis created_by: peter creation_date: 2008-03-08T08:32:00Z [Term] id: HP:0003650 name: Foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy namespace: medical_genetics xref: UMLS:C0016390 xref: UMLS:C0025255 xref: UMLS:C0026019 xref: UMLS:C0205708 xref: UMLS:C0332256 xref: UMLS:C0333941 xref: UMLS:C1549781 xref: UMLS:C1708637 xref: UMLS:C1882417 is_a: HP:0003651 ! Presence of foam cells [Term] id: HP:0003651 name: Presence of foam cells namespace: medical_genetics 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] xref: UMLS:C0016390 xref: UMLS:C0392148 is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0003652 name: Recurrent myoglobinuria namespace: medical_genetics xref: UMLS:C1838877 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003653 name: Metachromasia of white blood cells and fibroblasts namespace: medical_genetics xref: UMLS:C0016030 xref: UMLS:C0023508 xref: UMLS:C0023516 xref: UMLS:C0333936 xref: UMLS:C1550637 is_a: HP:0001881 ! Abnormality of leukocytes [Term] id: HP:0003654 name: Reduced dihydropyrimidine dehydrogenase activity namespace: medical_genetics def: "An abnormal reduction in `dihydropyrimidine dehydrogenase (NADP+) activity` (GO:0017113)." [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:C0268132 xref: UMLS:C1366555 xref: UMLS:C1959620 is_a: HP:0004353 ! Abnormality of pyrimidine metabolism [Term] id: HP:0003655 name: Reduced activity of N-acetylglucosaminyltransferase II namespace: medical_genetics def: "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)." [HPO:gcarletti] synonym: "Deficient N-acetylglucosaminyltransferase II" EXACT [] xref: UMLS:C0011155 xref: UMLS:C1636779 is_a: HP:0004367 ! Abnormality of glycoprotein metabolism [Term] id: HP:0003656 name: Decreased beta-glucocerebrosidase protein and activity namespace: medical_genetics comment: An enzyme that hydrolyzes beta-glucosides in cerebrosides. xref: UMLS:C0017768 xref: UMLS:C0033684 xref: UMLS:C0202202 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0439167 xref: UMLS:C0441655 xref: UMLS:C0600075 xref: UMLS:C1414998 xref: UMLS:C1561536 xref: UMLS:C1750295 xref: UMLS:C2362547 is_a: HP:0004344 ! Abnormality of cerebrosidase metabolism [Term] id: HP:0003657 name: Granular osmiophilic deposits (GROD) in cells namespace: medical_genetics xref: UMLS:C0007634 xref: UMLS:C0010837 xref: UMLS:C0205248 xref: UMLS:C0333562 xref: UMLS:C0333941 is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003658 name: Hypomethioninemia namespace: medical_genetics def: "A decreased concentration of `methionine` (CHEBI:16811) in the `blood` (FMA:9670)." [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:C0025646 xref: UMLS:C0032105 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C1848555 is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010901 ! Abnormality of methionine metabolism [Term] id: HP:0003660 name: Onset in utero namespace: medical_genetics alt_id: HP:0003601 def: "Intrauterine onset of signs or symptoms of disease." [HPO:probinson] comment: Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnositc procedures are performed. Thus, most congenital abnormalities are also intrauterine. synonym: "Onset in utero or at birth" EXACT [] synonym: "Prenatal onset " RELATED [HPO:curators] xref: UMLS:C0005615 xref: UMLS:C0042149 xref: UMLS:C0332162 xref: UMLS:C1550722 is_a: HP:0003577 ! Congenital onset [Term] id: HP:0003663 name: Onset in childhood or early adulthood namespace: medical_genetics synonym: "Onset in childhood or young adulthood" EXACT [] synonym: "Onset ranges from childhood to adulthood" EXACT [] xref: UMLS:C0231335 xref: UMLS:C0332162 xref: UMLS:C0680085 xref: UMLS:C0700597 xref: UMLS:C1514721 is_a: HP:0003621 ! Juvenile onset [Term] id: HP:0003664 name: Highly variable phenotype and age of onset namespace: medical_genetics xref: UMLS:C0001779 xref: UMLS:C0001792 xref: UMLS:C0332162 xref: UMLS:C1865012 is_a: HP:0003618 ! Variable age at onset [Term] id: HP:0003665 name: Amyotrophy of the musculature of the pelvis namespace: medical_genetics def: "Muscular atrophy affecting the muscles of the pelvis." [HPO:curators] xref: UMLS:C0026846 xref: UMLS:C0030797 xref: UMLS:C1279864 xref: UMLS:C1995013 is_a: HP:0008988 ! Pelvic girdle muscle atrophy created_by: peter creation_date: 2008-04-07T10:57:00Z [Term] id: HP:0003670 name: Onset usually in childhood but sometimes to middle age namespace: medical_genetics is_a: HP:0003621 ! Juvenile onset [Term] id: HP:0003671 name: Amyotrophy involving the extremities namespace: medical_genetics def: "Muscular atrophy involving the extremities." [HPO:curators] xref: UMLS:C0015385 xref: UMLS:C0026846 xref: UMLS:C1314939 is_a: HP:0003202 ! Amyotrophy is_a: HP:0009127 ! Abnormality of the musculature of the limbs created_by: peter creation_date: 2008-04-07T01:57:00Z [Term] id: HP:0003674 name: Onset namespace: medical_genetics def: "The age and speed of the first appearance of the signs or symptoms of an illness." [HPO:probinson] xref: UMLS:C0001779 xref: UMLS:C0001792 xref: UMLS:C0332162 is_a: HP:0000004 ! Onset and clinical course [Term] id: HP:0003676 name: Progressive disorder namespace: medical_genetics xref: UMLS:C1864985 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003677 name: Slow progression namespace: medical_genetics alt_id: HP:0003675 synonym: "Slow disease progression" EXACT [] synonym: "Slowly progressive" EXACT [] synonym: "Slowly progressive disorder" EXACT [] xref: UMLS:C1836301 xref: UMLS:C1836619 xref: UMLS:C1854494 xref: UMLS:C1864719 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003678 name: Rapidly progressive namespace: medical_genetics synonym: "Rapid progression" EXACT [] xref: UMLS:C1843027 xref: UMLS:C1850886 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003679 name: Pace of progression namespace: medical_genetics xref: UMLS:C0242656 xref: UMLS:C0449258 xref: UMLS:C1552930 is_a: HP:0000004 ! Onset and clinical course [Term] id: HP:0003680 name: Nonprogressive disorder namespace: medical_genetics synonym: "Nonprogressive" EXACT [] synonym: "Nonprogressive course" EXACT [] xref: UMLS:C1837116 xref: UMLS:C1842864 xref: UMLS:C1864820 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003681 name: Very slow progression namespace: medical_genetics xref: UMLS:C1847727 is_a: HP:0003677 ! Slow progression [Term] id: HP:0003682 name: Variable progression rate namespace: medical_genetics xref: UMLS:C1521828 xref: UMLS:C1549480 xref: UMLS:C1866871 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003683 name: Large beaked nose namespace: medical_genetics xref: UMLS:C0240538 xref: UMLS:C0549177 is_a: HP:0000444 ! Beaked nose [Term] id: HP:0003685 name: Nonprogressive or slowly progressive namespace: medical_genetics xref: UMLS:C1864719 xref: UMLS:C1864820 is_a: HP:0003677 ! Slow progression is_a: HP:0003680 ! Nonprogressive disorder [Term] id: HP:0003686 name: Muscle weakness, diffuse namespace: medical_genetics xref: UMLS:C0151786 xref: UMLS:C0205219 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003687 name: Centralized nuclei namespace: medical_genetics synonym: "Central nuclei" EXACT [] synonym: "Centralized sarcomeric nuclei" EXACT [] xref: UMLS:C1842170 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003688 name: Muscle biopsy shows decreased activity of cytochrome C oxidase namespace: medical_genetics synonym: "Cytochrome c oxidase deficiency in skeletal muscle" EXACT [] synonym: "Skeletal muscle biopsy shows decreased cytochrome c oxidase activity" EXACT [] xref: UMLS:C0005558 xref: UMLS:C0010760 xref: UMLS:C0037253 xref: UMLS:C0086439 xref: UMLS:C0185283 xref: UMLS:C0220797 xref: UMLS:C0242692 xref: UMLS:C0268237 xref: UMLS:C0521324 xref: UMLS:C0587033 xref: UMLS:C1280260 xref: UMLS:C1536372 xref: UMLS:C1547282 xref: UMLS:C1857357 xref: UMLS:C1876207 is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003689 name: Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions namespace: medical_genetics xref: UMLS:C0185283 xref: UMLS:C0439064 xref: UMLS:C0587033 xref: UMLS:C0948051 xref: UMLS:C1536372 xref: UMLS:C1547282 is_a: HP:0009141 ! Depletion of mitochondrial DNA in muscle tissue [Term] id: HP:0003690 name: Limb muscle weakness namespace: medical_genetics 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:C0587246 xref: UMLS:C1835991 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003691 name: Scapular winging namespace: medical_genetics alt_id: HP:0000783 synonym: "Winged scapulae" EXACT [] synonym: "Winged scapulas" EXACT [] xref: UMLS:C0240953 xref: UMLS:C1842064 is_a: HP:0000782 ! Abnormality of the scapulae is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature [Term] id: HP:0003692 name: Hip girdle muscle weakness (usually presenting symptom) namespace: medical_genetics def: "Weakness of the hip-girdle muscles." [HPO:curators] comment: The portion of this term "(usually presenting symptom)" will be deleted in the future. xref: UMLS:C0449450 xref: UMLS:C1457887 xref: UMLS:C1834660 is_a: HP:0003749 ! Pelvic girdle muscle weakness is_a: HP:0008999 ! Hip girdle muscle weakness [Term] id: HP:0003693 name: Distal amyotrophy namespace: medical_genetics alt_id: HP:0002484 alt_id: HP:0003486 alt_id: HP:0003699 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] 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:C0015385 xref: UMLS:C0016504 xref: UMLS:C0018563 xref: UMLS:C0023216 xref: UMLS:C0026845 xref: UMLS:C0026846 xref: UMLS:C0205108 xref: UMLS:C0347981 xref: UMLS:C1280090 xref: UMLS:C1282910 xref: UMLS:C1836019 xref: UMLS:C1850192 xref: UMLS:C1853928 xref: UMLS:C1864224 xref: UMLS:C1866752 xref: UMLS:C1995013 is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003694 name: Proximal muscle weakness occurs later namespace: medical_genetics def: "Lack of strength of the proximal musculature occuring late in the clinical course." [HPO:curators] xref: UMLS:C0205087 xref: UMLS:C0221629 xref: UMLS:C1709305 is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0003696 name: Absent epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0332197 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 atrophy namespace: medical_genetics xref: UMLS:C1842162 is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003698 name: Difficulty standing namespace: medical_genetics synonym: "Difficulty in standing" EXACT [] xref: UMLS:C0231472 xref: UMLS:C0241237 xref: UMLS:C1299586 is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003700 name: Generalized amyotrophy namespace: medical_genetics alt_id: HP:0009043 alt_id: HP:0009052 alt_id: HP:0009068 def: "Generalized wasting of loss of muscle tissue." [HPO:curators] synonym: "Generalized muscle atrophy" EXACT [] synonym: "Muscle atrophy, generalized" EXACT [] synonym: "Muscular atrophy, generalized" EXACT [] xref: UMLS:C0026846 xref: UMLS:C0205246 xref: UMLS:C1832674 xref: UMLS:C1864915 is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003701 name: Proximal muscle weakness namespace: medical_genetics alt_id: HP:0003432 def: "A lack of strength of the proximal muscles." [HPO:curators] synonym: "Muscle weakness, proximal" EXACT [] synonym: "Proximal limb muscle weakness" EXACT [] synonym: "Proximal limb weakness" EXACT [] xref: UMLS:C0151786 xref: UMLS:C0205107 xref: UMLS:C0221629 xref: UMLS:C0587246 xref: UMLS:C1832400 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003702 name: Neurogenic muscle atrophy namespace: medical_genetics alt_id: HP:0007171 alt_id: HP:0007356 synonym: "Muscle atrophy, neurogenic" EXACT [] synonym: "Neurogenic muscle atrophy, especially in the lower limbs" EXACT [] synonym: "Neurogenic muscular atrophy" EXACT [] xref: UMLS:C0023216 xref: UMLS:C0026846 xref: UMLS:C0270948 xref: UMLS:C1858480 is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003703 name: Calf hypertrophy namespace: medical_genetics xref: UMLS:C1843057 is_a: HP:0001430 ! Abnormality of the calf musculature [Term] id: HP:0003704 name: Scapuloperoneal weakness namespace: medical_genetics synonym: "Neurogenic scapuloperoneal syndrome" EXACT [] xref: UMLS:C0039082 xref: UMLS:C1842161 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003705 name: Muscle biopsy shows nonspecific myopathic changes namespace: medical_genetics synonym: "Nonspecific myopathy" EXACT [] xref: UMLS:C0185283 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C0587033 xref: UMLS:C0750540 xref: UMLS:C1536372 xref: UMLS:C1547282 xref: UMLS:C1705241 xref: UMLS:C1838887 is_a: HP:0003198 ! Myopathy [Term] id: HP:0003706 name: Positive staining for ATPase activity at pH of 4.3 namespace: medical_genetics xref: UMLS:C0020283 xref: UMLS:C0439178 xref: UMLS:C0450407 xref: UMLS:C0450408 xref: UMLS:C0450409 xref: UMLS:C0487602 xref: UMLS:C1148926 xref: UMLS:C1304686 xref: UMLS:C1446409 xref: UMLS:C1514241 xref: UMLS:C1704680 xref: UMLS:C2363150 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003707 name: Calf muscle pseudohypertrophy namespace: medical_genetics 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:C0036310 xref: UMLS:C0333967 xref: UMLS:C1839666 is_a: HP:0001430 ! Abnormality of the calf musculature [Term] id: HP:0003708 name: Merosin-positive biopsy namespace: medical_genetics xref: UMLS:C1843699 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003710 name: Muscle cramps with exercise namespace: medical_genetics synonym: "Exercise-induced muscle cramping" EXACT [] synonym: "Muscle cramps on exercise" EXACT [] synonym: "Muscle cramps with exertion" EXACT [] xref: UMLS:C0015259 xref: UMLS:C0015264 xref: UMLS:C0026821 xref: UMLS:C0239313 xref: UMLS:C1522704 is_a: HP:0003394 ! Muscle cramps [Term] id: HP:0003712 name: Muscle hypertrophy namespace: medical_genetics 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] synonym: "Hypertrophic muscles" EXACT [] synonym: "Muscular hypertrophy" EXACT [] xref: UMLS:C0236033 xref: UMLS:C1850647 xref: UMLS:C1865822 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003713 name: Muscle fiber necrosis namespace: medical_genetics 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 is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003714 name: Lower leg amyotrophy namespace: medical_genetics def: "Amyotrophy affecting the lower leg." [HPO:curators] xref: UMLS:C0333641 xref: UMLS:C1140621 is_a: HP:0003746 ! Amyotrophy involving the lower limbs [Term] id: HP:0003715 name: Muscle biopsy shows myofibrillar myopathy namespace: medical_genetics synonym: "Muscle biopsy shows myofibrillar changes" EXACT [] xref: UMLS:C0026848 xref: UMLS:C0185283 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C0587033 xref: UMLS:C1536372 xref: UMLS:C1547282 xref: UMLS:C1705241 is_a: HP:0003198 ! Myopathy [Term] id: HP:0003716 name: Generalized muscular appearance from birth namespace: medical_genetics xref: UMLS:C0005615 xref: UMLS:C0205246 xref: UMLS:C1550722 xref: UMLS:C1835387 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003717 name: Minimal subcutaneous fat namespace: medical_genetics xref: UMLS:C1859442 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0003719 name: Muscle mounding namespace: medical_genetics comment: Transient swelling of muscle induced by percussion. xref: UMLS:C1853702 is_a: HP:0010548 ! Percussion myotonia [Term] id: HP:0003720 name: Generalized muscle hypertrophy namespace: medical_genetics def: "Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution." [HPO:curators] xref: UMLS:C1858125 is_a: HP:0003712 ! Muscle hypertrophy [Term] id: HP:0003722 name: Neck flexor weakness namespace: medical_genetics alt_id: HP:0000469 alt_id: HP:0003722 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:C1843637 xref: UMLS:C1850579 xref: UMLS:C1864575 is_a: HP:0000467 ! Neck muscle weakness [Term] id: HP:0003723 name: Generalized muscle weakness, proximal and distal namespace: medical_genetics def: "Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature." [HPO:curators] xref: UMLS:C0205107 xref: UMLS:C0205108 xref: UMLS:C0746674 is_a: HP:0003324 ! Generalized muscle weakness [Term] id: HP:0003724 name: Shoulder girdle muscle atrophy namespace: medical_genetics 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:C0026846 xref: UMLS:C0270811 xref: UMLS:C0333641 xref: UMLS:C0427245 xref: UMLS:C0453903 xref: UMLS:C1279862 xref: UMLS:C1847766 is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0003725 name: Firm muscles namespace: medical_genetics xref: UMLS:C1850656 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003726 name: Muscle biopsy shows necrotic and atrophic fibers with centralized nuclei namespace: medical_genetics xref: UMLS:C0027540 xref: UMLS:C0185283 xref: UMLS:C0587033 xref: UMLS:C1536372 xref: UMLS:C1547282 xref: UMLS:C1842170 xref: UMLS:C1850834 is_a: HP:0003713 ! Muscle fiber necrosis [Term] id: HP:0003727 name: Tongue fasciculation/fibrillation namespace: medical_genetics def: "Fasciculations or fibrillation affecting the tongue muscle." [HPO:curators] synonym: "Tongue fasciculations/fibrillations" EXACT [] xref: UMLS:C0232197 xref: UMLS:C0239548 is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0002380 ! Fasciculations is_a: HP:0010546 ! Muscle fibrillation [Term] id: HP:0003728 name: Distal limb muscle weakness occurs later namespace: medical_genetics xref: UMLS:C0205087 xref: UMLS:C1709305 xref: UMLS:C1836526 is_a: HP:0002460 ! Distal muscle weakness is_a: HP:0003497 ! Distal limb muscle weakness [Term] id: HP:0003729 name: Enteroviral dermatomyositis syndrome namespace: medical_genetics xref: UMLS:C1844002 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003730 name: EMG shows spontaneous, repetitive electrical activity ('myotonic runs') namespace: medical_genetics synonym: "Emg shows spontaneous, repetitive electrical activity" EXACT [] xref: UMLS:C0013839 xref: UMLS:C0205341 xref: UMLS:C0205359 xref: UMLS:C0234388 xref: UMLS:C0600140 xref: UMLS:C1547282 xref: UMLS:C1547730 xref: UMLS:C1705914 xref: UMLS:C2018025 is_a: HP:0002486 ! Myotonia [Term] id: HP:0003731 name: Quadriceps muscle weakness namespace: medical_genetics def: "Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris)." [HPO:curators] synonym: "Quadriceps weakness" EXACT [] xref: UMLS:C0577655 xref: UMLS:C1842817 is_a: HP:0007340 ! Lower limb muscle weakness [Term] id: HP:0003733 name: Thigh hypertrophy namespace: medical_genetics def: "Muscle hypertrophy primarily affecting the thighs." [HPO:curators] xref: UMLS:C1846674 is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities [Term] id: HP:0003734 name: Muscle biopsy shows decreased activity of cytochrome C oxidase in most cases namespace: medical_genetics xref: UMLS:C0010760 xref: UMLS:C0086439 xref: UMLS:C0185283 xref: UMLS:C0587033 xref: UMLS:C0868928 xref: UMLS:C1533148 xref: UMLS:C1536372 xref: UMLS:C1547282 is_a: HP:0003688 ! Muscle biopsy shows decreased activity of cytochrome C oxidase [Term] id: HP:0003735 name: Decreased caveolin-3 expression on muscle biopsy namespace: medical_genetics xref: UMLS:C0185117 xref: UMLS:C0185283 xref: UMLS:C0205216 xref: UMLS:C0386312 xref: UMLS:C0392756 xref: UMLS:C0587033 xref: UMLS:C1413146 xref: UMLS:C1536372 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003736 name: Autophagic vacuoles namespace: medical_genetics xref: UMLS:C0544966 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003737 name: Mitochondrial myopathy namespace: medical_genetics xref: UMLS:C0162670 is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003738 name: Exercise-induced myalgia namespace: medical_genetics def: "The occurrence of an unusually high amount of muscle pain following exercise." [HPO:curators] 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:C0015259 xref: UMLS:C0231528 xref: UMLS:C0239313 xref: UMLS:C1522704 xref: UMLS:C1850680 xref: UMLS:C1850830 xref: UMLS:C1963177 is_a: HP:0003326 ! Myalgia [Term] id: HP:0003739 name: Myoclonic spasms namespace: medical_genetics xref: UMLS:C0037763 is_a: HP:0001336 ! Myoclonus [Term] id: HP:0003740 name: Myotonia improves with continued activity ('warm-up phenomenon') namespace: medical_genetics xref: UMLS:C0027125 xref: UMLS:C0184511 xref: UMLS:C0332161 xref: UMLS:C0332272 xref: UMLS:C0439167 xref: UMLS:C0441655 xref: UMLS:C0547043 xref: UMLS:C0549178 xref: UMLS:C0600075 xref: UMLS:C0687712 xref: UMLS:C1272745 xref: UMLS:C1282911 xref: UMLS:C1561536 xref: UMLS:C1882365 is_a: HP:0002486 ! Myotonia [Term] id: HP:0003741 name: Congenital muscular dystrophy namespace: medical_genetics xref: UMLS:C0699743 is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0003743 name: Genetic anticipation namespace: medical_genetics def: "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." [HPO:probinson] comment: This mode of inheritance is characteristic of trinucleotide and some other repeat disorders. xref: UMLS:C0600498 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0003744 name: Genetic anticipation with paternal anticipation bias namespace: medical_genetics def: "A type of `genetic anticipation` (HP:0003743) observed predominantly upon transmission from affected males." [HPO:probinson] synonym: "Paternal anticipation bias" RELATED [] xref: UMLS:C1834002 is_a: HP:0003743 ! Genetic anticipation [Term] id: HP:0003745 name: Sporadic namespace: medical_genetics xref: UMLS:C0205422 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0003746 name: Amyotrophy involving the lower limbs namespace: medical_genetics alt_id: HP:0006995 alt_id: HP:0009048 def: "Muscular atrophy involving the lower limbs." [HPO:curators] synonym: "Lower limb muscle atrophy" EXACT [] synonym: "Muscle wasting in lower limbs" EXACT [] xref: UMLS:C0023216 xref: UMLS:C0026846 xref: UMLS:C1314939 xref: UMLS:C1843318 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0003671 ! Amyotrophy involving the extremities created_by: peter creation_date: 2008-04-07T01:57:00Z [Term] id: HP:0003748 name: Amyotrophy of the thigh musculature namespace: medical_genetics alt_id: HP:0008974 def: "Muscular atrophy involving the muscles of the thigh." [HPO:curators] synonym: "Amyotrophy involving the thigh" EXACT [] synonym: "Thigh muscle atrophy" EXACT [] xref: UMLS:C0026846 xref: UMLS:C0039866 xref: UMLS:C0934110 xref: UMLS:C1281586 xref: UMLS:C1314939 xref: UMLS:C2058268 is_a: HP:0001441 ! Abnormality of the musculature of the thigh is_a: HP:0003746 ! Amyotrophy involving the lower limbs created_by: peter creation_date: 2008-04-07T01:58:00Z [Term] id: HP:0003749 name: Pelvic girdle muscle weakness namespace: medical_genetics 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:curators] synonym: "Hip girdle weakness" EXACT [] synonym: "Pelvic girdle weakness" EXACT [] xref: UMLS:C0427064 xref: UMLS:C1846673 is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003750 name: Increased muscle fatiguability namespace: medical_genetics def: "An abnormal, increased fatiguability of the musculature." [HPO:curators] synonym: "Muscle fatigue" RELATED [] xref: UMLS:C0242979 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003752 name: Flaccid weakness or paralysis, episodic attacks namespace: medical_genetics xref: UMLS:C0004093 xref: UMLS:C0231511 xref: UMLS:C0277793 xref: UMLS:C0522224 xref: UMLS:C0699795 xref: UMLS:C1261512 xref: UMLS:C1304680 xref: UMLS:C1455761 xref: UMLS:C1883552 xref: UMLS:C2364097 xref: UMLS:C2364118 is_a: HP:0010547 ! Muscle flaccidity [Term] id: HP:0003753 name: EMG: absent muscle activity at rest namespace: medical_genetics xref: UMLS:C0013790 xref: UMLS:C0013839 xref: UMLS:C0231484 xref: UMLS:C0443304 is_a: HP:0003457 ! EMG abnormalities [Term] id: HP:0003754 name: Delayed relaxation of muscle fibers after contraction namespace: medical_genetics xref: UMLS:C0026820 xref: UMLS:C0035028 xref: UMLS:C0205421 xref: UMLS:C0242697 xref: UMLS:C1140999 xref: UMLS:C1304649 is_a: HP:0002486 ! Myotonia [Term] id: HP:0003755 name: Type 1 fibers are at least 12% smaller than type 2 fibers namespace: medical_genetics def: "The presence of abnormal muscle fiber size such that type 1 fibers are at least 12% smaller than type 2 fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:curators] comment: This term needs to be revised or made obsolete, it is too imprecise. xref: UMLS:C0441729 xref: UMLS:C0441730 xref: UMLS:C0547044 xref: UMLS:C0700321 xref: UMLS:C1304649 is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003756 name: Skeletal myopathy namespace: medical_genetics xref: UMLS:C1844915 is_a: HP:0003198 ! Myopathy [Term] id: HP:0003758 name: Reduced subcutaneous adipose tissue namespace: medical_genetics def: "The presence of an abnormally reduced amount of subcutaneous adipose tissue." [HPO:curators] synonym: "Decreased subcutaneous adipose tissue" EXACT [] synonym: "Reduced subcutaneous fat" EXACT [] synonym: "Scanty adipose tissue" EXACT [] xref: UMLS:C0001527 xref: UMLS:C0222331 xref: UMLS:C0392756 xref: UMLS:C0443295 xref: UMLS:C1857657 is_a: HP:0009124 ! Abnormality of adipose tissue [Term] id: HP:0003759 name: Lymphography shows hypoplasia of lymphatic vessels namespace: medical_genetics xref: UMLS:C0024219 xref: UMLS:C0024290 xref: UMLS:C0229889 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1547282 is_a: HP:0003549 ! Abnormality of connective tissue [Term] id: HP:0003760 name: Percussion-induced rapid rolling muscle contractions (PIRC) namespace: medical_genetics xref: UMLS:C0026845 xref: UMLS:C0030987 xref: UMLS:C0205263 xref: UMLS:C0326181 xref: UMLS:C0439831 xref: UMLS:C0567116 xref: UMLS:C1880282 is_a: HP:0010548 ! Percussion myotonia [Term] id: HP:0003761 name: Calcinosis namespace: medical_genetics def: "Formation of calcium deposits in any soft tissue." [HPO:curators] xref: UMLS:C0006663 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003762 name: Uterus didelphys namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Double uterus" RELATED [] xref: UMLS:C0266393 is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0003763 name: Bruxism namespace: medical_genetics xref: UMLS:C0006325 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0003764 name: Abnormal or excess nevi namespace: medical_genetics synonym: "Abnormal nevus" EXACT [] synonym: "Nevi" EXACT [] xref: UMLS:C0027960 xref: UMLS:C0027962 xref: UMLS:C0205161 xref: UMLS:C1979886 xref: UMLS:C2347472 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0003765 name: Psoriasis namespace: medical_genetics xref: UMLS:C0033860 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0003767 name: Mental retardation if untreated namespace: medical_genetics xref: UMLS:C0025362 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0003768 name: Periodic paralysis namespace: medical_genetics synonym: "Episodic paralysis" EXACT [] xref: UMLS:C0030443 xref: UMLS:C1279412 xref: UMLS:C1848694 is_a: HP:0003470 ! Paralysis [Term] id: HP:0003769 name: All cases sporadic namespace: medical_genetics alt_id: HP:0003747 synonym: "All cases have been sporadic" EXACT [] synonym: "All reported cases sporadic" EXACT [] is_a: HP:0003745 ! Sporadic [Term] id: HP:0003771 name: Pulp stones namespace: medical_genetics xref: UMLS:C1527284 is_a: HP:0006479 ! Abnormality of the dental pulp [Term] id: HP:0003774 name: End stage renal disease namespace: medical_genetics alt_id: HP:0004733 synonym: "End stage renal failure" EXACT [] synonym: "End-stage renal disease" EXACT [] xref: UMLS:C0022661 is_a: HP:0000083 ! Renal failure [Term] id: HP:0003775 name: Mild facial asymmetry namespace: medical_genetics xref: UMLS:C1969402 is_a: HP:0000324 ! Facial asymmetry [Term] id: HP:0003777 name: Pili torti namespace: medical_genetics 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:curators] xref: UMLS:C0263491 is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0003778 name: Short mandibular rami namespace: medical_genetics alt_id: HP:0005447 synonym: "Short body and ramus of mandible" EXACT [] synonym: "Short mandibular ramus" EXACT [] synonym: "Underdeveloped mandibular rami" EXACT [] xref: UMLS:C0024687 xref: UMLS:C0222748 xref: UMLS:C0460148 xref: UMLS:C1268086 xref: UMLS:C1279059 xref: UMLS:C1551342 xref: UMLS:C1806781 xref: UMLS:C1865316 xref: UMLS:C2239125 xref: UMLS:C2350002 is_a: HP:0000347 ! Mandibular hypoplasia [Term] id: HP:0003779 name: Antegonial notching of mandible namespace: medical_genetics xref: UMLS:C0024687 xref: UMLS:C0205316 xref: UMLS:C1235660 xref: UMLS:C1279059 xref: UMLS:C2239125 is_a: HP:0010753 ! Midline defect of mandible [Term] id: HP:0003781 name: Excessive salivation namespace: medical_genetics xref: UMLS:C0037036 is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0003782 name: Eunuchoid habitus namespace: medical_genetics xref: UMLS:C0151721 is_a: HP:0010718 ! Abnormality of habitus [Term] id: HP:0003783 name: Externally rotated/abducted legs namespace: medical_genetics xref: UMLS:C0231456 xref: UMLS:C0231462 xref: UMLS:C1140621 is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0003784 name: Type 1 collagen overmodification namespace: medical_genetics xref: UMLS:C1970463 is_a: HP:0003330 ! Abnormal bone laboratory examination [Term] id: HP:0003785 name: Decreased CSF homovanillic acid (HVA) namespace: medical_genetics xref: UMLS:C0019903 xref: UMLS:C0205216 xref: UMLS:C0392756 is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid [Term] id: HP:0003787 name: Type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria namespace: medical_genetics xref: UMLS:C0017446 xref: UMLS:C0026237 xref: UMLS:C0205147 xref: UMLS:C0242873 xref: UMLS:C0311404 xref: UMLS:C0332197 xref: UMLS:C0332268 xref: UMLS:C0333764 xref: UMLS:C0439167 xref: UMLS:C0441655 xref: UMLS:C0441729 xref: UMLS:C0600075 xref: UMLS:C1561536 is_a: HP:0003789 ! Minicore (multicore) myopathy [Term] id: HP:0003788 name: Generalized muscle atrophy, proximal and distal namespace: medical_genetics def: "Generalized atrophy affecting muscles of the limbs in both proximal and distal locations." [HPO:curators] xref: UMLS:C0205107 xref: UMLS:C0205108 xref: UMLS:C1864915 is_a: HP:0003700 ! Generalized amyotrophy [Term] id: HP:0003789 name: Minicore (multicore) myopathy namespace: medical_genetics xref: UMLS:C0270962 xref: UMLS:C0333764 is_a: HP:0003198 ! Myopathy [Term] id: HP:0003790 name: Abnormal muscle fibers with amorphous, granular, or hyaline deposits namespace: medical_genetics xref: UMLS:C0010837 xref: UMLS:C0020191 xref: UMLS:C0205161 xref: UMLS:C0205248 xref: UMLS:C0242697 xref: UMLS:C0333562 xref: UMLS:C1979848 xref: UMLS:C2347472 is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies [Term] id: HP:0003791 name: Deposits immunoreactive to beta-amyloid protein namespace: medical_genetics xref: UMLS:C0078939 xref: UMLS:C0333562 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003792 name: Myotonia (usually occurs during rapid voluntary muscle movements after a period of rest) namespace: medical_genetics xref: UMLS:C0026649 xref: UMLS:C0027125 xref: UMLS:C0035253 xref: UMLS:C0242692 xref: UMLS:C0439531 xref: UMLS:C0439831 xref: UMLS:C1709305 xref: UMLS:C1948053 is_a: HP:0002486 ! Myotonia [Term] id: HP:0003793 name: Muscular dystrophy, congenital namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0026850 xref: UMLS:C1744681 is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0003794 name: Open sutures namespace: medical_genetics def: "The persistence of open (nonossified) cranial sutures (the connective tissue joining the bones of the skull) beyond age-dependent norms." [HPO:curators] xref: UMLS:C1970468 is_a: HP:0000270 ! Delayed closure of fontanelles [Term] id: HP:0003795 name: Short middle phalanges (feet) namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0347981 xref: UMLS:C1846950 is_a: HP:0004701 ! Hypoplasia of the toes [Term] id: HP:0003796 name: Irregular iliac crest namespace: medical_genetics def: "Irregularity of the iliac crest, which is the superior border of the wing of the ilium." [HPO:curators] xref: UMLS:C1855180 is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0003797 name: Limb-girdle muscle atrophy namespace: medical_genetics def: "Muscular atrophy affecting the muscles of the limb girdle." [HPO:curators] xref: UMLS:C1842552 is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003798 name: Nemaline bodies namespace: medical_genetics 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] synonym: "Muscle biopsy shows nemaline bodies (rods) on Gomori trichrome staining" EXACT [] synonym: "Nemaline rods" EXACT [] xref: UMLS:C0185283 xref: UMLS:C0206427 xref: UMLS:C0587033 xref: UMLS:C1318478 xref: UMLS:C1536372 xref: UMLS:C1547282 xref: UMLS:C1995017 is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies [Term] id: HP:0003799 name: Marked delay in bone age namespace: medical_genetics alt_id: HP:0005742 alt_id: HP:0005843 synonym: "Marked retardation in skeletal maturation" EXACT [] synonym: "Markedly retarded bone age" EXACT [] xref: UMLS:C0037253 xref: UMLS:C0205421 xref: UMLS:C0429620 xref: UMLS:C0521111 xref: UMLS:C0521324 xref: UMLS:C0522501 xref: UMLS:C0541764 xref: UMLS:C0870861 xref: UMLS:C1254042 xref: UMLS:C1706089 is_a: HP:0002750 ! Delayed skeletal maturation [Term] id: HP:0003800 name: Muscle abnormality related to mitochondrial dysfunction namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0026237 xref: UMLS:C0026845 xref: UMLS:C0031847 xref: UMLS:C0277785 xref: UMLS:C0439849 xref: UMLS:C0445223 xref: UMLS:C0521451 xref: UMLS:C1704258 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003801 name: Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions in most cases namespace: medical_genetics synonym: "Muscle biopsy shows multiple mitochondrial dna deletions in most cases" EXACT [] xref: UMLS:C0185283 xref: UMLS:C0439064 xref: UMLS:C0587033 xref: UMLS:C0868928 xref: UMLS:C0948051 xref: UMLS:C1533148 xref: UMLS:C1536372 xref: UMLS:C1547282 is_a: HP:0003689 ! Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions [Term] id: HP:0003802 name: Muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes namespace: medical_genetics xref: UMLS:C0185283 xref: UMLS:C0333348 xref: UMLS:C0333607 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C0587033 xref: UMLS:C0750540 xref: UMLS:C1536372 xref: UMLS:C1547282 xref: UMLS:C1705241 is_a: HP:0003705 ! Muscle biopsy shows nonspecific myopathic changes [Term] id: HP:0003803 name: Type 1 muscle fiber predominance namespace: medical_genetics 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:curators] synonym: "Muscle biopsy shows type 1 fiber predominance" EXACT [] synonym: "Muscle biopsy shows type I fiber predominance" EXACT [] synonym: "Type I muscle fiber predominance" EXACT [] xref: UMLS:C0185283 xref: UMLS:C0225326 xref: UMLS:C0242874 xref: UMLS:C0304068 xref: UMLS:C0332251 xref: UMLS:C0441729 xref: UMLS:C0587033 xref: UMLS:C1260603 xref: UMLS:C1304649 xref: UMLS:C1536372 xref: UMLS:C1547282 xref: UMLS:C1705208 xref: UMLS:C1854387 is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003804 name: Minicore regions are poorly defined and do not extend through entire fiber length namespace: medical_genetics xref: UMLS:C0017446 xref: UMLS:C0205147 xref: UMLS:C0205169 xref: UMLS:C0225326 xref: UMLS:C0231448 xref: UMLS:C0231449 xref: UMLS:C0304068 xref: UMLS:C0333764 xref: UMLS:C0439751 xref: UMLS:C0439792 xref: UMLS:C0444667 xref: UMLS:C1260603 xref: UMLS:C1304649 xref: UMLS:C1444754 xref: UMLS:C1518422 xref: UMLS:C1704788 xref: UMLS:C1705208 xref: UMLS:C1706316 is_a: HP:0003789 ! Minicore (multicore) myopathy [Term] id: HP:0003805 name: Rimmed vacuoles namespace: medical_genetics alt_id: HP:0009029 synonym: "'rimmed vacuoles' on biopsy" EXACT [] synonym: "'rimmed' vacuoles on biopsy" EXACT [] synonym: "Rimmed vacuoles may occur" EXACT [] xref: UMLS:C0005558 xref: UMLS:C0220797 xref: UMLS:C0333773 xref: UMLS:C1709305 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003806 name: Dystrophic changes may be present namespace: medical_genetics xref: UMLS:C0150312 xref: UMLS:C0333607 xref: UMLS:C0392747 xref: UMLS:C0449450 xref: UMLS:C1705241 is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0003808 name: Abnormal muscle tone namespace: medical_genetics xref: UMLS:C0026841 xref: UMLS:C0205161 xref: UMLS:C0549465 xref: UMLS:C2347472 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003809 name: Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) namespace: medical_genetics xref: UMLS:C0001527 xref: UMLS:C0205177 xref: UMLS:C0205197 xref: UMLS:C0205523 xref: UMLS:C0230168 xref: UMLS:C0443315 xref: UMLS:C0595836 xref: UMLS:C1630396 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0009124 ! Abnormality of adipose tissue [Term] id: HP:0003810 name: Distal muscle weakness occurs later namespace: medical_genetics xref: UMLS:C0205087 xref: UMLS:C0427065 xref: UMLS:C1709305 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0003811 name: Neonatal death namespace: medical_genetics synonym: "Neonatal lethal" EXACT [] xref: UMLS:C0410916 xref: UMLS:C1857104 is_a: HP:0003827 ! Death in neonatal period or infancy [Term] id: HP:0003812 name: Phenotypic variability namespace: medical_genetics 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: "Highly variable clinical phenotype" EXACT [] synonym: "Highly variable phenotype" EXACT [] synonym: "Highly variable phenotype and severity" EXACT [] synonym: "Highly variable phenotype, even within families" EXACT [] synonym: "Variable phenotype" EXACT [] synonym: "Variable phenotypic severity" EXACT [] xref: UMLS:C0015576 xref: UMLS:C0439793 xref: UMLS:C1837514 xref: UMLS:C1839039 xref: UMLS:C1839608 xref: UMLS:C1853719 xref: UMLS:C1865012 is_a: HP:0000004 ! Onset and clinical course [Term] id: HP:0003817 name: Death in early childhood namespace: medical_genetics xref: UMLS:C0011065 xref: UMLS:C0599196 xref: UMLS:C1306577 is_a: HP:0003819 ! Death in childhood [Term] id: HP:0003819 name: Death in childhood namespace: medical_genetics xref: UMLS:C0011065 xref: UMLS:C0231335 xref: UMLS:C1306577 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003820 name: Neonatal death frequent namespace: medical_genetics xref: UMLS:C0332183 xref: UMLS:C0410916 is_a: HP:0003811 ! Neonatal death [Term] id: HP:0003823 name: Stillborn or death in infancy namespace: medical_genetics synonym: "Stillborn or infantile death usual in prenatal form" EXACT [] xref: UMLS:C0011065 xref: UMLS:C0231330 xref: UMLS:C0749019 xref: UMLS:C1306577 is_a: HP:0001522 ! Death in infancy [Term] id: HP:0003824 name: Death in majority of infants soon after birth namespace: medical_genetics xref: UMLS:C0005615 xref: UMLS:C0011065 xref: UMLS:C0021270 xref: UMLS:C0680220 xref: UMLS:C1306577 xref: UMLS:C1550722 xref: UMLS:C1883708 is_a: HP:0003811 ! Neonatal death [Term] id: HP:0003826 name: Stillborn or neonatal death namespace: medical_genetics synonym: "Stillborn or lethal in the neonatal period" EXACT [] xref: UMLS:C0410916 xref: UMLS:C0749019 is_a: HP:0003811 ! Neonatal death [Term] id: HP:0003827 name: Death in neonatal period or infancy namespace: medical_genetics xref: UMLS:C0011065 xref: UMLS:C0231330 xref: UMLS:C0935562 xref: UMLS:C1306577 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003828 name: Variable expressivity namespace: medical_genetics 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" EXACT [] synonym: "Variable severity" EXACT [] xref: UMLS:C1836143 xref: UMLS:C1861403 xref: UMLS:C1866862 is_a: HP:0003812 ! Phenotypic variability [Term] id: HP:0003829 name: Incomplete penetrance namespace: medical_genetics 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 [] xref: UMLS:C1836598 xref: UMLS:C1842571 is_a: HP:0003812 ! Phenotypic variability [Term] id: HP:0003831 name: Age-dependent penetrance namespace: medical_genetics 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0584640 xref: UMLS:C1269052 xref: UMLS:C1704258 is_a: HP:0002992 ! Abnormality of the tibia [Term] id: HP:0003833 name: Laterally deficient tibial plateaux namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0205093 xref: UMLS:C0584640 xref: UMLS:C1269052 xref: UMLS:C1636779 is_a: HP:0003832 ! Abnormality of the tibial plateaux [Term] id: HP:0003834 name: Shoulder dislocation namespace: medical_genetics 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: UMLS:C0037005 is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003835 name: Shoulder subluxation namespace: medical_genetics def: "A partial dislocation of the shoulder joint." [HPO:curators] xref: UMLS:C0037004 xref: UMLS:C0332768 xref: UMLS:C1283792 is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003836 name: Stippled calcification of the shoulder namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0037004 xref: UMLS:C0175895 xref: UMLS:C1283792 xref: UMLS:C1533591 xref: UMLS:C1879982 xref: UMLS:C1979978 is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003837 name: Soft-tissue ossification around the shoulders namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0037004 xref: UMLS:C0225317 xref: UMLS:C1522192 is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003839 name: Abnormality involving the epiphyses of the upper limbs namespace: medical_genetics alt_id: HP:0003845 synonym: "Epihyseal plate abnormality of the upper limbs" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0005971 xref: UMLS:C0014570 xref: UMLS:C1139930 xref: UMLS:C1140618 xref: UMLS:C1314939 xref: UMLS:C1704258 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 maturation/ossification of the epiphyses of the upper limbs namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0029433 xref: UMLS:C0205421 xref: UMLS:C0870861 xref: UMLS:C1140618 xref: UMLS:C1254042 is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0003841 name: Fragmented epiphyses of the upper limbs namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0392767 xref: UMLS:C1140618 xref: UMLS:C1708096 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 namespace: medical_genetics xref: UMLS:C1140618 xref: UMLS:C1846449 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 namespace: medical_genetics xref: UMLS:C1140618 xref: UMLS:C1850632 is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003844 name: Small epiphyses of the upper limbs namespace: medical_genetics xref: UMLS:C1140618 xref: UMLS:C1846803 is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003846 name: Wide/broad epiphyseal plates of the upper limbs namespace: medical_genetics xref: UMLS:C0018283 xref: UMLS:C0332464 xref: UMLS:C1140618 is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003848 name: Cupped metaphyses of the upper limbs namespace: medical_genetics xref: UMLS:C0180231 xref: UMLS:C0222671 xref: UMLS:C0394663 xref: UMLS:C1140618 xref: UMLS:C1533124 xref: UMLS:C1552944 xref: UMLS:C1880197 is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003849 name: Flared metaphyses of the upper limbs namespace: medical_genetics xref: UMLS:C0222671 xref: UMLS:C1140618 xref: UMLS:C1517205 is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003850 name: Irregular metaphyses of the upper limbs namespace: medical_genetics xref: UMLS:C1140618 xref: UMLS:C1846448 is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003851 name: Lytic defects in metaphyses of the upper limbs namespace: medical_genetics xref: UMLS:C0024348 xref: UMLS:C0222671 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C1140618 is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003852 name: Normal density transverse bands in metaphyses of the upper limbs namespace: medical_genetics xref: UMLS:C0175723 xref: UMLS:C0205106 xref: UMLS:C0222671 xref: UMLS:C0544701 xref: UMLS:C1140618 is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003853 name: Sclerosis with transverse striations in metaphyses of the upper limbs namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0152459 xref: UMLS:C0205106 xref: UMLS:C0205364 xref: UMLS:C0222671 xref: UMLS:C1140618 xref: UMLS:C1253938 xref: UMLS:C1963160 is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs [Term] id: HP:0003854 name: Sclerosis of metaphyses of the upper limbs namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0222671 xref: UMLS:C1140618 is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003855 name: Spurred metaphyses of the upper limbs namespace: medical_genetics xref: UMLS:C0222032 xref: UMLS:C0222671 xref: UMLS:C1140618 is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003856 name: Wide/broad metaphyses of the upper limbs namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C1140618 xref: UMLS:C1854911 is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003858 name: Cortical diaphyseal irregularity of the upper limbs namespace: medical_genetics xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0205271 xref: UMLS:C0242696 xref: UMLS:C1140618 is_a: HP:0009808 ! Abnormality involving the diaphyses of the upper limbs [Term] id: HP:0003859 name: Cortical diaphyseal thickening of the upper limbs namespace: medical_genetics xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C1140618 xref: UMLS:C1835473 is_a: HP:0009808 ! Abnormality involving the diaphyses of the upper limbs [Term] id: HP:0003860 name: Diaphyseal sclerosis of the upper limbs namespace: medical_genetics xref: UMLS:C0011989 xref: UMLS:C1140618 is_a: HP:0009808 ! Abnormality involving the diaphyses of the upper limbs [Term] id: HP:0003861 name: Wide/broad diaphyses of the upper limbs namespace: medical_genetics xref: UMLS:C0242696 xref: UMLS:C0332464 xref: UMLS:C1140618 is_a: HP:0009808 ! Abnormality involving the diaphyses of the upper limbs [Term] id: HP:0003862 name: Absent ossification/absent humeri namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0029433 xref: UMLS:C0332197 xref: UMLS:C1279075 is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0006507 ! Aplasia/Hypoplasia of the humerus [Term] id: HP:0003863 name: Angulated humerus namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0205143 xref: UMLS:C0333179 xref: UMLS:C1279075 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003864 name: Bifid humerus namespace: medical_genetics def: "Clefting affecting the humerus." [HPO:curators] xref: UMLS:C0020164 xref: UMLS:C0443152 xref: UMLS:C1279075 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003865 name: Bowed humerus namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0544755 xref: UMLS:C1279075 is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0006488 ! Bowing of the arms [Term] id: HP:0003866 name: Coarse trabeculae (humeral) namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0205194 xref: UMLS:C0222660 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003867 name: Cortical irregularity (humeral) namespace: medical_genetics xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0020164 xref: UMLS:C0022655 xref: UMLS:C0205271 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) namespace: medical_genetics xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0020164 xref: UMLS:C0022655 xref: UMLS:C0205400 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) namespace: medical_genetics xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0020164 xref: UMLS:C0022655 xref: UMLS:C0332528 xref: UMLS:C0851184 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 namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C1279075 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003871 name: Deformed humerus namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0333067 xref: UMLS:C1279075 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003872 name: Exostoses (humeral) namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C1442903 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003873 name: Fractured humerus namespace: medical_genetics xref: UMLS:C0020162 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003874 name: Humerus varus namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0443345 xref: UMLS:C1279075 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003875 name: Lytic defects (humeral) namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0024348 xref: UMLS:C0243067 xref: UMLS:C0439680 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003876 name: Osteoporotic humerus namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C1279075 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003877 name: Oval transradiancy (humeral) namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C1709367 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003878 name: Periosteal new bone (humeral) namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0205314 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0442033 xref: UMLS:C0595834 xref: UMLS:C1266908 xref: UMLS:C1266909 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003879 name: Pseudarthrosis (humeral) namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0033785 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003880 name: Sclerotic foci (humeral) namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0036429 xref: UMLS:C0205234 xref: UMLS:C0334135 is_a: HP:0003881 ! Sclerosis (humeral) [Term] id: HP:0003881 name: Sclerosis (humeral) namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0036429 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003882 name: Slender humerus namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C1279075 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003883 name: Tapered humerus namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0441640 xref: UMLS:C1279075 xref: UMLS:C1548969 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003884 name: Triangular humerus namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0205119 xref: UMLS:C1279075 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003885 name: Undermodeled humerus namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C1279075 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003886 name: Wide/broad humerus namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0332464 xref: UMLS:C1279075 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003887 name: Abnormality of the humeral heads namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0223683 xref: UMLS:C1704258 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003888 name: Flattened humeral heads namespace: medical_genetics xref: UMLS:C0016203 xref: UMLS:C0223683 is_a: HP:0003887 ! Abnormality of the humeral heads [Term] id: HP:0003889 name: Abnormality of the deltoid tuberosities namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0816556 xref: UMLS:C1704258 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003890 name: Prominent deltoid tuberosities namespace: medical_genetics xref: UMLS:C0205402 xref: UMLS:C0816556 is_a: HP:0003889 ! Abnormality of the deltoid tuberosities [Term] id: HP:0003891 name: Abnormality of the humeral epiphyses namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0730410 xref: UMLS:C1704258 is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003892 name: Absent ossification/Absence of the humeral epiphyses namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0332197 xref: UMLS:C0730410 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0003891 ! Abnormality of the humeral epiphyses is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0003893 name: Advanced maturation/advanced ossification of the humeral epiphyses namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0205179 xref: UMLS:C0730410 xref: UMLS:C0870861 xref: UMLS:C1254042 is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003894 name: Delayed maturation/delayed ossification of the humeral epiphyses namespace: medical_genetics xref: UMLS:C0205421 xref: UMLS:C0730410 xref: UMLS:C0870861 xref: UMLS:C1254042 xref: UMLS:C1969348 is_a: HP:0003840 ! Delayed maturation/ossification of the epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003895 name: Flattened humeral epiphyses namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C1857527 is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003896 name: Irregular humeral epiphyses namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C1846449 is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003897 name: Irregular ossification of the humeral epiphyses namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0205271 xref: UMLS:C0730410 is_a: HP:0003891 ! Abnormality of the humeral epiphyses is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0003898 name: Large humeral epiphyses namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C1849230 is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003899 name: Round humeral epiphyses namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C1850632 is_a: HP:0003843 ! Round epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003900 name: Small humeral epiphyses namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C1846803 is_a: HP:0003844 ! Small epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003901 name: Stippled calcification of the humeral epiphyses namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C0730410 xref: UMLS:C1533591 xref: UMLS:C1879982 xref: UMLS:C1979978 is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003902 name: Stippled ossification of the humeral epiphyses namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0730410 xref: UMLS:C1979978 is_a: HP:0003891 ! Abnormality of the humeral epiphyses is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0010655 ! Stippling of the epiphyses [Term] id: HP:0003903 name: Wide/broad humeral epiphyses namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0730410 is_a: HP:0003891 ! Abnormality of the humeral epiphyses is_a: HP:0003904 ! Wide/broad epiphyses of the upper limbs [Term] id: HP:0003904 name: Wide/broad epiphyses of the upper limbs namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0332464 xref: UMLS:C1140618 is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003905 name: Abnormality of the humeral epiphyseal plate namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0018283 xref: UMLS:C0020164 xref: UMLS:C1704258 is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003906 name: Wide/broad humeral epiphyseal plate namespace: medical_genetics xref: UMLS:C0018283 xref: UMLS:C0020164 xref: UMLS:C0332464 is_a: HP:0003846 ! Wide/broad 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0824823 xref: UMLS:C1704258 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003908 name: Corner spurs (humeral metaphyses) namespace: medical_genetics xref: UMLS:C0222032 xref: UMLS:C0824823 xref: UMLS:C1879655 xref: UMLS:C1879656 is_a: HP:0003922 ! Spurred humeral metaphysis [Term] id: HP:0003909 name: Cortical subperiosteal resorption (humeral metaphyses) namespace: medical_genetics xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0231570 xref: UMLS:C0824823 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003910 name: Expanded humeral metaphyses namespace: medical_genetics xref: UMLS:C0205229 xref: UMLS:C0824823 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003911 name: Flared humeral metaphyses namespace: medical_genetics xref: UMLS:C0824823 xref: UMLS:C1517205 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003912 name: Frayed humeral metaphyses namespace: medical_genetics xref: UMLS:C0824823 xref: UMLS:C1880852 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003913 name: Irregular humeral metaphyses namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C1846448 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 namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0205271 xref: UMLS:C0824823 is_a: HP:0003907 ! Abnormality of the humeral metaphyses is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0003915 name: Lytic defects of the humeral metaphsis namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0024348 xref: UMLS:C0243067 xref: UMLS:C0439680 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) namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0175723 xref: UMLS:C0205106 xref: UMLS:C0544701 xref: UMLS:C1279075 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 namespace: medical_genetics xref: UMLS:C0824823 xref: UMLS:C1552961 xref: UMLS:C2347617 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003918 name: Sclerotic humeral metaphysis namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0334135 xref: UMLS:C0824823 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003919 name: Sclerotic humeral metaphysis with longitudinal striations namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0152459 xref: UMLS:C0205127 xref: UMLS:C0205364 xref: UMLS:C0334135 xref: UMLS:C0824823 xref: UMLS:C1253938 xref: UMLS:C1963160 is_a: HP:0003918 ! Sclerotic humeral metaphysis [Term] id: HP:0003920 name: Sloping humeral metaphysis namespace: medical_genetics xref: UMLS:C0807955 xref: UMLS:C0824823 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003921 name: Laterally sloping humeral metaphysis namespace: medical_genetics xref: UMLS:C0205093 xref: UMLS:C0807955 xref: UMLS:C0824823 is_a: HP:0003920 ! Sloping humeral metaphysis [Term] id: HP:0003922 name: Spurred humeral metaphysis namespace: medical_genetics xref: UMLS:C0222032 xref: UMLS:C0824823 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003923 name: Square humeral metaphysis namespace: medical_genetics xref: UMLS:C0205120 xref: UMLS:C0824823 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003924 name: Stippled calcification of humeral metaphysis namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C0824823 xref: UMLS:C1533591 xref: UMLS:C1879982 xref: UMLS:C1979978 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003925 name: Wide/broad humeral metaphysis namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0824823 is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003926 name: Abnormality of the humeral diaphysis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0588210 xref: UMLS:C1704258 is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0006504 ! Abnormality involving the diaphyses of the limbs [Term] id: HP:0003927 name: Cortical irregularity of humeral diaphysis namespace: medical_genetics def: "An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus." [HPO:curators] xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0205271 xref: UMLS:C0588210 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 namespace: medical_genetics xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0205400 xref: UMLS:C0588210 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 namespace: medical_genetics xref: UMLS:C0017596 xref: UMLS:C0025611 xref: UMLS:C0029053 xref: UMLS:C0588210 xref: UMLS:C1265876 xref: UMLS:C1947936 is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003930 name: Lytic defects of humeral diaphysis namespace: medical_genetics synonym: "Humeral diaphyseal lysis" EXACT [] xref: UMLS:C0024348 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C0588210 xref: UMLS:C1536403 is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003931 name: Periosteal new bone (humeral diaphysis) namespace: medical_genetics xref: UMLS:C0205314 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0442033 xref: UMLS:C0588210 xref: UMLS:C0595834 xref: UMLS:C1266908 xref: UMLS:C1266909 is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003932 name: Sclerotic foci of humeral diaphysis namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0205234 xref: UMLS:C0334135 xref: UMLS:C0588210 is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003933 name: Sclerosis of humeral diaphysis namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0588210 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 namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0588210 xref: UMLS:C1850643 is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003935 name: Wide/broad humeral diaphysis namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0588210 is_a: HP:0003861 ! Wide/broad diaphyses of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003936 name: Humeral radial synostosis namespace: medical_genetics def: "An abnormal osseous union (fusion) between the radius and the humerus." [HPO:curators] synonym: "Humeral-radial synostosis" EXACT [] synonym: "Humeroradial synostosis" EXACT [] xref: UMLS:C0431800 xref: UMLS:C1835477 is_a: HP:0003938 ! Synostosis involving the elbow [Term] id: HP:0003938 name: Synostosis involving the elbow namespace: medical_genetics xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C0039093 xref: UMLS:C0391889 xref: UMLS:C1305417 xref: UMLS:C1314939 xref: UMLS:C1368355 is_a: HP:0009811 ! Abnormality of the elbow is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0003939 name: Humeral ulnar synostosis namespace: medical_genetics def: "An abnormal osseous union (fusion) between the ulna and the humerus." [HPO:curators] xref: UMLS:C0020164 xref: UMLS:C0039093 xref: UMLS:C0391889 xref: UMLS:C0442044 xref: UMLS:C1368355 is_a: HP:0003938 ! Synostosis involving the elbow [Term] id: HP:0003940 name: Osteoarthritis of the elbow namespace: medical_genetics xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C0029408 xref: UMLS:C1305417 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003941 name: Stippled calcification of the elbow namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C0175895 xref: UMLS:C1305417 xref: UMLS:C1533591 xref: UMLS:C1879982 xref: UMLS:C1979978 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003942 name: Synovial chondromatosis of the elbow namespace: medical_genetics xref: UMLS:C0008476 xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C1305417 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003943 name: Abnormality of the joint spaces of the elbow namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C0224497 xref: UMLS:C1305417 xref: UMLS:C1704258 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003944 name: Narrow joint spaces of the elbow namespace: medical_genetics xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C1305417 xref: UMLS:C1859695 is_a: HP:0003943 ! Abnormality of the joint spaces of the elbow [Term] id: HP:0003945 name: Irregular articular surfaces of the elbow joints namespace: medical_genetics xref: UMLS:C0013770 xref: UMLS:C0205271 xref: UMLS:C1184739 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003946 name: Abnormality of the epiphyses of the elbow namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C0014570 xref: UMLS:C1305417 xref: UMLS:C1704258 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 maturation/delayed ossification of the epiphyses of the elbow namespace: medical_genetics xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C0014570 xref: UMLS:C0205421 xref: UMLS:C0870861 xref: UMLS:C1254042 xref: UMLS:C1305417 xref: UMLS:C1969348 is_a: HP:0003840 ! Delayed maturation/ossification of the epiphyses of the upper limbs is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow [Term] id: HP:0003948 name: Irregular epiphyses of the elbow namespace: medical_genetics xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C1305417 xref: UMLS:C1846449 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0825634 xref: UMLS:C1704258 is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003950 name: Flared metaphyses (elbow) namespace: medical_genetics xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C0222671 xref: UMLS:C1305417 xref: UMLS:C1517205 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) namespace: medical_genetics xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C1305417 xref: UMLS:C1846448 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 namespace: medical_genetics synonym: "Vertical linear mixed lucent and sclerotic pattern of metaphyses" EXACT [] xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C0036429 xref: UMLS:C0205128 xref: UMLS:C0205132 xref: UMLS:C0205234 xref: UMLS:C0205430 xref: UMLS:C0222671 xref: UMLS:C0334135 xref: UMLS:C1305417 xref: UMLS:C1882980 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 ossification/absent forearm bones namespace: medical_genetics synonym: "Aplasia of the forearm bones " EXACT [] xref: UMLS:C0029433 xref: UMLS:C0223680 xref: UMLS:C0243065 xref: UMLS:C0262950 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C1266909 xref: UMLS:C1408532 is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0003954 name: Angulated forearm bones namespace: medical_genetics xref: UMLS:C0205143 xref: UMLS:C0223680 xref: UMLS:C0333179 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003955 name: Bone-in-a-bone appearance (forearm) namespace: medical_genetics xref: UMLS:C0016536 xref: UMLS:C0233426 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0700364 xref: UMLS:C1266908 xref: UMLS:C1266909 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003956 name: Bowed forearm bones namespace: medical_genetics xref: UMLS:C0223680 xref: UMLS:C0544755 is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0006488 ! Bowing of the arms [Term] id: HP:0003957 name: Cortical thickening of the forearm bones namespace: medical_genetics xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0205400 xref: UMLS:C0223680 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003958 name: Cross-fusion of the forearm bones namespace: medical_genetics xref: UMLS:C0223680 xref: UMLS:C0332466 xref: UMLS:C1293131 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003959 name: Deformed forearm bones namespace: medical_genetics xref: UMLS:C0223680 xref: UMLS:C0333067 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003960 name: Exostoses of the forearm bones namespace: medical_genetics xref: UMLS:C0223680 xref: UMLS:C1442903 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003961 name: Fractured forearm bones namespace: medical_genetics xref: UMLS:C0262950 xref: UMLS:C1266909 xref: UMLS:C1305215 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003963 name: Lytic defects of the forearm bones namespace: medical_genetics xref: UMLS:C0024348 xref: UMLS:C0223680 xref: UMLS:C0243067 xref: UMLS:C0439680 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003964 name: Osteoporotic forearm bones namespace: medical_genetics xref: UMLS:C0223680 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003965 name: Pseudarthrosis of the forearm bones namespace: medical_genetics xref: UMLS:C0033785 xref: UMLS:C0223680 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003966 name: Sclerotic foci in forearm bones namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0205234 xref: UMLS:C0223680 xref: UMLS:C0334135 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003967 name: Sclerotic forearm bones namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0223680 xref: UMLS:C0334135 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003969 name: Slender forearm bones namespace: medical_genetics xref: UMLS:C0223680 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003970 name: Undermodelled forearm bones namespace: medical_genetics xref: UMLS:C0223680 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003971 name: Wide/broad forearm bones namespace: medical_genetics xref: UMLS:C0223680 xref: UMLS:C0332464 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003973 name: Wide/broad radioulnar joints namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0450209 xref: UMLS:C1456420 is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0003974 name: Absent ossification/absence of radius namespace: medical_genetics alt_id: HP:0002819 synonym: "Absent radius" EXACT [] synonym: "Aplasia of the radius" EXACT [] synonym: "Radial aplasia" EXACT [] xref: UMLS:C0029433 xref: UMLS:C0034627 xref: UMLS:C0243065 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C1279083 xref: UMLS:C1306504 xref: UMLS:C1405984 xref: UMLS:C1689985 xref: UMLS:C1838608 xref: UMLS:C2107118 is_a: HP:0003953 ! Absent ossification/absent forearm bones is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius [Term] id: HP:0003975 name: Chevron-shaped/cone-shaped radius namespace: medical_genetics xref: UMLS:C0034627 xref: UMLS:C0332479 xref: UMLS:C0443173 xref: UMLS:C0522512 xref: UMLS:C1279083 xref: UMLS:C1306504 xref: UMLS:C2350017 is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003976 name: Constricted radius namespace: medical_genetics xref: UMLS:C0034627 xref: UMLS:C1279083 xref: UMLS:C1306504 xref: UMLS:C1444778 is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003977 name: Deformed radius namespace: medical_genetics xref: UMLS:C0034627 xref: UMLS:C0333067 xref: UMLS:C1279083 xref: UMLS:C1306504 is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003978 name: Fractured radius namespace: medical_genetics xref: UMLS:C0034628 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003961 ! Fractured forearm bones [Term] id: HP:0003979 name: Lytic defects of the radius namespace: medical_genetics xref: UMLS:C0024348 xref: UMLS:C0034627 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C1279083 xref: UMLS:C1306504 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 namespace: medical_genetics xref: UMLS:C0033785 xref: UMLS:C0034627 xref: UMLS:C1279083 xref: UMLS:C1306504 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003965 ! Pseudarthrosis of the forearm bones [Term] id: HP:0003981 name: Wide/broad radius namespace: medical_genetics xref: UMLS:C0034627 xref: UMLS:C0332464 xref: UMLS:C1279083 xref: UMLS:C1306504 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003971 ! Wide/broad forearm bones [Term] id: HP:0003982 name: Absent ossification/absent ulna namespace: medical_genetics synonym: "Aplasia of the ulna" EXACT [] xref: UMLS:C0029433 xref: UMLS:C0041600 xref: UMLS:C0243065 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C1279087 xref: UMLS:C1408532 is_a: HP:0003953 ! Absent ossification/absent forearm bones is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna [Term] id: HP:0003984 name: Posteriorly dislocated ulna namespace: medical_genetics xref: UMLS:C0041600 xref: UMLS:C1265659 xref: UMLS:C1279087 xref: UMLS:C2109969 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003985 name: Exostoses of the ulna namespace: medical_genetics xref: UMLS:C0041600 xref: UMLS:C1279087 xref: UMLS:C1442903 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 namespace: medical_genetics xref: UMLS:C0034627 xref: UMLS:C1279083 xref: UMLS:C1306504 xref: UMLS:C1442903 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003960 ! Exostoses of the forearm bones [Term] id: HP:0003987 name: Fractured ulna namespace: medical_genetics xref: UMLS:C0041601 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003988 name: Long ulna namespace: medical_genetics alt_id: HP:0006435 synonym: "Disproportionately long ulnae" EXACT [] xref: UMLS:C0041600 xref: UMLS:C0205166 xref: UMLS:C1279087 xref: UMLS:C1706317 xref: UMLS:C1848108 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003989 name: Notched ulna namespace: medical_genetics xref: UMLS:C0041600 xref: UMLS:C0205316 xref: UMLS:C1279087 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003990 name: Pointed ulna namespace: medical_genetics xref: UMLS:C0041600 xref: UMLS:C1279087 xref: UMLS:C1552961 xref: UMLS:C2347617 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003991 name: Osteosclerosis of the ulna namespace: medical_genetics def: "Osteosclerosis (increased density related to increased bone mass) of the ulna." [HPO:curators] synonym: "Sclerotic ulna" EXACT [] xref: UMLS:C0029464 xref: UMLS:C0036429 xref: UMLS:C0041600 xref: UMLS:C0334135 xref: UMLS:C1279087 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003992 name: Slender ulna namespace: medical_genetics xref: UMLS:C1968814 is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003969 ! Slender forearm bones [Term] id: HP:0003993 name: Wide/broad ulna namespace: medical_genetics xref: UMLS:C0041600 xref: UMLS:C0332464 xref: UMLS:C1279087 is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003971 ! Wide/broad forearm bones [Term] id: HP:0003994 name: Dislocated wrist namespace: medical_genetics xref: UMLS:C0159941 is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003995 name: Abnormality of the radial head namespace: medical_genetics synonym: "Deformity of radial heads" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0221430 xref: UMLS:C0223696 xref: UMLS:C0302142 xref: UMLS:C1704258 xref: UMLS:C2117111 is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003996 name: Flattened radial head namespace: medical_genetics xref: UMLS:C0016203 xref: UMLS:C0223696 is_a: HP:0003995 ! Abnormality of the radial head [Term] id: HP:0003997 name: Hypoplastic radial head namespace: medical_genetics synonym: "Small radial head" EXACT [] xref: UMLS:C0223696 xref: UMLS:C0424688 xref: UMLS:C0442038 xref: UMLS:C0543481 xref: UMLS:C0700321 xref: UMLS:C0920847 is_a: HP:0003995 ! Abnormality of the radial head [Term] id: HP:0003998 name: Constricted radial neck namespace: medical_genetics xref: UMLS:C0223697 xref: UMLS:C1444778 is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003999 name: Abnormality of radial epiphyses namespace: medical_genetics alt_id: HP:0004011 synonym: "Abnormality of radial epiphyseal plates" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0018283 xref: UMLS:C0442038 xref: UMLS:C0730411 xref: UMLS:C0920847 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0332479 xref: UMLS:C0442038 xref: UMLS:C0443173 xref: UMLS:C0522512 xref: UMLS:C0920847 xref: UMLS:C1865037 is_a: HP:0003999 ! Abnormality of radial epiphyses is_a: HP:0010579 ! Cone-shaped epiphyses [Term] id: HP:0004001 name: Medially deficient radial epiphyses namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0205098 xref: UMLS:C0730411 xref: UMLS:C1636779 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004002 name: Flattened radial epiphyses namespace: medical_genetics xref: UMLS:C0442038 xref: UMLS:C0920847 xref: UMLS:C1857527 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004003 name: Medially flattened radial epiphyses namespace: medical_genetics xref: UMLS:C0205098 xref: UMLS:C0442038 xref: UMLS:C0920847 xref: UMLS:C1857527 is_a: HP:0004002 ! Flattened radial epiphyses [Term] id: HP:0004004 name: Irregular radial epiphyses namespace: medical_genetics xref: UMLS:C0442038 xref: UMLS:C0920847 xref: UMLS:C1846449 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004005 name: Large radial epiphyses namespace: medical_genetics xref: UMLS:C0442038 xref: UMLS:C0920847 xref: UMLS:C1849230 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004006 name: Round radial epiphyses namespace: medical_genetics xref: UMLS:C0442038 xref: UMLS:C0920847 xref: UMLS:C1850632 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004007 name: Sclerotic radial epiphyses namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0334135 xref: UMLS:C0730411 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004008 name: Sloping radial epiphyses namespace: medical_genetics xref: UMLS:C0730411 xref: UMLS:C0807955 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004009 name: Medially sloping radial epiphyses namespace: medical_genetics xref: UMLS:C0205098 xref: UMLS:C0730411 xref: UMLS:C0807955 is_a: HP:0004008 ! Sloping radial epiphyses [Term] id: HP:0004010 name: Small radial epiphyses namespace: medical_genetics xref: UMLS:C0442038 xref: UMLS:C0920847 xref: UMLS:C1846803 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004012 name: Premature fusion of the radial epiphyseal plates namespace: medical_genetics 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). xref: UMLS:C0018283 xref: UMLS:C0442038 xref: UMLS:C0699952 xref: UMLS:C0920847 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004013 name: Medially fused radial epiphyseal plates namespace: medical_genetics xref: UMLS:C0018283 xref: UMLS:C0205098 xref: UMLS:C0442038 xref: UMLS:C0699952 xref: UMLS:C0920847 is_a: HP:0004012 ! Premature fusion of the radial epiphyseal plates [Term] id: HP:0004014 name: Wide/broad radial epiphyseal plates namespace: medical_genetics xref: UMLS:C0018283 xref: UMLS:C0332464 xref: UMLS:C0442038 xref: UMLS:C0920847 is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004015 name: Abnormality of radial metaphyses namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0825650 xref: UMLS:C1704258 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0004016 name: Cupped radial metaphyses namespace: medical_genetics xref: UMLS:C0180231 xref: UMLS:C0394663 xref: UMLS:C0825650 xref: UMLS:C1533124 xref: UMLS:C1552944 xref: UMLS:C1880197 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 namespace: medical_genetics xref: UMLS:C0825650 xref: UMLS:C1442903 is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004018 name: Flared radial metaphyses namespace: medical_genetics xref: UMLS:C0825650 xref: UMLS:C1517205 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 namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C0825650 is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004020 name: Irregular ossification of the radial metaphysis namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0205271 xref: UMLS:C0825650 is_a: HP:0004015 ! Abnormality of radial metaphyses is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0004021 name: Lytic defects of radial metaphysis namespace: medical_genetics xref: UMLS:C0024348 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C0825650 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 namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0152459 xref: UMLS:C0205127 xref: UMLS:C0205364 xref: UMLS:C0334135 xref: UMLS:C0825650 xref: UMLS:C1253938 xref: UMLS:C1963160 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 namespace: medical_genetics xref: UMLS:C0807955 xref: UMLS:C0825650 is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004024 name: Medially sloping radial metaphysis namespace: medical_genetics xref: UMLS:C0205098 xref: UMLS:C0807955 xref: UMLS:C0825650 is_a: HP:0004023 ! Sloping radial metaphysis [Term] id: HP:0004025 name: Spurred radial metaphysis namespace: medical_genetics xref: UMLS:C0222032 xref: UMLS:C0825650 is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004026 name: Wide/broad radial metaphysis namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0825650 is_a: HP:0003856 ! Wide/broad metaphyses of the upper limbs is_a: HP:0003981 ! Wide/broad radius is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004027 name: Abnormality of radial diaphysis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0588208 xref: UMLS:C1704258 is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0006504 ! Abnormality involving the diaphyses of the limbs [Term] id: HP:0004028 name: Spurs of radial diaphysis namespace: medical_genetics xref: UMLS:C0222032 xref: UMLS:C0588208 is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004029 name: Lytic defects of radial diaphysis namespace: medical_genetics xref: UMLS:C0024348 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C0588208 is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004030 name: Patchy sclerosis of radial diaphysis namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0588208 is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004031 name: Wide/broad radial diapyhsis namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0442038 xref: UMLS:C0920847 is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004032 name: Abnormality of the olecranon namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0223710 xref: UMLS:C1704258 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0004033 name: Curved olecranon namespace: medical_genetics xref: UMLS:C0205134 xref: UMLS:C0223710 is_a: HP:0004032 ! Abnormality of the olecranon [Term] id: HP:0004034 name: Irregular olecranon namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C0223710 is_a: HP:0004032 ! Abnormality of the olecranon [Term] id: HP:0004035 name: Abnormality of the styloid process namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1184743 xref: UMLS:C1522240 xref: UMLS:C1704258 xref: UMLS:C1951340 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0004036 name: Long styloid process namespace: medical_genetics xref: UMLS:C0205166 xref: UMLS:C1184743 xref: UMLS:C1522240 xref: UMLS:C1706317 xref: UMLS:C1951340 is_a: HP:0004035 ! Abnormality of the styloid process [Term] id: HP:0004037 name: Abnormality of the ulnar epiphyses namespace: medical_genetics synonym: "Abnormality of the epiphyseal plate of the ulna" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0018283 xref: UMLS:C0041600 xref: UMLS:C0730412 xref: UMLS:C1279087 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0018283 xref: UMLS:C0442044 xref: UMLS:C0443157 is_a: HP:0004037 ! Abnormality of the ulnar epiphyses [Term] id: HP:0004039 name: Abnormality of ulnar metaphysis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0825634 xref: UMLS:C1704258 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0004040 name: Corner fragments of ulnar metaphysis namespace: medical_genetics xref: UMLS:C0486805 xref: UMLS:C0825634 xref: UMLS:C1879655 xref: UMLS:C1879656 is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004041 name: Cupped ulnar metaphysis namespace: medical_genetics xref: UMLS:C0180231 xref: UMLS:C0394663 xref: UMLS:C0825634 xref: UMLS:C1533124 xref: UMLS:C1552944 xref: UMLS:C1880197 is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004042 name: Irregular ulnar metaphysis namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C0825634 is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004043 name: Lytic defects of ulnar metaphysis namespace: medical_genetics xref: UMLS:C0024348 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C0825634 is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004044 name: Pointed ulnar metaphysis namespace: medical_genetics xref: UMLS:C0825634 xref: UMLS:C1552961 xref: UMLS:C2347617 is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004045 name: Sloping ulnar metaphysis namespace: medical_genetics def: "A sloped configuration of the metaphysis (shaft) of the ulna." [HPO:curators] xref: UMLS:C0807955 xref: UMLS:C0825634 is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004046 name: Spurred ulnar metaphysis namespace: medical_genetics xref: UMLS:C0222032 xref: UMLS:C0825634 is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004047 name: Wide/broad ulnar metaphysis namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0825634 is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004048 name: Narrow joint spaces of wrist namespace: medical_genetics xref: UMLS:C0043262 xref: UMLS:C1283836 xref: UMLS:C1322271 xref: UMLS:C1859695 is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0004049 name: Decreased carpal angles of wrist namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0043262 xref: UMLS:C0544764 xref: UMLS:C1283836 xref: UMLS:C1322271 is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0004050 name: Absent hands namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0332197 is_a: HP:0005927 ! Aplasia/Hypoplasia involving bones of the hand [Term] id: HP:0004051 name: Advanced maturation/advanced ossification of the hand bones namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0205179 xref: UMLS:C0448064 xref: UMLS:C0870861 xref: UMLS:C1254042 is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004052 name: Delayed maturation/delayed ossification of the hand bones namespace: medical_genetics synonym: "Delay maturation/delayed ossification of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0205421 xref: UMLS:C0448064 xref: UMLS:C0870861 xref: UMLS:C1254042 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1969348 is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004053 name: Dysharmonic maturation of the hand bones namespace: medical_genetics xref: UMLS:C0448064 xref: UMLS:C0870861 xref: UMLS:C1254042 is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004054 name: Sclerosis of hand bones namespace: medical_genetics alt_id: HP:0004055 def: "Osteosclerosis affecting one or more bones of the hand." [HPO:curators] synonym: "Generalized sclerosis of hand bones" EXACT [] synonym: "Hand bone sclerosis " EXACT [] xref: UMLS:C0036429 xref: UMLS:C0448064 xref: UMLS:C1859152 is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0004057 name: Mitten deformity namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0221430 xref: UMLS:C0302142 xref: UMLS:C0453955 xref: UMLS:C2117111 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004058 name: Monodactyly namespace: medical_genetics is_a: HP:0001180 ! Oligodactyly (hands) [Term] id: HP:0004059 name: Radial club hand namespace: medical_genetics xref: UMLS:C0221096 xref: UMLS:C0442038 xref: UMLS:C0597480 xref: UMLS:C0920847 is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius is_a: HP:0009486 ! Radial deviation of the hand [Term] id: HP:0004060 name: Trident abnormality namespace: medical_genetics 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. This abnormality is often seen in patients with achondroplasia." [HPO:curators] synonym: "trident deformity" EXACT [] synonym: "trident hand" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0221430 xref: UMLS:C0302142 xref: UMLS:C0426874 xref: UMLS:C1414685 xref: UMLS:C1704258 xref: UMLS:C2117111 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004066 name: Laterally deviated thumb phalanges namespace: medical_genetics is_obsolete: true [Term] id: HP:0004083 name: Laterally deviated terminal thumb phalanx namespace: medical_genetics is_obsolete: true [Term] id: HP:0004090 name: Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis namespace: medical_genetics is_obsolete: true [Term] id: HP:0004095 name: Curved fingers namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0549188 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004097 name: Deviated fingers namespace: medical_genetics 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: "Deviation of terminal phalanges" EXACT [] xref: UMLS:C0012727 xref: UMLS:C0016129 xref: UMLS:C0205419 xref: UMLS:C0549188 xref: UMLS:C0576464 xref: UMLS:C1705236 is_a: HP:0001167 ! Abnormality of the fingers is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand [Term] id: HP:0004099 name: Macrodactyly namespace: medical_genetics synonym: "Finger overgrowth" EXACT [HPO:sdoelken] xref: UMLS:C0016129 xref: UMLS:C0265552 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1849265 xref: UMLS:C2117323 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004100 name: Abnormality of the 2nd finger namespace: medical_genetics synonym: "Abnormality of index finger" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0230388 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004110 name: Radially deviated index finger phalanges namespace: medical_genetics alt_id: HP:0004111 synonym: "Radially displaced index finger phalanges" EXACT [] is_obsolete: true [Term] id: HP:0004112 name: Midline nasal groove namespace: medical_genetics def: "An abnormal groove on the midline of the nose that may extend to the nasal tip." [HPO:curators] xref: UMLS:C0028429 xref: UMLS:C0521140 xref: UMLS:C1855909 is_a: HP:0004122 ! Midline defect of the nose created_by: peter creation_date: 2009-01-21T04:59:08Z [Term] id: HP:0004121 name: Radially displaced proximal index finger phalanx namespace: medical_genetics is_obsolete: true [Term] id: HP:0004122 name: Midline defect of the nose namespace: medical_genetics 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:curators] synonym: "Bifid nose" EXACT [] synonym: "Bifid nose, midline groove, or dimple on nasal tip" RELATED [] xref: UMLS:C0028429 xref: UMLS:C0221363 xref: UMLS:C0225409 xref: UMLS:C0332471 xref: UMLS:C0549183 xref: UMLS:C1278896 xref: UMLS:C1457869 xref: UMLS:C1660780 xref: UMLS:C1855909 xref: UMLS:C1861101 is_a: HP:0000436 ! Abnormality of the nasal tip 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 namespace: medical_genetics def: "An abnormal indentation of the skin in the region of the nasal tip." [HPO:curators] xref: UMLS:C0225409 xref: UMLS:C0332471 is_a: HP:0004122 ! Midline defect of the nose created_by: peter creation_date: 2009-01-21T05:05:55Z [Term] id: HP:0004138 name: Metaphyseal abnormality of middle phalanx of the 2nd finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004139 name: Flared metaphysis of middle phalanx of index finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004143 name: Radially deviated terminal index finger phalanx namespace: medical_genetics is_obsolete: true [Term] id: HP:0004144 name: Duplication of terminal index finger phalanx namespace: medical_genetics is_obsolete: true [Term] id: HP:0004150 name: Abnormality of the 3rd finger namespace: medical_genetics synonym: "Abnormality of the middle finger" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0230393 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1305276 xref: UMLS:C1704258 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004153 name: Overgrowth of middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004157 name: Accessory middle-finger phalanges namespace: medical_genetics is_obsolete: true [Term] id: HP:0004161 name: Periosteal new bone of middle finger phalanges namespace: medical_genetics is_obsolete: true [Term] id: HP:0004162 name: Radially pointed middle finger phalanges namespace: medical_genetics is_obsolete: true [Term] id: HP:0004168 name: Radially pointed proximal middle-finger phalanx namespace: medical_genetics is_obsolete: true [Term] id: HP:0004172 name: Abnormality of the middle phalanx of the 3rd finger namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger [Term] id: HP:0004174 name: Accessory middle phalanx of middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004175 name: Periosteal new bone of middle phalanx of middle-finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004180 name: Hypoplastic/small distal phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004182 def: "Hypoplastic/small distal phalanx of the 3rd (middle) finger." [HPO:curators] synonym: "Short terminal phalanx of middle finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0230393 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C0700321 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1305276 xref: UMLS:C1850198 is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger is_a: HP:0009461 ! Hypoplastic/small 3rd finger is_a: HP:0009882 ! Hypoplasia of the distal phalanges of the hand [Term] id: HP:0004183 name: Abnormality of the epiphyses of the terminal phalanx of the middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004184 name: Cone-shaped epiphysis of terminal phalanx of the middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004185 name: Fused epiphysis of terminal phalanx of the middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004186 name: Large epiphysis of terminal phalanx of the middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004187 name: Prematurely fused epiphysis of terminal phalanx of the middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004188 name: Abnormality of the 4th finger namespace: medical_genetics synonym: "Abnormality of the ring finger" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0230398 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1521759 xref: UMLS:C1704258 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004192 name: Bracket epiphyses of the 4th finger namespace: medical_genetics 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 [Term] id: HP:0004193 name: Expanded phalanges of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004194 name: Hypoplastic phalanges of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004195 name: Osteolytic defects of the phalanges of the 4th finger namespace: medical_genetics def: "Osteolytic defects of the phalanges of the 4th (ring) finger." [HPO:curators] synonym: "Lytic defects of the phalanges of the ring finger" RELATED [] xref: UMLS:C0016129 xref: UMLS:C0024348 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0230398 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1518633 xref: UMLS:C1521759 is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009699 ! Osteolytic defects of the hand bones is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand [Term] id: HP:0004196 name: Short phalanges of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004197 name: Symphalangism of the 4th finger namespace: medical_genetics def: "Fusion of two or more bones of the 4th finger." [HPO:curators] synonym: "Symphalangism of the ring finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205438 xref: UMLS:C0230398 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1521759 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: Wide/broad phalanges of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004201 name: Expanded proximal phalanx of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004202 name: Lytic defects of the proximal phalanx of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004203 name: Short proximal phalanx of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004207 name: Abnormality of the 5th finger namespace: medical_genetics def: "An abnormality affecting one or both 5th fingers." [HPO:sdoelken] synonym: "Abnormality of the little finger" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004209 name: Clinodactyly of the 5th finger namespace: medical_genetics alt_id: HP:0001158 alt_id: HP:0004212 alt_id: HP:0009181 def: "Clinodactyly refers to a bending or curvature of the `fifth finger` (FMA:24949) in the radial direction (i.e., towards the 4th finger)." [HPO:curators] 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 [] synonym: "Radial deviation of the 5th finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0265610 xref: UMLS:C0449751 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1850049 xref: UMLS:C1857528 is_a: HP:0009179 ! Deviation of the 5th finger is_a: HP:0009466 ! Radial deviation of fingers [Term] id: HP:0004213 name: Abnormality of the phalanges of the 5th finger namespace: medical_genetics def: "Abnormality of the phalanges of the 5th (little) finger." [HPO:sdoelken] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 is_a: HP:0004207 ! Abnormality of the 5th finger [Term] id: HP:0004214 name: Curved phalanges of the 5th finger namespace: medical_genetics def: "Curved phalanges of the 5th (little) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0024348 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0230403 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1518633 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009699 ! Osteolytic defects of the hand bones is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand [Term] id: HP:0004218 name: Symphalangism of the 5th finger namespace: medical_genetics def: "Fusion of two or more bones of the 5th finger." [HPO:curators] synonym: "Symphalagism of the little finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger [Term] id: HP:0004220 name: Hypoplastic/small middle phalanx of the 5th finger namespace: medical_genetics alt_id: HP:0001243 alt_id: HP:0003069 alt_id: HP:0004221 def: "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger." [HPO:curators] 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/small middle phalanx of the little finger" EXACT [] synonym: "Short middle phalanx of the 5th finger" EXACT [] synonym: "Short middle phalanx of the little finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0543481 xref: UMLS:C0576463 xref: UMLS:C0700321 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1839317 xref: UMLS:C1846950 xref: UMLS:C1849342 xref: UMLS:C1860797 xref: UMLS:C1861372 is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger is_a: HP:0009237 ! Hypoplastic/small 5th finger is_a: HP:0010240 ! Hypoplasia of the middle phalanges of the hand [Term] id: HP:0004222 name: Cone-shaped epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 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 namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics 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 [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger [Term] id: HP:0004226 name: Curved distal phalanx of the 5th finger namespace: medical_genetics def: "Curved appearance of the distal phalanx of the 5th (little) finger." [HPO:curators] synonym: "Curved terminal phalanx of the little finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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: Hypoplastic/small distal phalanx of the 5th finger namespace: medical_genetics def: "Hypoplastic/small distal phalanx of the 5th (little) finger." [HPO:curators] synonym: "Brachytelophalangism V" EXACT [] synonym: "Hypo/aplasia of terminal fifth digits" EXACT [] synonym: "Hypoplastic/small terminal phalanx of the little finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205088 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0243065 xref: UMLS:C0333912 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C0700321 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705314 xref: UMLS:C1705315 is_a: HP:0009237 ! Hypoplastic/small 5th finger is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger is_a: HP:0009882 ! Hypoplasia of the distal phalanges of the hand [Term] id: HP:0004230 name: Subluxation of the proximal interphalangeal joint of the little finger namespace: medical_genetics def: "A partial dislocation of the proximal interphalangeal joint of the little finger." [HPO:sdoelken] xref: UMLS:C0230403 xref: UMLS:C0332768 xref: UMLS:C0932508 is_a: HP:0004207 ! Abnormality of the 5th finger [Term] id: HP:0004231 name: Absent carpal bones/absent ossification of the carpal bones namespace: medical_genetics synonym: "Absent carpal bones" EXACT [] xref: UMLS:C0007285 xref: UMLS:C0029433 xref: UMLS:C0332197 xref: UMLS:C1836219 is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones [Term] id: HP:0004232 name: Accessory carpal bones namespace: medical_genetics def: "The presence of more than the normal number of carpal bones." [HPO:curators] synonym: "Supernumerary carpal bones" EXACT [] xref: UMLS:C0265609 is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0004275 ! Duplication of hand bones [Term] id: HP:0004233 name: Advanced maturation/advanced ossification of carpal bones namespace: medical_genetics alt_id: HP:0006104 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:C0007285 xref: UMLS:C0029433 xref: UMLS:C0205179 xref: UMLS:C0545053 xref: UMLS:C0870861 xref: UMLS:C1254042 xref: UMLS:C1322271 xref: UMLS:C1849292 xref: UMLS:C1857116 xref: UMLS:C1859156 is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0004234 name: Bone-in-a-bone appearance of carpal bones namespace: medical_genetics 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] xref: UMLS:C0007285 xref: UMLS:C0233426 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0700364 xref: UMLS:C1266908 xref: UMLS:C1266909 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 namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0332479 xref: UMLS:C0522512 is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004236 name: Irregular carpal bones namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0205271 is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004237 name: Large carpal bones namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0549177 is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004238 name: Lytic defects of carpal bones namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0024348 xref: UMLS:C0243067 xref: UMLS:C0439680 is_a: HP:0001495 ! Carpal osteolysis [Term] id: HP:0004239 name: Proximally placed carpal bones namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0205107 xref: UMLS:C0442504 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004240 name: Sclerotic foci within carpal bones namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0036429 xref: UMLS:C0205234 xref: UMLS:C0334135 is_a: HP:0009164 ! Abnormal calcification of the carpal bones is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0004241 name: Stippled calcification in carpal bones namespace: medical_genetics alt_id: HP:0006177 def: "Point-shaped (punctate) calcifications affecting the carpal bones." [HPO:curators] synonym: "Punctate calcifications of carpals" EXACT [] xref: UMLS:C0006660 xref: UMLS:C0007285 xref: UMLS:C0175895 xref: UMLS:C1265883 xref: UMLS:C1321634 xref: UMLS:C1322271 xref: UMLS:C1533591 xref: UMLS:C1879982 xref: UMLS:C1979978 is_a: HP:0009164 ! Abnormal calcification of the carpal bones is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0004242 name: Wide/broad carpal bones namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0332464 is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004243 name: Abnormality of the scaphoid namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0223724 xref: UMLS:C0332500 xref: UMLS:C1306528 xref: UMLS:C1704258 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004244 name: Accessory scaphoid namespace: medical_genetics xref: UMLS:C0223724 xref: UMLS:C0332500 xref: UMLS:C1306528 is_a: HP:0004232 ! Accessory carpal bones is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0004245 name: Comma-shaped scaphoid namespace: medical_genetics xref: UMLS:C0223724 xref: UMLS:C0332479 xref: UMLS:C0332500 xref: UMLS:C0522512 xref: UMLS:C1306528 is_a: HP:0004235 ! Comma-shaped carpal bones is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0004246 name: Delayed maturation/delayed ossification of the scaphoid namespace: medical_genetics xref: UMLS:C0205421 xref: UMLS:C0223724 xref: UMLS:C0332500 xref: UMLS:C0870861 xref: UMLS:C1254042 xref: UMLS:C1306528 xref: UMLS:C1969348 is_a: HP:0001216 ! Delayed maturation/delayed ossification of carpal bones is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0004247 name: Small scaphoid namespace: medical_genetics xref: UMLS:C0223724 xref: UMLS:C0332500 xref: UMLS:C0700321 xref: UMLS:C1306528 is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0004248 name: Abnormality of the lunate bone namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0036624 xref: UMLS:C1704258 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004249 name: Accessory lunate namespace: medical_genetics xref: UMLS:C0036624 xref: UMLS:C1305897 is_a: HP:0004232 ! Accessory carpal bones is_a: HP:0004248 ! Abnormality of the lunate bone [Term] id: HP:0004250 name: Proximally placed lunate namespace: medical_genetics xref: UMLS:C0036624 xref: UMLS:C0205107 xref: UMLS:C0442504 xref: UMLS:C1305897 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 namespace: medical_genetics xref: UMLS:C0036624 xref: UMLS:C0223739 xref: UMLS:C0332466 xref: UMLS:C1269063 xref: UMLS:C1293131 xref: UMLS:C1305897 is_a: HP:0004248 ! Abnormality of the lunate bone [Term] id: HP:0004252 name: Abnormality of the trapezium namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0223736 xref: UMLS:C1306478 xref: UMLS:C1704258 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004253 name: Absent trapezium/absent ossification of the trapezium namespace: medical_genetics synonym: "Absent trapezium bone" EXACT [] xref: UMLS:C0029433 xref: UMLS:C0223736 xref: UMLS:C0332197 xref: UMLS:C1306478 xref: UMLS:C1847190 is_a: HP:0004252 ! Abnormality of the trapezium is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0004254 name: Delayed maturation/delayed ossification of the trapezium namespace: medical_genetics xref: UMLS:C0205421 xref: UMLS:C0223736 xref: UMLS:C0870861 xref: UMLS:C1254042 xref: UMLS:C1306478 xref: UMLS:C1969348 is_a: HP:0001216 ! Delayed maturation/delayed ossification of carpal bones is_a: HP:0004252 ! Abnormality of the trapezium [Term] id: HP:0004255 name: Small trapezium namespace: medical_genetics xref: UMLS:C0223736 xref: UMLS:C0700321 xref: UMLS:C1306478 is_a: HP:0004252 ! Abnormality of the trapezium [Term] id: HP:0004256 name: Abnormality of the trapezoid bone namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0223741 xref: UMLS:C1704258 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004257 name: Delayed maturation/delayed ossification of the trapezoid bone namespace: medical_genetics xref: UMLS:C0205421 xref: UMLS:C0223741 xref: UMLS:C0870861 xref: UMLS:C1254042 xref: UMLS:C1969348 is_a: HP:0001216 ! Delayed maturation/delayed ossification of carpal bones is_a: HP:0004256 ! Abnormality of the trapezoid bone [Term] id: HP:0004258 name: Small trapezoid bone namespace: medical_genetics xref: UMLS:C0223741 xref: UMLS:C0700321 is_a: HP:0004256 ! Abnormality of the trapezoid bone [Term] id: HP:0004259 name: Abnormality of the hamate bone namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0560737 xref: UMLS:C1704258 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004260 name: Large hamate bone namespace: medical_genetics xref: UMLS:C0549177 xref: UMLS:C0560737 is_a: HP:0004259 ! Abnormality of the hamate bone [Term] id: HP:0004261 name: Wide/broad hamate bone namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0560737 is_a: HP:0004259 ! Abnormality of the hamate bone [Term] id: HP:0004262 name: Abnormality of the capitate bone namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0223733 xref: UMLS:C1704258 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004263 name: Large capitate bone namespace: medical_genetics xref: UMLS:C0223733 xref: UMLS:C0549177 is_a: HP:0004262 ! Abnormality of the capitate bone [Term] id: HP:0004264 name: Narrow carpal joint spaces namespace: medical_genetics alt_id: HP:0004265 synonym: "Decreased carpal joint angles" EXACT [] xref: UMLS:C0007285 xref: UMLS:C0224497 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C0544764 xref: UMLS:C1262468 xref: UMLS:C1322271 xref: UMLS:C1883067 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004267 name: Narrow small joints of the hand namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0022417 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C0392905 xref: UMLS:C0700321 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0004268 name: Osteoarthritis of the small joints of the hand namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0022417 xref: UMLS:C0029408 xref: UMLS:C0392905 xref: UMLS:C0700321 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0004269 name: Subluxation of the small joints of the hand namespace: medical_genetics def: "A partial dislocation of some or all of the small joints of the hand." [HPO:curators] xref: UMLS:C0018563 xref: UMLS:C0022417 xref: UMLS:C0332768 xref: UMLS:C0392905 xref: UMLS:C0700321 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0004271 name: Cortical thickening of hand bones namespace: medical_genetics xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0205400 xref: UMLS:C0448064 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 namespace: medical_genetics xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0332528 xref: UMLS:C0448064 xref: UMLS:C0851184 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 namespace: medical_genetics xref: UMLS:C0180231 xref: UMLS:C0222671 xref: UMLS:C0394663 xref: UMLS:C0448064 xref: UMLS:C1533124 xref: UMLS:C1552944 xref: UMLS:C1880197 is_a: HP:0005923 ! Abnormalities of the metaphyses of the hand [Term] id: HP:0004274 name: Deficient ossification of hand bones namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0029433 xref: UMLS:C0448064 xref: UMLS:C1636779 is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004275 name: Duplication of hand bones namespace: medical_genetics xref: UMLS:C0332597 xref: UMLS:C0448064 xref: UMLS:C1705960 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 namespace: medical_genetics def: "Abnormal formation of new bone on the surface of a bone of the hand." [HPO:curators] xref: UMLS:C0448064 xref: UMLS:C1442903 is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0004277 name: Fractured hand bones namespace: medical_genetics xref: UMLS:C0016658 xref: UMLS:C0262950 xref: UMLS:C0435632 xref: UMLS:C0448064 xref: UMLS:C1266909 is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0004278 name: Synostosis involving bones of the hand namespace: medical_genetics def: "An abnormal union between bones or parts of bones of the hand." [HPO:sdoelken] synonym: "Fused hand bones" RELATED [] xref: UMLS:C0018563 xref: UMLS:C0039093 xref: UMLS:C0262950 xref: UMLS:C0391889 xref: UMLS:C0448064 xref: UMLS:C0699952 xref: UMLS:C1266909 xref: UMLS:C1281583 xref: UMLS:C1314939 xref: UMLS:C1368355 xref: UMLS:C1552914 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0004279 name: Hypoplastic hand namespace: medical_genetics alt_id: HP:0001165 def: "Underdevelopment of the `hand` (FMA:9712)." [HPO:probinson] synonym: "Short hands" EXACT [] synonym: "Small hands" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0543481 xref: UMLS:C0575802 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1843108 is_a: HP:0005927 ! Aplasia/Hypoplasia involving bones of the hand [Term] id: HP:0004280 name: Irregular ossification of hand bones namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0205271 xref: UMLS:C0448064 is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004281 name: Irregular sclerosis of hand bones namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0205271 xref: UMLS:C0448064 is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004283 name: Narrow hand namespace: medical_genetics xref: UMLS:C1857632 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004284 name: Notched hand bones namespace: medical_genetics xref: UMLS:C0205316 xref: UMLS:C0448064 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004285 name: Overmodelled hand bones namespace: medical_genetics xref: UMLS:C0448064 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004286 name: Patchy sclerosis of hand bones namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0448064 is_a: HP:0004281 ! Irregular sclerosis of hand bones [Term] id: HP:0004287 name: Pointed hand bones namespace: medical_genetics xref: UMLS:C0448064 xref: UMLS:C1552961 xref: UMLS:C2347617 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004288 name: Pseudoepiphyses of hand bones namespace: medical_genetics xref: UMLS:C0448064 xref: UMLS:C1841685 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 namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0205234 xref: UMLS:C0334135 xref: UMLS:C0448064 is_a: HP:0004281 ! Irregular sclerosis of hand bones [Term] id: HP:0004290 name: Sclerosis of hand bones with transverse striations namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0152459 xref: UMLS:C0205106 xref: UMLS:C0205364 xref: UMLS:C0448064 xref: UMLS:C1253938 xref: UMLS:C1963160 is_a: HP:0004054 ! Sclerosis of hand bones [Term] id: HP:0004291 name: Stippled calcification of hand bones namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C0448064 xref: UMLS:C1533591 xref: UMLS:C1879982 xref: UMLS:C1979978 is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004292 name: Undermodelled hand bones namespace: medical_genetics xref: UMLS:C0448064 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004293 name: Fusion of second metacarpal-trapezoid namespace: medical_genetics xref: UMLS:C0223741 xref: UMLS:C0223758 xref: UMLS:C0332466 xref: UMLS:C0730163 xref: UMLS:C1293131 xref: UMLS:C1306479 xref: UMLS:C1705168 is_a: HP:0009701 ! Synostosis involving the metacarpal bones is_a: HP:0009702 ! Synostosis involving the carpal bones [Term] id: HP:0004294 name: Subluxation of metacarpal phalangeal joints namespace: medical_genetics def: "A partial dislocation affecting some or all of the metacarpal phalangeal joints." [HPO:curators] xref: UMLS:C0025525 xref: UMLS:C0222682 xref: UMLS:C0223792 xref: UMLS:C0332768 is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0004295 name: Abnormality of the gastric mucosa namespace: medical_genetics def: "An abnormality of the `gastric mucous membrane` (FMA:14907)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0017136 xref: UMLS:C1704258 is_a: HP:0002577 ! Abnormality of the stomach created_by: peter creation_date: 2008-02-20T11:12:00Z [Term] id: HP:0004296 name: Abnormality of gastrointestinal vasculature namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0005839 xref: UMLS:C0521362 xref: UMLS:C1559265 xref: UMLS:C1704258 is_a: HP:0011024 ! 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 namespace: medical_genetics def: "An abnormality of the `biliary system` (FMA:79646)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0005423 xref: UMLS:C1283899 xref: UMLS:C1704258 is_a: HP:0001392 ! Abnormality of the liver created_by: peter creation_date: 2008-02-20T11:34:00Z [Term] id: HP:0004298 name: Abnormality of the abdominal wall namespace: medical_genetics alt_id: HP:0001462 def: "The presence of any abnormality affecting the `abdominal wall` (FMA:259054)." [HPO:curators] synonym: "Abnormality of external features of the abdomen" EXACT [] xref: UMLS:C0000726 xref: UMLS:C0000768 xref: UMLS:C0230168 xref: UMLS:C0836916 xref: UMLS:C1269041 xref: UMLS:C1281594 xref: UMLS:C1704258 xref: UMLS:C1853192 is_a: HP:0001438 ! Abnormality of the abdomen created_by: peter creation_date: 2008-02-20T11:40:00Z [Term] id: HP:0004299 name: Hernia of the abdominal wall namespace: medical_genetics def: "The presence of a hernia in the `abdominal wall` (FMA:259054)." [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. xref: UMLS:C0019270 xref: UMLS:C0836916 xref: UMLS:C1269041 is_a: HP:0004298 ! Abnormality of the abdominal wall created_by: peter creation_date: 2008-02-20T11:42:00Z [Term] id: HP:0004302 name: Functional motor problems. namespace: medical_genetics xref: UMLS:C0205245 xref: UMLS:C0542341 xref: UMLS:C1513492 xref: UMLS:C1546466 xref: UMLS:C1705994 is_a: HP:0003011 ! Abnormality of musculature created_by: peter creation_date: 2008-02-20T11:52:00Z [Term] id: HP:0004303 name: Abnormality of muscle fibers namespace: medical_genetics def: "Abnormality of muscle fibers, which are cylindrical and multinucleated cells. 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:curators] xref: UMLS:C0000768 xref: UMLS:C0242697 xref: UMLS:C1704258 is_a: HP:0003011 ! Abnormality of musculature created_by: peter creation_date: 2008-02-20T12:04:00Z [Term] id: HP:0004305 name: Involuntary muscle contractions namespace: medical_genetics xref: UMLS:C0235086 is_a: HP:0003011 ! Abnormality of musculature 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 namespace: medical_genetics alt_id: HP:0005260 def: "An abnormality of the `endocardium` (FMA:7280)." [HPO:probinson] synonym: "Abnormality of the endomycoardium" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0014124 xref: UMLS:C1546617 xref: UMLS:C1550632 xref: UMLS:C1704258 is_a: HP:0001627 ! Abnormality of the heart created_by: peter creation_date: 2008-02-20T01:23:00Z [Term] id: HP:0004307 name: Abnormal anatomic location of the heart namespace: medical_genetics xref: UMLS:C0018787 xref: UMLS:C0205161 xref: UMLS:C1281570 xref: UMLS:C1515974 xref: UMLS:C2347472 is_a: HP:0002564 ! Cardiac malformation created_by: peter creation_date: 2008-02-20T01:23:00Z [Term] id: HP:0004308 name: Ventricular arrhythmia namespace: medical_genetics xref: UMLS:C0085612 xref: UMLS:C1883529 xref: UMLS:C1963277 is_a: HP:0001665 ! Abnormality of cardiac conduction created_by: peter creation_date: 2008-02-20T01:28:00Z [Term] id: HP:0004309 name: Pre-excitation syndromes namespace: medical_genetics xref: UMLS:C0032915 is_a: HP:0001665 ! Abnormality of cardiac conduction created_by: peter creation_date: 2008-02-20T01:29:00Z [Term] id: HP:0004311 name: Abnormality of macrophages namespace: medical_genetics alt_id: HP:0004310 def: "An abnormality of `macrophages` (CL:0000235)." [HPO:probinson] synonym: "Abnormality of histiocytes" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0019612 xref: UMLS:C0024432 xref: UMLS:C1546706 xref: UMLS:C1550652 xref: UMLS:C1704258 is_a: HP:0010974 ! Abnormality of myeloid leukocytes created_by: peter creation_date: 2008-02-20T03:14:00Z [Term] id: HP:0004312 name: Abnormality of reticulocytes namespace: medical_genetics def: "A `reticulocyte` (CL:0000558) abnormality." [HPO:probinson] comment: Reticulocytes are immature erythrocytes that show a basophilic reticulum under vital staining. xref: UMLS:C0000768 xref: UMLS:C0035286 xref: UMLS:C1704258 is_a: HP:0010973 ! Abnormality of erythroid lineage cell created_by: peter creation_date: 2008-02-20T03:19:00Z [Term] id: HP:0004313 name: Hypogammaglobulinemia namespace: medical_genetics 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:C0151728 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0428536 xref: UMLS:C0441889 xref: UMLS:C0456079 xref: UMLS:C0745242 xref: UMLS:C1855415 is_a: HP:0010701 ! Abnormal immunoglobulin level created_by: peter creation_date: 2008-02-20T03:34:00Z [Term] id: HP:0004315 name: Decreased IgG level namespace: medical_genetics alt_id: HP:0003289 alt_id: HP:0005394 alt_id: HP:0008340 def: "An abnormally decreased level of immunoglobulin IgG in blood." [HPO:probinson] synonym: "Decreased gamma-globin expression" EXACT [] synonym: "Decreased immunoglobulin G" EXACT [] synonym: "Decreased serum IgG" EXACT [] synonym: "IgG deficiency" EXACT [] synonym: "Reduced IgG levels" EXACT [] xref: UMLS:C0017033 xref: UMLS:C0020852 xref: UMLS:C0086438 xref: UMLS:C0151728 xref: UMLS:C0162539 xref: UMLS:C0185117 xref: UMLS:C0205216 xref: UMLS:C0239987 xref: UMLS:C0392756 xref: UMLS:C0439267 xref: UMLS:C0441889 xref: UMLS:C0456079 xref: UMLS:C1553027 xref: UMLS:C1839308 xref: UMLS:C1855798 xref: UMLS:C2188708 is_a: HP:0004313 ! Hypogammaglobulinemia created_by: peter creation_date: 2008-02-20T03:43:00Z [Term] id: HP:0004316 name: Increased cortisol production namespace: medical_genetics xref: UMLS:C0020268 xref: UMLS:C0033268 xref: UMLS:C0205217 xref: UMLS:C0442805 is_a: HP:0002717 ! Abnormality of cortisol production created_by: peter creation_date: 2008-02-25T10:44:00Z [Term] id: HP:0004317 name: Decreased cortisol production namespace: medical_genetics xref: UMLS:C0033268 xref: UMLS:C0740379 is_a: HP:0002717 ! Abnormality of cortisol production created_by: peter creation_date: 2008-02-25T10:44:00Z [Term] id: HP:0004318 name: Increased aldosterone production namespace: medical_genetics xref: UMLS:C0033268 xref: UMLS:C0151475 is_a: HP:0000859 ! Increased plasma aldosterone created_by: peter creation_date: 2008-02-25T10:45:00Z [Term] id: HP:0004319 name: Decreased aldosterone production namespace: medical_genetics xref: UMLS:C0033268 xref: UMLS:C0858237 is_a: HP:0002855 ! Abnormality of aldosterone production created_by: peter creation_date: 2008-02-25T10:45:00Z [Term] id: HP:0004320 name: Vaginal fistula namespace: medical_genetics def: "The presence of a `fistula` (MPATH:70) of the `vagina` (FMA:19949)." [HPO:probinson] xref: UMLS:C0042253 is_a: HP:0000142 ! Abnormality of the vagina is_a: HP:0100589 ! Urogenital fistula created_by: peter creation_date: 2008-02-25T12:17:00Z [Term] id: HP:0004321 name: Bladder fistula namespace: medical_genetics def: "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." [HPO:curators] xref: UMLS:C0005690 xref: UMLS:C1963264 is_a: HP:0000014 ! Abnormality of the bladder is_a: HP:0100589 ! Urogenital fistula created_by: peter creation_date: 2008-02-25T12:32:00Z [Term] id: HP:0004322 name: Short stature namespace: medical_genetics alt_id: HP:0001509 alt_id: HP:0003501 alt_id: HP:0003507 alt_id: HP:0003519 alt_id: HP:0008882 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: "Below the third percentile" EXACT [] synonym: "Decreased body height" EXACT [] synonym: "Short stature (<3rd percentile)" EXACT [] synonym: "Short stature." EXACT [] synonym: "Small stature" EXACT [] xref: UMLS:C0205437 xref: UMLS:C0349588 xref: UMLS:C0424641 xref: UMLS:C1264641 xref: UMLS:C2237041 is_a: HP:0000002 ! Abnormality of body height is_a: HP:0001510 ! Growth retardation created_by: peter creation_date: 2008-02-27T03:19:00Z [Term] id: HP:0004323 name: Abnormality of body weight namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0005910 xref: UMLS:C1305866 xref: UMLS:C1704258 is_a: HP:0001507 ! Growth abnormality created_by: peter creation_date: 2008-02-27T03:21:00Z [Term] id: HP:0004324 name: Increased body weight namespace: medical_genetics xref: UMLS:C0043094 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 namespace: medical_genetics synonym: "Decreased weight" EXACT [] xref: UMLS:C0043096 is_a: HP:0001510 ! Growth retardation is_a: HP:0004323 ! Abnormality of body weight created_by: peter creation_date: 2008-02-27T03:22:00Z [Term] id: HP:0004326 name: Cachexia namespace: medical_genetics xref: UMLS:C0006625 is_a: HP:0004325 ! Decreased body weight created_by: peter creation_date: 2008-02-27T03:23:00Z [Term] id: HP:0004327 name: Abnormality of the vitreous humor namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0229096 xref: UMLS:C1305933 xref: UMLS:C1704258 is_a: HP:0004329 ! Abnormality of the posterior segment of the eye created_by: peter creation_date: 2008-02-27T04:20:00Z [Term] id: HP:0004328 name: Abnormality of the anterior segment of the eye namespace: medical_genetics def: "An abnormality of the `anterior segment` (FMA:58865) 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. xref: UMLS:C0000768 xref: UMLS:C0015392 xref: UMLS:C0348014 xref: UMLS:C1280202 xref: UMLS:C1704258 is_a: HP:0000478 ! Abnormality of the eye created_by: peter creation_date: 2008-02-27T04:23:00Z [Term] id: HP:0004329 name: Abnormality of the posterior segment of the eye namespace: medical_genetics 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. xref: UMLS:C0000768 xref: UMLS:C0015392 xref: UMLS:C0348015 xref: UMLS:C1280202 xref: UMLS:C1704258 is_a: HP:0000478 ! Abnormality of the eye created_by: peter creation_date: 2008-02-27T04:25:00Z [Term] id: HP:0004330 name: Increased skull ossification namespace: medical_genetics def: "An increase in the magnitude or amount of ossification of the skull." [HPO:curators] xref: UMLS:C0037303 xref: UMLS:C0699812 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 namespace: medical_genetics alt_id: HP:0003780 def: "A reduction in the magnitude or amount of ossification of the skull." [HPO:curators] 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:C0029433 xref: UMLS:C0037303 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C1848767 xref: UMLS:C1855655 xref: UMLS:C1855825 xref: UMLS:C1859123 xref: UMLS:C1860201 xref: UMLS:C1969678 is_a: HP:0002703 ! Abnormality of skull ossification is_a: HP:0004348 ! Abnormality of bone mineral density created_by: peter creation_date: 2008-02-28T11:54:00Z [Term] id: HP:0004332 name: Abnormality of lymphocytes namespace: medical_genetics alt_id: HP:0001887 def: "An abnormality of `lymphocytes` (CL:0000542)." [HPO:probinson] comment: A lymphocyte refers to a cell of the B cell, T cell, or natural killer cell lineage. xref: UMLS:C0000768 xref: UMLS:C0024264 xref: UMLS:C1704258 xref: UMLS:C2200256 is_a: HP:0001881 ! Abnormality of leukocytes created_by: peter creation_date: 2008-02-28T06:46:00Z [Term] id: HP:0004333 name: Foam cells on bone marrow biopsy namespace: medical_genetics xref: UMLS:C0005954 xref: UMLS:C0016390 is_a: HP:0004311 ! Abnormality of macrophages created_by: peter creation_date: 2008-02-28T06:48:00Z [Term] id: HP:0004334 name: Dermal atrophy namespace: medical_genetics alt_id: HP:0000985 alt_id: HP:0001077 def: "Partial or complete wasting (atrophy) of the skin." [HPO:curators] synonym: "Atrophic skin" EXACT [] synonym: "Skin atrophy" EXACT [] xref: UMLS:C0151514 xref: UMLS:C1963069 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin created_by: peter creation_date: 2008-03-04T06:24:00Z [Term] id: HP:0004335 name: Abnormal formation of myelin sheaths namespace: medical_genetics xref: UMLS:C0026973 xref: UMLS:C0439172 is_a: HP:0002520 ! Abnormal myelination created_by: peter creation_date: 2008-03-04T06:38:00Z [Term] id: HP:0004336 name: Myelin outfoldings namespace: medical_genetics xref: UMLS:C0026969 xref: UMLS:C0026973 is_a: HP:0002520 ! Abnormal myelination created_by: peter creation_date: 2008-03-04T06:41:00Z [Term] id: HP:0004337 name: Abnormality of amino acid metabolism namespace: medical_genetics def: "Abnormality of an `amino acid metabolic process` (GO:0006520)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0596076 xref: UMLS:C1704258 is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism created_by: peter creation_date: 2008-03-08T07:53:00Z [Term] id: HP:0004338 name: Abnormality of aromatic amino acid family metabolism namespace: medical_genetics def: "An abnormality of a `aromatic amino acid family metabolic process` (GO:0009072)." [HPO:probinson] xref: UMLS:C0031453 xref: UMLS:C1156790 is_a: HP:0004337 ! Abnormality of amino acid metabolism created_by: peter creation_date: 2008-03-08T07:55:00Z [Term] id: HP:0004339 name: Abnormality of sulfur amino acid metabolism namespace: medical_genetics def: "An abnormality of a `sulfur amino acid metabolic process` (GO:0000096)." [HPO:gcarletti] comment: Cysteine and methionine contain a sulfur atom. synonym: "Abnormality of sulfur-containing amino acids" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0002520 xref: UMLS:C0038774 xref: UMLS:C0332256 xref: UMLS:C1704258 xref: UMLS:C2348286 is_a: HP:0004337 ! Abnormality of amino acid metabolism created_by: peter creation_date: 2008-03-08T08:01:00Z [Term] id: HP:0004340 name: Abnormality of vitamin B metabolism namespace: medical_genetics synonym: "Abnormality of B-vitamin metabolism" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0597672 xref: UMLS:C1704258 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 namespace: medical_genetics synonym: "Abnormality of vitamin B12 metabolism" EXACT [] xref: UMLS:C0000768 xref: UMLS:C1158233 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Abnormality of `galactoside` (CHEBI:24163) metabolism." [HPO:gcarletti] xref: UMLS:C0000768 xref: UMLS:C0016956 xref: UMLS:C0025519 xref: UMLS:C0025520 xref: UMLS:C1704258 is_a: HP:0003649 ! Abnormality of glycoside metabolism created_by: peter creation_date: 2008-03-08T08:33:00Z [Term] id: HP:0004343 name: Abnormality of glycosphingolipid metabolism namespace: medical_genetics def: "An abnormality of `glycosphingolipid` (CHEBI:24402) 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. xref: UMLS:C0000768 xref: UMLS:C1158412 xref: UMLS:C1704258 is_a: HP:0010969 ! Abnormality of glycolipid metabolism created_by: peter creation_date: 2008-03-08T08:35:00Z [Term] id: HP:0004344 name: Abnormality of cerebrosidase metabolism namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0025519 xref: UMLS:C0025520 xref: UMLS:C0582120 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Abnormality of `ganglioside` (CHEBI:28892) metabolism." [HPO:probinson] comment: A ganglioside is composed of a glycosphingolipid with one or more sialic acids linked on the sugar chain. xref: UMLS:C0000768 xref: UMLS:C1158413 xref: UMLS:C1704258 is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism created_by: peter creation_date: 2008-03-11T07:50:00Z [Term] id: HP:0004346 name: Increased respiratory rate or depth of breathing namespace: medical_genetics xref: UMLS:C0035203 xref: UMLS:C0205125 xref: UMLS:C0231835 xref: UMLS:C1160636 xref: UMLS:C2015926 is_a: HP:0002795 ! Functional respiratory abnormality created_by: peter creation_date: 2008-03-11T08:00:00Z [Term] id: HP:0004347 name: Abnormal weakness of muscles of respiration namespace: medical_genetics xref: UMLS:C0004093 xref: UMLS:C0026845 xref: UMLS:C0035203 xref: UMLS:C0205161 xref: UMLS:C0282636 xref: UMLS:C1160636 xref: UMLS:C1883552 xref: UMLS:C1995013 xref: UMLS:C2347472 xref: UMLS:C2364118 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 namespace: medical_genetics def: "This term applies to all changes in bone mineralisation and or ossification 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 atypic calicfications of different origin and distribution. The overall amount of mineralisation 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:curators] synonym: "Abnormality of bone mineralisation and ossification" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0005938 xref: UMLS:C0029433 xref: UMLS:C0177804 xref: UMLS:C1704258 xref: UMLS:C2350989 is_a: HP:0000924 ! Abnormality of the musculoskeletal system created_by: peter creation_date: 2008-03-11T08:10:00Z [Term] id: HP:0004349 name: Reduced bone mineral density namespace: medical_genetics 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 [] xref: UMLS:C0005938 xref: UMLS:C0177804 xref: UMLS:C0392756 xref: UMLS:C0871421 xref: UMLS:C1968854 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0920640 xref: UMLS:C1621315 xref: UMLS:C1704258 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 namespace: medical_genetics def: "An abnormality of a `pyrimidine base metabolic process` (GO:0006206)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0920641 xref: UMLS:C1704258 is_a: HP:0010932 ! Abnormality of nucleobase metabolism created_by: peter creation_date: 2008-03-17T01:05:00Z [Term] id: HP:0004354 name: Abnormality of carboxylic acid metabolism namespace: medical_genetics def: "An abnormality of the metabolism of a `carboxylic acid` (CHEBI:33575)." [HPO:gcarletti] xref: UMLS:C0000768 xref: UMLS:C1158839 xref: UMLS:C1704258 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2008-03-17T01:11:00Z [Term] id: HP:0004355 name: Abnormality of proteoglycan metabolism namespace: medical_genetics def: "An abnormality of `proteoglycan` (CHEBI:37396) metabolism." [HPO:gcarletti] xref: UMLS:C0000768 xref: UMLS:C1157844 xref: UMLS:C1704258 is_a: HP:0011012 ! Abnormality of polysaccharide metabolism created_by: peter creation_date: 2008-03-17T01:12:00Z [Term] id: HP:0004356 name: Abnormality of lysosomal metabolism namespace: medical_genetics comment: A major lysosomal function is the breakdown and recycling of macromolecules and organelles into basic precursors. xref: UMLS:C0000768 xref: UMLS:C0025519 xref: UMLS:C0025520 xref: UMLS:C0521450 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Abnormality of a `leucine metabolic process`(GO:0006551)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C1156805 xref: UMLS:C1704258 is_a: HP:0010892 ! Abnormality of branched chain family amino acid metabolism created_by: peter creation_date: 2008-03-17T03:02:00Z [Term] id: HP:0004358 name: Abnormality of superoxide metabolism namespace: medical_genetics comment: NADPH oxidase catalyzes the production of superoxide, which in turn can react to form hydrogen peroxide, HOCl, and hydroxyl radical. Together, these oxygen-derived species participate in bacterial killing. xref: UMLS:C0000768 xref: UMLS:C1158880 xref: UMLS:C1704258 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 namespace: medical_genetics def: "An abnormality of `fatty acid` (CHEBI:35366) 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: "" RELATED [] synonym: "Abnormality of fatty acid metabolism" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0596563 xref: UMLS:C1704258 is_a: HP:0003119 ! Abnormality of lipid metabolism created_by: peter creation_date: 2008-03-17T03:28:00Z [Term] id: HP:0004360 name: Abnormality of acid-base homeostasis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0001128 xref: UMLS:C0678121 xref: UMLS:C1704258 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 namespace: medical_genetics def: "An `abnormal` (PATO:0000460) `concentration` (PATO:0000033) of `leptin` (PRO:000009758) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C0001527 xref: UMLS:C0025519 xref: UMLS:C0025520 xref: UMLS:C0040300 xref: UMLS:C0205161 xref: UMLS:C0598783 xref: UMLS:C0851285 xref: UMLS:C1327622 xref: UMLS:C1547928 xref: UMLS:C2347472 is_a: HP:0003117 ! Abnormality of circulating hormone level created_by: peter creation_date: 2008-03-17T03:37:00Z [Term] id: HP:0004362 name: Abnormality of the enteric ganglia namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0501399 xref: UMLS:C1704258 is_a: HP:0002250 ! Abnormality of the large intestine created_by: peter creation_date: 2008-03-17T03:40:00Z [Term] id: HP:0004363 name: Abnormality of calcium homeostasis namespace: medical_genetics def: "An abnormality of `calcium ion homeostasis` (GO:0055074)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0596236 xref: UMLS:C1704258 is_a: HP:0010927 ! Abnormality of divalent inorganic cation homeostasis created_by: peter creation_date: 2008-03-17T04:15:00Z [Term] id: HP:0004364 name: Abnormality of nitrogen compound homeostasis namespace: medical_genetics def: "The presence of an abnormal concentration of `nitrogen compounds` (CHEBI:51143)." [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. xref: UMLS:C0000768 xref: UMLS:C0002607 xref: UMLS:C0025519 xref: UMLS:C0025520 xref: UMLS:C0876283 xref: UMLS:C1095824 xref: UMLS:C1704258 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2008-03-17T04:51:00Z [Term] id: HP:0004365 name: Abnormality of tryptophan metabolism namespace: medical_genetics def: "An abnormality of `tryptophan metabolic process` (GO:0006568)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C1156787 xref: UMLS:C1704258 is_a: HP:0004338 ! Abnormality of aromatic amino acid family metabolism created_by: peter creation_date: 2008-03-17T04:55:00Z [Term] id: HP:0004366 name: Abnormality of glycolysis namespace: medical_genetics def: "An abnormality of `glycolysis` (GO:0006096)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0017952 xref: UMLS:C1704258 is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis created_by: peter creation_date: 2008-03-17T05:00:00Z [Term] id: HP:0004367 name: Abnormality of glycoprotein metabolism namespace: medical_genetics def: "An abnormality of a `glycoprotein metabolic process` (GO:0009100)." [HPO:gcarletti] comment: This category is meant to contain biochemical abnormalities indicative of abnormal protein sugar modifications. xref: UMLS:C0000768 xref: UMLS:C1158914 xref: UMLS:C1704258 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2008-03-18T08:14:00Z [Term] id: HP:0004368 name: Increased purine levels namespace: medical_genetics xref: UMLS:C0034140 xref: UMLS:C0205217 xref: UMLS:C0220903 xref: UMLS:C0441889 xref: UMLS:C0442805 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 namespace: medical_genetics xref: UMLS:C0034140 xref: UMLS:C0220903 xref: UMLS:C1999139 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 namespace: medical_genetics def: "An abnormality of `temperature homeostasis` (GO:0001659)." [HPO:probinson] synonym: "Poor temperature regulation" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0412806 xref: UMLS:C1704258 xref: UMLS:C1832160 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2008-03-18T06:34:00Z [Term] id: HP:0004371 name: Abnormality of glycosaminoglycan metabolism namespace: medical_genetics def: "Abnormality of `glycosaminoglycan` (CHEBI:18085) 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. xref: UMLS:C0000768 xref: UMLS:C1156914 xref: UMLS:C1704258 is_a: HP:0011012 ! Abnormality of polysaccharide metabolism created_by: peter creation_date: 2008-03-18T06:36:00Z [Term] id: HP:0004372 name: Reduced consciousness/confusion namespace: medical_genetics synonym: "Disturbances of consciousness" EXACT [] synonym: "Lowered consciousness" EXACT [] xref: UMLS:C0009676 xref: UMLS:C0234421 xref: UMLS:C0392756 xref: UMLS:C0517960 xref: UMLS:C1272755 xref: UMLS:C1963086 is_a: HP:0002011 ! Abnormality of the central nervous system created_by: peter creation_date: 2008-03-18T07:12:00Z [Term] id: HP:0004373 name: Focal dystonia namespace: medical_genetics def: "A type of `dystonia` (HP:0001332) that is localized to a specific part of the body." [HPO:probinson] xref: UMLS:C0743332 is_a: HP:0001332 ! Dystonia created_by: peter creation_date: 2008-03-18T07:33:00Z [Term] id: HP:0004374 name: Hemiplegia/hemiparesis namespace: medical_genetics 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] xref: UMLS:C0018989 xref: UMLS:C0018991 is_a: HP:0010549 ! Paralysis due to lesions of the principle motor tracts created_by: peter creation_date: 2008-03-18T07:35:00Z [Term] id: HP:0004375 name: Neoplasm of the nervous system namespace: medical_genetics def: "A `neoplasm` (MPATH:218) affecting the `nervous system` (FMA:7157)." [HPO:probinson] synonym: "Neoplasia of the nervous system" RELATED [] synonym: "Tumor of the nervous system" EXACT [HPO:sdoelken] xref: UMLS:C0027651 xref: UMLS:C0027763 xref: UMLS:C1269560 xref: UMLS:C1578706 is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0002664 ! Neoplasia created_by: peter creation_date: 2008-03-18T07:38:00Z [Term] id: HP:0004376 name: Neuroblastic tumors namespace: medical_genetics comment: Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors. xref: UMLS:C1334953 is_a: HP:0100006 ! Neoplasm of the central nervous system created_by: peter creation_date: 2008-03-18T07:39:00Z [Term] id: HP:0004377 name: Hematological neoplasia namespace: medical_genetics xref: UMLS:C0376545 is_a: HP:0002664 ! Neoplasia created_by: peter creation_date: 2008-03-18T07:44:00Z [Term] id: HP:0004378 name: Abnormality of the anus namespace: medical_genetics def: "Abnormality of the `anal canal` (FMA:15703)." [HPO:probinson] comment: The anal canal is continuous proximally with the rectum and distally terminates with the anus. xref: UMLS:C0000768 xref: UMLS:C0003461 xref: UMLS:C1278927 xref: UMLS:C1704258 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract created_by: peter creation_date: 2008-03-18T08:11:00Z [Term] id: HP:0004379 name: Abnormality of alkaline phosphatase activity namespace: medical_genetics def: "An abnormality of `alkaline phosphatase activity` (GO:0004035)." [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. xref: UMLS:C0000768 xref: UMLS:C1149888 xref: UMLS:C1704258 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2008-03-18T08:13:00Z [Term] id: HP:0004380 name: Aortic valve calcification namespace: medical_genetics xref: UMLS:C0428791 is_a: HP:0001646 ! Abnormality of the aortic valve is_a: HP:0005146 ! Calcifications of the cardiac valves created_by: peter creation_date: 2008-03-18T08:52:00Z [Term] id: HP:0004381 name: Supravalvular aortic stenosis namespace: medical_genetics xref: UMLS:C0003499 is_a: HP:0001650 ! Aortic stenosis created_by: peter creation_date: 2008-03-18T08:54:00Z [Term] id: HP:0004382 name: Mitral valve calcification namespace: medical_genetics xref: UMLS:C0919718 is_a: HP:0001633 ! Abnormality of the mitral valve is_a: HP:0005146 ! Calcifications of the cardiac valves created_by: peter creation_date: 2008-03-18T08:55:00Z [Term] id: HP:0004383 name: Hypoplastic left heart namespace: medical_genetics 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 is_a: HP:0001961 ! Hypoplastic heart created_by: peter creation_date: 2008-03-18T08:56:00Z [Term] id: HP:0004384 name: Type 1 truncus arteriosus namespace: medical_genetics xref: UMLS:C1834934 is_a: HP:0001660 ! Persistant truncus arteriosus created_by: peter creation_date: 2008-03-18T08:57:00Z [Term] id: HP:0004385 name: Protracted diarrhea namespace: medical_genetics xref: UMLS:C0473133 is_a: HP:0002014 ! Diarrhea created_by: peter creation_date: 2008-03-18T09:00:00Z [Term] id: HP:0004386 name: Gastrointestinal inflammatory disorder namespace: medical_genetics xref: UMLS:C0017178 xref: UMLS:C0333348 xref: UMLS:C0521362 xref: UMLS:C1290884 xref: UMLS:C1559265 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract created_by: peter creation_date: 2008-03-18T09:01:00Z [Term] id: HP:0004387 name: Enterocolitis namespace: medical_genetics 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: UMLS:C0014356 is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0100282 ! Acute colitis created_by: peter creation_date: 2008-03-18T09:02:00Z [Term] id: HP:0004388 name: Microcolon namespace: medical_genetics xref: UMLS:C0266200 is_a: HP:0002250 ! Abnormality of the large intestine created_by: peter creation_date: 2008-03-18T09:02:00Z [Term] id: HP:0004389 name: Intestinal pseudo-obstruction namespace: medical_genetics xref: UMLS:C0021847 is_a: HP:0002242 ! Abnormality of the intestine created_by: peter creation_date: 2008-03-18T09:03:00Z [Term] id: HP:0004390 name: Hamartomatous polyps namespace: medical_genetics def: "Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestine. Patients with Cowden-Syndrom for example often have multpile hamartomatous gastrointestinal polyps." [HPO:curators] xref: UMLS:C0334092 is_a: HP:0005266 ! Intestinal polyps is_a: HP:0010566 ! Hamartoma created_by: peter creation_date: 2008-03-18T09:04:00Z [Term] id: HP:0004392 name: Prune belly namespace: medical_genetics def: "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." [HPO:probinson] comment: Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles. xref: UMLS:C0033770 is_a: HP:0004298 ! Abnormality of the abdominal wall created_by: peter creation_date: 2008-03-18T09:08:00Z [Term] id: HP:0004393 name: Liver dysfunction namespace: medical_genetics xref: UMLS:C0086565 is_a: HP:0001410 ! Decreased liver function created_by: peter creation_date: 2008-03-18T09:10:00Z [Term] id: HP:0004394 name: Multiple gastric polyps namespace: medical_genetics xref: UMLS:C0236048 is_a: HP:0006753 ! Neoplasm of the stomach created_by: peter creation_date: 2008-03-18T09:11:00Z [Term] id: HP:0004395 name: Malnutrition namespace: medical_genetics xref: UMLS:C0162429 is_a: HP:0002012 ! Abnormality of the abdominal organs created_by: peter creation_date: 2008-03-18T09:12:00Z [Term] id: HP:0004396 name: Poor appetite namespace: medical_genetics xref: UMLS:C0232462 is_a: HP:0002012 ! Abnormality of the abdominal organs created_by: peter creation_date: 2008-03-18T09:12:00Z [Term] id: HP:0004397 name: Ectopic anus namespace: medical_genetics def: "Abnormal displacement or malposition of the anus." [HPO:curators] xref: UMLS:C0266231 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 namespace: medical_genetics def: "An `ulcer` (MPATH:579) of the `gastrointestinal tract` (FMA:71132)." [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: UMLS:C0030920 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract created_by: peter creation_date: 2008-03-18T09:14:00Z [Term] id: HP:0004399 name: Congenital pyloric atresia namespace: medical_genetics def: "`Congenital` (HP:0003577) atresia of the `pylorus` (FMA:14581)." [HPO:probinson] xref: UMLS:C0009678 xref: UMLS:C0034196 xref: UMLS:C0243066 xref: UMLS:C0266159 xref: UMLS:C1744681 is_a: HP:0004400 ! Abnormality of the pylorus created_by: peter creation_date: 2008-03-18T09:15:00Z [Term] id: HP:0004400 name: Abnormality of the pylorus namespace: medical_genetics def: "An abnormality of the `pylorus` (FMA:14581)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0034196 xref: UMLS:C1704258 is_a: HP:0002577 ! Abnormality of the stomach created_by: peter creation_date: 2008-03-18T09:15:00Z [Term] id: HP:0004401 name: Meconium ileus namespace: medical_genetics 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: "Meconium ileus in neonates" EXACT [] xref: UMLS:C0021289 xref: UMLS:C0270246 xref: UMLS:C0546982 is_a: HP:0010676 ! Mechanical ileus created_by: peter creation_date: 2008-03-18T09:16:00Z [Term] id: HP:0004403 name: Proximal esophageal atresia namespace: medical_genetics xref: UMLS:C0014850 xref: UMLS:C0205107 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 namespace: medical_genetics def: "An abnormality of the `nipple` (FMA:67771)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0028109 xref: UMLS:C1704258 is_a: HP:0000769 ! Abnormality of the breast created_by: peter creation_date: 2008-03-18T09:18:00Z [Term] id: HP:0004405 name: Prominent nipples namespace: medical_genetics xref: UMLS:C1855513 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 namespace: medical_genetics alt_id: HP:0003684 synonym: "Recurrent epistaxes" EXACT [] synonym: "Recurrent epistaxis" EXACT [] xref: UMLS:C0205359 xref: UMLS:C0743554 is_a: HP:0000421 ! Epistaxis created_by: peter creation_date: 2008-03-18T09:20:00Z [Term] id: HP:0004407 name: Bony paranasal bossing namespace: medical_genetics xref: UMLS:C1857499 is_a: HP:0005105 ! Abnormal nasal morphology created_by: peter creation_date: 2008-03-18T09:20:00Z [Term] id: HP:0004408 name: Abnormality of the sense of smell namespace: medical_genetics alt_id: HP:0004410 synonym: " Abnormality of olfaction" EXACT [] synonym: "Smell defect" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0037361 xref: UMLS:C1457869 xref: UMLS:C1547044 xref: UMLS:C1704258 xref: UMLS:C1861101 is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0001333 ! Abnormality of the sensory nervous system created_by: peter creation_date: 2008-03-18T09:21:00Z [Term] id: HP:0004409 name: Hyposmia namespace: medical_genetics def: "A decreased sensitivity to odorants (that is, a decreased ability to perceive odors)." [HPO:curators] synonym: "Decreased smell sensation" EXACT [] xref: UMLS:C0234260 xref: UMLS:C1837497 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 namespace: medical_genetics xref: UMLS:C0549397 is_a: HP:0000419 ! Abnormality of the nasal septum created_by: peter creation_date: 2008-03-18T09:23:00Z [Term] id: HP:0004412 name: Cleft ala nasi namespace: medical_genetics def: "The presence of a notch in the margin of the `ala nasi` (FMA:59519)." [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 [] xref: UMLS:C0205242 xref: UMLS:C0458563 xref: UMLS:C0702172 xref: UMLS:C1283890 is_a: HP:0000429 ! Abnormality of the nasal alae created_by: peter creation_date: 2008-03-18T09:23:00Z [Term] id: HP:0004414 name: Abnormality of the pulmonary artery namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0034052 xref: UMLS:C1269026 xref: UMLS:C1704258 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature created_by: peter creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004415 name: Pulmonary artery stenosis namespace: medical_genetics xref: UMLS:C0238397 xref: UMLS:C0265911 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 namespace: medical_genetics synonym: "Premature atherosclerosis" EXACT [] xref: UMLS:C0004153 xref: UMLS:C1279930 xref: UMLS:C1867742 is_a: HP:0002621 ! Atherosclerosis created_by: peter creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004417 name: Intermittent claudication namespace: medical_genetics comment: Vascular intermittent claudication caused by peripheral arterial disease most often related to severe atherosclerosis. xref: UMLS:C0021775 is_a: HP:0002621 ! Atherosclerosis created_by: peter creation_date: 2008-03-18T09:29:00Z [Term] id: HP:0004418 name: Thrombophlebitis namespace: medical_genetics xref: UMLS:C0040046 is_a: HP:0002624 ! Venous abnormalities created_by: peter creation_date: 2008-03-18T09:30:00Z [Term] id: HP:0004419 name: Recurrent thrombophlebitis namespace: medical_genetics synonym: "Recurrent phlebitis" EXACT [] synonym: "Recurrent thrombosis" EXACT [] xref: UMLS:C0031542 xref: UMLS:C0034897 xref: UMLS:C0040046 xref: UMLS:C0040053 is_a: HP:0004418 ! Thrombophlebitis created_by: peter creation_date: 2008-03-18T09:31:00Z [Term] id: HP:0004420 name: Arterial thrombosis namespace: medical_genetics xref: UMLS:C0151942 is_a: HP:0001977 ! Thrombosis created_by: peter creation_date: 2008-03-18T09:32:00Z [Term] id: HP:0004421 name: Elevated systolic blood pressure namespace: medical_genetics xref: UMLS:C1840374 is_a: HP:0000822 ! Hypertension created_by: peter creation_date: 2008-03-18T09:33:00Z [Term] id: HP:0004422 name: Biparietal narrowing namespace: medical_genetics 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 is_a: HP:0002648 ! Abnormality of skull shape created_by: peter creation_date: 2008-03-18T09:35:00Z [Term] id: HP:0004423 name: Cranium bifidum occultum namespace: medical_genetics xref: UMLS:C1868598 is_a: HP:0002084 ! Encephalocele created_by: peter creation_date: 2008-03-18T09:37:00Z [Term] id: HP:0004424 name: Micturition difficulties namespace: medical_genetics def: "Impairment of `urination` (GO:0060073)." [HPO:probinson] xref: UMLS:C0241705 is_a: HP:0000009 ! Functional abnormality of the bladder created_by: peter creation_date: 2008-03-18T09:39:00Z [Term] id: HP:0004425 name: Flattened forehead namespace: medical_genetics def: "An abnormally flat form of the forehead." [HPO:curators] xref: UMLS:C1857485 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0007966 xref: UMLS:C1704258 is_a: HP:0000309 ! Abnormality of the midface created_by: peter creation_date: 2008-03-18T09:42:00Z [Term] id: HP:0004427 name: Chubby cheeks namespace: medical_genetics xref: UMLS:C0007966 is_a: HP:0000293 ! Full cheeks created_by: peter creation_date: 2008-03-18T09:42:00Z [Term] id: HP:0004428 name: Elfin facies namespace: medical_genetics xref: UMLS:C0332606 is_a: HP:0001999 ! Facial dysmorphism created_by: peter creation_date: 2008-03-18T09:43:00Z [Term] id: HP:0004429 name: Recurrent viral infections namespace: medical_genetics xref: UMLS:C1837066 is_a: HP:0002719 ! Recurrent infections created_by: peter creation_date: 2008-03-18T09:45:00Z [Term] id: HP:0004430 name: Severe combined immunodeficiency namespace: medical_genetics 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: UMLS:C0085110 is_a: HP:0002721 ! Immunodeficiency created_by: peter creation_date: 2008-03-18T09:46:00Z [Term] id: HP:0004431 name: Complement deficiency namespace: medical_genetics xref: UMLS:C0272242 is_a: HP:0005339 ! Abnormality of complement system created_by: peter creation_date: 2008-03-18T09:51:00Z [Term] id: HP:0004432 name: Agammaglobulinemia namespace: medical_genetics xref: UMLS:C0001768 is_a: HP:0004315 ! Decreased IgG level created_by: peter creation_date: 2008-03-18T09:47:00Z [Term] id: HP:0004433 name: Selective IgA deficiency namespace: medical_genetics xref: UMLS:C0162538 is_a: HP:0002720 ! Decreased IgA created_by: peter creation_date: 2008-03-18T09:48:00Z [Term] id: HP:0004434 name: C8 deficiency namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0162429 xref: UMLS:C1305854 xref: UMLS:C1623416 is_a: HP:0004431 ! Complement deficiency created_by: peter creation_date: 2008-03-18T09:53:00Z [Term] id: HP:0004437 name: Cranial hyperostosis namespace: medical_genetics alt_id: HP:0002698 def: "Excessive growth of the cranial bones." [HPO:curators] synonym: "Hyperostosis of cranial vault" EXACT [] xref: UMLS:C0020492 xref: UMLS:C0037303 xref: UMLS:C0205096 xref: UMLS:C1550319 is_a: HP:0002683 ! Abnormality of the calvarium is_a: HP:0004330 ! Increased skull ossification created_by: peter creation_date: 2008-03-18T09:57:00Z [Term] id: HP:0004438 name: Hyperostosis frontalis interna namespace: medical_genetics def: "Bony overgrowth of the internal surface of frontal bone." [HPO:curators] xref: UMLS:C0020494 is_a: HP:0004437 ! Cranial hyperostosis created_by: peter creation_date: 2008-03-18T09:57:00Z [Term] id: HP:0004439 name: Craniofacial dysostosis namespace: medical_genetics 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: UMLS:C0010273 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 namespace: medical_genetics alt_id: HP:0002739 synonym: "Craniosynostosis (coronal)" EXACT [] xref: UMLS:C0010278 xref: UMLS:C0205123 xref: UMLS:C1442871 xref: UMLS:C1856266 is_a: HP:0001363 ! Craniosynostosis created_by: peter creation_date: 2008-03-18T09:59:00Z [Term] id: HP:0004441 name: Craniosynostosis, coronal and lambdoidal namespace: medical_genetics alt_id: HP:0002675 synonym: "Craniosynostosis (lambdoid and coronal sutures)" EXACT [] xref: UMLS:C0010278 xref: UMLS:C0205123 xref: UMLS:C0224527 xref: UMLS:C1305079 xref: UMLS:C1442871 is_a: HP:0004440 ! Coronal craniosynostosis is_a: HP:0004443 ! Lambdoidal craniosynostosis created_by: peter creation_date: 2008-03-18T10:00:00Z [Term] id: HP:0004442 name: Sagittal craniosynostosis namespace: medical_genetics def: "A kind of `craniosynostosis` (HP:0001363) affecting the sagittal suture." [HPO:probinson] synonym: "Craniosynostosis, sagittal" EXACT [] synonym: "Craniosynostosis, sagittal suture" EXACT [] xref: UMLS:C0010278 xref: UMLS:C0205129 xref: UMLS:C0224526 xref: UMLS:C0432123 xref: UMLS:C1305078 xref: UMLS:C1442871 is_a: HP:0001363 ! Craniosynostosis created_by: peter creation_date: 2008-03-18T10:01:00Z [Term] id: HP:0004443 name: Lambdoidal craniosynostosis namespace: medical_genetics def: "A kind of `craniosynostosis` (HP:0001363) affecting the lambdoidal suture." [HPO:probinson] synonym: "Lambdoid craniosynostosis" EXACT [] xref: UMLS:C0010278 xref: UMLS:C1442871 xref: UMLS:C1833340 is_a: HP:0001363 ! Craniosynostosis created_by: peter creation_date: 2008-03-18T10:01:00Z [Term] id: HP:0004444 name: Spherocytosis namespace: medical_genetics 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:C0037889 xref: UMLS:C0332307 xref: UMLS:C0553720 xref: UMLS:C1412402 xref: UMLS:C1547052 xref: UMLS:C1552651 xref: UMLS:C1556094 xref: UMLS:C1849011 is_a: HP:0004447 ! Poikilocytosis created_by: peter creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004445 name: Elliptocytosis namespace: medical_genetics alt_id: HP:0004837 def: "The presence of elliptical, cigar-shaped erythrocytes on peripheral blood smear." [HPO:probinson, pmid:16304353] synonym: "hemolytic anemia with elliptocytosis" EXACT [] synonym: "Hereditary elliptocytosis" EXACT [] xref: UMLS:C0002878 xref: UMLS:C0013902 xref: UMLS:C0427480 is_a: HP:0004447 ! Poikilocytosis created_by: peter creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004446 name: Stomatocytosis namespace: medical_genetics 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:C0014792 xref: UMLS:C0272048 xref: UMLS:C1969577 is_a: HP:0004447 ! Poikilocytosis created_by: peter creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004447 name: Poikilocytosis namespace: medical_genetics def: "The presence of abnormally shaped `erythrocytes` (CL:0000232)." [HPO:probinson] comment: General description for abnormally shaped erythrocytes. xref: UMLS:C0221281 is_a: HP:0001877 ! Abnormality of erythrocytes created_by: peter creation_date: 2008-03-18T10:06:00Z [Term] id: HP:0004448 name: Fulminant hepatic failure namespace: medical_genetics 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 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 namespace: medical_genetics synonym: "Preauricular skin furrows" EXACT [] xref: UMLS:C0458248 is_a: HP:0000384 ! Preauricular skin tag [Term] id: HP:0004451 name: Pre- and post-auricular skin or cartilaginous tags namespace: medical_genetics xref: UMLS:C0007301 xref: UMLS:C0332152 xref: UMLS:C0442168 xref: UMLS:C0444099 xref: UMLS:C0740175 xref: UMLS:C1123023 xref: UMLS:C1139855 xref: UMLS:C1278993 xref: UMLS:C2257086 is_a: HP:0100278 ! Periauricular skin tag [Term] id: HP:0004452 name: Abnormality of the middle ear ossicles namespace: medical_genetics 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:curators] xref: UMLS:C0000768 xref: UMLS:C1704258 xref: UMLS:C2087668 is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0004453 name: Overfolding of the superior helices namespace: medical_genetics def: "A condition in which the superior portion of the `helix` (FMA:60992) is `folded` (PATO:0001910) over to a greater degree than normal." [HPO:probinson] synonym: "Overfolding of superior helix" EXACT [] synonym: "Reduced anterior-posterior diameter of vertebral bodies" EXACT [] xref: UMLS:C0018882 xref: UMLS:C0223084 xref: UMLS:C0229304 xref: UMLS:C0392756 xref: UMLS:C1282910 xref: UMLS:C1301886 xref: UMLS:C1704821 xref: UMLS:C1705682 xref: UMLS:C1999039 is_a: HP:0000396 ! Overfolded helix [Term] id: HP:0004454 name: abnormal middle ear reflexes namespace: medical_genetics xref: UMLS:C1970887 is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0004455 name: Congenital, slowly progressive sensorineural hearing impairment namespace: medical_genetics def: "A slowly `progressive` (PATO:0001818) form of `congenital sensorineural hearing impairment` (HP:0008620)." [HPO:probinson] synonym: "Congenital, slowly progressive perceptive deafness" EXACT [] xref: UMLS:C0009678 xref: UMLS:C0018784 xref: UMLS:C1744681 xref: UMLS:C1864719 is_a: HP:0008527 ! Congenital sensorineural hearing impairment [Term] id: HP:0004456 name: Prominent ear lobes namespace: medical_genetics alt_id: HP:0004449 def: "Abnormally prominent `ear lobules` (FMA:60984)." [HPO:probinson] synonym: "prominent ear lobules" EXACT [] xref: UMLS:C0013443 xref: UMLS:C0521421 xref: UMLS:C0549207 xref: UMLS:C1846424 xref: UMLS:C1862086 xref: UMLS:C1863308 is_a: HP:0000363 ! Abnormality of ear lobes is_a: HP:0000382 ! Large, prominent ears [Term] id: HP:0004457 name: Non-progressive congenital sensorineural hearing impairment namespace: medical_genetics def: "A `non-progressive` (PATO:0002026) form of `congenital sensorineural hearing impairment` (HP:0008620)." [HPO:probinson] xref: UMLS:C0009678 xref: UMLS:C0205329 xref: UMLS:C1412877 xref: UMLS:C1518422 xref: UMLS:C1744681 xref: UMLS:C1843156 xref: UMLS:C1865866 is_a: HP:0008527 ! Congenital sensorineural hearing impairment [Term] id: HP:0004458 name: bulbous internal auditory canal namespace: medical_genetics def: "The presence of a `bulbous` (PATO:0002210) `inner part of external acoustic meatus` (FMA:61307)." [HPO:probinson] xref: UMLS:C0025148 xref: UMLS:C0149591 xref: UMLS:C1449865 xref: UMLS:C1947952 is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0004459 name: External auditory canal exostoses namespace: medical_genetics xref: UMLS:C0155411 is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0004461 name: Congenital earlobe sinuses namespace: medical_genetics synonym: "Posterior wedging" EXACT [] xref: UMLS:C0009678 xref: UMLS:C1744681 xref: UMLS:C1851895 xref: UMLS:C1969394 is_a: HP:0000363 ! Abnormality of ear lobes [Term] id: HP:0004462 name: abnormal or absent auditory nerve and brainstem responses namespace: medical_genetics synonym: "Absent or decreased auditory brainstem responses" EXACT [] xref: UMLS:C0001162 xref: UMLS:C0006121 xref: UMLS:C0009201 xref: UMLS:C0085854 xref: UMLS:C0205161 xref: UMLS:C0205216 xref: UMLS:C0332197 xref: UMLS:C0392756 xref: UMLS:C0871261 xref: UMLS:C1306665 xref: UMLS:C2347472 is_a: HP:0006958 ! Abnormal auditory evoked potentials [Term] id: HP:0004463 name: absent brainstem auditory responses namespace: medical_genetics synonym: "No auditory brainstem response" EXACT [] xref: UMLS:C0085854 xref: UMLS:C1836742 is_a: HP:0006958 ! Abnormal auditory evoked potentials [Term] id: HP:0004464 name: Posterior auricular pit namespace: medical_genetics def: "Benign congenital lesion of the postauricular soft tissue consisting of a blind-ending narrow tube or pit." [HPO:sdoelken] synonym: "Posterior auricular sinus" EXACT [] xref: UMLS:C0016169 xref: UMLS:C0030471 xref: UMLS:C0205095 xref: UMLS:C1305231 xref: UMLS:C1522191 xref: UMLS:C1549094 xref: UMLS:C1862058 is_a: HP:0100277 ! Periauricular skin pits [Term] id: HP:0004465 name: Malformation of auricle namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0013453 xref: UMLS:C0928075 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0004466 name: prolonged brainstem auditory evoked potentials namespace: medical_genetics xref: UMLS:C0079319 xref: UMLS:C0439590 is_a: HP:0006958 ! Abnormal auditory evoked potentials [Term] id: HP:0004467 name: Preauricular pit namespace: medical_genetics alt_id: HP:0000392 alt_id: HP:0004460 alt_id: HP:0005118 alt_id: HP:0008552 def: "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." [HPO:sdoelken] comment: 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 [] synonym: "Preauricular tag/pit" EXACT [] xref: UMLS:C0175697 xref: UMLS:C0266609 xref: UMLS:C0266610 xref: UMLS:C0266625 xref: UMLS:C0546969 xref: UMLS:C1841855 is_a: HP:0100277 ! Periauricular skin pits [Term] id: HP:0004468 name: Anomalous tracheal cartilage namespace: medical_genetics xref: UMLS:C1863406 is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0004469 name: Chronic bronchitis namespace: medical_genetics xref: UMLS:C0008677 is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0004470 name: occipital cephalocele, atretic namespace: medical_genetics xref: UMLS:C0014065 xref: UMLS:C0243066 xref: UMLS:C1184145 xref: UMLS:C2119047 is_a: HP:0002085 ! Occipital encephalocele [Term] id: HP:0004471 name: Aplasia cutis congenita over the scalp vertex namespace: medical_genetics 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 [] xref: UMLS:C0036270 xref: UMLS:C0230003 xref: UMLS:C0282160 xref: UMLS:C1278997 xref: UMLS:C2240381 is_a: HP:0007385 ! Aplasia cutis congenita of scalp [Term] id: HP:0004472 name: Hyperostoses of calvaria, facial bones, and mandible namespace: medical_genetics def: "Hyperostosis (bony overgrowth) of the calvaria, facial bones, and mandible." [HPO:curators] comment: This bundled term will be made obsolete in future versions of the HPO. xref: UMLS:C0015455 xref: UMLS:C0020492 xref: UMLS:C0024687 xref: UMLS:C0205950 xref: UMLS:C1279059 xref: UMLS:C2239125 is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0004473 name: Large, late-closing fontanelle namespace: medical_genetics def: "An enlargement of the fontanelles and delay of their closure relative to age-dependent norms." [HPO:curators] xref: UMLS:C0549177 xref: UMLS:C1863376 is_a: HP:0000239 ! Large fontanelles [Term] id: HP:0004474 name: Persistent open anterior fontanelle namespace: medical_genetics 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:curators] synonym: "Persistent, open anterior fontanel" EXACT [] xref: UMLS:C1849537 is_a: HP:0001476 ! Delayed closure of the anterior fontanelle [Term] id: HP:0004475 name: Anterior fontanelle open in adults namespace: medical_genetics def: "The anterior fontanelle generally closes by the 18th month of life. This term is diagnosed if the anterior fontanelle is unossified in an adult." [HPO:curators] xref: UMLS:C0001675 xref: UMLS:C0175566 xref: UMLS:C0224549 xref: UMLS:C1305081 is_a: HP:0001476 ! Delayed closure of the anterior fontanelle [Term] id: HP:0004476 name: Aplasia cutis congenita over parietal area namespace: medical_genetics def: "A developmental defect resulting in the congenital absence of skin on the scalp in the parietal area." [HPO:curators] xref: UMLS:C0017446 xref: UMLS:C0205146 xref: UMLS:C0282160 xref: UMLS:C0442030 is_a: HP:0007385 ! Aplasia cutis congenita of scalp [Term] id: HP:0004477 name: occasional clover-leaf skull namespace: medical_genetics xref: UMLS:C1863357 is_a: HP:0002676 ! Cloverleaf skull [Term] id: HP:0004478 name: ethmoidal encephalocele namespace: medical_genetics xref: UMLS:C1843495 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0004479 name: Occasional brachycephaly namespace: medical_genetics xref: UMLS:C1855202 is_a: HP:0000248 ! Brachycephaly [Term] id: HP:0004480 name: Receding or small forehead namespace: medical_genetics comment: This is a bundled term that will be obsoleted in the future. xref: UMLS:C0333047 xref: UMLS:C1845250 is_a: HP:0000340 ! Sloping forehead is_a: HP:0000350 ! Small forehead [Term] id: HP:0004481 name: Macrocephaly, progressive namespace: medical_genetics alt_id: HP:0000261 def: "The progressive development of an abnormally large skull." [HPO:curators] synonym: "Progressive macrocephaly" EXACT [] xref: UMLS:C0205329 xref: UMLS:C0221355 xref: UMLS:C1859896 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004482 name: Relative macrocephaly namespace: medical_genetics 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:C0080103 xref: UMLS:C0205345 xref: UMLS:C0221355 xref: UMLS:C1547039 xref: UMLS:C1835467 xref: UMLS:C1843098 xref: UMLS:C1849075 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004484 name: Craniofacial asymmetry namespace: medical_genetics def: "Asymmetry of the bones of the skull and the face." [HPO:curators] xref: UMLS:C0332514 xref: UMLS:C0596392 is_a: HP:0000267 ! Cranial asymmetry is_a: HP:0000324 ! Facial asymmetry [Term] id: HP:0004485 name: cessation of head growth in affected infants namespace: medical_genetics xref: UMLS:C0018270 xref: UMLS:C0018670 xref: UMLS:C0021270 xref: UMLS:C0220844 xref: UMLS:C0392760 xref: UMLS:C1281590 xref: UMLS:C1314939 xref: UMLS:C1457898 xref: UMLS:C1621966 xref: UMLS:C1880019 is_a: HP:0000241 ! Deceleration of head growth [Term] id: HP:0004486 name: primary coronal and lambdoid craniosynostosis namespace: medical_genetics xref: UMLS:C0010278 xref: UMLS:C0205123 xref: UMLS:C0205225 xref: UMLS:C0439631 xref: UMLS:C1442871 is_a: HP:0004443 ! Lambdoidal craniosynostosis [Term] id: HP:0004487 name: Acrobrachycephaly namespace: medical_genetics 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 is_a: HP:0000248 ! Brachycephaly [Term] id: HP:0004488 name: Macrocephaly at birth namespace: medical_genetics def: "The presence of an abnormally large skull with onset at birth." [HPO:curators] xref: UMLS:C0005615 xref: UMLS:C0221355 xref: UMLS:C1550722 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004489 name: Frontal and occipital prominence namespace: medical_genetics xref: UMLS:C0205123 xref: UMLS:C0205402 xref: UMLS:C1184145 is_a: HP:0002007 ! Frontal bossing [Term] id: HP:0004490 name: Calvarial hyperostosis namespace: medical_genetics def: "Excessive growth of the calvarial bone." [HPO:curators] xref: UMLS:C1863351 is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0004491 name: Large posterior fontanelle namespace: medical_genetics def: "An enlargement of the posterior fontanelle relative to age-dependent norms." [HPO:curators] synonym: "Large posterior fontanel" EXACT [] xref: UMLS:C1855233 is_a: HP:0000239 ! Large fontanelles [Term] id: HP:0004492 name: Widely patent fontanels and sutures namespace: medical_genetics alt_id: HP:0002646 alt_id: HP:0005492 def: "An abnormally increased width of the cranial sutures of striking degree." [HPO:curators] comment: This is a compound term which will be obsoleted in future versions of the HPO. It should not be use for new annotations. xref: UMLS:C0038969 xref: UMLS:C0175566 xref: UMLS:C0456132 xref: UMLS:C0502420 is_a: HP:0000239 ! Large fontanelles is_a: HP:0010537 ! Wide cranial sutures [Term] id: HP:0004493 name: Craniofacial hyperostosis namespace: medical_genetics def: "Hyperostosis refers to a localized bone overgrowth process (as opposed to sclerosis, which refers to a generalized disturbance with increased bone density). This term is used for excessive growth of the craniofacial bones." [HPO:curators] xref: UMLS:C1868085 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0004494 name: Unilateral craniosynostosis namespace: medical_genetics def: "Craniosynostosis of only one side of the skull." [HPO:curators] xref: UMLS:C0010278 xref: UMLS:C0205092 xref: UMLS:C1442871 is_a: HP:0001363 ! Craniosynostosis [Term] id: HP:0004495 name: Thin anteverted nares namespace: medical_genetics comment: This bundled term will be made obsolete in future versions of the HPO and should not be used for new annotations. xref: UMLS:C0205168 xref: UMLS:C1853244 is_a: HP:0000463 ! Nares, anteverted [Term] id: HP:0004496 name: Posterior choanal atresia namespace: medical_genetics def: "Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture)." [HPO:curators] xref: UMLS:C0220723 is_a: HP:0000453 ! Choanal atresia [Term] id: HP:0004497 name: Hypoplastic nostrils namespace: medical_genetics alt_id: HP:0005276 def: "Underdevelopment of the nostrils." [HPO:curators] synonym: "Hypoplastic nares" EXACT [] xref: UMLS:C1856762 xref: UMLS:C1866966 is_a: HP:0003196 ! Nasal hypoplasia [Term] id: HP:0004498 name: prominent, broad nasal bridge namespace: medical_genetics xref: UMLS:C0205402 xref: UMLS:C0332464 xref: UMLS:C1837827 xref: UMLS:C1864688 is_a: HP:0000426 ! Prominent nasal bridge is_a: HP:0000431 ! Broad nasal bridge [Term] id: HP:0004499 name: chronic rhinitis due to narrow nasal airway namespace: medical_genetics xref: UMLS:C0008711 xref: UMLS:C0150683 xref: UMLS:C0332463 xref: UMLS:C0333164 is_a: HP:0002257 ! Chronic rhinitis [Term] id: HP:0004500 name: Broad and high nasal bridge namespace: medical_genetics def: "Increased horizontal and vertical dimensions of the upper, bony part of the nose." [HPO:curators] xref: UMLS:C0332464 xref: UMLS:C1837533 is_a: HP:0000431 ! Broad nasal bridge is_a: HP:0000442 ! High nasal bridge [Term] id: HP:0004501 name: Broad upturned nasal tip namespace: medical_genetics comment: This bundled term will be made obsolete in future versions of the HPO and should not be used for new annotations. synonym: "Broad, upturned nose" EXACT [] xref: UMLS:C1853571 xref: UMLS:C1856338 is_a: HP:0000455 ! Broad nasal tip is_a: HP:0000463 ! Nares, anteverted [Term] id: HP:0004502 name: Bilateral choanal atresia/stenosis namespace: medical_genetics def: "Bilateral absence (atresia) or abnormal narrowing (stenosis) of the choana (the posterior nasal aperture)." [HPO:curators] xref: UMLS:C0008297 xref: UMLS:C0009814 xref: UMLS:C0238767 xref: UMLS:C0678234 xref: UMLS:C0947637 xref: UMLS:C1261287 is_a: HP:0000416 ! Choanal atresia or stenosis [Term] id: HP:0004504 name: high, broad nasal root namespace: medical_genetics xref: UMLS:C0205250 xref: UMLS:C1299351 xref: UMLS:C1866488 is_a: HP:0000424 ! Broad nasal root [Term] id: HP:0004506 name: small nose with low nasal bridge namespace: medical_genetics xref: UMLS:C0426414 xref: UMLS:C1837734 is_a: HP:0000428 ! Low nasal bridge [Term] id: HP:0004507 name: Hypoplastic nares and septum namespace: medical_genetics xref: UMLS:C0936188 xref: UMLS:C1327729 xref: UMLS:C1856762 xref: UMLS:C2362924 is_a: HP:0000430 ! Hypoplastic nasal alae is_a: HP:0005104 ! Hypoplastic nasal septum [Term] id: HP:0004509 name: subclinical defect in pancreatic exocrine function namespace: medical_genetics xref: UMLS:C0205211 xref: UMLS:C0232786 xref: UMLS:C1457869 xref: UMLS:C1861101 is_a: HP:0001738 ! Exocrine pancreatic insufficiency [Term] id: HP:0004510 name: Islets of Langerhans hyperplasia namespace: medical_genetics synonym: "Hyperplastic islets of langerhans" EXACT [] synonym: "Islets of langerhans hypertrophy" EXACT [] xref: UMLS:C0020507 xref: UMLS:C0020564 is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0004514 name: Sparse scalp, axillary, and pubic hair namespace: medical_genetics xref: UMLS:C0004454 xref: UMLS:C0036270 xref: UMLS:C0221988 xref: UMLS:C1278997 xref: UMLS:C1305636 xref: UMLS:C2240381 is_a: HP:0002209 ! Sparse scalp hair is_a: HP:0004518 ! Sparse axillary and pubic hair [Term] id: HP:0004515 name: Generalized trichodysplasia namespace: medical_genetics xref: UMLS:C0205246 is_a: HP:0002552 ! Trichodysplasia [Term] id: HP:0004516 name: absent/abnormal eyelashes and eyebrows namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0015422 xref: UMLS:C0205161 xref: UMLS:C0332197 xref: UMLS:C2077307 xref: UMLS:C2239119 xref: UMLS:C2347472 is_a: HP:0002288 ! Absent eyebrows and eyelashes [Term] id: HP:0004517 name: Hypertrichosis, congenital anterior cervical namespace: medical_genetics def: "Excessive, abnormal hairiness in the anterior cervical (neck) region present at birth." [HPO:curators] xref: UMLS:C0009678 xref: UMLS:C0020555 xref: UMLS:C0442011 xref: UMLS:C1744681 is_a: HP:0004535 ! Anterior cervical hypertrichosis is_a: HP:0004773 ! Congenital cervical hypertrichosis [Term] id: HP:0004518 name: Sparse axillary and pubic hair namespace: medical_genetics xref: UMLS:C0004454 xref: UMLS:C0221988 xref: UMLS:C1305636 is_a: HP:0002215 ! Sparse axillary hair is_a: HP:0009888 ! Abnormality of secondary sexual hair [Term] id: HP:0004519 name: little or no eyebrows, eyelashes or body hair namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0015422 xref: UMLS:C0023882 xref: UMLS:C0700321 xref: UMLS:C2077307 xref: UMLS:C2239119 xref: UMLS:C2371961 is_a: HP:0002222 ! Sparse eyebrows and eyelashes [Term] id: HP:0004520 name: loss of eyebrows and eyelashes namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0015422 xref: UMLS:C1517945 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0002222 ! Sparse eyebrows and eyelashes [Term] id: HP:0004522 name: sparse hair, eyebrows and eyelashes namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0015422 xref: UMLS:C1837770 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0002222 ! Sparse eyebrows and eyelashes is_a: HP:0008070 ! Sparse hair [Term] id: HP:0004523 name: very long eyelashes and eyebrows namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0442824 xref: UMLS:C0854699 xref: UMLS:C1853738 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0000527 ! Long eyelashes [Term] id: HP:0004524 name: Temporal hypotrichosis namespace: medical_genetics def: "Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull)." [HPO:curators] xref: UMLS:C0020678 xref: UMLS:C0442043 xref: UMLS:C2362314 is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004525 name: Congenital hypotrichosis namespace: medical_genetics def: "Congenital lack of hair growth." [HPO:curators] xref: UMLS:C0265993 is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004527 name: large clumps of pigment irregularly distributed along hair shaft namespace: medical_genetics xref: UMLS:C0031916 xref: UMLS:C0205271 xref: UMLS:C0221961 xref: UMLS:C0549177 xref: UMLS:C1283904 xref: UMLS:C1704711 xref: UMLS:C2239267 is_a: HP:0002220 ! Melanin pigment aggregation in hair shafts [Term] id: HP:0004528 name: Generalized hypotrichosis namespace: medical_genetics alt_id: HP:0004513 def: "Reduced or lacking hair growth in a generalized distribution." [HPO:curators] synonym: "Hypotrichosis, generalized" EXACT [] xref: UMLS:C0020678 xref: UMLS:C0205246 is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004529 name: atrophic, patchy alopecia namespace: medical_genetics xref: UMLS:C0151514 xref: UMLS:C0205413 xref: UMLS:C0333641 xref: UMLS:C0544870 xref: UMLS:C1862862 is_a: HP:0002232 ! Patchy alopecia [Term] id: HP:0004530 name: loss of eyebrows, eyelashes and beard namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0015422 xref: UMLS:C0221982 xref: UMLS:C1266881 xref: UMLS:C1280542 xref: UMLS:C1517945 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0002288 ! Absent eyebrows and eyelashes [Term] id: HP:0004531 name: sparse eyebrows, eyelashes, and beard namespace: medical_genetics xref: UMLS:C0015422 xref: UMLS:C0221982 xref: UMLS:C0578682 xref: UMLS:C1266881 xref: UMLS:C1280542 is_a: HP:0002222 ! Sparse eyebrows and eyelashes [Term] id: HP:0004532 name: Sacral, lumbar, or thoracic localized hypertrichosis namespace: medical_genetics def: "Excessive, abnormal hairiness located in the sacral, lumbar or thoracic regions." [HPO:curators] xref: UMLS:C0024090 xref: UMLS:C0036037 xref: UMLS:C0494862 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004533 name: thick, arched eyebrows namespace: medical_genetics synonym: "Broad, arched eyebrows" EXACT [] synonym: "Thick, flared eyebrows" EXACT [] xref: UMLS:C0741204 xref: UMLS:C1517205 xref: UMLS:C1538146 xref: UMLS:C1853487 xref: UMLS:C1856121 is_a: HP:0002553 ! Arched eyebrows [Term] id: HP:0004534 name: dry, sparse scalp hair namespace: medical_genetics xref: UMLS:C0205222 xref: UMLS:C1512080 xref: UMLS:C1857042 is_a: HP:0002209 ! Sparse scalp hair [Term] id: HP:0004535 name: Anterior cervical hypertrichosis namespace: medical_genetics def: "Excessive, abnormal hairiness in the anterior cervical (neck) region." [HPO:curators] xref: UMLS:C1838123 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004536 name: White eyebrows and eyelashes namespace: medical_genetics alt_id: HP:0002228 synonym: "White eyelashes and eyebrows" EXACT [] xref: UMLS:C0007457 xref: UMLS:C0015420 xref: UMLS:C0015422 xref: UMLS:C0043157 xref: UMLS:C0220938 xref: UMLS:C1836736 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0002226 ! White eyebrows is_a: HP:0002227 ! White eyelashes [Term] id: HP:0004537 name: absent pubic and facial hair namespace: medical_genetics xref: UMLS:C0034014 xref: UMLS:C0221980 xref: UMLS:C0239496 xref: UMLS:C0332197 is_a: HP:0002550 ! Absent facial hair is_a: HP:0002555 ! Absent pubic hair [Term] id: HP:0004538 name: fine, sparse, light-colored hair namespace: medical_genetics xref: UMLS:C0205232 xref: UMLS:C0687757 xref: UMLS:C1306462 xref: UMLS:C1837770 is_a: HP:0002213 ! Fine hair is_a: HP:0002286 ! Light colored hair is_a: HP:0008070 ! Sparse hair [Term] id: HP:0004539 name: loss of eyebrows and eyelashes by age 3 years namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0015422 xref: UMLS:C1510829 xref: UMLS:C1517945 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0002288 ! Absent eyebrows and eyelashes [Term] id: HP:0004540 name: Congenital, generalized hypertrichosis namespace: medical_genetics alt_id: HP:0004547 alt_id: HP:0004769 def: "A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth (Hypertrichosis refers to excessive, abnormal hairiness)." [HPO:curators] synonym: "Congenital generalized hypertrichosis" EXACT [] synonym: "Hypertrichosis universalis" EXACT [] xref: UMLS:C0235864 xref: UMLS:C1855900 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004541 name: fragile, thin, and sparse scalp hair namespace: medical_genetics xref: UMLS:C0205168 xref: UMLS:C0302113 xref: UMLS:C1857042 is_a: HP:0002209 ! Sparse scalp hair [Term] id: HP:0004542 name: blonde, sparse scalp hair namespace: medical_genetics xref: UMLS:C1857042 is_a: HP:0002209 ! Sparse scalp hair is_a: HP:0002214 ! Blond hair [Term] id: HP:0004543 name: Persistent generalized hypertrichosis, esp face, ears, and shoulders namespace: medical_genetics def: "Persistent and generalized excessive, abnormal hairiness affecting especially the face, ears, and shoulders." [HPO:curators] xref: UMLS:C0013443 xref: UMLS:C0015373 xref: UMLS:C0015450 xref: UMLS:C0020555 xref: UMLS:C0037004 xref: UMLS:C0037747 xref: UMLS:C0205246 xref: UMLS:C0205322 xref: UMLS:C0521421 xref: UMLS:C1281591 xref: UMLS:C1414437 xref: UMLS:C1421982 is_a: HP:0004554 ! Generalized hypertrichosis [Term] id: HP:0004544 name: Pointed frontal hairline namespace: medical_genetics xref: UMLS:C0205123 xref: UMLS:C1552961 xref: UMLS:C2347617 is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0004545 name: sparse to absent axillary hair namespace: medical_genetics xref: UMLS:C1859392 is_a: HP:0002215 ! Sparse axillary hair is_a: HP:0002221 ! Absent axillary hair [Term] id: HP:0004546 name: broad, bushy eyebrows namespace: medical_genetics synonym: "Broad bushy eyebrows" EXACT [] xref: UMLS:C0330099 xref: UMLS:C1856121 is_a: HP:0000574 ! Thick eyebrows [Term] id: HP:0004548 name: absent hair, eyebrows and eyelashes namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0015422 xref: UMLS:C0574763 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0002288 ! Absent eyebrows and eyelashes [Term] id: HP:0004549 name: absent facial, axillary, body hair namespace: medical_genetics xref: UMLS:C0004454 xref: UMLS:C0015450 xref: UMLS:C0460148 xref: UMLS:C0524465 xref: UMLS:C1268086 xref: UMLS:C1551342 xref: UMLS:C1848192 xref: UMLS:C1859392 is_a: HP:0002221 ! Absent axillary hair is_a: HP:0002550 ! Absent facial hair [Term] id: HP:0004550 name: alopecia, complete, in majority of patients namespace: medical_genetics xref: UMLS:C0002170 xref: UMLS:C0030705 xref: UMLS:C0205197 xref: UMLS:C0680220 xref: UMLS:C0725685 is_a: HP:0002289 ! Alopecia, complete [Term] id: HP:0004551 name: arched, sparse eyebrows namespace: medical_genetics xref: UMLS:C0578682 xref: UMLS:C0741204 xref: UMLS:C1538146 is_a: HP:0000535 ! Sparse eyebrows [Term] id: HP:0004552 name: scarring alopecia of scalp namespace: medical_genetics xref: UMLS:C0036270 xref: UMLS:C0086873 xref: UMLS:C1278997 xref: UMLS:C2240381 is_a: HP:0000987 ! Atypical scarring is_a: HP:0002293 ! Alopecia of scalp [Term] id: HP:0004553 name: thin, slow-growing scalp hair namespace: medical_genetics xref: UMLS:C0036270 xref: UMLS:C0205168 xref: UMLS:C1278997 xref: UMLS:C1832348 xref: UMLS:C2240381 is_a: HP:0002556 ! Thin scalp hair is_a: HP:0100038 ! Slow-growing scalp hair [Term] id: HP:0004554 name: Generalized hypertrichosis namespace: medical_genetics def: "Generalized excessive, abnormal hairiness." [HPO:curators] xref: UMLS:C0020555 xref: UMLS:C0205246 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004555 name: absent or scanty eyelashes and eyebrows namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0015422 xref: UMLS:C0332197 xref: UMLS:C0443295 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0002284 ! Sparse to absent eyelashes [Term] id: HP:0004556 name: absent pubic and axillary hair namespace: medical_genetics xref: UMLS:C0034014 xref: UMLS:C0221984 xref: UMLS:C0332197 xref: UMLS:C1305411 is_a: HP:0002221 ! Absent axillary hair is_a: HP:0002555 ! Absent pubic hair [Term] id: HP:0004557 name: Anterior vertebral fusion namespace: medical_genetics xref: UMLS:C1969393 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0004558 name: cervical platyspondyly namespace: medical_genetics xref: UMLS:C1856641 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004559 name: flat oval-shaped vertebral bodies namespace: medical_genetics xref: UMLS:C1837484 is_a: HP:0003300 ! Ovoid vertebral bodies [Term] id: HP:0004562 name: beaking of vertebral bodies t12-l3 namespace: medical_genetics xref: UMLS:C0054967 xref: UMLS:C0223084 xref: UMLS:C1179696 xref: UMLS:C1179700 xref: UMLS:C1422392 xref: UMLS:C1549876 is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0004563 name: increased spinal bone density namespace: medical_genetics def: "Increased bone density affecting the bones of the spine (vertebral column)." [HPO:curators] synonym: "increased spinal bone density Z" RELATED [] xref: UMLS:C0005938 xref: UMLS:C0029053 xref: UMLS:C0205217 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0442805 xref: UMLS:C0521329 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1553023 is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0004565 name: severe platyspondyly namespace: medical_genetics alt_id: HP:0004564 synonym: "platyspondyly, extreme" EXACT [] xref: UMLS:C0205403 xref: UMLS:C1850293 xref: UMLS:C1865023 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004566 name: Pear-shaped vertebrae namespace: medical_genetics xref: UMLS:C1849076 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004568 name: Beaking of vertebral bodies namespace: medical_genetics alt_id: HP:0003315 synonym: "Beaked vertebral bodies" EXACT [] synonym: "Wedged vertebrae" EXACT [] xref: UMLS:C0223084 xref: UMLS:C0264112 xref: UMLS:C1856599 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004569 name: flattening and anterior beaking of vertebral bodies namespace: medical_genetics xref: UMLS:C0016203 xref: UMLS:C0205094 xref: UMLS:C0223084 is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0004570 name: Increased vertebral height namespace: medical_genetics xref: UMLS:C1855417 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004571 name: widening of cervical spinal canal namespace: medical_genetics synonym: "Multiple congenital contractures" EXACT [] xref: UMLS:C0003886 xref: UMLS:C0223104 xref: UMLS:C0332464 xref: UMLS:C1278637 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0004573 name: wedge-shaped 11th or 12th thoracic vertebrae namespace: medical_genetics xref: UMLS:C0039987 xref: UMLS:C0332503 is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0004575 name: fusion of midcervical facet joints namespace: medical_genetics xref: UMLS:C0224521 xref: UMLS:C0332466 xref: UMLS:C1293131 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004576 name: Sclerotic vertebral endplates namespace: medical_genetics def: "Sclerosis (increased density) affecting vertebral end plates." [HPO:curators] synonym: "Large joint contractures" EXACT [] xref: UMLS:C1849273 xref: UMLS:C1859698 is_a: HP:0001371 ! Contractures is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0004577 name: anterior flattening and/or beaking of vertebrae namespace: medical_genetics xref: UMLS:C0016203 xref: UMLS:C0205094 xref: UMLS:C0549207 is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0004578 name: Mild vertebral body sclerosis namespace: medical_genetics xref: UMLS:C1840416 is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0004580 name: Anterior scalloping of vertebral bodies namespace: medical_genetics def: "An excessive concavity of the anterior surface of one or more vertebral bodies." [HPO:curators] synonym: "Anterior scalloping vertebral bodies" RELATED [] xref: UMLS:C0205094 xref: UMLS:C0223084 xref: UMLS:C0456688 is_a: HP:0004620 ! Scalloping of vertebral bodies [Term] id: HP:0004581 name: Increased anterior vertebral height namespace: medical_genetics xref: UMLS:C1866732 is_a: HP:0004570 ! Increased vertebral height [Term] id: HP:0004582 name: Mild irregularity of vertebral bodies namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C0223084 xref: UMLS:C0547040 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004583 name: mild irregularity of vertebral endplates namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C0547040 xref: UMLS:C0549207 is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0004586 name: Biconcave vertebral bodies namespace: medical_genetics alt_id: HP:0004561 synonym: "biconcave vertebrae" EXACT [] xref: UMLS:C0223084 xref: UMLS:C0750210 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004588 name: lumbar platyspondyly, mild namespace: medical_genetics xref: UMLS:C0024090 xref: UMLS:C0547040 xref: UMLS:C1865023 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004589 name: Dysplasia of second lumbar vertebra namespace: medical_genetics xref: UMLS:C0223507 xref: UMLS:C0334044 is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0004590 name: Hypoplastic sacrum namespace: medical_genetics xref: UMLS:C1970816 is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum [Term] id: HP:0004591 name: Disc-like vertebral bodies namespace: medical_genetics xref: UMLS:C0180459 xref: UMLS:C0223084 xref: UMLS:C0993608 xref: UMLS:C1556138 xref: UMLS:C1705229 xref: UMLS:C1705370 xref: UMLS:C2348299 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004592 name: thoracic platyspondyly namespace: medical_genetics xref: UMLS:C1862428 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004594 name: hump-shaped mound of bone in central and posterior portions of vertebral endplate namespace: medical_genetics xref: UMLS:C0205095 xref: UMLS:C0205099 xref: UMLS:C0262950 xref: UMLS:C0332479 xref: UMLS:C0391978 xref: UMLS:C0449719 xref: UMLS:C0522512 xref: UMLS:C0549207 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1879652 is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0004595 name: platyspondyly with anterior wedging namespace: medical_genetics xref: UMLS:C1865023 xref: UMLS:C1970084 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004597 name: congenital spinal stenosis due to short pedicles namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0037944 xref: UMLS:C0332885 xref: UMLS:C0456605 xref: UMLS:C0521329 xref: UMLS:C1744681 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0004598 name: platyspondyly with multiple extra ossification centers namespace: medical_genetics xref: UMLS:C0439064 xref: UMLS:C1184744 xref: UMLS:C1305744 xref: UMLS:C1865023 is_a: HP:0000926 ! Platyspondyly is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0004599 name: Absent or minimally ossified vertebral bodies namespace: medical_genetics xref: UMLS:C0223084 xref: UMLS:C0231556 xref: UMLS:C0332197 xref: UMLS:C0547040 xref: UMLS:C1524031 is_a: HP:0100569 ! Abnormality of ossification/mineralisation of vertebrae [Term] id: HP:0004601 name: spina bifida occulta at l5 or s1 namespace: medical_genetics xref: UMLS:C0080174 xref: UMLS:C1969618 is_a: HP:0003298 ! Spina bifida occulta [Term] id: HP:0004602 name: cervical vertebral fusion, c2-c3 namespace: medical_genetics def: "Fusion of cervical vertebrae, most common of the vertebrae 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:curators] synonym: "Klippel-Feil syndrome" EXACT [] xref: UMLS:C0022738 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004603 name: Hyperconvex vertebral body endplates namespace: medical_genetics xref: UMLS:C0223084 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004605 name: Absent vertebral body mineralization namespace: medical_genetics xref: UMLS:C1860191 is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies [Term] id: HP:0004606 name: Unossified vertebral bodies namespace: medical_genetics alt_id: HP:0008427 synonym: "Vertebral bodies often unossified" EXACT [] xref: UMLS:C0223084 xref: UMLS:C0332183 xref: UMLS:C1860202 is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies [Term] id: HP:0004607 name: anterior beaking of lower thoracic and lumbar vertebrae namespace: medical_genetics xref: UMLS:C0024091 xref: UMLS:C0205094 xref: UMLS:C0441994 is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0004608 name: Anteriorly placed odontoid process namespace: medical_genetics def: "`Anterior mislocalization` (PATO:0001921) of the `dens of the axis` (FMA:24043)." [HPO:probinson] xref: UMLS:C0028881 xref: UMLS:C0205094 xref: UMLS:C0442504 xref: UMLS:C1269060 is_a: HP:0003310 ! Abnormality of the odontoid process [Term] id: HP:0004609 name: Patchy distortion of vertebrae namespace: medical_genetics xref: UMLS:C0205413 xref: UMLS:C0332482 xref: UMLS:C0549207 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004610 name: narrow lumbar spinal canal namespace: medical_genetics xref: UMLS:C0223491 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1281715 is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0004611 name: Anterior concavity of thoracic vertebrae namespace: medical_genetics synonym: "Anteriorly concave vertebrae" EXACT [] xref: UMLS:C0039987 xref: UMLS:C0205094 xref: UMLS:C0521162 xref: UMLS:C0549207 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004612 name: cervical spine segmentation defects namespace: medical_genetics xref: UMLS:C1862415 is_a: HP:0003422 ! Vertebral segmentation defects [Term] id: HP:0004614 name: spina bifida occulta at s1 namespace: medical_genetics xref: UMLS:C0080174 is_a: HP:0003298 ! Spina bifida occulta [Term] id: HP:0004615 name: mild thoracic scoliosis namespace: medical_genetics xref: UMLS:C1857630 is_a: HP:0002943 ! Thoracic scoliosis [Term] id: HP:0004616 name: Cleft vertebral arches namespace: medical_genetics xref: UMLS:C1859458 is_a: HP:0008438 ! Vertebral arch abnormalities [Term] id: HP:0004617 name: Butterfly vertebral arch namespace: medical_genetics def: "Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends." [HPO:curators] xref: UMLS:C1861627 is_a: HP:0008438 ! Vertebral arch abnormalities [Term] id: HP:0004618 name: Sandwich appearance of vertebral bodies namespace: medical_genetics xref: UMLS:C0223084 xref: UMLS:C0233426 xref: UMLS:C0700364 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004619 name: lumbar kyphoscoliosis namespace: medical_genetics xref: UMLS:C1834953 is_a: HP:0002751 ! Kyphoscoliosis is_a: HP:0004626 ! Lumbar scoliosis is_a: HP:0008454 ! Lumbar kyphosis [Term] id: HP:0004620 name: Scalloping of vertebral bodies namespace: medical_genetics def: "Scalloping of vertebral bodies is characterized by exaggerated concavity of the posterior surface, which may result from different causes. The word scalloping refers to the radiating fluted pattern of the shell of the scallop." [HPO:curators] xref: UMLS:C0223084 xref: UMLS:C0456688 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004621 name: Large, flattened vertebrae with large pedicles namespace: medical_genetics xref: UMLS:C0456605 xref: UMLS:C0549177 xref: UMLS:C1844704 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004622 name: Progressive intervertebral space narrowing namespace: medical_genetics def: "A `progressive` (PATO:0001818) form of `decreased height` (PATO:0000569) of the `intervertebral disk` (FMA:10446)." [HPO:probinson] xref: UMLS:C1837670 is_a: HP:0002945 ! Intervertebral space narrowing [Term] id: HP:0004625 name: Biconvex vertebral bodies namespace: medical_genetics xref: UMLS:C1866675 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004626 name: Lumbar scoliosis namespace: medical_genetics xref: UMLS:C0024090 xref: UMLS:C0036439 xref: UMLS:C0559260 xref: UMLS:C0700208 is_a: HP:0002944 ! Thoracolumbar scoliosis [Term] id: HP:0004628 name: progressive endplate irregularity namespace: medical_genetics xref: UMLS:C1837669 is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0004629 name: small cervical vertebral bodies namespace: medical_genetics xref: UMLS:C1851130 is_a: HP:0002773 ! Small vertebral bodies [Term] id: HP:0004630 name: anterior beaking of thoracic and lumbar vertebrae namespace: medical_genetics xref: UMLS:C0024091 xref: UMLS:C0205094 is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0004631 name: Decreased cervical spine flexion due to contractures of posterior cervical muscles namespace: medical_genetics synonym: "Contracture of post-cervical muscles" EXACT [] xref: UMLS:C0009917 xref: UMLS:C0026845 xref: UMLS:C0205064 xref: UMLS:C0205095 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0687676 xref: UMLS:C1704687 xref: UMLS:C1995013 xref: UMLS:C2026936 xref: UMLS:C2117118 is_a: HP:0001371 ! Contractures [Term] id: HP:0004632 name: cervical segmentation defects namespace: medical_genetics xref: UMLS:C0205064 xref: UMLS:C0243067 xref: UMLS:C0441635 xref: UMLS:C0700381 xref: UMLS:C1524109 is_a: HP:0003422 ! Vertebral segmentation defects [Term] id: HP:0004633 name: lower thoracic kyphosis namespace: medical_genetics xref: UMLS:C1864361 is_a: HP:0002942 ! Thoracic kyphosis [Term] id: HP:0004634 name: Cuboid-shaped vertebral bodies namespace: medical_genetics synonym: "Cuboid vertebral bodies" EXACT [] xref: UMLS:C0223084 xref: UMLS:C0332479 xref: UMLS:C0376381 xref: UMLS:C0522512 xref: UMLS:C1279125 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004635 name: cervical vertebrae fusion, usually at c5 to c6 namespace: medical_genetics xref: UMLS:C0022738 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004636 name: fusion of cervical vertebrae, most often c2-3 namespace: medical_genetics xref: UMLS:C0332183 xref: UMLS:C0332466 xref: UMLS:C0728985 xref: UMLS:C1293131 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004637 name: decreased cervical spine mobility namespace: medical_genetics xref: UMLS:C1859692 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0004639 name: Elevated amniotic fluid alpha-fetoprotein namespace: medical_genetics def: "An elevation of alpha-feto protein measured in the amniotic fluid." [HPO:curators] xref: UMLS:C1839860 is_a: HP:0006254 ! Elevated alpha-fetoprotein [Term] id: HP:0004640 name: coarse facial features over time namespace: medical_genetics xref: UMLS:C0040223 xref: UMLS:C1854600 is_a: HP:0000280 ! Coarse facial features [Term] id: HP:0004641 name: frontal and biparietal bossing namespace: medical_genetics xref: UMLS:C0205123 xref: UMLS:C1857126 is_a: HP:0000242 ! Parietal bossing [Term] id: HP:0004644 name: Mild maxillary hypoplasia namespace: medical_genetics def: "A mild degree of HPO_0000327_Maxillary_hypoplasia." [HPO:probinson] xref: UMLS:C1848099 is_a: HP:0000327 ! Hypoplasia of the maxilla [Term] id: HP:0004645 name: triangular face with age namespace: medical_genetics xref: UMLS:C0001779 xref: UMLS:C1835884 is_a: HP:0000325 ! Triangular facies [Term] id: HP:0004646 name: Hypoplasia of the nasal bone namespace: medical_genetics def: "Underdevelopment of the `nasal bone` (FMA:52745)." [HPO:probinson] synonym: "Nasal bone hypoplasia" EXACT [] xref: UMLS:C0027422 xref: UMLS:C0243069 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0543481 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1279057 xref: UMLS:C1844856 is_a: HP:0003196 ! Nasal hypoplasia is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone [Term] id: HP:0004647 name: Long, myopathic facies namespace: medical_genetics xref: UMLS:C1848656 is_a: HP:0002058 ! Myopathic facies [Term] id: HP:0004648 name: Prominent chin with central dimple namespace: medical_genetics xref: UMLS:C0205099 xref: UMLS:C0266075 xref: UMLS:C0332471 xref: UMLS:C1879652 is_a: HP:0000303 ! Mandibular prognathia [Term] id: HP:0004650 name: Broad nasal root and tip namespace: medical_genetics xref: UMLS:C1710425 xref: UMLS:C1825626 xref: UMLS:C1825978 xref: UMLS:C1866488 is_a: HP:0000424 ! Broad nasal root [Term] id: HP:0004654 name: prominent, long philtrum namespace: medical_genetics xref: UMLS:C0205166 xref: UMLS:C0205402 xref: UMLS:C1706317 xref: UMLS:C1846177 xref: UMLS:C1865014 is_a: HP:0000305 ! Prominent philtrum [Term] id: HP:0004655 name: facial dysmorphism may occur namespace: medical_genetics xref: UMLS:C0266617 xref: UMLS:C1709305 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0004656 name: Mild mandibular prognathism namespace: medical_genetics synonym: "Narrowed external ear canal" EXACT [] xref: UMLS:C0013444 xref: UMLS:C0333164 xref: UMLS:C1862307 is_a: HP:0000303 ! Mandibular prognathia [Term] id: HP:0004659 name: Broad and flat forehead namespace: medical_genetics def: "The presence of a forehead with abnormally increased width and flatness." [HPO:curators] xref: UMLS:C0016540 xref: UMLS:C0205324 xref: UMLS:C0332464 xref: UMLS:C0457933 xref: UMLS:C2226974 is_a: HP:0000337 ! Broad forehead is_a: HP:0004425 ! Flattened forehead [Term] id: HP:0004660 name: hypoplasia of facial musculature namespace: medical_genetics xref: UMLS:C0015450 xref: UMLS:C0243069 xref: UMLS:C0524465 xref: UMLS:C0543481 xref: UMLS:C1995013 is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0004661 name: Frontalis muscle weakness namespace: medical_genetics def: "Reduced strength of the frontalis muscle (which is located on the forehead)." [HPO:curators] synonym: "Weak frontalis muscle" EXACT [] xref: UMLS:C1845121 xref: UMLS:C1859438 is_a: HP:0010628 ! Facial nerve palsy [Term] id: HP:0004662 name: small, triangular facies namespace: medical_genetics xref: UMLS:C0205119 xref: UMLS:C0700321 xref: UMLS:C1842709 xref: UMLS:C1849786 is_a: HP:0000325 ! Triangular facies [Term] id: HP:0004663 name: long, broad, and smooth philtrum namespace: medical_genetics xref: UMLS:C0205166 xref: UMLS:C0332464 xref: UMLS:C1706317 xref: UMLS:C1853621 is_a: HP:0000299 ! Long, smooth philtrum [Term] id: HP:0004664 name: Facial midline hemangioma namespace: medical_genetics def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face." [HPO:curators] xref: UMLS:C1862496 is_a: HP:0000329 ! Facial hemangioma [Term] id: HP:0004665 name: Everted prominent lower lip namespace: medical_genetics xref: UMLS:C0015211 xref: UMLS:C1839739 is_a: HP:0000179 ! Thick lower lip vermilion [Term] id: HP:0004666 name: Broad and depressed nasal bridge namespace: medical_genetics alt_id: HP:0004413 alt_id: HP:0004505 alt_id: HP:0005119 synonym: "Broad, low nasal bridge" EXACT [] synonym: "Deep, broad nasal bridge" EXACT [] xref: UMLS:C0205125 xref: UMLS:C0205251 xref: UMLS:C0332464 xref: UMLS:C1299352 xref: UMLS:C1550472 xref: UMLS:C1836542 xref: UMLS:C1837734 xref: UMLS:C1864688 is_a: HP:0000428 ! Low nasal bridge is_a: HP:0000431 ! Broad nasal bridge [Term] id: HP:0004668 name: triangular facies later in life namespace: medical_genetics xref: UMLS:C1835760 is_a: HP:0000325 ! Triangular facies [Term] id: HP:0004670 name: Facial muscle weakness, mild-to-moderate namespace: medical_genetics def: "A mild to moderate degree of weakness of the facial muscles." [HPO:curators] comment: This term will be made obsolete and the annotation files will be updated to reflect mild-to-moderate severity. xref: UMLS:C0427055 xref: UMLS:C1299392 is_a: HP:0000353 ! Facial muscle weakness, mild is_a: HP:0200004 ! Facial muscle weakness, moderate [Term] id: HP:0004673 name: Decreased facial expression namespace: medical_genetics xref: UMLS:C1862474 is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0004674 name: high, narrow forehead namespace: medical_genetics xref: UMLS:C0205250 xref: UMLS:C0239676 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1299351 xref: UMLS:C1839127 is_a: HP:0000341 ! Narrow forehead [Term] id: HP:0004675 name: Minor facial dysmorphism namespace: medical_genetics alt_id: HP:0004643 alt_id: HP:0004649 alt_id: HP:0004652 alt_id: HP:0005124 def: "The presence of a mild degree of facial dysmorphism." [HPO:curators] synonym: "Mild facial dysmorphia" EXACT [] synonym: "mild facial dysmorphism may occur" EXACT [] synonym: "Mildly dysmorphic facies" EXACT [] synonym: "Minor dysmorphic facies" EXACT [] xref: UMLS:C0026193 xref: UMLS:C0205165 xref: UMLS:C0266617 xref: UMLS:C0424503 xref: UMLS:C0547040 xref: UMLS:C0750532 xref: UMLS:C1709305 is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0004676 name: prominent supraorbital arches in adult namespace: medical_genetics xref: UMLS:C0001675 xref: UMLS:C0205402 xref: UMLS:C0741204 xref: UMLS:C1538146 xref: UMLS:C1706450 is_a: HP:0000336 ! Prominent supraorbital ridges [Term] id: HP:0004677 name: steep, narrow forehead namespace: medical_genetics xref: UMLS:C1839127 is_a: HP:0000341 ! Narrow forehead [Term] id: HP:0004679 name: Large tarsal bones namespace: medical_genetics xref: UMLS:C1859116 is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0004680 name: short first metatarsal namespace: medical_genetics synonym: "First metatarsal hypoplasia" EXACT [] synonym: "First metatarsals hypoplastic" EXACT [] xref: UMLS:C1841688 xref: UMLS:C1866003 is_a: HP:0010743 ! Hypoplasia of the metatarsal bones [Term] id: HP:0004681 name: Longitudinal groove on soles namespace: medical_genetics xref: UMLS:C0205127 xref: UMLS:C0230463 xref: UMLS:C1184482 is_a: HP:0001760 ! Abnormality of the feet is_a: HP:0010613 ! Minor feet anomalies [Term] id: HP:0004684 name: ankle valgus deformity namespace: medical_genetics xref: UMLS:C1868564 is_a: HP:0001848 ! Calcaneovalgus deformities is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0004686 name: short third, fourth, fifth metatarsals namespace: medical_genetics xref: UMLS:C0205437 xref: UMLS:C0205438 xref: UMLS:C0224009 xref: UMLS:C0459705 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0010743 ! Hypoplasia of the metatarsal bones [Term] id: HP:0004688 name: Irregular tarsal bones namespace: medical_genetics xref: UMLS:C1855240 is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0004689 name: short fourth metatarsals namespace: medical_genetics synonym: "Bilateral fourth metatarsal shortening" EXACT [] synonym: "Short fourth metatarsus" EXACT [] xref: UMLS:C0025590 xref: UMLS:C0205438 xref: UMLS:C0224001 xref: UMLS:C0238767 xref: UMLS:C0441636 xref: UMLS:C1806781 xref: UMLS:C1848514 xref: UMLS:C2350002 is_a: HP:0010743 ! Hypoplasia of the metatarsal bones [Term] id: HP:0004690 name: Thickened Achilles tendon namespace: medical_genetics def: "An abnormal thickening of the `Achilles tendon` (FMA:51061)." [HPO:probinson] xref: UMLS:C0919997 is_a: HP:0005109 ! Abnormality of the Achilles tendon [Term] id: HP:0004691 name: 2-3 toe syndactyly namespace: medical_genetics 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:0008086 alt_id: HP:0008123 def: "`Syndactyly` (HP:0001159) 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 cutaneous 2-3 toe syndactyly" EXACT [] synonym: "partial or complete syndactyly 2nd-3rd toes" EXACT [] synonym: "Syndactyly (2-3) (feet)" EXACT [] synonym: "Syndactyly of second and third toes" EXACT [] xref: UMLS:C0016504 xref: UMLS:C0039075 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0221912 xref: UMLS:C0225317 xref: UMLS:C0265660 xref: UMLS:C0347981 xref: UMLS:C0457385 xref: UMLS:C0565930 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1261101 xref: UMLS:C1522192 xref: UMLS:C1522447 xref: UMLS:C1550516 xref: UMLS:C1561503 xref: UMLS:C1705190 xref: UMLS:C1861364 xref: UMLS:C1861921 xref: UMLS:C1867117 xref: UMLS:C2117411 xref: UMLS:C2348168 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0004692 name: 4-5 toe syndactyly namespace: medical_genetics alt_id: HP:0005826 alt_id: HP:0005861 def: "`Syndactyly` (HP:0001159) 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 [] xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0265660 xref: UMLS:C0332516 xref: UMLS:C2117411 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0004695 name: calcaneal epiphyseal stippling namespace: medical_genetics xref: UMLS:C1861708 is_a: HP:0010655 ! Stippling of the epiphyses is_a: HP:0010656 ! Abnormality of the mineralisation or ossification of the epiphyses [Term] id: HP:0004696 name: talipes cavus equinovarus namespace: medical_genetics xref: UMLS:C1832342 is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0004698 name: postaxial polydactyly fingers/toes namespace: medical_genetics def: "Supernumerary digits located at the ulnar side of the hand or fibular/lateral side of the foot." [HPO:sdoelken] xref: UMLS:C0040357 xref: UMLS:C0431904 is_a: HP:0001162 ! Postaxial polydactyly (hands) [Term] id: HP:0004699 name: Osteoporotic metatarsal namespace: medical_genetics xref: UMLS:C1836873 is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0004700 name: short, broad laterally deviated halluces namespace: medical_genetics xref: UMLS:C0012727 xref: UMLS:C0205093 xref: UMLS:C0332464 xref: UMLS:C1851135 is_a: HP:0001861 ! Short, broad hallux [Term] id: HP:0004701 name: Hypoplasia of the toes namespace: medical_genetics alt_id: HP:0001767 alt_id: HP:0001855 alt_id: HP:0008099 def: "Underdevelopment of the toes." [HPO:curators] synonym: "Hypoplastic or dysplastic toes" EXACT [] synonym: "Hypoplastic toes" EXACT [] synonym: "Short phalanges (feet)" EXACT [] synonym: "Short toes" EXACT [] xref: UMLS:C0016504 xref: UMLS:C0040357 xref: UMLS:C0243069 xref: UMLS:C0334045 xref: UMLS:C0347981 xref: UMLS:C0543481 xref: UMLS:C1835156 xref: UMLS:C1836195 xref: UMLS:C1837680 is_a: HP:0001991 ! Aplasia/Hypoplasia of the toes [Term] id: HP:0004703 name: 2-3 or 4-5 toe syndactyly namespace: medical_genetics xref: UMLS:C0265660 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0004704 name: short 4th and 5th metatarsals namespace: medical_genetics alt_id: HP:0004702 synonym: "variable shortening 4th-5th metatarsals" EXACT [] xref: UMLS:C0025584 xref: UMLS:C0205438 xref: UMLS:C0205439 xref: UMLS:C1806781 xref: UMLS:C1862167 xref: UMLS:C2350002 is_a: HP:0010743 ! Hypoplasia of the metatarsal bones [Term] id: HP:0004710 name: medially deviated, broad great toes namespace: medical_genetics xref: UMLS:C0012727 xref: UMLS:C0205098 xref: UMLS:C1867131 is_a: HP:0010055 ! Broad hallux [Term] id: HP:0004711 name: Shortening of the achilles tendon namespace: medical_genetics xref: UMLS:C0001074 xref: UMLS:C0441636 xref: UMLS:C1305378 is_a: HP:0001771 ! Achilles tendon contracture [Term] id: HP:0004712 name: Malrotation of the kidney namespace: medical_genetics alt_id: HP:0004730 synonym: "Abnormal rotation of the kidneys" EXACT [] xref: UMLS:C0022646 xref: UMLS:C0035868 xref: UMLS:C0205161 xref: UMLS:C0677597 xref: UMLS:C1278978 xref: UMLS:C1857947 xref: UMLS:C2117331 xref: UMLS:C2347472 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0004713 name: renal failure, reversible namespace: medical_genetics xref: UMLS:C0035078 xref: UMLS:C0205343 xref: UMLS:C1963154 is_a: HP:0000083 ! Renal failure [Term] id: HP:0004714 name: renal biopsy shows tubulointerstitial fibrosis namespace: medical_genetics xref: UMLS:C0194073 xref: UMLS:C1547282 xref: UMLS:C1969372 is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0004716 name: Enlarged polycystic kidneys namespace: medical_genetics xref: UMLS:C0542518 is_a: HP:0000105 ! Enlarged kidneys is_a: HP:0000113 ! Polycystic kidney dysplasia [Term] id: HP:0004717 name: Axial malrotation of the kidney namespace: medical_genetics xref: UMLS:C0022646 xref: UMLS:C0205131 xref: UMLS:C1278978 xref: UMLS:C1857947 is_a: HP:0004712 ! Malrotation of the kidney [Term] id: HP:0004718 name: nephrotic syndrome, progressing to endstage kidney disease namespace: medical_genetics xref: UMLS:C0022658 xref: UMLS:C0027726 xref: UMLS:C0260532 xref: UMLS:C1280477 xref: UMLS:C2186530 is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0004719 name: Enlarged, hyperechogenic kidneys namespace: medical_genetics xref: UMLS:C0022646 xref: UMLS:C0442800 xref: UMLS:C1293134 is_a: HP:0000105 ! Enlarged kidneys [Term] id: HP:0004720 name: end-stage renal disease develops in childhood namespace: medical_genetics xref: UMLS:C0022661 xref: UMLS:C0231335 xref: UMLS:C1999145 is_a: HP:0003774 ! End stage renal disease [Term] id: HP:0004721 name: Renal dysplasia/aplasia namespace: medical_genetics synonym: "Renal adysplasia" EXACT [] xref: UMLS:C0022646 xref: UMLS:C0243065 xref: UMLS:C0266313 xref: UMLS:C0334079 is_a: HP:0000110 ! Renal dysplasia [Term] id: HP:0004722 name: Thickening of the glomerular basement membrane on renal biopsy namespace: medical_genetics xref: UMLS:C0194073 xref: UMLS:C0205400 xref: UMLS:C0599297 is_a: HP:0000095 ! Morphological abnormalities of the glomeruli [Term] id: HP:0004723 name: a subset of patients develop renal insufficiency with decreased creatinine clearance namespace: medical_genetics xref: UMLS:C0030705 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0812399 xref: UMLS:C1565489 xref: UMLS:C1999145 is_a: HP:0000120 ! Reduced creatinine clearance [Term] id: HP:0004724 name: calcium nephrolithiasis namespace: medical_genetics xref: UMLS:C1855801 is_a: HP:0000787 ! Kidney stones [Term] id: HP:0004725 name: chronic/endstage renal failure namespace: medical_genetics xref: UMLS:C0035078 xref: UMLS:C0205191 xref: UMLS:C1547296 xref: UMLS:C1555457 xref: UMLS:C1963154 is_a: HP:0000101 ! Chronic renal failure [Term] id: HP:0004727 name: impaired renal concentrating ability namespace: medical_genetics xref: UMLS:C1859819 is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0004728 name: diffuse mesangial sclerosis glomerulopathy namespace: medical_genetics xref: UMLS:C1860271 is_a: HP:0001967 ! Diffuse mesangial sclerosis [Term] id: HP:0004729 name: nephritis, acute tubulointerstitial namespace: medical_genetics xref: UMLS:C0027697 xref: UMLS:C0205178 is_a: HP:0001970 ! Tubulointerstitial nephritis [Term] id: HP:0004732 name: impaired renal uric acid clearance namespace: medical_genetics xref: UMLS:C1969371 is_a: HP:0000082 ! Abnormality of renal physiology [Term] id: HP:0004734 name: Renal cortical microcysts namespace: medical_genetics synonym: "Cortical microcysts" EXACT [] synonym: "Multiple renal cortical microcysts" EXACT [] xref: UMLS:C0439064 xref: UMLS:C1859232 xref: UMLS:C1865877 is_a: HP:0000803 ! Renal cortical cysts [Term] id: HP:0004735 name: Structural anomalies of the renal tract namespace: medical_genetics xref: UMLS:C0022646 xref: UMLS:C0749075 xref: UMLS:C1185740 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0004736 name: Ectopic kidney with fusion namespace: medical_genetics xref: UMLS:C0238207 xref: UMLS:C0332466 xref: UMLS:C1293131 is_a: HP:0000086 ! Ectopic kidney [Term] id: HP:0004737 name: global glomerulosclerosis namespace: medical_genetics xref: UMLS:C1865276 is_a: HP:0000096 ! Glomerulosclerosis [Term] id: HP:0004738 name: progression to end stage renal failure in late adulthood namespace: medical_genetics xref: UMLS:C0022661 xref: UMLS:C0205087 xref: UMLS:C0242656 xref: UMLS:C0449258 xref: UMLS:C0700597 is_a: HP:0000106 ! Progressive renal insufficiency [Term] id: HP:0004741 name: hypoplastic/dysplastic kidney namespace: medical_genetics xref: UMLS:C0266313 xref: UMLS:C0543481 is_a: HP:0000089 ! Renal hypoplasia [Term] id: HP:0004742 name: Abnormality of the renal collecting system namespace: medical_genetics alt_id: HP:0004731 def: "An abnormality of the `renal collecting system` (FMA:265239)." [HPO:probinson] synonym: "Abnormal collecting system" EXACT [] synonym: "Renal collecting system anomalies" EXACT [] xref: UMLS:C0000768 xref: UMLS:C1442314 xref: UMLS:C1704258 xref: UMLS:C1851303 xref: UMLS:C1862049 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0004743 name: chronic tubulointerstitial nephritis namespace: medical_genetics xref: UMLS:C0238304 is_a: HP:0001970 ! Tubulointerstitial nephritis [Term] id: HP:0004745 name: Ipsilateral renal agenesis namespace: medical_genetics xref: UMLS:C1840004 is_a: HP:0000104 ! Renal agenesis [Term] id: HP:0004746 name: membranoproliferative glomerulonephritis type ii namespace: medical_genetics synonym: "Severe fat maldigestion" EXACT [] xref: UMLS:C0268743 xref: UMLS:C1850085 is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0004747 name: focal glomerulosclerosis namespace: medical_genetics xref: UMLS:C0017668 is_a: HP:0000096 ! Glomerulosclerosis [Term] id: HP:0004748 name: juvenile nephronophthisis namespace: medical_genetics xref: UMLS:C1855681 is_a: HP:0000090 ! Nephronophthisis [Term] id: HP:0004749 name: Atrial fibrillation or flutter namespace: medical_genetics xref: UMLS:C0004238 xref: UMLS:C0016385 xref: UMLS:C1963067 xref: UMLS:C2041124 xref: UMLS:C2108067 xref: UMLS:C2242390 is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0004751 name: Paroxysmal ventricular tachycardia namespace: medical_genetics xref: UMLS:C0030591 is_a: HP:0004756 ! Ventricular tachycardia [Term] id: HP:0004752 name: atrioventricular dissociation, congenital namespace: medical_genetics xref: UMLS:C0004331 xref: UMLS:C0009678 xref: UMLS:C1744681 is_a: HP:0004525 ! Congenital hypotrichosis [Term] id: HP:0004754 name: paroxysmal or chronic atrial fibrillation namespace: medical_genetics xref: UMLS:C0205311 xref: UMLS:C0694539 is_a: HP:0004757 ! paroxysmal atrial fibrillation [Term] id: HP:0004755 name: Supraventricular tachyarrhythmias namespace: medical_genetics xref: UMLS:C1698480 is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0004756 name: Ventricular tachycardia namespace: medical_genetics xref: UMLS:C0042514 xref: UMLS:C1963247 xref: UMLS:C2108113 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0004757 name: paroxysmal atrial fibrillation namespace: medical_genetics xref: UMLS:C0235480 is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0004758 name: Effort-induced polymorphic ventricular tachycardias namespace: medical_genetics xref: UMLS:C0015264 xref: UMLS:C0340486 xref: UMLS:C1882417 is_a: HP:0004756 ! Ventricular tachycardia [Term] id: HP:0004759 name: Nodular calcific aortic valve disease namespace: medical_genetics xref: UMLS:C0205297 xref: UMLS:C1260873 xref: UMLS:C1533591 is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0004760 name: Congenital septal defect namespace: medical_genetics synonym: "Congenital septal defects" EXACT [] xref: UMLS:C0018816 is_a: HP:0001671 ! Abnormality of the cardiac septa [Term] id: HP:0004761 name: Post-angioplasty coronary artery restenosis namespace: medical_genetics xref: UMLS:C0948480 xref: UMLS:C1299451 is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0004762 name: Hypoplasia of right ventricle namespace: medical_genetics alt_id: HP:0004951 xref: UMLS:C0225883 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1269891 is_a: HP:0001707 ! Right ventricular abnormality [Term] id: HP:0004763 name: Paroxysmal supraventricular tachycardia namespace: medical_genetics xref: UMLS:C0030590 xref: UMLS:C2108093 is_a: HP:0004755 ! Supraventricular tachyarrhythmias [Term] id: HP:0004764 name: Myxomatous mitral valve degeneration namespace: medical_genetics xref: UMLS:C0026264 xref: UMLS:C0333451 xref: UMLS:C1269004 is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0004765 name: Episodic supraventricular tachycardia namespace: medical_genetics xref: UMLS:C0039240 xref: UMLS:C1455761 xref: UMLS:C1963244 is_a: HP:0004755 ! Supraventricular tachyarrhythmias [Term] id: HP:0004766 name: Generalized hypertrichosis, back, shoulders, and face namespace: medical_genetics xref: UMLS:C0015450 xref: UMLS:C0020555 xref: UMLS:C0037004 xref: UMLS:C0205246 xref: UMLS:C1281591 is_a: HP:0004554 ! Generalized hypertrichosis [Term] id: HP:0004767 name: fine, brittle, slow-growing hair namespace: medical_genetics xref: UMLS:C0205232 xref: UMLS:C0439657 xref: UMLS:C0687757 xref: UMLS:C1832348 is_a: HP:0002213 ! Fine hair is_a: HP:0002217 ! Slow-growing hair [Term] id: HP:0004768 name: Sparse anterior scalp hair namespace: medical_genetics def: "`Sparse scalp hair` (HP:0002209) affecting the anterior part of the scalp." [HPO:probinson] xref: UMLS:C1866246 is_a: HP:0000599 ! Abnormality of the frontal hairline is_a: HP:0002209 ! Sparse scalp hair [Term] id: HP:0004770 name: sparse, slow-growing hair namespace: medical_genetics xref: UMLS:C1832348 is_a: HP:0002217 ! Slow-growing hair [Term] id: HP:0004771 name: Premature graying of body hair namespace: medical_genetics xref: UMLS:C0263498 xref: UMLS:C2371961 is_a: HP:0002216 ! Premature graying of hair [Term] id: HP:0004772 name: short, thin, sparse, pale scalp hair namespace: medical_genetics xref: UMLS:C0030232 xref: UMLS:C0205168 xref: UMLS:C0678215 xref: UMLS:C1806781 xref: UMLS:C1857042 xref: UMLS:C1971630 xref: UMLS:C2350002 is_a: HP:0002209 ! Sparse scalp hair [Term] id: HP:0004773 name: Congenital cervical hypertrichosis namespace: medical_genetics def: "Excessive, abnormal hairiness in the cervical (neck) region present at birth." [HPO:curators] xref: UMLS:C0205064 xref: UMLS:C0235864 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004774 name: dry, thin scalp hair namespace: medical_genetics xref: UMLS:C0205222 xref: UMLS:C1512080 xref: UMLS:C1863207 is_a: HP:0002556 ! Thin scalp hair [Term] id: HP:0004775 name: sparse-absent scalp hair namespace: medical_genetics xref: UMLS:C1859465 is_a: HP:0002209 ! Sparse scalp hair [Term] id: HP:0004777 name: short, sparse eyelashes namespace: medical_genetics xref: UMLS:C1806781 xref: UMLS:C1843300 xref: UMLS:C2350002 is_a: HP:0000653 ! Sparse eyelashes [Term] id: HP:0004778 name: sparse to absent pubic hair namespace: medical_genetics xref: UMLS:C1859391 is_a: HP:0002225 ! Sparse pubic hair is_a: HP:0002555 ! Absent pubic hair [Term] id: HP:0004779 name: Sparse, brittle scalp hair namespace: medical_genetics alt_id: HP:0004776 synonym: "sparse, thin, brittle scalp hair" EXACT [] xref: UMLS:C0205168 xref: UMLS:C0439657 xref: UMLS:C1857042 is_a: HP:0002209 ! Sparse scalp hair [Term] id: HP:0004780 name: Hypertrichosis limited to elbows namespace: medical_genetics def: "Excessive, abnormal hairiness limited to the elbow region." [HPO:curators] synonym: "'primary' pulmonary hypertension" EXACT [] xref: UMLS:C0013769 xref: UMLS:C0020555 xref: UMLS:C0152171 xref: UMLS:C0439801 is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004781 name: fine, slow-growing hair namespace: medical_genetics xref: UMLS:C0205232 xref: UMLS:C0687757 xref: UMLS:C1832348 is_a: HP:0002213 ! Fine hair is_a: HP:0002217 ! Slow-growing hair [Term] id: HP:0004782 name: Hypotrichosis of the scalp namespace: medical_genetics alt_id: HP:0004526 def: "Reduced or lacking hair growth of the scalp." [HPO:curators] synonym: "Hypotrichosis on scalp" EXACT [] synonym: "Scalp hypotrichosis" EXACT [] xref: UMLS:C0020678 xref: UMLS:C0036270 xref: UMLS:C1278997 xref: UMLS:C2240381 is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004783 name: multiple duodenal polyps namespace: medical_genetics xref: UMLS:C0940442 is_a: HP:0004784 ! juvenile gastrointestinal polyposis [Term] id: HP:0004784 name: juvenile gastrointestinal polyposis namespace: medical_genetics synonym: "Respiratory difficulties in infancy" EXACT [] xref: UMLS:C0013404 xref: UMLS:C0231330 xref: UMLS:C0345893 xref: UMLS:C0521362 xref: UMLS:C1559265 is_a: HP:0005266 ! Intestinal polyps [Term] id: HP:0004785 name: Malrotation of colon namespace: medical_genetics xref: UMLS:C0009368 xref: UMLS:C1281569 xref: UMLS:C1857947 is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0004786 name: jejunal diverticula namespace: medical_genetics synonym: "Chronic respiratory disease" EXACT [] xref: UMLS:C0012817 xref: UMLS:C0022378 xref: UMLS:C0264220 is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004787 name: Fulminant hepatitis namespace: medical_genetics xref: UMLS:C0302809 is_a: HP:0004448 ! Fulminant hepatic failure [Term] id: HP:0004788 name: intestinal lymphedema namespace: medical_genetics xref: UMLS:C0021853 xref: UMLS:C0024236 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0004789 name: Lactose intolerance namespace: medical_genetics xref: UMLS:C0022951 is_a: HP:0002024 ! Malabsorption [Term] id: HP:0004790 name: small intestine hypoplastic namespace: medical_genetics xref: UMLS:C0021852 xref: UMLS:C0543481 xref: UMLS:C1268998 is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0004791 name: Esophageal ulceration namespace: medical_genetics xref: UMLS:C0151970 is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0004792 name: Rectoperineal fistula namespace: medical_genetics def: "The presence of a `fistula` (MPATH:70) between the `perineum` (FMA:9579) and the `rectum` (FMA:14544)." [HPO:probinson] xref: UMLS:C0240880 is_a: HP:0004871 ! Perineal fistula is_a: HP:0100590 ! Rectal fistula [Term] id: HP:0004793 name: Gastrointestinal reflux namespace: medical_genetics xref: UMLS:C0599290 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0004794 name: Malrotation of small bowel namespace: medical_genetics xref: UMLS:C0021852 xref: UMLS:C1857947 is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0004795 name: hamartomatous stomach polyps namespace: medical_genetics xref: UMLS:C1862304 is_a: HP:0004390 ! Hamartomatous polyps is_a: HP:0006753 ! Neoplasm of the stomach [Term] id: HP:0004796 name: Gastrointestinal obstruction namespace: medical_genetics xref: UMLS:C0236124 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0004797 name: Multiple small bowel atresias namespace: medical_genetics xref: UMLS:C1857476 is_a: HP:0004749 ! Atrial fibrillation or flutter [Term] id: HP:0004798 name: Recurrent infection of the gastrointestinal tract namespace: medical_genetics def: "`Recurrent` (PATO:0000427) infection of the `gastrointestinal tract` (FMA:71132)." [HPO:probinson] synonym: "Gastrointestinal infections" RELATED [] synonym: "Recurrent gastrointestinal infections" EXACT [] xref: UMLS:C1264613 xref: UMLS:C1854495 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0004799 name: jejunoileal diverticula namespace: medical_genetics xref: UMLS:C0012817 is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004800 name: duodenal diverticula namespace: medical_genetics xref: UMLS:C0341266 is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004802 name: Episodic hemolytic anemia namespace: medical_genetics def: "A form of `hemolytic anemia` (HP:0001878) that occurs in repeated episodes." [HPO:probinson] synonym: "Episodic hemolysis" EXACT [] xref: UMLS:C0002878 xref: UMLS:C1455761 xref: UMLS:C1859495 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004804 name: Congenital hemolytic anemia namespace: medical_genetics alt_id: HP:0004811 alt_id: HP:0004824 def: "A form of `hemolytic anemia` (HP:0001878) with congenital onset." [HPO:probinson] synonym: "Congenital haemolytic anemia" EXACT [] synonym: "Neonatal hemolytic anemia" RELATED [] xref: UMLS:C0002878 xref: UMLS:C0002881 xref: UMLS:C0002882 xref: UMLS:C0002891 xref: UMLS:C0021289 xref: UMLS:C0312853 xref: UMLS:C1552240 xref: UMLS:C1552264 xref: UMLS:C1855206 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004806 name: chronic immune thrombocytopenia namespace: medical_genetics synonym: "Abnormal auditory brainstem responses" EXACT [] synonym: "Abnormal brain auditory evoked responses" EXACT [] synonym: "Abnormal brainstem auditory evoked potentials" EXACT [] xref: UMLS:C0006104 xref: UMLS:C0006121 xref: UMLS:C0015215 xref: UMLS:C0079319 xref: UMLS:C0205161 xref: UMLS:C0205191 xref: UMLS:C0272286 xref: UMLS:C0439662 xref: UMLS:C0522216 xref: UMLS:C0749393 xref: UMLS:C1269537 xref: UMLS:C1306665 xref: UMLS:C1547296 xref: UMLS:C1555457 xref: UMLS:C1970886 xref: UMLS:C2347472 is_a: HP:0001973 ! Immune thrombocytopenia [Term] id: HP:0004807 name: Thrombasthenia namespace: medical_genetics def: "An abnormality of platelet function that is present despite normal platelet counts and that can comprise deficiencies of platelet adhesion, aggregation, and secretion." [HPO:probinson] comment: Thrombasthenia literally means 'weak platelets'. xref: UMLS:C0040015 is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0004808 name: Acute myeloid leukemia namespace: medical_genetics alt_id: HP:0001914 alt_id: HP:0006724 alt_id: HP:0006728 def: "A form of leukemia characterized by overproduction of an early myeloid cell." [HPO:curators] synonym: "Acute myeloblastic leukemia" EXACT [] synonym: "Acute myelocytic leukemia" EXACT [] synonym: "Acute myelogenous leukemia" EXACT [] xref: UMLS:C0023467 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004809 name: neonatal alloimmune thrombocytopenia namespace: medical_genetics xref: UMLS:C0473780 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004810 name: Congenital hypoplastic anemia namespace: medical_genetics alt_id: HP:0005545 def: "A type of `hypoplastic anemia` (HP:0001908) 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: UMLS:C0002876 xref: UMLS:C0949116 is_a: HP:0001908 ! Hypoplastic anemia [Term] id: HP:0004812 name: Human pre-B-cell acute lymphoblastic leukemia namespace: medical_genetics xref: UMLS:C0086418 xref: UMLS:C0349636 is_a: HP:0006721 ! Acute lymphatic leukemia [Term] id: HP:0004813 name: post-transfusion thrombocytopenia namespace: medical_genetics xref: UMLS:C1868252 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004814 name: Fava bean-induced hemolytic anemia namespace: medical_genetics def: "A kind of `hemolytic anemia` (HP:0001878) 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 [] xref: UMLS:C0002878 xref: UMLS:C0232478 xref: UMLS:C0330788 xref: UMLS:C1719822 xref: UMLS:C2349999 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004817 name: Drug-sensitive hemolytic anemia namespace: medical_genetics def: "A form of `hemolytic anemia` (HP:0001878) that is triggered by ingestion of certain drugs." [HPO:probinson] xref: UMLS:C0002878 xref: UMLS:C0013227 xref: UMLS:C0332324 xref: UMLS:C1254351 xref: UMLS:C1550474 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004818 name: paroxysmal nocturnal hemoglobinuria namespace: medical_genetics xref: UMLS:C0024790 is_a: HP:0003641 ! Hemoglobinuria [Term] id: HP:0004819 name: Normocytic hypoplastic anemia namespace: medical_genetics def: "A type of `hypoplastic anemia` (HP:0001908) in which the erythrocytes have a normal cell volume (the mean corpuscular volume is within normal limits)." [HPO:probinson] xref: UMLS:C1835875 is_a: HP:0001908 ! Hypoplastic anemia [Term] id: HP:0004820 name: Acute myelomonocytic leukemia namespace: medical_genetics xref: UMLS:C0023479 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004821 name: Hypersegmentation of neutrophil nuclei namespace: medical_genetics def: "An excessive division of the lobes of the nucleus of a `neutrophil` (CL:0000775)." [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. xref: UMLS:C0007610 xref: UMLS:C0027950 xref: UMLS:C0266309 xref: UMLS:C0427516 is_a: HP:0001874 ! Abnormality of neutrophil [Term] id: HP:0004822 name: Atypical elliptocytosis namespace: medical_genetics xref: UMLS:C1857010 is_a: HP:0004445 ! Elliptocytosis [Term] id: HP:0004823 name: Anisopoikilocytosis namespace: medical_genetics def: "A type of `poikilocytosis` (HP:0004447) characterized by the presence in the blood of erythrocytes of varying sizes and abnormal shapes." [HPO:probinson] is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0004825 name: increased oxygen affinity and compensated hemolytic anemia namespace: medical_genetics xref: UMLS:C0002878 xref: UMLS:C0205432 xref: UMLS:C0311408 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004826 name: megaloblastic anemia unresponsive to vitamin b12 and folate namespace: medical_genetics xref: UMLS:C0002888 xref: UMLS:C0042845 xref: UMLS:C0178638 xref: UMLS:C0205269 xref: UMLS:C0237284 is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004827 name: poikilocytic hemolytic anemia namespace: medical_genetics xref: UMLS:C0002878 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004828 name: myelodysplasia with sideroblastosis namespace: medical_genetics xref: UMLS:C0026985 xref: UMLS:C0026986 xref: UMLS:C0679425 xref: UMLS:C1963099 is_a: HP:0002863 ! Myelodysplasia [Term] id: HP:0004829 name: idiopathic thrombocytopenic purpura namespace: medical_genetics xref: UMLS:C0043117 is_a: HP:0001936 ! Idiopathic thrombocytopenia [Term] id: HP:0004831 name: recurrent thromboembolic disease namespace: medical_genetics xref: UMLS:C0034897 xref: UMLS:C0040038 xref: UMLS:C0277556 xref: UMLS:C0333214 is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0004832 name: hypoplastic myelodysplasia namespace: medical_genetics xref: UMLS:C1851971 is_a: HP:0002863 ! Myelodysplasia [Term] id: HP:0004834 name: Congenital bleeding diathesis namespace: medical_genetics alt_id: HP:0004830 def: "A `bleeding diathesis` (HP:0001892) with onset at birth." [HPO:probinson] synonym: "Congenital hemorrhagic diathesis" EXACT [] synonym: "Neonatal bleeding tendency" EXACT [] xref: UMLS:C0009678 xref: UMLS:C0019087 xref: UMLS:C0021289 xref: UMLS:C1458140 xref: UMLS:C1552240 xref: UMLS:C1552264 xref: UMLS:C1744681 xref: UMLS:C1856452 is_a: HP:0001892 ! Bleeding diathesis [Term] id: HP:0004835 name: Microspherocytosis namespace: medical_genetics 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 namespace: medical_genetics xref: UMLS:C0023487 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004838 name: severe thrombocytopenia namespace: medical_genetics xref: UMLS:C0040034 xref: UMLS:C0205082 xref: UMLS:C1519275 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004839 name: Pyropoikilocytosis namespace: medical_genetics 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 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0004840 name: hypochromic, microcytic anemia namespace: medical_genetics xref: UMLS:C0085576 xref: UMLS:C0333912 is_a: HP:0001935 ! Microcytic anemia [Term] id: HP:0004841 name: Factor XII deficiency namespace: medical_genetics alt_id: HP:0005551 synonym: "Hageman factor deficiency" EXACT [] xref: UMLS:C0015526 is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0004842 name: mild hypochromic microcytic anemia namespace: medical_genetics xref: UMLS:C1845062 is_a: HP:0001935 ! Microcytic anemia [Term] id: HP:0004843 name: Familial acute myelogenous leukemia namespace: medical_genetics xref: UMLS:C0015576 xref: UMLS:C0023467 xref: UMLS:C0241888 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004844 name: Coombs-positive hemolytic anemia namespace: medical_genetics alt_id: HP:0003539 def: "A type of `hemolytic anemia` (HP:0001878) 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:C0520736 xref: UMLS:C1858979 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004845 name: Acute monocytic leukemia namespace: medical_genetics alt_id: HP:0004833 synonym: "Acute monoblastic leukemia" EXACT [] xref: UMLS:C0023465 xref: UMLS:C0457334 xref: UMLS:C1318544 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004846 name: severe protracted bleeding after surgery namespace: medical_genetics synonym: "Excessive bleeding during surgery" EXACT [] xref: UMLS:C0019080 xref: UMLS:C0038894 xref: UMLS:C0038895 xref: UMLS:C0205082 xref: UMLS:C0442802 xref: UMLS:C0491912 xref: UMLS:C0543467 xref: UMLS:C1519275 is_a: HP:0001934 ! Persistent bleeding after trauma [Term] id: HP:0004847 name: extramedullary erythropoiesis namespace: medical_genetics xref: UMLS:C1292120 is_a: HP:0001978 ! Extramedullary hematopoiesis [Term] id: HP:0004848 name: Ph-positive acute lymphoblastic leukemia namespace: medical_genetics xref: UMLS:C1835422 is_a: HP:0006721 ! Acute lymphatic leukemia [Term] id: HP:0004850 name: recurrent deep vein thrombosis namespace: medical_genetics synonym: "Recurrent venous thrombosis" EXACT [] xref: UMLS:C0034897 xref: UMLS:C0042487 xref: UMLS:C0149871 xref: UMLS:C0340708 xref: UMLS:C1867639 is_a: HP:0002625 ! Deep venous thrombosis [Term] id: HP:0004851 name: folate-responsive megaloblastic anemia namespace: medical_genetics xref: UMLS:C0002888 xref: UMLS:C0178638 xref: UMLS:C0205342 xref: UMLS:C1263989 is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004852 name: Low leukocyte alkaline phosphatase namespace: medical_genetics def: "A decreased alkaline phosphatase activity measured within leukocytes." [HPO:probinson] xref: UMLS:C1850780 is_a: HP:0001881 ! Abnormality of leukocytes is_a: HP:0003282 ! Low alkaline phosphatase [Term] id: HP:0004853 name: Lethal congenital nonspherocytic, nonimmune hemolytic anemia namespace: medical_genetics xref: UMLS:C0002878 xref: UMLS:C0009678 xref: UMLS:C1744681 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004854 name: intermittent thrombocytopenia namespace: medical_genetics xref: UMLS:C1839167 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004855 name: protein S deficiency namespace: medical_genetics def: "An `abnormality of coagulation` (HP:0001928) related to a `decreased concentration` (PATO:0001163) of `vitamin K-dependent protein S` (PR:000013269)." [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. xref: UMLS:C0242666 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0004856 name: normochromic microcytic anemia namespace: medical_genetics xref: UMLS:C0085576 xref: UMLS:C0235983 xref: UMLS:C0302870 xref: UMLS:C1317571 is_a: HP:0001935 ! Microcytic anemia [Term] id: HP:0004857 name: hyperchromic macrocytic anemia namespace: medical_genetics xref: UMLS:C0302845 xref: UMLS:C0701815 is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0004858 name: megaloblastic anemia, chronic, relapsing namespace: medical_genetics xref: UMLS:C0002888 xref: UMLS:C0035020 xref: UMLS:C0205191 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004859 name: amegakaryocytic thrombocytopenia namespace: medical_genetics xref: UMLS:C0398639 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004860 name: megaloblastic anemia responsive only to thiamine namespace: medical_genetics xref: UMLS:C0002888 xref: UMLS:C0039840 xref: UMLS:C0205342 is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004861 name: refractory macrocytic anemia namespace: medical_genetics xref: UMLS:C0002886 xref: UMLS:C0002893 xref: UMLS:C0205269 xref: UMLS:C0302845 is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0004863 name: compensated hemolytic anemia namespace: medical_genetics xref: UMLS:C0002878 xref: UMLS:C0205432 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004864 name: refractory sideroblastic anemia namespace: medical_genetics xref: UMLS:C0002896 is_a: HP:0001924 ! Sideroblastic anemia [Term] id: HP:0004866 name: platelets show impaired aggregation in response to adp namespace: medical_genetics xref: UMLS:C0005821 xref: UMLS:C0032181 xref: UMLS:C0221099 xref: UMLS:C0332621 xref: UMLS:C0439168 xref: UMLS:C0684336 xref: UMLS:C0871261 xref: UMLS:C1547282 xref: UMLS:C1704632 xref: UMLS:C1706817 xref: UMLS:C1963076 is_a: HP:0003540 ! Abnormal platelet aggregation [Term] id: HP:0004867 name: Williams factor deficiency namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0162429 xref: UMLS:C1521761 xref: UMLS:C1623416 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0004868 name: severe hemolytic anemia namespace: medical_genetics xref: UMLS:C0002878 xref: UMLS:C0205082 xref: UMLS:C0238644 xref: UMLS:C0312853 xref: UMLS:C1519275 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004869 name: thrombocytopenia, congenital namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0040034 xref: UMLS:C1744681 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004870 name: Chronic hemolytic anemia namespace: medical_genetics alt_id: HP:0004815 def: "An chronic form of `hemolytic anemia` (HP:0001878)." [HPO:probinson] synonym: "hemolytic anemia, chronic" EXACT [] xref: UMLS:C0002878 xref: UMLS:C0205191 xref: UMLS:C1387532 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004871 name: Perineal fistula namespace: medical_genetics def: "The presence of a `fistula` (MPATH:70) between the `bowel` (FMA:7199) and the `perineum` (FMA:9579)." [HPO:probinson] comment: The perineum is the diamond-shaped region of the body between the pubic arch and the anus. xref: UMLS:C0561921 is_a: HP:0100589 ! Urogenital fistula [Term] id: HP:0004872 name: Recurrent or incisional hernia namespace: medical_genetics xref: UMLS:C0034897 xref: UMLS:C0267716 is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0004874 name: Hypotrichosis, infantile namespace: medical_genetics def: "Lack of hair growth with onset in infancy." [HPO:curators] xref: UMLS:C0020678 xref: UMLS:C0231330 is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004875 name: Neonatal inspiratory stridor namespace: medical_genetics xref: UMLS:C0021289 xref: UMLS:C0677600 xref: UMLS:C1552240 xref: UMLS:C1552264 is_a: HP:0002643 ! Neonatal respiratory distress is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0004876 name: spontaneous neonatal pneumothorax namespace: medical_genetics synonym: "Neonatal pneumothorax" EXACT [] xref: UMLS:C0021289 xref: UMLS:C0149781 xref: UMLS:C0205359 xref: UMLS:C1552240 xref: UMLS:C1552264 xref: UMLS:C1857021 is_a: HP:0002108 ! Spontaneous pneumothorax [Term] id: HP:0004877 name: respiratory failure in infancy namespace: medical_genetics xref: UMLS:C0231330 xref: UMLS:C1145670 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004878 name: Respiratory failure due to intercostal muscle and diaphragm involvement namespace: medical_genetics xref: UMLS:C0021724 xref: UMLS:C1145670 xref: UMLS:C1279045 xref: UMLS:C1858122 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004879 name: intermittent hyperventilation namespace: medical_genetics xref: UMLS:C1828017 is_a: HP:0002883 ! Hyperventilation [Term] id: HP:0004880 name: Respiratory infections in early life namespace: medical_genetics xref: UMLS:C0035243 xref: UMLS:C0376558 xref: UMLS:C1279919 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0004881 name: hypoventilation, episodic namespace: medical_genetics xref: UMLS:C0398353 xref: UMLS:C1455761 is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0004882 name: respiratory distress due to muscle weakness, often fatal namespace: medical_genetics xref: UMLS:C0151786 xref: UMLS:C0332183 xref: UMLS:C0441804 xref: UMLS:C0476273 xref: UMLS:C1302234 is_a: HP:0002747 ! Respiratory insufficiency due to muscle weakness [Term] id: HP:0004884 name: Recurrent chest infections namespace: medical_genetics xref: UMLS:C0585953 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0004885 name: respiratory distress, episodic namespace: medical_genetics xref: UMLS:C0476273 xref: UMLS:C1455761 is_a: HP:0002098 ! Respiratory distress [Term] id: HP:0004886 name: Congenital laryngeal stridor namespace: medical_genetics xref: UMLS:C0265763 is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0004887 name: Respiratory failure requiring assisted ventilation namespace: medical_genetics alt_id: HP:0004883 synonym: "Respiratory failure often resulting in ventilator dependency" EXACT [] xref: UMLS:C0011546 xref: UMLS:C0087153 xref: UMLS:C0332183 xref: UMLS:C1145670 xref: UMLS:C1274040 xref: UMLS:C1546471 xref: UMLS:C1546937 xref: UMLS:C1547127 xref: UMLS:C1611144 xref: UMLS:C1832091 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004888 name: respiratory failure due to muscle weakness may occur in late stages namespace: medical_genetics xref: UMLS:C0151786 xref: UMLS:C0205087 xref: UMLS:C1145670 xref: UMLS:C1306673 xref: UMLS:C1709305 is_a: HP:0002747 ! Respiratory insufficiency due to muscle weakness [Term] id: HP:0004889 name: Intermittent episodes of respiratory insufficiency due to muscle weakness namespace: medical_genetics xref: UMLS:C0035229 xref: UMLS:C0151786 xref: UMLS:C0205267 xref: UMLS:C0332189 is_a: HP:0001324 ! Muscle weakness is_a: HP:0002747 ! Respiratory insufficiency due to muscle weakness [Term] id: HP:0004890 name: Elevated pulmonary artery pressure namespace: medical_genetics alt_id: HP:0004958 def: "An abnormally elevated blood pressure in the circulation of the `pulmonary artery` (FMA:66326)." [HPO:probinson] synonym: "increased pulmonary artery pressure" EXACT [] xref: UMLS:C0205217 xref: UMLS:C0205250 xref: UMLS:C0428642 xref: UMLS:C0442805 is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004891 name: Recurrent infections due to aspiration namespace: medical_genetics xref: UMLS:C0004048 xref: UMLS:C0220787 xref: UMLS:C0239998 xref: UMLS:C0349707 xref: UMLS:C0700198 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0004892 name: alveolar hypoventilation namespace: medical_genetics xref: UMLS:C0398353 is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0004893 name: progressive respiratory failure namespace: medical_genetics synonym: "Progressive breathing difficulty" EXACT [] xref: UMLS:C0013404 xref: UMLS:C0205329 xref: UMLS:C1145670 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004894 name: Laryngotracheal stenosis namespace: medical_genetics xref: UMLS:C1857270 is_a: HP:0001602 ! Laryngeal stenosis is_a: HP:0002777 ! Tracheal stenosis [Term] id: HP:0004895 name: mild metabolic acidosis namespace: medical_genetics xref: UMLS:C1860088 is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0004897 name: Stress/infection-induced lactic acidosis namespace: medical_genetics def: "A form of `lactic acidemia` (HP:0003128) that occurs in relation to stress or infection." [HPO:probinson] xref: UMLS:C0001125 xref: UMLS:C0021311 xref: UMLS:C0038435 xref: UMLS:C1709305 xref: UMLS:C2364133 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004898 name: Persistent lactic acidosis namespace: medical_genetics def: "A `continuous` (PATO:0000689) form of `lactic acidemia` (HP:0003128)." [HPO:probinson] xref: UMLS:C0001125 xref: UMLS:C0205322 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004899 name: Chronic adult lactic acidosis namespace: medical_genetics def: "A chronic form of `lactic acidemia` (HP:0003128) with `adult onset` (HP:0003581)." [HPO:probinson] xref: UMLS:C0001675 xref: UMLS:C1706450 xref: UMLS:C1839437 is_a: HP:0004925 ! Chronic lactic acidosis [Term] id: HP:0004900 name: Severe lactic acidosis namespace: medical_genetics def: "A `severe` (PATO:0000396) form of `lactic acidemia` (HP:0003128)." [HPO:probinson] xref: UMLS:C0001125 xref: UMLS:C0205082 xref: UMLS:C1519275 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004901 name: Exercise-induced lactic acidemia namespace: medical_genetics def: "A form of `lactic acidemia` (HP:0003128) that occurs following exercise or exertion." [HPO:probinson, pmid:15308499] xref: UMLS:C0015259 xref: UMLS:C0347959 xref: UMLS:C1522704 xref: UMLS:C1855560 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004902 name: Congenital lactic acidosis namespace: medical_genetics def: "A form of `lactic acidemia` (HP:0003128) with `congenital onset` (HP:0003577)." [HPO:probinson] xref: UMLS:C0001125 xref: UMLS:C0009678 xref: UMLS:C1744681 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004903 name: Fever, episodic, severe namespace: medical_genetics def: "Periodic (episodic or recurrent) bouts of severe fever that do not have an infectious cause." [HPO:curators] xref: UMLS:C0015967 xref: UMLS:C0205082 xref: UMLS:C0424755 xref: UMLS:C1455761 xref: UMLS:C1519275 is_a: HP:0001954 ! Fever, episodic [Term] id: HP:0004904 name: Insulin-dependent maturity-onset diabetes of the young namespace: medical_genetics synonym: "Maturity-onset diabetes of the young" EXACT [] xref: UMLS:C0011854 xref: UMLS:C0011860 xref: UMLS:C0021641 xref: UMLS:C0332162 xref: UMLS:C0332239 xref: UMLS:C0449989 xref: UMLS:C0700597 xref: UMLS:C0851827 xref: UMLS:C1145751 xref: UMLS:C1533581 xref: UMLS:C1701901 is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0004905 name: Vitamin A deficiency namespace: medical_genetics xref: UMLS:C0042842 is_a: HP:0008372 ! Abnormality of vitamin A metabolism [Term] id: HP:0004906 name: hypernatremic dehydration namespace: medical_genetics xref: UMLS:C1850544 is_a: HP:0001986 ! Hypertonic dehydration [Term] id: HP:0004907 name: metabolic acidosis, severe namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0220981 xref: UMLS:C1519275 is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0004908 name: Mild diabetes mellitus namespace: medical_genetics xref: UMLS:C0011849 xref: UMLS:C0547040 is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0004909 name: hypokalemic hypochloremic metabolic alkalosis namespace: medical_genetics xref: UMLS:C0740896 is_a: HP:0001960 ! Hypokalemic metabolic alkalosis [Term] id: HP:0004910 name: bicarbonate-wasting renal tubular acidosis namespace: medical_genetics synonym: "Renal bicarbonate wasting" EXACT [] xref: UMLS:C0268435 xref: UMLS:C1858626 is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0004911 name: metabolic acidosis, episodic namespace: medical_genetics xref: UMLS:C0220981 xref: UMLS:C1455761 is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0004912 name: hypophosphatemic rickets namespace: medical_genetics xref: UMLS:C1704375 is_a: HP:0002148 ! Hypophosphatemia is_a: HP:0002748 ! Rickets [Term] id: HP:0004913 name: Intermittent lactic acidemia namespace: medical_genetics def: "An `intermittent (discontinuous)` (PATO:0000690) form of `lactic acidemia` (HP:0003128)." [HPO:probinson] xref: UMLS:C1844917 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004914 name: recurrent infantile hypoglycemia namespace: medical_genetics xref: UMLS:C0034897 xref: UMLS:C0158986 is_a: HP:0001998 ! Neonatal hypoglycemia [Term] id: HP:0004915 name: Impairment of galactose metabolism namespace: medical_genetics def: "An impairment of `galactose metabolism` (GO:0006012)." [HPO:probinson] xref: UMLS:C0221099 xref: UMLS:C0684336 xref: UMLS:C1156458 is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis [Term] id: HP:0004916 name: generalized distal tubular acidosis namespace: medical_genetics xref: UMLS:C0001122 xref: UMLS:C0151747 xref: UMLS:C0205108 xref: UMLS:C0205246 xref: UMLS:C0332208 is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0004917 name: hypoglycemia, episodic, in infants namespace: medical_genetics xref: UMLS:C0020615 xref: UMLS:C0021270 xref: UMLS:C1455761 is_a: HP:0001988 ! Recurrent hypoglycemia [Term] id: HP:0004918 name: hyperchloremic metabolic acidosis namespace: medical_genetics xref: UMLS:C1969073 is_a: HP:0001995 ! Hyperchloremic acidosis [Term] id: HP:0004919 name: Galactose intolerance namespace: medical_genetics xref: UMLS:C0016952 is_a: HP:0004915 ! Impairment of galactose metabolism [Term] id: HP:0004920 name: Phenylpyruvic acidemia namespace: medical_genetics xref: UMLS:C1849926 is_a: HP:0001941 ! Acidosis [Term] id: HP:0004921 name: Abnormality of magnesium homeostasis namespace: medical_genetics alt_id: HP:0008274 def: "An abnormality of `magnesium ion homeostasis` (GO:0010960)." [HPO:probinson] synonym: "Abnormal magnesium metabolism" RELATED [] xref: UMLS:C0024467 xref: UMLS:C0025519 xref: UMLS:C0025520 xref: UMLS:C0205161 xref: UMLS:C0205251 xref: UMLS:C0205307 xref: UMLS:C0439166 xref: UMLS:C1299352 xref: UMLS:C1550472 xref: UMLS:C2347086 xref: UMLS:C2347472 xref: UMLS:C2348270 is_a: HP:0010927 ! Abnormality of divalent inorganic cation homeostasis [Term] id: HP:0004922 name: Atypical hyperphenylalaninemia namespace: medical_genetics xref: UMLS:C0205182 xref: UMLS:C0741302 xref: UMLS:C0751435 is_a: HP:0010893 ! Abnormality of phenylalanine metabolism [Term] id: HP:0004923 name: Hyperphenylalaninemia namespace: medical_genetics def: "An increased concentration of `L-phenylalanine` (CHEBI:17295) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C0751435 is_a: HP:0010893 ! Abnormality of phenylalanine metabolism [Term] id: HP:0004924 name: Abnormal oral glucose tolerance namespace: medical_genetics def: "A type of `Abnormal glucose tolerance` (HP:0001952) observed following administration of an oral bolus of glucose." [HPO:probinson] synonym: "Abnormal glucose oral tolerance test" EXACT [] xref: UMLS:C0029161 xref: UMLS:C0205161 xref: UMLS:C0235401 xref: UMLS:C0442027 xref: UMLS:C1847425 xref: UMLS:C2347472 is_a: HP:0001952 ! Abnormal glucose tolerance [Term] id: HP:0004925 name: Chronic lactic acidosis namespace: medical_genetics def: "A `chronic` (PATO:0001863) form of `lactic acidemia` (HP:0003128)." [HPO:probinson] xref: UMLS:C0001125 xref: UMLS:C0205191 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0004926 name: Orthostatic hypotension due to autonomic dysfunction namespace: medical_genetics xref: UMLS:C0020651 xref: UMLS:C0037019 xref: UMLS:C0741307 is_a: HP:0001278 ! Orthostatic hypotension [Term] id: HP:0004927 name: pulmonary artery dilatation namespace: medical_genetics xref: UMLS:C0428851 xref: UMLS:C0685732 is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004928 name: Peripheral arterial stenosis namespace: medical_genetics xref: UMLS:C0038449 xref: UMLS:C0205100 is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0004929 name: Coronary atherosclerosis namespace: medical_genetics 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 xref: UMLS:C0018787 is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0004930 name: Abnormality of the pulmonary vasculature namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0489877 xref: UMLS:C1704258 is_a: HP:0002597 ! Abnormality of the vasculature created_by: peter creation_date: 2008-03-26T04:07:00Z [Term] id: HP:0004931 name: small cerebral arteries show arteriosclerotic changes namespace: medical_genetics xref: UMLS:C0007770 xref: UMLS:C0333477 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C0700321 xref: UMLS:C1547282 xref: UMLS:C1705241 is_a: HP:0002634 ! Arteriosclerosis [Term] id: HP:0004932 name: Orthostatic hypotension, severe, recurrent namespace: medical_genetics xref: UMLS:C0020651 xref: UMLS:C0034897 xref: UMLS:C0037019 xref: UMLS:C0205082 xref: UMLS:C1519275 is_a: HP:0001278 ! Orthostatic hypotension [Term] id: HP:0004933 name: ascending aortic dissection namespace: medical_genetics xref: UMLS:C0205385 xref: UMLS:C0340643 xref: UMLS:C1962987 xref: UMLS:C2046121 is_a: HP:0002647 ! Aortic dissection [Term] id: HP:0004934 name: Vascular calcifications namespace: medical_genetics xref: UMLS:C0342649 is_a: HP:0002597 ! Abnormality of the vasculature is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0004935 name: Pulmonary artery atresia namespace: medical_genetics synonym: "Pulmonary atresia" EXACT [] xref: UMLS:C0242855 xref: UMLS:C0265908 is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004936 name: Venous thrombosis namespace: medical_genetics xref: UMLS:C0042487 xref: UMLS:C0517555 is_a: HP:0004418 ! Thrombophlebitis [Term] id: HP:0004937 name: pulmonary artery aneurysm namespace: medical_genetics xref: UMLS:C0155676 is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004938 name: Tortuous cerebral arteries namespace: medical_genetics xref: UMLS:C1836791 is_a: HP:0005116 ! Arterial tortuosity [Term] id: HP:0004939 name: hypertrophy of the pulmonary artery wall namespace: medical_genetics xref: UMLS:C0020564 xref: UMLS:C0736873 is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004940 name: Arterial calcification, generalized namespace: medical_genetics xref: UMLS:C0205246 xref: UMLS:C1168153 is_a: HP:0003207 ! Arterial calcification [Term] id: HP:0004941 name: Extrahepatic portal hypertension namespace: medical_genetics def: "`Increased pressure` (PATO:0001576) in the `pre-hepatic portal vein` (FMA:71904)." [HPO:probinson] comment: Hypertension in the portal venous tree proper. xref: UMLS:C1517058 xref: UMLS:C2062356 is_a: HP:0001409 ! Portal hypertension [Term] id: HP:0004942 name: Aortic aneurysms namespace: medical_genetics xref: UMLS:C0003486 is_a: HP:0001724 ! Aortic dilatation is_a: HP:0002617 ! Aneurysm [Term] id: HP:0004943 name: Accelerated atherosclerosis namespace: medical_genetics xref: UMLS:C1849618 is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0004944 name: Cerebral aneurysm namespace: medical_genetics alt_id: HP:0002618 def: "The presence of a localized dilatation or ballooning of a cerebral artery." [HPO:curators] synonym: "Cerebral artery aneurysm" EXACT [] synonym: "Intracranial aneurysm" EXACT [] xref: UMLS:C0007766 xref: UMLS:C0917996 xref: UMLS:C1290398 is_a: HP:0002617 ! Aneurysm is_a: HP:0009145 ! Abnormalities of the cerebral arteries [Term] id: HP:0004945 name: Spontaneous extracranial internal carotid artery dissection namespace: medical_genetics xref: UMLS:C0205359 xref: UMLS:C0580586 xref: UMLS:C0751815 is_a: HP:0005294 ! Arterial dissection is_a: HP:0005344 ! Abnormality of the carotid arteries [Term] id: HP:0004947 name: Arteriovenous fistulas namespace: medical_genetics alt_id: HP:0004946 synonym: "Arteriovenous fistula" EXACT [] xref: UMLS:C0003855 is_a: HP:0100026 ! Arteriovenous malformations [Term] id: HP:0004948 name: Vascular tortuosity namespace: medical_genetics xref: UMLS:C0333076 xref: UMLS:C1558950 xref: UMLS:C1801960 is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0004950 name: Peripheral arterial disease namespace: medical_genetics alt_id: HP:0004973 synonym: "Peripheral vascular-disease" EXACT [] xref: UMLS:C0085096 xref: UMLS:C1704436 is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0004952 name: Pulmonary arteriovenous fistulas namespace: medical_genetics xref: UMLS:C0155675 is_a: HP:0004947 ! Arteriovenous fistulas [Term] id: HP:0004953 name: Abdominal aortic aneurysm namespace: medical_genetics xref: UMLS:C0162871 is_a: HP:0004942 ! Aortic aneurysms is_a: HP:0005112 ! Dilatation of the abdominal aorta [Term] id: HP:0004954 name: Descending aortic aneurysm namespace: medical_genetics xref: UMLS:C0003486 xref: UMLS:C0205386 xref: UMLS:C0340629 xref: UMLS:C2072946 is_a: HP:0004942 ! Aortic aneurysms is_a: HP:0004959 ! Dilatation of the descending thoracic aorta [Term] id: HP:0004955 name: Arterial tortuosity, generalized namespace: medical_genetics xref: UMLS:C0205246 xref: UMLS:C1859726 is_a: HP:0005116 ! Arterial tortuosity [Term] id: HP:0004956 name: Systolic hypertension, mild namespace: medical_genetics xref: UMLS:C0221155 xref: UMLS:C0547040 is_a: HP:0004421 ! Elevated systolic blood pressure [Term] id: HP:0004957 name: peripheral pulmonary stenosis namespace: medical_genetics synonym: "Peripheral pulmonic stenosis" EXACT [] xref: UMLS:C1848405 xref: UMLS:C1855624 is_a: HP:0004415 ! Pulmonary artery stenosis [Term] id: HP:0004959 name: Dilatation of the descending thoracic aorta namespace: medical_genetics xref: UMLS:C0012356 xref: UMLS:C0012359 xref: UMLS:C1278935 xref: UMLS:C1522460 is_a: HP:0001724 ! Aortic dilatation created_by: peter creation_date: 2008-03-25T06:32:00Z [Term] id: HP:0004960 name: absent pulmonary artery namespace: medical_genetics xref: UMLS:C0265905 is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004961 name: pulmonary artery sling namespace: medical_genetics xref: UMLS:C1856123 is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004962 name: Thoracic aorta calcification namespace: medical_genetics xref: UMLS:C1969292 is_a: HP:0001679 ! Abnormality of the aorta is_a: HP:0004934 ! Vascular calcifications [Term] id: HP:0004963 name: Calcifications of the aorta namespace: medical_genetics xref: UMLS:C0003483 xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C1278934 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0001679 ! Abnormality of the aorta is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0004964 name: Arteries show medial hypertrophy namespace: medical_genetics xref: UMLS:C0003842 xref: UMLS:C0020564 xref: UMLS:C0205098 xref: UMLS:C1547282 is_a: HP:0002620 ! Systemic artery abnormality [Term] id: HP:0004966 name: Medial calcification of medium-sized and major arteries namespace: medical_genetics xref: UMLS:C0009458 xref: UMLS:C0333491 xref: UMLS:C0439536 xref: UMLS:C0456389 xref: UMLS:C0682605 is_a: HP:0003207 ! Arterial calcification [Term] id: HP:0004967 name: Systemic artery calcification namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C0205373 xref: UMLS:C0933549 xref: UMLS:C1533591 xref: UMLS:C1654638 xref: UMLS:C1879982 is_a: HP:0003207 ! Arterial calcification [Term] id: HP:0004968 name: recurrent cerebral and cerebellar hemorrhage namespace: medical_genetics xref: UMLS:C0034897 xref: UMLS:C0149854 is_a: HP:0001342 ! Cerebral hemorrhage [Term] id: HP:0004969 name: peripheral pulmonary artery stenosis namespace: medical_genetics xref: UMLS:C0345030 is_a: HP:0004415 ! Pulmonary artery stenosis [Term] id: HP:0004970 name: Ascending aortic dilation namespace: medical_genetics xref: UMLS:C0205385 xref: UMLS:C0265004 xref: UMLS:C1962987 is_a: HP:0005111 ! Dilatation of the ascending aorta [Term] id: HP:0004971 name: pulmonary artery hypoplasia namespace: medical_genetics xref: UMLS:C0265910 is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004972 name: Elevated mean arterial pressure namespace: medical_genetics xref: UMLS:C1840376 is_a: HP:0000822 ! Hypertension [Term] id: HP:0004974 name: coarctation of abdominal aorta namespace: medical_genetics xref: UMLS:C0003484 xref: UMLS:C0003492 xref: UMLS:C0332886 xref: UMLS:C1269882 is_a: HP:0001680 ! Coarctation of aorta [Term] id: HP:0004975 name: 'Erlenmeyer flask' deformity of the femurs namespace: medical_genetics synonym: "Erlenmeyer flask femora" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0015811 xref: UMLS:C0221430 xref: UMLS:C0302142 xref: UMLS:C0872171 xref: UMLS:C1279112 xref: UMLS:C1855895 xref: UMLS:C2117111 is_a: HP:0002823 ! Abnormality of the femur [Term] id: HP:0004976 name: Dislocations of the knees namespace: medical_genetics alt_id: HP:0006469 synonym: "Knee dislocations" EXACT [] xref: UMLS:C0012691 xref: UMLS:C0022742 xref: UMLS:C0159970 is_a: HP:0001373 ! Joint dislocation is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0004977 name: bilateral absence of radius namespace: medical_genetics xref: UMLS:C0034627 xref: UMLS:C0238767 xref: UMLS:C1279083 xref: UMLS:C1306504 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0003974 ! Absent ossification/absence of radius [Term] id: HP:0004978 name: Splayed epiphyses and metaphyses namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0222671 is_a: HP:0200002 ! Splayed metaphyses is_a: HP:0200003 ! Splayed epiphyses [Term] id: HP:0004979 name: Sclerotic, widened metaphyses namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0334135 xref: UMLS:C1846158 is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0004980 name: Rarefaction of the metaphyses namespace: medical_genetics xref: UMLS:C0222671 xref: UMLS:C0332550 is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0004981 name: prominent ulnar styloid process namespace: medical_genetics xref: UMLS:C1848110 is_a: HP:0004035 ! Abnormality of the styloid process [Term] id: HP:0004982 name: Flat, irregular epiphyses namespace: medical_genetics alt_id: HP:0005076 synonym: "flattened, irregular epiphyses" EXACT [] xref: UMLS:C0016203 xref: UMLS:C0205324 xref: UMLS:C0457933 xref: UMLS:C1846449 is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0004983 name: short, broad tubular bones namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C1806781 xref: UMLS:C1834058 xref: UMLS:C1865033 xref: UMLS:C2350002 is_a: HP:0003026 ! Short long bones [Term] id: HP:0004985 name: knee and ankle contractures namespace: medical_genetics xref: UMLS:C0022742 xref: UMLS:C0022745 xref: UMLS:C1283838 xref: UMLS:C1837407 xref: UMLS:C1963703 is_a: HP:0002978 ! Knee contractures is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0004986 name: Rudimentary to absent fibulae namespace: medical_genetics def: "Absent or nearly absent fibula." [HPO:curators] synonym: "Small to absent fibula" EXACT [] xref: UMLS:C0700321 xref: UMLS:C1845808 is_a: HP:0002990 ! Fibular aplasia [Term] id: HP:0004987 name: Mesomelia of the lower limbs namespace: medical_genetics def: "Shortening of the middle parts of the leg in relation to the upper and terminal segments." [HPO:sdoelken] xref: UMLS:C0023216 xref: UMLS:C0549306 is_a: HP:0003027 ! Mesomelia [Term] id: HP:0004988 name: shortened long tubular bones namespace: medical_genetics xref: UMLS:C1856470 is_a: HP:0003026 ! Short long bones [Term] id: HP:0004989 name: absent or hypoplastic radii namespace: medical_genetics xref: UMLS:C0332197 xref: UMLS:C1849352 is_a: HP:0002984 ! Hypoplasia of the radius [Term] id: HP:0004990 name: Epiphyseal streaking namespace: medical_genetics xref: UMLS:C1858039 is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0004991 name: rhizomelic arm shortening namespace: medical_genetics xref: UMLS:C1969532 is_a: HP:0002968 ! Rhizomelic shortening [Term] id: HP:0004992 name: Dislocations of the wrists namespace: medical_genetics xref: UMLS:C0012691 xref: UMLS:C0043262 is_a: HP:0001373 ! Joint dislocation [Term] id: HP:0004993 name: slender long bones with narrow diaphyses namespace: medical_genetics xref: UMLS:C1833144 xref: UMLS:C1850112 is_a: HP:0003096 ! Slender long bones [Term] id: HP:0004994 name: long, flared metaphyses namespace: medical_genetics xref: UMLS:C0205166 xref: UMLS:C0222671 xref: UMLS:C1517205 xref: UMLS:C1706317 is_a: HP:0000945 ! Flared irregular metaphyses [Term] id: HP:0004996 name: Radial bowing, severe namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1865846 is_a: HP:0002986 ! Radial bowing [Term] id: HP:0004997 name: Multicentric ossification of proximal humeral epiphyses namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0439743 xref: UMLS:C0588209 is_a: HP:0003897 ! Irregular ossification of the humeral epiphyses is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0004998 name: occasional femoral bowing namespace: medical_genetics xref: UMLS:C1833777 is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0004999 name: genu valgum or genu varum namespace: medical_genetics xref: UMLS:C0544755 xref: UMLS:C0576093 is_a: HP:0002857 ! Genu valgum is_a: HP:0002970 ! Genu varum [Term] id: HP:0005000 name: short tubular bones with mild metaphyseal flare namespace: medical_genetics xref: UMLS:C0222671 xref: UMLS:C0547040 xref: UMLS:C1517205 xref: UMLS:C1865033 is_a: HP:0003026 ! Short long bones [Term] id: HP:0005001 name: Recurrent patellar dislocation namespace: medical_genetics def: "Patellar dislocation occuring repeated times." [HPO:curators] synonym: "Recurrent dislocation of patellas" EXACT [] xref: UMLS:C0030647 xref: UMLS:C0158100 xref: UMLS:C0849880 xref: UMLS:C1857621 is_a: HP:0002999 ! Dislocation of patella [Term] id: HP:0005003 name: Aplasia/Hypoplasia of the capital femoral epiphysis namespace: medical_genetics def: "Absence or underdevelopment of the `proximal epiphysis of the femur` (FMA:32841)." [HPO:probinson] xref: UMLS:C0332197 xref: UMLS:C1839254 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010577 ! Absent epiphyses [Term] id: HP:0005004 name: Flattened proximal radial epiphyses namespace: medical_genetics def: "An abnormally flat form of the proximal epiphysis of the radius." [HPO:curators] xref: UMLS:C1849065 is_a: HP:0004002 ! Flattened radial epiphyses is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0005005 name: femoral bowing present at birth, straightening with time namespace: medical_genetics xref: UMLS:C0005615 xref: UMLS:C0040223 xref: UMLS:C0150312 xref: UMLS:C0449450 xref: UMLS:C1550722 xref: UMLS:C1837080 is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005007 name: small, flat irregularly ossified epiphyses namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C0231556 xref: UMLS:C1837677 is_a: HP:0003039 ! Small, irregular epiphyses [Term] id: HP:0005008 name: Large joint dislocations namespace: medical_genetics xref: UMLS:C0012691 xref: UMLS:C0549177 is_a: HP:0001373 ! Joint dislocation [Term] id: HP:0005009 name: short, dumbbell-shaped humeri namespace: medical_genetics xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1832117 is_a: HP:0000947 ! Dumbbell-shaped long bones [Term] id: HP:0005010 name: osteomyelitis leading to amputation due to slow healing fractures namespace: medical_genetics xref: UMLS:C0002688 xref: UMLS:C0029443 xref: UMLS:C0152231 xref: UMLS:C0162542 xref: UMLS:C0332152 xref: UMLS:C0439834 xref: UMLS:C1522538 xref: UMLS:C1546539 is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0005011 name: Mesomelia of the upper limbs namespace: medical_genetics 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: "mesomelic arm shortening" EXACT [] synonym: "Upper limb brachymesomelia" EXACT [] xref: UMLS:C0549306 xref: UMLS:C1140618 xref: UMLS:C1862087 xref: UMLS:C1969395 is_a: HP:0003027 ! Mesomelia [Term] id: HP:0005012 name: absence of radius and ulna namespace: medical_genetics xref: UMLS:C0034627 xref: UMLS:C0041600 xref: UMLS:C1279083 xref: UMLS:C1279087 xref: UMLS:C1306504 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0003974 ! Absent ossification/absence of radius [Term] id: HP:0005013 name: Dysplastic distal radial epiphyses namespace: medical_genetics def: "Abnormally developed (dysplastic) distal epiphysis of the radius." [HPO:curators] xref: UMLS:C1862131 is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0005014 name: radial ray hypoplasia namespace: medical_genetics xref: UMLS:C1840087 is_a: HP:0002984 ! Hypoplasia of the radius [Term] id: HP:0005015 name: Flared, widened metaphyses namespace: medical_genetics xref: UMLS:C1517205 xref: UMLS:C1846158 is_a: HP:0003015 ! Metaphyseal flaring [Term] id: HP:0005017 name: polyarticular chondrocalcinosis namespace: medical_genetics xref: UMLS:C0240789 xref: UMLS:C0553730 is_a: HP:0000934 ! Chondrocalcinosis [Term] id: HP:0005018 name: enlarged, poorly modeled metaphyses namespace: medical_genetics xref: UMLS:C0205169 xref: UMLS:C0222671 xref: UMLS:C0442800 xref: UMLS:C0870071 xref: UMLS:C1293134 is_a: HP:0003051 ! Enlarged metaphyses [Term] id: HP:0005019 name: Diaphyseal thickening namespace: medical_genetics xref: UMLS:C1835473 is_a: HP:0000940 ! Abnormality of the diaphyses [Term] id: HP:0005021 name: Bilateral elbow dislocations namespace: medical_genetics xref: UMLS:C1855541 is_a: HP:0003042 ! Elbow dislocation [Term] id: HP:0005022 name: mild, lateral femoral bowing namespace: medical_genetics xref: UMLS:C0547040 xref: UMLS:C1866737 is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005023 name: small, flattened irregular epiphyses namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C0700321 xref: UMLS:C1857527 is_a: HP:0003039 ! Small, irregular epiphyses [Term] id: HP:0005025 name: hypoplastic distal humerii namespace: medical_genetics synonym: "Hypoplastic distal humeri" EXACT [] xref: UMLS:C0205108 xref: UMLS:C0543481 xref: UMLS:C1968607 is_a: HP:0005792 ! Humeral hypoplasia [Term] id: HP:0005026 name: mesomelic/rhizomelic limb shortening namespace: medical_genetics xref: UMLS:C0549306 xref: UMLS:C1853168 is_a: HP:0002968 ! Rhizomelic shortening [Term] id: HP:0005028 name: Widened proximal tibial metaphyses namespace: medical_genetics xref: UMLS:C1836187 is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0005029 name: short, thickened tubular bones namespace: medical_genetics xref: UMLS:C0151747 xref: UMLS:C0205400 xref: UMLS:C0262950 xref: UMLS:C0332208 xref: UMLS:C1266909 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0003026 ! Short long bones [Term] id: HP:0005030 name: diminished joint mobility at elbows, knees, and hips namespace: medical_genetics xref: UMLS:C0013769 xref: UMLS:C0019552 xref: UMLS:C0022742 xref: UMLS:C0205216 xref: UMLS:C1820723 is_a: HP:0002996 ! Limited elbow movement is_a: HP:0008800 ! Limited hip movement is_a: HP:0010501 ! Limitation of knee mobility [Term] id: HP:0005031 name: Achilles tendon contractures, mild namespace: medical_genetics xref: UMLS:C0410264 xref: UMLS:C0547040 is_a: HP:0001771 ! Achilles tendon contracture [Term] id: HP:0005032 name: Irregular mushroomed metaphyses namespace: medical_genetics xref: UMLS:C1867493 is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0005033 name: ulnar hypoplasia, distal namespace: medical_genetics alt_id: HP:0006474 synonym: "Distal shortening of ulna" EXACT [] synonym: "Hypoplastic distal ulna" EXACT [] xref: UMLS:C0041600 xref: UMLS:C0205108 xref: UMLS:C0441636 xref: UMLS:C1279087 xref: UMLS:C1860614 xref: UMLS:C1970818 is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0005034 name: Mild joint hypermobility namespace: medical_genetics def: "The ability of the joints to move somewhat beyond their normal range of motion." [HPO:curators] xref: UMLS:C1833778 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005035 name: short phalanges both hands and feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0018563 xref: UMLS:C0347981 xref: UMLS:C1837680 is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand [Term] id: HP:0005036 name: unilateral ulnar hypoplasia namespace: medical_genetics xref: UMLS:C1837832 is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0005037 name: Proximal radio-ulnar synostosis namespace: medical_genetics def: "An abnormal osseous union (fusion) between the proximal portions of the radius and the ulna." [HPO:curators] xref: UMLS:C0431795 is_a: HP:0002974 ! Radioulnar synostosis [Term] id: HP:0005038 name: Widened, irregular metaphyses namespace: medical_genetics alt_id: HP:0005016 alt_id: HP:0005058 def: "Abnormal widening and irregularity of the metaphyses." [HPO:curators] synonym: "Broad, irregular metaphyses" EXACT [] synonym: "Irregular, widened metaphyses" EXACT [] xref: UMLS:C0205271 xref: UMLS:C0332464 xref: UMLS:C1846158 xref: UMLS:C1846448 xref: UMLS:C1854911 is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0005039 name: multiple exostoses of long tubular bones namespace: medical_genetics xref: UMLS:C0015306 xref: UMLS:C0151747 xref: UMLS:C0222647 xref: UMLS:C0332208 xref: UMLS:C1282773 is_a: HP:0002762 ! Multiple exostoses [Term] id: HP:0005040 name: distal ulceration and osteomyelitis leading to autoamputation namespace: medical_genetics synonym: "Acral ulceration and osteomyelitis leading to autoamputation" EXACT [] xref: UMLS:C0029443 xref: UMLS:C0041582 xref: UMLS:C0205108 xref: UMLS:C0332152 xref: UMLS:C1522538 xref: UMLS:C1833222 xref: UMLS:C1837604 xref: UMLS:C1963256 is_a: HP:0007460 ! Autoamputation of digits [Term] id: HP:0005041 name: Small, irregular capital femoral epiphyses namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C1839254 is_a: HP:0003090 ! Hypoplasia of the capital femoral epiphysis [Term] id: HP:0005042 name: Irregular, rachitic-like metaphyses namespace: medical_genetics xref: UMLS:C0035579 xref: UMLS:C0205271 xref: UMLS:C0222671 is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0005043 name: irregular proximal humeral metaphyses namespace: medical_genetics xref: UMLS:C1865128 is_a: HP:0003913 ! Irregular humeral metaphyses [Term] id: HP:0005044 name: very short, broad tubular bones namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C1850299 is_a: HP:0003026 ! Short long bones [Term] id: HP:0005045 name: diaphyseal cortical sclerosis namespace: medical_genetics xref: UMLS:C1833739 is_a: HP:0003034 ! Diaphyseal sclerosis [Term] id: HP:0005046 name: hypoplastic/absent/deformed radius namespace: medical_genetics xref: UMLS:C0034627 xref: UMLS:C0332197 xref: UMLS:C0333067 xref: UMLS:C0543481 xref: UMLS:C1279083 xref: UMLS:C1306504 is_a: HP:0003977 ! Deformed radius [Term] id: HP:0005047 name: camptodactyly with ulnar deviation namespace: medical_genetics xref: UMLS:C0221369 xref: UMLS:C0449752 xref: UMLS:C0685409 is_a: HP:0100490 ! Camptodactyly (hands) [Term] id: HP:0005048 name: Synostosis of carpal bones namespace: medical_genetics synonym: "Fused capitate and hamate" EXACT [] synonym: "Fusion of carpal bones" EXACT [] synonym: "Fusion of carpal bones, especially capitate and hamate" EXACT [] synonym: "Fusion of hamate and capitate" EXACT [] xref: UMLS:C0007285 xref: UMLS:C0205555 xref: UMLS:C0223733 xref: UMLS:C0223744 xref: UMLS:C0332466 xref: UMLS:C0560737 xref: UMLS:C0699952 xref: UMLS:C1293131 xref: UMLS:C1306477 is_a: HP:0009702 ! Synostosis involving the carpal bones [Term] id: HP:0005049 name: short, bowed lower limbs namespace: medical_genetics xref: UMLS:C0544755 xref: UMLS:C1855192 is_a: HP:0003054 ! Short, bowed limbs [Term] id: HP:0005050 name: anterior/lateral radial head dislocation namespace: medical_genetics xref: UMLS:C0205093 xref: UMLS:C0205094 xref: UMLS:C0434609 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005051 name: Small, flattened epiphyses namespace: medical_genetics alt_id: HP:0005080 def: "Abnormally small and flat epiphyses." [HPO:curators] synonym: "Small flattened epiphyses" EXACT [] xref: UMLS:C0700321 xref: UMLS:C1857527 is_a: HP:0003071 ! Flattened epiphyses [Term] id: HP:0005052 name: very short long bones namespace: medical_genetics xref: UMLS:C1850297 is_a: HP:0003026 ! Short long bones [Term] id: HP:0005054 name: Wide metaphyses with lateral spurs namespace: medical_genetics xref: UMLS:C0205093 xref: UMLS:C0222032 xref: UMLS:C1849039 is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0005055 name: mildly flared irregular metaphyses namespace: medical_genetics xref: UMLS:C0547040 xref: UMLS:C0750532 xref: UMLS:C1517205 xref: UMLS:C1846448 is_a: HP:0000945 ! Flared irregular metaphyses [Term] id: HP:0005056 name: absent carpals, metacarpals, and phalanges namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0025526 xref: UMLS:C0223792 xref: UMLS:C0332197 xref: UMLS:C1322271 is_a: HP:0004231 ! Absent carpal bones/absent ossification of the carpal bones [Term] id: HP:0005057 name: severe limb shortening namespace: medical_genetics synonym: "Severe limb shortness" EXACT [] xref: UMLS:C0015385 xref: UMLS:C0205082 xref: UMLS:C1280090 xref: UMLS:C1519275 xref: UMLS:C1806781 xref: UMLS:C1835446 xref: UMLS:C2350002 is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0005059 name: arthralgia/arthritis namespace: medical_genetics xref: UMLS:C0003862 xref: UMLS:C0003864 is_a: HP:0002829 ! Arthralgia [Term] id: HP:0005060 name: limited elbow flexion/extension namespace: medical_genetics xref: UMLS:C0231448 xref: UMLS:C1856922 xref: UMLS:C1880641 is_a: HP:0001377 ! Limited elbow extension [Term] id: HP:0005061 name: short, dumbbell appearance of long bones namespace: medical_genetics xref: UMLS:C0222647 xref: UMLS:C0233426 xref: UMLS:C0700364 xref: UMLS:C1282773 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0000947 ! Dumbbell-shaped long bones [Term] id: HP:0005062 name: Sclerotic, irregular metaphyses namespace: medical_genetics alt_id: HP:0004995 alt_id: HP:0005078 synonym: "Lucent/sclerotic metaphyseal irregularity" EXACT [] synonym: "Metaphyseal irregularity and sclerosis" EXACT [] xref: UMLS:C0036429 xref: UMLS:C0334135 xref: UMLS:C1846448 xref: UMLS:C1865199 is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0005063 name: Fragmented, irregular epiphyses namespace: medical_genetics xref: UMLS:C0392767 xref: UMLS:C1708096 xref: UMLS:C1846449 is_a: HP:0010582 ! Irregular epiphyses is_a: HP:0100168 ! Fragmented epiphyses [Term] id: HP:0005064 name: short, slender long bones namespace: medical_genetics xref: UMLS:C1854912 is_a: HP:0003096 ! Slender long bones [Term] id: HP:0005065 name: Mild metaphyseal irregularities namespace: medical_genetics xref: UMLS:C0547040 xref: UMLS:C1865199 is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0005066 name: cone-shaped epiphyses fused within their metaphyses namespace: medical_genetics xref: UMLS:C0222671 xref: UMLS:C0699952 xref: UMLS:C1865037 is_a: HP:0010579 ! Cone-shaped epiphyses [Term] id: HP:0005067 name: Proximal fibular overgrowth namespace: medical_genetics def: "Overgrowth of the proximal part of the fibula." [HPO:curators] xref: UMLS:C0205107 xref: UMLS:C1864298 is_a: HP:0003099 ! Fibular overgrowth [Term] id: HP:0005068 name: absent styloid processes namespace: medical_genetics xref: UMLS:C1849004 is_a: HP:0004035 ! Abnormality of the styloid process [Term] id: HP:0005069 name: rhizo-meso-acromelic limb shortening namespace: medical_genetics xref: UMLS:C1849181 is_a: HP:0002968 ! Rhizomelic shortening [Term] id: HP:0005070 name: proximal radial head dislocation namespace: medical_genetics xref: UMLS:C1865570 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005071 name: Dumbbell widening of long bone metaphyses namespace: medical_genetics synonym: "Dumbbell widening of long bone metaphyses, especially femurs and humeri" EXACT [] xref: UMLS:C0015811 xref: UMLS:C0020164 xref: UMLS:C0205555 xref: UMLS:C0222671 xref: UMLS:C0332464 xref: UMLS:C1279075 xref: UMLS:C1279112 is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0005072 name: Hyperextensibility at wrists namespace: medical_genetics def: "The ability of the wrist joints to move beyond their normal range of motion." [HPO:curators] synonym: "Increased laxity of wrists" EXACT [] xref: UMLS:C0043262 xref: UMLS:C0332537 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005073 name: moderate limitation of elbow extension namespace: medical_genetics xref: UMLS:C0205081 xref: UMLS:C0449295 xref: UMLS:C1862503 xref: UMLS:C1881878 is_a: HP:0001377 ! Limited elbow extension [Term] id: HP:0005075 name: dumbbell-shaped short long bones namespace: medical_genetics xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1854912 is_a: HP:0000947 ! Dumbbell-shaped long bones [Term] id: HP:0005077 name: slightly short long bones namespace: medical_genetics xref: UMLS:C1849066 is_a: HP:0003026 ! Short long bones [Term] id: HP:0005079 name: short, broad dumbbell-shaped tubular bones with irregular metaphyses namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1846448 xref: UMLS:C1865033 is_a: HP:0002810 ! Dumbbell-shaped metaphyses [Term] id: HP:0005081 name: mild radial hypoplasia namespace: medical_genetics xref: UMLS:C0547040 xref: UMLS:C1865127 is_a: HP:0002984 ! Hypoplasia of the radius [Term] id: HP:0005082 name: flattened, enlarged epiphyses namespace: medical_genetics xref: UMLS:C0016203 xref: UMLS:C1848495 is_a: HP:0003071 ! Flattened epiphyses is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0005083 name: short, deformed tubular bones namespace: medical_genetics xref: UMLS:C0333067 xref: UMLS:C1865033 is_a: HP:0003026 ! Short long bones [Term] id: HP:0005084 name: anterior dislocation of radial head namespace: medical_genetics xref: UMLS:C0223696 xref: UMLS:C1265658 xref: UMLS:C2109963 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005085 name: limited knee flexion/extension namespace: medical_genetics def: "A limited ability of the knee joint extension and flexion." [HPO:curators] xref: UMLS:C0231448 xref: UMLS:C1839512 xref: UMLS:C1880641 is_a: HP:0003066 ! Limited knee extension [Term] id: HP:0005086 name: Knee osteoarthritis namespace: medical_genetics xref: UMLS:C0409959 is_a: HP:0002758 ! Osteoarthritis is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0005088 name: Metaphyseal widening with spurs namespace: medical_genetics xref: UMLS:C0222032 xref: UMLS:C1855248 is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0005089 name: Abnormal metaphyseal trabeculation namespace: medical_genetics xref: UMLS:C1857139 is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0005090 name: lateral femoral bowing namespace: medical_genetics xref: UMLS:C1866737 is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005091 name: Asymmetric limb shortening namespace: medical_genetics def: "Shortening of the limbs that affects one side more than the other." [HPO:curators] xref: UMLS:C1844844 is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0005092 name: irregular, flared metaphyses with streaky sclerosis namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C1517205 xref: UMLS:C1846448 xref: UMLS:C2348542 is_a: HP:0000945 ! Flared irregular metaphyses [Term] id: HP:0005093 name: Absent proximal radial epiphyses namespace: medical_genetics def: "Absence of the proximal radial epiphysis." [HPO:curators] xref: UMLS:C1855301 is_a: HP:0010577 ! Absent epiphyses is_a: HP:0010596 ! Abnormality of the proximal radial epiphysis [Term] id: HP:0005096 name: distal femoral bowing namespace: medical_genetics xref: UMLS:C1860107 is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005097 name: ulnar hypoplasia/aplasia namespace: medical_genetics xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1860614 is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0005098 name: Chronic idiopathic polyhydramnios namespace: medical_genetics xref: UMLS:C1849720 is_a: HP:0001561 ! Polyhydramnios [Term] id: HP:0005099 name: Severe hydrops fetalis namespace: medical_genetics synonym: "Severe hydrops" EXACT [] xref: UMLS:C1859122 xref: UMLS:C1866048 is_a: HP:0001789 ! Hydrops fetalis [Term] id: HP:0005100 name: premature birth following premature rupture of fetal membranes namespace: medical_genetics xref: UMLS:C0015943 xref: UMLS:C0035955 xref: UMLS:C0151526 xref: UMLS:C0205252 xref: UMLS:C1719822 xref: UMLS:C1881712 xref: UMLS:C2028283 is_a: HP:0001788 ! Premature rupture of membranes [Term] id: HP:0005101 name: High-frequency hearing impairment namespace: medical_genetics def: "A type of `hearing impairment` (HP:0000365) 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 [] xref: UMLS:C0018780 xref: UMLS:C0205212 xref: UMLS:C1384666 xref: UMLS:C2029884 is_a: HP:0000365 ! Hearing impairment created_by: peter creation_date: 2008-03-25T05:03:00Z [Term] id: HP:0005102 name: Cochlear degeneration namespace: medical_genetics def: "`Degeneration` (PATO:0002037) of the `cochlea` (FMA:60201)." [HPO:probinson] xref: UMLS:C1849095 is_a: HP:0000375 ! Abnormality of cochlea created_by: peter creation_date: 2008-03-25T05:06:00Z [Term] id: HP:0005103 name: Cartilaginous ossification of pinnae namespace: medical_genetics def: "Ossification affecting the `external ear cartilage` (FMA:61339)." [HPO:probinson] synonym: "Ossification of pinnae" EXACT [] xref: UMLS:C0013453 xref: UMLS:C0029433 xref: UMLS:C0231561 xref: UMLS:C0928075 xref: UMLS:C1047272 xref: UMLS:C1706219 is_a: HP:0000356 ! Abnormality of the outer ear created_by: peter creation_date: 2008-03-25T05:09:00Z [Term] id: HP:0005104 name: Hypoplastic nasal septum namespace: medical_genetics def: "Underdevelopment of the nasal septum." [HPO:curators] xref: UMLS:C1861328 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 namespace: medical_genetics comment: This is a category for overall abnormal morphology that may be replaced later with more exact descriptions. xref: UMLS:C0028429 xref: UMLS:C0205161 xref: UMLS:C0332437 xref: UMLS:C0521140 xref: UMLS:C0543482 xref: UMLS:C0700329 xref: UMLS:C0700619 xref: UMLS:C2347472 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 namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0549207 xref: UMLS:C1704258 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 namespace: medical_genetics def: "An abnormality of the `sacral bone` (FMA:16202)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0036037 xref: UMLS:C1269542 xref: UMLS:C1704258 is_a: HP:0000925 ! Abnormality of the vertebral column created_by: peter creation_date: 2008-03-25T06:03:00Z [Term] id: HP:0005108 name: Abnormality of the intervertebral disk namespace: medical_genetics def: "An abnormality of the `intervertebral disk` (FMA:10446)." [HPO:probinson] comment: Any abnormality of the fibrocartilaginous structures that are located between adjacent vertebral bodies. xref: UMLS:C0000768 xref: UMLS:C0021815 xref: UMLS:C1704258 is_a: HP:0000925 ! Abnormality of the vertebral column created_by: peter creation_date: 2008-03-25T06:05:00Z [Term] id: HP:0005109 name: Abnormality of the Achilles tendon namespace: medical_genetics def: "An abnormality of the `Achilles tendon` (FMA:51061)." [HPO:probinson] synonym: "Abnormality of the calcaneal tendon" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0001074 xref: UMLS:C1305378 xref: UMLS:C1704258 is_a: HP:0001760 ! Abnormality of the feet is_a: HP:0100261 ! Abnormality of the tendons created_by: peter creation_date: 2008-03-25T06:21:00Z [Term] id: HP:0005110 name: Atrial fibrillation namespace: medical_genetics xref: UMLS:C0004238 xref: UMLS:C1963067 xref: UMLS:C2041124 xref: UMLS:C2108067 is_a: HP:0001692 ! Atrial arrhythmias created_by: peter creation_date: 2008-03-25T06:29:00Z [Term] id: HP:0005111 name: Dilatation of the ascending aorta namespace: medical_genetics alt_id: HP:0005128 synonym: "Dilation of the ascending aorta" EXACT [] xref: UMLS:C0003956 xref: UMLS:C0012356 xref: UMLS:C0012359 xref: UMLS:C0392800 xref: UMLS:C0393293 xref: UMLS:C1269009 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 namespace: medical_genetics xref: UMLS:C0003484 xref: UMLS:C0012356 xref: UMLS:C0012359 xref: UMLS:C1269882 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 namespace: medical_genetics alt_id: HP:0004965 synonym: "Aortic arch dilatation" EXACT [] xref: UMLS:C0003489 xref: UMLS:C0012356 xref: UMLS:C0012359 xref: UMLS:C1269010 xref: UMLS:C1851119 is_a: HP:0001724 ! Aortic dilatation created_by: peter creation_date: 2008-03-25T06:34:00Z [Term] id: HP:0005114 name: Abnormalities of the peripheral arteries namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0489868 is_a: HP:0002620 ! Systemic artery abnormality created_by: peter creation_date: 2008-03-25T06:35:00Z [Term] id: HP:0005115 name: Supraventricular arrhythmia namespace: medical_genetics xref: UMLS:C0428974 xref: UMLS:C1963243 is_a: HP:0001665 ! Abnormality of cardiac conduction created_by: peter creation_date: 2008-03-25T06:37:00Z [Term] id: HP:0005116 name: Arterial tortuosity namespace: medical_genetics def: "Abnormal tortuous (i.e., twisted) form of arteries." [HPO:curators] xref: UMLS:C1859726 is_a: HP:0002620 ! Systemic artery abnormality is_a: HP:0004948 ! Vascular tortuosity created_by: peter creation_date: 2008-03-25T06:39:00Z [Term] id: HP:0005117 name: Elevated diastolic blood pressure namespace: medical_genetics xref: UMLS:C1840375 is_a: HP:0000822 ! Hypertension created_by: peter creation_date: 2008-03-25T06:43:00Z [Term] id: HP:0005120 name: Abnormality of the cardiac atria namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0018792 xref: UMLS:C1704258 is_a: HP:0002564 ! Cardiac malformation created_by: peter creation_date: 2008-03-26T04:12:00Z [Term] id: HP:0005121 name: Posterior scalloping of vertebral bodies namespace: medical_genetics alt_id: HP:0004572 alt_id: HP:0004579 def: "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." [HPO:curators] synonym: "Posterior vertebral body scalloping" EXACT [] xref: UMLS:C0223084 xref: UMLS:C1832596 is_a: HP:0004620 ! Scalloping of vertebral bodies [Term] id: HP:0005129 name: Congenital hypertrophy of left ventricle namespace: medical_genetics xref: UMLS:C0225897 xref: UMLS:C0332887 xref: UMLS:C1269892 is_a: HP:0001712 ! Left ventricular hypertrophy [Term] id: HP:0005130 name: Restrictive heart failure namespace: medical_genetics xref: UMLS:C1832374 is_a: HP:0001635 ! Congestive heart failure [Term] id: HP:0005132 name: Pericardial constriction namespace: medical_genetics xref: UMLS:C0240709 is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0005133 name: Right ventricular dilatation namespace: medical_genetics xref: UMLS:C0344893 is_a: HP:0001707 ! Right ventricular abnormality [Term] id: HP:0005134 name: Absence of the pulmonary valve namespace: medical_genetics alt_id: HP:0005131 synonym: "Absent pulmonary valve" EXACT [] xref: UMLS:C0034086 xref: UMLS:C0265831 xref: UMLS:C1269007 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0005135 name: EKG: T-wave abnormalities namespace: medical_genetics def: "An abnormality of the T wave on the electrocardiogram, which mainly represents the repolarization of the ventricles." [HPO:probinson] xref: UMLS:C1839341 is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0005136 name: Premature calcification of mitral annulus namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C0205252 xref: UMLS:C0225947 xref: UMLS:C1305163 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0004382 ! Mitral valve calcification [Term] id: HP:0005137 name: Sinus bradycardia, isolated namespace: medical_genetics xref: UMLS:C0085610 xref: UMLS:C0205409 xref: UMLS:C1963175 xref: UMLS:C2108107 is_a: HP:0001688 ! Sinus bradycardia [Term] id: HP:0005138 name: Coronary artery disease presenting after age 30 years in heterozygotes, in childhood in homozygotes namespace: medical_genetics xref: UMLS:C0010068 xref: UMLS:C0019425 xref: UMLS:C0019904 xref: UMLS:C0231335 xref: UMLS:C0449450 xref: UMLS:C1510829 xref: UMLS:C1956346 is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0005141 name: Episodes of ventricular tachycardia namespace: medical_genetics xref: UMLS:C0042514 xref: UMLS:C0332189 xref: UMLS:C1963247 xref: UMLS:C2108113 is_a: HP:0004756 ! Ventricular tachycardia [Term] id: HP:0005142 name: Atrioventricular nodal disease namespace: medical_genetics xref: UMLS:C1841659 is_a: HP:0001665 ! Abnormality of cardiac conduction [Term] id: HP:0005143 name: Right pulmonary artery, anomalous origin of namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0226054 xref: UMLS:C0439659 xref: UMLS:C0923924 xref: UMLS:C1269884 xref: UMLS:C1550512 xref: UMLS:C1704257 xref: UMLS:C1704258 is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0005144 name: Left ventricular septal hypertrophy namespace: medical_genetics xref: UMLS:C1845019 is_a: HP:0010438 ! Abnormality of the ventricular septum [Term] id: HP:0005145 name: Coronary artery stenosis namespace: medical_genetics xref: UMLS:C0242231 is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0005146 name: Calcifications of the cardiac valves namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0018825 xref: UMLS:C0018826 xref: UMLS:C0175895 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0001654 ! Abnormality of the heart valves is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0005147 name: Bidirectional ventricular ectopy namespace: medical_genetics xref: UMLS:C1969410 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0005148 name: Pulmonary valve defects namespace: medical_genetics xref: UMLS:C1860165 is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0005149 name: Mitral stenosis due to calcifications namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0026269 xref: UMLS:C0175895 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0001718 ! Mitral stenosis is_a: HP:0004382 ! Mitral valve calcification [Term] id: HP:0005150 name: Atrioventricular conduction disturbances namespace: medical_genetics xref: UMLS:C1834655 is_a: HP:0005142 ! Atrioventricular nodal disease [Term] id: HP:0005151 name: Proximal aortic coarctation namespace: medical_genetics xref: UMLS:C1840313 is_a: HP:0001680 ! Coarctation of aorta [Term] id: HP:0005152 name: Oncocytic cardiomyopathy namespace: medical_genetics xref: UMLS:C1708371 is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0005155 name: Ventricular escape rhythms namespace: medical_genetics xref: UMLS:C0232216 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0005156 name: Hypoplastic left atrium namespace: medical_genetics xref: UMLS:C1970625 is_a: HP:0005120 ! Abnormality of the cardiac atria [Term] id: HP:0005157 name: Concentric hypertrophic cardiomyopathy namespace: medical_genetics xref: UMLS:C0238044 is_a: HP:0001639 ! Hypertrophic cardiomyopathy [Term] id: HP:0005159 name: Dilated cardiomyopathy may be present namespace: medical_genetics xref: UMLS:C0007193 xref: UMLS:C0150312 xref: UMLS:C0449450 is_a: HP:0001644 ! Dilated cardiomyopathy [Term] id: HP:0005160 name: Total anomalous pulmonary venous return namespace: medical_genetics 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:curators] 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 is_a: HP:0010772 ! Anomalous pulmonary venous return [Term] id: HP:0005161 name: Premature sudden cardiac death namespace: medical_genetics xref: UMLS:C1968862 is_a: HP:0001645 ! Sudden cardiac death [Term] id: HP:0005162 name: Impaired left ventricular function namespace: medical_genetics alt_id: HP:0005154 synonym: "Left ventricular impairment" EXACT [] xref: UMLS:C0080310 xref: UMLS:C0221099 xref: UMLS:C0684336 xref: UMLS:C1846679 xref: UMLS:C2024902 is_a: HP:0001711 ! Left ventricular abnormality [Term] id: HP:0005164 name: Dysplastic pulmonary valve namespace: medical_genetics xref: UMLS:C1866206 is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0005165 name: Shortened P-R interval on EKG namespace: medical_genetics synonym: "Electrocardiographic short pr interval" EXACT [] synonym: "Short pr interval" EXACT [] xref: UMLS:C0429087 xref: UMLS:C0520878 xref: UMLS:C1623258 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0005166 name: Idiopathic ventricular fibrillation namespace: medical_genetics xref: UMLS:C0340493 is_a: HP:0001663 ! Ventricular fibrillation [Term] id: HP:0005167 name: Ventricular hypertrophy on ECG namespace: medical_genetics xref: UMLS:C0018064 xref: UMLS:C0059422 xref: UMLS:C0340279 xref: UMLS:C1623258 is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0005168 name: Elevated right atrial pressure namespace: medical_genetics xref: UMLS:C1867421 is_a: HP:0005120 ! Abnormality of the cardiac atria [Term] id: HP:0005170 name: Complete heart block with broad RS complexes namespace: medical_genetics xref: UMLS:C0151517 xref: UMLS:C0332464 xref: UMLS:C0439855 xref: UMLS:C2215935 is_a: HP:0001709 ! Complete heart block [Term] id: HP:0005171 name: Left ventricular wall hypertrophy namespace: medical_genetics xref: UMLS:C1845018 is_a: HP:0001712 ! Left ventricular hypertrophy [Term] id: HP:0005172 name: Left anterior or posterior hemiblock namespace: medical_genetics xref: UMLS:C0205095 xref: UMLS:C0441998 xref: UMLS:C0920014 is_a: HP:0001668 ! Heart block [Term] id: HP:0005173 name: Aortic stenosis due to calcifications namespace: medical_genetics xref: UMLS:C0003507 xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0001650 ! Aortic stenosis [Term] id: HP:0005174 name: Membranous subvalvular aortic stenosis namespace: medical_genetics xref: UMLS:C1848978 is_a: HP:0001682 ! Subaortic stenosis [Term] id: HP:0005176 name: Dysplastic aortic valve namespace: medical_genetics xref: UMLS:C1866207 is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0005177 name: Premature arteriosclerosis namespace: medical_genetics xref: UMLS:C1848486 is_a: HP:0002634 ! Arteriosclerosis [Term] id: HP:0005178 name: Complete heart block with narrow QRS complexes namespace: medical_genetics xref: UMLS:C0151517 xref: UMLS:C0429027 xref: UMLS:C2215935 is_a: HP:0001709 ! Complete heart block [Term] id: HP:0005179 name: Atrial fibrillation may occur namespace: medical_genetics xref: UMLS:C0004238 xref: UMLS:C1709305 xref: UMLS:C1963067 xref: UMLS:C2041124 xref: UMLS:C2108067 is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0005180 name: Tricuspid insufficiency namespace: medical_genetics alt_id: HP:0004753 synonym: "Tricuspid regurgitation" EXACT [] xref: UMLS:C0040961 xref: UMLS:C0264778 is_a: HP:0001702 ! Abnormality of the tricuspid valve [Term] id: HP:0005181 name: Premature coronary artery disease namespace: medical_genetics xref: UMLS:C1867743 is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0005182 name: Bicuspid pulmonary valve namespace: medical_genetics def: "The presence of a bicuspid `pulmonary valve` (FMA:7246)." [HPO:probinson] comment: The pulmonary valve normally has three cusps (flaps), that is, it is normally tricuspid. xref: UMLS:C0344987 is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0005183 name: Pericardial lymphangiectasia namespace: medical_genetics xref: UMLS:C1856140 is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0005184 name: Prolonged QTc interval namespace: medical_genetics xref: UMLS:C1560305 xref: UMLS:C1963217 is_a: HP:0001657 ! Prolonged QT interval on EKG [Term] id: HP:0005185 name: Global systolic dysfunction namespace: medical_genetics xref: UMLS:C1847397 is_a: HP:0006673 ! Reduced systolic function [Term] id: HP:0005186 name: Synovial hypertrophy namespace: medical_genetics xref: UMLS:C0410574 is_a: HP:0005262 ! Abnormality of the synovia [Term] id: HP:0005187 name: Progressive joint destruction namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0541875 is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0005188 name: Contractures, multiple congenital namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0009917 xref: UMLS:C0439064 xref: UMLS:C1744681 is_a: HP:0002803 ! Congenital contractures [Term] id: HP:0005189 name: Mild to moderate improving contractures namespace: medical_genetics xref: UMLS:C0009917 xref: UMLS:C1272745 xref: UMLS:C1299392 is_a: HP:0001371 ! Contractures [Term] id: HP:0005190 name: Proximal finger joint hyperextensibility namespace: medical_genetics xref: UMLS:C0205107 xref: UMLS:C1844577 is_a: HP:0001187 ! Hyperextensibility of the finger joints [Term] id: HP:0005191 name: Congenital knee dislocation namespace: medical_genetics xref: UMLS:C0265669 is_a: HP:0004976 ! Dislocations of the knees [Term] id: HP:0005192 name: Limited knee movement namespace: medical_genetics xref: UMLS:C0022742 xref: UMLS:C0022745 xref: UMLS:C0026649 xref: UMLS:C0439801 xref: UMLS:C1283838 xref: UMLS:C1963703 is_a: HP:0001376 ! Decreased mobility of joints is_a: HP:0002815 ! Abnormality of the knees is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0005193 name: Restricted large joint movement namespace: medical_genetics xref: UMLS:C0443288 xref: UMLS:C0542330 xref: UMLS:C0549177 xref: UMLS:C1572681 is_a: HP:0001376 ! Decreased mobility of joints is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0005194 name: Flattened metatarsal and metacarpal heads namespace: medical_genetics synonym: "Flattened metacarpal and metatarsal heads" EXACT [] xref: UMLS:C0016203 xref: UMLS:C0018670 xref: UMLS:C0025526 xref: UMLS:C0025584 xref: UMLS:C1269064 xref: UMLS:C1269609 xref: UMLS:C1706305 is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0005195 name: Polyarticular arthropathy namespace: medical_genetics xref: UMLS:C0022408 xref: UMLS:C0240789 is_a: HP:0003040 ! Arthropathy [Term] id: HP:0005196 name: Spontaneous joint hemorrhage namespace: medical_genetics xref: UMLS:C0022417 xref: UMLS:C0392905 xref: UMLS:C1269611 xref: UMLS:C1321132 xref: UMLS:C1706309 is_a: HP:0005261 ! Joint hemorrhage [Term] id: HP:0005197 name: Generalized morning stiffness namespace: medical_genetics def: "A sensation of stiffness in the joints that occurs following waking up in the morning." [HPO:curators] xref: UMLS:C0205246 xref: UMLS:C0457086 is_a: HP:0001387 ! Joint stiffness [Term] id: HP:0005198 name: Stiff interphalangeal joints namespace: medical_genetics 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 is_a: HP:0001387 ! Joint stiffness [Term] id: HP:0005199 name: Aplasia of the abdominal wall musculature namespace: medical_genetics def: "Absence of the `abdominal musculature` (FMA:86917)." [HPO:probinson] synonym: "Absent abdominal musculature " EXACT [] xref: UMLS:C0332197 xref: UMLS:C2334342 is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature [Term] id: HP:0005200 name: Retroperitoneal fibrosis namespace: medical_genetics xref: UMLS:C0035357 is_a: HP:0002585 ! Abnormality of the peritoneum [Term] id: HP:0005201 name: Anomalous splenoportal venous system namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C1267406 xref: UMLS:C1704257 xref: UMLS:C1704258 is_a: HP:0006707 ! Abnormality of the hepatic vasculature [Term] id: HP:0005202 name: Helicobacter pylori infection susceptibility namespace: medical_genetics xref: UMLS:C0012655 xref: UMLS:C0220898 xref: UMLS:C0850666 xref: UMLS:C1264642 xref: UMLS:C1547045 is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract [Term] id: HP:0005203 name: Spontaneous esophageal perforation namespace: medical_genetics alt_id: HP:0005251 synonym: "Spontaneous esophageal rupture" EXACT [] xref: UMLS:C0014852 xref: UMLS:C0014860 xref: UMLS:C0035956 xref: UMLS:C0205359 xref: UMLS:C0281839 xref: UMLS:C0333324 xref: UMLS:C1522619 is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0005205 name: Duodenal stenosis/atresia namespace: medical_genetics xref: UMLS:C0238093 xref: UMLS:C0243066 xref: UMLS:C2119047 is_a: HP:0002247 ! Duodenal atresia [Term] id: HP:0005206 name: Pancreatic pseudocysts namespace: medical_genetics xref: UMLS:C0030299 is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0005207 name: Gastric hypertrophy namespace: medical_genetics def: "`Hypertrophy` (MPATH:159) of the `stomach` (FMA:7148)." [HPO:probinson] xref: UMLS:C1834341 is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0005208 name: Congenital secretory diarrhea namespace: medical_genetics xref: UMLS:C0267661 is_a: HP:0002014 ! Diarrhea [Term] id: HP:0005209 name: Intrahepatic bile duct cysts namespace: medical_genetics def: "The presence of `cyst` (MPATH:62) of the `intrahepatic bile duct` (FMA:15766)." [HPO:probinson] xref: UMLS:C0005401 xref: UMLS:C0010709 xref: UMLS:C1257797 xref: UMLS:C1512948 is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct [Term] id: HP:0005210 name: Colon hypoplastic namespace: medical_genetics xref: UMLS:C0009368 xref: UMLS:C0543481 xref: UMLS:C1281569 is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0005211 name: Midgut malrotation namespace: medical_genetics xref: UMLS:C1849706 is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0005212 name: Anal mucosal leukoplakia namespace: medical_genetics xref: UMLS:C1844632 is_a: HP:0002034 ! Abnormality of the rectum [Term] id: HP:0005213 name: Pancreatic calcification namespace: medical_genetics def: "The presence of abnormal `calcium deposition` (MPATH:36) lesions in the `pancreas` (FMA:7198)." [HPO:probinson] synonym: "Pancreatic calcifications" EXACT [] xref: UMLS:C1842406 is_a: HP:0001732 ! Abnormality of the pancreas is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0005214 name: Intestinal obstruction namespace: medical_genetics xref: UMLS:C0021843 is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005215 name: Frequent Giardia lamblia infestation namespace: medical_genetics xref: UMLS:C0017535 xref: UMLS:C0332183 xref: UMLS:C0851341 xref: UMLS:C1384353 is_a: HP:0004798 ! Recurrent infection of the gastrointestinal tract [Term] id: HP:0005216 name: Chewing difficulties namespace: medical_genetics xref: UMLS:C0239043 is_a: HP:0002022 ! Feeding difficulties [Term] id: HP:0005217 name: Duplication of internal organs namespace: medical_genetics xref: UMLS:C0178784 xref: UMLS:C0205102 xref: UMLS:C0332597 xref: UMLS:C1553872 xref: UMLS:C1619620 xref: UMLS:C1705960 is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0005218 name: Anoperineal fistula namespace: medical_genetics def: "The presence of a fistula (abnormal tunnel) between the `anal canal` (FMA:15703) and the `perineum` (FMA:9579)." [HPO:probinson] xref: UMLS:C1835798 is_a: HP:0004871 ! Perineal fistula [Term] id: HP:0005219 name: Absence of intrinsic factor by immunoassay of gastric juices namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Intrinsic factor absent from gastric juice" EXACT [] xref: UMLS:C0017133 xref: UMLS:C0020980 xref: UMLS:C0021918 xref: UMLS:C0332197 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0005220 name: Multiple intestinal neurofibromatosis namespace: medical_genetics xref: UMLS:C0021853 xref: UMLS:C0162678 is_a: HP:0001067 ! Neurofibromas is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0005222 name: Bowel diverticulosis namespace: medical_genetics def: "The presence of `multiple` (PATO:0002118) `diverticula` (MPATH:68) of the `intestine` (FMA:7199)." [HPO:probinson] synonym: "Bowel diverticula" RELATED [] xref: UMLS:C1394691 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0005223 name: Duplicated colon namespace: medical_genetics xref: UMLS:C1850328 is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0005224 name: Rectal abscess namespace: medical_genetics synonym: "Perirectal abscesses" EXACT [] xref: UMLS:C0149770 xref: UMLS:C0267566 xref: UMLS:C1546764 is_a: HP:0002034 ! Abnormality of the rectum is_a: HP:0002722 ! Abscess formation in any organ [Term] id: HP:0005225 name: Intestinal edema namespace: medical_genetics xref: UMLS:C1142262 is_a: HP:0000969 ! Edema is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0005227 name: Multiple adenomatous colon polyps namespace: medical_genetics alt_id: HP:0005226 synonym: "Multiple colonic adenomatous polyps" EXACT [] xref: UMLS:C0009368 xref: UMLS:C0334294 xref: UMLS:C1281569 xref: UMLS:C1868071 is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0100273 ! Neoplasia of the colon is_a: HP:0200008 ! Multiple intestinal polyps [Term] id: HP:0005229 name: Jejunoileal ulceration namespace: medical_genetics xref: UMLS:C0041582 xref: UMLS:C1963256 is_a: HP:0001549 ! Abnormality of the ileum is_a: HP:0005265 ! Abnormality of the jejunum [Term] id: HP:0005230 name: Biliary tract obstruction namespace: medical_genetics def: "`Obstruction` (MPATH:80) affecting the `biliary tree` (FMA:14665)." [HPO:probinson] xref: UMLS:C0400979 is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0005231 name: Chronic gastritis namespace: medical_genetics def: "A `chronic` form of `gastritis` (HP:0005263)." [HPO:probinson] xref: UMLS:C0085695 is_a: HP:0005263 ! Gastritis [Term] id: HP:0005232 name: Pancreatic dysplasia namespace: medical_genetics def: "The presence of `developmental dysplasia` (MPATH:64) of the `pancreas` (FMA:7198)." [HPO:probinson] comment: Dysplasia is defined in MPATH as a distortion or deficiency of the tissue or cellular architecture. xref: UMLS:C0030274 xref: UMLS:C0334044 is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0005233 name: Hypoplasia of the gallbladder namespace: medical_genetics def: "The presence of a `hypoplastic` (PATO:0000645) `gallbladder` (FMA:7202)." [HPO:probinson] synonym: "Hypoplastic gallbladder" EXACT [] xref: UMLS:C0016976 xref: UMLS:C0543481 xref: UMLS:C1269001 is_a: HP:0005264 ! Abnormality of the gallbladder [Term] id: HP:0005234 name: Neonatal intestinal obstruction namespace: medical_genetics xref: UMLS:C0859974 is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005235 name: Nonduodenal intestinal atresia namespace: medical_genetics xref: UMLS:C1862495 is_a: HP:0002589 ! Gastrointestinal atresia [Term] id: HP:0005236 name: Chronic calcifying pancreatitis namespace: medical_genetics def: "A form of `chronic pancreatitis` (HP:0006280) that is characterized by `calcification` (PATO:0001447)." [HPO:probinson] xref: UMLS:C0149521 xref: UMLS:C0175895 xref: UMLS:C0238339 xref: UMLS:C1879982 is_a: HP:0006280 ! Chronic pancreatitis [Term] id: HP:0005237 name: Degenerative liver disease namespace: medical_genetics def: "The presence of `degenerative` (PATO:0000639) changes of the `liver` (FMA:7197)." [HPO:probinson] xref: UMLS:C0011164 xref: UMLS:C0023884 xref: UMLS:C0023895 xref: UMLS:C1278929 xref: UMLS:C1285162 xref: UMLS:C1880269 xref: UMLS:C2186532 xref: UMLS:C2346688 is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0005238 name: Discrete intestinal polyps namespace: medical_genetics xref: UMLS:C0021846 is_a: HP:0005266 ! Intestinal polyps [Term] id: HP:0005239 name: Recurrent symptoms and signs of intestinal obstruction namespace: medical_genetics xref: UMLS:C0021843 xref: UMLS:C0034897 xref: UMLS:C0220912 xref: UMLS:C0220913 xref: UMLS:C0311392 xref: UMLS:C0683368 xref: UMLS:C1457887 is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005240 name: Esophageal obstruction namespace: medical_genetics xref: UMLS:C0239296 is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005241 name: Aganglionosis, total intestinal namespace: medical_genetics xref: UMLS:C0019569 xref: UMLS:C0021853 xref: UMLS:C0439175 xref: UMLS:C0439810 is_a: HP:0004362 ! Abnormality of the enteric ganglia [Term] id: HP:0005242 name: Extrahepatic biliary duct atresia namespace: medical_genetics alt_id: HP:0006553 def: "`Atresia` (PATO:0001819) in the `extrahepatic bile duct` (FMA:14678)." [HPO:probinson] synonym: "Biliary atresia, extrahepatic" EXACT [] xref: UMLS:C0005411 xref: UMLS:C0431594 xref: UMLS:C0687028 xref: UMLS:C1267211 xref: UMLS:C1517058 xref: UMLS:C1705650 is_a: HP:0005912 ! Biliary duct atresia [Term] id: HP:0005243 name: Partial abdominal muscle agenesis namespace: medical_genetics xref: UMLS:C0000739 xref: UMLS:C0332908 is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature [Term] id: HP:0005244 name: Gastrointestinal infarctions namespace: medical_genetics xref: UMLS:C0021308 xref: UMLS:C0521362 xref: UMLS:C1559265 is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0005245 name: Intestinal hypoplasia namespace: medical_genetics def: "Developmental hypoplasia of the `intestine` (FMA:7199)." [HPO:probinson] synonym: "Hypoplastic intestines" EXACT [] xref: UMLS:C0021853 xref: UMLS:C0543481 is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0005246 name: Giant hypertrophic gastritis namespace: medical_genetics def: "A type of `gastritis` (HP:0005263) 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 is_a: HP:0005263 ! Gastritis [Term] id: HP:0005247 name: Hypoplasia of the abdominal wall musculature namespace: medical_genetics def: "Underdevelopment of the `abdominal musculature` (FMA:86917)." [HPO:probinson] synonym: "Abdominal muscular hypoplasia" EXACT [] xref: UMLS:C0000726 xref: UMLS:C0000739 xref: UMLS:C0240414 xref: UMLS:C0243069 xref: UMLS:C0543481 is_a: HP:0010318 ! Aplasia/Hypoplasia of the abdominal wall musculature [Term] id: HP:0005248 name: Intrahepatic biliary atresia namespace: medical_genetics def: "`Atresia` (PATO:0001819) in the `intrahepatic bile duct` (FMA:15766)." [HPO:probinson] synonym: "Intrahepatic atresia of biliary duct" EXACT [] xref: UMLS:C0005400 xref: UMLS:C0243066 xref: UMLS:C0431593 xref: UMLS:C1512948 xref: UMLS:C2119047 is_a: HP:0005912 ! Biliary duct atresia is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct [Term] id: HP:0005249 name: Functional intestinal obstruction namespace: medical_genetics xref: UMLS:C0021843 xref: UMLS:C0205245 xref: UMLS:C0542341 is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005250 name: High intestinal obstruction namespace: medical_genetics xref: UMLS:C0021843 xref: UMLS:C0205250 xref: UMLS:C1299351 is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005252 name: Reduced anterior-posterior chest diameter namespace: medical_genetics xref: UMLS:C1849733 is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0005253 name: Increased anterioposterior diameter of chest namespace: medical_genetics xref: UMLS:C0332518 xref: UMLS:C0817096 xref: UMLS:C1456858 xref: UMLS:C1527391 is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0005254 name: Unilateral chest hypoplasia namespace: medical_genetics xref: UMLS:C1845576 is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0005255 name: Absence of pectoralis minor muscle namespace: medical_genetics synonym: "Pectoralis minor aplasia" EXACT [] xref: UMLS:C0224347 xref: UMLS:C1689985 xref: UMLS:C1834393 xref: UMLS:C2107118 is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0005256 name: Unilateral hypoplasia or absence of pectoralis major muscle namespace: medical_genetics xref: UMLS:C0334077 xref: UMLS:C0585574 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0005255 ! Absence of pectoralis minor muscle [Term] id: HP:0005257 name: Thoracic hypoplasia namespace: medical_genetics xref: UMLS:C1842694 is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0005258 name: Pectoral muscle hypoplasia/aplasia namespace: medical_genetics xref: UMLS:C0030747 xref: UMLS:C0240414 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1521735 is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature [Term] id: HP:0005259 name: Abnormal facility in opposing the shoulders namespace: medical_genetics xref: UMLS:C0037004 xref: UMLS:C0205161 xref: UMLS:C0231519 xref: UMLS:C0680238 xref: UMLS:C1253942 xref: UMLS:C1547538 xref: UMLS:C2347472 is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0005261 name: Joint hemorrhage namespace: medical_genetics def: "`Hemorrhage` (MPATH:119) occurring within a `joint` (FMA:7490)." [HPO:gcarletti] synonym: "Joint haemorrhage" EXACT [] xref: UMLS:C0019080 xref: UMLS:C0022417 xref: UMLS:C0392905 xref: UMLS:C1269611 xref: UMLS:C1706309 is_a: HP:0001367 ! Abnormality of the joints is_a: HP:0011029 ! Internal hemorrhage created_by: peter creation_date: 2008-03-26T04:27:00Z [Term] id: HP:0005262 name: Abnormality of the synovia namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0039097 xref: UMLS:C1704258 is_a: HP:0001367 ! Abnormality of the joints created_by: peter creation_date: 2008-03-26T04:27:00Z [Term] id: HP:0005263 name: Gastritis namespace: medical_genetics def: "The presence of `inflammation` (MPATH:212) of the `gastric mucous membrane` (FMA:14907)." [HPO:probinson] xref: UMLS:C0017152 is_a: HP:0004295 ! Abnormality of the gastric mucosa created_by: peter creation_date: 2008-03-26T04:32:00Z [Term] id: HP:0005264 name: Abnormality of the gallbladder namespace: medical_genetics def: "An abnormality of the `gallbladder` (FMA:7202)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0016976 xref: UMLS:C1269001 xref: UMLS:C1704258 is_a: HP:0004297 ! Abnormality of the biliary system created_by: peter creation_date: 2008-03-26T04:40:00Z [Term] id: HP:0005265 name: Abnormality of the jejunum namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0022378 xref: UMLS:C1278922 xref: UMLS:C1704258 is_a: HP:0002244 ! Abnormality of the small intestine created_by: peter creation_date: 2008-03-26T04:44:00Z [Term] id: HP:0005266 name: Intestinal polyps namespace: medical_genetics xref: UMLS:C0021846 is_a: HP:0002242 ! Abnormality of the intestine created_by: peter creation_date: 2008-03-26T04:46:00Z [Term] id: HP:0005267 name: Premature delivery because of cervical insufficiency or membrane fragility namespace: medical_genetics xref: UMLS:C0025255 xref: UMLS:C0151526 xref: UMLS:C0205064 xref: UMLS:C0231179 xref: UMLS:C0302113 xref: UMLS:C0438076 xref: UMLS:C0596901 xref: UMLS:C1706182 is_a: HP:0001622 ! Premature birth [Term] id: HP:0005268 name: Increased risk of spontaneous abortion namespace: medical_genetics xref: UMLS:C0000786 xref: UMLS:C0035647 xref: UMLS:C0205217 xref: UMLS:C0442805 is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0005269 name: Broad, square nasal tip namespace: medical_genetics xref: UMLS:C0205120 xref: UMLS:C0332464 xref: UMLS:C0426429 xref: UMLS:C0426434 is_a: HP:0000455 ! Broad nasal tip [Term] id: HP:0005270 name: Small triangular nose namespace: medical_genetics xref: UMLS:C1845060 is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0005271 name: Disproportionately large nose namespace: medical_genetics xref: UMLS:C1868548 is_a: HP:0000461 ! Large nose [Term] id: HP:0005272 name: Prominent nasolabial folds namespace: medical_genetics 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] comment: Increasing prominence of the nasolabial folds with age is usual. synonym: "Nasolabial crease, prominent" EXACT [] xref: UMLS:C1866487 is_a: HP:0005289 ! Abnormality of the nasolabial region [Term] id: HP:0005273 name: Absent nasal septal cartilage namespace: medical_genetics synonym: "Absent nasal septum" EXACT [] xref: UMLS:C0027432 xref: UMLS:C0225420 xref: UMLS:C0332197 xref: UMLS:C1268974 xref: UMLS:C2077309 is_a: HP:0009935 ! Aplasia/Hypoplasia of the nasal septum [Term] id: HP:0005274 name: Prominent nasal tip namespace: medical_genetics xref: UMLS:C1856118 is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0005275 name: Cartilaginous ossification of nose namespace: medical_genetics xref: UMLS:C0028429 xref: UMLS:C0231561 xref: UMLS:C1278896 is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0005277 name: Depressed nasal tip due to major alar cartilage hypoplasia namespace: medical_genetics xref: UMLS:C0225416 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1859717 is_a: HP:0000430 ! Hypoplastic nasal alae is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0005278 name: Hypoplastic nasal tip namespace: medical_genetics xref: UMLS:C1844731 is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0005279 name: Flattened nasal tip namespace: medical_genetics xref: UMLS:C1866967 is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0005280 name: Depressed nasal bridge namespace: medical_genetics synonym: "Depressed nasal root" EXACT [] xref: UMLS:C0399080 xref: UMLS:C0456378 xref: UMLS:C1861931 xref: UMLS:C1999246 is_a: HP:0000425 ! Flattened nasal bridge [Term] id: HP:0005281 name: Hypoplastic nasal bridge namespace: medical_genetics xref: UMLS:C1865597 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005282 name: Broad notched nasal tip namespace: medical_genetics xref: UMLS:C1850965 is_a: HP:0000455 ! Broad nasal tip [Term] id: HP:0005283 name: Thin, long, pointed nose namespace: medical_genetics xref: UMLS:C0205166 xref: UMLS:C0205168 xref: UMLS:C1706317 xref: UMLS:C1855434 is_a: HP:0000450 ! Small, pointed nose [Term] id: HP:0005284 name: Broad, flat nasal root namespace: medical_genetics alt_id: HP:0000459 synonym: "Flat, broad nasal root" EXACT [] xref: UMLS:C0205324 xref: UMLS:C0457933 xref: UMLS:C1866488 is_a: HP:0000424 ! Broad nasal root [Term] id: HP:0005285 name: Absent nasal bridge namespace: medical_genetics xref: UMLS:C1837888 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005286 name: Hypoplastic, notched nares namespace: medical_genetics comment: This bundled term will be made obsolete in future versions of the HPO and should not be used for new annotations. See notched nasal alae and hypoplastic nasal alae. xref: UMLS:C0205316 xref: UMLS:C0543481 xref: UMLS:C0595944 xref: UMLS:C1456808 is_a: HP:0100597 ! Aplasia/Hypoplasia of the nares [Term] id: HP:0005287 name: Elevated nasal bridge namespace: medical_genetics def: "Elevation of the upper, bony part of the nose." [HPO:curators] xref: UMLS:C1854113 is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005288 name: Abnormality of the nares namespace: medical_genetics def: "Abnormality of the `nostril` (FMA:59645)." [HPO:curators] synonym: "Abnormality of the nostrils" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0595944 xref: UMLS:C1456808 xref: UMLS:C1704258 is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2008-03-26T06:04:00Z [Term] id: HP:0005289 name: Abnormality of the nasolabial region namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0017446 xref: UMLS:C0205147 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0007276 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1305387 is_a: HP:0005344 ! Abnormality of the carotid arteries [Term] id: HP:0005291 name: Inflammatory arteriopathy namespace: medical_genetics xref: UMLS:C0333348 xref: UMLS:C0852949 is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005292 name: Intimal thickening in the coronary arteries namespace: medical_genetics xref: UMLS:C0162864 xref: UMLS:C0205042 xref: UMLS:C0205400 xref: UMLS:C1256463 is_a: HP:0006704 ! Abnormality of the coronary arteries [Term] id: HP:0005293 name: Frequent venous insufficiency namespace: medical_genetics xref: UMLS:C0042485 xref: UMLS:C0332183 is_a: HP:0002624 ! Venous abnormalities [Term] id: HP:0005294 name: Arterial dissection namespace: medical_genetics xref: UMLS:C0002949 is_a: HP:0002620 ! Systemic artery abnormality [Term] id: HP:0005295 name: Pseudocoarctation of the aorta namespace: medical_genetics xref: UMLS:C0003483 xref: UMLS:C0851256 xref: UMLS:C1278934 is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0005296 name: Occlusive vascular disease namespace: medical_genetics xref: UMLS:C0042373 xref: UMLS:C1947917 is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005297 name: Premature occlusive vascular disease namespace: medical_genetics xref: UMLS:C1867457 is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005298 name: Aorta arises from right ventricle namespace: medical_genetics xref: UMLS:C0003483 xref: UMLS:C0225883 xref: UMLS:C1269891 xref: UMLS:C1278934 is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0005299 name: Premature peripheral vascular disease namespace: medical_genetics xref: UMLS:C0085096 xref: UMLS:C0205252 is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005300 name: Nodular inflammatory vasculitis namespace: medical_genetics xref: UMLS:C0028258 xref: UMLS:C0333348 is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005301 name: Persistent left superior vena cava namespace: medical_genetics xref: UMLS:C0265931 is_a: HP:0005345 ! Abnormality of the vena cava [Term] id: HP:0005302 name: Elongated, tortuous carotid arteries namespace: medical_genetics xref: UMLS:C1303076 is_a: HP:0005116 ! Arterial tortuosity is_a: HP:0005344 ! Abnormality of the carotid arteries [Term] id: HP:0005303 name: Aortic arch calcification namespace: medical_genetics xref: UMLS:C1969291 is_a: HP:0004962 ! Thoracic aorta calcification is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0005304 name: Hypoplastic pulmonary veins namespace: medical_genetics xref: UMLS:C1970501 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005305 name: Cerebral venous thrombosis namespace: medical_genetics synonym: "Cerebral thrombosis" EXACT [] synonym: "Cerebral vein thrombosis" EXACT [] xref: UMLS:C0079102 xref: UMLS:C0151945 xref: UMLS:C0795687 is_a: HP:0004936 ! Venous thrombosis [Term] id: HP:0005306 name: Capillary hemangiomas namespace: medical_genetics def: "The presence of a capillary hemangiomas, which are hemangiomas with small endothelial spaces." [HPO:curators] synonym: "Capillary hemangioma" EXACT [] xref: UMLS:C0085666 xref: UMLS:C0206733 is_a: HP:0001028 ! Hemangiomas [Term] id: HP:0005307 name: Postural hypotension with compensatory tachycardia namespace: medical_genetics xref: UMLS:C0020651 xref: UMLS:C0039231 xref: UMLS:C0231186 xref: UMLS:C0558452 xref: UMLS:C2029900 is_a: HP:0001278 ! Orthostatic hypotension [Term] id: HP:0005308 name: Pulmonary artery vasoconstriction namespace: medical_genetics xref: UMLS:C1867424 is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0005309 name: Peripheral vascular insufficiency namespace: medical_genetics xref: UMLS:C0205100 xref: UMLS:C0232352 is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005310 name: Small and large vessel vasculitis namespace: medical_genetics xref: UMLS:C0042384 xref: UMLS:C0225990 xref: UMLS:C0700321 xref: UMLS:C1963274 is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005311 name: Agenesis of pulmonary vessels namespace: medical_genetics xref: UMLS:C0000846 xref: UMLS:C0332907 xref: UMLS:C1508661 xref: UMLS:C2119045 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005312 name: Arteries show intimal fibrosis namespace: medical_genetics xref: UMLS:C0003842 xref: UMLS:C0016059 xref: UMLS:C0162864 xref: UMLS:C1256463 xref: UMLS:C1547282 is_a: HP:0002620 ! Systemic artery abnormality [Term] id: HP:0005313 name: Arterial fibromuscular dysplasia namespace: medical_genetics xref: UMLS:C0016052 is_a: HP:0002620 ! Systemic artery abnormality [Term] id: HP:0005314 name: Anomalous branches of internal carotid artery namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0007276 xref: UMLS:C1253959 xref: UMLS:C1305387 xref: UMLS:C1704257 xref: UMLS:C1704258 xref: UMLS:C1881507 is_a: HP:0005344 ! Abnormality of the carotid arteries [Term] id: HP:0005315 name: Occlusive arterial disease namespace: medical_genetics xref: UMLS:C0852949 xref: UMLS:C1947917 is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005316 name: Peripheral pulmonary vessel aplasia namespace: medical_genetics xref: UMLS:C1848877 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005317 name: Increased pulmonary vascular resistance namespace: medical_genetics xref: UMLS:C1867423 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005318 name: Cerebral vasculitis namespace: medical_genetics xref: UMLS:C0238051 is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005320 name: Lack of facial subcutaneous fat namespace: medical_genetics xref: UMLS:C0015450 xref: UMLS:C0222331 xref: UMLS:C0332268 xref: UMLS:C0524465 is_a: HP:0003717 ! Minimal subcutaneous fat [Term] id: HP:0005321 name: Mandibulofacial dysostosis namespace: medical_genetics xref: UMLS:C0242387 is_a: HP:0004439 ! Craniofacial dysostosis [Term] id: HP:0005322 name: Prominent nasal septum namespace: medical_genetics xref: UMLS:C0027432 xref: UMLS:C0205402 xref: UMLS:C1268974 xref: UMLS:C2077309 is_a: HP:0000419 ! Abnormality of the nasal septum [Term] id: HP:0005323 name: Hemifacial hypertrophy namespace: medical_genetics xref: UMLS:C0020564 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0005324 name: Derangements of facial expression namespace: medical_genetics xref: UMLS:C0015457 is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0005325 name: Unusual hairline with hair growth on temples extending to lateral eyebrow namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0205093 xref: UMLS:C0232407 xref: UMLS:C0439792 xref: UMLS:C0935456 xref: UMLS:C1280733 xref: UMLS:C1857461 is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0005326 name: Hypoplastic philtrum namespace: medical_genetics xref: UMLS:C1856886 is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0005327 name: Loss of facial expression namespace: medical_genetics xref: UMLS:C0015457 xref: UMLS:C1517945 is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0005328 name: Progeroid facial appearance namespace: medical_genetics alt_id: HP:0005333 synonym: "Aged facial appearance" EXACT [] synonym: "Prematurely aged facial appearance" EXACT [] xref: UMLS:C0001779 xref: UMLS:C0001792 xref: UMLS:C0205252 xref: UMLS:C0282631 is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0005329 name: Fixed facial expression namespace: medical_genetics xref: UMLS:C1855353 is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0005330 name: Small pointed chin namespace: medical_genetics xref: UMLS:C1844505 is_a: HP:0000307 ! Pointed chin is_a: HP:0000331 ! Small chin [Term] id: HP:0005331 name: Long, hypoplastic philtrum namespace: medical_genetics xref: UMLS:C0205166 xref: UMLS:C0543481 xref: UMLS:C1706317 xref: UMLS:C1856886 xref: UMLS:C1865014 is_a: HP:0000343 ! Long philtrum is_a: HP:0005326 ! Hypoplastic philtrum [Term] id: HP:0005332 name: Recurrent mandibular subluxations namespace: medical_genetics def: "Recurrent partial dislocations of the mandible." [HPO:curators] xref: UMLS:C1857011 is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0005334 name: Facial paresis, usually bilateral namespace: medical_genetics xref: UMLS:C0238767 xref: UMLS:C0427055 is_a: HP:0010628 ! Facial nerve palsy [Term] id: HP:0005335 name: Sleepy facial expression namespace: medical_genetics xref: UMLS:C0015457 xref: UMLS:C0234450 is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0005336 name: Forehead hyperpigmentation namespace: medical_genetics xref: UMLS:C1969673 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0005337 name: Shallow orbital ridges namespace: medical_genetics alt_id: HP:0004667 alt_id: HP:0004672 synonym: "Depressed supraorbital ridge" EXACT [] synonym: "Flat supraorbital ridge" EXACT [] synonym: "Hypoplastic supraorbital ridge" EXACT [] synonym: "Hypoplastic supraorbital ridges" EXACT [] synonym: "Shallow supraorbital ridge" EXACT [] xref: UMLS:C1850334 xref: UMLS:C1854110 xref: UMLS:C1854406 xref: UMLS:C1856265 xref: UMLS:C1857205 xref: UMLS:C1861869 is_a: HP:0100538 ! Abnormality of the supraorbital ridges [Term] id: HP:0005338 name: Sparse lateral eyebrows namespace: medical_genetics alt_id: HP:0004521 synonym: "Laterally sparse eyebrow" EXACT [] xref: UMLS:C1857206 xref: UMLS:C1860829 is_a: HP:0000535 ! Sparse eyebrows [Term] id: HP:0005339 name: Abnormality of complement system namespace: medical_genetics 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. xref: UMLS:C0000768 xref: UMLS:C0009498 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0443306 xref: UMLS:C0878773 is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0005341 name: Abnormal bladder regulation due to autonomic dysfunction namespace: medical_genetics xref: UMLS:C0005682 xref: UMLS:C0205161 xref: UMLS:C0741307 xref: UMLS:C0851285 xref: UMLS:C1281573 xref: UMLS:C1327622 xref: UMLS:C2347472 is_a: HP:0002387 ! Autonomic dysfunction [Term] id: HP:0005342 name: Bladder hypoplasia with no external orifice namespace: medical_genetics xref: UMLS:C0005682 xref: UMLS:C0205101 xref: UMLS:C0243069 xref: UMLS:C0444567 xref: UMLS:C0543481 xref: UMLS:C1281573 is_a: HP:0005343 ! Hypoplasia of the bladder [Term] id: HP:0005343 name: Hypoplasia of the bladder namespace: medical_genetics def: "Underdevelopment of the `urinary bladder` (FMA:15900)." [HPO:probinson] synonym: "Hypoplastic bladder" EXACT [] xref: UMLS:C1855335 is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder [Term] id: HP:0005344 name: Abnormality of the carotid arteries namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0007272 xref: UMLS:C1704258 is_a: HP:0002620 ! Systemic artery abnormality created_by: peter creation_date: 2008-03-26T06:37:00Z [Term] id: HP:0005345 name: Abnormality of the vena cava namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0042460 xref: UMLS:C1280190 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0015457 xref: UMLS:C0205161 xref: UMLS:C2347472 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 namespace: medical_genetics xref: UMLS:C1863363 is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0005348 name: Inspiratory stridor namespace: medical_genetics def: "Inspiratory stridor is a high pitched sound upon inspiration that is generally related to laryngeal abnormalities." [HPO:curators] xref: UMLS:C0677600 is_a: HP:0010307 ! Stridor [Term] id: HP:0005349 name: Hypoplasia of the epiglottis namespace: medical_genetics def: "Hypoplasia of the `epiglottis` (FMA:55130)." [HPO:probinson] synonym: "Hypoplastic epiglottis" EXACT [] xref: UMLS:C0014540 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1280360 xref: UMLS:C1850262 xref: UMLS:C2228436 is_a: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis [Term] id: HP:0005350 name: Increased frequency of bacterial, viral, and fungal infections namespace: medical_genetics xref: UMLS:C0026946 xref: UMLS:C0205217 xref: UMLS:C0376249 xref: UMLS:C0439603 xref: UMLS:C0442805 xref: UMLS:C0521009 xref: UMLS:C0521026 xref: UMLS:C1561548 xref: UMLS:C1705502 is_a: HP:0002718 ! Recurrent bacterial infections is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005352 name: Severe t-cell immunodeficiency namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C1274233 xref: UMLS:C1519275 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005353 name: Susceptibility to herpesvirus namespace: medical_genetics xref: UMLS:C0012655 xref: UMLS:C0019369 xref: UMLS:C0206558 xref: UMLS:C0220898 xref: UMLS:C1264642 xref: UMLS:C1547045 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005354 name: Absent cellular immunity namespace: medical_genetics xref: UMLS:C1849426 is_a: HP:0002843 ! Abnormality of T cells [Term] id: HP:0005355 name: Frequent pyogenic infections namespace: medical_genetics xref: UMLS:C1843388 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005356 name: Decreased serum complement factor I namespace: medical_genetics xref: UMLS:C1970257 is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005357 name: Defective B cell differentiation namespace: medical_genetics xref: UMLS:C1859624 is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0005359 name: Aplasia of the thymus namespace: medical_genetics def: "Absence of the `thymus` (FMA:9607)." [HPO:probinson] xref: UMLS:C0040112 xref: UMLS:C0040113 xref: UMLS:C0332197 xref: UMLS:C0334045 xref: UMLS:C0700321 xref: UMLS:C1015036 is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus [Term] id: HP:0005360 name: Susceptibility to chickenpox namespace: medical_genetics xref: UMLS:C0008049 xref: UMLS:C0012655 xref: UMLS:C0220898 xref: UMLS:C1264642 xref: UMLS:C1547045 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005361 name: Prone to bacterial infection, but not viral namespace: medical_genetics xref: UMLS:C0004623 xref: UMLS:C0033422 xref: UMLS:C0521026 xref: UMLS:C1518422 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005362 name: Variable immunodeficiency namespace: medical_genetics xref: UMLS:C0021051 xref: UMLS:C0439828 xref: UMLS:C1705098 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005363 name: Partial humoral immunodeficiency namespace: medical_genetics xref: UMLS:C0020168 xref: UMLS:C0021051 xref: UMLS:C0597811 xref: UMLS:C0728938 xref: UMLS:C1550516 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005364 name: Severe viral infections, namespace: medical_genetics xref: UMLS:C0042769 xref: UMLS:C0205082 xref: UMLS:C1519275 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005365 name: Absent peripheral blood B cells namespace: medical_genetics def: "An absence of B cells` (CL:0000236) in the peripheral blood circulation." [HPO:probinson] xref: UMLS:C1832326 is_a: HP:0010976 ! Reduction in B cell number [Term] id: HP:0005366 name: Increased susceptibility to streptococcus pneumoniae infections namespace: medical_genetics xref: UMLS:C0012655 xref: UMLS:C0032269 xref: UMLS:C0205217 xref: UMLS:C0220898 xref: UMLS:C0442805 xref: UMLS:C1264642 xref: UMLS:C1547045 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0005367 name: Susceptibility to pyogenic infection namespace: medical_genetics xref: UMLS:C0012655 xref: UMLS:C0021311 xref: UMLS:C0220898 xref: UMLS:C1264642 xref: UMLS:C1547045 xref: UMLS:C2364133 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005368 name: Abnormality of humoral immunity namespace: medical_genetics 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 [] xref: UMLS:C0020967 xref: UMLS:C0332452 is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0005369 name: Decreased serum complement factor H namespace: medical_genetics xref: UMLS:C1969222 is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005371 name: Moderately severe immunodeficiency namespace: medical_genetics xref: UMLS:C0021051 xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1881878 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005372 name: Abnormality of B cell physiology namespace: medical_genetics alt_id: HP:0005398 def: "An abnormality of the physiological functioning of `B cells` (CL:0000236)." [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:C1834099 xref: UMLS:C1849242 is_a: HP:0002846 ! Abnormality of B cells [Term] id: HP:0005373 name: Immune defect due to a T cell deficit namespace: medical_genetics xref: UMLS:C0301889 xref: UMLS:C1861148 is_a: HP:0002843 ! Abnormality of T cells [Term] id: HP:0005374 name: Cellular immunodeficiency namespace: medical_genetics xref: UMLS:C1855204 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005375 name: Partial cellular immunodeficiency namespace: medical_genetics xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1855204 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005376 name: Increased susceptibility to haemophilus influenzae infections namespace: medical_genetics xref: UMLS:C0012655 xref: UMLS:C0205217 xref: UMLS:C0220898 xref: UMLS:C0348321 xref: UMLS:C0442805 xref: UMLS:C1264642 xref: UMLS:C1547045 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005378 name: Episodes of neisserial infection namespace: medical_genetics xref: UMLS:C0332189 xref: UMLS:C0851883 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005379 name: Absent peripheral blood T cells namespace: medical_genetics xref: UMLS:C1832327 is_a: HP:0005403 ! Reduced number of T cells [Term] id: HP:0005380 name: Frequent bacterial, fungal and viral infections namespace: medical_genetics xref: UMLS:C0016832 xref: UMLS:C0042769 xref: UMLS:C0332183 xref: UMLS:C0521009 xref: UMLS:C0521033 is_a: HP:0002718 ! Recurrent bacterial infections is_a: HP:0002841 ! Fungal infections, recurrent is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005381 name: Recurrent meningococcal disease namespace: medical_genetics 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 [] xref: UMLS:C0012655 xref: UMLS:C0025303 xref: UMLS:C0034897 xref: UMLS:C0127526 xref: UMLS:C0205217 xref: UMLS:C0220898 xref: UMLS:C0277556 xref: UMLS:C0442805 xref: UMLS:C0521018 xref: UMLS:C1264642 xref: UMLS:C1547045 is_a: HP:0005430 ! Recurrent neisserial infections [Term] id: HP:0005384 name: Defective B cell activation namespace: medical_genetics xref: UMLS:C1846551 is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0005385 name: Severe IgM deficiency namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0162429 xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1623416 is_a: HP:0002850 ! Decreased IgM [Term] id: HP:0005386 name: Frequent bacterial, viral, protozoan, and fungal infections namespace: medical_genetics xref: UMLS:C0026946 xref: UMLS:C0033739 xref: UMLS:C0332183 xref: UMLS:C0521009 xref: UMLS:C0521026 is_a: HP:0005380 ! Frequent bacterial, fungal and viral infections [Term] id: HP:0005387 name: Combined immunodeficiency namespace: medical_genetics xref: UMLS:C0494261 is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005388 name: Recurrent bacterial, viral, and fungal infections namespace: medical_genetics xref: UMLS:C0026946 xref: UMLS:C0034897 xref: UMLS:C0521009 xref: UMLS:C0521026 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005389 name: Depletion of components of the alternative complement pathway namespace: medical_genetics xref: UMLS:C0009546 xref: UMLS:C0333668 xref: UMLS:C0449432 xref: UMLS:C1179435 xref: UMLS:C1705248 is_a: HP:0005482 ! Abnormality of the alternate complement pathway [Term] id: HP:0005390 name: Frequent bacterial, viral, and opportunistic infections namespace: medical_genetics xref: UMLS:C0029118 xref: UMLS:C0332183 xref: UMLS:C0521009 xref: UMLS:C0521026 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005391 name: Increased susceptibility to certain bacterial infections namespace: medical_genetics synonym: "Increased susceptibility to certain bacterial infections, especially neisseria meningitidis" EXACT [] xref: UMLS:C0004623 xref: UMLS:C0012655 xref: UMLS:C0027575 xref: UMLS:C0205217 xref: UMLS:C0205423 xref: UMLS:C0205555 xref: UMLS:C0220898 xref: UMLS:C0439543 xref: UMLS:C0442805 xref: UMLS:C1264642 xref: UMLS:C1547045 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005392 name: Chronic candidiasis of mucosa, skin and nails namespace: medical_genetics xref: UMLS:C0026724 xref: UMLS:C0027342 xref: UMLS:C0444099 xref: UMLS:C0857069 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C1561514 is_a: HP:0002728 ! Chronic mucocutaneous candidiasis [Term] id: HP:0005393 name: Recurrent major bacterial infections namespace: medical_genetics xref: UMLS:C1845989 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005395 name: Recurrent local and systemic infections, esp gram-negative namespace: medical_genetics xref: UMLS:C0015373 xref: UMLS:C0034897 xref: UMLS:C0037747 xref: UMLS:C0205160 xref: UMLS:C0205276 xref: UMLS:C0243026 xref: UMLS:C0439208 xref: UMLS:C1421982 xref: UMLS:C1513916 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005396 name: Susceptibility to coronavirus 229e namespace: medical_genetics xref: UMLS:C0012655 xref: UMLS:C0206419 xref: UMLS:C0220898 xref: UMLS:C1264642 xref: UMLS:C1547045 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005397 name: Exaggerated cellular immune processes namespace: medical_genetics xref: UMLS:C1867036 is_a: HP:0002843 ! Abnormality of T cells [Term] id: HP:0005400 name: Reduction of neutrophil motility namespace: medical_genetics def: "An abnormal reduction of the cell motility of `neutrophils` (CL:0000775)." [HPO:probinson] xref: UMLS:C1849461 is_a: HP:0001874 ! Abnormality of neutrophil [Term] id: HP:0005401 name: Frequent candida infections namespace: medical_genetics xref: UMLS:C1860128 is_a: HP:0002841 ! Fungal infections, recurrent [Term] id: HP:0005402 name: Primary T-lymphocyte immune abnormalities namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0039194 xref: UMLS:C0205225 xref: UMLS:C0439631 xref: UMLS:C0439662 is_a: HP:0002843 ! Abnormality of T cells [Term] id: HP:0005403 name: Reduced number of T cells namespace: medical_genetics xref: UMLS:C0039194 xref: UMLS:C0237753 xref: UMLS:C0392756 xref: UMLS:C0449788 is_a: HP:0002843 ! Abnormality of T cells [Term] id: HP:0005404 name: Increase in B cell number namespace: medical_genetics def: "An abnormal increase from the normal count of `B cells` (CL:0000236)." [HPO:probinson] synonym: "Increased number of B cells" EXACT [] xref: UMLS:C0004561 xref: UMLS:C0205217 xref: UMLS:C0237753 xref: UMLS:C0442805 xref: UMLS:C0449788 is_a: HP:0010975 ! Abnormality of B cell number [Term] id: HP:0005406 name: Recurrent bacterial skin infections namespace: medical_genetics synonym: "Recurrent pyogenic skin infections" EXACT [] xref: UMLS:C1835686 xref: UMLS:C1855634 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005407 name: Decreased number of CD4+ T cells namespace: medical_genetics xref: UMLS:C0039194 xref: UMLS:C0205216 xref: UMLS:C0237753 xref: UMLS:C0392756 xref: UMLS:C0449788 is_a: HP:0005480 ! Abnormality of CD4+ T cells [Term] id: HP:0005409 name: Markedly reduced T cell function namespace: medical_genetics xref: UMLS:C1834098 is_a: HP:0005435 ! Impaired T cell function [Term] id: HP:0005410 name: Susceptibility to bacterial and viral infections namespace: medical_genetics xref: UMLS:C0012655 xref: UMLS:C0042769 xref: UMLS:C0220898 xref: UMLS:C0521009 xref: UMLS:C1264642 xref: UMLS:C1547045 is_a: HP:0002718 ! Recurrent bacterial infections is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005411 name: Chronic intestinal candidiasis namespace: medical_genetics xref: UMLS:C0021853 xref: UMLS:C0205191 xref: UMLS:C0857069 xref: UMLS:C1547296 xref: UMLS:C1555457 xref: UMLS:C2004109 is_a: HP:0002728 ! Chronic mucocutaneous candidiasis [Term] id: HP:0005412 name: Decreased numbers of circulating T cells namespace: medical_genetics xref: UMLS:C0039194 xref: UMLS:C0175630 xref: UMLS:C0205216 xref: UMLS:C0237753 xref: UMLS:C0392756 is_a: HP:0005403 ! Reduced number of T cells [Term] id: HP:0005413 name: Increased alpha-globulin namespace: medical_genetics xref: UMLS:C1167806 is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0005415 name: Decreased number of CD8+ T cells namespace: medical_genetics xref: UMLS:C0039194 xref: UMLS:C0205216 xref: UMLS:C0237753 xref: UMLS:C0392756 xref: UMLS:C0449788 is_a: HP:0005481 ! Abnormality of CD8+ T cells [Term] id: HP:0005416 name: Decreased serum complement factor B namespace: medical_genetics synonym: "Decreased serum factor b" EXACT [] xref: UMLS:C0033453 xref: UMLS:C0205216 xref: UMLS:C0229671 xref: UMLS:C0392756 xref: UMLS:C1550100 xref: UMLS:C1824728 xref: UMLS:C2021171 is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005419 name: Decreased T cell activation namespace: medical_genetics alt_id: HP:0005370 alt_id: HP:0005436 synonym: "Defective T cell activation" EXACT [] synonym: "Profound depletion of T4+ lymphocytes" EXACT [] xref: UMLS:C0039215 xref: UMLS:C0333668 xref: UMLS:C0439808 xref: UMLS:C1846550 xref: UMLS:C1970801 is_a: HP:0005407 ! Decreased number of CD4+ T cells [Term] id: HP:0005420 name: Recurrent staphylococcal and gram-negative infections namespace: medical_genetics xref: UMLS:C0021311 xref: UMLS:C0034897 xref: UMLS:C0038170 xref: UMLS:C0205160 xref: UMLS:C0439208 xref: UMLS:C1513916 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005421 name: Decreased serum complement C3 namespace: medical_genetics alt_id: HP:0005408 synonym: "Decreased serum C3" EXACT [] xref: UMLS:C0009498 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C1837512 xref: UMLS:C2229619 is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005422 name: Isolated absence of CD8+ T cells namespace: medical_genetics xref: UMLS:C0039194 xref: UMLS:C0205409 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0005481 ! Abnormality of CD8+ T cells [Term] id: HP:0005423 name: Dysfunctional alternative complement pathway namespace: medical_genetics xref: UMLS:C1839458 is_a: HP:0005482 ! Abnormality of the alternate complement pathway [Term] id: HP:0005424 name: Absent specific antibody response namespace: medical_genetics xref: UMLS:C1863246 is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0005425 name: Recurrent sinopulmonary infections namespace: medical_genetics synonym: "Chronic sinopulmonary infection" EXACT [] xref: UMLS:C0151317 xref: UMLS:C1846546 is_a: HP:0002873 ! Recurrent upper and lower respiratory tract infections [Term] id: HP:0005426 name: Frequent opportunistic infections namespace: medical_genetics xref: UMLS:C1832324 is_a: HP:0002964 ! Susceptibility to infection [Term] id: HP:0005427 name: Lack of delayed skin hypersensitivity reaction namespace: medical_genetics synonym: "Absence of delayed hypersensitivity skin test" EXACT [] xref: UMLS:C0020517 xref: UMLS:C0020522 xref: UMLS:C0332268 xref: UMLS:C0430572 xref: UMLS:C0444099 xref: UMLS:C0520946 xref: UMLS:C1123023 xref: UMLS:C1142196 xref: UMLS:C1278993 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0005428 name: Severe recurrent varicella namespace: medical_genetics xref: UMLS:C1833487 is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005429 name: Recurrent cutaneous and systemic pyogenic infections namespace: medical_genetics xref: UMLS:C0034897 xref: UMLS:C0221912 xref: UMLS:C0243026 xref: UMLS:C1522447 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005430 name: Recurrent neisserial infections namespace: medical_genetics alt_id: HP:0005377 def: "Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis)." [HPO:curators] synonym: "Recurrent neisseria infections" EXACT [] xref: UMLS:C2169792 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005432 name: Newborn gammaglobulin deficiency namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0021289 xref: UMLS:C0162429 xref: UMLS:C1623416 xref: UMLS:C2239178 is_a: HP:0004315 ! Decreased IgG level [Term] id: HP:0005434 name: Decreased reactivity to skin test antigens namespace: medical_genetics xref: UMLS:C0003320 xref: UMLS:C0037296 xref: UMLS:C0205216 xref: UMLS:C0205332 xref: UMLS:C0392756 xref: UMLS:C1509164 xref: UMLS:C1705200 is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0005435 name: Impaired T cell function namespace: medical_genetics alt_id: HP:0005383 synonym: "T-cell dysfunction" EXACT [] xref: UMLS:C0031847 xref: UMLS:C0039194 xref: UMLS:C0277785 xref: UMLS:C1860127 is_a: HP:0002843 ! Abnormality of T cells [Term] id: HP:0005437 name: Recurrent infections in infancy and early childhood namespace: medical_genetics xref: UMLS:C0231330 xref: UMLS:C0239998 xref: UMLS:C0599196 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0005439 name: Maxillozygomatic hypoplasia namespace: medical_genetics def: "Hypoplasia of the maxillozygomatic complex." [HPO:probinson] xref: UMLS:C1848908 is_a: HP:0000327 ! Hypoplasia of the maxilla [Term] id: HP:0005440 name: Turridolichocephaly namespace: medical_genetics is_a: HP:0000268 ! Dolichocephaly [Term] id: HP:0005441 name: Sclerotic cranial sutures namespace: medical_genetics def: "An increased density in the cranial sutures following obliteration." [HPO:curators] xref: UMLS:C1854603 is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0005442 name: Widely patent coronal suture namespace: medical_genetics 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 is_a: HP:0000239 ! Large fontanelles [Term] id: HP:0005444 name: Enlarged, flat sella turcica namespace: medical_genetics xref: UMLS:C0036609 xref: UMLS:C0205324 xref: UMLS:C0442800 xref: UMLS:C0457933 xref: UMLS:C1280694 xref: UMLS:C1293134 is_a: HP:0002690 ! Large sella turcica [Term] id: HP:0005445 name: Widened posterior fossa namespace: medical_genetics xref: UMLS:C1855889 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0005446 name: Small mandible with obtuse angle namespace: medical_genetics xref: UMLS:C0205143 xref: UMLS:C0443269 xref: UMLS:C1866485 is_a: HP:0000347 ! Mandibular hypoplasia [Term] id: HP:0005449 name: Bridged sella turcica namespace: medical_genetics xref: UMLS:C1866959 is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005450 name: Calvarial osteosclerosis namespace: medical_genetics def: "An increase in bone density affecting the calvaria (roof of the skull)." [HPO:curators] xref: UMLS:C1855657 is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005451 name: Decreased cranial base ossification namespace: medical_genetics xref: UMLS:C1835442 is_a: HP:0004331 ! Decreased skull ossification is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0005452 name: Obliteration of frontal sinuses namespace: medical_genetics xref: UMLS:C0016734 xref: UMLS:C0332465 xref: UMLS:C1293136 is_a: HP:0002687 ! Abnormality of the frontal sinuses [Term] id: HP:0005453 name: Absent/hypoplastic paranasal sinuses namespace: medical_genetics xref: UMLS:C0332197 xref: UMLS:C1861527 is_a: HP:0002738 ! Hypoplastic frontal sinuses [Term] id: HP:0005456 name: Absent frontal and ethmoidal sinuses namespace: medical_genetics xref: UMLS:C0205123 xref: UMLS:C0332197 xref: UMLS:C2325945 is_a: HP:0002688 ! Absent frontal sinuses [Term] id: HP:0005457 name: Craniosynostosis of coronal, lambdoid, and/or metopic sutures namespace: medical_genetics xref: UMLS:C0010278 xref: UMLS:C0205123 xref: UMLS:C0224540 xref: UMLS:C1442871 is_a: HP:0004440 ! Coronal craniosynostosis [Term] id: HP:0005458 name: Obliterated fontanelles namespace: medical_genetics 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." [HPO:curators] xref: UMLS:C1864682 is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0005459 name: Severe cloverleaf skull namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1860050 is_a: HP:0002676 ! Cloverleaf skull [Term] id: HP:0005461 name: Craniofacial disproportion namespace: medical_genetics xref: UMLS:C1867114 is_a: HP:0002260 ! Craniofacial dysmorphism [Term] id: HP:0005462 name: Calcification of falx cerebri namespace: medical_genetics def: "The presence of `calcium deposition` (MPATH:36) in the `falx cerebri` (FMA:83967)." [HPO:probinson] xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C0228120 xref: UMLS:C1281046 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0005463 name: Elongated sella turcica namespace: medical_genetics xref: UMLS:C1863311 is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005464 name: Craniofacial hyperostosis and sclerosis namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C1868085 is_a: HP:0004493 ! Craniofacial hyperostosis [Term] id: HP:0005465 name: Hyperostosis of facial bones namespace: medical_genetics alt_id: HP:0008508 def: "Excessive growth (overgrowth) of the cranial bones." [HPO:curators] synonym: "Facial hyperostosis" EXACT [] xref: UMLS:C0015450 xref: UMLS:C0015455 xref: UMLS:C0020492 xref: UMLS:C0524465 is_a: HP:0004493 ! Craniofacial hyperostosis [Term] id: HP:0005466 name: Hypoplastic frontal bones namespace: medical_genetics alt_id: HP:0005493 synonym: "Frontal bone hypoplasia" EXACT [] xref: UMLS:C0016732 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1279052 xref: UMLS:C1845147 is_a: HP:0002648 ! Abnormality of skull shape is_a: HP:0002692 ! Hypoplastic facial bones [Term] id: HP:0005467 name: Occasional craniosynostosis namespace: medical_genetics xref: UMLS:C0010278 xref: UMLS:C0521114 xref: UMLS:C1442871 is_a: HP:0001363 ! Craniosynostosis [Term] id: HP:0005468 name: Foramen magnum stenosis namespace: medical_genetics def: "An abnormal narrowing of the foramen magnum." [HPO:curators] xref: UMLS:C1535953 is_a: HP:0002677 ! Small foramen magnum [Term] id: HP:0005469 name: Flat occiput namespace: medical_genetics 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. synonym: "Occipital plagiocephaly" EXACT [] synonym: "Posterior plagiocephaly" EXACT [] xref: UMLS:C0205095 xref: UMLS:C0265529 xref: UMLS:C1184145 xref: UMLS:C1837402 is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0005470 name: Ipsilateral mandibular hypoplasia namespace: medical_genetics comment: This term needs to be revised or made obsolete. Ipsilateral with what? xref: UMLS:C1840007 is_a: HP:0000347 ! Mandibular hypoplasia [Term] id: HP:0005472 name: Orbital craniosynostosis namespace: medical_genetics xref: UMLS:C0010278 xref: UMLS:C0699036 xref: UMLS:C1442871 is_a: HP:0001363 ! Craniosynostosis [Term] id: HP:0005473 name: Fusion of middle ear ossicles namespace: medical_genetics xref: UMLS:C0332466 xref: UMLS:C1293131 xref: UMLS:C2087668 is_a: HP:0004452 ! Abnormality of the middle ear ossicles is_a: HP:0100240 ! Synostosis of joints [Term] id: HP:0005474 name: Poorly ossified calvaria namespace: medical_genetics 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)." [HPO:curators] synonym: "Poorly ossified calvarium" EXACT [] synonym: "Undermineralized calvarium" EXACT [] xref: UMLS:C1848658 xref: UMLS:C1850176 is_a: HP:0002683 ! Abnormality of the calvarium is_a: HP:0004331 ! Decreased skull ossification is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0005475 name: Absent of small frontal sinus namespace: medical_genetics xref: UMLS:C0016734 xref: UMLS:C0332197 xref: UMLS:C0700321 xref: UMLS:C1278900 is_a: HP:0002688 ! Absent frontal sinuses [Term] id: HP:0005476 name: Widely patent sagittal suture namespace: medical_genetics 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 is_a: HP:0000239 ! Large fontanelles [Term] id: HP:0005477 name: Progressive sclerosis of skull base namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0149543 xref: UMLS:C0205329 is_a: HP:0002694 ! Sclerotic skull base [Term] id: HP:0005478 name: Prominent frontal sinuses namespace: medical_genetics xref: UMLS:C1969404 is_a: HP:0002687 ! Abnormality of the frontal sinuses [Term] id: HP:0005479 name: Decreased IgE namespace: medical_genetics def: "An abnormally decreased level of immunoglobulin IgE in blood." [HPO:probinson] xref: UMLS:C0205216 xref: UMLS:C0392756 is_a: HP:0004313 ! Hypogammaglobulinemia created_by: peter creation_date: 2008-03-26T08:03:00Z [Term] id: HP:0005480 name: Abnormality of CD4+ T cells namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0039194 xref: UMLS:C1704258 is_a: HP:0002843 ! Abnormality of T cells created_by: peter creation_date: 2008-03-26T08:09:00Z [Term] id: HP:0005481 name: Abnormality of CD8+ T cells namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0039194 xref: UMLS:C1704258 is_a: HP:0002843 ! Abnormality of T cells created_by: peter creation_date: 2008-03-26T08:09:00Z [Term] id: HP:0005482 name: Abnormality of the alternate complement pathway namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0009546 xref: UMLS:C1704258 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 namespace: medical_genetics def: "An abnormality of the `epiglottis` (FMA:55130)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0014540 xref: UMLS:C1280360 xref: UMLS:C1704258 xref: UMLS:C2228436 is_a: HP:0001600 ! Abnormality of the larynx created_by: peter creation_date: 2008-03-26T08:25:00Z [Term] id: HP:0005484 name: Microcephaly, postnatal namespace: medical_genetics alt_id: HP:0005499 synonym: "Postnatal microcephaly" EXACT [] xref: UMLS:C0025958 xref: UMLS:C0443281 xref: UMLS:C1862922 is_a: HP:0000252 ! Microcephaly [Term] id: HP:0005486 name: Small fontanelles namespace: medical_genetics def: "The presence of fontanelles that are smaller than age-dependent norms." [HPO:curators] xref: UMLS:C0456133 is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0005487 name: Prominent metopic suture namespace: medical_genetics alt_id: HP:0005488 def: "A prominent persistent frontal suture (metopic suture)." [HPO:curators] synonym: "Prominent metopic sutures" EXACT [] xref: UMLS:C1969876 is_a: HP:0005556 ! Abnormality of the metopic suture [Term] id: HP:0005490 name: Macrocephaly, postnatal namespace: medical_genetics def: "The postnatal development of an abnormally large skull (macrocephaly)." [HPO:curators] xref: UMLS:C0221355 xref: UMLS:C0443281 is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0005494 name: Premature posterior fontanelle closure namespace: medical_genetics xref: UMLS:C1839126 is_a: HP:0001363 ! Craniosynostosis [Term] id: HP:0005495 name: Metopic suture extends to nasal root namespace: medical_genetics xref: UMLS:C0224540 xref: UMLS:C0225412 xref: UMLS:C0231448 xref: UMLS:C0231449 xref: UMLS:C0439792 is_a: HP:0005556 ! Abnormality of the metopic suture [Term] id: HP:0005498 name: Midline skin dimples over anterior/posterior fontanelles namespace: medical_genetics xref: UMLS:C0205094 xref: UMLS:C0224553 xref: UMLS:C0549183 xref: UMLS:C0578531 xref: UMLS:C1660780 is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0005500 name: Total kininogen deficiency namespace: medical_genetics xref: UMLS:C1856719 is_a: HP:0005559 ! Abnormality of the kinin-kallikrein system [Term] id: HP:0005502 name: Increased red cell osmotic fragility namespace: medical_genetics synonym: "Increased erythrocyte osmotic fragility" EXACT [] synonym: "Increased red cell fragility," EXACT [] xref: UMLS:C0014792 xref: UMLS:C0205217 xref: UMLS:C0302113 xref: UMLS:C0302114 xref: UMLS:C0442805 xref: UMLS:C1563090 xref: UMLS:C1849478 is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0005503 name: Increased hemolysis namespace: medical_genetics xref: UMLS:C0019054 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C1548777 xref: UMLS:C1553188 xref: UMLS:C1630417 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005505 name: Refractory anemia namespace: medical_genetics xref: UMLS:C0002893 is_a: HP:0001903 ! Anemia [Term] id: HP:0005506 name: Chronic myelogenous leukemia namespace: medical_genetics xref: UMLS:C0023473 is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0005507 name: Alpha-thalassemia with microcytosis namespace: medical_genetics xref: UMLS:C0002312 xref: UMLS:C0221265 xref: UMLS:C1456873 is_a: HP:0005560 ! Thalassemia [Term] id: HP:0005508 name: Waldenstrom macroglobulinemia namespace: medical_genetics 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: UMLS:C0024419 is_a: HP:0001909 ! Leukemia is_a: HP:0010701 ! Abnormal immunoglobulin level [Term] id: HP:0005509 name: Moderate-severe anemia namespace: medical_genetics xref: UMLS:C0205081 xref: UMLS:C0238644 xref: UMLS:C1881878 is_a: HP:0001903 ! Anemia [Term] id: HP:0005510 name: Transient erythroblastopenia namespace: medical_genetics def: "A transient reduction in the number of `erythroblasts` (CL:0000765) in the circulation." [HPO:probinson] comment: An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus. xref: UMLS:C0238478 is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0005511 name: Congenital Heinz body anemia namespace: medical_genetics xref: UMLS:C0272006 is_a: HP:0001903 ! Anemia [Term] id: HP:0005512 name: Impaired neutrophil killing of staphylococci namespace: medical_genetics xref: UMLS:C0027950 xref: UMLS:C0038170 xref: UMLS:C0162388 xref: UMLS:C0221099 xref: UMLS:C0374989 xref: UMLS:C0684336 is_a: HP:0001874 ! Abnormality of neutrophil [Term] id: HP:0005513 name: Increased megakaryocyte precursor cells namespace: medical_genetics xref: UMLS:C1849757 is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0005514 name: Decreased coagulation factors IX, XI, XII namespace: medical_genetics xref: UMLS:C0015491 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C1366464 xref: UMLS:C1720296 is_a: HP:0010988 ! Abnormality of the extrinsic pathway [Term] id: HP:0005516 name: Myelodysplasia and acute myelogenous leukemia namespace: medical_genetics xref: UMLS:C0023467 xref: UMLS:C0026985 xref: UMLS:C0026986 xref: UMLS:C1963099 is_a: HP:0001909 ! Leukemia [Term] id: HP:0005517 name: T-cell lymphoma/leukemia namespace: medical_genetics xref: UMLS:C0023418 xref: UMLS:C0079772 is_a: HP:0001909 ! Leukemia [Term] id: HP:0005518 name: Erythrocyte macrocytosis namespace: medical_genetics alt_id: HP:0005536 synonym: "Increased mean corpuscular volume" EXACT [] xref: UMLS:C0014792 xref: UMLS:C0085662 xref: UMLS:C0684332 xref: UMLS:C0855791 is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0005519 name: Myeloid cell leukemia 1 namespace: medical_genetics xref: UMLS:C1366587 is_a: HP:0001909 ! Leukemia [Term] id: HP:0005520 name: Chronic disseminated intravascular coagulation namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Chronic consumption coagulopathy" EXACT [] synonym: "Compensated disseminated intravascular coagulation" EXACT [] xref: UMLS:C1862184 is_a: HP:0005521 ! Disseminated intravascular coagulation [Term] id: HP:0005521 name: Disseminated intravascular coagulation namespace: medical_genetics 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: UMLS:C0012739 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0005522 name: Anemia, pyridoxine-responsive namespace: medical_genetics xref: UMLS:C0002871 xref: UMLS:C0034272 xref: UMLS:C0205342 xref: UMLS:C1000483 is_a: HP:0001903 ! Anemia [Term] id: HP:0005523 name: Lymphoproliferative disorder namespace: medical_genetics xref: UMLS:C0024314 is_a: HP:0001909 ! Leukemia [Term] id: HP:0005524 name: Macrocytic hemolytic disease namespace: medical_genetics xref: UMLS:C0302845 xref: UMLS:C1263988 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005525 name: Spontaneous hemolytic crises namespace: medical_genetics xref: UMLS:C0205359 xref: UMLS:C0302110 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005526 name: Lymphoid leukemia namespace: medical_genetics xref: UMLS:C0023448 is_a: HP:0001909 ! Leukemia [Term] id: HP:0005527 name: Kininogen deficiency namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0086509 xref: UMLS:C0162429 xref: UMLS:C1623416 is_a: HP:0005559 ! Abnormality of the kinin-kallikrein system [Term] id: HP:0005528 name: Bone marrow hypoplasia namespace: medical_genetics alt_id: HP:0005529 synonym: "Hypoplastic bone marrow" EXACT [] xref: UMLS:C0151773 xref: UMLS:C1855710 is_a: HP:0005561 ! Generalized abnormality of the bone marrow [Term] id: HP:0005530 name: High molecular weight kininogen deficiency namespace: medical_genetics alt_id: HP:0005538 synonym: "Fitzgerald factor deficiency" EXACT [] xref: UMLS:C0272340 xref: UMLS:C1537501 is_a: HP:0005559 ! Abnormality of the kinin-kallikrein system [Term] id: HP:0005531 name: Myeloid/lymphoid leukemia namespace: medical_genetics xref: UMLS:C0023448 xref: UMLS:C0439677 is_a: HP:0001909 ! Leukemia [Term] id: HP:0005532 name: Macrocytic dyserythropoietic anemia namespace: medical_genetics xref: UMLS:C0302845 xref: UMLS:C0678199 is_a: HP:0001903 ! Anemia [Term] id: HP:0005534 name: Transient myeloproliferative syndrome namespace: medical_genetics xref: UMLS:C1834582 is_a: HP:0001909 ! Leukemia [Term] id: HP:0005535 name: Exercise-induced hemolysis namespace: medical_genetics def: "A form of `hemolytic anemia` (HP:0001878) that can be triggered by exertion." [HPO:probinson] xref: UMLS:C0019054 xref: UMLS:C0239313 xref: UMLS:C1548777 xref: UMLS:C1553188 xref: UMLS:C1630417 is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005537 name: Decreased mean platelet volume namespace: medical_genetics alt_id: HP:0001938 synonym: "Small platelet size" EXACT [] synonym: "Small platelets" EXACT [] synonym: "Small platelets size" EXACT [] xref: UMLS:C0200665 xref: UMLS:C0205216 xref: UMLS:C0344388 xref: UMLS:C0392756 xref: UMLS:C1148413 xref: UMLS:C1833182 is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0005539 name: T-cell chronic lymphocytic lymphoma/leukemia namespace: medical_genetics xref: UMLS:C0023418 xref: UMLS:C0024264 xref: UMLS:C0079772 xref: UMLS:C0205191 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0001909 ! Leukemia [Term] id: HP:0005540 name: Red blood cell keratocytosis namespace: medical_genetics def: "A form of `poikilocytosis` (HP:0004447) 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 [] xref: UMLS:C0014772 xref: UMLS:C0014792 xref: UMLS:C0439179 xref: UMLS:C0700135 xref: UMLS:C1275629 xref: UMLS:C1277078 is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0005541 name: Congenital agranulocytosis namespace: medical_genetics def: "Congenital onset of a marked decrease in the number of `granulocytes` (CL:0000094)." [HPO:probinson] xref: UMLS:C0340970 is_a: HP:0001913 ! Granulocytopenia [Term] id: HP:0005542 name: Whole-blood clotting time prolonged namespace: medical_genetics synonym: "Prolonged clotting time" EXACT [] xref: UMLS:C0368930 xref: UMLS:C0427610 xref: UMLS:C0439590 xref: UMLS:C1318055 xref: UMLS:C2097087 xref: UMLS:C2266672 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0005543 name: Protein C deficiency namespace: medical_genetics def: "An `abnormality of coagulation` (HP:0001928) related to a `decreased concentration` (PATO:0001163) of `vitamin K-dependent protein C` (PR:000013261)." [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: "Plasma protein c deficiency" EXACT [] xref: UMLS:C0398625 xref: UMLS:C1867696 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0005544 name: Familial chronic myelocytic leukemia-like syndrome namespace: medical_genetics xref: UMLS:C0015576 xref: UMLS:C0023473 xref: UMLS:C0039082 xref: UMLS:C0241888 is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0005546 name: Increased red cell osmotic resistance namespace: medical_genetics xref: UMLS:C1858628 is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0005547 name: Myeloproliferative disorder namespace: medical_genetics xref: UMLS:C0027022 is_a: HP:0001909 ! Leukemia [Term] id: HP:0005548 name: Megakaryocytopenia namespace: medical_genetics def: "A `reduced count` (PATO:0002001) of `megakaryocytes` (CL:0000556)." [HPO:probinson] comment: Megakaryocytes are giant cells in the bone marrow. Mature blood platelets are released from the cytoplasm of megakaryocytes. xref: UMLS:C1858312 is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0005549 name: Congenital neutropenia namespace: medical_genetics def: "A form of `neutropenia` (HP:0001875) with congenital onset." [HPO:probinson] xref: UMLS:C0340970 is_a: HP:0001875 ! Neutropenia [Term] id: HP:0005550 name: Chronic lymphatic leukemia namespace: medical_genetics 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: "B-cell chronic lymphocytic leukemia" EXACT [] synonym: "Chronic lymphocytic leukemia" EXACT [] xref: UMLS:C0023434 xref: UMLS:C1868683 is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0005556 name: Abnormality of the metopic suture namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0224540 xref: UMLS:C1704258 is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures created_by: peter creation_date: 2008-03-27T10:04:00Z [Term] id: HP:0005557 name: Abnormality of the zygomatic arch namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0162485 xref: UMLS:C1280850 xref: UMLS:C1704258 is_a: HP:0000309 ! Abnormality of the midface created_by: peter creation_date: 2008-03-27T10:20:00Z [Term] id: HP:0005558 name: Chronic leukemia namespace: medical_genetics xref: UMLS:C1279296 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0022478 xref: UMLS:C0022714 xref: UMLS:C0449913 xref: UMLS:C1553451 xref: UMLS:C1704258 xref: UMLS:C1704459 xref: UMLS:C2004559 is_a: HP:0001871 ! Abnormality of the hematopoietic system created_by: peter creation_date: 2008-03-27T10:34:00Z [Term] id: HP:0005560 name: Thalassemia namespace: medical_genetics xref: UMLS:C0039730 is_a: HP:0001903 ! Anemia created_by: peter creation_date: 2008-03-27T10:44:00Z [Term] id: HP:0005561 name: Generalized abnormality of the bone marrow namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0005953 xref: UMLS:C0205246 xref: UMLS:C1704258 is_a: HP:0001871 ! Abnormality of the hematopoietic system created_by: peter creation_date: 2008-03-27T10:46:00Z [Term] id: HP:0005562 name: Multiple renal cysts namespace: medical_genetics xref: UMLS:C0431718 is_a: HP:0000107 ! Renal cysts [Term] id: HP:0005563 name: Decreased numbers of glomeruli namespace: medical_genetics xref: UMLS:C0022663 xref: UMLS:C0205216 xref: UMLS:C0237753 xref: UMLS:C0392756 is_a: HP:0000095 ! Morphological abnormalities of the glomeruli [Term] id: HP:0005564 name: Absence of corticomedullary differentiation namespace: medical_genetics alt_id: HP:0005581 synonym: "Loss of corticomedullary differentiation" EXACT [] xref: UMLS:C0007589 xref: UMLS:C1511938 xref: UMLS:C1517945 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0005932 ! Abnormal corticomedullary differentiation [Term] id: HP:0005565 name: Absent/poor corticomedullary differentiation namespace: medical_genetics xref: UMLS:C0007589 xref: UMLS:C0032854 xref: UMLS:C0332197 xref: UMLS:C0542537 xref: UMLS:C1511938 is_a: HP:0005932 ! Abnormal corticomedullary differentiation [Term] id: HP:0005567 name: Renal magnesium wasting namespace: medical_genetics xref: UMLS:C1835171 is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0005568 name: Urine concentration defect namespace: medical_genetics synonym: "Urine concentrating defect" EXACT [] xref: UMLS:C1969145 is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0005569 name: Medullary cystic disease namespace: medical_genetics xref: UMLS:C0687120 is_a: HP:0000107 ! Renal cysts [Term] id: HP:0005570 name: Renal failure by age 3 namespace: medical_genetics xref: UMLS:C0001779 xref: UMLS:C0035078 xref: UMLS:C1963154 is_a: HP:0003774 ! End stage renal disease [Term] id: HP:0005571 name: Increased renal tubular phosphate reabsorption namespace: medical_genetics synonym: "Increased percent tubular reabsorption of phosphorus" EXACT [] xref: UMLS:C0031705 xref: UMLS:C0080014 xref: UMLS:C0205217 xref: UMLS:C0232816 xref: UMLS:C0439165 xref: UMLS:C0442805 xref: UMLS:C1615057 xref: UMLS:C1968898 is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0005572 name: Decreased renal tubular phosphate excretion namespace: medical_genetics xref: UMLS:C1968899 is_a: HP:0011036 ! Abnormality of renal excretion [Term] id: HP:0005573 name: Loss of definition of corticomedullary differentiation namespace: medical_genetics xref: UMLS:C0007589 xref: UMLS:C1511938 xref: UMLS:C1517945 xref: UMLS:C1550452 xref: UMLS:C1704788 is_a: HP:0005932 ! Abnormal corticomedullary differentiation [Term] id: HP:0005574 name: Non-acidotic proximal tubulopathy namespace: medical_genetics xref: UMLS:C1968770 is_a: HP:0000114 ! Proximal renal tubule defect [Term] id: HP:0005575 name: Hemolytic-uremic syndrome namespace: medical_genetics xref: UMLS:C0019061 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0005576 name: Tubulointerstitial fibrosis namespace: medical_genetics xref: UMLS:C1969372 is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0005577 name: Disintegration of the tubular basement membrane namespace: medical_genetics xref: UMLS:C1265875 xref: UMLS:C1955404 is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0005578 name: Renal tubular cell atrophy with corticomedullary cysts namespace: medical_genetics xref: UMLS:C0007634 xref: UMLS:C0853104 xref: UMLS:C1269647 xref: UMLS:C1704653 xref: UMLS:C1858394 xref: UMLS:C1948049 is_a: HP:0000092 ! Tubular atrophy [Term] id: HP:0005579 name: Impaired reabsorption of chloride namespace: medical_genetics xref: UMLS:C0008203 xref: UMLS:C0221099 xref: UMLS:C0596019 xref: UMLS:C0684336 is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0005580 name: Duplication of renal pelvis namespace: medical_genetics def: "A duplication of the `renal pelvis` (FMA:15575)." [HPO:probinson] xref: UMLS:C0227666 xref: UMLS:C0332597 xref: UMLS:C1705960 is_a: HP:0000075 ! Renal duplication is_a: HP:0010944 ! Abnormality of the renal pelvis [Term] id: HP:0005582 name: Tubulointerstitial medullary cystic kidney disease namespace: medical_genetics xref: UMLS:C1865063 is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0005583 name: Tubular basement membrane disintegration namespace: medical_genetics xref: UMLS:C1968618 is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0005584 name: Renal cell carcinoma namespace: medical_genetics alt_id: HP:0006720 def: "A type of `carcinoma` (MPATH:549) of the `kidney` (FMA:7203) with origin in the epithelium of the `proximal convoluted renal tubule` (FMA:17693)." [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: UMLS:C0007134 xref: UMLS:C0279702 xref: UMLS:C1378703 is_a: HP:0009726 ! Renal neoplasm [Term] id: HP:0005585 name: Spotty hyperpigmentation namespace: medical_genetics synonym: "Patchy depigmentation" EXACT [] synonym: "Patchy hyperpigmentation" EXACT [] xref: UMLS:C0162835 xref: UMLS:C0205413 xref: UMLS:C1859428 xref: UMLS:C1868182 is_a: HP:0000953 ! Hyperpigmentation of the skin is_a: HP:0200033 ! patches [Term] id: HP:0005586 name: Hyperpigmentation in sun-exposed areas namespace: medical_genetics synonym: "Hyperpigmentation of exposed areas" EXACT [] xref: UMLS:C0038817 xref: UMLS:C0162834 xref: UMLS:C0332157 xref: UMLS:C0376223 xref: UMLS:C1504310 xref: UMLS:C1962962 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0005587 name: Profuse pigmented skin lesions namespace: medical_genetics xref: UMLS:C0262595 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0005588 name: Palmoplantar keratoderma, patchy namespace: medical_genetics xref: UMLS:C0022596 xref: UMLS:C0205413 is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0005589 name: Mild/severe skin hypopigmentation namespace: medical_genetics xref: UMLS:C0162835 xref: UMLS:C0205082 xref: UMLS:C0547040 xref: UMLS:C1519275 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0005590 name: Spotty hypopigmentation namespace: medical_genetics synonym: "Patchy hypopigmentation" EXACT [] xref: UMLS:C1859427 xref: UMLS:C1868183 is_a: HP:0001010 ! Hypopigmentation of the skin is_a: HP:0200033 ! patches [Term] id: HP:0005592 name: Giant melanosomes in melanocytes namespace: medical_genetics xref: UMLS:C0017547 xref: UMLS:C0025201 xref: UMLS:C0025213 is_a: HP:0001008 ! Accumulation of melanosomes in melanocytes [Term] id: HP:0005593 name: Macular hypopigmented whorls, streaks, and patches namespace: medical_genetics xref: UMLS:C0332574 xref: UMLS:C0577319 xref: UMLS:C0994894 xref: UMLS:C2348542 is_a: HP:0001053 ! Hypopigmented skin patches [Term] id: HP:0005595 name: Hyperkeratosis, generalized namespace: medical_genetics xref: UMLS:C0205246 xref: UMLS:C0870082 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0005596 name: Moderate to severe acne namespace: medical_genetics xref: UMLS:C0001144 xref: UMLS:C0205081 xref: UMLS:C0205082 xref: UMLS:C0702166 xref: UMLS:C1519275 xref: UMLS:C1881878 is_a: HP:0001061 ! Acne [Term] id: HP:0005597 name: Congenital alopecia totalis namespace: medical_genetics xref: UMLS:C1863091 is_a: HP:0001596 ! Alopecia [Term] id: HP:0005598 name: Facial telangiectasia in butterfly midface distribution namespace: medical_genetics 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 [] xref: UMLS:C0006496 xref: UMLS:C0520511 xref: UMLS:C0858684 xref: UMLS:C1455717 xref: UMLS:C1704711 is_a: HP:0007380 ! Facial telangiectatic vessels [Term] id: HP:0005599 name: Hair hypopigmentation namespace: medical_genetics xref: UMLS:C1855784 is_a: HP:0001022 ! Albinism is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0005600 name: Giant pigmented hairy nevus, often in lumbosacral distribution namespace: medical_genetics xref: UMLS:C0332183 xref: UMLS:C0450206 xref: UMLS:C0520511 xref: UMLS:C1704711 xref: UMLS:C1842036 is_a: HP:0003764 ! Abnormal or excess nevi [Term] id: HP:0005601 name: Occasional cafe-au-lait spots namespace: medical_genetics xref: UMLS:C1863412 is_a: HP:0000957 ! Cafe-au-lait spots [Term] id: HP:0005602 name: Progressive vitiligo namespace: medical_genetics xref: UMLS:C1855071 is_a: HP:0001045 ! Vitiligo [Term] id: HP:0005603 name: Numerous congenital melanocytic nevi namespace: medical_genetics xref: UMLS:C1855307 is_a: HP:0000995 ! Pigmented nevi [Term] id: HP:0005604 name: Giant pigmented nevi, often in lumbosacral distribution namespace: medical_genetics xref: UMLS:C0332183 xref: UMLS:C0334440 xref: UMLS:C0450206 xref: UMLS:C0520511 xref: UMLS:C1704711 is_a: HP:0000995 ! Pigmented nevi [Term] id: HP:0005605 name: Large cafe au lait spots within irregular margins namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C0205284 xref: UMLS:C0221263 xref: UMLS:C0229985 xref: UMLS:C0549177 xref: UMLS:C1269830 is_a: HP:0000957 ! Cafe-au-lait spots [Term] id: HP:0005606 name: Hyperpigmented nevi and streak namespace: medical_genetics xref: UMLS:C0746889 xref: UMLS:C2348542 is_a: HP:0000995 ! Pigmented nevi [Term] id: HP:0005607 name: Abnormality of the tracheobronchial system namespace: medical_genetics alt_id: HP:0005940 synonym: "Tracheobronchial anomalies" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0449913 xref: UMLS:C0450123 xref: UMLS:C1553451 xref: UMLS:C1704258 xref: UMLS:C1704459 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 namespace: medical_genetics def: "The presence of a `bilobed` (PATO:0002214) `gallbladder` (FMA:7202)." [HPO:probinson] xref: UMLS:C1846422 is_a: HP:0005264 ! Abnormality of the gallbladder [Term] id: HP:0005609 name: Gallbladder dysfunction namespace: medical_genetics xref: UMLS:C0232769 is_a: HP:0004393 ! Liver dysfunction [Term] id: HP:0005611 name: Craniodiaphyseal osteosclerosis namespace: medical_genetics xref: UMLS:C0029464 is_a: HP:0003034 ! Diaphyseal sclerosis [Term] id: HP:0005612 name: Arthrogryposis-like hand anomaly namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0003886 xref: UMLS:C0018563 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704257 xref: UMLS:C1704258 is_a: HP:0002804 ! Arthrogryposis multiplex congenita [Term] id: HP:0005613 name: Aplasia/hypoplasia of the femur namespace: medical_genetics alt_id: HP:0006396 alt_id: HP:0006425 def: "Absence or underdevelopment of the femur." [HPO:curators] synonym: "Hypoplastic to absent femora" EXACT [] synonym: "Hypoplastic/aplastic femora" EXACT [] xref: UMLS:C0015811 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1279112 is_a: HP:0002823 ! Abnormality of the femur is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs [Term] id: HP:0005615 name: Short bifid distal phalanges of thumbs and big toes namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0040067 xref: UMLS:C0443152 xref: UMLS:C1839829 is_a: HP:0001853 ! Bifid terminal phalanges (feet) [Term] id: HP:0005616 name: Accelerated skeletal maturation namespace: medical_genetics 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:C0037253 xref: UMLS:C0521110 xref: UMLS:C0521324 xref: UMLS:C0545053 xref: UMLS:C0870861 xref: UMLS:C1254042 xref: UMLS:C1855539 is_a: HP:0000927 ! Abnormality of skeletal maturation [Term] id: HP:0005617 name: Bilateral camptodactyly namespace: medical_genetics xref: UMLS:C0221369 xref: UMLS:C0238767 xref: UMLS:C0685409 is_a: HP:0100490 ! Camptodactyly (hands) [Term] id: HP:0005618 name: Asymmetric leg shortening namespace: medical_genetics def: "Shortening of the legs that affects one side more than the other." [HPO:curators] synonym: "Asymmetric lower limb shortness" EXACT [] xref: UMLS:C0023216 xref: UMLS:C0332514 xref: UMLS:C0441636 xref: UMLS:C1140621 xref: UMLS:C1269079 xref: UMLS:C1844734 is_a: HP:0005091 ! Asymmetric limb shortening [Term] id: HP:0005619 name: Thoracolumbar kyphosis namespace: medical_genetics alt_id: HP:0003439 synonym: "Thoracolumbar gibbus" EXACT [] synonym: "Thoracolumbar gibbus deformity" EXACT [] synonym: "Thoracolumbar kyphosis" EXACT [] xref: UMLS:C0022821 xref: UMLS:C0022822 xref: UMLS:C0265673 xref: UMLS:C0450219 xref: UMLS:C1845807 xref: UMLS:C1855418 is_a: HP:0002808 ! Kyphosis is_a: HP:0002942 ! Thoracic kyphosis [Term] id: HP:0005620 name: Hypermobility of interphalangeal joints namespace: medical_genetics def: "The ability of the interphalangeal joints to move beyond their normal range of motion." [HPO:curators] xref: UMLS:C0549185 xref: UMLS:C1563055 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005621 name: Trapezoidal shaped vertebral bodies namespace: medical_genetics xref: UMLS:C0223084 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C2337263 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0005622 name: Widened long bones with translucent metaphyseal flaring namespace: medical_genetics xref: UMLS:C0222647 xref: UMLS:C0332464 xref: UMLS:C0522503 xref: UMLS:C1282773 xref: UMLS:C1846802 is_a: HP:0003015 ! Metaphyseal flaring [Term] id: HP:0005623 name: Absent ossification of skull vault namespace: medical_genetics def: "Absent ossification of the calvaria (vault of the skull)." [HPO:curators] xref: UMLS:C0029433 xref: UMLS:C0037303 xref: UMLS:C0332197 xref: UMLS:C1550319 is_a: HP:0004331 ! Decreased skull ossification is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0005624 name: Short second and third or third and fourth metacarpals namespace: medical_genetics xref: UMLS:C0205436 xref: UMLS:C0205437 xref: UMLS:C0223774 xref: UMLS:C0457385 xref: UMLS:C0565930 xref: UMLS:C0730165 xref: UMLS:C1561503 xref: UMLS:C1705190 xref: UMLS:C1806781 xref: UMLS:C2348168 xref: UMLS:C2350002 is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0005625 name: Osteoporosis of vertebrae namespace: medical_genetics def: "Osteoporosis affecting predominantly the vertebrae." [HPO:curators] xref: UMLS:C0029456 xref: UMLS:C0549207 xref: UMLS:C1563292 xref: UMLS:C1962963 is_a: HP:0000939 ! Osteoporosis [Term] id: HP:0005626 name: Posterior fusion of lumbosacral vertebrae namespace: medical_genetics xref: UMLS:C0205095 xref: UMLS:C0223603 xref: UMLS:C0332466 xref: UMLS:C1281825 xref: UMLS:C1293131 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0005627 name: Type D brachydactyly namespace: medical_genetics synonym: "Brachydactyly type D" EXACT [] xref: UMLS:C0220664 xref: UMLS:C0221357 xref: UMLS:C0332307 xref: UMLS:C1547052 xref: UMLS:C1552651 xref: UMLS:C1849011 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005628 name: Short fourth toe proximal phalanx namespace: medical_genetics xref: UMLS:C0576462 xref: UMLS:C1862083 is_a: HP:0004701 ! Hypoplasia of the toes [Term] id: HP:0005630 name: Microbrachydactyly namespace: medical_genetics is_a: HP:0001201 ! Severe brachydactyly [Term] id: HP:0005631 name: Limb contractures, severe namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1969879 is_a: HP:0003121 ! Limb contractures [Term] id: HP:0005632 name: Absent forearm namespace: medical_genetics xref: UMLS:C1408532 is_a: HP:0003953 ! Absent ossification/absent forearm bones [Term] id: HP:0005638 name: Decreased anterioposterior diameter of lumbar vertebral bodies namespace: medical_genetics xref: UMLS:C0223486 xref: UMLS:C0332519 xref: UMLS:C1305452 is_a: HP:0008473 ! Narrow anterio-posterior vertebral body diameter [Term] id: HP:0005639 name: Hyperextensible hand joints namespace: medical_genetics def: "The ability of the joints of the hand to move beyond their normal range of motion." [HPO:curators] xref: UMLS:C1856877 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005640 name: Abnormal vertebral segmentation and fusion namespace: medical_genetics xref: UMLS:C0332466 xref: UMLS:C0549207 xref: UMLS:C1293131 xref: UMLS:C1862427 is_a: HP:0002948 ! Vertebral fusion is_a: HP:0003422 ! Vertebral segmentation defects [Term] id: HP:0005641 name: Flattened cervical vertebral bodies namespace: medical_genetics xref: UMLS:C0205064 xref: UMLS:C1836586 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005643 name: Brachydactyly of index fingers and third toes namespace: medical_genetics xref: UMLS:C0221357 xref: UMLS:C0230388 xref: UMLS:C1261101 is_a: HP:0001831 ! Brachydactyly (feet) is_a: HP:0100667 ! Brachydactyly (hand) [Term] id: HP:0005644 name: Moderate platyspondyly namespace: medical_genetics xref: UMLS:C0205081 xref: UMLS:C1865023 xref: UMLS:C1881878 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005645 name: Intervertebral disk calcification namespace: medical_genetics def: "The presence of abnormal `calcium deposition` (MPATH:36) of the `intervertebral disk` (FMA:10446)." [HPO:probinson] synonym: "Multiple intervertebral disk calcifications" EXACT [] xref: UMLS:C0410607 xref: UMLS:C0439064 is_a: HP:0005108 ! Abnormality of the intervertebral disk is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0005646 name: Severely adducted thumbs namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C1832151 is_a: HP:0001181 ! Adducted thumbs [Term] id: HP:0005647 name: Shortened bowed long bones namespace: medical_genetics xref: UMLS:C0205166 xref: UMLS:C0544755 xref: UMLS:C0575130 xref: UMLS:C1706317 is_a: HP:0004988 ! shortened long tubular bones [Term] id: HP:0005648 name: Bilateral symmetrical ulnar hypoplasia namespace: medical_genetics xref: UMLS:C0238767 xref: UMLS:C0332516 xref: UMLS:C0334078 xref: UMLS:C0442044 xref: UMLS:C1860614 is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0005649 name: Very short fifth finger middle phalanx namespace: medical_genetics xref: UMLS:C0442824 xref: UMLS:C0576463 xref: UMLS:C1842878 is_a: HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger [Term] id: HP:0005650 name: Cutaneous syndactyly between fingers 2 and 5 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0549188 xref: UMLS:C1861921 is_a: HP:0010554 ! Cutaneous syndactyly of the fingers [Term] id: HP:0005651 name: Flexion contractures of fingers and toes namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0040357 xref: UMLS:C0333068 xref: UMLS:C0549188 is_a: HP:0001836 ! Camptodactyly (feet) is_a: HP:0100490 ! Camptodactyly (hands) [Term] id: HP:0005652 name: Cortical sclerosis namespace: medical_genetics def: "Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity." [HPO:curators] xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0036429 is_a: HP:0003103 ! Abnormality of cortical bone is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005653 name: Moderate generalized osteoporosis namespace: medical_genetics def: "Moderate osteoporosis." [HPO:curators] xref: UMLS:C0205081 xref: UMLS:C1850194 xref: UMLS:C1881878 is_a: HP:0000939 ! Osteoporosis [Term] id: HP:0005654 name: Contractures of elbow and hip namespace: medical_genetics xref: UMLS:C0009917 xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C0019552 xref: UMLS:C0022122 xref: UMLS:C1305417 is_a: HP:0002987 ! Elbow contractures is_a: HP:0003273 ! Hip contractures [Term] id: HP:0005655 name: Multiple exostoses, esp digits namespace: medical_genetics xref: UMLS:C0015306 xref: UMLS:C0015373 xref: UMLS:C0037747 xref: UMLS:C0582802 xref: UMLS:C1421982 is_a: HP:0002762 ! Multiple exostoses [Term] id: HP:0005656 name: Positional foot deformities namespace: medical_genetics 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:curators] xref: UMLS:C0016506 xref: UMLS:C0240795 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0005657 name: Symmetric brachydactyly namespace: medical_genetics xref: UMLS:C0221357 xref: UMLS:C0332516 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005659 name: Thoracic kyphoscoliosis namespace: medical_genetics xref: UMLS:C0345392 xref: UMLS:C0575158 xref: UMLS:C0600033 is_a: HP:0002943 ! Thoracic scoliosis [Term] id: HP:0005660 name: Joint contractures, onset school age namespace: medical_genetics xref: UMLS:C0001779 xref: UMLS:C0009918 xref: UMLS:C0036375 xref: UMLS:C0332162 is_a: HP:0001371 ! Contractures [Term] id: HP:0005661 name: Salmonella osteomyelitis namespace: medical_genetics xref: UMLS:C0152491 is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0005662 name: Partial camptodactyly namespace: medical_genetics xref: UMLS:C0221369 xref: UMLS:C0685409 xref: UMLS:C0728938 xref: UMLS:C1550516 is_a: HP:0100490 ! Camptodactyly (hands) [Term] id: HP:0005663 name: Arthrogryposis may occur namespace: medical_genetics xref: UMLS:C0003886 xref: UMLS:C1709305 is_a: HP:0002804 ! Arthrogryposis multiplex congenita [Term] id: HP:0005664 name: Anterior tongue-like protrusion of lumbar vertebral bodies namespace: medical_genetics xref: UMLS:C0040408 xref: UMLS:C0223486 xref: UMLS:C0870814 xref: UMLS:C1265751 xref: UMLS:C1278913 xref: UMLS:C1305452 xref: UMLS:C2137027 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0005665 name: Massively thickened long bone cortices namespace: medical_genetics def: "Extreme thickening of the cortex of long bones." [HPO:curators] xref: UMLS:C0007776 xref: UMLS:C0205400 xref: UMLS:C0222647 xref: UMLS:C0522501 xref: UMLS:C1176472 xref: UMLS:C1282773 is_a: HP:0000935 ! Thickened cortex of long bones [Term] id: HP:0005667 name: Osodontoideum and atlanto-axial instability namespace: medical_genetics xref: UMLS:C1860795 is_a: HP:0003467 ! Atlantoaxial instability [Term] id: HP:0005668 name: Proximally displaced small thumbs namespace: medical_genetics xref: UMLS:C0012727 xref: UMLS:C0205107 xref: UMLS:C1849315 is_a: HP:0009623 ! Proximally placed thumb [Term] id: HP:0005669 name: Short, spear-shaped terminal phalanges namespace: medical_genetics xref: UMLS:C0332479 xref: UMLS:C0336708 xref: UMLS:C0522512 xref: UMLS:C1850198 is_a: HP:0009882 ! Hypoplasia of the distal phalanges of the hand [Term] id: HP:0005670 name: Major shortening in proximal phalanges namespace: medical_genetics xref: UMLS:C0205164 xref: UMLS:C0441636 xref: UMLS:C0576462 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand [Term] id: HP:0005671 name: Bilateral intracranial calcifications namespace: medical_genetics xref: UMLS:C0238767 xref: UMLS:C0240041 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0005673 name: Congenital radial head dislocation namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0434609 xref: UMLS:C1744681 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005674 name: Metacarpophalangeal camptodactyly namespace: medical_genetics xref: UMLS:C0221369 xref: UMLS:C0685409 is_a: HP:0100490 ! Camptodactyly (hands) [Term] id: HP:0005676 name: Rudimentary postaxial polydactyly of hands namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0220697 is_a: HP:0001162 ! Postaxial polydactyly (hands) [Term] id: HP:0005677 name: Partial clino-/syndactyly of toes namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C2117411 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0005678 name: Anterior atlanto-occipital dislocation namespace: medical_genetics xref: UMLS:C1184145 xref: UMLS:C1265658 xref: UMLS:C2109963 is_a: HP:0003414 ! Atlantoaxial dislocation [Term] id: HP:0005679 name: Dupuytren contractures namespace: medical_genetics xref: UMLS:C0013312 is_a: HP:0009473 ! Joint contractures involving the joints of the hand [Term] id: HP:0005680 name: Tongue-like lumbar vertebral deformities namespace: medical_genetics xref: UMLS:C0024090 xref: UMLS:C0040408 xref: UMLS:C0241673 xref: UMLS:C0870814 xref: UMLS:C1278913 xref: UMLS:C2137027 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0005681 name: Rheumatoid arthritis, juvenile namespace: medical_genetics xref: UMLS:C0003873 xref: UMLS:C0205653 is_a: HP:0001370 ! Rheumatoid arthritis [Term] id: HP:0005682 name: Talocalcaneal synostosis namespace: medical_genetics xref: UMLS:C0039093 xref: UMLS:C0391889 xref: UMLS:C1368355 is_a: HP:0008368 ! Synostosis involving tarsal bones [Term] id: HP:0005683 name: Cerebral and olivopontocerebellar atrophy namespace: medical_genetics xref: UMLS:C0028968 is_a: HP:0002542 ! Olivopontocerebellar atrophy [Term] id: HP:0005684 name: Distal arthrogryposis namespace: medical_genetics def: "A form of arthrogryposis primarily affecting the hands and the feet." [HPO:probinson] xref: UMLS:C0265213 is_a: HP:0002804 ! Arthrogryposis multiplex congenita [Term] id: HP:0005685 name: Severe skeletal dysplasia namespace: medical_genetics xref: UMLS:C0037253 xref: UMLS:C0205082 xref: UMLS:C0334048 xref: UMLS:C0410528 xref: UMLS:C0521324 xref: UMLS:C1519275 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0005686 name: Patchy osteosclerosis namespace: medical_genetics 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:C0005938 xref: UMLS:C0177804 xref: UMLS:C0205413 xref: UMLS:C0442805 xref: UMLS:C1855845 is_a: HP:0010658 ! Patchy changes of bone mineral density is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005687 name: Deformed humeral heads namespace: medical_genetics xref: UMLS:C0223683 xref: UMLS:C0333067 is_a: HP:0003871 ! Deformed humerus [Term] id: HP:0005688 name: Dysplastic distal thumb phalanges with a central hole namespace: medical_genetics xref: UMLS:C0040067 xref: UMLS:C0205099 xref: UMLS:C0205108 xref: UMLS:C0223792 xref: UMLS:C0334045 xref: UMLS:C0544726 xref: UMLS:C1269613 xref: UMLS:C1823381 xref: UMLS:C1879652 xref: UMLS:C1881060 is_a: HP:0009650 ! Hypoplastic/small distal phalanx of the thumb [Term] id: HP:0005689 name: Dermatoglyphic ridges abnormal namespace: medical_genetics xref: UMLS:C0011624 xref: UMLS:C0205161 xref: UMLS:C1947915 xref: UMLS:C2347472 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005690 name: Hypo/aplastic vermis namespace: medical_genetics xref: UMLS:C0228482 xref: UMLS:C0333912 xref: UMLS:C0334079 is_a: HP:0001320 ! Cerebellar vermis hypoplasia [Term] id: HP:0005691 name: Dilated ventricles by air encephalography namespace: medical_genetics xref: UMLS:C0032279 xref: UMLS:C0264733 is_a: HP:0002119 ! Ventriculomegaly [Term] id: HP:0005692 name: Joint hyperflexibility namespace: medical_genetics xref: UMLS:C0022417 xref: UMLS:C0392905 xref: UMLS:C1269611 xref: UMLS:C1706309 is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0005693 name: Disproportionately tall vertebral bodies namespace: medical_genetics synonym: "Tall vertebral bodies" EXACT [] xref: UMLS:C0205350 xref: UMLS:C1864853 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0005694 name: Partial fusion of proximal row of carpal bones namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0205107 xref: UMLS:C0332466 xref: UMLS:C0728938 xref: UMLS:C1293131 xref: UMLS:C1550516 xref: UMLS:C1552846 is_a: HP:0009702 ! Synostosis involving the carpal bones [Term] id: HP:0005696 name: Postaxial polydactyly type a namespace: medical_genetics xref: UMLS:C0220697 xref: UMLS:C0332307 xref: UMLS:C1547052 xref: UMLS:C1552651 xref: UMLS:C1849011 is_a: HP:0001162 ! Postaxial polydactyly (hands) [Term] id: HP:0005699 name: Mildly hypoplastic thumb namespace: medical_genetics xref: UMLS:C0431890 xref: UMLS:C0547040 xref: UMLS:C0750532 is_a: HP:0009778 ! Hypoplastic/small thumb [Term] id: HP:0005700 name: Increased bone density with cystic changes namespace: medical_genetics xref: UMLS:C0005938 xref: UMLS:C0029053 xref: UMLS:C0205217 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0442805 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1511605 is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005701 name: Multiple enchondromatosis namespace: medical_genetics xref: UMLS:C0013366 xref: UMLS:C0014084 is_a: HP:0002763 ! Abnormality of cartilage is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0005704 name: Metaphyseal dysplasia with massive calcific deposits namespace: medical_genetics xref: UMLS:C0265294 xref: UMLS:C0333562 xref: UMLS:C0522501 xref: UMLS:C1533591 is_a: HP:0100255 ! Metaphyseal dysplasia [Term] id: HP:0005705 name: Severe vertebral segmentation defects namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0432163 xref: UMLS:C1519275 is_a: HP:0003422 ! Vertebral segmentation defects [Term] id: HP:0005706 name: Short middle phalanx of fingers 2 and 5 namespace: medical_genetics alt_id: HP:0005734 synonym: "Brachymesophalangy affecting mainly the 2nd and 5th digits" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0205439 xref: UMLS:C0392760 xref: UMLS:C0549188 xref: UMLS:C0582802 xref: UMLS:C1314939 xref: UMLS:C1843680 xref: UMLS:C1846950 is_a: HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger [Term] id: HP:0005707 name: Bilateral digitalized thumbs namespace: medical_genetics synonym: "Digitalized thumb" EXACT [] xref: UMLS:C0238767 xref: UMLS:C1835605 is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005709 name: Cutaneous syndactyly of fingers 3 and 4 and toes 2 and 3 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0040357 xref: UMLS:C0549188 xref: UMLS:C1861921 is_a: HP:0010554 ! Cutaneous syndactyly of the fingers is_a: HP:0010621 ! Cutaneous syndactyly of the toes [Term] id: HP:0005714 name: Bilateral hypoplasia of radius and ulna namespace: medical_genetics xref: UMLS:C0034627 xref: UMLS:C0041600 xref: UMLS:C0334078 xref: UMLS:C1279083 xref: UMLS:C1279087 xref: UMLS:C1306504 is_a: HP:0002984 ! Hypoplasia of the radius [Term] id: HP:0005715 name: Flattened knee epiphyses namespace: medical_genetics xref: UMLS:C0022742 xref: UMLS:C0022745 xref: UMLS:C1283838 xref: UMLS:C1857527 xref: UMLS:C1963703 is_a: HP:0002815 ! Abnormality of the knees is_a: HP:0003071 ! Flattened epiphyses [Term] id: HP:0005716 name: Lethal skeletal dysplasia namespace: medical_genetics xref: UMLS:C0410528 is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0005717 name: Short stubby metacarpals and phalanges namespace: medical_genetics xref: UMLS:C0223792 xref: UMLS:C1837084 is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0005718 name: Radial aplasia/hypoplasia namespace: medical_genetics xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1838608 is_a: HP:0002984 ! Hypoplasia of the radius [Term] id: HP:0005719 name: Mild vertebral anomalies namespace: medical_genetics xref: UMLS:C0265343 xref: UMLS:C0547040 is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0005720 name: Shortening of all phalanges and metacarpals namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0223792 xref: UMLS:C0441636 is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0005721 name: Thenar and hypothenar hypoplasia namespace: medical_genetics def: "Underdevelopment of the thenar and the hypothenar eminences." [HPO:curators] xref: UMLS:C0230374 xref: UMLS:C1861395 is_a: HP:0001245 ! Thenar hypoplasia is_a: HP:0010487 ! Hypoplasia of the hypothenar eminence [Term] id: HP:0005722 name: Hyperextensible thumb namespace: medical_genetics def: "The ability of the thumb joints to move beyond their normal range of motion." [HPO:curators] xref: UMLS:C0040067 xref: UMLS:C1269613 is_a: HP:0005639 ! Hyperextensible hand joints [Term] id: HP:0005723 name: Shoe-shaped sella turcica namespace: medical_genetics xref: UMLS:C0036609 xref: UMLS:C0036988 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1280694 is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005724 name: Hypoplasia of inferior vermis and cerebellum namespace: medical_genetics xref: UMLS:C0007765 xref: UMLS:C0228482 xref: UMLS:C0243069 xref: UMLS:C0542339 xref: UMLS:C0543481 xref: UMLS:C0678975 xref: UMLS:C1268981 is_a: HP:0001320 ! Cerebellar vermis hypoplasia [Term] id: HP:0005725 name: Nonopposable triphalangeal thumbs namespace: medical_genetics xref: UMLS:C1860806 is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005726 name: Thumbs hypoplastic with bulbous tips namespace: medical_genetics xref: UMLS:C0025148 xref: UMLS:C0339897 xref: UMLS:C0431890 xref: UMLS:C1449865 xref: UMLS:C1947952 is_a: HP:0009778 ! Hypoplastic/small thumb [Term] id: HP:0005727 name: Brachydactyly of hands and feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0018563 xref: UMLS:C0221357 xref: UMLS:C0347981 is_a: HP:0001831 ! Brachydactyly (feet) is_a: HP:0100667 ! Brachydactyly (hand) [Term] id: HP:0005731 name: Cortical irregularity namespace: medical_genetics def: "An abnormal irregularity of cortical bone." [HPO:curators] xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0205271 is_a: HP:0003103 ! Abnormality of cortical bone [Term] id: HP:0005732 name: Reduced sagittal diameter and anterior beaking of vertebrae namespace: medical_genetics xref: UMLS:C0205094 xref: UMLS:C0205129 xref: UMLS:C0392756 xref: UMLS:C0549207 xref: UMLS:C1301886 is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0005733 name: Narrowed spinal canal with reduced interpedicular distance namespace: medical_genetics xref: UMLS:C0012751 xref: UMLS:C0037922 xref: UMLS:C0333164 xref: UMLS:C0392756 is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0005736 name: Hypoplastic tibia namespace: medical_genetics xref: UMLS:C0040184 xref: UMLS:C0543481 xref: UMLS:C1279118 is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia [Term] id: HP:0005739 name: Posterior subluxation of radial head namespace: medical_genetics def: "Partial dislocation of the head of the radius in the posterior direction." [HPO:curators] xref: UMLS:C0205095 xref: UMLS:C0223696 xref: UMLS:C0332768 is_a: HP:0003048 ! Radial head subluxation [Term] id: HP:0005740 name: Small iliac bodies namespace: medical_genetics xref: UMLS:C0020889 xref: UMLS:C0700321 xref: UMLS:C1995017 is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0005743 name: Avascular necrosis of the capital femoral epiphysis namespace: medical_genetics alt_id: HP:0003280 alt_id: HP:0006448 alt_id: HP:0010887 def: "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." [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: "Abnormal femoral head with degenerative changes" EXACT [] synonym: "Coxa plana" EXACT [] 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: UMLS:C0011164 xref: UMLS:C0015813 xref: UMLS:C0023234 xref: UMLS:C0205161 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C1705241 xref: UMLS:C2347472 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0100323 ! Juvenile aseptic necrosis [Term] id: HP:0005744 name: Generalized osteoporosis with pathologic fractures namespace: medical_genetics xref: UMLS:C0016663 xref: UMLS:C1850194 is_a: HP:0000939 ! Osteoporosis [Term] id: HP:0005745 name: Congenital foot contractures namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0332878 xref: UMLS:C0347981 xref: UMLS:C1281587 xref: UMLS:C2346504 xref: UMLS:C2348613 xref: UMLS:C2348704 is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0005746 name: Osteosclerosis of calvaria and base of the skull namespace: medical_genetics def: "An increase in bone density affecting the calvaria (roof of the skull) and the basicranium (base of the skull)." [HPO:curators] comment: Bundled term. Consider obsoleting it and splitting of osteosclerosis of base of skull. xref: UMLS:C0029464 xref: UMLS:C0037303 xref: UMLS:C0178499 xref: UMLS:C0205950 xref: UMLS:C1626935 xref: UMLS:C1880279 is_a: HP:0005450 ! Calvarial osteosclerosis [Term] id: HP:0005747 name: Easily subluxated first metacarpophalangeal joints namespace: medical_genetics xref: UMLS:C0025525 xref: UMLS:C0205435 xref: UMLS:C0332219 xref: UMLS:C0332768 xref: UMLS:C1279901 is_a: HP:0004294 ! Subluxation of metacarpal phalangeal joints [Term] id: HP:0005748 name: Absent distal phalanges of index fingers and second toes namespace: medical_genetics xref: UMLS:C0230388 xref: UMLS:C1261100 xref: UMLS:C1861339 is_a: HP:0009565 ! Aplasia of the distal phalanx of the 2nd finger [Term] id: HP:0005749 name: Irregular epiphyses with delayed growth namespace: medical_genetics xref: UMLS:C0456070 xref: UMLS:C1846449 is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0005750 name: Contractures of the joints of the lower limbs namespace: medical_genetics synonym: "Contractures, lower limbs" EXACT [] xref: UMLS:C0009917 xref: UMLS:C0023216 is_a: HP:0003121 ! Limb contractures [Term] id: HP:0005751 name: Ridging of metopic suture namespace: medical_genetics def: "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." [HPO:curator] xref: UMLS:C0224540 xref: UMLS:C0332243 is_a: HP:0005556 ! Abnormality of the metopic suture [Term] id: HP:0005752 name: Flattened moderately deformed vertebrae namespace: medical_genetics xref: UMLS:C0333067 xref: UMLS:C1844704 xref: UMLS:C1881878 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005753 name: Mild limb shortening namespace: medical_genetics xref: UMLS:C0547040 xref: UMLS:C1849181 is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0005756 name: Epiphyseal stippling in neonates namespace: medical_genetics xref: UMLS:C0021289 xref: UMLS:C1844845 is_a: HP:0010655 ! Stippling of the epiphyses is_a: HP:0010656 ! Abnormality of the mineralisation or ossification of the epiphyses [Term] id: HP:0005757 name: Marked sclerosis of skull base namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0149543 xref: UMLS:C0522501 xref: UMLS:C1706089 is_a: HP:0002694 ! Sclerotic skull base [Term] id: HP:0005758 name: Foramen magnum lesion namespace: medical_genetics xref: UMLS:C0016519 xref: UMLS:C0221198 xref: UMLS:C1269901 is_a: HP:0002699 ! Abnormality of the foramen magnum [Term] id: HP:0005759 name: Small flat posterior fossa namespace: medical_genetics def: "An abnormally small and flat configuration of the posterior cranial fossa." [HPO:curators] xref: UMLS:C0205324 xref: UMLS:C0457933 xref: UMLS:C0700321 xref: UMLS:C1116439 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0005760 name: Index fingers short with absent middle phalanges namespace: medical_genetics xref: UMLS:C0230388 xref: UMLS:C1806781 xref: UMLS:C1862098 xref: UMLS:C2350002 is_a: HP:0009576 ! Aplasia of the middle phalanx of the 2nd finger [Term] id: HP:0005762 name: Osteoarthritis, more common in adults namespace: medical_genetics xref: UMLS:C0001675 xref: UMLS:C0029408 xref: UMLS:C0205214 is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0005764 name: Polyarticular arthritis namespace: medical_genetics xref: UMLS:C0694562 is_a: HP:0005195 ! Polyarticular arthropathy [Term] id: HP:0005765 name: Sacral meningocele namespace: medical_genetics xref: UMLS:C0521556 is_a: HP:0005107 ! Abnormality of the sacrum [Term] id: HP:0005766 name: Disproportionate shortening of the tibia namespace: medical_genetics xref: UMLS:C0040184 xref: UMLS:C0205350 xref: UMLS:C0441636 xref: UMLS:C1279118 is_a: HP:0002993 ! Short tibia [Term] id: HP:0005767 name: Complete cutaneous syndactyly of toes 1 and 2 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C1861921 is_a: HP:0010621 ! Cutaneous syndactyly of the toes [Term] id: HP:0005768 name: Soft tissue syndactyly of toes 2, 3, and 4 namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0225317 xref: UMLS:C1522192 xref: UMLS:C2117411 is_a: HP:0010621 ! Cutaneous syndactyly of the toes [Term] id: HP:0005769 name: Fifth finger distal phalanx clinodactyly namespace: medical_genetics xref: UMLS:C0576464 xref: UMLS:C1857528 is_a: HP:0004209 ! Clinodactyly of the 5th finger [Term] id: HP:0005770 name: Delay of myelination on brain mri namespace: medical_genetics xref: UMLS:C0205421 xref: UMLS:C0412675 xref: UMLS:C0596991 xref: UMLS:C0881827 is_a: HP:0002188 ! Delayed myelination [Term] id: HP:0005772 name: Aplasia/Hypoplasia of the tibia namespace: medical_genetics def: "Absence or underdevelopment of the tibia." [HPO:curators] synonym: "Absent/hypoplastic tibia" EXACT [] synonym: "Aplastic/hypoplastic tibia" EXACT [] xref: UMLS:C0040184 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1279118 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: Anteriorly bent short forearms namespace: medical_genetics xref: UMLS:C0205094 xref: UMLS:C0205133 xref: UMLS:C1855299 xref: UMLS:C1879831 is_a: HP:0009821 ! Hypoplasia involving forearm bones [Term] id: HP:0005774 name: Absent middle phalanges of fingers 2 and 5 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0549188 xref: UMLS:C1862098 is_a: HP:0009162 ! Aplasia of the middle phalanx of the 5th finger is_a: HP:0009576 ! Aplasia of the middle phalanx of the 2nd finger [Term] id: HP:0005775 name: Multiple skeletal anomalies namespace: medical_genetics xref: UMLS:C0000772 xref: UMLS:C0037253 xref: UMLS:C0521324 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0005776 name: Carpal bone malsegmentation namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C1849659 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0005777 name: Short middle and distal phalanges of digits ii through v namespace: medical_genetics xref: UMLS:C0444598 xref: UMLS:C0576464 xref: UMLS:C0582802 xref: UMLS:C1552826 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0009882 ! Hypoplasia of the distal phalanges of the hand [Term] id: HP:0005779 name: Spondylolysis and spondylolisthesis of l5 namespace: medical_genetics xref: UMLS:C0038016 xref: UMLS:C0038018 xref: UMLS:C1969618 is_a: HP:0003302 ! Spondylolisthesis [Term] id: HP:0005780 name: No fourth finger distal interphalangeal crease namespace: medical_genetics xref: UMLS:C0205108 xref: UMLS:C0230398 is_a: HP:0001032 ! Aplasia of the distal interphalangeal creases [Term] id: HP:0005781 name: Contractures of the large joints namespace: medical_genetics xref: UMLS:C0009917 xref: UMLS:C0022417 xref: UMLS:C0392905 xref: UMLS:C0549177 is_a: HP:0001371 ! Contractures [Term] id: HP:0005782 name: Mild flattening and biconcavity of the vertebral bodies namespace: medical_genetics xref: UMLS:C0016203 xref: UMLS:C0223084 xref: UMLS:C0547040 is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0005787 name: Lumbar platyspondyly namespace: medical_genetics xref: UMLS:C0024090 xref: UMLS:C1865023 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005788 name: Abnormal cervical myelogram namespace: medical_genetics xref: UMLS:C0202702 xref: UMLS:C0205161 xref: UMLS:C1633740 xref: UMLS:C2347472 is_a: HP:0002318 ! Cervical myelopathy [Term] id: HP:0005789 name: Osteosclerosis, diffuse symmetrical namespace: medical_genetics alt_id: HP:0005805 synonym: "Diffuse, symmetrical osteosclerosis" EXACT [] xref: UMLS:C0029464 xref: UMLS:C0205219 xref: UMLS:C0332516 is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0005790 name: Short mandibular condyles namespace: medical_genetics xref: UMLS:C0024688 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0003778 ! Short mandibular rami [Term] id: HP:0005791 name: Cortical thickening of long bone diaphyses namespace: medical_genetics def: "Abnormal thickening of the cortex of the diaphyseal region of long bones." [HPO:curators] xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0205400 xref: UMLS:C0222647 xref: UMLS:C0242696 xref: UMLS:C1282773 is_a: HP:0000935 ! Thickened cortex of long bones is_a: HP:0000940 ! Abnormality of the diaphyses [Term] id: HP:0005792 name: Humeral hypoplasia namespace: medical_genetics alt_id: HP:0002989 synonym: "Hypoplastic humerus" EXACT [] xref: UMLS:C0020164 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1846471 is_a: HP:0006507 ! Aplasia/Hypoplasia of the humerus [Term] id: HP:0005793 name: Absent/hypoplastic distal phalanges of hands and feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0018563 xref: UMLS:C0332197 xref: UMLS:C0347981 xref: UMLS:C1866004 is_a: HP:0001991 ! Aplasia/Hypoplasia of the toes is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand [Term] id: HP:0005794 name: Arterial disease of legs namespace: medical_genetics xref: UMLS:C0852949 xref: UMLS:C1140621 is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005795 name: Short tapering fingers namespace: medical_genetics alt_id: HP:0006111 synonym: "Short, distally tapering fingers" EXACT [] synonym: "Short, tapering fingers" EXACT [] xref: UMLS:C0239594 xref: UMLS:C0426886 xref: UMLS:C0441640 xref: UMLS:C1548969 xref: UMLS:C1806781 xref: UMLS:C1863318 xref: UMLS:C2350002 is_a: HP:0001182 ! Tapered fingers [Term] id: HP:0005796 name: Short second and fifth fingers namespace: medical_genetics xref: UMLS:C0205436 xref: UMLS:C0230403 xref: UMLS:C0457385 xref: UMLS:C0565930 xref: UMLS:C1561503 xref: UMLS:C1705190 xref: UMLS:C1806781 xref: UMLS:C2348168 xref: UMLS:C2350002 is_a: HP:0009381 ! Hypoplastic/small fingers [Term] id: HP:0005798 name: Congenital radial head posterior dislocation namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0205095 xref: UMLS:C0434609 xref: UMLS:C1744681 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005802 name: Coalescence of tarsal bones namespace: medical_genetics xref: UMLS:C0039316 is_a: HP:0008368 ! Synostosis involving tarsal bones [Term] id: HP:0005803 name: Coned epiphyses of hands and feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0018563 xref: UMLS:C0347981 xref: UMLS:C1846954 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand [Term] id: HP:0005806 name: Intracerebral calcification on CT scan namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0040405 xref: UMLS:C0175895 xref: UMLS:C0442111 xref: UMLS:C1533591 xref: UMLS:C1547980 xref: UMLS:C1879982 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0005807 name: Absent distal phalanges namespace: medical_genetics def: "Aplasia (absence) of the distal phalanges." [HPO:curators] xref: UMLS:C1861339 is_a: HP:0009835 ! Aplasia/Hypoplasia of the distal phalanges of the hand [Term] id: HP:0005809 name: Arthrogryposis, congenital namespace: medical_genetics xref: UMLS:C0003886 xref: UMLS:C0009678 xref: UMLS:C1744681 is_a: HP:0002804 ! Arthrogryposis multiplex congenita [Term] id: HP:0005811 name: Ulnar deviation of index fingers namespace: medical_genetics synonym: "Second finger ulnar deviation" EXACT [] synonym: "Ulnar angulation of the index finger" EXACT [] xref: UMLS:C0230388 xref: UMLS:C0333179 xref: UMLS:C0442044 xref: UMLS:C0449752 xref: UMLS:C1841682 is_a: HP:0009465 ! Ulnar deviation of fingers [Term] id: HP:0005813 name: Short 5th finger with absent/rudimentary middle phalanx namespace: medical_genetics xref: UMLS:C0205439 xref: UMLS:C0239594 xref: UMLS:C0332197 xref: UMLS:C0576463 is_a: HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger [Term] id: HP:0005814 name: Severe flexion contractures of hands and feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0018563 xref: UMLS:C0205082 xref: UMLS:C0333068 xref: UMLS:C0347981 xref: UMLS:C1519275 is_a: HP:0005750 ! Contractures of the joints of the lower limbs is_a: HP:0009473 ! Joint contractures involving the joints of the hand [Term] id: HP:0005815 name: Supernumerary ribs namespace: medical_genetics alt_id: HP:0000901 synonym: "Extra ribs" EXACT [] xref: UMLS:C0345397 is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0009144 ! Supernumerary bones of the axial skeleton [Term] id: HP:0005817 name: Hallucal and postaxial polysyndactyly of the feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0018534 xref: UMLS:C0205109 xref: UMLS:C0265553 xref: UMLS:C0347981 is_a: HP:0001830 ! Postaxial polydactyly (feet) [Term] id: HP:0005818 name: Aplasia/Hypoplastia of the distal phalanges of the toes namespace: medical_genetics alt_id: HP:0005735 def: "Absence or underdevelopment of the distal phalanges of the toes." [HPO:curators] synonym: "Absent/hypoplastic terminal phalanges of toes" EXACT [] synonym: "Hypoplasia/agenesis of distal phalanges of toes" RELATED [] xref: UMLS:C0000846 xref: UMLS:C0040357 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0332907 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C1837681 xref: UMLS:C2119045 is_a: HP:0001991 ! Aplasia/Hypoplasia of the toes [Term] id: HP:0005819 name: Abnormally short and broad middle phalanges namespace: medical_genetics xref: UMLS:C0205161 xref: UMLS:C0444598 xref: UMLS:C1552826 xref: UMLS:C1806781 xref: UMLS:C1842230 xref: UMLS:C2347472 xref: UMLS:C2350002 is_a: HP:0010240 ! Hypoplasia of the middle phalanges of the hand [Term] id: HP:0005820 name: Superior rib anomalies namespace: medical_genetics xref: UMLS:C0432172 xref: UMLS:C1282910 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0005822 name: Slightly shortened forearms and legs namespace: medical_genetics xref: UMLS:C0750482 xref: UMLS:C1140621 xref: UMLS:C1848661 is_a: HP:0005077 ! slightly short long bones [Term] id: HP:0005824 name: Clinodactyly of second toes namespace: medical_genetics xref: UMLS:C0265610 xref: UMLS:C1261100 is_a: HP:0001863 ! Clinodactyly of feet [Term] id: HP:0005825 name: Mixed sclerosis of humeral metaphyses namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0205430 xref: UMLS:C0824823 is_a: HP:0003918 ! Sclerotic humeral metaphysis [Term] id: HP:0005827 name: Incipient distal thumb phalanx duplication namespace: medical_genetics xref: UMLS:C0040067 xref: UMLS:C0205108 xref: UMLS:C0205256 xref: UMLS:C0332597 xref: UMLS:C0560733 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1705960 is_a: HP:0009606 ! duplicated distal phalanx of the thumb [Term] id: HP:0005828 name: Transient pulmonary infiltrates namespace: medical_genetics xref: UMLS:C0040704 xref: UMLS:C0205374 xref: UMLS:C0235896 is_a: HP:0002113 ! Pulmonary infiltrates [Term] id: HP:0005829 name: Maldevelopment of radioulnar joint namespace: medical_genetics xref: UMLS:C0450209 xref: UMLS:C1456420 is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0005830 name: Partial flexion contractures of fingers and toes namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0040357 xref: UMLS:C0333068 xref: UMLS:C0549188 xref: UMLS:C0728938 xref: UMLS:C1550516 is_a: HP:0001836 ! Camptodactyly (feet) is_a: HP:0100490 ! Camptodactyly (hands) [Term] id: HP:0005831 name: Type B brachydactyly namespace: medical_genetics xref: UMLS:C1862112 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005832 name: Dysharmonic delayed bone age namespace: medical_genetics alt_id: HP:0005840 synonym: "Dysharmonic skeletal maturation" EXACT [] xref: UMLS:C0037253 xref: UMLS:C0521324 xref: UMLS:C0541764 xref: UMLS:C0870861 xref: UMLS:C1254042 is_a: HP:0002750 ! Delayed skeletal maturation is_a: HP:0200000 ! Dysharmonic bone age [Term] id: HP:0005833 name: Joint swelling onset late infancy namespace: medical_genetics xref: UMLS:C0152031 xref: UMLS:C0205087 xref: UMLS:C0231330 xref: UMLS:C0332162 is_a: HP:0001386 ! Joint swelling [Term] id: HP:0005834 name: Thumbs hypo/aplastic namespace: medical_genetics is_obsolete: true [Term] id: HP:0005836 name: Dislocated radius namespace: medical_genetics xref: UMLS:C0034627 xref: UMLS:C0332766 xref: UMLS:C1279083 xref: UMLS:C1306504 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005837 name: Joint dislocations in young adult namespace: medical_genetics xref: UMLS:C0012691 xref: UMLS:C0238598 is_a: HP:0001373 ! Joint dislocation [Term] id: HP:0005839 name: Limb contractures by age 4-5 years namespace: medical_genetics xref: UMLS:C1510829 xref: UMLS:C1969879 is_a: HP:0003121 ! Limb contractures [Term] id: HP:0005841 name: Calcific stippling of infantile cartilaginous skeleton namespace: medical_genetics xref: UMLS:C0007301 xref: UMLS:C0037253 xref: UMLS:C0231330 xref: UMLS:C0816871 xref: UMLS:C1283922 xref: UMLS:C1849993 is_a: HP:0010655 ! Stippling of the epiphyses [Term] id: HP:0005844 name: Short, rounded, abnormal-shaped middle phalanges namespace: medical_genetics xref: UMLS:C0332482 xref: UMLS:C0332490 xref: UMLS:C0576463 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0010240 ! Hypoplasia of the middle phalanges of the hand [Term] id: HP:0005845 name: Camptodactyly of fingers 4 and 5 namespace: medical_genetics def: "Chronic loss of joint motion of one or more joints of the 4th and 5th finger due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected." [HPO:curators] synonym: "Joint contractures of the fingers 4 and 5" EXACT [] xref: UMLS:C0009918 xref: UMLS:C0016129 xref: UMLS:C0221369 xref: UMLS:C0549188 xref: UMLS:C0685409 is_a: HP:0009183 ! Joint contractures of the 5th finger is_a: HP:0009274 ! Joint contractures of the 4th finger [Term] id: HP:0005846 name: Thumb replaced by one or two triphalangeal digits namespace: medical_genetics xref: UMLS:C0040067 xref: UMLS:C0205447 xref: UMLS:C0205448 xref: UMLS:C0559956 xref: UMLS:C0582802 xref: UMLS:C1269613 is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005848 name: Broad or bifid thumb distal phalanx namespace: medical_genetics xref: UMLS:C0265608 xref: UMLS:C0332464 xref: UMLS:C0576464 is_a: HP:0009642 ! Broad distal phalanx of the thumb [Term] id: HP:0005849 name: Diffuse cerebral calcification namespace: medical_genetics xref: UMLS:C0205219 xref: UMLS:C0270685 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0005850 name: Congenital talipes calcaneovalgus namespace: medical_genetics xref: UMLS:C0152237 is_a: HP:0001884 ! Talipes calcaneovalgus [Term] id: HP:0005852 name: Limited elbow extension and supination namespace: medical_genetics xref: UMLS:C0038845 xref: UMLS:C1865003 is_a: HP:0001377 ! Limited elbow extension [Term] id: HP:0005853 name: Congenital foot contraction deformities namespace: medical_genetics xref: UMLS:C0016508 xref: UMLS:C1140999 is_a: HP:0002803 ! Congenital contractures [Term] id: HP:0005855 name: Multiple prenatal fractures namespace: medical_genetics 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 [] xref: UMLS:C0005615 xref: UMLS:C0009678 xref: UMLS:C0016655 xref: UMLS:C0016658 xref: UMLS:C0033052 xref: UMLS:C0150312 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0439064 xref: UMLS:C0449450 xref: UMLS:C0678804 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1550722 xref: UMLS:C1744681 xref: UMLS:C1880851 is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0005856 name: Ulnar dislocation of radial heads namespace: medical_genetics xref: UMLS:C0012691 xref: UMLS:C0223696 xref: UMLS:C0442044 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005857 name: Cervical spina bifida namespace: medical_genetics xref: UMLS:C0742190 is_a: HP:0002414 ! Spina bifida [Term] id: HP:0005859 name: Arthrogryposis multiplex congenita may occur namespace: medical_genetics xref: UMLS:C0003886 xref: UMLS:C1709305 is_a: HP:0002804 ! Arthrogryposis multiplex congenita [Term] id: HP:0005860 name: Extensive colonic diverticulosis namespace: medical_genetics xref: UMLS:C0012819 xref: UMLS:C0205231 is_a: HP:0002253 ! Colon diverticula [Term] id: HP:0005862 name: Delayed epiphyseal and carpal bone ossification namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0014570 xref: UMLS:C0029433 xref: UMLS:C0205421 xref: UMLS:C0242416 xref: UMLS:C1322271 is_a: HP:0002663 ! Late ossifying epiphyses [Term] id: HP:0005863 name: Type E brachydactyly namespace: medical_genetics xref: UMLS:C1862102 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005864 name: Pseudoarthrosis namespace: medical_genetics synonym: "Pseudoarthroses" EXACT [] xref: UMLS:C0033785 is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0005866 name: Opposable triphalangeal thumbs namespace: medical_genetics xref: UMLS:C0231519 xref: UMLS:C0241397 xref: UMLS:C0680238 xref: UMLS:C1253942 is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005867 name: Fused fourth and fifth metacarpals namespace: medical_genetics synonym: "Fused 4th-5th metacarpals" EXACT [] xref: UMLS:C0205438 xref: UMLS:C0223783 xref: UMLS:C0699952 xref: UMLS:C0730166 xref: UMLS:C1859768 is_a: HP:0009707 ! Synostosis involving the 4th metacarpal [Term] id: HP:0005868 name: Metaphyseal enchondromatosis namespace: medical_genetics xref: UMLS:C0265290 is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0005870 name: Bilateral absent thumb and radius namespace: medical_genetics xref: UMLS:C0034627 xref: UMLS:C0238767 xref: UMLS:C0241391 xref: UMLS:C1279083 xref: UMLS:C1306504 is_a: HP:0004977 ! bilateral absence of radius [Term] id: HP:0005871 name: Metaphyseal chondrodysplasia namespace: medical_genetics xref: UMLS:C0265290 is_a: HP:0100255 ! Metaphyseal dysplasia [Term] id: HP:0005872 name: Brachytelomesophalangy namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005873 name: Polysyndactyly of great toes namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0265553 xref: UMLS:C1281588 is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0005874 name: Clubbing of fingers and toes namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0040357 xref: UMLS:C0149651 xref: UMLS:C0549188 is_a: HP:0001217 ! Clubbing [Term] id: HP:0005875 name: Increased dermatoglyphic whorls namespace: medical_genetics xref: UMLS:C0011624 xref: UMLS:C0205217 xref: UMLS:C0442805 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005876 name: Joint contractures, progressive namespace: medical_genetics xref: UMLS:C0009918 xref: UMLS:C0205329 is_a: HP:0001371 ! Contractures [Term] id: HP:0005877 name: Multiple small vertebral fractures namespace: medical_genetics xref: UMLS:C0016655 xref: UMLS:C0549207 xref: UMLS:C0700321 is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0005878 name: Enlarged sagittal diameter of the cervical canal namespace: medical_genetics xref: UMLS:C0007874 xref: UMLS:C0205129 xref: UMLS:C0227841 xref: UMLS:C0442800 xref: UMLS:C1280355 xref: UMLS:C1293134 xref: UMLS:C1301886 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0005879 name: Congenital finger flexion contractures namespace: medical_genetics synonym: "Congenital finger contractures" EXACT [] xref: UMLS:C0231452 xref: UMLS:C1393871 is_a: HP:0100490 ! Camptodactyly (hands) [Term] id: HP:0005880 name: Metacarpophalangeal synostoses namespace: medical_genetics xref: UMLS:C0039093 is_a: HP:0009701 ! Synostosis involving the metacarpal bones [Term] id: HP:0005881 name: Spinal instability namespace: medical_genetics xref: UMLS:C0410648 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0005882 name: Dermatoglyphic variants namespace: medical_genetics xref: UMLS:C0011624 xref: UMLS:C0205419 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005883 name: Broad thumbs and broad great toes namespace: medical_genetics xref: UMLS:C0426891 xref: UMLS:C1867131 is_a: HP:0010055 ! Broad hallux [Term] id: HP:0005885 name: Absent ossification of cervical and thoracic vertebral bodies namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0205064 xref: UMLS:C0223199 xref: UMLS:C0332197 xref: UMLS:C1305451 is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies [Term] id: HP:0005886 name: Aphalangy, hands and feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0018563 xref: UMLS:C0347981 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand [Term] id: HP:0005888 name: Hypoplasia of fingers 1 and 5 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C0549188 is_a: HP:0009381 ! Hypoplastic/small fingers [Term] id: HP:0005889 name: Brachydactyly, toes and second metatarsal namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0221357 xref: UMLS:C0223984 is_a: HP:0001831 ! Brachydactyly (feet) [Term] id: HP:0005890 name: Hyperostosis cranialis interna namespace: medical_genetics def: "Bony overgrowth of the internal surface of the cranial base." [HPO:curators] xref: UMLS:C1840404 is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0005891 name: Progressive forearm curvature namespace: medical_genetics xref: UMLS:C0016536 xref: UMLS:C0205329 is_a: HP:0003956 ! Bowed forearm bones [Term] id: HP:0005892 name: Proximal tibial and fibular fusion namespace: medical_genetics xref: UMLS:C0016068 xref: UMLS:C0332466 xref: UMLS:C0588198 xref: UMLS:C1293131 is_a: HP:0005928 ! Synostosis involving the fibula is_a: HP:0005929 ! Synostosis involving the tibia [Term] id: HP:0005893 name: Spondyloepiphyseal dysplasia tarda namespace: medical_genetics xref: UMLS:C0220776 is_a: HP:0002655 ! Spondyloepiphyseal dysplasia [Term] id: HP:0005894 name: Double first metacarpals namespace: medical_genetics def: "Duplication of the metacarpal I bones." [HPO:curators] xref: UMLS:C0205173 xref: UMLS:C0223751 xref: UMLS:C0730131 xref: UMLS:C1705764 xref: UMLS:C1705765 is_a: HP:0005917 ! Supernumerary metacarpal bones [Term] id: HP:0005895 name: Radial deviation of thumb terminal phalanx namespace: medical_genetics xref: UMLS:C0040067 xref: UMLS:C0205088 xref: UMLS:C0449751 xref: UMLS:C0560733 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1705314 xref: UMLS:C1705315 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0005896 name: Widened, irregular, sclerotic metaphyses namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0205271 xref: UMLS:C0222671 xref: UMLS:C0332464 xref: UMLS:C0334135 is_a: HP:0005038 ! Widened, irregular metaphyses [Term] id: HP:0005897 name: Severe osteoporosis namespace: medical_genetics alt_id: HP:0005838 def: "Severe degree of osteoporosis." [HPO:curators] synonym: "Severe, generalized osteoporosis" EXACT [] xref: UMLS:C0205082 xref: UMLS:C0205246 xref: UMLS:C1519275 xref: UMLS:C1850194 xref: UMLS:C1859443 is_a: HP:0000939 ! Osteoporosis [Term] id: HP:0005898 name: Short first metacarpals and first metatarsals namespace: medical_genetics xref: UMLS:C0223976 xref: UMLS:C0459701 xref: UMLS:C1849311 is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0005899 name: Metaphyseal dysostosis namespace: medical_genetics xref: UMLS:C0265290 is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0005900 name: Fifth metacarpal notched on ulnar side namespace: medical_genetics xref: UMLS:C0205316 xref: UMLS:C0223783 xref: UMLS:C0441987 xref: UMLS:C0442044 xref: UMLS:C0730166 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0005901 name: Chronic recurrent multifocal osteomyelitis namespace: medical_genetics xref: UMLS:C0410422 is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0005902 name: Straight and short clavicles namespace: medical_genetics xref: UMLS:C0426807 xref: UMLS:C0445291 is_a: HP:0000894 ! Short clavicles [Term] id: HP:0005903 name: Longstanding, multiple, subcutaneous nodules namespace: medical_genetics xref: UMLS:C0151811 xref: UMLS:C0439064 is_a: HP:0001482 ! subcutaneous nodules [Term] id: HP:0005905 name: Abnormal cervical curvature namespace: medical_genetics def: "The presence of an `abnormal` (PATO:0000460) `curvature` (PATO:0001591) of the `cervical vertebral column` (FMA:24138)." [HPO:probinson] xref: UMLS:C0205064 xref: UMLS:C0333063 is_a: HP:0003319 ! Abnormality of the cervical spine is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0005906 name: Delayed pneumatization of the mastoid process namespace: medical_genetics def: "An abnormally reduced degree of pneumatization (i.e., formation of air cells) in the `mastoid process` (FMA:52872) with respect to age-dependent norms." [HPO:probinson] synonym: "Mastoid processes poorly pneumatized" EXACT [] xref: UMLS:C0205169 xref: UMLS:C0205421 xref: UMLS:C0446908 is_a: HP:0000264 ! Abnormality of the mastoid [Term] id: HP:0005907 name: Broad metatarsals and phalanges namespace: medical_genetics xref: UMLS:C0223792 xref: UMLS:C1842231 is_a: HP:0001783 ! Broad metatarsals [Term] id: HP:0005908 name: Diaphyseal bowing of long bones namespace: medical_genetics synonym: "Diaphyseal bowing" EXACT [] xref: UMLS:C0222647 xref: UMLS:C0242696 xref: UMLS:C0544755 xref: UMLS:C1282773 is_a: HP:0006504 ! Abnormality involving the diaphyses of the limbs [Term] id: HP:0005909 name: Short metacarpals and phalanges namespace: medical_genetics xref: UMLS:C0223792 xref: UMLS:C1837084 is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0005910 name: Rhomboid or triangular shaped 5th finger middle phalanx namespace: medical_genetics def: "Rhomboid or triangular shaped 5th (little) finger middle phalanx." [HPO:curators] synonym: "Rhomboid or triangular shaped fifth finger middle phalanx" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205121 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1260952 xref: UMLS:C1281584 is_a: HP:0009182 ! Triangular shaped middle phalanx of the 5th finger [Term] id: HP:0005912 name: Biliary duct atresia namespace: medical_genetics def: "`Atresia` (PATO:0001819) in of the `biliary tree` (FMA:14665)." [HPO:probinson] synonym: "Biliary atresia" EXACT [] xref: UMLS:C0005400 xref: UMLS:C0005411 xref: UMLS:C0243066 xref: UMLS:C0687028 xref: UMLS:C1267211 xref: UMLS:C1705650 xref: UMLS:C2119047 is_a: HP:0001080 ! Biliary tract abnormality created_by: peter creation_date: 2008-03-27T02:07:00Z [Term] id: HP:0005913 name: Abnormality of metacarpal epiphyses namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C1269064 xref: UMLS:C1704258 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 namespace: medical_genetics 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:C0025526 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1182937 xref: UMLS:C1269064 xref: UMLS:C1314939 xref: UMLS:C1836192 is_a: HP:0001163 ! Abnormality of the metacarpal bones 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 namespace: medical_genetics alt_id: HP:0010556 def: "Irregularly shaped metacarpal bones of varying degree." [HPO:curators] synonym: "Abnormal shape of metacarpal bones" EXACT [] xref: UMLS:C0025526 xref: UMLS:C0205161 xref: UMLS:C0332437 xref: UMLS:C0332482 xref: UMLS:C0543482 xref: UMLS:C0700329 xref: UMLS:C0700619 xref: UMLS:C1182937 xref: UMLS:C1269064 xref: UMLS:C2347472 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 namespace: medical_genetics def: "The presence of more than the normal number of metacarpal bones." [HPO:curators] xref: UMLS:C0545617 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 the phalanges of the hand namespace: medical_genetics alt_id: HP:0005786 alt_id: HP:0006259 comment: MERGED COMMENT:\nTARGET COMMENT: This category is a supercategory for abnormalties affect phalanges of the hand.\n--------------------\nSOURCE COMMENT: Abnormalities affecting the phalanges of the hands and/or those of the feet. synonym: "Abnormal form of phalanges of the hand" EXACT [] synonym: "Abnormality of the phalanges" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0439172 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704258 is_a: HP:0001167 ! Abnormality of the fingers 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 namespace: medical_genetics 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 [] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704258 is_a: HP:0005918 ! Abnormality of the phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0231557 xref: UMLS:C0448064 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 namespace: medical_genetics comment: This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions. xref: UMLS:C0018563 xref: UMLS:C0205161 xref: UMLS:C0332437 xref: UMLS:C0543482 xref: UMLS:C0700329 xref: UMLS:C0700619 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C2347472 is_a: HP:0001155 ! Abnormality of the hand created_by: peter creation_date: 2008-03-27T02:25:00Z [Term] id: HP:0005923 name: Abnormalities of the metaphyses of the hand namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0018563 xref: UMLS:C0222671 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0001155 ! Abnormality of the hand created_by: peter creation_date: 2008-03-27T02:27:00Z [Term] id: HP:0005924 name: Abnormality of the epiphyses of the hand namespace: medical_genetics def: "Any abnormality of the epiphyses of the phalanges or metacarpal bones." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0018563 xref: UMLS:C0242696 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0006504 ! Abnormality involving the diaphyses of the limbs created_by: peter creation_date: 2008-03-27T02:28:00Z [Term] id: HP:0005926 name: Abnormalities of the cortex of hand bones namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0007776 xref: UMLS:C0448064 xref: UMLS:C1176472 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0003103 ! Abnormality of cortical bone created_by: peter creation_date: 2008-03-27T02:29:00Z [Term] id: HP:0005927 name: Aplasia/Hypoplasia involving bones of the hand namespace: medical_genetics def: "Absence or underdevelopment of the bones of the hand." [HPO:curators] synonym: "Hypoplasia/Absence of hand bones" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0262950 xref: UMLS:C0334079 xref: UMLS:C0448064 xref: UMLS:C0543481 xref: UMLS:C1266909 xref: UMLS:C1281583 xref: UMLS:C1314939 xref: UMLS:C1552914 xref: UMLS:C1689985 xref: UMLS:C2107118 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 namespace: medical_genetics xref: UMLS:C0016068 xref: UMLS:C0039093 xref: UMLS:C0391889 xref: UMLS:C1281580 xref: UMLS:C1314939 xref: UMLS:C1368355 is_a: HP:0002991 ! Abnormality of the fibula is_a: HP:0009138 ! Synostosis involving bones of the lower limbs created_by: peter creation_date: 2008-03-27T02:34:00Z [Term] id: HP:0005929 name: Synostosis involving the tibia namespace: medical_genetics xref: UMLS:C0039093 xref: UMLS:C0040184 xref: UMLS:C0391889 xref: UMLS:C1279118 xref: UMLS:C1314939 xref: UMLS:C1368355 is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0009138 ! Synostosis involving bones of the lower limbs created_by: peter creation_date: 2008-03-27T02:34:00Z [Term] id: HP:0005930 name: Abnormality of the epiphyses namespace: medical_genetics alt_id: HP:0000936 synonym: "Epiphyseal abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C1704258 is_a: HP:0000924 ! Abnormality of the musculoskeletal system created_by: peter creation_date: 2008-03-27T03:00:00Z [Term] id: HP:0005932 name: Abnormal corticomedullary differentiation namespace: medical_genetics xref: UMLS:C0007589 xref: UMLS:C0205161 xref: UMLS:C1511938 xref: UMLS:C2347472 is_a: HP:0000077 ! Abnormality of the kidney created_by: peter creation_date: 2008-03-27T03:21:00Z [Term] id: HP:0005934 name: Imperfect vocal cord adduction namespace: medical_genetics xref: UMLS:C0042930 xref: UMLS:C0231457 xref: UMLS:C1280361 is_a: HP:0008777 ! Abnormality of the vocal cords [Term] id: HP:0005937 name: Respiratory function loss namespace: medical_genetics xref: UMLS:C0035203 xref: UMLS:C0035245 xref: UMLS:C1517945 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0005938 name: Ciliary dysgenesis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0015422 xref: UMLS:C1288305 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0005939 name: Multiple bilateral pneumothoraces namespace: medical_genetics xref: UMLS:C0032326 xref: UMLS:C0238767 xref: UMLS:C0439064 xref: UMLS:C1963215 is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0005941 name: Intermittent hyperpnea at rest namespace: medical_genetics xref: UMLS:C0035253 xref: UMLS:C0205267 xref: UMLS:C0220854 is_a: HP:0004879 ! intermittent hyperventilation [Term] id: HP:0005942 name: Desquamative interstitial pneumonitis namespace: medical_genetics xref: UMLS:C0238378 is_a: HP:0006530 ! Interstitial pulmonary disease [Term] id: HP:0005943 name: Respiratory arrest namespace: medical_genetics xref: UMLS:C0162297 is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0005944 name: Bilateral lung agenesis namespace: medical_genetics xref: UMLS:C0024109 xref: UMLS:C0238767 xref: UMLS:C0265780 xref: UMLS:C0332910 xref: UMLS:C1278908 is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0005945 name: Laryngeal obstruction namespace: medical_genetics xref: UMLS:C0264306 is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0005946 name: Ventilar dependence with inability to wean namespace: medical_genetics xref: UMLS:C0011546 xref: UMLS:C0043084 xref: UMLS:C0439857 is_a: HP:0004887 ! Respiratory failure requiring assisted ventilation [Term] id: HP:0005947 name: Decreased sensitivity to hypoxemia namespace: medical_genetics xref: UMLS:C0020580 xref: UMLS:C0700292 xref: UMLS:C1880261 xref: UMLS:C2348085 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0005948 name: Cystic lung disease namespace: medical_genetics xref: UMLS:C0010709 xref: UMLS:C0024109 xref: UMLS:C0024115 xref: UMLS:C0205207 xref: UMLS:C0334054 xref: UMLS:C1278908 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0005949 name: Apneic episodes in infancy namespace: medical_genetics def: "Recurrent episodes of apnea occurring during infancy." [HPO:curators] xref: UMLS:C0231330 xref: UMLS:C1838679 is_a: HP:0002104 ! Apnea [Term] id: HP:0005950 name: Partial laryngeal atresia namespace: medical_genetics xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1857462 is_a: HP:0008750 ! Laryngeal atresia [Term] id: HP:0005951 name: Progressive inspiratory stridor namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0677600 is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0005952 name: Decreased pulmonary function namespace: medical_genetics xref: UMLS:C0205216 xref: UMLS:C0231921 xref: UMLS:C0392756 xref: UMLS:C1547996 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0005953 name: Diminished diaphragmatic motion namespace: medical_genetics xref: UMLS:C0011980 xref: UMLS:C0026597 xref: UMLS:C0205216 is_a: HP:0000775 ! Abnormality of the diaphragm [Term] id: HP:0005954 name: Pulmonary capillary hemangiomatosis namespace: medical_genetics synonym: "Pulmonary hemangiomas" EXACT [] xref: UMLS:C0340548 xref: UMLS:C1860397 is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0005306 ! Capillary hemangiomas [Term] id: HP:0005956 name: Anteroposteriorly shortened larynx namespace: medical_genetics def: "Abnormal shortening of the `larynx` (FMA:55097) in the anteroposterior (front to back) axis." [HPO:probinson] xref: UMLS:C0023078 xref: UMLS:C1278904 xref: UMLS:C1282927 xref: UMLS:C2137050 is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0005957 name: Breathing dysregulation namespace: medical_genetics xref: UMLS:C1970802 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0005958 name: Absence of spontaneous respiration namespace: medical_genetics xref: UMLS:C0412771 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0005959 name: Impaired gluconeogenesis namespace: medical_genetics def: "An impairment of `gluconeogenesis` (GO:0006094)." [HPO:gcarletti] synonym: "Gluconeogenesis impaired" EXACT [] xref: UMLS:C0017715 xref: UMLS:C0221099 xref: UMLS:C0684336 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0005960 name: Mild lactic acidosis namespace: medical_genetics def: "A `mild` (PATO:0000394) form of `lactic acidemia` (HP:0003128)." [HPO:probinson] xref: UMLS:C0001125 xref: UMLS:C0547040 is_a: HP:0003128 ! Lactic acidosis [Term] id: HP:0005961 name: Hypoargininemia namespace: medical_genetics def: "A decreased concentration of `arginine` (CHEBI:29016) in the `blood` (FMA:9670)." [HPO:gcarletti] synonym: "Arginine deficiency" RELATED [] xref: UMLS:C1859735 is_a: HP:0010909 ! Abnormality of arginine metabolism [Term] id: HP:0005963 name: Recurrent episodes of acidosis namespace: medical_genetics xref: UMLS:C0001122 xref: UMLS:C0443287 is_a: HP:0001941 ! Acidosis [Term] id: HP:0005964 name: Intermittent hypothermia namespace: medical_genetics xref: UMLS:C1837639 is_a: HP:0002045 ! Hypothermia [Term] id: HP:0005967 name: Mixed respiratory and metabolic acidosis namespace: medical_genetics xref: UMLS:C0205430 xref: UMLS:C0220981 xref: UMLS:C0521346 xref: UMLS:C1546767 is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0005968 name: Temperature instability namespace: medical_genetics 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] xref: UMLS:C1820737 is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0005969 name: Hypoglycemia, hypoketotic namespace: medical_genetics xref: UMLS:C0020615 is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0005970 name: Hypothermia, episodic, in infants namespace: medical_genetics xref: UMLS:C0020672 xref: UMLS:C0021270 xref: UMLS:C0413252 xref: UMLS:C1455761 xref: UMLS:C2364050 is_a: HP:0002045 ! Hypothermia [Term] id: HP:0005971 name: Neonatal or infantile metabolic ketoacidosis namespace: medical_genetics xref: UMLS:C0021289 xref: UMLS:C0231330 xref: UMLS:C0311400 xref: UMLS:C0543508 xref: UMLS:C1524026 xref: UMLS:C1552240 xref: UMLS:C1552264 xref: UMLS:C1854704 is_a: HP:0001942 ! Metabolic acidosis is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005972 name: Respiratory acidosis namespace: medical_genetics xref: UMLS:C0001127 is_a: HP:0001941 ! Acidosis [Term] id: HP:0005973 name: Fructose intolerance namespace: medical_genetics xref: UMLS:C0016751 is_a: HP:0011033 ! Impairment of fructose metabolism [Term] id: HP:0005974 name: Ketoacidosis, episodic namespace: medical_genetics xref: UMLS:C0220982 xref: UMLS:C1455761 is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005975 name: Hyperaldosteronism namespace: medical_genetics xref: UMLS:C0020428 is_a: HP:0000859 ! Increased plasma aldosterone [Term] id: HP:0005976 name: Hyperkalemic metabolic acidosis namespace: medical_genetics xref: UMLS:C1865880 is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0005977 name: Hypochloremic metabolic alkalosis namespace: medical_genetics xref: UMLS:C0740895 is_a: HP:0001948 ! Alkalosis [Term] id: HP:0005978 name: Noninsulin-dependent diabetes mellitus namespace: medical_genetics alt_id: HP:0005965 def: "A metabolic abnormality characterized by high blood glucose caused by insulin resistance and relative insulin deficiency." [HPO:probinson] synonym: "Diabetes mellitus type 2" RELATED [] synonym: "Diabetes mellitus, noninsulin-dependent" EXACT [] synonym: "NIDDM diabetes mellitus" EXACT [] synonym: "Noninsulin-dependent diabetes" EXACT [] synonym: "Type II diabetes mellitus" RELATED [] xref: UMLS:C0011849 xref: UMLS:C0011860 xref: UMLS:C0851827 xref: UMLS:C1701901 is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0005979 name: Metabolic ketoacidosis namespace: medical_genetics xref: UMLS:C1854704 is_a: HP:0001942 ! Metabolic acidosis is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005981 name: Severe intermittent ketoacidosis namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0205267 xref: UMLS:C0220982 xref: UMLS:C1519275 is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005982 name: Reduced phenylalanine hydroxylase activity namespace: medical_genetics def: "A reduction in `phenylalanine 4-monooxygenase activity` (GO:0004505)." [HPO:probinson] synonym: "Phenylalanine hydroxylase deficiency" RELATED [] xref: UMLS:C0751434 xref: UMLS:C1418251 is_a: HP:0010893 ! Abnormality of phenylalanine metabolism [Term] id: HP:0005983 name: Episodic severe ketoacidosis namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1859860 is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005984 name: Elevated maternal serum alpha-fetoprotein namespace: medical_genetics def: "An elevation of alpha-feto protein in the maternal serum." [HPO:curators] xref: UMLS:C0740927 is_a: HP:0006254 ! Elevated alpha-fetoprotein [Term] id: HP:0005985 name: Elevated amniotic alpha-fetoprotein in affected fetuses with encephalocele namespace: medical_genetics xref: UMLS:C0002630 xref: UMLS:C0014065 xref: UMLS:C0015965 xref: UMLS:C0235971 xref: UMLS:C0392760 xref: UMLS:C1314939 is_a: HP:0004639 ! Elevated amniotic fluid alpha-fetoprotein [Term] id: HP:0005986 name: Limitation of neck motion namespace: medical_genetics xref: UMLS:C0026597 xref: UMLS:C0027530 xref: UMLS:C0449295 xref: UMLS:C1281592 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0005987 name: Multinodular goiter namespace: medical_genetics xref: UMLS:C0342208 is_a: HP:0000853 ! Goiter [Term] id: HP:0005988 name: Congenital muscular torticollis namespace: medical_genetics 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 [] xref: UMLS:C0009678 xref: UMLS:C0040485 xref: UMLS:C1744681 is_a: HP:0011006 ! Abnormality of the musculature of the neck [Term] id: HP:0005989 name: Redundant neck skin namespace: medical_genetics xref: UMLS:C1840319 is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0005990 name: Thyroid hypoplasia namespace: medical_genetics def: "Developmental hypoplasia of the `thyroid gland` (FMA:9603)." [HPO:probinson] synonym: "Hypoplastic thyroid" EXACT [] xref: UMLS:C0040132 xref: UMLS:C0279175 xref: UMLS:C0543481 xref: UMLS:C2228489 is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0005991 name: Limited neck flexion namespace: medical_genetics xref: UMLS:C1864449 is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0005993 name: Redundant skin over the neck namespace: medical_genetics xref: UMLS:C0027530 xref: UMLS:C0581342 xref: UMLS:C1281592 is_a: HP:0005989 ! Redundant neck skin [Term] id: HP:0005994 name: Nodular goiter namespace: medical_genetics xref: UMLS:C0018023 is_a: HP:0000853 ! Goiter [Term] id: HP:0005995 name: Decreased adipose tissue around neck namespace: medical_genetics synonym: "Loss of adipose tissue around the neck" EXACT [] xref: UMLS:C0001527 xref: UMLS:C0027530 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C1281592 xref: UMLS:C1517945 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0005996 name: Redundant skin folds of neck namespace: medical_genetics xref: UMLS:C0027530 xref: UMLS:C1281592 xref: UMLS:C1855241 is_a: HP:0005989 ! Redundant neck skin [Term] id: HP:0005997 name: Restricted neck movement due to contractures namespace: medical_genetics xref: UMLS:C0009917 xref: UMLS:C0026649 xref: UMLS:C0027530 xref: UMLS:C0443288 xref: UMLS:C1281592 is_a: HP:0001371 ! Contractures is_a: HP:0005986 ! Limitation of neck motion is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0005998 name: Severe ureteral reflux namespace: medical_genetics xref: UMLS:C1845574 is_a: HP:0000076 ! Vesicoureteral reflux [Term] id: HP:0005999 name: Ureteral atresia namespace: medical_genetics def: "The presence of `atretic` (PATO:0001819) `ureter` (FMA:9704)." [HPO:probinson] xref: UMLS:C1842055 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0006000 name: Ureteral obstruction namespace: medical_genetics def: "Obstruction of the flow of urine through the `ureter` (FMA:9704)." [HPO:probinson] xref: UMLS:C0041956 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0006004 name: Short third, fourth, fifth metacarpals namespace: medical_genetics xref: UMLS:C0205437 xref: UMLS:C0205438 xref: UMLS:C0223783 xref: UMLS:C0730166 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0006006 name: Hypotrophy of the small hand muscles namespace: medical_genetics xref: UMLS:C0026845 xref: UMLS:C0575802 xref: UMLS:C1995013 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0006008 name: Unilateral brachydactyly namespace: medical_genetics xref: UMLS:C1868164 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0006009 name: Widened phalanges namespace: medical_genetics xref: UMLS:C1855185 is_a: HP:0009768 ! Broad phalanges of the hand [Term] id: HP:0006010 name: Long, hyperextensible fingers namespace: medical_genetics def: "Abnormally long fingers with hyperextensible finger joints." [HPO:curators] xref: UMLS:C1858091 is_a: HP:0001166 ! Arachnodactyly is_a: HP:0001187 ! Hyperextensibility of the finger joints [Term] id: HP:0006011 name: Short, cuboidal metacarpals namespace: medical_genetics xref: UMLS:C1182671 xref: UMLS:C1837084 is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0006012 name: Widened metacarpal shaft namespace: medical_genetics xref: UMLS:C1850159 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006014 name: Abnormally shaped carpal bones namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0205161 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C2347472 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0006016 name: Severe delay in phalangeal epiphyseal bone maturation namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0205082 xref: UMLS:C0205421 xref: UMLS:C0222682 xref: UMLS:C0223792 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0870861 xref: UMLS:C1254042 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1519275 is_a: HP:0002663 ! Late ossifying epiphyses [Term] id: HP:0006017 name: Disproportionate shortening of 2nd and 3rd fingers namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205350 xref: UMLS:C0205436 xref: UMLS:C0205437 xref: UMLS:C0441636 xref: UMLS:C0549188 is_a: HP:0100667 ! Brachydactyly (hand) [Term] id: HP:0006019 name: Reduced proximal interphalangeal joint space namespace: medical_genetics xref: UMLS:C1861396 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006020 name: Absent carpal ossification center namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0332197 xref: UMLS:C1184744 xref: UMLS:C1305744 xref: UMLS:C1322271 is_a: HP:0004231 ! Absent carpal bones/absent ossification of the carpal bones [Term] id: HP:0006022 name: Ulnar deviation of 2nd, 3rd finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0205437 xref: UMLS:C0449752 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0005811 ! Ulnar deviation of index fingers is_a: HP:0009463 ! Ulnar deviation of the 3rd finger is_a: HP:0009464 ! Ulnar deviation of the 2nd finger [Term] id: HP:0006026 name: Rounded epiphyses namespace: medical_genetics xref: UMLS:C1850632 is_a: HP:0005924 ! Abnormality of the epiphyses of the hand [Term] id: HP:0006028 name: Metaphyseal cupping of metacarpals namespace: medical_genetics alt_id: HP:0006131 def: "Metaphyseal cupping affecting the metacarpal bones." [HPO:curators] synonym: "Metacarpal/metaphyseal cupping" EXACT [] xref: UMLS:C0025526 xref: UMLS:C1269064 xref: UMLS:C1837082 is_a: HP:0003021 ! Metaphyseal cupping [Term] id: HP:0006029 name: Small, irregular carpal bones namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C1863749 is_a: HP:0001498 ! Carpal bone hypoplasia [Term] id: HP:0006030 name: Short, wide phalanges namespace: medical_genetics alt_id: HP:0006249 def: "Abnormally short and broad (wide) phalanges." [HPO:curators] synonym: "Short, broad phalanges" EXACT [] xref: UMLS:C0332464 xref: UMLS:C1806781 xref: UMLS:C1837680 xref: UMLS:C1842230 xref: UMLS:C2350002 is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand [Term] id: HP:0006031 name: Aplasia/Hypoplastia of the interphalangeal creases namespace: medical_genetics def: "Absence or underdevelopment of the interphalangeal creases (i.e., of the transverse lines in the skin between the phalanges of the fingers)." [HPO:curators] synonym: "Hypoplastic or absent interphalangeal creases" EXACT [] xref: UMLS:C0243065 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0006035 name: Cone-shaped epiphyses of phalanges 2 to 5 namespace: medical_genetics xref: UMLS:C0223792 xref: UMLS:C1865037 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand [Term] id: HP:0006040 name: Long second metacarpal namespace: medical_genetics xref: UMLS:C1861531 is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal [Term] id: HP:0006042 name: Y-shaped metacarpals namespace: medical_genetics 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 is_a: HP:0009701 ! Synostosis involving the metacarpal bones [Term] id: HP:0006045 name: Short pointed phalanges namespace: medical_genetics xref: UMLS:C1849740 is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand [Term] id: HP:0006046 name: Pre- or postaxial polydactyly namespace: medical_genetics alt_id: HP:0006123 synonym: "Polydactyly, preaxial or postaxial" EXACT [] xref: UMLS:C0152427 xref: UMLS:C0205109 xref: UMLS:C0205110 xref: UMLS:C0220697 xref: UMLS:C0332152 xref: UMLS:C0740175 xref: UMLS:C2117329 xref: UMLS:C2257086 is_a: HP:0010442 ! Polydactyly [Term] id: HP:0006047 name: Mild shortening of metacarpals namespace: medical_genetics alt_id: HP:0006186 synonym: "Mild shortened metacarpals" EXACT [] xref: UMLS:C0025526 xref: UMLS:C0441636 xref: UMLS:C0547040 xref: UMLS:C1857633 is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0006048 name: Distal widening of metacarpals namespace: medical_genetics def: "Abnormal increase in width of the distal region of the metacarpal bones." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C0205108 xref: UMLS:C0332464 is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006051 name: Metacarpal periosteal thickening namespace: medical_genetics xref: UMLS:C1834347 is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006055 name: Ulnar deviated club hands namespace: medical_genetics xref: UMLS:C1833881 is_a: HP:0009487 ! Ulnar deviation of the hand [Term] id: HP:0006058 name: Cone-shaped epiphyses of middle and proximal phalanges namespace: medical_genetics xref: UMLS:C0444598 xref: UMLS:C0576462 xref: UMLS:C1552826 xref: UMLS:C1865037 is_a: HP:0010259 ! Cone-shaped epiphyses of the middle phalanges of the hand is_a: HP:0010270 ! Cone-shaped epiphyses of the proximal phalanges of the hand [Term] id: HP:0006059 name: Cone-shaped metacarpal epiphyses namespace: medical_genetics 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:C0025526 xref: UMLS:C1269064 xref: UMLS:C1855239 xref: UMLS:C1865037 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010579 ! Cone-shaped epiphyses [Term] id: HP:0006060 name: Tombstone-shaped proximal phalanges namespace: medical_genetics xref: UMLS:C0205107 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0522512 is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand [Term] id: HP:0006062 name: 5th finger clino-camptodactyly namespace: medical_genetics xref: UMLS:C1861371 is_a: HP:0009183 ! Joint contractures of the 5th finger [Term] id: HP:0006064 name: Limited interphalangeal movement namespace: medical_genetics xref: UMLS:C1840089 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0006065 name: Short, broad metacarpals namespace: medical_genetics alt_id: HP:0006024 def: "Abnormally short and broad metacarpal bones." [HPO:curators] synonym: "Short, wide metacarpals" EXACT [] xref: UMLS:C0332464 xref: UMLS:C1806781 xref: UMLS:C1837084 xref: UMLS:C1842229 xref: UMLS:C2350002 is_a: HP:0001230 ! Broad metacarpals is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0006067 name: Multiple carpal ossification centers namespace: medical_genetics xref: UMLS:C1835573 is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0006069 name: Severe carpal ossification delay namespace: medical_genetics xref: UMLS:C1866703 is_a: HP:0001216 ! Delayed maturation/delayed ossification of carpal bones is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0006070 name: Metacarpal/phalangeal joint contractures, severe namespace: medical_genetics xref: UMLS:C0009918 xref: UMLS:C0025526 xref: UMLS:C0205082 xref: UMLS:C0222682 xref: UMLS:C0223792 xref: UMLS:C1269064 xref: UMLS:C1519275 is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0100490 ! Camptodactyly (hands) [Term] id: HP:0006072 name: Small, irregular carpals namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C1855184 is_a: HP:0004236 ! Irregular carpal bones [Term] id: HP:0006073 name: Short, broad proximal phalanx of thumb namespace: medical_genetics def: "This term applies if the proximal phalanx of the thumb is short and broad 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] xref: UMLS:C0040067 xref: UMLS:C0332464 xref: UMLS:C1269613 xref: UMLS:C1860606 is_a: HP:0009630 ! Broad proximal phalanx of the thumb is_a: HP:0009638 ! Hypoplastic/small proximal phalanx of the thumb [Term] id: HP:0006077 name: Absent proximal finger flexion creases namespace: medical_genetics xref: UMLS:C1850048 is_a: HP:0006031 ! Aplasia/Hypoplastia of the interphalangeal creases [Term] id: HP:0006078 name: Ivory and cone-shaped epiphyses namespace: medical_genetics xref: UMLS:C1865037 is_a: HP:0005924 ! Abnormality of the epiphyses of the hand is_a: HP:0010579 ! Cone-shaped epiphyses [Term] id: HP:0006081 name: Short/broad middle phalanges namespace: medical_genetics xref: UMLS:C0444598 xref: UMLS:C1552826 xref: UMLS:C1806781 xref: UMLS:C1842230 xref: UMLS:C2350002 is_a: HP:0010240 ! Hypoplasia of the middle phalanges of the hand [Term] id: HP:0006082 name: Absent distal and middle phalanges namespace: medical_genetics xref: UMLS:C0205108 xref: UMLS:C0332197 xref: UMLS:C0576463 is_a: HP:0005807 ! Absent distal phalanges [Term] id: HP:0006083 name: Variable fifth finger clinodactyly namespace: medical_genetics xref: UMLS:C1862143 is_a: HP:0004209 ! Clinodactyly of the 5th finger [Term] id: HP:0006084 name: Aplastic carpal bone namespace: medical_genetics xref: UMLS:C1848667 is_a: HP:0004231 ! Absent carpal bones/absent ossification of the carpal bones [Term] id: HP:0006086 name: Thin metacarpal cortices namespace: medical_genetics xref: UMLS:C1850160 is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006088 name: 1-5 finger complete cutaneous syndactyly namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1861921 is_a: HP:0010554 ! Cutaneous syndactyly of the fingers is_a: HP:0010621 ! Cutaneous syndactyly of the toes [Term] id: HP:0006089 name: Palmar hyperhidrosis namespace: medical_genetics xref: UMLS:C1856953 is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0006092 name: Malaligned carpal bone namespace: medical_genetics 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 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0006093 name: Progressive brachydactyly of middle and distal phalanges namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0221357 xref: UMLS:C0444598 xref: UMLS:C0576464 xref: UMLS:C1552826 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0006094 name: Finger joint hypermobility namespace: medical_genetics xref: UMLS:C0574974 is_a: HP:0006256 ! Abnormality of hand joint mobility [Term] id: HP:0006095 name: Wide tufts of distal phalanges namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0576464 is_a: HP:0006200 ! Widened distal phalanges [Term] id: HP:0006097 name: 3-4 finger syndactyly namespace: medical_genetics alt_id: HP:0006133 def: "`Syndactyly` (HP:0001159) with fusion of fingers three and four." [HPO:sdoelken] synonym: "Partial or complete syndactyly 3rd-4th fingers" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205197 xref: UMLS:C0205437 xref: UMLS:C0205438 xref: UMLS:C0221352 xref: UMLS:C0549188 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C2117411 is_a: HP:0006101 ! Finger syndactyly [Term] id: HP:0006098 name: Slender, tapering fingers namespace: medical_genetics alt_id: HP:0006244 synonym: "Thin, tapering fingers" EXACT [] xref: UMLS:C0205168 xref: UMLS:C0426886 xref: UMLS:C0441640 xref: UMLS:C1548969 xref: UMLS:C1839800 is_a: HP:0001182 ! Tapered fingers [Term] id: HP:0006099 name: Metacarpophalangeal joint hyperextensibility namespace: medical_genetics xref: UMLS:C1969542 is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006101 name: Finger syndactyly namespace: medical_genetics 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 xref: UMLS:C1849671 is_a: HP:0001159 ! Syndactyly [Term] id: HP:0006105 name: Eburnated epiphyses of distal phalanges namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0576464 is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanges of the hand [Term] id: HP:0006106 name: Absent trapezoid bone namespace: medical_genetics xref: UMLS:C1847191 is_a: HP:0004256 ! Abnormality of the trapezoid bone [Term] id: HP:0006107 name: Fingerpad telangiectases namespace: medical_genetics 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 xref: UMLS:C1861248 is_a: HP:0100585 ! Teleangiectasia of the skin [Term] id: HP:0006108 name: Short, tapered metacarpals namespace: medical_genetics xref: UMLS:C0441640 xref: UMLS:C1548969 xref: UMLS:C1837084 is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0006109 name: Aplasia of the interphalangeal creases namespace: medical_genetics def: "Absence of the interphalangeal creases of the fingers." [HPO:curators] synonym: "Absent phalangeal creases" RELATED [] xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1862479 is_a: HP:0006031 ! Aplasia/Hypoplastia of the interphalangeal creases [Term] id: HP:0006110 name: Disproportionately short middle phalanges namespace: medical_genetics xref: UMLS:C1856912 is_a: HP:0010240 ! Hypoplasia of the middle phalanges of the hand [Term] id: HP:0006112 name: Expanded phalanges with widened medullary cavities namespace: medical_genetics xref: UMLS:C0205229 xref: UMLS:C0223792 xref: UMLS:C0332464 xref: UMLS:C1186736 is_a: HP:0009768 ! Broad phalanges of the hand [Term] id: HP:0006114 name: Multiple palmar creases namespace: medical_genetics xref: UMLS:C1861872 is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0006115 name: Brachydactyly e-like changes namespace: medical_genetics xref: UMLS:C0221357 xref: UMLS:C0392747 xref: UMLS:C1705241 is_a: HP:0005863 ! Type E brachydactyly [Term] id: HP:0006116 name: Symphalangism, proximal and distal namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0205107 xref: UMLS:C0205108 is_a: HP:0009700 ! Synostosis involving bones of the fingers [Term] id: HP:0006118 name: Hypoplastic distal and middle phalanges namespace: medical_genetics alt_id: HP:0005658 synonym: "Distal and middle phalangeal hypoplasia" EXACT [] xref: UMLS:C0205108 xref: UMLS:C0444598 xref: UMLS:C0543481 xref: UMLS:C0576463 xref: UMLS:C0877165 xref: UMLS:C1552826 is_a: HP:0009882 ! Hypoplasia of the distal phalanges of the hand [Term] id: HP:0006119 name: Proximal tapering of metacarpals namespace: medical_genetics def: "Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance." [HPO:sdoelken] synonym: "Pointed proximal metacarpals " EXACT [HPO:sdoelken] xref: UMLS:C0025526 xref: UMLS:C0205107 xref: UMLS:C0441640 xref: UMLS:C1548969 xref: UMLS:C1854749 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006120 name: Small 3rd and 4th metacarpals namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0205437 xref: UMLS:C0205438 xref: UMLS:C0700321 is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0006121 name: Acral ulceration leading to autoamputation of digits namespace: medical_genetics xref: UMLS:C0332152 xref: UMLS:C0582802 xref: UMLS:C1522538 xref: UMLS:C1833222 xref: UMLS:C1837604 is_a: HP:0007460 ! Autoamputation of digits [Term] id: HP:0006125 name: Long tapered fingers namespace: medical_genetics alt_id: HP:0006032 alt_id: HP:0006080 synonym: "Long, tapered fingers" EXACT [] synonym: "Long, tapering fingers" EXACT [] xref: UMLS:C1969247 is_a: HP:0001182 ! Tapered fingers [Term] id: HP:0006127 name: Long, slender middle and proximal phalanges namespace: medical_genetics xref: UMLS:C0205166 xref: UMLS:C0444598 xref: UMLS:C0576462 xref: UMLS:C1552826 xref: UMLS:C1706317 is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand [Term] id: HP:0006128 name: Brachydactyly, complex namespace: medical_genetics xref: UMLS:C0221357 xref: UMLS:C0439855 is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0006129 name: 'Drumstick' terminal phalanges namespace: medical_genetics xref: UMLS:C0576464 is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand [Term] id: HP:0006134 name: Enlarged metacarpal epiphyses namespace: medical_genetics def: "Abnormally large size of the metaphyseal epiphyses." [HPO:curators] xref: UMLS:C1865035 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0006135 name: Decreased finger mobility namespace: medical_genetics xref: UMLS:C1862133 is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0006136 name: Bilateral postaxial polydactyly namespace: medical_genetics xref: UMLS:C1855003 is_a: HP:0001162 ! Postaxial polydactyly (hands) [Term] id: HP:0006137 name: Finger and wrist contractures namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1850646 is_a: HP:0001239 ! Wrist contractures is_a: HP:0009473 ! Joint contractures involving the joints of the hand [Term] id: HP:0006140 name: Premature fusion of phalangeal epiphyses namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0205252 xref: UMLS:C0222682 xref: UMLS:C0223792 xref: UMLS:C0332466 xref: UMLS:C1293131 is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010656 ! Abnormality of the mineralisation or ossification of the epiphyses [Term] id: HP:0006141 name: Short 1st, 4th, 5th metacarpals namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C0205438 xref: UMLS:C0205439 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0006143 name: Abnormal finger flexion creases namespace: medical_genetics xref: UMLS:C1859481 is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0006144 name: Short proximal and middle phalanges namespace: medical_genetics alt_id: HP:0006021 synonym: "Short proximal and medial phalanges" EXACT [] xref: UMLS:C0205098 xref: UMLS:C0205107 xref: UMLS:C0223792 xref: UMLS:C0576463 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0010240 ! Hypoplasia of the middle phalanges of the hand is_a: HP:0010241 ! Hypoplasia of the proximal phalanges of the hand [Term] id: HP:0006145 name: Central Y-shaped metacarpal namespace: medical_genetics 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 is_a: HP:0006042 ! Y-shaped metacarpals [Term] id: HP:0006146 name: Thin metacarpals with broad epiphyses namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0205168 xref: UMLS:C0332464 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses [Term] id: HP:0006147 name: Progressive fusion 2nd-5th pip joints namespace: medical_genetics xref: UMLS:C1861310 is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0006149 name: Increased laxity of fingers namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0332537 xref: UMLS:C0549188 is_a: HP:0006094 ! Finger joint hypermobility [Term] id: HP:0006150 name: Swan neck-like deformities of the fingers namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0158477 xref: UMLS:C0549188 xref: UMLS:C0870814 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0006151 name: Thumb brachydactyly namespace: medical_genetics xref: UMLS:C1861393 is_a: HP:0100667 ! Brachydactyly (hand) [Term] id: HP:0006152 name: Proximal symphalangism (hands) namespace: medical_genetics 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 [] xref: UMLS:C0039093 xref: UMLS:C0932508 xref: UMLS:C1861385 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 namespace: medical_genetics xref: UMLS:C0007285 is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0006155 name: Wide and elongated phalanges namespace: medical_genetics xref: UMLS:C0223792 xref: UMLS:C0332464 is_a: HP:0006009 ! Widened phalanges [Term] id: HP:0006156 name: Ulnar deviation of 1st, 3rd fingers namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205435 xref: UMLS:C0205437 xref: UMLS:C0449752 xref: UMLS:C0549188 is_a: HP:0009465 ! Ulnar deviation of fingers [Term] id: HP:0006157 name: Prominent palmar flexion creases namespace: medical_genetics xref: UMLS:C1865131 is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0006158 name: Finger joint hyperextensibility namespace: medical_genetics xref: UMLS:C1844577 is_a: HP:0006094 ! Finger joint hypermobility [Term] id: HP:0006159 name: Central polydactyly (hands) namespace: medical_genetics alt_id: HP:0001496 alt_id: HP:0004056 synonym: "Interdigital polydactyly (hand)" EXACT [] synonym: "Mesoaxial polydactyly" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0152427 xref: UMLS:C0442105 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1848595 xref: UMLS:C1856011 xref: UMLS:C2117329 is_a: HP:0001161 ! Polydactyly (hands) is_a: HP:0100260 ! Central polydactyly [Term] id: HP:0006160 name: Hypoplastic, irregular metacarpals namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0205271 xref: UMLS:C0543481 is_a: HP:0005916 ! Abnormal metacarpal morphology is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0006161 name: Short metacarpals with rounded proximal ends namespace: medical_genetics xref: UMLS:C0205107 xref: UMLS:C0332490 xref: UMLS:C0444930 xref: UMLS:C1522314 xref: UMLS:C1837084 is_a: HP:0010049 ! Hypoplastic/short metacarpal bones [Term] id: HP:0006162 name: Soft tissue swelling of interphalangeal joints namespace: medical_genetics xref: UMLS:C0037580 xref: UMLS:C1563055 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006163 name: Enlarged metacarpophalangeal joints namespace: medical_genetics xref: UMLS:C1859700 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006165 name: Proportionate shortening of all digits namespace: medical_genetics xref: UMLS:C0205351 xref: UMLS:C0441636 xref: UMLS:C0582802 is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers [Term] id: HP:0006166 name: Tubular metacarpal bones namespace: medical_genetics xref: UMLS:C1859369 is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006167 name: Prominent proximal interphalangeal joints namespace: medical_genetics xref: UMLS:C0205107 xref: UMLS:C1859115 is_a: HP:0006237 ! Prominent interphalangeal joints [Term] id: HP:0006168 name: 'Chubby' proximal phalanges namespace: medical_genetics xref: UMLS:C1843501 is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand [Term] id: HP:0006169 name: Decreased mobility 3rd-5th fingers namespace: medical_genetics xref: UMLS:C1833882 is_a: HP:0006135 ! Decreased finger mobility [Term] id: HP:0006170 name: 'Chess-pawn' distal phalanges namespace: medical_genetics xref: UMLS:C1862097 is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand [Term] id: HP:0006171 name: Fifth digit middle or distal phalangeal hypoplasia namespace: medical_genetics xref: UMLS:C0230403 xref: UMLS:C0444598 xref: UMLS:C1552826 xref: UMLS:C1839284 is_a: HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger is_a: HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger [Term] id: HP:0006172 name: Flattened, squared-off epiphyses of tubular bones namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0016203 xref: UMLS:C0151747 xref: UMLS:C0205120 xref: UMLS:C0262950 xref: UMLS:C0332208 xref: UMLS:C1266909 is_a: HP:0003053 ! Epiphyseal deformities of tubular bones is_a: HP:0003071 ! Flattened epiphyses [Term] id: HP:0006173 name: Contractures of the hands, mild namespace: medical_genetics xref: UMLS:C0009917 xref: UMLS:C0018563 xref: UMLS:C0547040 is_a: HP:0009473 ! Joint contractures involving the joints of the hand [Term] id: HP:0006174 name: Metacarpal diaphyseal endosteal sclerosis namespace: medical_genetics xref: UMLS:C1840419 is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0010660 ! Abnormality of the mineralisation and ossification of bones of the hand is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0006175 name: Proximal phalangeal periosteal thickening namespace: medical_genetics xref: UMLS:C1834348 is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand [Term] id: HP:0006176 name: Two carpal ossification centers present at birth namespace: medical_genetics xref: UMLS:C0005615 xref: UMLS:C0007285 xref: UMLS:C0150312 xref: UMLS:C0205448 xref: UMLS:C0449450 xref: UMLS:C1184744 xref: UMLS:C1305744 xref: UMLS:C1322271 xref: UMLS:C1550722 is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0006179 name: Pseudoepiphyses of second metacarpal namespace: medical_genetics xref: UMLS:C0223758 xref: UMLS:C0730163 xref: UMLS:C1841685 is_a: HP:0009193 ! Pseudoepiphyses of the metacarpals [Term] id: HP:0006180 name: Crowded carpal bones namespace: medical_genetics xref: UMLS:C1863317 is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0006181 name: Clinodactyly, 3,5 finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0265610 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009466 ! Radial deviation of fingers [Term] id: HP:0006184 name: Hypoplastic palmar creases namespace: medical_genetics alt_id: HP:0006178 synonym: "Poorly formed palmar creases" EXACT [] xref: UMLS:C1857483 xref: UMLS:C1862480 is_a: HP:0010488 ! Aplasia/Hypoplasia of the palmar creases [Term] id: HP:0006185 name: Enlarged proximal interphalangeal joints namespace: medical_genetics xref: UMLS:C1861350 is_a: HP:0006247 ! Enlarged interphalangeal joints [Term] id: HP:0006187 name: Fusion of midphalangeal joints namespace: medical_genetics xref: UMLS:C0022417 xref: UMLS:C0332466 xref: UMLS:C0392905 xref: UMLS:C1293131 is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0006189 name: Prominent interdigital folds namespace: medical_genetics xref: UMLS:C0185026 xref: UMLS:C0205402 xref: UMLS:C0332462 xref: UMLS:C0442105 xref: UMLS:C1880834 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0006190 name: Radially deviated wrists namespace: medical_genetics xref: UMLS:C1861316 is_a: HP:0009486 ! Radial deviation of the hand [Term] id: HP:0006191 name: Deep palmar creases namespace: medical_genetics def: "An increased depth of the palmar creases." [HPO:curators] xref: UMLS:C1857539 is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0006192 name: Short, tapered phalanges namespace: medical_genetics xref: UMLS:C0441640 xref: UMLS:C1548969 xref: UMLS:C1837680 is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand [Term] id: HP:0006193 name: Broad, thimble-like middle phalanges namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0576463 is_a: HP:0009768 ! Broad phalanges of the hand [Term] id: HP:0006194 name: Separate triphalangeal thumb namespace: medical_genetics xref: UMLS:C0241397 xref: UMLS:C0443299 is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0006195 name: Severe camptodactyly namespace: medical_genetics xref: UMLS:C1866489 is_a: HP:0100490 ! Camptodactyly (hands) [Term] id: HP:0006196 name: Bifid terminal phalanges digits 2 and 3 namespace: medical_genetics xref: UMLS:C0582802 xref: UMLS:C1849343 is_a: HP:0009883 ! Partial/complete duplication of the distal phalanges of the hand [Term] id: HP:0006199 name: Short, broad distal phalanges namespace: medical_genetics alt_id: HP:0006076 synonym: "Short, broad distal phalanges, especially thumbs" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0205555 xref: UMLS:C0332464 xref: UMLS:C1806781 xref: UMLS:C1839829 xref: UMLS:C1850630 xref: UMLS:C2350002 is_a: HP:0009882 ! Hypoplasia of the distal phalanges of the hand [Term] id: HP:0006200 name: Widened distal phalanges namespace: medical_genetics xref: UMLS:C1862421 is_a: HP:0006009 ! Widened phalanges [Term] id: HP:0006201 name: Hypermobility of distal interphalangeal joints namespace: medical_genetics xref: UMLS:C0549185 xref: UMLS:C0932510 is_a: HP:0005620 ! Hypermobility of interphalangeal joints [Term] id: HP:0006202 name: Osteolysis of scaphoids namespace: medical_genetics xref: UMLS:C0029435 xref: UMLS:C0223724 xref: UMLS:C0332500 xref: UMLS:C1306528 is_a: HP:0002797 ! Osteolysis is_a: HP:0004243 ! Abnormality of the scaphoid is_a: HP:0010660 ! Abnormality of the mineralisation and ossification of bones of the hand [Term] id: HP:0006203 name: Decreased movement range in interphalangeal joints namespace: medical_genetics xref: UMLS:C0026649 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C1514721 xref: UMLS:C1563055 xref: UMLS:C2348147 is_a: HP:0006135 ! Decreased finger mobility is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0006204 name: Disharmonic maturation of phalanges and carpal bones namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0223792 xref: UMLS:C0870861 xref: UMLS:C1254042 is_a: HP:0004053 ! Dysharmonic maturation of the hand bones [Term] id: HP:0006205 name: Short, irregular phalanges namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C1837680 is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand [Term] id: HP:0006206 name: Hypersegmentation of proximal and middle 2nd, 3rd phalanges namespace: medical_genetics xref: UMLS:C0205107 xref: UMLS:C0205436 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0266309 xref: UMLS:C0427516 xref: UMLS:C0444598 xref: UMLS:C1552826 is_a: HP:0005918 ! Abnormality of the phalanges of the hand [Term] id: HP:0006207 name: Partial fusion of carpals namespace: medical_genetics xref: UMLS:C0007285 xref: UMLS:C0332466 xref: UMLS:C0728938 xref: UMLS:C1293131 xref: UMLS:C1322271 xref: UMLS:C1550516 is_a: HP:0009702 ! Synostosis involving the carpal bones [Term] id: HP:0006208 name: Metaphyseal cupping of proximal phalanges namespace: medical_genetics def: "Metaphyseal cupping affecting the proximal phalanges." [HPO:curators] xref: UMLS:C0576462 xref: UMLS:C1837082 is_a: HP:0003021 ! Metaphyseal cupping [Term] id: HP:0006209 name: Partial-complete absence of 5th phalanges namespace: medical_genetics xref: UMLS:C0205197 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger [Term] id: HP:0006210 name: Postaxial oligodactyly namespace: medical_genetics xref: UMLS:C1867927 is_a: HP:0001180 ! Oligodactyly (hands) [Term] id: HP:0006211 name: Short 4th-5th fingers namespace: medical_genetics xref: UMLS:C1862164 is_a: HP:0100667 ! Brachydactyly (hand) [Term] id: HP:0006212 name: Short 2nd, 3rd middle phalanges namespace: medical_genetics xref: UMLS:C0205436 xref: UMLS:C0205437 xref: UMLS:C0576463 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0010240 ! Hypoplasia of the middle phalanges of the hand [Term] id: HP:0006213 name: Thin proximal phalanges with broad epiphyses namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0205107 xref: UMLS:C0205168 xref: UMLS:C0223792 xref: UMLS:C0332464 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 namespace: medical_genetics xref: UMLS:C0037179 xref: UMLS:C0087136 xref: UMLS:C0205171 xref: UMLS:C0230403 is_a: HP:0006031 ! Aplasia/Hypoplastia of the interphalangeal creases [Term] id: HP:0006217 name: Limited mobility of proximal interphalangeal joint namespace: medical_genetics xref: UMLS:C0700572 xref: UMLS:C0932508 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006218 name: Mild finger contractures namespace: medical_genetics xref: UMLS:C1856952 is_a: HP:0100490 ! Camptodactyly (hands) [Term] id: HP:0006224 name: Tapered, pointed distal phalanges namespace: medical_genetics xref: UMLS:C0441640 xref: UMLS:C0576464 xref: UMLS:C1548969 xref: UMLS:C1552961 xref: UMLS:C2347617 is_a: HP:0009884 ! Tapered distal phalanges of the hand [Term] id: HP:0006226 name: Osteoarthritis of the first carpometacarpal joint namespace: medical_genetics xref: UMLS:C0029408 xref: UMLS:C0205435 xref: UMLS:C0224620 xref: UMLS:C1279901 xref: UMLS:C1321524 is_a: HP:0004268 ! Osteoarthritis of the small joints of the hand [Term] id: HP:0006227 name: Small, irregular carpal centers namespace: medical_genetics xref: UMLS:C0205099 xref: UMLS:C0205271 xref: UMLS:C1855184 is_a: HP:0004236 ! Irregular carpal bones [Term] id: HP:0006228 name: Valgus hand deformity namespace: medical_genetics xref: UMLS:C1860179 is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0006230 name: Unilateral oligodactyly namespace: medical_genetics xref: UMLS:C1868165 is_a: HP:0001180 ! Oligodactyly (hands) [Term] id: HP:0006232 name: Expanded metacarpals with widened medullary cavities namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0205229 xref: UMLS:C0332464 xref: UMLS:C1186736 is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006233 name: Osteoarthritis of the distal interphalangeal joint namespace: medical_genetics xref: UMLS:C0029408 xref: UMLS:C0932510 is_a: HP:0004268 ! Osteoarthritis of the small joints of the hand [Term] id: HP:0006234 name: Osteolysis involving tarsal bones namespace: medical_genetics 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:C0029435 xref: UMLS:C0039316 xref: UMLS:C1314939 xref: UMLS:C1833735 xref: UMLS:C1854613 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: Long, slender metacarpals namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0205166 xref: UMLS:C1706317 is_a: HP:0010493 ! Increased length of metacarpals [Term] id: HP:0006237 name: Prominent interphalangeal joints namespace: medical_genetics xref: UMLS:C1859115 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006239 name: Brachymesophalangy of hands and feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0018563 xref: UMLS:C0347981 xref: UMLS:C1843680 is_a: HP:0001831 ! Brachydactyly (feet) is_a: HP:0100667 ! Brachydactyly (hand) [Term] id: HP:0006241 name: Broad, square ends of distal phalanges namespace: medical_genetics xref: UMLS:C0205120 xref: UMLS:C0332464 xref: UMLS:C0444930 xref: UMLS:C0576464 xref: UMLS:C1522314 is_a: HP:0009768 ! Broad phalanges of the hand [Term] id: HP:0006243 name: Phalangeal dislocations namespace: medical_genetics xref: UMLS:C0012691 xref: UMLS:C0222682 xref: UMLS:C0223792 is_a: HP:0005918 ! Abnormality of the phalanges of the hand [Term] id: HP:0006245 name: Fifth finger single interphalangeal crease namespace: medical_genetics xref: UMLS:C1850336 is_a: HP:0006031 ! Aplasia/Hypoplastia of the interphalangeal creases [Term] id: HP:0006247 name: Enlarged interphalangeal joints namespace: medical_genetics xref: UMLS:C1859701 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 namespace: medical_genetics def: "An abnormal limitation of the mobility of the wrist." [HPO:curators] xref: UMLS:C1840088 is_a: HP:0003019 ! Abnormality of the wrist is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0006251 name: Limited wrist extension namespace: medical_genetics xref: UMLS:C1862481 is_a: HP:0006248 ! Limited wrist movement [Term] id: HP:0006252 name: Interphalangeal joint erosions namespace: medical_genetics xref: UMLS:C1850158 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006253 name: Swelling of proximal interphalangeal joints namespace: medical_genetics xref: UMLS:C0013604 xref: UMLS:C0038999 xref: UMLS:C0932508 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006254 name: Elevated alpha-fetoprotein namespace: medical_genetics def: "An `increased concentration` (PATO:0001162) of `alpha-fetoprotein`(PRO:000003809)." [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: "Increased levels of alpha fetoprotein" EXACT [] synonym: "Increased serum alpha-fetoprotein" EXACT [] synonym: "Serum alpha-fetoprotein increased" EXACT [] xref: UMLS:C0002210 xref: UMLS:C0201539 xref: UMLS:C0205217 xref: UMLS:C0235971 xref: UMLS:C0373538 xref: UMLS:C0441889 xref: UMLS:C0442805 xref: UMLS:C0546833 xref: UMLS:C1367597 xref: UMLS:C1853777 is_a: HP:0010876 ! Abnormality of circulating protein level created_by: peter creation_date: 2008-03-28T09:17:00Z [Term] id: HP:0006256 name: Abnormality of hand joint mobility namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0018563 xref: UMLS:C0425245 xref: UMLS:C0449580 xref: UMLS:C0459470 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704258 xref: UMLS:C1820723 is_a: HP:0001155 ! Abnormality of the hand created_by: peter creation_date: 2008-03-28T10:14:00Z [Term] id: HP:0006257 name: Abnormality of carpal bone ossification namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0007285 xref: UMLS:C0029433 xref: UMLS:C0242416 xref: UMLS:C1322271 xref: UMLS:C1704258 is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0010660 ! Abnormality of the mineralisation and ossification of bones of the hand created_by: peter creation_date: 2008-03-28T02:29:00Z [Term] id: HP:0006261 name: Abnormality of phalangeal joints of the hand namespace: medical_genetics alt_id: HP:0004266 synonym: "Abnormality of the small joints of the hand" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0018563 xref: UMLS:C0022417 xref: UMLS:C0222682 xref: UMLS:C0223792 xref: UMLS:C0392905 xref: UMLS:C0700321 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704258 is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: peter creation_date: 2008-03-28T02:55:00Z [Term] id: HP:0006262 name: Aplasia/Hypoplasia of the 5th finger namespace: medical_genetics def: "A small/hypoplastic or absent/aplastic 5th finger." [HPO:sdoelken] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 2nd finger." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics def: "A small/hypoplastic or absent/aplastic 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Small/hypoplastic or absent/aplastic fingers." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0549188 is_a: HP:0001167 ! Abnormality of the fingers 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 or abnormal placenta namespace: medical_genetics xref: UMLS:C0700321 xref: UMLS:C1306893 is_a: HP:0001194 ! Abnormalities of placenta and umbilical cord [Term] id: HP:0006267 name: Placental enlargement namespace: medical_genetics xref: UMLS:C1855338 is_a: HP:0001194 ! Abnormalities of placenta and umbilical cord [Term] id: HP:0006268 name: Fluctuating splenomegaly namespace: medical_genetics xref: UMLS:C1835882 is_a: HP:0001744 ! Splenomegaly [Term] id: HP:0006269 name: Minimal splenomegaly namespace: medical_genetics xref: UMLS:C1854929 is_a: HP:0001745 ! Mild splenomegaly [Term] id: HP:0006270 name: Hypoplastic spleen namespace: medical_genetics def: "Underdevelopment of the `spleen` (FMA:7196)." [HPO:curators] xref: UMLS:C1970617 is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen [Term] id: HP:0006273 name: Pancreatic lymphangiectasis namespace: medical_genetics def: "The presence of `lymphangiectasis` (MPATH:98) in the `pancreas` (FMA:7198)." [HPO:probinson] xref: UMLS:C1856162 is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0006274 name: Reduced pancreatic beta cells namespace: medical_genetics xref: UMLS:C1856904 is_a: HP:0100567 ! Endocrine pancreatic insufficiency [Term] id: HP:0006275 name: Pancreatic islet-cell hypertrophy namespace: medical_genetics synonym: "Hypertrophic pancreatic islets" EXACT [] xref: UMLS:C0020564 xref: UMLS:C0022131 xref: UMLS:C0333959 xref: UMLS:C1848697 is_a: HP:0004510 ! Islets of Langerhans hyperplasia [Term] id: HP:0006276 name: Hyperechogenic pancreas namespace: medical_genetics xref: UMLS:C1857945 is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0006277 name: Pancreatic hyperplasia namespace: medical_genetics def: "`Hyperplasia` (MPATH:134) of the `pancreas` (FMA:7198)." [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 is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0006278 name: Ectopic pancreatic tissue namespace: medical_genetics def: "The presence of pancreatic tissue outside the normal pancreas, in many cases along the foregut and proximal midgut." [HPO:curators] xref: UMLS:C0994638 is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0006279 name: Beta-cell dysfunction namespace: medical_genetics xref: UMLS:C1969875 is_a: HP:0100567 ! Endocrine pancreatic insufficiency [Term] id: HP:0006280 name: Chronic pancreatitis namespace: medical_genetics def: "A `chronic` (PATO:0001863) form of `pancreatitis` (HP:0001733)." [HPO:probinson] xref: UMLS:C0149521 xref: UMLS:C0238339 is_a: HP:0001733 ! Pancreatitis [Term] id: HP:0006282 name: Generalized hypoplasia of dental enamel namespace: medical_genetics def: "A `generalized` (PATO:0001513) form of developmental hypoplasia of the `dental enamel` (FMA:55629)." [HPO:ibailleulforestier] xref: UMLS:C0011350 xref: UMLS:C0205082 xref: UMLS:C0334048 xref: UMLS:C1519275 xref: UMLS:C1849736 is_a: HP:0006297 ! Hypoplasia of dental enamel [Term] id: HP:0006283 name: Multiple unerupted teeth namespace: medical_genetics xref: UMLS:C0040458 xref: UMLS:C0439064 is_a: HP:0000706 ! Unerupted teeth [Term] id: HP:0006285 name: Hypomineralization of enamel namespace: medical_genetics alt_id: HP:0006359 def: "A `decreased amount` (PATO:0001997) of `enamel mineralization` (GO:0070166)." [HPO:probinson] synonym: "Decreased enamel mineralisation" EXACT [] xref: UMLS:C0011350 xref: UMLS:C1837863 is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0006286 name: Yellow-brown discoloration of the teeth namespace: medical_genetics xref: UMLS:C0040426 xref: UMLS:C0155339 xref: UMLS:C0678579 xref: UMLS:C1834412 xref: UMLS:C2239132 is_a: HP:0011073 ! Abnormality of dental color [Term] id: HP:0006287 name: Partial to total absence of permanent teeth namespace: medical_genetics xref: UMLS:C0348070 xref: UMLS:C0439175 xref: UMLS:C0439810 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0006349 ! Absence of permanent teeth [Term] id: HP:0006288 name: Advanced eruption namespace: medical_genetics alt_id: HP:0006317 def: "Tooth eruption more than 2 SD earlier than the mean eruption age." [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: "Premature eruption of teeth" EXACT [] synonym: "Premature tooth eruption" EXACT [] xref: UMLS:C0015230 xref: UMLS:C0040426 xref: UMLS:C0205252 xref: UMLS:C0266054 xref: UMLS:C0302295 xref: UMLS:C1533692 xref: UMLS:C2239132 is_a: HP:0006292 ! Abnormalities of dental eruption [Term] id: HP:0006289 name: Agenesis of central incisor namespace: medical_genetics alt_id: HP:0006320 def: "`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)." [HPO:ibailleulforestier] synonym: "Absent central incisor" EXACT [] synonym: "Absent central incisors" RELATED [] synonym: "Missing central incisors" RELATED [] xref: UMLS:C1855000 is_a: HP:0006485 ! Agenesis of incisor [Term] id: HP:0006290 name: Discolored lateral incisors namespace: medical_genetics def: "The presence of `discolored` (PATO:0000331) lateral incisors." [HPO:ibailleulforestier] xref: UMLS:C1866510 is_a: HP:0011063 ! Abnormality of incisor morphology [Term] id: HP:0006291 name: Marked delay in eruption of permanent teeth namespace: medical_genetics xref: UMLS:C0015230 xref: UMLS:C0205421 xref: UMLS:C0302295 xref: UMLS:C0348070 xref: UMLS:C0522501 xref: UMLS:C1533692 xref: UMLS:C1706089 is_a: HP:0000696 ! Delayed eruption of secondary teeth [Term] id: HP:0006292 name: Abnormalities of dental eruption namespace: medical_genetics synonym: "Abnormal dental eruption" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C1533692 xref: UMLS:C1859363 is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0006293 name: Agenesis of upper central incisor namespace: medical_genetics def: "`Agenesis` (MPATH:57) of `upper secondary incisor` (FMA:55712) or of `upper central primary incisor` (FMA:84216)." [HPO:ibailleulforestier] xref: UMLS:C1282910 xref: UMLS:C1855000 is_a: HP:0006289 ! Agenesis of central incisor [Term] id: HP:0006294 name: Delayed teeth eruption on ipsilateral side namespace: medical_genetics xref: UMLS:C0239174 xref: UMLS:C0441987 xref: UMLS:C0441989 is_a: HP:0000684 ! Delayed eruption [Term] id: HP:0006295 name: Severe dental caries namespace: medical_genetics xref: UMLS:C1851048 is_a: HP:0000670 ! Carious teeth [Term] id: HP:0006296 name: Poor dental development namespace: medical_genetics xref: UMLS:C1853384 is_a: HP:0000684 ! Delayed eruption [Term] id: HP:0006297 name: Hypoplasia of dental enamel namespace: medical_genetics alt_id: HP:0000671 alt_id: HP:0001565 alt_id: HP:0003770 def: "Developmental hypoplasia of the `dental enamel` (FMA:55629)." [HPO:ibailleulforestier] 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: UMLS:C0011350 xref: UMLS:C0011351 xref: UMLS:C0226984 xref: UMLS:C0543481 xref: UMLS:C1849736 xref: UMLS:C1851854 is_a: HP:0000682 ! Abnormality of dental enamel is_a: HP:0000685 ! Hypoplasia of teeth [Term] id: HP:0006298 name: Prolonged bleeding after dental extraction namespace: medical_genetics xref: UMLS:C0019080 xref: UMLS:C0040440 xref: UMLS:C0439590 is_a: HP:0001934 ! Persistent bleeding after trauma [Term] id: HP:0006300 name: Prominent widely-spaced incisors namespace: medical_genetics xref: UMLS:C1842368 is_a: HP:0001566 ! Widely-spaced upper incisors [Term] id: HP:0006302 name: Dagger-shaped pulp calcifications namespace: medical_genetics xref: UMLS:C1859821 is_a: HP:0002514 ! Cerebral calcification is_a: HP:0006479 ! Abnormality of the dental pulp [Term] id: HP:0006304 name: Widely-spaced incisors namespace: medical_genetics xref: UMLS:C0061928 xref: UMLS:C0332464 xref: UMLS:C0441994 xref: UMLS:C0447273 xref: UMLS:C1152525 xref: UMLS:C1282910 xref: UMLS:C1419277 xref: UMLS:C1541679 is_a: HP:0011062 ! Misalignment of incisors [Term] id: HP:0006306 name: Early dental caries namespace: medical_genetics xref: UMLS:C1867882 is_a: HP:0000670 ! Carious teeth [Term] id: HP:0006307 name: Small, widely spaced teeth namespace: medical_genetics alt_id: HP:0006281 def: "Small teeth with wide spaces between the teeth." [HPO:curators] synonym: "Small and widely spaced teeth" EXACT [] xref: UMLS:C0700321 xref: UMLS:C1855414 is_a: HP:0000685 ! Hypoplasia of teeth [Term] id: HP:0006308 name: Atrophy of alveolar ridges namespace: medical_genetics xref: UMLS:C0333641 xref: UMLS:C0447411 xref: UMLS:C1318149 is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0006309 name: Failure of eruption of permanent teeth namespace: medical_genetics xref: UMLS:C0015230 xref: UMLS:C0231174 xref: UMLS:C0302295 xref: UMLS:C0348070 xref: UMLS:C0680095 xref: UMLS:C1533692 is_a: HP:0000696 ! Delayed eruption of secondary teeth [Term] id: HP:0006311 name: Generalized microdontia namespace: medical_genetics xref: UMLS:C0399367 is_a: HP:0000691 ! Microdontia [Term] id: HP:0006312 name: Hypoplastic alveolar bone, severe namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0543481 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1440080 xref: UMLS:C1519275 is_a: HP:0000187 ! Broad alveolar ridges [Term] id: HP:0006313 name: Widely spaced deciduous teeth namespace: medical_genetics xref: UMLS:C1855414 is_a: HP:0000687 ! Widely spaced teeth is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006315 name: Single maxillary central incisor namespace: medical_genetics alt_id: HP:0001568 alt_id: HP:0006356 def: "Presence of one maxillary central `Incisor` (FMA:12823) positioned in the midline." [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. synonym: "Single central upper incisor" EXACT [] synonym: "Single median maxillary central incisor" EXACT [] xref: UMLS:C0549183 xref: UMLS:C0876920 xref: UMLS:C1840235 xref: UMLS:C1865568 xref: UMLS:C2347635 is_a: HP:0001573 ! Single central incisor [Term] id: HP:0006316 name: Irregularly spaced teeth namespace: medical_genetics xref: UMLS:C1845878 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0006321 name: Multiple non-erupting secondary teeth namespace: medical_genetics xref: UMLS:C1848904 is_a: HP:0000696 ! Delayed eruption of secondary teeth [Term] id: HP:0006322 name: Hypocalicifed-hypoplastic enamel namespace: medical_genetics xref: UMLS:C1863007 is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0006323 name: Premature loss of primary teeth namespace: medical_genetics 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. synonym: "Premature deciduous tooth loss" EXACT [] synonym: "Premature loss of deciduous teeth" EXACT [] xref: UMLS:C0040455 xref: UMLS:C0205252 xref: UMLS:C0232513 xref: UMLS:C1517945 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 namespace: medical_genetics xref: UMLS:C0017973 xref: UMLS:C0040426 xref: UMLS:C1390944 xref: UMLS:C2239132 xref: UMLS:C2267150 is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0006329 name: Alveolar process hypoplasia namespace: medical_genetics xref: UMLS:C1848905 is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0006330 name: Rotated maxillary central incisors namespace: medical_genetics xref: UMLS:C0024947 xref: UMLS:C0231458 xref: UMLS:C0447273 xref: UMLS:C1541679 is_a: HP:0000676 ! Abnormality of the incisors [Term] id: HP:0006332 name: Supernumerary maxillary incisors namespace: medical_genetics def: "The presence of a `increased number` (PATO:0000470) of maxillary incisors." [HPO:ibailleulforestier] xref: UMLS:C0021156 xref: UMLS:C0024947 xref: UMLS:C1883702 is_a: HP:0011064 ! Abnormality of number of incisors is_a: HP:0011069 ! Increased number of teeth [Term] id: HP:0006333 name: Crowded maxillary incisors namespace: medical_genetics def: "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)." [HPO:ibailleulforestier] synonym: "Crowded upper incisors" EXACT [] xref: UMLS:C0010383 xref: UMLS:C0021156 xref: UMLS:C0040433 xref: UMLS:C1282910 is_a: HP:0011062 ! Misalignment of incisors [Term] id: HP:0006334 name: Hypoplasia of the primary teeth namespace: medical_genetics alt_id: HP:0006318 def: "Developmental hypoplasia of the `primary teeth` (FMA:55655)." [HPO:ibailleulforestier] synonym: "Hypoplastic deciduous teeth" EXACT [] synonym: "Small deciduous teeth" EXACT [] xref: UMLS:C1855694 xref: UMLS:C1856203 is_a: HP:0000685 ! Hypoplasia of teeth is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006335 name: Persistence of primary teeth namespace: medical_genetics 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. 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:C0035280 xref: UMLS:C0040455 xref: UMLS:C0079214 xref: UMLS:C0080274 xref: UMLS:C0205322 xref: UMLS:C0205421 xref: UMLS:C0266050 xref: UMLS:C0333117 xref: UMLS:C0546816 xref: UMLS:C1517945 xref: UMLS:C1753315 is_a: HP:0006292 ! Abnormalities of dental eruption is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0006336 name: Short dental roots namespace: medical_genetics def: "`Short` (PATO:0000574) `dental root` (FMA:55624)." [HPO:probinson] synonym: "Underdeveloped dental roots" EXACT [] xref: UMLS:C0155952 is_a: HP:0006486 ! Abnormality of the dental root [Term] id: HP:0006337 name: Precocious eruption of secondary teeth namespace: medical_genetics xref: UMLS:C0015230 xref: UMLS:C0040426 xref: UMLS:C0175668 xref: UMLS:C0205436 xref: UMLS:C0302295 xref: UMLS:C1279930 xref: UMLS:C1522484 xref: UMLS:C1533692 xref: UMLS:C2239132 is_a: HP:0006288 ! Advanced eruption [Term] id: HP:0006338 name: Malformation of mandibular premolars namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0024687 xref: UMLS:C1704302 is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0006339 name: Pointed mandibular incisors namespace: medical_genetics def: "An abnormal morphology of the primary or permanent mandibular incisors having a `pointed` (PATO:0002258) shape." [HPO:ibailleulforestier] xref: UMLS:C0441994 xref: UMLS:C0447273 xref: UMLS:C1541679 xref: UMLS:C1552961 xref: UMLS:C2347617 is_a: HP:0011066 ! Pointed incisor [Term] id: HP:0006340 name: Irregular, small, or absent incisors namespace: medical_genetics xref: UMLS:C0021156 xref: UMLS:C0205271 xref: UMLS:C0332197 xref: UMLS:C0700321 is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0006342 name: Peg-shaped lateral incisors namespace: medical_genetics xref: UMLS:C0205093 xref: UMLS:C0332197 xref: UMLS:C1856136 is_a: HP:0000673 ! Peg-shaped incisors [Term] id: HP:0006344 name: Abnormality of primary molar morphology namespace: medical_genetics def: "An abnormality of `morphology` (PATO:0000051) of `primary molar` (FMA:84206)." [HPO:ibailleulforestier] xref: UMLS:C0026367 xref: UMLS:C0205161 xref: UMLS:C0332437 xref: UMLS:C0543482 xref: UMLS:C0700329 xref: UMLS:C0700619 xref: UMLS:C1547282 xref: UMLS:C2347472 is_a: HP:0006481 ! Abnormality of primary teeth is_a: HP:0011070 ! Abnormality of molar morphology [Term] id: HP:0006345 name: Pointed maxillary incisors namespace: medical_genetics def: "An abnormal morphology of the primary or permanent maxillary incisors having a `pointed` (PATO:0002258) shape." [HPO:ibailleulforestier] synonym: "Abnormally pointed upper lateral incisors" EXACT [] xref: UMLS:C0205161 xref: UMLS:C0447274 xref: UMLS:C1282910 xref: UMLS:C1541680 xref: UMLS:C1552961 xref: UMLS:C2347472 xref: UMLS:C2347617 is_a: HP:0011066 ! Pointed incisor [Term] id: HP:0006346 name: Screwdriver-shaped incisors namespace: medical_genetics def: "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." [HPO:ibailleulforestier] xref: UMLS:C0021156 xref: UMLS:C0179323 xref: UMLS:C0332479 xref: UMLS:C0336799 xref: UMLS:C0522512 xref: UMLS:C0700369 is_a: HP:0011063 ! Abnormality of incisor morphology [Term] id: HP:0006347 name: Small, pointed deciduous teeth namespace: medical_genetics xref: UMLS:C1552961 xref: UMLS:C1856203 xref: UMLS:C2347617 is_a: HP:0006481 ! Abnormality of primary teeth is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0006349 name: Absence of permanent teeth namespace: medical_genetics alt_id: HP:0000681 def: "A congenital defect characterized by the absence of one or more permanent teeth, including oligodontia, hypodontia, and adontia of the permanent dentition." [HPO:probinson] synonym: "Absent permanent teeth" EXACT [] synonym: "Missing teeth" EXACT [] xref: UMLS:C0080233 xref: UMLS:C0348070 xref: UMLS:C1689985 xref: UMLS:C1855695 xref: UMLS:C2107118 is_a: HP:0009804 ! Reduced number of teeth is_a: HP:0011044 ! Abnormal number of permanent teeth [Term] id: HP:0006350 name: Crescent/chevron-shaped pulp chambers namespace: medical_genetics xref: UMLS:C0034099 xref: UMLS:C0332479 xref: UMLS:C0443173 xref: UMLS:C0444628 xref: UMLS:C0522512 is_a: HP:0006479 ! Abnormality of the dental pulp [Term] id: HP:0006352 name: Failure of secondary teeth eruption namespace: medical_genetics xref: UMLS:C0015230 xref: UMLS:C0040426 xref: UMLS:C0175668 xref: UMLS:C0205436 xref: UMLS:C0231174 xref: UMLS:C0302295 xref: UMLS:C0680095 xref: UMLS:C1522484 xref: UMLS:C1533692 xref: UMLS:C2239132 is_a: HP:0006292 ! Abnormalities of dental eruption [Term] id: HP:0006353 name: Hypoplastic tooth buds namespace: medical_genetics xref: UMLS:C1969284 is_a: HP:0000685 ! Hypoplasia of teeth [Term] id: HP:0006355 name: Agenesis of lower central incisor namespace: medical_genetics def: "`Agenesis` (MPATH:57) of `lower secondary incisor` (FMA:55713) or `lower primary incisor` (FMA:84215)." [HPO:ibailleulforestier] xref: UMLS:C0332197 xref: UMLS:C0441994 xref: UMLS:C0447273 xref: UMLS:C1541679 is_a: HP:0006289 ! Agenesis of central incisor [Term] id: HP:0006357 name: Premature loss of secondary teeth namespace: medical_genetics xref: UMLS:C0040426 xref: UMLS:C0175668 xref: UMLS:C0205252 xref: UMLS:C0205436 xref: UMLS:C1517945 xref: UMLS:C1522484 xref: UMLS:C2239132 is_a: HP:0006480 ! Premature loss of teeth [Term] id: HP:0006358 name: Shovel-shaped maxillary central incisors namespace: medical_genetics def: "Incisors with a thick marginal ridge surrounding a deep lingual fossa are termed shovel-shaped incisors." [pmid:2212205] xref: UMLS:C1833168 is_a: HP:0011063 ! Abnormality of incisor morphology [Term] id: HP:0006360 name: Radiolucent metaphyses have abnormal trabecular pattern namespace: medical_genetics xref: UMLS:C1849040 xref: UMLS:C1857138 is_a: HP:0005089 ! Abnormal metaphyseal trabeculation [Term] id: HP:0006361 name: Irregular femoral epiphyses namespace: medical_genetics xref: UMLS:C1850658 is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0006362 name: Varus deformity of humeral neck namespace: medical_genetics xref: UMLS:C0020164 xref: UMLS:C0027530 xref: UMLS:C0544754 xref: UMLS:C1281592 is_a: HP:0003887 ! Abnormality of the humeral heads [Term] id: HP:0006365 name: Proximal radial shortening namespace: medical_genetics xref: UMLS:C1866691 is_a: HP:0002984 ! Hypoplasia of the radius [Term] id: HP:0006366 name: Adductor longus contractures namespace: medical_genetics xref: UMLS:C1859524 is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0006367 name: Broad crumpled long bones namespace: medical_genetics xref: UMLS:C1833766 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0006368 name: Forearm reduction defects namespace: medical_genetics xref: UMLS:C1849327 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0006369 name: Small, irregular patellae namespace: medical_genetics xref: UMLS:C0030647 xref: UMLS:C0205271 xref: UMLS:C0700321 is_a: HP:0003065 ! Patellar hypoplasia [Term] id: HP:0006370 name: Distal ulnar epiphyseal calcifications namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C0459009 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0010600 ! Abnormality of the distal ulnar epiphysis is_a: HP:0010655 ! Stippling of the epiphyses [Term] id: HP:0006371 name: Short, broad long bone diaphyses namespace: medical_genetics xref: UMLS:C0242696 xref: UMLS:C0332464 xref: UMLS:C1854912 is_a: HP:0006504 ! Abnormality involving the diaphyses of the limbs [Term] id: HP:0006372 name: Hypoplasia or unilateral/bilateral absence of ulna namespace: medical_genetics xref: UMLS:C0041600 xref: UMLS:C0205092 xref: UMLS:C0238767 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1279087 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna [Term] id: HP:0006375 name: Short, dumbbell femur namespace: medical_genetics xref: UMLS:C1397248 is_a: HP:0003097 ! Short femur is_a: HP:0005061 ! short, dumbbell appearance of long bones [Term] id: HP:0006376 name: Limited elbow flexion namespace: medical_genetics xref: UMLS:C1856922 is_a: HP:0005060 ! limited elbow flexion/extension [Term] id: HP:0006377 name: Metaphyseal chondrodysplasia of long bones namespace: medical_genetics xref: UMLS:C0222647 xref: UMLS:C0265290 xref: UMLS:C1282773 is_a: HP:0005871 ! Metaphyseal chondrodysplasia [Term] id: HP:0006378 name: Osteolysis of patellae namespace: medical_genetics xref: UMLS:C0029435 xref: UMLS:C0030647 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 namespace: medical_genetics xref: UMLS:C1856029 is_a: HP:0005736 ! Hypoplastic tibia [Term] id: HP:0006380 name: Knee flexion deformities namespace: medical_genetics xref: UMLS:C0581324 is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0006381 name: Rudimentary fibula namespace: medical_genetics xref: UMLS:C1855279 is_a: HP:0004986 ! Rudimentary to absent fibulae [Term] id: HP:0006382 name: Short, bent long bones namespace: medical_genetics xref: UMLS:C0205133 xref: UMLS:C1854912 xref: UMLS:C1879831 is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities [Term] id: HP:0006383 name: Progressive bowing of long bones namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0222647 xref: UMLS:C0544755 xref: UMLS:C1282773 is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006384 name: Club-shaped distal femur namespace: medical_genetics alt_id: HP:0006447 synonym: "Club-shaped distal femora" EXACT [] xref: UMLS:C1857505 is_a: HP:0002823 ! Abnormality of the femur [Term] id: HP:0006385 name: Short lower limbs namespace: medical_genetics xref: UMLS:C1855192 is_a: HP:0009816 ! Hypoplasia involving bones of the lower limbs [Term] id: HP:0006386 name: Hypoplastic distal radial epiphyses namespace: medical_genetics def: "Underdevelopment of the distal epiphysis of the radius." [HPO:curators] xref: UMLS:C1969286 is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0006387 name: Wide distal metaphysis of femur namespace: medical_genetics xref: UMLS:C0015811 xref: UMLS:C0332464 xref: UMLS:C0824819 xref: UMLS:C1279112 is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0006388 name: Hypoplastic/absent/deformed ulna namespace: medical_genetics xref: UMLS:C0041600 xref: UMLS:C0332197 xref: UMLS:C0333067 xref: UMLS:C0543481 xref: UMLS:C1279087 is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna [Term] id: HP:0006389 name: Limited knee flexion namespace: medical_genetics xref: UMLS:C1839512 is_a: HP:0005085 ! limited knee flexion/extension [Term] id: HP:0006390 name: Anterior bowing of tibia namespace: medical_genetics xref: UMLS:C0040184 xref: UMLS:C0205094 xref: UMLS:C0544755 xref: UMLS:C1279118 is_a: HP:0002982 ! Tibial bowing [Term] id: HP:0006391 name: Overtubulated long bones namespace: medical_genetics xref: UMLS:C1848769 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0006392 name: Increased density of long bones namespace: medical_genetics def: "An abnormal increase in the bone density of the long bones." [HPO:curators] xref: UMLS:C0029053 xref: UMLS:C0222647 xref: UMLS:C1282773 is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0006394 name: Limited pronation/supination of forearm namespace: medical_genetics 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:curators] xref: UMLS:C0016536 xref: UMLS:C0033421 xref: UMLS:C0038845 xref: UMLS:C0439801 is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0006397 name: Lateral displacement of patellae namespace: medical_genetics xref: UMLS:C0030647 xref: UMLS:C0333046 is_a: HP:0003045 ! Abnormality of the patella [Term] id: HP:0006398 name: Mildly flattened distal femoral epiphyses namespace: medical_genetics xref: UMLS:C0205108 xref: UMLS:C0547040 xref: UMLS:C0750532 xref: UMLS:C1850642 is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis [Term] id: HP:0006400 name: Absent knee epiphyses namespace: medical_genetics xref: UMLS:C1859462 is_a: HP:0002815 ! Abnormality of the knees is_a: HP:0010577 ! Absent epiphyses [Term] id: HP:0006402 name: Distal shortening of limbs namespace: medical_genetics xref: UMLS:C0015385 xref: UMLS:C0205108 xref: UMLS:C0441636 is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities [Term] id: HP:0006406 name: Club-shaped proximal femurs namespace: medical_genetics xref: UMLS:C0205107 xref: UMLS:C1862419 is_a: HP:0002823 ! Abnormality of the femur [Term] id: HP:0006407 name: Small, irregular distal femoral epiphyses namespace: medical_genetics xref: UMLS:C0205108 xref: UMLS:C0700321 xref: UMLS:C1850658 is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis [Term] id: HP:0006408 name: Short femora with proximal clubbing and distal tapering namespace: medical_genetics xref: UMLS:C0149651 xref: UMLS:C0205107 xref: UMLS:C0205108 xref: UMLS:C0441640 xref: UMLS:C1397248 xref: UMLS:C1548969 is_a: HP:0003097 ! Short femur [Term] id: HP:0006409 name: Progressive leg bowing namespace: medical_genetics xref: UMLS:C0023216 xref: UMLS:C0205329 xref: UMLS:C0544755 xref: UMLS:C1140621 xref: UMLS:C1269079 is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006410 name: Absent-hypoplastic ulnae namespace: medical_genetics xref: UMLS:C1862432 is_a: HP:0003022 ! Hypoplasia of the ulna [Term] id: HP:0006411 name: Radiohumeral dislocation namespace: medical_genetics xref: UMLS:C1403299 is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0006413 name: Broad tibial metaphyses namespace: medical_genetics xref: UMLS:C0040184 xref: UMLS:C1854911 is_a: HP:0006491 ! Abnormality of the tibial metaphysis [Term] id: HP:0006414 name: Bowing of the distal tibia namespace: medical_genetics synonym: "Tibial bowing, especially at ankle" EXACT [] xref: UMLS:C0003086 xref: UMLS:C0003087 xref: UMLS:C0039316 xref: UMLS:C0544755 xref: UMLS:C0588200 xref: UMLS:C1283839 xref: UMLS:C1837081 is_a: HP:0002982 ! Tibial bowing is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0006415 name: Cortically dense long tubular bones namespace: medical_genetics xref: UMLS:C1849276 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0006416 name: Asymmetric limb hypertrophy namespace: medical_genetics xref: UMLS:C1835632 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0006417 name: Broad femoral metaphyses namespace: medical_genetics xref: UMLS:C1864854 is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0006418 name: Progressive shortening of radius in first year namespace: medical_genetics xref: UMLS:C0034627 xref: UMLS:C0205329 xref: UMLS:C0205435 xref: UMLS:C0439234 xref: UMLS:C0439508 xref: UMLS:C0441636 xref: UMLS:C1279083 xref: UMLS:C1279901 xref: UMLS:C1306504 is_a: HP:0002995 ! Short radius [Term] id: HP:0006419 name: Variable humeri hypoplasia namespace: medical_genetics xref: UMLS:C1851312 is_a: HP:0005792 ! Humeral hypoplasia [Term] id: HP:0006420 name: Asymmetric radial dysplasia namespace: medical_genetics def: "The presence of `asymmetric` (PATO:0000616) `developmental dysplasia` (MPATH:64) of the `radius` (FMA:23463)." [HPO:probinson] xref: UMLS:C1969396 is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0006422 name: 'erlenmeyer flask' deformity of distal femur namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0221430 xref: UMLS:C0302142 xref: UMLS:C0448194 xref: UMLS:C0872171 xref: UMLS:C2117111 is_a: HP:0004975 ! 'Erlenmeyer flask' deformity of the femurs [Term] id: HP:0006423 name: Peg-like central prominence of distal tibial metaphyses namespace: medical_genetics xref: UMLS:C0205099 xref: UMLS:C0205108 xref: UMLS:C0205402 xref: UMLS:C0825084 xref: UMLS:C1879652 is_a: HP:0006491 ! Abnormality of the tibial metaphysis [Term] id: HP:0006424 name: Elongated radius with hypoplasia of radial head namespace: medical_genetics xref: UMLS:C0034627 xref: UMLS:C0223696 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1279083 xref: UMLS:C1306504 is_a: HP:0003997 ! Hypoplastic radial head [Term] id: HP:0006426 name: Rudimentary to absent tibiae namespace: medical_genetics xref: UMLS:C0040184 xref: UMLS:C0332197 is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia [Term] id: HP:0006427 name: Severe metaphyseal changes of long bones namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0222647 xref: UMLS:C0222671 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C1282773 xref: UMLS:C1519275 xref: UMLS:C1705241 is_a: HP:0006506 ! Abnormality involving the metaphyses of the limbs [Term] id: HP:0006428 name: Bowed, short lower extremities namespace: medical_genetics xref: UMLS:C0023216 xref: UMLS:C0239399 xref: UMLS:C0441994 xref: UMLS:C0544755 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0006429 name: Broad femoral neck namespace: medical_genetics alt_id: HP:0003369 def: "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:Curators] synonym: "Broadening of femoral neck" EXACT [] synonym: "Wide femoral neck" EXACT [] synonym: "Widened femoral necks" EXACT [] xref: UMLS:C0015815 xref: UMLS:C1836590 xref: UMLS:C1849016 xref: UMLS:C1857135 is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0006430 name: Tight achilles tendon namespace: medical_genetics xref: UMLS:C1857538 is_a: HP:0004711 ! Shortening of the achilles tendon [Term] id: HP:0006431 name: Metaphyseal abnormalities of distal and proximal femurs namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0205108 xref: UMLS:C0222671 xref: UMLS:C0448190 is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0006432 name: Trapezoidal distal femoral condyles namespace: medical_genetics xref: UMLS:C1843983 is_a: HP:0002823 ! Abnormality of the femur [Term] id: HP:0006433 name: Short, dysplastic radii namespace: medical_genetics xref: UMLS:C0334045 xref: UMLS:C1401779 is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0006434 name: Hypoplasia of proximal radius namespace: medical_genetics xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C0588205 is_a: HP:0002984 ! Hypoplasia of the radius [Term] id: HP:0006436 name: Shortening of the tibia namespace: medical_genetics alt_id: HP:0006445 synonym: "Marked shortening of tibia" EXACT [] xref: UMLS:C0040184 xref: UMLS:C0441636 xref: UMLS:C0522501 xref: UMLS:C1279118 xref: UMLS:C1706089 is_a: HP:0005736 ! Hypoplastic tibia [Term] id: HP:0006437 name: Disproportionate prominence of the femoral medial condyle namespace: medical_genetics xref: UMLS:C0205098 xref: UMLS:C0205350 xref: UMLS:C0205402 xref: UMLS:C0582800 is_a: HP:0002823 ! Abnormality of the femur [Term] id: HP:0006438 name: Enlargement of the distal femoral epiphysis namespace: medical_genetics def: "An abnormal enlargement of the `distal epiphysis of the femur` (FMA:32844)." [HPO:probinson] synonym: "Large distal femoral epiphyses" EXACT [] xref: UMLS:C1843105 is_a: HP:0010590 ! Abnormality of the distal femoral epiphysis [Term] id: HP:0006439 name: Radioulnar dislocation namespace: medical_genetics alt_id: HP:0003972 synonym: "Dislocated radioulnar joints" EXACT [] xref: UMLS:C0012691 is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0006440 name: Increased density of long bone diaphyses namespace: medical_genetics xref: UMLS:C0029053 xref: UMLS:C0222647 xref: UMLS:C0242696 xref: UMLS:C1282773 is_a: HP:0006504 ! Abnormality involving the diaphyses of the limbs is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0006441 name: Lateral humeral condyle aplasia namespace: medical_genetics xref: UMLS:C1833878 is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0006442 name: Hypoplasia of proximal fibula namespace: medical_genetics xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C0588195 is_a: HP:0003038 ! Fibular hypoplasia [Term] id: HP:0006443 name: Patellar aplasia namespace: medical_genetics alt_id: HP:0003046 alt_id: HP:0006475 def: "Absence of the patella." [HPO:curators] synonym: "Absent patella" EXACT [] synonym: "Absent patellae" EXACT [] synonym: "Absent patellas" EXACT [] synonym: "Aplastic patellae" EXACT [] xref: UMLS:C0586734 xref: UMLS:C1840067 xref: UMLS:C1868578 is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella [Term] id: HP:0006446 name: Dysplastic patella namespace: medical_genetics xref: UMLS:C1849580 is_a: HP:0003045 ! Abnormality of the patella [Term] id: HP:0006449 name: Distal radial epiphyseal osteolysis namespace: medical_genetics xref: UMLS:C1850145 is_a: HP:0010597 ! Abnormality of the distal radial epiphysis [Term] id: HP:0006450 name: Multicentric ossification of proximal femoral epiphyses namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0223879 xref: UMLS:C0439743 xref: UMLS:C1304926 is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0006451 name: Congenital bowing of the long bones namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0222647 xref: UMLS:C0544755 xref: UMLS:C1282773 xref: UMLS:C1744681 is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006452 name: Marked shortness and bowing of long bones namespace: medical_genetics xref: UMLS:C0222647 xref: UMLS:C0522501 xref: UMLS:C0544755 xref: UMLS:C1282773 xref: UMLS:C1706089 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006453 name: Lateral displacement of the femoral he namespace: medical_genetics def: "A developmental anomaly with lateral displacement of the `femoral head` (FMA:32851)." [HPO:probinson] synonym: "Laterally displaced femoral heads" EXACT [] xref: UMLS:C0012727 xref: UMLS:C0015813 xref: UMLS:C0205093 is_a: HP:0003368 ! Abnormality of the femoral head [Term] id: HP:0006454 name: Severely delayed patellae ossification namespace: medical_genetics xref: UMLS:C1863744 is_a: HP:0003045 ! Abnormality of the patella is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0006456 name: Small, irregular proximal tibial epiphyses namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C0459027 xref: UMLS:C0700321 is_a: HP:0010591 ! Abnormality of the proximal tibial epiphysis [Term] id: HP:0006458 name: Irregular patellar margins namespace: medical_genetics xref: UMLS:C1836870 is_a: HP:0003045 ! Abnormality of the patella [Term] id: HP:0006459 name: Dorsal subluxation of ulna namespace: medical_genetics def: "Partial dislocation of the ulna in the dorsal direction." [HPO:curators] xref: UMLS:C0041600 xref: UMLS:C0205095 xref: UMLS:C0332768 xref: UMLS:C1279087 is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0006460 name: Increased laxity of ankles namespace: medical_genetics xref: UMLS:C0003086 xref: UMLS:C0332537 is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0006461 name: Proximal femoral epiphysiolysis namespace: medical_genetics alt_id: HP:0003000 def: "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." [HPO:probinson] synonym: "Slipped capilal femoral epiphysis" EXACT [] synonym: "Slipped capital femoral epiphyses" EXACT [] xref: UMLS:C0006909 xref: UMLS:C0014571 xref: UMLS:C0015811 xref: UMLS:C0149887 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0006462 name: Generalized bone demineralization namespace: medical_genetics 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 is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0006463 name: Rickets of the lower limbs namespace: medical_genetics xref: UMLS:C0023216 xref: UMLS:C0035579 is_a: HP:0002748 ! Rickets is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0006464 name: Mild humeral shortening namespace: medical_genetics xref: UMLS:C1855252 is_a: HP:0003014 ! Short humeri [Term] id: HP:0006465 name: Periosteal thickening of long tubular bones namespace: medical_genetics xref: UMLS:C0151747 xref: UMLS:C0205400 xref: UMLS:C0222647 xref: UMLS:C0332208 xref: UMLS:C0442033 xref: UMLS:C0595834 xref: UMLS:C1282773 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0006466 name: Contractures of the ankles namespace: medical_genetics alt_id: HP:0006403 synonym: "Ankle contracture" EXACT [] synonym: "Ankle contractures" EXACT [] xref: UMLS:C0003086 xref: UMLS:C0009917 xref: UMLS:C1837407 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 namespace: medical_genetics def: "A limitation of the range of movement of the shoulder joint." [HPO:curators] xref: UMLS:C1851313 is_a: HP:0003043 ! Abnormality of the shoulder is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0006468 name: Bilateral humeral hypoplasia namespace: medical_genetics xref: UMLS:C1865364 is_a: HP:0005792 ! Humeral hypoplasia [Term] id: HP:0006470 name: Thin diaphyses of long bones namespace: medical_genetics xref: UMLS:C0205168 xref: UMLS:C0222647 xref: UMLS:C0242696 xref: UMLS:C1282773 is_a: HP:0006504 ! Abnormality involving the diaphyses of the limbs [Term] id: HP:0006471 name: Fixed elbow flexion namespace: medical_genetics xref: UMLS:C0231441 xref: UMLS:C0443218 xref: UMLS:C2215879 is_a: HP:0005060 ! limited elbow flexion/extension [Term] id: HP:0006472 name: Short, broad, bowed long bones namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0544755 xref: UMLS:C1854912 is_a: HP:0005647 ! Shortened bowed long bones [Term] id: HP:0006473 name: Anterior bowing of long bones namespace: medical_genetics xref: UMLS:C0205094 xref: UMLS:C0222647 xref: UMLS:C0544755 xref: UMLS:C1282773 is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006476 name: Abnormality of the pancreatic islet cells namespace: medical_genetics 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 glucogon, 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:curators] xref: UMLS:C0000768 xref: UMLS:C0734999 xref: UMLS:C1704258 is_a: HP:0001732 ! Abnormality of the pancreas created_by: peter creation_date: 2008-03-28T04:41:00Z [Term] id: HP:0006477 name: Abnormality of the alveolar ridges namespace: medical_genetics def: "Any abnormality of the alveolar ridges (on the upper or lower jaws). The alveolar ridges contain the sockets (alveoli) of the teeth." [HPO:curators] synonym: "Defect in alveolar ridge" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0447411 xref: UMLS:C1318149 xref: UMLS:C1457869 xref: UMLS:C1704258 xref: UMLS:C1861101 is_a: HP:0000164 ! Abnormality of the teeth created_by: peter creation_date: 2008-03-28T04:44:00Z [Term] id: HP:0006479 name: Abnormality of the dental pulp namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0011399 xref: UMLS:C1704258 is_a: HP:0011061 ! Abnormality of dental structure created_by: peter creation_date: 2008-03-28T04:46:00Z [Term] id: HP:0006480 name: Premature loss of teeth namespace: medical_genetics alt_id: HP:0006343 synonym: "Premature teeth loss" EXACT [] xref: UMLS:C0040426 xref: UMLS:C0205252 xref: UMLS:C1517945 xref: UMLS:C2239132 is_a: HP:0000701 ! Loss of teeth created_by: peter creation_date: 2008-03-28T05:03:00Z [Term] id: HP:0006481 name: Abnormality of primary teeth namespace: medical_genetics def: "Any abnormality of the `primary tooth` (FMA:55655)." [HPO:ibailleulforestier] comment: Primary teeth are also called temporary teeth or deciduous teeth. synonym: "Abnormality of deciduous teeth" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0040455 xref: UMLS:C1704258 is_a: HP:0000164 ! Abnormality of the teeth created_by: peter creation_date: 2008-03-28T05:40:00Z [Term] id: HP:0006482 name: Abnormality of dental morphology namespace: medical_genetics alt_id: HP:0000697 synonym: "Abnormally shaped teeth" EXACT [] synonym: "Malformed teeth" EXACT [] synonym: "Misshapen teeth" EXACT [] synonym: "Misshapened teeth" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0040426 xref: UMLS:C0040427 xref: UMLS:C0226984 xref: UMLS:C0332437 xref: UMLS:C0543482 xref: UMLS:C0700329 xref: UMLS:C0700619 xref: UMLS:C1704258 xref: UMLS:C1849806 xref: UMLS:C1857062 xref: UMLS:C2239132 is_a: HP:0000164 ! Abnormality of the teeth created_by: peter creation_date: 2008-03-28T05:41:00Z [Term] id: HP:0006483 name: Abnormal number of teeth namespace: medical_genetics def: "The presence of an `altered number of`(PATO:0002083) of `teeth` (FMA:12516)." [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. xref: UMLS:C0040426 xref: UMLS:C0332594 xref: UMLS:C2239132 is_a: HP:0000164 ! Abnormality of the teeth created_by: peter creation_date: 2008-03-28T05:44:00Z [Term] id: HP:0006485 name: Agenesis of incisor namespace: medical_genetics def: "`Agenesis` (MPATH:57) of `incisor` (FMA:12823)." [HPO:probinson] comment: Failure of one or more incisors to develop. synonym: "Absence of incisors" RELATED [] synonym: "Missing incisors" RELATED [] xref: UMLS:C0021156 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0001592 ! Selective tooth agenesis is_a: HP:0011064 ! Abnormality of number of incisors created_by: peter creation_date: 2008-03-28T05:49:00Z [Term] id: HP:0006486 name: Abnormality of the dental root namespace: medical_genetics def: "An abnormality of the `dental root` (FMA:55624)." [HPO:ibailleulforestier] xref: UMLS:C0000768 xref: UMLS:C0155952 xref: UMLS:C1704258 is_a: HP:0006482 ! Abnormality of dental morphology created_by: peter creation_date: 2008-03-28T05:52:00Z [Term] id: HP:0006487 name: Bowing of the long bones namespace: medical_genetics alt_id: HP:0005087 alt_id: HP:0006404 synonym: "Bowed long bones" EXACT [] synonym: "Bowing of long bones" EXACT [] xref: UMLS:C0222647 xref: UMLS:C0544755 xref: UMLS:C1282773 is_a: HP:0002813 ! Abnormality of the extremities created_by: peter creation_date: 2008-03-28T05:56:00Z [Term] id: HP:0006488 name: Bowing of the arms namespace: medical_genetics xref: UMLS:C0446516 xref: UMLS:C0544755 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0006487 ! Bowing of the long bones created_by: peter creation_date: 2008-03-28T05:57:00Z [Term] id: HP:0006489 name: Abnormality of the femoral metaphysis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0824856 xref: UMLS:C1704258 is_a: HP:0002823 ! Abnormality of the femur is_a: HP:0006490 ! Abnormality of lower-limb metaphyses created_by: peter creation_date: 2008-03-28T06:02:00Z [Term] id: HP:0006490 name: Abnormality of lower-limb metaphyses namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0023216 xref: UMLS:C0222671 xref: UMLS:C1269079 xref: UMLS:C1704258 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0006506 ! Abnormality involving the metaphyses of the limbs created_by: peter creation_date: 2008-03-28T06:02:00Z [Term] id: HP:0006491 name: Abnormality of the tibial metaphysis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0825084 xref: UMLS:C1704258 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 namespace: medical_genetics 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 [] xref: UMLS:C0016068 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1281580 xref: UMLS:C1836186 xref: UMLS:C1848664 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 namespace: medical_genetics def: "Absence or underdevelopment of the bones of the lower limbs." [HPO:curators] xref: UMLS:C0023216 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0262950 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1266909 xref: UMLS:C1314939 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities created_by: peter creation_date: 2008-03-28T06:04:00Z [Term] id: HP:0006494 name: Aplasia/Hypoplasia involving bones of the feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0262950 xref: UMLS:C0334079 xref: UMLS:C0347981 xref: UMLS:C0543481 xref: UMLS:C1266909 xref: UMLS:C1314939 is_a: HP:0001760 ! Abnormality of the feet 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 namespace: medical_genetics def: "Absence or underdevelopment of the ulna." [HPO:curators] xref: UMLS:C0041600 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1279087 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 namespace: medical_genetics def: "Absence or underdevelopment of the bones of the upper limbs." [HPO:curators] xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0262950 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1140618 xref: UMLS:C1266909 xref: UMLS:C1314939 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities created_by: peter creation_date: 2008-03-28T06:16:00Z [Term] id: HP:0006498 name: Aplasia/Hypoplasia of the patella namespace: medical_genetics 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 [] xref: UMLS:C0030647 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0586734 xref: UMLS:C0700321 xref: UMLS:C0998074 xref: UMLS:C1279123 xref: UMLS:C1840068 xref: UMLS:C1868578 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 namespace: medical_genetics alt_id: HP:0006412 alt_id: HP:0008811 xref: UMLS:C0000768 xref: UMLS:C0205324 xref: UMLS:C0457933 xref: UMLS:C1282299 xref: UMLS:C1704258 xref: UMLS:C1850642 xref: UMLS:C1850658 is_a: HP:0002823 ! Abnormality of the femur is_a: HP:0004982 ! Flat, irregular epiphyses 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0023216 xref: UMLS:C1314939 xref: UMLS:C1704258 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 namespace: medical_genetics def: "A small/hypoplastic or absent/aplastic radius." [HPO:curators] xref: UMLS:C0034627 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1279083 xref: UMLS:C1306504 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 namespace: medical_genetics def: "Absence or underdevelopment of the carpal bones." [HPO:curators] xref: UMLS:C0007285 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1314939 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 namespace: medical_genetics def: "Small/hypoplastic or absent/aplastic forearm bones." [HPO:curators] xref: UMLS:C0223680 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1314939 is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0006496 ! Aplasia/Hypoplasia involving bones of the upper limbs created_by: peter creation_date: 2008-03-28T06:45:00Z [Term] id: HP:0006504 name: Abnormality involving the diaphyses of the limbs namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0015385 xref: UMLS:C0242696 xref: UMLS:C1314939 xref: UMLS:C1704258 is_a: HP:0000940 ! Abnormality of the diaphyses is_a: HP:0002813 ! Abnormality of the extremities created_by: peter creation_date: 2008-03-28T06:47:00Z [Term] id: HP:0006505 name: Abnormality involving the epiphyses of the limbs namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0015385 xref: UMLS:C1314939 xref: UMLS:C1704258 is_a: HP:0002813 ! Abnormality of the extremities is_a: HP:0005930 ! Abnormality of the epiphyses created_by: peter creation_date: 2008-03-28T06:48:00Z [Term] id: HP:0006506 name: Abnormality involving the metaphyses of the limbs namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0015385 xref: UMLS:C0222671 xref: UMLS:C1314939 xref: UMLS:C1704258 is_a: HP:0000944 ! Abnormality of the metaphyses is_a: HP:0002813 ! Abnormality of the extremities created_by: peter creation_date: 2008-03-28T06:48:00Z [Term] id: HP:0006507 name: Aplasia/Hypoplasia of the humerus namespace: medical_genetics def: "Absence or underdevelopment of the humerus." [HPO:curators] xref: UMLS:C0020164 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1279075 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1282300 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0040578 xref: UMLS:C1278905 xref: UMLS:C1510475 is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0006510 name: Chronic obstructive pulmonary disease namespace: medical_genetics xref: UMLS:C0024117 xref: UMLS:C1847014 is_a: HP:0006536 ! Obstructive lung disease [Term] id: HP:0006511 name: Laryngeal stridor namespace: medical_genetics synonym: "Laryngeal stidor" EXACT [] xref: UMLS:C0023066 xref: UMLS:C1853561 is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0006512 name: Mild obstructive lung disease namespace: medical_genetics xref: UMLS:C1845017 is_a: HP:0006536 ! Obstructive lung disease [Term] id: HP:0006514 name: Intraalveolar nodular calcifications namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C0205297 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0006515 name: Interstitial pneumonitis namespace: medical_genetics xref: UMLS:C0206061 is_a: HP:0006530 ! Interstitial pulmonary disease [Term] id: HP:0006516 name: Hypersensitivity pneumonitis namespace: medical_genetics xref: UMLS:C0002390 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006517 name: Congenital alveolar proteinosis namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0034050 xref: UMLS:C1744681 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006518 name: Pulmonary venoocclusive disease namespace: medical_genetics xref: UMLS:C0034091 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006519 name: Alveolar cell carcinoma namespace: medical_genetics xref: UMLS:C0007120 is_a: HP:0002664 ! Neoplasia [Term] id: HP:0006520 name: Progressive pulmonary function impairment namespace: medical_genetics xref: UMLS:C1849570 is_a: HP:0005952 ! Decreased pulmonary function [Term] id: HP:0006521 name: Pulmonary lymphangiectasia namespace: medical_genetics alt_id: HP:0006526 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:curators] synonym: "Pulmonary lymphangiectasis" EXACT [] xref: UMLS:C1855480 xref: UMLS:C1856167 is_a: HP:0006529 ! Abnormal pulmonary lymphatics [Term] id: HP:0006522 name: Repeated pneumothoraces namespace: medical_genetics xref: UMLS:C0032326 xref: UMLS:C0205341 xref: UMLS:C1963215 is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0006523 name: Pulmonary fibrosis due to recurrent infections namespace: medical_genetics xref: UMLS:C0034069 xref: UMLS:C0239998 is_a: HP:0002206 ! Pulmonary fibrosis [Term] id: HP:0006524 name: Tracheobronchial leiomyomatosis namespace: medical_genetics xref: UMLS:C0206654 xref: UMLS:C0450123 is_a: HP:0005607 ! Abnormality of the tracheobronchial system [Term] id: HP:0006525 name: Lung segmentation defects namespace: medical_genetics xref: UMLS:C1839288 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006527 name: Lymphoid interstitial pneumonia namespace: medical_genetics xref: UMLS:C0264511 is_a: HP:0006530 ! Interstitial pulmonary disease [Term] id: HP:0006528 name: Chronic lung disease namespace: medical_genetics xref: UMLS:C0746102 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006529 name: Abnormal pulmonary lymphatics namespace: medical_genetics def: "An abnormality of the `pulmonary lymphatic chain` (FMA:67999)." [HPO:probinson] xref: UMLS:C1838011 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006530 name: Interstitial pulmonary disease namespace: medical_genetics alt_id: HP:0006513 alt_id: HP:0006547 synonym: "Interstitial lung disease" EXACT [] synonym: "Pulmonary function tests show interstitial lung disease" EXACT [] xref: UMLS:C0024109 xref: UMLS:C0024115 xref: UMLS:C0024119 xref: UMLS:C0206062 xref: UMLS:C0455540 xref: UMLS:C0596790 xref: UMLS:C1522203 xref: UMLS:C1547282 xref: UMLS:C1555769 xref: UMLS:C1881236 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006531 name: Pleural lymphangiectasia namespace: medical_genetics xref: UMLS:C1856139 is_a: HP:0002103 ! Abnormality of the pleura [Term] id: HP:0006532 name: Pneumonia, recurrent episodes namespace: medical_genetics xref: UMLS:C0032285 xref: UMLS:C0443287 is_a: HP:0002783 ! Recurrent lower respiratory tract infections [Term] id: HP:0006533 name: Bronchodysplasia, mild namespace: medical_genetics xref: UMLS:C0547040 is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0006535 name: Recurrent intrapulmonary hemorrhage namespace: medical_genetics def: "A `recurrent` (PATO:0000427) `hemorrhage` (MPATH:119) occurring within the `lung` (FMA:7195)." [HPO:gcarletti] xref: UMLS:C0019080 xref: UMLS:C0034897 xref: UMLS:C0442121 xref: UMLS:C1641131 is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0011029 ! Internal hemorrhage [Term] id: HP:0006536 name: Obstructive lung disease namespace: medical_genetics xref: UMLS:C0600260 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006538 name: Bronchopulmonary infection namespace: medical_genetics xref: UMLS:C0948783 is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0006539 name: Bronchial cartilage hypoplasia namespace: medical_genetics xref: UMLS:C0225604 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1280987 is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0006540 name: Congenital cystic disease of the lung namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0010709 xref: UMLS:C0024109 xref: UMLS:C0205207 xref: UMLS:C0242354 xref: UMLS:C0334054 xref: UMLS:C1278908 xref: UMLS:C1744681 is_a: HP:0005948 ! Cystic lung disease [Term] id: HP:0006541 name: Chronic obstructive airway disease from birth namespace: medical_genetics xref: UMLS:C0005615 xref: UMLS:C0024117 xref: UMLS:C1550722 is_a: HP:0006536 ! Obstructive lung disease [Term] id: HP:0006543 name: Cardiorespiratory arrest namespace: medical_genetics xref: UMLS:C0600228 is_a: HP:0005943 ! Respiratory arrest [Term] id: HP:0006544 name: Diaphragmatic sequestrum namespace: medical_genetics xref: UMLS:C0011980 xref: UMLS:C0333311 xref: UMLS:C2074875 is_a: HP:0000775 ! Abnormality of the diaphragm [Term] id: HP:0006545 name: Cystic adenomatoid lung disease namespace: medical_genetics xref: UMLS:C0001430 xref: UMLS:C0024109 xref: UMLS:C0334054 xref: UMLS:C1278908 is_a: HP:0005948 ! Cystic lung disease [Term] id: HP:0006548 name: Pulmonary arteriovenous malformation namespace: medical_genetics alt_id: HP:0002114 alt_id: HP:0006537 synonym: "Pulmonary arteriovenous malformation (PAVM), especially lower lobes" EXACT [] synonym: "Pulmonary av malformation" EXACT [] xref: UMLS:C0205555 xref: UMLS:C0235915 xref: UMLS:C0241790 xref: UMLS:C0441994 xref: UMLS:C0796494 xref: UMLS:C1428707 is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0100026 ! Arteriovenous malformations [Term] id: HP:0006549 name: Primary pulmonary dysgenesis, unilateral namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0024109 xref: UMLS:C0205092 xref: UMLS:C0205225 xref: UMLS:C0439631 is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0006550 name: Pulmonary agenesis, usually bilateral namespace: medical_genetics xref: UMLS:C0238767 xref: UMLS:C0265780 is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0006551 name: Pulmonary lymphangiectasia, congenital namespace: medical_genetics def: "A developmental disorder characterized by pulmonary lymphatic dilatation." [HPO:curators] xref: UMLS:C0009678 xref: UMLS:C1744681 xref: UMLS:C1855480 is_a: HP:0006521 ! Pulmonary lymphangiectasia [Term] id: HP:0006552 name: Fibrocystic lung disease namespace: medical_genetics xref: UMLS:C0010674 xref: UMLS:C0016033 xref: UMLS:C0016034 xref: UMLS:C0024109 xref: UMLS:C0024115 xref: UMLS:C1278908 is_a: HP:0005948 ! Cystic lung disease [Term] id: HP:0006554 name: Acute hepatic failure namespace: medical_genetics 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: UMLS:C0162557 is_a: HP:0001399 ! Hepatic failure [Term] id: HP:0006555 name: Diffuse hepatic steatosis namespace: medical_genetics def: "A `diffuse` (PATO:0001513) form of `hepatic steatosis` (HP:0001397)." [HPO:probinson] synonym: "Hepatic steatosis, diffuse" EXACT [] xref: UMLS:C0015695 xref: UMLS:C0205219 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0006557 name: Polycystic liver disease namespace: medical_genetics xref: UMLS:C0158683 xref: UMLS:C1418373 is_a: HP:0006706 ! Cystic liver disease [Term] id: HP:0006558 name: Decreased complex III activity in liver tissue namespace: medical_genetics xref: UMLS:C0736268 xref: UMLS:C1852380 is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006559 name: Hepatic calcification namespace: medical_genetics def: "The presence of abnormal `calcium deposition` (MPATH:36) in the `liver` (FMA:7197)." [HPO:probinson] synonym: "Liver calcifications" EXACT [] xref: UMLS:C1837258 is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0006560 name: Biliary hyperplasia, extrahepatic and intrahepatic namespace: medical_genetics def: "`Hyperplasia` (MPATH:134) of the `biliary tree` (FMA:14665)." [HPO:probinson] xref: UMLS:C0020507 xref: UMLS:C0521378 xref: UMLS:C1512948 xref: UMLS:C1517058 is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0006561 name: Lipid accumulation in hepatocytes namespace: medical_genetics xref: UMLS:C0227525 xref: UMLS:C1843926 is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006562 name: Viral hepatitis namespace: medical_genetics xref: UMLS:C0042721 xref: UMLS:C1963279 is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006563 name: Malformation of the hepatic ductal plate namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0734013 xref: UMLS:C1512083 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0006564 name: Fluctuating hepatomegaly namespace: medical_genetics def: "A `discontinuous` (PATO:0000690), i.e., intermittent form of `increased size` (PATO:0000586) of the `liver` (FMA:7197)." [HPO:probinson] xref: UMLS:C0019209 xref: UMLS:C0231241 is_a: HP:0002240 ! Hepatomegaly [Term] id: HP:0006565 name: Liver biopsy shows increased lipid droplets namespace: medical_genetics xref: UMLS:C0193388 xref: UMLS:C0205217 xref: UMLS:C0230704 xref: UMLS:C0442805 xref: UMLS:C1547282 is_a: HP:0006561 ! Lipid accumulation in hepatocytes [Term] id: HP:0006566 name: Neonatal cholestatic liver disease namespace: medical_genetics xref: UMLS:C1859162 is_a: HP:0002611 ! Cholestatic liver disease [Term] id: HP:0006568 name: Increased liver glycogen content namespace: medical_genetics xref: UMLS:C1856285 is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006570 name: Decreased liver function, progressive namespace: medical_genetics alt_id: HP:0005228 synonym: "Progressive deterioration of hepatic function" EXACT [] xref: UMLS:C0205329 xref: UMLS:C0232741 xref: UMLS:C0232744 xref: UMLS:C0868945 is_a: HP:0001410 ! Decreased liver function [Term] id: HP:0006571 name: Reduced number of intrahepatic bile ducts namespace: medical_genetics def: "The presence of `reduced numbers of ` (PATO:0001999) `intrahepatic bile duct` (FMA:15766) than normal." [HPO:probinson] synonym: "Intrahepatic duct deficiency" RELATED [] xref: UMLS:C1861621 is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct [Term] id: HP:0006572 name: Subacute progressive viral hepatitis namespace: medical_genetics xref: UMLS:C1861901 is_a: HP:0006562 ! Viral hepatitis [Term] id: HP:0006573 name: Acute hepatic steatosis namespace: medical_genetics def: "An `acute` (PATO:0000389) form of `hepatic steatosis` (HP:0001397)." [HPO:probinson] xref: UMLS:C0205178 xref: UMLS:C1850415 is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0006574 name: Hepatic arteriovenous malformation namespace: medical_genetics alt_id: HP:0006569 synonym: "Liver arteriovenous malformation" EXACT [] xref: UMLS:C0520557 is_a: HP:0006707 ! Abnormality of the hepatic vasculature is_a: HP:0100026 ! Arteriovenous malformations [Term] id: HP:0006575 name: Intrahepatic cholestasis with episodic jaundice namespace: medical_genetics xref: UMLS:C0008372 xref: UMLS:C0022346 xref: UMLS:C1455761 xref: UMLS:C2203646 is_a: HP:0001406 ! Intrahepatic cholestasis [Term] id: HP:0006576 name: Hepatic vascular malformations namespace: medical_genetics xref: UMLS:C1861790 is_a: HP:0006707 ! Abnormality of the hepatic vasculature [Term] id: HP:0006577 name: Macronodular cirrhosis namespace: medical_genetics def: "A type of `cirrhosis` (HP:0001394) 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 is_a: HP:0001394 ! Cirrhosis [Term] id: HP:0006578 name: Subclinical abnormal liver function tests namespace: medical_genetics def: "An abnormality of the liver function tests that is observed in a person with no other clinical symptoms attributable to liver dysfunction." [HPO:curators] xref: UMLS:C1842003 is_a: HP:0001411 ! Abnormal liver function tests [Term] id: HP:0006579 name: Prolonged neonatal jaundice namespace: medical_genetics xref: UMLS:C1859236 is_a: HP:0000986 ! Neonatal jaundice [Term] id: HP:0006580 name: Mild portal fibrosis namespace: medical_genetics xref: UMLS:C1846062 is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0006581 name: Liver tissue shows 80 to 99% depletion of mitochondrial DNA namespace: medical_genetics xref: UMLS:C0012929 xref: UMLS:C0333668 xref: UMLS:C0736268 xref: UMLS:C1547282 xref: UMLS:C1819717 is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006582 name: Reye syndrome-like episodes namespace: medical_genetics xref: UMLS:C0035400 xref: UMLS:C0332189 is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006583 name: Fatal liver failure in infancy namespace: medical_genetics xref: UMLS:C0085605 xref: UMLS:C0231330 xref: UMLS:C0441804 xref: UMLS:C1302234 is_a: HP:0001399 ! Hepatic failure [Term] id: HP:0006584 name: Small abnormally formed scapulae namespace: medical_genetics alt_id: HP:0006629 synonym: "Small abnormally formed scapula" EXACT [] xref: UMLS:C1861226 is_a: HP:0000882 ! Hypoplastic scapulae [Term] id: HP:0006585 name: Thin, dysplastic bipartite clavicles namespace: medical_genetics xref: UMLS:C0205168 xref: UMLS:C0334045 xref: UMLS:C0426806 is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0006587 name: Long, straight clavicles namespace: medical_genetics xref: UMLS:C0426808 xref: UMLS:C0445291 is_a: HP:0000890 ! Long clavicles [Term] id: HP:0006588 name: Low chest circumference namespace: medical_genetics xref: UMLS:C0205251 xref: UMLS:C0424683 xref: UMLS:C1299352 xref: UMLS:C1550472 is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0006589 name: Flaring of lower rib cage namespace: medical_genetics xref: UMLS:C0222762 xref: UMLS:C0441994 xref: UMLS:C1517205 is_a: HP:0000904 ! Flaring of rib cage [Term] id: HP:0006590 name: Hypoplastic or prematurely closed sternal sutures namespace: medical_genetics xref: UMLS:C0038293 xref: UMLS:C0038969 xref: UMLS:C0205252 xref: UMLS:C0502420 xref: UMLS:C0543481 xref: UMLS:C0587267 xref: UMLS:C0677512 is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0006591 name: Flat or absent glenoid fossae namespace: medical_genetics xref: UMLS:C0205324 xref: UMLS:C0332197 xref: UMLS:C0457933 xref: UMLS:C1261046 is_a: HP:0000911 ! Flat glenoid fossa [Term] id: HP:0006592 name: Long, slender, straight clavicles namespace: medical_genetics xref: UMLS:C0008913 xref: UMLS:C0205166 xref: UMLS:C0445291 xref: UMLS:C1706317 is_a: HP:0000890 ! Long clavicles [Term] id: HP:0006593 name: Anomalous rib insertion to vertebrae namespace: medical_genetics xref: UMLS:C0021107 xref: UMLS:C0441587 xref: UMLS:C0549207 xref: UMLS:C1512796 xref: UMLS:C1705421 xref: UMLS:C1859375 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006595 name: Scapulohumeral synostosis namespace: medical_genetics alt_id: HP:0010792 def: "Bony fusion between the humerus and scapula, leading to an impairment in mobility of the affected shoulder joint." [HPO:curators] synonym: "Humero-scapulo synostosis" EXACT [] synonym: "Humeroscapular synostosis " EXACT [] synonym: "Synostosis of shoulder joint" EXACT [] xref: UMLS:C0037009 xref: UMLS:C0039093 xref: UMLS:C0391889 xref: UMLS:C1269056 xref: UMLS:C1368355 xref: UMLS:C1865362 is_a: HP:0000782 ! Abnormality of the scapulae is_a: HP:0003043 ! Abnormality of the shoulder is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0100022 ! Abnormality of movement is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0006596 name: Restricted chest movement namespace: medical_genetics xref: UMLS:C0231896 xref: UMLS:C0443288 is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0006597 name: Diaphragmatic paralysis namespace: medical_genetics def: "The presence of a `paralyzed` (PATO:0000763) `diaphragm` (FMA:13295)." [HPO:probinson] comment: Loss of the ability to move the diaphragm for respiratory motions. xref: UMLS:C0035232 is_a: HP:0000775 ! Abnormality of the diaphragm [Term] id: HP:0006598 name: Irregular ossification at anterior rib ends namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0205271 xref: UMLS:C0444930 xref: UMLS:C1272693 xref: UMLS:C1508663 xref: UMLS:C1522314 is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0006599 name: Medial widening of clavicles namespace: medical_genetics xref: UMLS:C0008913 xref: UMLS:C0205098 xref: UMLS:C0332464 is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0006600 name: Progressive calcification of costochondral cartilage namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0007301 xref: UMLS:C0175895 xref: UMLS:C0205329 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0000919 ! Abnormalities of the costochondral junction is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0006601 name: Anteriorly splayed ribs namespace: medical_genetics xref: UMLS:C1866708 is_a: HP:0000904 ! Flaring of rib cage [Term] id: HP:0006603 name: Flared, irregular rib ends namespace: medical_genetics xref: UMLS:C0035561 xref: UMLS:C0205271 xref: UMLS:C0444930 xref: UMLS:C1272693 xref: UMLS:C1281577 xref: UMLS:C1517205 xref: UMLS:C1522314 is_a: HP:0000904 ! Flaring of rib cage [Term] id: HP:0006606 name: Irregular chondrocostal junctions namespace: medical_genetics xref: UMLS:C1861199 is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0006607 name: Precocious costochondral ossification namespace: medical_genetics xref: UMLS:C1849049 is_a: HP:0000919 ! Abnormalities of the costochondral junction is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0006608 name: Midclavicular hypoplasia namespace: medical_genetics xref: UMLS:C1844530 is_a: HP:0000898 ! Hypoplastic clavicles [Term] id: HP:0006609 name: Hypoplastic nipples and areolae namespace: medical_genetics xref: UMLS:C0222608 xref: UMLS:C1853630 is_a: HP:0002557 ! Hypoplastic nipples [Term] id: HP:0006610 name: Wide intermamillary distance namespace: medical_genetics alt_id: HP:0000779 alt_id: HP:0001554 synonym: "Wide-spaced nipples" EXACT [] synonym: "Widely spaced nipples" EXACT [] synonym: "Widely-spaced nipples" EXACT [] xref: UMLS:C0012751 xref: UMLS:C0332464 xref: UMLS:C1827524 xref: UMLS:C1865006 is_a: HP:0004404 ! Abnormality of the nipple [Term] id: HP:0006611 name: Decreased number of sternal ossification centers namespace: medical_genetics xref: UMLS:C0038293 xref: UMLS:C0205216 xref: UMLS:C0237753 xref: UMLS:C0392756 xref: UMLS:C0449788 xref: UMLS:C1184744 xref: UMLS:C1305744 is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0006612 name: Clavicle pseudoarthrosis namespace: medical_genetics alt_id: HP:0006661 def: "Pseudarthrosis, a false joint associated with abnormal movement often related to a spontaneous congenital fracture which progresses to non union. This term refers to pseudarthrosis affecting the clavicle." [HPO:curators] synonym: "Pseudoarthrosis of clavicle" EXACT [] xref: UMLS:C0008913 xref: UMLS:C0033785 xref: UMLS:C1279070 is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0006613 name: Mild pectus excavatum namespace: medical_genetics alt_id: HP:0006617 def: "A mild degree of pectus excavatum (defect of the chest wall characterized by depression of the sternum)." [HPO:curators] synonym: "Slight pectus excavatum" EXACT [] xref: UMLS:C0016842 xref: UMLS:C0547040 is_a: HP:0000767 ! Pectus excavatum [Term] id: HP:0006615 name: Absent in utero rib ossification namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0035561 xref: UMLS:C0042149 xref: UMLS:C0332197 xref: UMLS:C1281577 is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0006619 name: Anterior rib punctate calcifications namespace: medical_genetics xref: UMLS:C1859120 is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0006620 name: Enlargement and bulging of the costochondral junction namespace: medical_genetics xref: UMLS:C0020564 xref: UMLS:C0038999 xref: UMLS:C0224683 xref: UMLS:C1293134 xref: UMLS:C1305095 is_a: HP:0000920 ! Enlargement of the costochondral junction [Term] id: HP:0006621 name: Congenital, upward displacement of the scapula namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0036277 xref: UMLS:C0333045 xref: UMLS:C1281575 xref: UMLS:C1744681 is_a: HP:0000782 ! Abnormality of the scapulae [Term] id: HP:0006622 name: Anterior and posterior rib cupping namespace: medical_genetics xref: UMLS:C0035561 xref: UMLS:C0205094 xref: UMLS:C0205095 xref: UMLS:C0394663 xref: UMLS:C1281577 is_a: HP:0000922 ! Posterior rib cupping [Term] id: HP:0006623 name: Widened, sclerotic costochondral joints namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0224683 xref: UMLS:C0332464 xref: UMLS:C0334135 is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0006624 name: Sternal ossification center abnormalities namespace: medical_genetics xref: UMLS:C1860243 is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0006625 name: Breast cancer, frequently bilateral and multifocal namespace: medical_genetics xref: UMLS:C0006142 xref: UMLS:C0205292 xref: UMLS:C0238767 xref: UMLS:C0332183 xref: UMLS:C0678222 is_a: HP:0003002 ! Breast carcinoma [Term] id: HP:0006626 name: Narrow, bell-shaped thorax namespace: medical_genetics xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1843692 is_a: HP:0001591 ! Bell-shaped chest [Term] id: HP:0006628 name: Absent sternal ossification namespace: medical_genetics alt_id: HP:0006666 synonym: "Lack of sternal ossification" EXACT [] xref: UMLS:C0029433 xref: UMLS:C0038293 xref: UMLS:C0332268 xref: UMLS:C1857666 is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0006631 name: Hypoplastic distal segments of scapulae namespace: medical_genetics xref: UMLS:C0036277 xref: UMLS:C0205108 xref: UMLS:C0441635 xref: UMLS:C0543481 is_a: HP:0000882 ! Hypoplastic scapulae [Term] id: HP:0006632 name: Hypoplastic glenoid fossa namespace: medical_genetics xref: UMLS:C1833138 is_a: HP:0000911 ! Flat glenoid fossa [Term] id: HP:0006633 name: Glenoid hypoplasia namespace: medical_genetics 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:curators] xref: UMLS:C1834384 is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0006634 name: Anterior cupping and sclerosis of ribs namespace: medical_genetics xref: UMLS:C0035561 xref: UMLS:C0036429 xref: UMLS:C0205094 xref: UMLS:C0394663 is_a: HP:0000907 ! Anterior rib cupping [Term] id: HP:0006635 name: Anterior and posterior rib flaring namespace: medical_genetics xref: UMLS:C0035561 xref: UMLS:C0205094 xref: UMLS:C0205095 xref: UMLS:C1281577 xref: UMLS:C1517205 is_a: HP:0000904 ! Flaring of rib cage [Term] id: HP:0006636 name: Hypoplastic or missing ribs namespace: medical_genetics xref: UMLS:C0426816 xref: UMLS:C0543481 is_a: HP:0000908 ! Hypoplastic ribs [Term] id: HP:0006637 name: Sternal punctate calcifications namespace: medical_genetics xref: UMLS:C1859121 is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0006638 name: Midclavicular aplasia namespace: medical_genetics xref: UMLS:C1844529 is_a: HP:0000898 ! Hypoplastic clavicles [Term] id: HP:0006639 name: Pectus carinatum, severe namespace: medical_genetics def: "The presence of a severe degree of pectus carinatum." [HPO:curators] xref: UMLS:C0158731 xref: UMLS:C0205082 xref: UMLS:C1519275 is_a: HP:0000768 ! Pectus carinatum [Term] id: HP:0006640 name: Multiple rib fractures namespace: medical_genetics xref: UMLS:C0016658 xref: UMLS:C0035561 xref: UMLS:C0439064 xref: UMLS:C1281577 xref: UMLS:C1880851 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006641 name: Prominent floating ribs namespace: medical_genetics xref: UMLS:C0205402 xref: UMLS:C0223073 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006642 name: Large sternal ossification centers namespace: medical_genetics xref: UMLS:C1865241 is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0006643 name: Fused sternal ossification centers namespace: medical_genetics xref: UMLS:C1859376 is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0006644 name: Thoracic dysplasia namespace: medical_genetics xref: UMLS:C0334044 is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0006645 name: Thin, long clavicles namespace: medical_genetics xref: UMLS:C0205168 xref: UMLS:C0426808 is_a: HP:0000890 ! Long clavicles [Term] id: HP:0006646 name: Costal cartilage calcification namespace: medical_genetics xref: UMLS:C1857257 is_a: HP:0006662 ! Cartilaginous ossification of rib is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0006647 name: Congenital microthorax namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C1744681 is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0006648 name: Mild clavicular sclerosis namespace: medical_genetics xref: UMLS:C1840406 is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0006649 name: Costochondral pain namespace: medical_genetics xref: UMLS:C0030193 xref: UMLS:C1962977 xref: UMLS:C2364139 is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0006650 name: Thickening of the lateral border of the scapula namespace: medical_genetics xref: UMLS:C0036277 xref: UMLS:C0205093 xref: UMLS:C0205284 xref: UMLS:C0205400 xref: UMLS:C1281575 xref: UMLS:C1522411 is_a: HP:0000782 ! Abnormality of the scapulae [Term] id: HP:0006651 name: Short, broad clavicles namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0426801 xref: UMLS:C0426807 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0000916 ! Broad clavicles [Term] id: HP:0006652 name: Breast and nipple hypoplasia/aplasia namespace: medical_genetics xref: UMLS:C0006141 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0432355 xref: UMLS:C1268990 is_a: HP:0002557 ! Hypoplastic nipples [Term] id: HP:0006654 name: Absent sternal mineralization namespace: medical_genetics xref: UMLS:C1861926 is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0006655 name: Rib segmentation abnormalities namespace: medical_genetics xref: UMLS:C1968999 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006657 name: Hypoplasia of first ribs namespace: medical_genetics alt_id: HP:0006614 alt_id: HP:0006653 synonym: "Hypoplastic first rib" EXACT [] synonym: "Hypoplastic first ribs" EXACT [] xref: UMLS:C0222819 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1279096 xref: UMLS:C1835151 xref: UMLS:C1849299 is_a: HP:0000908 ! Hypoplastic ribs [Term] id: HP:0006658 name: Irregular costochondral margins namespace: medical_genetics xref: UMLS:C1855176 is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0006659 name: Internally rotated shoulders namespace: medical_genetics xref: UMLS:C1862491 is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0006660 name: Aplastic clavicles namespace: medical_genetics xref: UMLS:C1861518 is_a: HP:0000898 ! Hypoplastic clavicles [Term] id: HP:0006662 name: Cartilaginous ossification of rib namespace: medical_genetics xref: UMLS:C0035561 xref: UMLS:C0231561 xref: UMLS:C1281577 is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0004348 ! Abnormality of bone mineral density [Term] id: HP:0006663 name: Rounded, sloping shoulders namespace: medical_genetics xref: UMLS:C0332490 xref: UMLS:C1856872 is_a: HP:0001556 ! Sloping shoulders is_a: HP:0200021 ! Rounded shoulders [Term] id: HP:0006664 name: Constricted, bell-shaped thorax namespace: medical_genetics xref: UMLS:C1444778 xref: UMLS:C1843692 is_a: HP:0001591 ! Bell-shaped chest [Term] id: HP:0006665 name: 'Coat hanger' deformity of lower ribs namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0035561 xref: UMLS:C0221430 xref: UMLS:C0302142 xref: UMLS:C0441994 xref: UMLS:C0453946 xref: UMLS:C0544691 xref: UMLS:C1705944 xref: UMLS:C1823998 xref: UMLS:C2117111 is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006668 name: Twelfth rib hypoplasia namespace: medical_genetics xref: UMLS:C1859361 is_a: HP:0000908 ! Hypoplastic ribs [Term] id: HP:0006670 name: Impaired myocardial contractility namespace: medical_genetics xref: UMLS:C0027045 xref: UMLS:C0221099 xref: UMLS:C0684336 is_a: HP:0006673 ! Reduced systolic function [Term] id: HP:0006671 name: Paroxysmal atrial tachycardia namespace: medical_genetics xref: UMLS:C0030587 is_a: HP:0004763 ! Paroxysmal supraventricular tachycardia [Term] id: HP:0006672 name: Congenital heart block namespace: medical_genetics xref: UMLS:C0149530 is_a: HP:0001668 ! Heart block [Term] id: HP:0006673 name: Reduced systolic function namespace: medical_genetics xref: UMLS:C0031843 xref: UMLS:C0039155 xref: UMLS:C0392756 xref: UMLS:C0542341 xref: UMLS:C0700205 xref: UMLS:C1315032 xref: UMLS:C1705273 is_a: HP:0001635 ! Congestive heart failure [Term] id: HP:0006674 name: Partial atrially displaced right ventricle namespace: medical_genetics xref: UMLS:C0012727 xref: UMLS:C0018792 xref: UMLS:C0225883 xref: UMLS:C0728938 xref: UMLS:C1269891 xref: UMLS:C1550516 is_a: HP:0001707 ! Right ventricular abnormality [Term] id: HP:0006675 name: Atrioventricular valves thickened namespace: medical_genetics xref: UMLS:C0205400 xref: UMLS:C0225924 is_a: HP:0006705 ! Abnormality of the atrioventricular valves [Term] id: HP:0006676 name: Ventricular preexcitation namespace: medical_genetics xref: UMLS:C0559106 is_a: HP:0004308 ! Ventricular arrhythmia is_a: HP:0004309 ! Pre-excitation syndromes [Term] id: HP:0006677 name: Short pr interval and prolonged qrs, with slurred-up stroke of the r wave on ekg namespace: medical_genetics xref: UMLS:C0038454 xref: UMLS:C0234518 xref: UMLS:C0429091 xref: UMLS:C0439590 xref: UMLS:C0520878 xref: UMLS:C1623258 is_a: HP:0005165 ! Shortened P-R interval on EKG [Term] id: HP:0006679 name: Granulomatous coronary arteritis namespace: medical_genetics xref: UMLS:C0018202 xref: UMLS:C0018787 xref: UMLS:C0264684 xref: UMLS:C0439667 is_a: HP:0006704 ! Abnormality of the coronary arteries [Term] id: HP:0006680 name: Hypoplastic/atretic transverse aortic arch namespace: medical_genetics xref: UMLS:C0003489 xref: UMLS:C0205106 xref: UMLS:C0243066 xref: UMLS:C0543481 xref: UMLS:C1269010 xref: UMLS:C2119047 is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0006681 name: Absent atrioventricular node namespace: medical_genetics xref: UMLS:C0004247 xref: UMLS:C0332197 is_a: HP:0005142 ! Atrioventricular nodal disease [Term] id: HP:0006682 name: Ventricular extrasystoles namespace: medical_genetics 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: UMLS:C0151636 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0006683 name: Ventricular filling abnormal namespace: medical_genetics xref: UMLS:C0018827 xref: UMLS:C0205161 xref: UMLS:C1522565 xref: UMLS:C2347472 is_a: HP:0001713 ! Abnormality of the cardiac ventricle [Term] id: HP:0006684 name: Higher incidence of multiple accessory pathways namespace: medical_genetics xref: UMLS:C0006383 xref: UMLS:C0021149 xref: UMLS:C0205250 xref: UMLS:C0220856 xref: UMLS:C0264897 xref: UMLS:C0439064 xref: UMLS:C1299351 xref: UMLS:C1522410 is_a: HP:0004309 ! Pre-excitation syndromes [Term] id: HP:0006685 name: Endocardial fibrosis namespace: medical_genetics alt_id: HP:0005169 def: "The presence of excessive connective tissue in the `endocardium` (FMA:7280)." [HPO:probinson] synonym: "Endomyocardial fibrosis" EXACT [] xref: UMLS:C0235970 xref: UMLS:C0553980 xref: UMLS:C1959600 is_a: HP:0004306 ! Abnormality of the endocardium [Term] id: HP:0006687 name: Tortuosity and elongation, all major arteries and aorta namespace: medical_genetics xref: UMLS:C0003483 xref: UMLS:C0333076 xref: UMLS:C0682605 xref: UMLS:C1278934 is_a: HP:0004948 ! Vascular tortuosity [Term] id: HP:0006688 name: Paroxysmal tachycardia namespace: medical_genetics xref: UMLS:C0039236 is_a: HP:0001649 ! Tachycardia [Term] id: HP:0006689 name: Bacterial endocarditis susceptible namespace: medical_genetics xref: UMLS:C0014121 xref: UMLS:C0231204 is_a: HP:0100584 ! Endocarditis [Term] id: HP:0006690 name: Myocardial calcification namespace: medical_genetics def: "`Calcium deposition` (MPATH:36) in the `myocardium` (FMA:9462)." [HPO:probinson] comment: Calcification affecting the muscle layer of the heart. xref: UMLS:C1096561 is_a: HP:0001627 ! Abnormality of the heart is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0006691 name: Pulmonic valve myxoma namespace: medical_genetics xref: UMLS:C0027149 xref: UMLS:C0034086 is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0006692 name: Short and irregular chordae namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C1011714 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0001713 ! Abnormality of the cardiac ventricle [Term] id: HP:0006693 name: Myocardial steatosis namespace: medical_genetics def: "`Steatosis` (MPATH:622) in the `myocardium` (FMA:9462)." [HPO:probinson] xref: UMLS:C0027061 xref: UMLS:C0152254 xref: UMLS:C1522564 is_a: HP:0001627 ! Abnormality of the heart [Term] id: HP:0006694 name: Early progressive calcific cardiac valvular disease namespace: medical_genetics xref: UMLS:C0018824 xref: UMLS:C0205329 xref: UMLS:C1279919 xref: UMLS:C1533591 is_a: HP:0005146 ! Calcifications of the cardiac valves [Term] id: HP:0006695 name: Tricuspid and mitral valves are replaced by a single inlet valve namespace: medical_genetics xref: UMLS:C0026264 xref: UMLS:C0037179 xref: UMLS:C0087136 xref: UMLS:C0184252 xref: UMLS:C0205171 xref: UMLS:C0443327 xref: UMLS:C0559956 xref: UMLS:C1186983 xref: UMLS:C1704414 is_a: HP:0006705 ! Abnormality of the atrioventricular valves [Term] id: HP:0006696 name: Polymorphic and polytopic ventricular extrasystoles namespace: medical_genetics xref: UMLS:C0151636 xref: UMLS:C1882417 is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0006698 name: Ventricular aneurysms namespace: medical_genetics xref: UMLS:C0392464 is_a: HP:0001713 ! Abnormality of the cardiac ventricle is_a: HP:0002617 ! Aneurysm [Term] id: HP:0006699 name: Ectopic supraventricular rhythms namespace: medical_genetics xref: UMLS:C2348376 is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0006702 name: Spontaneous coronary artery dissection namespace: medical_genetics xref: UMLS:C1852540 is_a: HP:0006704 ! Abnormality of the coronary arteries [Term] id: HP:0006703 name: Aplasia/Hypoplasia of the lungs namespace: medical_genetics xref: UMLS:C0024109 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0205042 xref: UMLS:C1704258 is_a: HP:0002620 ! Systemic artery abnormality created_by: peter creation_date: 2008-03-29T03:33:00Z [Term] id: HP:0006705 name: Abnormality of the atrioventricular valves namespace: medical_genetics def: "An abnormality of an `atrioventricular valve` (FMA:7233)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0225924 xref: UMLS:C1704258 is_a: HP:0001654 ! Abnormality of the heart valves created_by: peter creation_date: 2008-03-29T03:34:00Z [Term] id: HP:0006706 name: Cystic liver disease namespace: medical_genetics xref: UMLS:C0010709 xref: UMLS:C0023884 xref: UMLS:C0023895 xref: UMLS:C0205207 xref: UMLS:C0334054 xref: UMLS:C1278929 xref: UMLS:C2186532 xref: UMLS:C2346688 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 namespace: medical_genetics def: "An abnormality of the `hepatic vasculature` (FMA:73748)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C1183745 xref: UMLS:C1704258 is_a: HP:0001392 ! Abnormality of the liver created_by: peter creation_date: 2008-03-29T03:41:00Z [Term] id: HP:0006709 name: Aplasia/Hypoplasia of the nipples namespace: medical_genetics alt_id: HP:0006602 alt_id: HP:0006669 synonym: "Absent/rudimentary nipples" EXACT [] synonym: "Nipples absent or rudimentary" EXACT [] xref: UMLS:C0028109 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1302058 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 namespace: medical_genetics def: "Absence or underdevelopment of the clavicles (collar bones)." [HPO:curators] xref: UMLS:C0008913 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 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 namespace: medical_genetics xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0262950 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0817096 xref: UMLS:C1266909 xref: UMLS:C1269614 xref: UMLS:C1314939 xref: UMLS:C1456858 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 namespace: medical_genetics xref: UMLS:C0035561 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 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 namespace: medical_genetics xref: UMLS:C0036277 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 is_a: HP:0000782 ! Abnormality of the scapulae 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 namespace: medical_genetics xref: UMLS:C0038293 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1279580 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 namespace: medical_genetics alt_id: HP:0002892 synonym: "Tympanic nerve tumors" EXACT [] synonym: "Tympanic nerve tumors (glomus tympanicum)" EXACT [] xref: UMLS:C0027651 xref: UMLS:C0205878 xref: UMLS:C0228760 xref: UMLS:C1281234 is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0006716 name: Hereditary nonpolyposis colorectal carcinoma namespace: medical_genetics xref: UMLS:C0009402 xref: UMLS:C0439660 is_a: HP:0007378 ! Gastrointestinal tract neoplasia [Term] id: HP:0006717 name: Peripheral neuroepithelioma namespace: medical_genetics xref: UMLS:C0684337 is_a: HP:0100007 ! Neoplasia of the peripheral nervous system [Term] id: HP:0006718 name: Increased risk of colorectal cancer namespace: medical_genetics xref: UMLS:C0009402 xref: UMLS:C0035647 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C1527249 is_a: HP:0007378 ! Gastrointestinal tract neoplasia is_a: HP:0100273 ! Neoplasia of the colon [Term] id: HP:0006719 name: Benign gastrointestinal tract tumors namespace: medical_genetics xref: UMLS:C0497538 is_a: HP:0007378 ! Gastrointestinal tract neoplasia [Term] id: HP:0006721 name: Acute lymphatic leukemia namespace: medical_genetics alt_id: HP:0004803 alt_id: HP:0005555 def: "A form of acute leukemia characterized by excess lympoblasts." [HPO:curators] synonym: "Acute lymphoblastic leukemia" EXACT [] synonym: "Acute lymphoid leukemia" EXACT [] xref: UMLS:C0023449 xref: UMLS:C1961102 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0006722 name: Small intestine carcinoid namespace: medical_genetics xref: UMLS:C1868072 is_a: HP:0007378 ! Gastrointestinal tract neoplasia is_a: HP:0100570 ! Carcinoid [Term] id: HP:0006723 name: Intestinal carcinoid namespace: medical_genetics xref: UMLS:C0007095 xref: UMLS:C0021853 is_a: HP:0007378 ! Gastrointestinal tract neoplasia is_a: HP:0100570 ! Carcinoid [Term] id: HP:0006725 name: Pancreatic adenocarcinoma namespace: medical_genetics def: "The presence of an `adenocarcinoma` (MPATH:268) of the `pancreas` (FMA:7198)." [HPO:probinson] xref: UMLS:C0281361 is_a: HP:0002894 ! Neoplasm of the pancreas [Term] id: HP:0006726 name: Increased risk of leukemia namespace: medical_genetics xref: UMLS:C0023418 xref: UMLS:C0035647 xref: UMLS:C0205217 xref: UMLS:C0442805 is_a: HP:0001909 ! Leukemia [Term] id: HP:0006727 name: T-cell acute lymphoblastic leukemias namespace: medical_genetics xref: UMLS:C0023493 xref: UMLS:C1961099 is_a: HP:0006721 ! Acute lymphatic leukemia [Term] id: HP:0006729 name: Retroperitoneal chemodectomas namespace: medical_genetics xref: UMLS:C0007279 xref: UMLS:C0030421 xref: UMLS:C0030422 xref: UMLS:C0035359 is_a: HP:0002664 ! Neoplasia [Term] id: HP:0006730 name: Myelodysplastic syndrome namespace: medical_genetics xref: UMLS:C0026986 is_a: HP:0002863 ! Myelodysplasia [Term] id: HP:0006731 name: Follicular thyroid carcinoma namespace: medical_genetics def: "The presence of an `follicular adenocarcinoma` (MPATH:278) of the `thyroid gland` (FMA:9603)." [HPO:probinson] xref: UMLS:C0206682 is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0006732 name: Renal cell carcinoma, solitary papillary type II namespace: medical_genetics xref: UMLS:C0007134 xref: UMLS:C0205171 xref: UMLS:C0205312 xref: UMLS:C0441730 is_a: HP:0005584 ! Renal cell carcinoma [Term] id: HP:0006733 name: Acute megakaryocytic leukemia namespace: medical_genetics xref: UMLS:C0023462 is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0006735 name: Renal cortical adenoma namespace: medical_genetics def: "The presence of an `adenoma` (MPATH:270) in the `cortex of the kidney` (FMA:15581)." [HPO:probinson] xref: UMLS:C1840399 is_a: HP:0009726 ! Renal neoplasm [Term] id: HP:0006736 name: Xeroderma pigmentosum complementation group G namespace: medical_genetics xref: UMLS:C0268141 is_a: HP:0007415 ! Xeroderma pigmentosum [Term] id: HP:0006737 name: Pheochromocytoma, extraadrenal namespace: medical_genetics 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:curators] synonym: "Pheochromocytomas, extraadrenal" EXACT [] xref: UMLS:C0031511 xref: UMLS:C1706920 is_a: HP:0002666 ! Pheochromocytoma [Term] id: HP:0006738 name: Neuroblastoma, arises anywhere along the sympathetic chain namespace: medical_genetics xref: UMLS:C0027819 xref: UMLS:C0228972 xref: UMLS:C0700095 xref: UMLS:C1268988 is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006739 name: Squamous cell carcinoma of the skin namespace: medical_genetics 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 [] xref: UMLS:C0007137 xref: UMLS:C0444099 xref: UMLS:C0699893 xref: UMLS:C1123023 xref: UMLS:C1182670 xref: UMLS:C1278993 is_a: HP:0002860 ! Squamous cell carcinoma [Term] id: HP:0006740 name: Transitional cell carcinoma of the bladder namespace: medical_genetics def: "The presence of a `carcinoma` (MPATH:549) of the `urinary bladder` (FMA:15900) with origin in a `transitional epithelial cell` (CL:0000244)." [HPO:probinson] synonym: "Transitional cell bladder carcinoma" EXACT [] xref: UMLS:C0005682 xref: UMLS:C0007138 xref: UMLS:C1281573 is_a: HP:0002862 ! Bladder carcinoma [Term] id: HP:0006741 name: Increased risk of malignancy namespace: medical_genetics xref: UMLS:C0006826 xref: UMLS:C0035647 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C1306459 is_a: HP:0002664 ! Neoplasia [Term] id: HP:0006742 name: Congenital neuroblastoma namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0027819 xref: UMLS:C0700095 xref: UMLS:C1744681 is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006743 name: Embryonal rhabdomyosarcoma namespace: medical_genetics xref: UMLS:C0206656 is_a: HP:0002859 ! Rhabdomyosarcoma [Term] id: HP:0006744 name: Adrenocortical carcinoma namespace: medical_genetics alt_id: HP:0006759 synonym: "Adrenocortical carcinomas" EXACT [] xref: UMLS:C0206686 is_a: HP:0002889 ! Adrenal carcinoma is_a: HP:0100641 ! Cortical adrenal neoplasia [Term] id: HP:0006747 name: Ganglioneuroblastoma namespace: medical_genetics xref: UMLS:C0206718 is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006748 name: Adrenal pheochromocytoma namespace: medical_genetics alt_id: HP:0006752 def: "Pheochromocytoma originating from the adrenal medulla." [HPO:curators] synonym: "Pheochromocytoma, adrenal" EXACT [] synonym: "Pheochromocytomas, adrenal" EXACT [] xref: UMLS:C0001625 xref: UMLS:C0031511 xref: UMLS:C0521428 xref: UMLS:C1706920 is_a: HP:0002666 ! Pheochromocytoma is_a: HP:0100642 ! Medullar adrenal neoplasia [Term] id: HP:0006749 name: Malignant gastrointestinal tract tumors namespace: medical_genetics xref: UMLS:C1834727 is_a: HP:0007378 ! Gastrointestinal tract neoplasia [Term] id: HP:0006751 name: Spinal/paraspinal neurofibromas namespace: medical_genetics xref: UMLS:C0027830 xref: UMLS:C0442145 xref: UMLS:C0521329 is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0006753 name: Neoplasm of the stomach namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `stomach` (FMA:7148)." [HPO:probinson] synonym: "Increased gastric cancer" RELATED [] synonym: "Neoplasia of the stomach" RELATED [] xref: UMLS:C0024623 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C0699791 is_a: HP:0002577 ! Abnormality of the stomach is_a: HP:0007378 ! Gastrointestinal tract neoplasia [Term] id: HP:0006754 name: Posterior fossa and upper cervical meningiomas namespace: medical_genetics xref: UMLS:C0025286 xref: UMLS:C0205064 xref: UMLS:C1116439 xref: UMLS:C1282910 is_a: HP:0002858 ! Meningioma [Term] id: HP:0006755 name: Cutaneous leiomyosarcoma namespace: medical_genetics def: "The presence of `leiomyosarcoma` (MPATH:426) of the `skin` (FMA:7163)." [HPO:probinson] xref: UMLS:C0346067 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0100243 ! Leiomyosarcoma [Term] id: HP:0006756 name: Diffuse leiomyomatosis namespace: medical_genetics xref: UMLS:C0205219 xref: UMLS:C0206654 is_a: HP:0002664 ! Neoplasia [Term] id: HP:0006757 name: Increased alveolar cell carcinoma namespace: medical_genetics xref: UMLS:C0007120 xref: UMLS:C0205217 xref: UMLS:C0442805 is_a: HP:0006519 ! Alveolar cell carcinoma [Term] id: HP:0006758 name: Malignant genitourinary tract tumor namespace: medical_genetics def: "The presence of a `malignant` (PATO:0002097) `neoplasm` (MPATH:218) of the `genital system` (7160)." [HPO:probinson] xref: UMLS:C1834728 is_a: HP:0007379 ! Genitourinary tract neoplasm [Term] id: HP:0006762 name: Renal pelvic carcinoma namespace: medical_genetics def: "The presence of a `carcinoma` (MPATH:549) in the `renal pelvis` (FMA:15575)." [HPO:probinson] xref: UMLS:C0007097 xref: UMLS:C0007134 xref: UMLS:C0030797 xref: UMLS:C0227666 xref: UMLS:C1378703 is_a: HP:0009726 ! Renal neoplasm [Term] id: HP:0006763 name: Anal canal squamous carcinoma namespace: medical_genetics xref: UMLS:C0563211 xref: UMLS:C1182670 is_a: HP:0007378 ! Gastrointestinal tract neoplasia [Term] id: HP:0006765 name: Chondrosarcoma namespace: medical_genetics xref: UMLS:C0008479 xref: UMLS:C0035647 xref: UMLS:C0205217 xref: UMLS:C0442805 is_a: HP:0006741 ! Increased risk of malignancy is_a: HP:0100242 ! Sarcoma [Term] id: HP:0006766 name: Papillary renal cell carcinoma namespace: medical_genetics def: "The presence of `renal cell carcinomas` (HP:0005584) in the `renal papilla` (FMA:15622)." [HPO:probinson] xref: UMLS:C0007134 xref: UMLS:C1306837 is_a: HP:0005584 ! Renal cell carcinoma [Term] id: HP:0006767 name: Prolactin-secreting pituitary adenoma namespace: medical_genetics xref: UMLS:C0033375 is_a: HP:0002893 ! Pituitary adenoma [Term] id: HP:0006768 name: Localized neuroblastoma namespace: medical_genetics xref: UMLS:C0027819 xref: UMLS:C0392752 xref: UMLS:C0700095 is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006769 name: Myxoid subcutaneous tumors namespace: medical_genetics xref: UMLS:C1834421 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0006770 name: Sporadic, nonpapillary renal cell carcinoma namespace: medical_genetics xref: UMLS:C0007134 xref: UMLS:C0205422 is_a: HP:0005584 ! Renal cell carcinoma [Term] id: HP:0006771 name: Duodenal carcinoma namespace: medical_genetics xref: UMLS:C1546189 is_a: HP:0002672 ! Gastrointestinal carcinoma [Term] id: HP:0006772 name: Multiple bilateral renal angiomyolipoma namespace: medical_genetics def: "The presence of `multiple` (PATO:0002118) and `bilateral` (PATO:0000618) `angiomyolipomas` (MPATH:416)." [HPO:probinson] comment: Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements. xref: UMLS:C1860714 is_a: HP:0001012 ! Lipomas is_a: HP:0009726 ! Renal neoplasm [Term] id: HP:0006773 name: Cutaneous angiolipomas namespace: medical_genetics xref: UMLS:C0206632 xref: UMLS:C0221912 xref: UMLS:C1522447 is_a: HP:0001012 ! Lipomas is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0006774 name: Ovarian papillary adenocarcinoma namespace: medical_genetics def: "The presence of a `papillary adenocarcinoma` (MPATH:295) of the `ovary` (FMA:7209)." [HPO:probinson] xref: UMLS:C0001420 xref: UMLS:C0205065 xref: UMLS:C0205312 xref: UMLS:C0948216 is_a: HP:0100615 ! Ovarian neoplasm [Term] id: HP:0006775 name: Increased risk for multiple myeloma namespace: medical_genetics xref: UMLS:C0026764 xref: UMLS:C0035647 xref: UMLS:C0205217 xref: UMLS:C0442805 is_a: HP:0004377 ! Hematological neoplasia [Term] id: HP:0006776 name: Multiple papillary renal cell carcinomas namespace: medical_genetics def: "The presence of `multiple` (PATO:0002118) `renal cell carcinomas` (HP:0005584) in the `renal papilla` (FMA:15622)." [HPO:probinson] xref: UMLS:C0007134 xref: UMLS:C0439064 xref: UMLS:C1306837 is_a: HP:0005584 ! Renal cell carcinoma [Term] id: HP:0006777 name: Especially prone to malignant melanoma namespace: medical_genetics def: "An excessive susceptibility to malignant melanoma." [HPO:curators] xref: UMLS:C0025202 xref: UMLS:C0033422 xref: UMLS:C0151779 xref: UMLS:C0205555 is_a: HP:0002861 ! Malignant melanoma [Term] id: HP:0006778 name: Benign genitourinary tract neoplasm namespace: medical_genetics def: "A `non-malignant` (PATO:0002096) `neoplasm` (MPATH:218) of the `genitourinary system` (FMA:280610)." [HPO:probinson] synonym: "Benign genitourinary tract tumor" EXACT [] xref: UMLS:C1834726 is_a: HP:0007379 ! Genitourinary tract neoplasm [Term] id: HP:0006779 name: Alveolar rhabdomyosarcoma namespace: medical_genetics xref: UMLS:C0206655 is_a: HP:0002859 ! Rhabdomyosarcoma [Term] id: HP:0006780 name: Parathyroid carcinoma namespace: medical_genetics xref: UMLS:C0687150 is_a: HP:0100568 ! Endocrine neoplasia [Term] id: HP:0006781 name: Hurthle cell thyroid adenoma namespace: medical_genetics def: "A kind of `thyroid adenoma` (HP:0000854) characterized by the presence of `oxyphil cells` (CL:0002200)." [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 is_a: HP:0000854 ! Thyroid adenoma [Term] id: HP:0006782 name: Malignant eosinophil proliferation namespace: medical_genetics xref: UMLS:C0014467 xref: UMLS:C0205282 xref: UMLS:C0334094 is_a: HP:0004377 ! Hematological neoplasia [Term] id: HP:0006783 name: Posterior pharyngeal cleft namespace: medical_genetics xref: UMLS:C1848389 is_a: HP:0000600 ! Abnormality of the pharynx [Term] id: HP:0006784 name: Paranasal sinus hypoplasia namespace: medical_genetics xref: UMLS:C0030471 xref: UMLS:C0243069 xref: UMLS:C0543481 is_a: HP:0005453 ! Absent/hypoplastic paranasal sinuses [Term] id: HP:0006785 name: Limb-girdle muscular dystrophy namespace: medical_genetics alt_id: HP:0009066 def: "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders)." [HPO:curators] xref: UMLS:C0686353 is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0006786 name: Amyotrophy, distal, severe namespace: medical_genetics def: "Severe muscular atrophy of distal limb muscles." [HPO:curators] xref: UMLS:C0026846 xref: UMLS:C0205082 xref: UMLS:C0205108 xref: UMLS:C1519275 is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0006788 name: Delayed early motor milestones namespace: medical_genetics xref: UMLS:C1858119 is_a: HP:0001270 ! Motor retardation [Term] id: HP:0006789 name: Mitochondrial encephalopathy namespace: medical_genetics xref: UMLS:C1852373 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006790 name: Cerebral cortex with spongiform changes namespace: medical_genetics xref: UMLS:C0007776 xref: UMLS:C0032699 xref: UMLS:C0392747 xref: UMLS:C0441126 xref: UMLS:C0443172 xref: UMLS:C1705241 xref: UMLS:C1705741 xref: UMLS:C1705921 is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0006791 name: Disproportionately small cerebral cortex namespace: medical_genetics xref: UMLS:C1855083 is_a: HP:0002472 ! Small cerebral cortex [Term] id: HP:0006794 name: Loss of ability to walk in first decade namespace: medical_genetics xref: UMLS:C0080331 xref: UMLS:C0085732 xref: UMLS:C0205435 xref: UMLS:C0600108 xref: UMLS:C1279901 xref: UMLS:C1517945 xref: UMLS:C2346415 xref: UMLS:C2368355 is_a: HP:0002505 ! Progressive inability to walk [Term] id: HP:0006795 name: Decreased spontaneous movements at birth namespace: medical_genetics xref: UMLS:C0005615 xref: UMLS:C1550722 xref: UMLS:C1839631 is_a: HP:0002603 ! Decreased spontaneous movements [Term] id: HP:0006796 name: Dilatation of lateral cerebral ventricles namespace: medical_genetics xref: UMLS:C0012356 xref: UMLS:C0012359 xref: UMLS:C0152279 is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0006797 name: Psychomotor regression, progressive namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C1855019 is_a: HP:0002489 ! Psychomotor regression [Term] id: HP:0006798 name: Lack of language development namespace: medical_genetics xref: UMLS:C0023013 xref: UMLS:C0332268 is_a: HP:0000750 ! Impaired language development [Term] id: HP:0006799 name: Basal ganglia cysts namespace: medical_genetics alt_id: HP:0007244 synonym: "Cystic lesions in the basal ganglia" EXACT [] xref: UMLS:C0004781 xref: UMLS:C1321510 xref: UMLS:C1511606 xref: UMLS:C1837251 is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0010576 ! Cystic malformations affecting the central nervous system [Term] id: HP:0006800 name: Dysplastic or absent corpus callosum namespace: medical_genetics xref: UMLS:C0175754 xref: UMLS:C0334045 is_a: HP:0001274 ! Agenesis of corpus callosum is_a: HP:0006989 ! Dysplastic corpus callosum [Term] id: HP:0006801 name: Hyperactive deep tendon reflexes namespace: medical_genetics xref: UMLS:C1834053 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0006802 name: Abnormality of the anterior horn cells namespace: medical_genetics synonym: "Anterior horn cell disease" EXACT [] xref: UMLS:C0154681 is_a: HP:0002366 ! Abnormality of the lower motor neurons [Term] id: HP:0006803 name: Vivid hallucinations namespace: medical_genetics xref: UMLS:C0018524 xref: UMLS:C1268943 is_a: HP:0000738 ! Hallucinations [Term] id: HP:0006805 name: Large corpus callosum namespace: medical_genetics def: "The presence of an abnormally large corpus callosum." [HPO:curators] xref: UMLS:C1857625 is_a: HP:0200009 ! Abnormal size of corpus callosum [Term] id: HP:0006807 name: Thick, short corpus callosum namespace: medical_genetics xref: UMLS:C1806781 xref: UMLS:C1835194 xref: UMLS:C2350002 is_a: HP:0007074 ! Thick corpus callosum is_a: HP:0200012 ! Short corpus callosum [Term] id: HP:0006808 name: Hypomyelination of the brain namespace: medical_genetics xref: UMLS:C0006104 xref: UMLS:C0544820 xref: UMLS:C1269537 is_a: HP:0003429 ! Hypomyelination [Term] id: HP:0006809 name: Posterior fossa malformations namespace: medical_genetics xref: UMLS:C1850349 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0006810 name: Late extrapyramidal signs namespace: medical_genetics xref: UMLS:C0205087 xref: UMLS:C0234133 is_a: HP:0002071 ! Extrapyramidal signs [Term] id: HP:0006811 name: Choreoathetosis of the face, trunk, extremities namespace: medical_genetics xref: UMLS:C0015385 xref: UMLS:C0015450 xref: UMLS:C0085583 xref: UMLS:C0460005 xref: UMLS:C1280632 xref: UMLS:C1281591 is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0006812 name: White mater abnormalities in the posterior periventricular region namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0007457 xref: UMLS:C0017446 xref: UMLS:C0043157 xref: UMLS:C0205095 xref: UMLS:C0205147 xref: UMLS:C0220938 xref: UMLS:C1826438 is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0006813 name: Unilateral clonic seizures namespace: medical_genetics xref: UMLS:C1846620 is_a: HP:0002266 ! Focal clonic seizures [Term] id: HP:0006815 name: Peripheral sensory neuropathy, severe namespace: medical_genetics xref: UMLS:C0151313 xref: UMLS:C0205082 xref: UMLS:C1519275 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0006816 name: Cerebral aneurysm, often multiple namespace: medical_genetics xref: UMLS:C0332183 xref: UMLS:C0439064 xref: UMLS:C0917996 is_a: HP:0004944 ! Cerebral aneurysm [Term] id: HP:0006817 name: Cerebellar vermis aplasia/hypoplasia namespace: medical_genetics alt_id: HP:0007080 def: "Absence or underdevelopment of the cerebellar vermis." [HPO:curators] synonym: "Cerebellar vermis aplasia/ hypoplasia" EXACT [] xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1861732 is_a: HP:0001320 ! Cerebellar vermis hypoplasia [Term] id: HP:0006818 name: Type I lissencephaly namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Lissencephaly, type I" EXACT [] xref: UMLS:C0266463 xref: UMLS:C0441729 is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0006821 name: Polymicrogyria, anterior to posterior gradient namespace: medical_genetics xref: UMLS:C0205094 xref: UMLS:C0205095 xref: UMLS:C0266464 xref: UMLS:C0439182 xref: UMLS:C0812409 is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0006822 name: Mental deterioration in a subset of patients namespace: medical_genetics xref: UMLS:C0030705 xref: UMLS:C0234985 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0006823 name: Mild cortical atrophy on ct or mri namespace: medical_genetics xref: UMLS:C0024485 xref: UMLS:C0235946 xref: UMLS:C0547040 xref: UMLS:C2183255 is_a: HP:0002120 ! Cerebral cortical atrophy [Term] id: HP:0006824 name: Cranial nerve paralysis namespace: medical_genetics alt_id: HP:0001353 synonym: "Cranial nerve palsies" EXACT [] synonym: "Cranial nerve palsy" EXACT [] synonym: "Cranial nerve paresis" EXACT [] xref: UMLS:C0010268 xref: UMLS:C0030552 xref: UMLS:C0151311 xref: UMLS:C1269897 is_a: HP:0001291 ! Abnormality of the cranial nerves [Term] id: HP:0006825 name: Pallor of dorsal columns of the spinal cord namespace: medical_genetics xref: UMLS:C0030232 xref: UMLS:C0037925 xref: UMLS:C0458459 xref: UMLS:C1278836 is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0006826 name: Motor developmental delay, severe namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1852607 is_a: HP:0001270 ! Motor retardation [Term] id: HP:0006827 name: Atrophy of the spinal cord namespace: medical_genetics xref: UMLS:C0024485 xref: UMLS:C0037925 xref: UMLS:C0333641 xref: UMLS:C1278836 xref: UMLS:C1547282 xref: UMLS:C2183255 is_a: HP:0007344 ! Atrophy/Degeneration involving the spinal cord [Term] id: HP:0006828 name: Developmental regression after age 2 years namespace: medical_genetics xref: UMLS:C1510829 xref: UMLS:C1836830 is_a: HP:0002376 ! Developmental regression [Term] id: HP:0006829 name: Severe muscular hypotonia namespace: medical_genetics 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:C0026827 xref: UMLS:C0026845 xref: UMLS:C0205082 xref: UMLS:C0442025 xref: UMLS:C1519275 xref: UMLS:C1839630 is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0006830 name: Severe neonatal hypotonia in males namespace: medical_genetics comment: This term needs to be made obsolete or revised. xref: UMLS:C0021289 xref: UMLS:C0024554 xref: UMLS:C0086582 xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1552240 xref: UMLS:C1552264 xref: UMLS:C1839630 xref: UMLS:C2267233 is_a: HP:0001319 ! Neonatal hypotonia [Term] id: HP:0006832 name: Type I hereditary motor and sensory neuropathy namespace: medical_genetics xref: UMLS:C0027888 xref: UMLS:C0441729 is_a: HP:0000763 ! Sensory neuropathy is_a: HP:0003134 ! Abnormal motor and sensory nerve conduction [Term] id: HP:0006833 name: Mental retardation by age 30 years namespace: medical_genetics xref: UMLS:C0025362 xref: UMLS:C1510829 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0006834 name: Developmental stagnation at onset of seizures namespace: medical_genetics xref: UMLS:C0036572 xref: UMLS:C0332162 xref: UMLS:C0458003 xref: UMLS:C0678723 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0006836 name: Decreased vibration sense, suggesting posterior column involvement namespace: medical_genetics xref: UMLS:C0458459 xref: UMLS:C1314939 xref: UMLS:C1705535 xref: UMLS:C1838397 is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0006837 name: Congenital Horner syndrome namespace: medical_genetics xref: UMLS:C1840475 is_a: HP:0002277 ! Horner syndrome [Term] id: HP:0006838 name: Leukoencephalopathy on CT and MRI namespace: medical_genetics xref: UMLS:C0024485 xref: UMLS:C0270612 xref: UMLS:C2183255 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006840 name: Markedly decreased fetal movement namespace: medical_genetics xref: UMLS:C0015946 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0522501 xref: UMLS:C2207238 is_a: HP:0001558 ! Decreased fetal movement [Term] id: HP:0006842 name: Nerve biopsy shows axonal neuropathy namespace: medical_genetics xref: UMLS:C0005558 xref: UMLS:C0027740 xref: UMLS:C0220797 xref: UMLS:C0270921 xref: UMLS:C1280541 xref: UMLS:C1547282 is_a: HP:0003477 ! Axonal neuropathy [Term] id: HP:0006843 name: Distal sensation loss namespace: medical_genetics xref: UMLS:C1832335 is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006844 name: Absent patellar reflexes namespace: medical_genetics xref: UMLS:C1832124 is_a: HP:0002522 ! Areflexia in lower limbs [Term] id: HP:0006845 name: Marked distal sensory impairment namespace: medical_genetics xref: UMLS:C1833220 is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006846 name: Acute encephalopathy namespace: medical_genetics xref: UMLS:C1306587 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006847 name: Breathing difficulty due to vocal cord paralysis namespace: medical_genetics xref: UMLS:C0013404 xref: UMLS:C0042928 is_a: HP:0001605 ! Vocal cord paralysis [Term] id: HP:0006848 name: Intracranial calcification by X-ray or CT namespace: medical_genetics xref: UMLS:C0034571 xref: UMLS:C0043299 xref: UMLS:C0043309 xref: UMLS:C0240041 xref: UMLS:C1306645 xref: UMLS:C1962945 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0006849 name: Hypodysplasia of the corpus callosum namespace: medical_genetics xref: UMLS:C0010090 is_a: HP:0002079 ! Hypoplasia of the corpus callosum [Term] id: HP:0006850 name: Hypoplasia of the ventral pons namespace: medical_genetics xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1284067 is_a: HP:0007361 ! Abnormality of the pons is_a: HP:0007362 ! Aplasia/Hypoplasia of the brainstem [Term] id: HP:0006851 name: Spinal nerve root neurofibromas, symmetric, multiple namespace: medical_genetics xref: UMLS:C0027830 xref: UMLS:C0037940 xref: UMLS:C0332516 xref: UMLS:C0439064 xref: UMLS:C1278839 is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0006852 name: Episodic generalized hypotonia namespace: medical_genetics def: "The occurrence of repeated episodes of generalized muscular hypotonia." [HPO:curators] xref: UMLS:C1455761 xref: UMLS:C1858120 is_a: HP:0001290 ! Generalized hypotonia [Term] id: HP:0006854 name: Mental deterioration in childhood namespace: medical_genetics xref: UMLS:C0231335 xref: UMLS:C0234985 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0006855 name: Cerebellar vermis atrophy namespace: medical_genetics xref: UMLS:C0742028 is_a: HP:0002951 ! Partial or complete absence of cerebellar vermis [Term] id: HP:0006856 name: Progressive mental and motor deterioration namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0229992 xref: UMLS:C1866284 is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0006858 name: Distal sensory loss of proprioception and vibration sense namespace: medical_genetics alt_id: HP:0007056 alt_id: HP:0007148 synonym: "Distal sensory impairment to vibration and proprioception" EXACT [] synonym: "Distal sensory loss of vibration and proprioception" EXACT [] xref: UMLS:C0033499 xref: UMLS:C0234198 xref: UMLS:C0455941 xref: UMLS:C0459800 xref: UMLS:C1832335 xref: UMLS:C1836340 xref: UMLS:C1883532 is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006859 name: Posterior leukoencephalopathy namespace: medical_genetics xref: UMLS:C1843513 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006860 name: Oculomotor abnormalities namespace: medical_genetics xref: UMLS:C1859619 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0006861 name: Hyporeflexia/areflexia in lower limbs namespace: medical_genetics xref: UMLS:C0023216 xref: UMLS:C0151888 xref: UMLS:C0234146 is_a: HP:0002600 ! Hyporeflexia of lower limbs [Term] id: HP:0006862 name: Intermittent cerebellar ataxia namespace: medical_genetics xref: UMLS:C1856190 is_a: HP:0001251 ! Ataxia [Term] id: HP:0006863 name: Severe expressive language delay namespace: medical_genetics xref: UMLS:C1851085 is_a: HP:0002474 ! Expressive language delay [Term] id: HP:0006864 name: Distal muscle atrophy due to peripheral neuropathy namespace: medical_genetics xref: UMLS:C0031117 xref: UMLS:C1853928 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006865 name: Sensorimotor polyneuropathy affecting arms more than legs namespace: medical_genetics xref: UMLS:C0271682 xref: UMLS:C0392760 xref: UMLS:C0446516 xref: UMLS:C1140621 xref: UMLS:C1314939 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006866 name: Midline central nervous system lipomas namespace: medical_genetics xref: UMLS:C0549183 xref: UMLS:C1332885 xref: UMLS:C1660780 is_a: HP:0100251 ! Lipomas of the central neryous system [Term] id: HP:0006867 name: Delayed cognitive development namespace: medical_genetics xref: UMLS:C1856191 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0006869 name: Myoclonic epilepsy, progressive namespace: medical_genetics alt_id: HP:0007075 def: "Progressively worsening myoclonic epilepsy." [HPO:curators] synonym: "Progressive myoclonus seizures" EXACT [] xref: UMLS:C0014550 xref: UMLS:C0205329 is_a: HP:0002123 ! Myoclonic seizures [Term] id: HP:0006870 name: Lobar holoprosencephaly namespace: medical_genetics 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 is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0006871 name: Reading disability namespace: medical_genetics def: "A type of `learning disability` (HP:0001328) characterized primarily by an impairment of the ability to read." [HPO:probinson] xref: UMLS:C0871215 is_a: HP:0001328 ! Learning disability [Term] id: HP:0006872 name: Cerebral hypoplasia namespace: medical_genetics def: "Underdevelopment of the cerebrum." [HPO:curators] xref: UMLS:C1855330 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0006873 name: Symmetrical progressive demyelination namespace: medical_genetics xref: UMLS:C1856411 is_a: HP:0003381 ! Demyelination [Term] id: HP:0006874 name: Neuroaxonal degeneration in the brain namespace: medical_genetics xref: UMLS:C0006104 xref: UMLS:C0011164 xref: UMLS:C1269537 xref: UMLS:C1880269 is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0006875 name: Slowly progressive spastic paraplegia namespace: medical_genetics xref: UMLS:C1845244 is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0006876 name: Nerve biopsy of affected region may show axonal degeneration namespace: medical_genetics xref: UMLS:C0005558 xref: UMLS:C0017446 xref: UMLS:C0027740 xref: UMLS:C0205147 xref: UMLS:C0220797 xref: UMLS:C0392760 xref: UMLS:C1280541 xref: UMLS:C1314939 xref: UMLS:C1547282 xref: UMLS:C1837496 is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0006877 name: Mental retardation, in some namespace: medical_genetics is_obsolete: true [Term] id: HP:0006879 name: Pontocerebellar atrophy namespace: medical_genetics xref: UMLS:C1853766 is_a: HP:0002364 ! Cerebellar atrophy, progressive [Term] id: HP:0006880 name: Cerebellar hemangioblastoma namespace: medical_genetics alt_id: HP:0006761 def: "A 'hemangioblastoma` (HP:0010797) of the `cerebellum` (FMA:67944)." [HPO:probinson] synonym: "Hemangioblastoma, sporadic cerebellar" EXACT [] xref: UMLS:C0007765 xref: UMLS:C0205422 xref: UMLS:C0206734 xref: UMLS:C1332900 is_a: HP:0001317 ! Abnormality of the cerebellum is_a: HP:0010797 ! Hemangioblastoma [Term] id: HP:0006881 name: Diffuse demyelination namespace: medical_genetics xref: UMLS:C0011304 xref: UMLS:C0205219 is_a: HP:0003381 ! Demyelination [Term] id: HP:0006882 name: Severe hydrocephalus namespace: medical_genetics xref: UMLS:C0020255 xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1963137 is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0006883 name: Sensory axonal neuropathy, mild namespace: medical_genetics xref: UMLS:C0547040 xref: UMLS:C1842587 is_a: HP:0003390 ! Sensory axonal neuropathy [Term] id: HP:0006885 name: Major developmental milestones are not attained namespace: medical_genetics xref: UMLS:C0205164 xref: UMLS:C0458003 xref: UMLS:C0678723 xref: UMLS:C1518422 xref: UMLS:C2347129 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0006886 name: Decreased distal vibration sense namespace: medical_genetics def: "A decrease in the ability to perceive vibration in the distal portions of the limbs." [HPO:curators] xref: UMLS:C1853767 is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0006887 name: Mental retardation, progressive namespace: medical_genetics alt_id: HP:0001261 alt_id: HP:0006924 alt_id: HP:0007025 alt_id: HP:0007044 alt_id: HP:0007243 def: "Mental retardation is defined as a decreased intelligence quotient of varying degree. The term progressive mental retardation should be used if intelligence decreases/deteriorates over time." [HPO:curators] synonym: "Progressive mental retardation" EXACT [] xref: UMLS:C0025362 xref: UMLS:C0036857 xref: UMLS:C0205082 xref: UMLS:C0205329 xref: UMLS:C0424605 xref: UMLS:C0439808 xref: UMLS:C0547040 xref: UMLS:C1519275 xref: UMLS:C1837619 xref: UMLS:C1846149 xref: UMLS:C1853567 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0006888 name: Meningoencephalocele namespace: medical_genetics xref: UMLS:C0266456 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0006889 name: Mental retardation, borderline namespace: medical_genetics def: "Borderline intellectual retardation is defined as an intelligence quotient (IQ) in the range of 70-79." [HPO:curators] xref: UMLS:C0025362 xref: UMLS:C0205189 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0006891 name: Thick cerebral cortex namespace: medical_genetics xref: UMLS:C0007776 xref: UMLS:C1280412 is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0006892 name: Cerebral atrophy, frontotemporal, progressive namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0235946 is_a: HP:0002422 ! Cerebral atrophy, progressive [Term] id: HP:0006893 name: Severely dysplastic cerebellum namespace: medical_genetics xref: UMLS:C0007765 xref: UMLS:C0334048 xref: UMLS:C1268981 is_a: HP:0007033 ! Cerebellar dysplasia [Term] id: HP:0006894 name: Hypoplastic olfactory lobes namespace: medical_genetics xref: UMLS:C1859231 is_a: HP:0001341 ! Olfactory lobe agenesis [Term] id: HP:0006895 name: Lower limb hypertonia namespace: medical_genetics xref: UMLS:C1845245 is_a: HP:0002509 ! Limb hypertonia [Term] id: HP:0006896 name: Hypnopompic hallucinations namespace: medical_genetics xref: UMLS:C0424082 is_a: HP:0000738 ! Hallucinations [Term] id: HP:0006897 name: Cranial nerve VI palsy namespace: medical_genetics xref: UMLS:C0000741 xref: UMLS:C0151311 xref: UMLS:C0445379 xref: UMLS:C0522224 xref: UMLS:C1706398 is_a: HP:0006824 ! Cranial nerve paralysis [Term] id: HP:0006898 name: Irregular myelin foldings namespace: medical_genetics xref: UMLS:C1843168 is_a: HP:0004336 ! Myelin outfoldings [Term] id: HP:0006899 name: Fusion of the cerebellar hemispheres namespace: medical_genetics xref: UMLS:C0228465 xref: UMLS:C0332466 xref: UMLS:C1293131 is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0006901 name: Impaired thermal sensitivity namespace: medical_genetics xref: UMLS:C0036667 xref: UMLS:C0221099 xref: UMLS:C0312418 xref: UMLS:C0427965 xref: UMLS:C0684336 xref: UMLS:C1522640 xref: UMLS:C2346484 xref: UMLS:C2349185 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0006903 name: Congenital peripheral neuropathy namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0031117 xref: UMLS:C0205100 xref: UMLS:C0920187 xref: UMLS:C1744681 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006904 name: Late-onset spinocerebellar degeneration namespace: medical_genetics xref: UMLS:C1856604 is_a: HP:0002503 ! Spinocerebellar tract degeneration [Term] id: HP:0006905 name: Gross motor delay, mild namespace: medical_genetics xref: UMLS:C0547040 xref: UMLS:C1855566 is_a: HP:0002194 ! Delayed gross motor development [Term] id: HP:0006906 name: Congenital intracerebral calcification namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0009678 xref: UMLS:C0175895 xref: UMLS:C0442111 xref: UMLS:C1533591 xref: UMLS:C1744681 xref: UMLS:C1879982 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0006907 name: Severely decreased motor nerve conduction velocity namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0457379 xref: UMLS:C1513492 xref: UMLS:C1705994 xref: UMLS:C1857705 is_a: HP:0003431 ! Decreased motor nerve conduction velocity (NCV) [Term] id: HP:0006908 name: Mild and nonprogressive mental retardation namespace: medical_genetics xref: UMLS:C0025362 xref: UMLS:C0547040 xref: UMLS:C1864820 is_a: HP:0001256 ! Mental retardation, mild [Term] id: HP:0006909 name: Mild motor development delay namespace: medical_genetics alt_id: HP:0007219 synonym: "Motor retardation, mild" EXACT [] xref: UMLS:C0424230 xref: UMLS:C0547040 xref: UMLS:C1844429 is_a: HP:0001270 ! Motor retardation [Term] id: HP:0006911 name: Frontal release reflexes namespace: medical_genetics xref: UMLS:C1833297 is_a: HP:0000743 ! Frontal release signs [Term] id: HP:0006912 name: Early involvement of the corticospinal pathways namespace: medical_genetics xref: UMLS:C1279919 xref: UMLS:C1314939 xref: UMLS:C1704259 xref: UMLS:C1705987 is_a: HP:0002492 ! Abnormality of the corticospinal tract [Term] id: HP:0006913 name: Frontal cortical atrophy namespace: medical_genetics xref: UMLS:C0205123 xref: UMLS:C0235946 is_a: HP:0002120 ! Cerebral cortical atrophy [Term] id: HP:0006914 name: Absence of sensory nerve conduction velocities namespace: medical_genetics xref: UMLS:C0457378 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0003448 ! Decreased sensory nerve conduction velocities (NCV) [Term] id: HP:0006915 name: Inability to walk by childhood/adolescence namespace: medical_genetics xref: UMLS:C0001578 xref: UMLS:C0080331 xref: UMLS:C0231335 xref: UMLS:C0600108 xref: UMLS:C2346415 xref: UMLS:C2368355 is_a: HP:0002505 ! Progressive inability to walk [Term] id: HP:0006916 name: Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material namespace: medical_genetics def: "`Curvilinear intracellular accumulation of autofluorescent lipopigment storage material` (HP:0003205) within `axons` (GO:0030424)." [HPO:probinson] synonym: "Intraaxonal accumulation of curvilinear profiles" RELATED [] xref: UMLS:C1706693 xref: UMLS:C1979963 is_a: HP:0003205 ! Curvilinear intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0006917 name: Interictal vestibular dysfunction namespace: medical_genetics xref: UMLS:C1862447 is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0006918 name: Cerebral sclerosis, diffuse namespace: medical_genetics xref: UMLS:C0041341 xref: UMLS:C0205219 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0006919 name: Abnormal aggressive, impulsive or violent behavior namespace: medical_genetics xref: UMLS:C0001807 xref: UMLS:C0205161 xref: UMLS:C0424323 xref: UMLS:C0443235 xref: UMLS:C0564567 xref: UMLS:C0580822 xref: UMLS:C2347472 is_a: HP:0000718 ! Aggressive behavior [Term] id: HP:0006920 name: Neurogenic scapuloperoneal amyotrophy namespace: medical_genetics xref: UMLS:C1867005 is_a: HP:0003697 ! Scapuloperoneal atrophy [Term] id: HP:0006921 name: Axial muscle stiffness, symmetric namespace: medical_genetics xref: UMLS:C0205131 xref: UMLS:C0221170 xref: UMLS:C0332516 is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0006922 name: Severe distal sensory impairment namespace: medical_genetics xref: UMLS:C1858281 is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006923 name: Abnormal brainstem auditory evoked potentials, suggesting demyelination namespace: medical_genetics xref: UMLS:C0006121 xref: UMLS:C0011304 xref: UMLS:C0079319 xref: UMLS:C0205161 xref: UMLS:C0522216 xref: UMLS:C1306665 xref: UMLS:C1705535 xref: UMLS:C2347472 is_a: HP:0003151 ! Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination [Term] id: HP:0006925 name: Postural tremor, slow, irregular namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C0234378 xref: UMLS:C0439834 is_a: HP:0002174 ! Postural tremor [Term] id: HP:0006926 name: Metachromatic leukodystrophy variant namespace: medical_genetics alt_id: HP:0007079 synonym: "Metachromatic leukodystrophy variant" EXACT [] xref: UMLS:C0023522 xref: UMLS:C0205419 is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0006927 name: Unilateral polymicrogyria, most often right-sided namespace: medical_genetics xref: UMLS:C0332183 xref: UMLS:C0444532 xref: UMLS:C1864892 is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0006929 name: Encephalopathy, hypoglycemic namespace: medical_genetics xref: UMLS:C0020616 xref: UMLS:C0085584 xref: UMLS:C1963101 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006930 name: Frontoparietal cortical dysplasia namespace: medical_genetics def: "The presence of `developmental dysplasia` (MPATH:64) of the `cortex of frontal lobe` (FMA:242199) and the `cortex of parietal lobe` (FMA:242203)." [HPO:probinson] xref: UMLS:C1864894 is_a: HP:0002539 ! Cortical dysplasia [Term] id: HP:0006931 name: Lipoma of corpus callosum namespace: medical_genetics xref: UMLS:C0010090 xref: UMLS:C0023798 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 namespace: medical_genetics xref: UMLS:C0040704 xref: UMLS:C0205374 xref: UMLS:C0338614 is_a: HP:0000725 ! Psychotic episodes [Term] id: HP:0006933 name: Associated syringomyelia namespace: medical_genetics xref: UMLS:C0039144 xref: UMLS:C0332281 is_a: HP:0003396 ! Syringomyelia [Term] id: HP:0006934 name: Congenital nystagmus namespace: medical_genetics def: "Nystagmus dating from or present at birth." [HPO:curators] xref: UMLS:C0700501 is_a: HP:0000639 ! Nystagmus [Term] id: HP:0006936 name: Speech difficulties namespace: medical_genetics xref: UMLS:C0233715 is_a: HP:0002399 ! Speech and language difficulties [Term] id: HP:0006937 name: Distal sensory loss of tactile and vibratory senses namespace: medical_genetics xref: UMLS:C0234198 xref: UMLS:C0439815 xref: UMLS:C1424619 xref: UMLS:C1832335 is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006938 name: Decreased vibration sense at ankles namespace: medical_genetics xref: UMLS:C0003086 xref: UMLS:C1838397 is_a: HP:0002166 ! Decreased vibratory sense in the lower limbs [Term] id: HP:0006939 name: Neuropathologic examination shows severe demyelination namespace: medical_genetics xref: UMLS:C0011304 xref: UMLS:C0205082 xref: UMLS:C0332128 xref: UMLS:C0876934 xref: UMLS:C1519275 xref: UMLS:C1540677 xref: UMLS:C1547282 xref: UMLS:C1555824 xref: UMLS:C2004054 is_a: HP:0003381 ! Demyelination [Term] id: HP:0006940 name: Distal muscle weakness and atrophy namespace: medical_genetics xref: UMLS:C0333641 xref: UMLS:C0427065 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0006941 name: Polyneuropathy, all limbs namespace: medical_genetics xref: UMLS:C0015385 xref: UMLS:C0152025 is_a: HP:0001271 ! Polyneuropathy [Term] id: HP:0006942 name: Bladder and bowel incontinence namespace: medical_genetics def: "The presence of `Urinary incontinence` (HP:0000020) and `Bowel incontinence` (HP:0002607)." [HPO:sdoelken] synonym: "Urinary and bowel incontinence" EXACT [] synonym: "Urinary and fecal incontinence" EXACT [] xref: UMLS:C0005682 xref: UMLS:C0015732 xref: UMLS:C1281573 is_a: HP:0000020 ! Urinary incontinence is_a: HP:0002607 ! Bowel incontinence [Term] id: HP:0006943 name: Diffuse spongiform leukoencephalopathy namespace: medical_genetics xref: UMLS:C1858857 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006944 name: Vibration sense abolished namespace: medical_genetics def: "A complete loss of the ability to perceive vibration." [HPO:curators] xref: UMLS:C0234198 is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0006945 name: Lateral ventricle dilatation namespace: medical_genetics alt_id: HP:0007173 synonym: "Enlarged lateral ventricles" EXACT [] xref: UMLS:C1848503 xref: UMLS:C1969695 is_a: HP:0002119 ! Ventriculomegaly [Term] id: HP:0006946 name: Recurrent meningitis namespace: medical_genetics xref: UMLS:C0746495 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0006947 name: Recurrent cerebellar and extrapyramidal encephalopathy namespace: medical_genetics xref: UMLS:C0007765 xref: UMLS:C0034897 xref: UMLS:C0085584 xref: UMLS:C1963101 is_a: HP:0007335 ! Encephalopathy, recurrent [Term] id: HP:0006948 name: Infantile encephalopathy, progressive namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C1856408 is_a: HP:0002448 ! Encephalopathy, progressive is_a: HP:0007105 ! Infantile encephalopathy [Term] id: HP:0006949 name: Episodic peripheral neuropathy namespace: medical_genetics xref: UMLS:C1848695 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006950 name: Motor developmental milestones not achieved namespace: medical_genetics xref: UMLS:C0870919 xref: UMLS:C1518422 xref: UMLS:C2347129 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0006951 name: Retrocerebellar cyst namespace: medical_genetics xref: UMLS:C1845370 is_a: HP:0002350 ! Cerebellar cysts [Term] id: HP:0006953 name: Gait abnormalities may occur namespace: medical_genetics xref: UMLS:C0575081 xref: UMLS:C1709305 is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0006955 name: Olivopontocerebellar hypoplasia namespace: medical_genetics xref: UMLS:C1859341 is_a: HP:0002542 ! Olivopontocerebellar atrophy [Term] id: HP:0006956 name: Dilation of lateral ventricles namespace: medical_genetics xref: UMLS:C0012359 xref: UMLS:C0152279 xref: UMLS:C0392800 xref: UMLS:C0393293 is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0006957 name: Loss of ability to walk namespace: medical_genetics xref: UMLS:C0080331 xref: UMLS:C0085732 xref: UMLS:C0600108 xref: UMLS:C1517945 xref: UMLS:C2346415 xref: UMLS:C2368355 is_a: HP:0002505 ! Progressive inability to walk [Term] id: HP:0006958 name: Abnormal auditory evoked potentials namespace: medical_genetics 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:curators] synonym: "Abnormal brainstem auditory-evoked potentials" EXACT [] xref: UMLS:C0006121 xref: UMLS:C0079319 xref: UMLS:C0205161 xref: UMLS:C0522216 xref: UMLS:C1306665 xref: UMLS:C2347472 is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0006959 name: Proximal spinal muscular atrophy namespace: medical_genetics 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] xref: UMLS:C0026847 xref: UMLS:C0205107 is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0006960 name: Choroid plexus calcification namespace: medical_genetics def: "The presence of `calcium deposition` (MPATH:36) in the `choroid plexus` (FMA:61934)." [HPO:probinson] synonym: "Calcified choroid plexus" EXACT [] xref: UMLS:C0006660 xref: UMLS:C0008524 xref: UMLS:C0175895 xref: UMLS:C1280704 xref: UMLS:C1533591 xref: UMLS:C1863184 xref: UMLS:C1879982 xref: UMLS:C2326827 is_a: HP:0002514 ! Cerebral calcification is_a: HP:0007376 ! Abnormality of the choroid plexus [Term] id: HP:0006961 name: Jerky head movements namespace: medical_genetics synonym: "Jerking head movements" EXACT [] xref: UMLS:C0376591 xref: UMLS:C1704276 xref: UMLS:C1855568 is_a: HP:0002457 ! Abnormal head movements [Term] id: HP:0006962 name: Gait instability, worse in the dark namespace: medical_genetics xref: UMLS:C0231686 xref: UMLS:C0332582 xref: UMLS:C1279889 xref: UMLS:C1457868 xref: UMLS:C1550463 is_a: HP:0002317 ! Unsteady gait [Term] id: HP:0006963 name: Superimposed episodic, painful, severe myoclonic spasms namespace: medical_genetics xref: UMLS:C0030193 xref: UMLS:C0037763 xref: UMLS:C0205082 xref: UMLS:C1455761 xref: UMLS:C1519275 is_a: HP:0003739 ! Myoclonic spasms [Term] id: HP:0006964 name: Cerebral cortical neurodegeneration namespace: medical_genetics xref: UMLS:C1859863 is_a: HP:0002180 ! Neurodegeneration [Term] id: HP:0006965 name: Acute necrotizing encephalopathy namespace: medical_genetics xref: UMLS:C1855020 is_a: HP:0006846 ! Acute encephalopathy [Term] id: HP:0006968 name: No development of motor milestones namespace: medical_genetics xref: UMLS:C0020119 xref: UMLS:C0243107 xref: UMLS:C0678723 xref: UMLS:C1513492 xref: UMLS:C1527148 xref: UMLS:C1705994 xref: UMLS:C2347129 is_a: HP:0001270 ! Motor retardation [Term] id: HP:0006969 name: Absence of the septum pellucidum with fusion of thalami namespace: medical_genetics comment: TODO: Bundled term. Revise annotations and split this term. xref: UMLS:C0036700 xref: UMLS:C0039729 xref: UMLS:C0332466 xref: UMLS:C1269896 xref: UMLS:C1293131 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0001331 ! Absent septum pellucidum [Term] id: HP:0006970 name: Periventricular leukomalacia namespace: medical_genetics xref: UMLS:C0023529 is_a: HP:0002518 ! Abnormality of the periventricular white matter [Term] id: HP:0006971 name: Mild distal sensory deficits namespace: medical_genetics xref: UMLS:C1847390 is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006972 name: Neuropsychologic cognitive abnormalities namespace: medical_genetics xref: UMLS:C1867987 is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0006974 name: Mri shows delayed myelination namespace: medical_genetics xref: UMLS:C0024485 xref: UMLS:C1277241 xref: UMLS:C1547282 xref: UMLS:C2183255 is_a: HP:0002188 ! Delayed myelination [Term] id: HP:0006975 name: Lower limb atrophy namespace: medical_genetics xref: UMLS:C1866863 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0006976 name: Focal necrotizing encephalopathy namespace: medical_genetics xref: UMLS:C0085584 xref: UMLS:C0333504 xref: UMLS:C1963101 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006977 name: Grammar-specific speech disorder namespace: medical_genetics xref: UMLS:C0037822 xref: UMLS:C0205369 xref: UMLS:C0870615 xref: UMLS:C1552740 is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0006978 name: Dysmyelinating leukodystrophy namespace: medical_genetics xref: UMLS:C1836728 is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0006979 name: Sleep-wake cycle disturbance namespace: medical_genetics xref: UMLS:C1833362 is_a: HP:0002360 ! Sleep disturbances [Term] id: HP:0006980 name: Leukoencephalopathy, progressive namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0270612 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006981 name: Decreased distal touch sense namespace: medical_genetics xref: UMLS:C0205108 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0702221 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0006983 name: Slowly progressive spastic quadriparesis namespace: medical_genetics xref: UMLS:C0877576 xref: UMLS:C1864719 is_a: HP:0002478 ! Progressive spastic quadriplegia [Term] id: HP:0006984 name: Distal sensory loss of all modalities namespace: medical_genetics xref: UMLS:C0695347 xref: UMLS:C1547664 xref: UMLS:C1832335 is_a: HP:0003409 ! Distal sensory impairment of all modalities [Term] id: HP:0006986 name: Upper limb spasticity namespace: medical_genetics xref: UMLS:C1273957 is_a: HP:0001257 ! Spasticity [Term] id: HP:0006987 name: Sensory type hand incoordination namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0332307 xref: UMLS:C0445254 xref: UMLS:C0520966 xref: UMLS:C1281583 xref: UMLS:C1547052 xref: UMLS:C1552651 xref: UMLS:C1552914 xref: UMLS:C1849011 is_a: HP:0001333 ! Abnormality of the sensory nervous system is_a: HP:0002311 ! Incoordination [Term] id: HP:0006988 name: Alobar holoprosencephaly namespace: medical_genetics 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 is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0006989 name: Dysplastic corpus callosum namespace: medical_genetics xref: UMLS:C1854884 is_a: HP:0001273 ! Abnormality of the corpus callosum [Term] id: HP:0006990 name: Dysmyelination with excess myelin-dependent gliosis namespace: medical_genetics xref: UMLS:C0017639 xref: UMLS:C0026969 xref: UMLS:C0026973 xref: UMLS:C0851827 xref: UMLS:C1701901 xref: UMLS:C1857639 xref: UMLS:C1979886 is_a: HP:0003469 ! Dysmyelination [Term] id: HP:0006991 name: Brainstem hypoplasia/dysplasia namespace: medical_genetics xref: UMLS:C0334044 xref: UMLS:C1847358 is_a: HP:0002365 ! Hypoplasia of the brainstem [Term] id: HP:0006992 name: Anterior basal encephalocele namespace: medical_genetics xref: UMLS:C1850961 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0006993 name: Distal sensory impairment of the lower extremities namespace: medical_genetics alt_id: HP:0007296 def: "Impairment of sensation affecting primarily the distal regions of the legs." [HPO:curators] synonym: "Distal sensory impairment in lower limbs" EXACT [] xref: UMLS:C0023216 xref: UMLS:C1836340 is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006994 name: Leukoencephalopathy, diffuse namespace: medical_genetics xref: UMLS:C0205219 xref: UMLS:C0270612 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006996 name: Dysgenesis of corpus callosum namespace: medical_genetics def: "Defective or abnormal development of the corpus callosum." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0010090 is_a: HP:0001273 ! Abnormality of the corpus callosum [Term] id: HP:0006997 name: Seizures usually last 1 to 5 minutes namespace: medical_genetics xref: UMLS:C0036572 xref: UMLS:C0335882 xref: UMLS:C0439232 is_a: HP:0002125 ! Seizures usually last less than 15 minutes [Term] id: HP:0006998 name: Cognitive deficits may occur namespace: medical_genetics xref: UMLS:C0679466 xref: UMLS:C1709305 is_a: HP:0002337 ! Cognitive deficits [Term] id: HP:0006999 name: Basal ganglia gliosis namespace: medical_genetics def: "The presence of `gliosis` (MPATH:182) in the `basal ganglia` (FMA:84013)." [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 [] xref: UMLS:C0004781 xref: UMLS:C0007634 xref: UMLS:C0017639 xref: UMLS:C1269647 xref: UMLS:C1321510 xref: UMLS:C1517945 xref: UMLS:C1704653 xref: UMLS:C1948049 is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007000 name: Morning myoclonic jerks namespace: medical_genetics xref: UMLS:C1847164 is_a: HP:0001336 ! Myoclonus [Term] id: HP:0007001 name: Loss of purkinje cells in the cerebellar vermis namespace: medical_genetics xref: UMLS:C0034143 xref: UMLS:C0228482 xref: UMLS:C1281000 xref: UMLS:C1517945 is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007002 name: Sensory and motor axonal neuropathy namespace: medical_genetics xref: UMLS:C0270921 xref: UMLS:C0445254 xref: UMLS:C1513492 xref: UMLS:C1705994 is_a: HP:0000763 ! Sensory neuropathy is_a: HP:0003477 ! Axonal neuropathy [Term] id: HP:0007004 name: Late-onset speech development namespace: medical_genetics xref: UMLS:C1861134 is_a: HP:0002117 ! Speech delay [Term] id: HP:0007005 name: Developmental delay in early childhood namespace: medical_genetics xref: UMLS:C0424605 xref: UMLS:C0599196 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0007006 name: Dorsal column and spinocerebellar tract degeneration namespace: medical_genetics xref: UMLS:C0458459 xref: UMLS:C1866751 is_a: HP:0002503 ! Spinocerebellar tract degeneration [Term] id: HP:0007007 name: Cavitation of the basal ganglia namespace: medical_genetics alt_id: HP:0007246 def: "The formation of small cavities in the tissue of the `basal ganglia` (FMA:84013)." [HPO:probinson, pmid:8516046] comment: This feature can be observed in tissue upon autopsy or in magnetic resonance tomography (MRI) images. synonym: "MRI imaging shows cavitation of the basal ganglia" EXACT [] xref: UMLS:C0004781 xref: UMLS:C0011923 xref: UMLS:C0024485 xref: UMLS:C0079595 xref: UMLS:C0440746 xref: UMLS:C0459385 xref: UMLS:C1321510 xref: UMLS:C1510420 xref: UMLS:C1547282 xref: UMLS:C2183255 is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007008 name: Morning generalized tonic-clonic seizures namespace: medical_genetics xref: UMLS:C1847165 is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0007009 name: Central nervous system degeneration namespace: medical_genetics xref: UMLS:C0011164 xref: UMLS:C0927232 xref: UMLS:C1269563 xref: UMLS:C1880269 is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0007010 name: Poor fine motor coordination namespace: medical_genetics xref: UMLS:C1867864 is_a: HP:0002275 ! Poor motor coordination [Term] id: HP:0007011 name: Fourth cranial nerve palsy namespace: medical_genetics xref: UMLS:C0152176 is_a: HP:0006824 ! Cranial nerve paralysis [Term] id: HP:0007012 name: Severe hypomyelination on nerve biopsy namespace: medical_genetics xref: UMLS:C0005558 xref: UMLS:C0027740 xref: UMLS:C0205082 xref: UMLS:C0220797 xref: UMLS:C0544820 xref: UMLS:C1280541 xref: UMLS:C1519275 is_a: HP:0007182 ! Hypomyelination on nerve biopsy [Term] id: HP:0007013 name: Occasional onion bulb formations namespace: medical_genetics xref: UMLS:C1843186 is_a: HP:0003383 ! 'Onion bulb' formations on nerve biopsy [Term] id: HP:0007014 name: Limb and truncal ataxia namespace: medical_genetics xref: UMLS:C0015385 xref: UMLS:C0427190 xref: UMLS:C1280090 is_a: HP:0002078 ! Truncal ataxia [Term] id: HP:0007015 name: Poor fine and gross motor coordination namespace: medical_genetics xref: UMLS:C0032854 xref: UMLS:C0205232 xref: UMLS:C0237543 xref: UMLS:C0439806 xref: UMLS:C0542537 xref: UMLS:C0687757 is_a: HP:0002275 ! Poor motor coordination [Term] id: HP:0007016 name: Corticospinal tract hypoplasia namespace: medical_genetics xref: UMLS:C1844007 is_a: HP:0007365 ! Aplasia/Hypoplasia involving the corticospinal tracts [Term] id: HP:0007017 name: Progressive forgetfulness namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0542476 is_a: HP:0000747 ! Forgetfulness [Term] id: HP:0007018 name: Attention deficit hyperactivity disorder namespace: medical_genetics 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:C0041671 xref: UMLS:C0231335 xref: UMLS:C0339002 xref: UMLS:C1263846 is_a: HP:0000736 ! Short attention span [Term] id: HP:0007019 name: Difficulty walking and climbing stairs namespace: medical_genetics xref: UMLS:C0311394 xref: UMLS:C1710179 xref: UMLS:C2362653 xref: UMLS:C2584300 is_a: HP:0002355 ! Difficulty walking is_a: HP:0003551 ! Difficulty climbing stairs [Term] id: HP:0007020 name: Progressive spastic paraplegia namespace: medical_genetics xref: UMLS:C1855483 is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0007021 name: Pain insensitivity, diffuse namespace: medical_genetics xref: UMLS:C0205219 xref: UMLS:C1850410 is_a: HP:0007328 ! Decreased pain sensation [Term] id: HP:0007022 name: Sural nerve biopsy shows occasional onion bulb formations namespace: medical_genetics xref: UMLS:C0740403 xref: UMLS:C1547282 xref: UMLS:C1843186 is_a: HP:0003383 ! 'Onion bulb' formations on nerve biopsy [Term] id: HP:0007023 name: Antenatal intracerebral hemorrhage namespace: medical_genetics xref: UMLS:C1837247 is_a: HP:0001342 ! Cerebral hemorrhage [Term] id: HP:0007024 name: Pseudobulbar paralysis namespace: medical_genetics 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` (HP:0002193) such as enforced crying and laughing." [HPO:sdoelken] synonym: "Pseudobulbar palsy" EXACT [] synonym: "Pseudobulbar syndrome" EXACT [] xref: UMLS:C0033790 is_a: HP:0002200 ! Pseudobulbar signs [Term] id: HP:0007026 name: Hypoplastic/atrophic corpus callosum namespace: medical_genetics xref: UMLS:C0543481 xref: UMLS:C1837332 is_a: HP:0002079 ! Hypoplasia of the corpus callosum [Term] id: HP:0007027 name: Poorly formed metencephalon namespace: medical_genetics xref: UMLS:C0205169 xref: UMLS:C0205431 xref: UMLS:C0376353 is_a: HP:0002418 ! Abnormality of the midbrain [Term] id: HP:0007028 name: Choreoathetosis, more frequent at disease onset namespace: medical_genetics xref: UMLS:C0085583 xref: UMLS:C0277793 xref: UMLS:C0332183 is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0007029 name: Cerebral berry aneurysms namespace: medical_genetics xref: UMLS:C0005135 xref: UMLS:C0005136 xref: UMLS:C0917996 xref: UMLS:C0982158 is_a: HP:0004944 ! Cerebral aneurysm [Term] id: HP:0007030 name: Nonprogressive encephalopathy namespace: medical_genetics xref: UMLS:C0085584 xref: UMLS:C1864820 xref: UMLS:C1963101 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007032 name: Decreased or absent ankle reflexes namespace: medical_genetics xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0558845 is_a: HP:0003438 ! Absent ankle reflexes [Term] id: HP:0007033 name: Cerebellar dysplasia namespace: medical_genetics def: "The presence of `developmental dysplasia` (MPATH:64) of the `cerebellum` (FMA:67944)." [HPO:probinson] xref: UMLS:C0007765 xref: UMLS:C0334044 is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0007034 name: Generalized hyperreflexia namespace: medical_genetics xref: UMLS:C0151889 xref: UMLS:C0205246 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007035 name: Anterior encephalocele namespace: medical_genetics xref: UMLS:C0014065 xref: UMLS:C0205094 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007036 name: Hypoplasia of olfactory tract namespace: medical_genetics xref: UMLS:C0162435 xref: UMLS:C0243069 xref: UMLS:C0543481 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system [Term] id: HP:0007037 name: Psychomotor regression beginning in infancy namespace: medical_genetics xref: UMLS:C0231330 xref: UMLS:C0439659 xref: UMLS:C1855019 is_a: HP:0002489 ! Psychomotor regression [Term] id: HP:0007039 name: MRI shows symmetric lesions of the basal ganglia namespace: medical_genetics xref: UMLS:C0004781 xref: UMLS:C0024485 xref: UMLS:C0221198 xref: UMLS:C0332516 xref: UMLS:C1321510 xref: UMLS:C1547282 xref: UMLS:C2183255 is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007041 name: Chronic lymphocytic meningitis namespace: medical_genetics xref: UMLS:C0393441 is_a: HP:0001287 ! Meningitis [Term] id: HP:0007042 name: Focal white matter lesions namespace: medical_genetics xref: UMLS:C0205234 xref: UMLS:C0221198 xref: UMLS:C0682708 is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007043 name: Peripheral sensory and motor neuropathy namespace: medical_genetics xref: UMLS:C0205100 xref: UMLS:C0235025 xref: UMLS:C0445254 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0007045 name: Midline brain calcifications namespace: medical_genetics xref: UMLS:C1855487 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0007047 name: Atrophy of the dentate nucleus namespace: medical_genetics xref: UMLS:C0086120 xref: UMLS:C0333641 is_a: HP:0100321 ! Abnormality of the dentate nucleus [Term] id: HP:0007048 name: Large basal ganglia namespace: medical_genetics xref: UMLS:C1859470 is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007050 name: Cerebellar ataxia, severe namespace: medical_genetics def: "A severe degree of cerebellar ataxia (that is, ataxia due to dysfunction of the cerebellum)." [HPO:curators] xref: UMLS:C0007758 xref: UMLS:C0205082 xref: UMLS:C1519275 is_a: HP:0001251 ! Ataxia [Term] id: HP:0007051 name: Posterior encephalocele namespace: medical_genetics xref: UMLS:C0014065 xref: UMLS:C0205095 is_a: HP:0002085 ! Occipital encephalocele [Term] id: HP:0007052 name: Multifocal cerebral white matter abnormalities namespace: medical_genetics xref: UMLS:C1833434 is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007053 name: Pontocerebellar hypoplasia namespace: medical_genetics def: "Combined underdevelopment of the `cerebellum` (FMA:67944) and the `pons` (FMA:67943)." [HPO:probinson] xref: UMLS:C1261175 is_a: HP:0001321 ! Cerebellar hypoplasia [Term] id: HP:0007054 name: Hyperreflexia proximally namespace: medical_genetics xref: UMLS:C1836012 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007057 name: Poor hand-eye coordination namespace: medical_genetics xref: UMLS:C1845864 is_a: HP:0002370 ! Poor coordination [Term] id: HP:0007058 name: Generalized cerebral atrophy/hypoplasia namespace: medical_genetics def: "Generalized atrophy or hypoplasia of the cerebrum." [HPO:sdoelken] xref: UMLS:C0205246 xref: UMLS:C0333641 xref: UMLS:C1855330 is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0007062 name: Spastic paraplegia, lower limb namespace: medical_genetics xref: UMLS:C0023216 xref: UMLS:C0037772 xref: UMLS:C1269079 is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0007063 name: Aplasia of the inferior half of the cerebellar vermis namespace: medical_genetics xref: UMLS:C0228482 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0542339 xref: UMLS:C0678975 xref: UMLS:C1281000 is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007064 name: Progressive language deterioration namespace: medical_genetics xref: UMLS:C1843793 is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007065 name: Disorganization of the anterior cerebellar vermis namespace: medical_genetics xref: UMLS:C0205094 xref: UMLS:C0228482 xref: UMLS:C1281000 is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007066 name: Proximal limb muscle stiffness namespace: medical_genetics xref: UMLS:C1861460 is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0007067 name: Peripheral sensory neuropathy, distal namespace: medical_genetics xref: UMLS:C0151313 xref: UMLS:C0205108 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0007068 name: Inferior vermis hypoplasia namespace: medical_genetics xref: UMLS:C1855350 is_a: HP:0001320 ! Cerebellar vermis hypoplasia [Term] id: HP:0007069 name: Profound static encephalopathy namespace: medical_genetics xref: UMLS:C0085584 xref: UMLS:C0439808 xref: UMLS:C0441463 xref: UMLS:C1963101 is_a: HP:0007030 ! Nonprogressive encephalopathy [Term] id: HP:0007071 name: Mild-moderate ventricular dilatation namespace: medical_genetics xref: UMLS:C1855842 is_a: HP:0002119 ! Ventriculomegaly [Term] id: HP:0007072 name: Cerebellar atrophy in most cases namespace: medical_genetics xref: UMLS:C0740279 xref: UMLS:C0868928 xref: UMLS:C1533148 is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0007073 name: Leukoencephalopathy, severe namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0270612 xref: UMLS:C1519275 is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0007074 name: Thick corpus callosum namespace: medical_genetics xref: UMLS:C1835194 is_a: HP:0200010 ! Abnormal thickness of corpus callosum [Term] id: HP:0007076 name: Extrapyramidal muscular rigidity namespace: medical_genetics xref: UMLS:C1852470 is_a: HP:0002071 ! Extrapyramidal signs [Term] id: HP:0007077 name: Neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels namespace: medical_genetics xref: UMLS:C0024090 xref: UMLS:C0027830 xref: UMLS:C0036037 xref: UMLS:C0205064 xref: UMLS:C0441889 xref: UMLS:C1709305 is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0007078 name: Decreased or absent sensory nerve action potentials namespace: medical_genetics xref: UMLS:C0205216 xref: UMLS:C0332197 xref: UMLS:C0392756 xref: UMLS:C0522219 is_a: HP:0003134 ! Abnormal motor and sensory nerve conduction [Term] id: HP:0007081 name: Late-onset muscular dystrophy namespace: medical_genetics xref: UMLS:C0026850 xref: UMLS:C0205087 xref: UMLS:C0332162 is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0007082 name: Enlarged lateral and third ventricles namespace: medical_genetics xref: UMLS:C0149555 xref: UMLS:C0205093 xref: UMLS:C0442800 xref: UMLS:C1293134 is_a: HP:0002119 ! Ventriculomegaly is_a: HP:0006945 ! Lateral ventricle dilatation [Term] id: HP:0007083 name: Hyperreflexia in knees namespace: medical_genetics xref: UMLS:C0022742 xref: UMLS:C0151889 is_a: HP:0002395 ! Lower limb hyperreflexia is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0007084 name: Occasional early 'onion' bulb formations namespace: medical_genetics xref: UMLS:C1842207 is_a: HP:0003383 ! 'Onion bulb' formations on nerve biopsy [Term] id: HP:0007086 name: Social and occupational deterioration namespace: medical_genetics xref: UMLS:C0521127 xref: UMLS:C0728831 xref: UMLS:C0868945 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0007087 name: Involuntary jerking movements namespace: medical_genetics xref: UMLS:C1854302 is_a: HP:0004305 ! Involuntary muscle contractions [Term] id: HP:0007088 name: Mild peripheral neuropathy may occur namespace: medical_genetics xref: UMLS:C1709305 xref: UMLS:C1969461 is_a: HP:0007235 ! Peripheral neuropathy, mild [Term] id: HP:0007089 name: Facial-lingual fasciculations namespace: medical_genetics def: "Fasciculations affecting the tongue muscle and the musculature of the face." [HPO:curators] xref: UMLS:C1862359 is_a: HP:0002380 ! Fasciculations [Term] id: HP:0007094 name: Delayed development may occur namespace: medical_genetics xref: UMLS:C0424605 xref: UMLS:C1709305 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0007095 name: Polymicrogyria, most severe in the frontoparietal regions namespace: medical_genetics xref: UMLS:C0017446 xref: UMLS:C0205082 xref: UMLS:C0205147 xref: UMLS:C0266464 xref: UMLS:C1519275 is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0007096 name: Hypoplasia of the optic tract namespace: medical_genetics xref: UMLS:C0152405 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1269601 is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract [Term] id: HP:0007097 name: Cranial nerve motor loss namespace: medical_genetics xref: UMLS:C0010268 xref: UMLS:C1269897 xref: UMLS:C1513492 xref: UMLS:C1517945 xref: UMLS:C1705994 is_a: HP:0001291 ! Abnormality of the cranial nerves [Term] id: HP:0007098 name: Choreoathetosis, paroxysmal namespace: medical_genetics xref: UMLS:C0085583 xref: UMLS:C0205311 is_a: HP:0002351 ! Choreoathetosis, episodic [Term] id: HP:0007099 name: Arnold-Chiari type I malformation namespace: medical_genetics 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:C0750929 xref: UMLS:C1857474 is_a: HP:0002308 ! Arnold-Chiari malformation [Term] id: HP:0007100 name: Progressive ventriculomegaly namespace: medical_genetics xref: UMLS:C1865119 is_a: HP:0002119 ! Ventriculomegaly [Term] id: HP:0007101 name: Difficulty walking in childhood namespace: medical_genetics xref: UMLS:C0231335 xref: UMLS:C0311394 is_a: HP:0002355 ! Difficulty walking [Term] id: HP:0007102 name: Seizures, febrile, in early childhood namespace: medical_genetics xref: UMLS:C0015967 xref: UMLS:C0036572 xref: UMLS:C0599196 is_a: HP:0002373 ! Febrile seizures [Term] id: HP:0007103 name: Hypodensity of cerebral white matter on MRI namespace: medical_genetics alt_id: HP:0006804 synonym: "White matter hypodensities on MRI" EXACT [] xref: UMLS:C0024485 xref: UMLS:C0152295 xref: UMLS:C0682708 xref: UMLS:C1284115 xref: UMLS:C2183255 is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007104 name: Prolonged somatosensory evoked potentials namespace: medical_genetics xref: UMLS:C0015216 xref: UMLS:C0439590 xref: UMLS:C1305867 is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0007105 name: Infantile encephalopathy namespace: medical_genetics alt_id: HP:0007309 alt_id: HP:0007353 synonym: "Neonatal/early-infantile onset encephalopathy" EXACT [] synonym: "Severe neonatal encephalopathy" EXACT [] xref: UMLS:C0021289 xref: UMLS:C0085584 xref: UMLS:C0205082 xref: UMLS:C0231330 xref: UMLS:C0235820 xref: UMLS:C0332162 xref: UMLS:C1279919 xref: UMLS:C1519275 xref: UMLS:C1552240 xref: UMLS:C1552264 xref: UMLS:C1833334 xref: UMLS:C1848924 xref: UMLS:C1856408 xref: UMLS:C1963101 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007106 name: Severe delay in developmental milestones namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0205421 xref: UMLS:C0458003 xref: UMLS:C0678723 xref: UMLS:C1519275 xref: UMLS:C2347129 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0007107 name: Segmental demyelination namespace: medical_genetics xref: UMLS:C0333457 is_a: HP:0003381 ! Demyelination [Term] id: HP:0007108 name: Demyelinating peripheral neuropathy namespace: medical_genetics xref: UMLS:C0011304 xref: UMLS:C0031117 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007109 name: Periventricular cysts namespace: medical_genetics xref: UMLS:C1839858 is_a: HP:0002518 ! Abnormality of the periventricular white matter is_a: HP:0010576 ! Cystic malformations affecting the central nervous system [Term] id: HP:0007110 name: Central hypoventilation namespace: medical_genetics xref: UMLS:C0205099 xref: UMLS:C0398353 xref: UMLS:C1879652 is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0007111 name: Chronic hepatic encephalopathy namespace: medical_genetics xref: UMLS:C0006109 xref: UMLS:C0019151 xref: UMLS:C0205054 xref: UMLS:C0205191 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0002480 ! Hepatic encephalopathy [Term] id: HP:0007112 name: Mri shows frontal and temporal cortical atrophy namespace: medical_genetics xref: UMLS:C0024485 xref: UMLS:C0205123 xref: UMLS:C0235946 xref: UMLS:C0442043 xref: UMLS:C1547282 xref: UMLS:C2183255 xref: UMLS:C2362314 is_a: HP:0002120 ! Cerebral cortical atrophy [Term] id: HP:0007113 name: Extrapyramidal signs may develop namespace: medical_genetics xref: UMLS:C0234133 xref: UMLS:C1999145 is_a: HP:0002071 ! Extrapyramidal signs [Term] id: HP:0007114 name: Infrequent generalized seizures namespace: medical_genetics xref: UMLS:C0234533 xref: UMLS:C0521114 is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0007115 name: Orbital encephalocele namespace: medical_genetics xref: UMLS:C0271330 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007116 name: Impaired vibratory and position senses namespace: medical_genetics xref: UMLS:C0184304 xref: UMLS:C0221099 xref: UMLS:C0234219 xref: UMLS:C0684336 xref: UMLS:C1705100 is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0007117 name: Corticospinal tract atrophy namespace: medical_genetics xref: UMLS:C1838868 is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts [Term] id: HP:0007118 name: Decreased motor and sensory nerve conduction velocities namespace: medical_genetics xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0457378 xref: UMLS:C1513492 xref: UMLS:C1705994 is_a: HP:0003134 ! Abnormal motor and sensory nerve conduction [Term] id: HP:0007119 name: Mental retardation, borderline-mild namespace: medical_genetics xref: UMLS:C0025362 xref: UMLS:C0205189 xref: UMLS:C0547040 is_a: HP:0001256 ! Mental retardation, mild [Term] id: HP:0007120 name: Involuntary movements of extremities, neck, trunk, and/or face namespace: medical_genetics xref: UMLS:C0015385 xref: UMLS:C0015450 xref: UMLS:C0027530 xref: UMLS:C0427086 xref: UMLS:C0460005 xref: UMLS:C1280632 xref: UMLS:C1281591 xref: UMLS:C1281592 is_a: HP:0004305 ! Involuntary muscle contractions [Term] id: HP:0007121 name: Atrophy of the cerebellar vermis on mri namespace: medical_genetics xref: UMLS:C0024485 xref: UMLS:C0228482 xref: UMLS:C0333641 xref: UMLS:C1281000 xref: UMLS:C2183255 is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007122 name: Dementia, rapidly progressive namespace: medical_genetics xref: UMLS:C0497327 xref: UMLS:C1843027 is_a: HP:0002274 ! Dementia, progressive [Term] id: HP:0007123 name: Subcortical dementia, progressive namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0497327 xref: UMLS:C0815275 is_a: HP:0002274 ! Dementia, progressive [Term] id: HP:0007124 name: Spastic paraplegia, severe namespace: medical_genetics xref: UMLS:C0037772 xref: UMLS:C0205082 xref: UMLS:C1519275 is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0007125 name: Agenesis or hypogenesis of the cerebellar vermis namespace: medical_genetics xref: UMLS:C0000846 xref: UMLS:C0228482 xref: UMLS:C0332907 xref: UMLS:C1281000 xref: UMLS:C2119045 is_a: HP:0002335 ! Agenesis of cerebellar vermis [Term] id: HP:0007126 name: Proximal amyotrophy namespace: medical_genetics alt_id: HP:0006792 alt_id: HP:0006966 alt_id: HP:0009041 def: "Amyotrophy (muscular atrophy) affecting the proximal musculature." [HPO:curators] synonym: "Muscle atrophy, proximal" EXACT [] synonym: "Proximal muscle atrophy" EXACT [] synonym: "Proximal muscle wasting" EXACT [] xref: UMLS:C0026846 xref: UMLS:C0205107 xref: UMLS:C1839031 xref: UMLS:C1850794 is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0007127 name: Absent or delayed speech namespace: medical_genetics xref: UMLS:C0241210 xref: UMLS:C0332197 is_a: HP:0002117 ! Speech delay [Term] id: HP:0007129 name: Cerebellar medulloblastoma namespace: medical_genetics xref: UMLS:C1862179 is_a: HP:0002885 ! Medulloblastoma [Term] id: HP:0007130 name: Lack of developmental development namespace: medical_genetics xref: UMLS:C0332268 xref: UMLS:C0458003 xref: UMLS:C0678723 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0007131 name: Acute demyelinating polyneuropathy namespace: medical_genetics xref: UMLS:C0205178 xref: UMLS:C0270922 is_a: HP:0007108 ! Demyelinating peripheral neuropathy [Term] id: HP:0007132 name: Pallidal degeneration namespace: medical_genetics xref: UMLS:C0393577 is_a: HP:0007366 ! Atrophy/Degeneration affecting the brainstem [Term] id: HP:0007133 name: Progressive peripheral neuropathy namespace: medical_genetics alt_id: HP:0007329 synonym: "Progressive polyneuropathy" EXACT [] xref: UMLS:C1855261 xref: UMLS:C1859178 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007134 name: White matter dysmyelination/demyelination namespace: medical_genetics xref: UMLS:C0011304 xref: UMLS:C0682708 xref: UMLS:C1857639 is_a: HP:0003469 ! Dysmyelination [Term] id: HP:0007138 name: Distal sensory loss, upper and lower limbs namespace: medical_genetics xref: UMLS:C0023216 xref: UMLS:C1282910 xref: UMLS:C1832335 is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0007140 name: Isolated focal dystonia may occur namespace: medical_genetics xref: UMLS:C0205409 xref: UMLS:C0743332 xref: UMLS:C1709305 is_a: HP:0004373 ! Focal dystonia [Term] id: HP:0007141 name: Sensorimotor neuropathy namespace: medical_genetics alt_id: HP:0007055 alt_id: HP:0007237 synonym: "Mixed polyneuropathy" EXACT [] synonym: "Sensorimotor peripheral neuropathy" EXACT [] xref: UMLS:C0152025 xref: UMLS:C0205430 xref: UMLS:C0442874 xref: UMLS:C1112256 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007142 name: Motor and sensory neuropathy namespace: medical_genetics xref: UMLS:C0151313 xref: UMLS:C1513492 xref: UMLS:C1705994 is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0007143 name: Absence seizures may occur namespace: medical_genetics xref: UMLS:C0014553 xref: UMLS:C1709305 is_a: HP:0002121 ! Absence seizures [Term] id: HP:0007144 name: Decreased vibration sense in feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0347981 xref: UMLS:C1838397 is_a: HP:0002166 ! Decreased vibratory sense in the lower limbs [Term] id: HP:0007145 name: Cervical cord compression myelopathy namespace: medical_genetics xref: UMLS:C1867486 is_a: HP:0002341 ! Cervical cord compression [Term] id: HP:0007146 name: Bilateral basal ganglia lesions namespace: medical_genetics xref: UMLS:C0004781 xref: UMLS:C0221198 xref: UMLS:C0238767 xref: UMLS:C1321510 is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007147 name: Urinary or fecal incontinence namespace: medical_genetics def: "The presence of either `Urinary incontinence` (HP:0000020) or `Bowel incontinence` (HP:0002607)." [HPO:sdoelken] xref: UMLS:C0015732 xref: UMLS:C0042027 xref: UMLS:C1524119 is_a: HP:0000009 ! Functional abnormality of the bladder is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0007149 name: Distal muscle atrophy, more severe in the upper limbs namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C1140618 xref: UMLS:C1519275 xref: UMLS:C1853928 is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0007150 name: Dementia, presenile, progressive, beginning around age 30 years namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0439659 xref: UMLS:C0497327 xref: UMLS:C1510829 is_a: HP:0002274 ! Dementia, progressive [Term] id: HP:0007151 name: Small but structurally normal cerebral cortex namespace: medical_genetics xref: UMLS:C0007776 xref: UMLS:C0205307 xref: UMLS:C0439166 xref: UMLS:C0678594 xref: UMLS:C0700321 xref: UMLS:C2347086 is_a: HP:0002472 ! Small cerebral cortex [Term] id: HP:0007152 name: Relapsing, early onset cerebellar ataxia namespace: medical_genetics xref: UMLS:C0035020 xref: UMLS:C0393519 is_a: HP:0001251 ! Ataxia [Term] id: HP:0007153 name: Progressive extrapyramidal movement disorder namespace: medical_genetics xref: UMLS:C1273968 xref: UMLS:C1864985 is_a: HP:0002071 ! Extrapyramidal signs is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0007154 name: Nonprogressive mental retardation namespace: medical_genetics xref: UMLS:C0025362 xref: UMLS:C1864820 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0007156 name: Limb muscle stiffness is often asymmetric namespace: medical_genetics xref: UMLS:C0015385 xref: UMLS:C0221170 xref: UMLS:C0332183 xref: UMLS:C0332514 xref: UMLS:C1280090 is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0007158 name: Progressive extrapyramidal rigidity namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0277821 is_a: HP:0002071 ! Extrapyramidal signs [Term] id: HP:0007159 name: Fluctuations in consciousness namespace: medical_genetics xref: UMLS:C0231239 xref: UMLS:C0231241 xref: UMLS:C0234421 xref: UMLS:C0517960 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0007160 name: Sural nerve biopsy shows hypomyelination/demyelination namespace: medical_genetics xref: UMLS:C0011304 xref: UMLS:C0544820 xref: UMLS:C0740403 xref: UMLS:C1547282 is_a: HP:0007182 ! Hypomyelination on nerve biopsy [Term] id: HP:0007162 name: Neuropathology shows diffuse demyelination of the cerebral white matter namespace: medical_genetics xref: UMLS:C0011304 xref: UMLS:C0152295 xref: UMLS:C0205219 xref: UMLS:C0876934 xref: UMLS:C1284115 xref: UMLS:C1540677 xref: UMLS:C1547282 xref: UMLS:C1555824 is_a: HP:0003381 ! Demyelination [Term] id: HP:0007163 name: Corticospinal tract disease in lower limbs namespace: medical_genetics xref: UMLS:C0012634 xref: UMLS:C0023216 xref: UMLS:C0936236 is_a: HP:0002492 ! Abnormality of the corticospinal tract [Term] id: HP:0007164 name: Slowed slurred speech namespace: medical_genetics xref: UMLS:C0234518 xref: UMLS:C1859270 is_a: HP:0001350 ! Slurred speech [Term] id: HP:0007165 name: Periventricular gray matter heterotopias namespace: medical_genetics alt_id: HP:0002272 def: "A form of gray matter heterotopia were the mislocalised 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. They 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. Periventricular gray matter heterotopia can be seen for example in patients with Smith-Lemli-Opitz-Syndrome." [HPO:curators] synonym: "Periventricular neuronal heterotopia" EXACT [HPO:curators] synonym: "Subependymal gray matter heterotopia" EXACT [HPO:curators] synonym: "Subependymal neuronal heterotopia" EXACT [HPO:curators] xref: UMLS:C0266491 xref: UMLS:C0521407 xref: UMLS:C1839544 xref: UMLS:C1847341 xref: UMLS:C1849173 is_a: HP:0002281 ! Gray matter heterotopias [Term] id: HP:0007166 name: Involuntary dystonic or choreiform movements namespace: medical_genetics xref: UMLS:C0008489 is_a: HP:0004305 ! Involuntary muscle contractions [Term] id: HP:0007168 name: Olivopontocerebellar hypoplasia, severe namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1859341 is_a: HP:0001321 ! Cerebellar hypoplasia [Term] id: HP:0007169 name: Axonal peripheral neuropathy namespace: medical_genetics alt_id: HP:0006814 synonym: "Peripheral axonal neuropathy" EXACT [] xref: UMLS:C0205100 xref: UMLS:C0270921 xref: UMLS:C1263857 is_a: HP:0003477 ! Axonal neuropathy is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007170 name: Severe speech and language disorder namespace: medical_genetics xref: UMLS:C0023015 xref: UMLS:C0037817 xref: UMLS:C0205082 xref: UMLS:C0846595 xref: UMLS:C1519275 is_a: HP:0002399 ! Speech and language difficulties [Term] id: HP:0007172 name: Speech and language delay, severe namespace: medical_genetics xref: UMLS:C0023012 xref: UMLS:C0037817 xref: UMLS:C0205082 xref: UMLS:C0846595 xref: UMLS:C1519275 is_a: HP:0002399 ! Speech and language difficulties [Term] id: HP:0007174 name: Mildly delayed developmental milestones namespace: medical_genetics xref: UMLS:C0205421 xref: UMLS:C0458003 xref: UMLS:C0547040 xref: UMLS:C0678723 xref: UMLS:C0750532 xref: UMLS:C2347129 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0007175 name: Simple partial occipital seizures namespace: medical_genetics def: "A partial seizure affecting an occipital lobe in which consciousness is maintained." [HPO:curators] xref: UMLS:C1850765 is_a: HP:0002349 ! Simple partial seizures [Term] id: HP:0007176 name: Mental retardation by the age of 7 years namespace: medical_genetics xref: UMLS:C0001779 xref: UMLS:C0025362 xref: UMLS:C0439234 is_a: HP:0001249 ! Mental retardation [Term] id: HP:0007178 name: Motor polyneuropathy namespace: medical_genetics xref: UMLS:C0271683 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007179 name: Poor or absent smooth pursuit namespace: medical_genetics xref: UMLS:C0032854 xref: UMLS:C0034158 xref: UMLS:C0332197 xref: UMLS:C0542537 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0007180 name: Low normal intelligence namespace: medical_genetics xref: UMLS:C1969539 is_a: HP:0001286 ! Low intelligence [Term] id: HP:0007181 name: Interosseus muscle atrophy namespace: medical_genetics 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:C0026846 xref: UMLS:C1846829 is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0007182 name: Hypomyelination on nerve biopsy namespace: medical_genetics alt_id: HP:0007226 synonym: "Nerve biopsy shows hypomyelination" EXACT [] xref: UMLS:C0005558 xref: UMLS:C0027740 xref: UMLS:C0220797 xref: UMLS:C0544820 xref: UMLS:C1280541 xref: UMLS:C1547282 is_a: HP:0003429 ! Hypomyelination [Term] id: HP:0007183 name: Hyperintense lesions in the basal ganglia on MRI namespace: medical_genetics xref: UMLS:C0004781 xref: UMLS:C0024485 xref: UMLS:C0221198 xref: UMLS:C1321510 xref: UMLS:C2183255 is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007184 name: Hyperreflexia may occur namespace: medical_genetics xref: UMLS:C0151889 xref: UMLS:C1709305 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007185 name: Loss of consciousness namespace: medical_genetics xref: UMLS:C0234421 xref: UMLS:C0517960 xref: UMLS:C1517945 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0007186 name: Type ii motor-sensory neuropathy namespace: medical_genetics xref: UMLS:C0151313 xref: UMLS:C0235025 xref: UMLS:C0441730 xref: UMLS:C0445254 xref: UMLS:C1513492 xref: UMLS:C1705994 is_a: HP:0000763 ! Sensory neuropathy is_a: HP:0003134 ! Abnormal motor and sensory nerve conduction [Term] id: HP:0007187 name: Focal lissencephaly namespace: medical_genetics xref: UMLS:C1855230 is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0007188 name: Congenital facial diplegia namespace: medical_genetics def: "Facial diplegia (that is, bilateral facial palsy) with congenital onset)." [HPO:curators] xref: UMLS:C0853240 is_a: HP:0001349 ! Facial diplegia [Term] id: HP:0007189 name: True or apparent hydrocephalus namespace: medical_genetics xref: UMLS:C0020255 xref: UMLS:C0205238 xref: UMLS:C0750489 xref: UMLS:C1963137 is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0007190 name: Neuronal loss in the cerebral cortex namespace: medical_genetics xref: UMLS:C0007776 xref: UMLS:C1850496 is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0007191 name: Tropical spastic paraparesis namespace: medical_genetics xref: UMLS:C0030481 is_a: HP:0002313 ! Spastic paraparesis [Term] id: HP:0007192 name: Deficit in expressive language namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0023008 xref: UMLS:C0162429 is_a: HP:0002474 ! Expressive language delay [Term] id: HP:0007193 name: Generalized tonic-clonic seizures on awakening namespace: medical_genetics def: "Generalized tonic-clonic seizures on awakening are a form of `Generalized tonic-clonic seizures` (HP:0002069) that occur upon awaking." [HPO:probinson] xref: UMLS:C0494475 xref: UMLS:C1720052 is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0007195 name: Proximal neurogenic muscle weakness namespace: medical_genetics xref: UMLS:C1838869 is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0007196 name: Early and severe mental retardation namespace: medical_genetics xref: UMLS:C0036857 xref: UMLS:C1279919 is_a: HP:0010864 ! Mental retardation, severe [Term] id: HP:0007197 name: Action and postural tremor namespace: medical_genetics xref: UMLS:C0234378 xref: UMLS:C0441472 is_a: HP:0002174 ! Postural tremor [Term] id: HP:0007198 name: Developmental arrest, 2nd year of life namespace: medical_genetics xref: UMLS:C0205436 xref: UMLS:C0376558 xref: UMLS:C0439234 xref: UMLS:C0439508 xref: UMLS:C1848980 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0007199 name: Progressive spastic paraparesis namespace: medical_genetics xref: UMLS:C0037771 xref: UMLS:C0205329 is_a: HP:0002313 ! Spastic paraparesis [Term] id: HP:0007200 name: Episodic hypersomnia namespace: medical_genetics xref: UMLS:C0917799 xref: UMLS:C1455761 is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0007201 name: Cerebral artery atherosclerosis namespace: medical_genetics xref: UMLS:C0003842 xref: UMLS:C0004153 xref: UMLS:C0007770 xref: UMLS:C0007775 xref: UMLS:C1278936 is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0007202 name: Myoclonic seizures, intractable namespace: medical_genetics def: "Myoclonic seizures that do not respond well to treatment." [HPO:curators] xref: UMLS:C0014550 xref: UMLS:C0205269 is_a: HP:0002123 ! Myoclonic seizures [Term] id: HP:0007203 name: Cerebellar atrophy, mild namespace: medical_genetics xref: UMLS:C0547040 xref: UMLS:C0740279 is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0007204 name: Brain imaging shows diffuse white matter abnormalities namespace: medical_genetics xref: UMLS:C0006104 xref: UMLS:C0011923 xref: UMLS:C0079595 xref: UMLS:C0205219 xref: UMLS:C1269537 xref: UMLS:C1547282 xref: UMLS:C1866186 is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007205 name: Demyelinating peripheral neuropathy, progressive namespace: medical_genetics xref: UMLS:C0011304 xref: UMLS:C0031117 xref: UMLS:C0205329 is_a: HP:0007108 ! Demyelinating peripheral neuropathy [Term] id: HP:0007206 name: Hemimegalencephaly namespace: medical_genetics xref: UMLS:C0431391 is_a: HP:0001355 ! Megalencephaly [Term] id: HP:0007207 name: Seizures, tonic-clonic, photosensitive namespace: medical_genetics xref: UMLS:C0036572 xref: UMLS:C0162830 xref: UMLS:C0349506 xref: UMLS:C2362621 is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0007208 name: Irregular loops and focal folding of myelin sheaths namespace: medical_genetics xref: UMLS:C0026973 xref: UMLS:C0181687 xref: UMLS:C0185026 xref: UMLS:C0205234 xref: UMLS:C0205271 is_a: HP:0004335 ! Abnormal formation of myelin sheaths [Term] id: HP:0007209 name: Facial paralysis due to cranial nerve VII compression namespace: medical_genetics alt_id: HP:0007358 def: "Facial nerve paralysis (facial palsy) caused by compression (with ensuing loss of function) of the facial nerve (i.e., the seventh cranial nerve)." [HPO:curators] synonym: "Facial palsy due to cranial nerve VII compression" EXACT [] xref: UMLS:C0015462 xref: UMLS:C0015469 xref: UMLS:C0332459 xref: UMLS:C0445385 xref: UMLS:C0521670 xref: UMLS:C0565514 xref: UMLS:C0728907 xref: UMLS:C1257972 xref: UMLS:C1305734 is_a: HP:0001293 ! Cranial nerve compression is_a: HP:0010628 ! Facial nerve palsy [Term] id: HP:0007210 name: Lower limb hypotrophy namespace: medical_genetics def: "Underdevelopment of the `lower limb` (FMA:7184)." [HPO:probinson] xref: UMLS:C1846047 is_a: HP:0009816 ! Hypoplasia involving bones of the lower limbs [Term] id: HP:0007211 name: Gradual onset of cognitive impairment namespace: medical_genetics xref: UMLS:C0332164 xref: UMLS:C0338656 is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0007213 name: Late-onset form of familial Alzheimer disease namespace: medical_genetics xref: UMLS:C0013058 xref: UMLS:C0205087 xref: UMLS:C0276496 xref: UMLS:C0332162 xref: UMLS:C0348078 xref: UMLS:C0376315 xref: UMLS:C1522492 is_a: HP:0002511 ! Alzheimer disease [Term] id: HP:0007214 name: Cerebellar ataxia during episodes namespace: medical_genetics xref: UMLS:C0007758 xref: UMLS:C0332189 is_a: HP:0001251 ! Ataxia [Term] id: HP:0007215 name: Secondary hyperkalemic periodic paralysis namespace: medical_genetics xref: UMLS:C0175668 xref: UMLS:C0205436 xref: UMLS:C0238357 xref: UMLS:C1522484 is_a: HP:0003768 ! Periodic paralysis [Term] id: HP:0007216 name: Variable spastic paraplegia namespace: medical_genetics xref: UMLS:C0037772 xref: UMLS:C0439828 xref: UMLS:C1705098 is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0007217 name: Areas of dysmyelination on mri namespace: medical_genetics xref: UMLS:C0024485 xref: UMLS:C1504310 xref: UMLS:C1857639 xref: UMLS:C2183255 is_a: HP:0003469 ! Dysmyelination [Term] id: HP:0007218 name: Markedly delayed nerve conduction velocities namespace: medical_genetics xref: UMLS:C1859175 is_a: HP:0000762 ! Decreased nerve conduction velocities [Term] id: HP:0007220 name: Demyelinating motor neuropathy namespace: medical_genetics xref: UMLS:C1969462 is_a: HP:0007108 ! Demyelinating peripheral neuropathy is_a: HP:0007178 ! Motor polyneuropathy [Term] id: HP:0007221 name: Truncal ataxia, progressive namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0427190 is_a: HP:0002078 ! Truncal ataxia [Term] id: HP:0007222 name: Demyelination in central white matter namespace: medical_genetics xref: UMLS:C0011304 xref: UMLS:C0205099 xref: UMLS:C0682708 xref: UMLS:C1879652 is_a: HP:0003381 ! Demyelination [Term] id: HP:0007223 name: Enlarged fourth ventricle, mild namespace: medical_genetics xref: UMLS:C0547040 xref: UMLS:C1855679 is_a: HP:0002198 ! Enlarged fourth ventricle [Term] id: HP:0007227 name: Brain macrogyria and polymicrogyria namespace: medical_genetics xref: UMLS:C0006104 xref: UMLS:C0266464 xref: UMLS:C0266483 xref: UMLS:C1269537 is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0007228 name: Global developmental delay, severe namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0557874 xref: UMLS:C1519275 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0007229 name: Intracerebral periventricular calcifications namespace: medical_genetics xref: UMLS:C1837246 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0007230 name: Decreased or absent distal sensory nerve action potential namespace: medical_genetics xref: UMLS:C0205108 xref: UMLS:C0205216 xref: UMLS:C0332197 xref: UMLS:C0392756 xref: UMLS:C0522219 is_a: HP:0003134 ! Abnormal motor and sensory nerve conduction [Term] id: HP:0007231 name: Severely reduced nerve conduction velocities namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0392756 xref: UMLS:C0429381 is_a: HP:0000762 ! Decreased nerve conduction velocities [Term] id: HP:0007232 name: Spinocerebellar tract disease in lower limbs namespace: medical_genetics xref: UMLS:C0012634 xref: UMLS:C0023216 xref: UMLS:C0037952 xref: UMLS:C0752211 xref: UMLS:C1185740 is_a: HP:0002503 ! Spinocerebellar tract degeneration [Term] id: HP:0007233 name: Clusters of axonal regeneration namespace: medical_genetics xref: UMLS:C1555715 xref: UMLS:C1621980 xref: UMLS:C1704332 is_a: HP:0003450 ! Axonal regeneration on nerve biopsy [Term] id: HP:0007234 name: Mild to moderate learning difficulties namespace: medical_genetics xref: UMLS:C1861133 is_a: HP:0001328 ! Learning disability [Term] id: HP:0007235 name: Peripheral neuropathy, mild namespace: medical_genetics alt_id: HP:0007355 xref: UMLS:C0031117 xref: UMLS:C0547040 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007236 name: Recurrent subcortical infarcts namespace: medical_genetics xref: UMLS:C0021308 xref: UMLS:C0034897 xref: UMLS:C0815275 is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0007238 name: Cerebral calcification, nonarteriosclerotic namespace: medical_genetics xref: UMLS:C0270685 is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0007239 name: Congenital encephalopathy namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0085584 xref: UMLS:C1744681 xref: UMLS:C1963101 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007240 name: Progressive gait ataxia namespace: medical_genetics alt_id: HP:0002142 def: "A type of `gait ataxia` (HP:0002066) displaying progression of clinical severity." [HPO:probinson] synonym: "Gait ataxia, progressive" EXACT [] xref: UMLS:C0205329 xref: UMLS:C0751837 xref: UMLS:C1843885 is_a: HP:0001329 ! Progressive ataxia is_a: HP:0002066 ! Gait ataxia [Term] id: HP:0007241 name: Absent patellar and Achilles reflexes namespace: medical_genetics xref: UMLS:C0001074 xref: UMLS:C0034929 xref: UMLS:C0436145 xref: UMLS:C0586734 xref: UMLS:C0596002 is_a: HP:0002522 ! Areflexia in lower limbs [Term] id: HP:0007242 name: Loss of very early milestones namespace: medical_genetics xref: UMLS:C0442824 xref: UMLS:C1279919 xref: UMLS:C1517945 xref: UMLS:C2347129 is_a: HP:0002471 ! Loss of developmental milestones [Term] id: HP:0007245 name: Brisk lower extremity reflexes namespace: medical_genetics xref: UMLS:C1836696 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007247 name: Psychomotor regression in infants namespace: medical_genetics xref: UMLS:C0021270 xref: UMLS:C1855019 is_a: HP:0002489 ! Psychomotor regression [Term] id: HP:0007249 name: Decreased number of small myelinated nerve fibers namespace: medical_genetics xref: UMLS:C1850425 is_a: HP:0003380 ! Decreased number of myelinated fibers [Term] id: HP:0007250 name: Recurrent external ophthalmoplegia namespace: medical_genetics xref: UMLS:C0034897 xref: UMLS:C0162292 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007251 name: Severe motor retardation namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0424230 xref: UMLS:C1519275 is_a: HP:0001270 ! Motor retardation [Term] id: HP:0007254 name: Pathologic changes in anterior horn cells and lateral corticospinal tracts namespace: medical_genetics xref: UMLS:C0003154 xref: UMLS:C0152402 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C1289518 xref: UMLS:C1521733 xref: UMLS:C1705241 is_a: HP:0002492 ! Abnormality of the corticospinal tract [Term] id: HP:0007255 name: Spastic paraplegia, slowly progressive namespace: medical_genetics xref: UMLS:C0037772 xref: UMLS:C1864719 is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0007256 name: Pyramidal signs namespace: medical_genetics 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] synonym: "Corticospinal signs" EXACT [] synonym: "Pyramidal tract dysfunction" EXACT [] synonym: "Pyramidal tract signs" EXACT [] xref: UMLS:C0205214 xref: UMLS:C0234132 xref: UMLS:C0521114 xref: UMLS:C0547040 xref: UMLS:C1140621 xref: UMLS:C1709782 xref: UMLS:C1834005 xref: UMLS:C1837544 xref: UMLS:C1846493 is_a: HP:0002062 ! Abnormality of the pyramidal tracts [Term] id: HP:0007257 name: Imaging shows signal abnormalities in basal ganglia namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0004781 xref: UMLS:C0011923 xref: UMLS:C0079595 xref: UMLS:C1321510 xref: UMLS:C1547282 xref: UMLS:C1710082 is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007258 name: Severe demyelination of the white matter namespace: medical_genetics xref: UMLS:C0011304 xref: UMLS:C0205082 xref: UMLS:C0682708 xref: UMLS:C1519275 is_a: HP:0003381 ! Demyelination [Term] id: HP:0007259 name: Brisk deep tendon reflexes namespace: medical_genetics xref: UMLS:C1846176 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007260 name: Type II lissencephaly namespace: medical_genetics alt_id: HP:0006853 def: "A form of `lissencephaly` (HP:0001339) 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: UMLS:C0431376 is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0007261 name: EEG shows 3-4-Hz spike waves namespace: medical_genetics xref: UMLS:C0013819 xref: UMLS:C0439482 xref: UMLS:C0678544 xref: UMLS:C1421479 xref: UMLS:C1547282 is_a: HP:0010850 ! EEG: spike-wave complexes [Term] id: HP:0007262 name: Demyelination, symmetric namespace: medical_genetics xref: UMLS:C0011304 xref: UMLS:C0332516 is_a: HP:0003381 ! Demyelination [Term] id: HP:0007263 name: Spinocerebellar atrophy namespace: medical_genetics xref: UMLS:C0087012 is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0007264 name: Mild mental deterioration namespace: medical_genetics xref: UMLS:C1850759 is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0007265 name: Absent mesencephalon namespace: medical_genetics xref: UMLS:C0025462 xref: UMLS:C0332197 is_a: HP:0002418 ! Abnormality of the midbrain [Term] id: HP:0007266 name: Dysmyelination of the brain namespace: medical_genetics xref: UMLS:C0006104 xref: UMLS:C1269537 xref: UMLS:C1857639 is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0003469 ! Dysmyelination [Term] id: HP:0007267 name: Emg shows chronic axonal neuropathy namespace: medical_genetics xref: UMLS:C0013839 xref: UMLS:C0205191 xref: UMLS:C0270921 xref: UMLS:C1547282 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0003477 ! Axonal neuropathy [Term] id: HP:0007268 name: Aprosencephaly namespace: medical_genetics xref: UMLS:C0431349 is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0007269 name: Spinal muscular atrophy namespace: medical_genetics def: "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] xref: UMLS:C0026847 is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0007270 name: Atypical absence seizures namespace: medical_genetics xref: UMLS:C0595948 is_a: HP:0002121 ! Absence seizures [Term] id: HP:0007271 name: Occipital myelomeningocele namespace: medical_genetics xref: UMLS:C0025312 xref: UMLS:C1184145 is_a: HP:0002436 ! Occipital meningocele [Term] id: HP:0007272 name: Progressive psychomotor deterioration namespace: medical_genetics xref: UMLS:C1856565 is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007274 name: Recurrent bacterial meningitis namespace: medical_genetics xref: UMLS:C1845604 is_a: HP:0006946 ! Recurrent meningitis [Term] id: HP:0007277 name: Paucity of anterior horn motor neurons namespace: medical_genetics xref: UMLS:C0003154 is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0007278 name: Peripheral motor neuropathy, severe namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0235025 xref: UMLS:C1519275 is_a: HP:0007178 ! Motor polyneuropathy [Term] id: HP:0007279 name: Emg shows neurogenic changes and denervation namespace: medical_genetics xref: UMLS:C0011307 xref: UMLS:C0013839 xref: UMLS:C0392747 xref: UMLS:C1321798 xref: UMLS:C1522415 xref: UMLS:C1547282 xref: UMLS:C1705241 is_a: HP:0003445 ! EMG: neuropathic changes [Term] id: HP:0007280 name: Acute infantile spinal muscular atrophy namespace: medical_genetics xref: UMLS:C0043116 xref: UMLS:C0205178 is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0007281 name: Developmental arrest namespace: medical_genetics xref: UMLS:C1848980 is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0007282 name: Sural nerve biopsy shows mild demyelination namespace: medical_genetics xref: UMLS:C0011304 xref: UMLS:C0547040 xref: UMLS:C0740403 xref: UMLS:C1547282 is_a: HP:0003381 ! Demyelination [Term] id: HP:0007283 name: Dementia, progressive, with onset of disease namespace: medical_genetics xref: UMLS:C0012634 xref: UMLS:C0205329 xref: UMLS:C0332162 xref: UMLS:C0497327 is_a: HP:0002274 ! Dementia, progressive [Term] id: HP:0007284 name: Myoclonic seizures may occur namespace: medical_genetics def: "Myoclonic seizures may occur in some patients affected." [HPO:curators] comment: This term should not be used for new annotations, instead annotate to the term Myoclonic seizures and use the annotation to state what proportion of affected patients have myoclonic seizures. This term will be obsoleted in the future. xref: UMLS:C0014550 xref: UMLS:C1709305 is_a: HP:0002123 ! Myoclonic seizures [Term] id: HP:0007285 name: Facial palsy, secondary to cranial hyperostosis namespace: medical_genetics def: "Paralysis of the facial nerves on the basis of overgrowth of the cranial bones causing impingement upon the seventh cranial nerve." [HPO:curators] xref: UMLS:C0015469 xref: UMLS:C0020492 xref: UMLS:C0037303 xref: UMLS:C0175668 xref: UMLS:C0205096 xref: UMLS:C0205436 xref: UMLS:C1522484 is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0007286 name: Nystagmus, jerky, horizontal, congenital namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0028738 xref: UMLS:C0205126 xref: UMLS:C1744681 xref: UMLS:C1963184 is_a: HP:0000666 ! Nystagmus, horizontal [Term] id: HP:0007287 name: Peripheral polyneuropathy, esp vibration and touch loss namespace: medical_genetics xref: UMLS:C0015373 xref: UMLS:C0037747 xref: UMLS:C0152025 xref: UMLS:C0152054 xref: UMLS:C0205100 xref: UMLS:C0439815 xref: UMLS:C0455941 xref: UMLS:C0459800 xref: UMLS:C0702221 xref: UMLS:C1421982 xref: UMLS:C1517945 xref: UMLS:C1883532 is_a: HP:0001271 ! Polyneuropathy [Term] id: HP:0007289 name: Limb fasciculations namespace: medical_genetics alt_id: HP:0007049 def: "Fasciculations affecting the musculature of the arms and legs." [HPO:curators] synonym: "Limb fasciculation" EXACT [] xref: UMLS:C1854657 is_a: HP:0002380 ! Fasciculations [Term] id: HP:0007290 name: Sural nerve biopsy shows excessive focal folding of myelin sheaths namespace: medical_genetics xref: UMLS:C0026973 xref: UMLS:C0185026 xref: UMLS:C0205234 xref: UMLS:C0442802 xref: UMLS:C0740403 xref: UMLS:C1547282 is_a: HP:0004335 ! Abnormal formation of myelin sheaths [Term] id: HP:0007291 name: Posterior fossa cysts namespace: medical_genetics alt_id: HP:0006985 synonym: "Posterior fossa cyst" EXACT [] xref: UMLS:C1857353 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa is_a: HP:0010576 ! Cystic malformations affecting the central nervous system [Term] id: HP:0007292 name: Severe distal sensory loss namespace: medical_genetics xref: UMLS:C1843184 is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0007293 name: Anterior sacral meningocele namespace: medical_genetics xref: UMLS:C1867776 is_a: HP:0005765 ! Sacral meningocele [Term] id: HP:0007294 name: Myoclonic seizures, frequent, long-lasting namespace: medical_genetics def: "Frequent and long-lasting myoclonic seizures." [HPO:curators] xref: UMLS:C0014550 xref: UMLS:C0205166 xref: UMLS:C0332183 xref: UMLS:C0335882 xref: UMLS:C1706317 is_a: HP:0002123 ! Myoclonic seizures [Term] id: HP:0007295 name: Chaotic rapid conjugate ocular movements namespace: medical_genetics xref: UMLS:C0026649 xref: UMLS:C0301869 xref: UMLS:C0439831 xref: UMLS:C1299003 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007297 name: Postural tremor of arms namespace: medical_genetics xref: UMLS:C0234378 xref: UMLS:C0446516 is_a: HP:0002174 ! Postural tremor [Term] id: HP:0007299 name: Dysfunction of lateral corticospinal tracts namespace: medical_genetics xref: UMLS:C0031847 xref: UMLS:C0152402 xref: UMLS:C0277785 xref: UMLS:C1289518 is_a: HP:0002492 ! Abnormality of the corticospinal tract [Term] id: HP:0007300 name: Severe delay in myelination namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0205421 xref: UMLS:C0596991 xref: UMLS:C1519275 is_a: HP:0002188 ! Delayed myelination [Term] id: HP:0007301 name: Oromotor apraxia namespace: medical_genetics xref: UMLS:C0003635 is_a: HP:0002186 ! Apraxia [Term] id: HP:0007302 name: Bipolar affective disorder namespace: medical_genetics alt_id: HP:0000755 synonym: "Bipolar disorder" EXACT [] xref: UMLS:C0005586 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0007304 name: Nerve biopsy shows axonal degeneration namespace: medical_genetics xref: UMLS:C0005558 xref: UMLS:C0027740 xref: UMLS:C0220797 xref: UMLS:C1280541 xref: UMLS:C1547282 xref: UMLS:C1837496 is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0007305 name: Cns demyelination namespace: medical_genetics xref: UMLS:C0338474 is_a: HP:0003381 ! Demyelination [Term] id: HP:0007306 name: MRI shows congenital abnormalities of the posterior fossa namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0024485 xref: UMLS:C1116439 xref: UMLS:C1547282 xref: UMLS:C2183255 is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0007307 name: Rapid neurologic deterioration namespace: medical_genetics xref: UMLS:C0439831 xref: UMLS:C1850767 is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007308 name: Extrapyramidal dyskinesia namespace: medical_genetics xref: UMLS:C1848528 is_a: HP:0002071 ! Extrapyramidal signs is_a: HP:0100660 ! Dyskinesis [Term] id: HP:0007311 name: Short stepped shuffling gait namespace: medical_genetics xref: UMLS:C1112468 xref: UMLS:C2584310 is_a: HP:0002362 ! Shuffling gait [Term] id: HP:0007312 name: Atrophy of cerebellar vermis namespace: medical_genetics xref: UMLS:C0228482 xref: UMLS:C0333641 xref: UMLS:C1281000 is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007313 name: Cerebral degeneration namespace: medical_genetics xref: UMLS:C0154671 is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0007314 name: White matter neuronal heterotopia namespace: medical_genetics xref: UMLS:C1855774 is_a: HP:0007317 ! Heterotopias/abnormal migration [Term] id: HP:0007316 name: Involuntary writhing movements namespace: medical_genetics xref: UMLS:C1845265 is_a: HP:0004305 ! Involuntary muscle contractions [Term] id: HP:0007317 name: Heterotopias/abnormal migration namespace: medical_genetics xref: UMLS:C0008519 xref: UMLS:C0205161 xref: UMLS:C0600210 xref: UMLS:C1533574 xref: UMLS:C1881827 xref: UMLS:C2347472 is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0007318 name: Spasticity, hyperreflexia namespace: medical_genetics xref: UMLS:C0026838 xref: UMLS:C0151889 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007319 name: Malformation of the central nervous system namespace: medical_genetics def: "A structural brain anomaly." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0205099 xref: UMLS:C0243070 xref: UMLS:C0497552 xref: UMLS:C0927232 xref: UMLS:C1269563 xref: UMLS:C1879652 is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0007321 name: Deep white matter hypodensities namespace: medical_genetics xref: UMLS:C1856979 is_a: HP:0007103 ! Hypodensity of cerebral white matter on MRI [Term] id: HP:0007323 name: MRI shows defects of the corpus callosum namespace: medical_genetics xref: UMLS:C0010090 xref: UMLS:C0024485 xref: UMLS:C0243067 xref: UMLS:C1547282 xref: UMLS:C2183255 is_a: HP:0001273 ! Abnormality of the corpus callosum [Term] id: HP:0007325 name: Generalized dystonia namespace: medical_genetics def: "A type of `dystonia` (HP:0001332) that affects all or most of the body." [HPO:probinson] xref: UMLS:C1848954 is_a: HP:0001332 ! Dystonia [Term] id: HP:0007326 name: Progressive choreoathetosis namespace: medical_genetics xref: UMLS:C1860216 is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0007327 name: Mixed demyelinating and axonal polyneuropathy namespace: medical_genetics xref: UMLS:C0004461 xref: UMLS:C0011304 xref: UMLS:C0152025 xref: UMLS:C0205430 is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007328 name: Decreased pain sensation namespace: medical_genetics def: "Reduced ability to perceive painful stimuli." [HPO:curators] xref: UMLS:C1837522 is_a: HP:0010832 ! Abnormality of pain sensation [Term] id: HP:0007330 name: Frontal encephalocele namespace: medical_genetics xref: UMLS:C0431289 is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007332 name: Seizures, partial, often hemifacial namespace: medical_genetics xref: UMLS:C0036572 xref: UMLS:C0332183 xref: UMLS:C0728938 xref: UMLS:C1550516 is_a: HP:0007359 ! Partial seizures [Term] id: HP:0007333 name: Hypoplasia of the frontal lobes namespace: medical_genetics alt_id: HP:0002424 def: "Underdevelopment of the `frontal lobe` (FMA:61824) of the cerebrum." [HPO:sdoelken] synonym: "Frontal lobe hypoplasia" EXACT [] synonym: "Hypoplastic frontal lobes" EXACT [] xref: UMLS:C1849172 xref: UMLS:C1859453 xref: UMLS:C2237042 is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0006872 ! Cerebral hypoplasia [Term] id: HP:0007334 name: Partial seizures with secondary generalization namespace: medical_genetics def: "`Partial seizures` (HP:0007359) with secondary evolution into a `generalized seizures` (HP:0002197)." [HPO:probinson] xref: UMLS:C0751495 xref: UMLS:C0815106 is_a: HP:0007359 ! Partial seizures [Term] id: HP:0007335 name: Encephalopathy, recurrent namespace: medical_genetics xref: UMLS:C0034897 xref: UMLS:C0085584 xref: UMLS:C1963101 is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007337 name: Non-purposeful arm movements, choreoathetoid-like namespace: medical_genetics xref: UMLS:C0026649 xref: UMLS:C0085583 xref: UMLS:C0446516 xref: UMLS:C1140618 xref: UMLS:C1269078 xref: UMLS:C1269612 xref: UMLS:C1285529 xref: UMLS:C1412877 xref: UMLS:C1518422 is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0007338 name: Hypermetric saccades namespace: medical_genetics xref: UMLS:C0423083 is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0007340 name: Lower limb muscle weakness namespace: medical_genetics 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: "Lower extremity weakness" EXACT [] synonym: "Lower limb weakness" EXACT [] synonym: "Muscle weakness in lower limbs" EXACT [] xref: UMLS:C0004093 xref: UMLS:C0023216 xref: UMLS:C0026845 xref: UMLS:C0151786 xref: UMLS:C0441994 xref: UMLS:C0740428 xref: UMLS:C1835991 xref: UMLS:C1836296 xref: UMLS:C1883552 xref: UMLS:C2362789 xref: UMLS:C2364118 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0007341 name: Diffuse swelling of cerebral white matter namespace: medical_genetics xref: UMLS:C0013604 xref: UMLS:C0038999 xref: UMLS:C0152295 xref: UMLS:C0205219 xref: UMLS:C1284115 is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007343 name: Limbic malformations namespace: medical_genetics xref: UMLS:C1863392 is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0007344 name: Atrophy/Degeneration involving the spinal cord namespace: medical_genetics synonym: "Atrophic and degenerative changes in the spinal cord" EXACT [] xref: UMLS:C0011164 xref: UMLS:C0037925 xref: UMLS:C0151514 xref: UMLS:C0333641 xref: UMLS:C1278836 xref: UMLS:C1314939 xref: UMLS:C1880269 is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0007345 name: Distal sensory and motor axonal neuropathy namespace: medical_genetics xref: UMLS:C0205108 xref: UMLS:C0270921 xref: UMLS:C0445254 xref: UMLS:C1513492 xref: UMLS:C1705994 is_a: HP:0003390 ! Sensory axonal neuropathy [Term] id: HP:0007346 name: Subcortical white matter calcifications namespace: medical_genetics xref: UMLS:C1851430 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 namespace: medical_genetics xref: UMLS:C1850871 is_a: HP:0007363 ! Aplasia/Hypoplasia of the pyramidal tract [Term] id: HP:0007349 name: Distal motor neuropathy namespace: medical_genetics xref: UMLS:C1854570 is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0007350 name: Hyperreflexia in upper limbs namespace: medical_genetics xref: UMLS:C0151889 xref: UMLS:C1140618 is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007351 name: Upper limb postural tremor namespace: medical_genetics xref: UMLS:C1867138 is_a: HP:0002174 ! Postural tremor [Term] id: HP:0007352 name: Cerebellar calcifications namespace: medical_genetics xref: UMLS:C1851431 is_a: HP:0001317 ! Abnormality of the cerebellum is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0007354 name: Amyotrophic lateral sclerosis namespace: medical_genetics xref: UMLS:C0002736 is_a: HP:0007373 ! Atrophy/Degeneration involving motor neurons [Term] id: HP:0007357 name: Occipital meningoencephalocele namespace: medical_genetics xref: UMLS:C0266456 xref: UMLS:C1184145 is_a: HP:0002085 ! Occipital encephalocele [Term] id: HP:0007359 name: Partial seizures namespace: medical_genetics def: "Recurrent partial `seizures` (HP:0001250). In a partial seizure, the electrical disturbance is limited to one part or side of the brain. That is, partial epilepsies are epileptic disorders in which clinical or laboratory findings disclose a localized origin of seizures." [HPO:curators] comment: Partial seizures can be classified as simple (consciousness is maintained) or complex (consciousness is impaired or lost). synonym: "Focal seizures" EXACT [] xref: UMLS:C0751495 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 namespace: medical_genetics 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 [] xref: UMLS:C0007765 xref: UMLS:C0011164 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0266470 xref: UMLS:C0333641 xref: UMLS:C0334079 xref: UMLS:C0392760 xref: UMLS:C0543481 xref: UMLS:C1268981 xref: UMLS:C1314939 xref: UMLS:C1880269 is_a: HP:0001317 ! Abnormality of the cerebellum is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-03-31T05:30:00Z [Term] id: HP:0007361 name: Abnormality of the pons namespace: medical_genetics comment: The pons is the portion of the brainstem superior to the medulla oblongata. xref: UMLS:C0000768 xref: UMLS:C0032639 xref: UMLS:C1280999 xref: UMLS:C1704258 is_a: HP:0002363 ! Abnormality of the brainstem created_by: peter creation_date: 2008-03-31T05:32:00Z [Term] id: HP:0007362 name: Aplasia/Hypoplasia of the brainstem namespace: medical_genetics xref: UMLS:C0006121 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1306665 is_a: HP:0002363 ! Abnormality of the brainstem 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 namespace: medical_genetics xref: UMLS:C0034229 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 is_a: HP:0002062 ! Abnormality of the pyramidal tracts 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 namespace: medical_genetics xref: UMLS:C0039452 xref: UMLS:C0228174 xref: UMLS:C0242202 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1280654 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 namespace: medical_genetics xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0936236 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0006121 xref: UMLS:C0011164 xref: UMLS:C0333641 xref: UMLS:C0392760 xref: UMLS:C1306665 xref: UMLS:C1314939 xref: UMLS:C1880269 is_a: HP:0002363 ! Abnormality of the brainstem 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 namespace: medical_genetics xref: UMLS:C0011164 xref: UMLS:C0333641 xref: UMLS:C0392760 xref: UMLS:C0927232 xref: UMLS:C1269563 xref: UMLS:C1314939 xref: UMLS:C1880269 is_a: HP:0002011 ! 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 namespace: medical_genetics xref: UMLS:C0011164 xref: UMLS:C0039452 xref: UMLS:C0228174 xref: UMLS:C0242202 xref: UMLS:C0333641 xref: UMLS:C0392760 xref: UMLS:C1280654 xref: UMLS:C1314939 xref: UMLS:C1880269 is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-04-01T10:28:00Z [Term] id: HP:0007370 name: Aplasia/Hypoplasia of the corpus callosum namespace: medical_genetics 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:curators] 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 [] xref: UMLS:C0000846 xref: UMLS:C0010090 xref: UMLS:C0175754 xref: UMLS:C0227813 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0332907 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1689985 xref: UMLS:C1853617 xref: UMLS:C2107118 xref: UMLS:C2119045 is_a: HP:0001273 ! Abnormality of the corpus callosum is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum created_by: peter creation_date: 2008-04-01T10:35:00Z [Term] id: HP:0007371 name: Atrophy/Degeneration of the corpus callosum namespace: medical_genetics 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: "Corpus callosum atrophy" EXACT [] xref: UMLS:C0010090 xref: UMLS:C0011164 xref: UMLS:C0333641 xref: UMLS:C1837332 xref: UMLS:C1880269 is_a: HP:0001273 ! Abnormality of the corpus callosum is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum created_by: peter creation_date: 2008-04-01T10:36:00Z [Term] id: HP:0007372 name: Atrophy/Degeneration involving the corticospinal tracts namespace: medical_genetics xref: UMLS:C0011164 xref: UMLS:C0333641 xref: UMLS:C0936236 xref: UMLS:C1314939 xref: UMLS:C1880269 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: Atrophy/Degeneration involving motor neurons namespace: medical_genetics xref: UMLS:C0011164 xref: UMLS:C0026609 xref: UMLS:C0333641 xref: UMLS:C1314939 xref: UMLS:C1880269 is_a: HP:0002450 ! Abnormality of the motor neurons 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 namespace: medical_genetics xref: UMLS:C0007461 xref: UMLS:C0011164 xref: UMLS:C0333641 xref: UMLS:C1269580 xref: UMLS:C1314939 xref: UMLS:C1880269 is_a: HP:0002339 ! Abnormality of the caudate nucleus is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-04-01T10:47:00Z [Term] id: HP:0007375 name: Abnormality of the septum pellucidum namespace: medical_genetics def: "An abnormality of the `septum pellucidum` (FMA:61844), which is a thin, triangular, vertical membrane separating the lateral ventricles of the brain." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0036700 xref: UMLS:C1704258 is_a: HP:0002060 ! Abnormality of the cerebrum created_by: peter creation_date: 2008-04-01T10:48:00Z [Term] id: HP:0007376 name: Abnormality of the choroid plexus namespace: medical_genetics def: "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." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0008524 xref: UMLS:C1280704 xref: UMLS:C1704258 xref: UMLS:C2326827 is_a: HP:0002118 ! Abnormality of the cerebral ventricles created_by: peter creation_date: 2008-04-01T10:52:00Z [Term] id: HP:0007377 name: Abnormality of somatosensory evoked potentials namespace: medical_genetics 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 [] xref: UMLS:C0000768 xref: UMLS:C0015216 xref: UMLS:C1305867 xref: UMLS:C1704258 is_a: HP:0001311 ! Neurophysiological abnormality is_a: HP:0001333 ! Abnormality of the sensory nervous system created_by: peter creation_date: 2008-04-01T11:23:00Z [Term] id: HP:0007378 name: Gastrointestinal tract neoplasia namespace: medical_genetics synonym: "Gastrointestinal tract tumors" EXACT [] xref: UMLS:C0017189 xref: UMLS:C0027651 xref: UMLS:C1281182 is_a: HP:0002664 ! Neoplasia created_by: peter creation_date: 2008-04-01T11:55:00Z [Term] id: HP:0007379 name: Genitourinary tract neoplasm namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `genitourinary system` (FMA:280610)." [HPO:probinson] synonym: "Genitourinary tract neoplasia" RELATED [] synonym: "Genitourinary tract tumors" EXACT [] xref: UMLS:C0027651 xref: UMLS:C0042065 xref: UMLS:C0042066 xref: UMLS:C1283794 is_a: HP:0000119 ! Abnormality of the genitourinary system is_a: HP:0002664 ! Neoplasia created_by: peter creation_date: 2008-04-01T12:00:00Z [Term] id: HP:0007380 name: Facial telangiectatic vessels namespace: medical_genetics alt_id: HP:0007520 def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face." [HPO:curators] synonym: "Telangiectasia, facial" EXACT [] xref: UMLS:C0005847 xref: UMLS:C0015450 xref: UMLS:C0039446 xref: UMLS:C0524465 xref: UMLS:C0858684 xref: UMLS:C1963248 is_a: HP:0100585 ! Teleangiectasia of the skin [Term] id: HP:0007381 name: Congenital exfoliative erythroderma namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0011606 xref: UMLS:C1744681 is_a: HP:0001019 ! Erythroderma [Term] id: HP:0007383 name: Congenital localized absence of skin namespace: medical_genetics alt_id: HP:0007557 synonym: "Congenital localized skin absence" EXACT [] xref: UMLS:C0332907 xref: UMLS:C0392752 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007384 name: Aberrant melanosome maturation namespace: medical_genetics xref: UMLS:C1969516 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007385 name: Aplasia cutis congenita of scalp namespace: medical_genetics alt_id: HP:0000994 alt_id: HP:0007568 def: "A developmental defect resulting in the congenital absence of skin on the scalp." [HPO:curators] synonym: "Scalp aplasia cutis congenita" EXACT [] synonym: "Scalp defect" EXACT [] xref: UMLS:C0036270 xref: UMLS:C0282160 xref: UMLS:C1278997 xref: UMLS:C1855698 xref: UMLS:C1865046 xref: UMLS:C2240381 is_a: HP:0001057 ! Aplasia cutis congenita [Term] id: HP:0007386 name: Neurofibromas may or may not be present namespace: medical_genetics xref: UMLS:C0027830 xref: UMLS:C0150312 xref: UMLS:C0449450 xref: UMLS:C1518422 is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0007387 name: Hypoplastic sweat glands namespace: medical_genetics def: "Underdevelopment of the sweat glands." [HPO:curators] xref: UMLS:C1832455 is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0007388 name: Congenital lamellar ichthyosis namespace: medical_genetics xref: UMLS:C1850540 is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007390 name: Hyperkeratosis with erythema namespace: medical_genetics xref: UMLS:C0041834 xref: UMLS:C0870082 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007391 name: Redundant skin folds namespace: medical_genetics xref: UMLS:C1855241 is_a: HP:0001582 ! Loose, redundant skin [Term] id: HP:0007392 name: Excessive wrinkled skin namespace: medical_genetics xref: UMLS:C0037301 xref: UMLS:C0442802 xref: UMLS:C1399774 xref: UMLS:C1883564 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin is_a: HP:0100678 ! Wrinkled skin [Term] id: HP:0007393 name: Diffusely thickened skin namespace: medical_genetics xref: UMLS:C0205219 xref: UMLS:C0205400 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 is_a: HP:0001072 ! Thickened skin [Term] id: HP:0007394 name: Prominent superficial blood vessels namespace: medical_genetics alt_id: HP:0007577 synonym: "Prominent superficial vasculature" EXACT [] xref: UMLS:C0205124 xref: UMLS:C0425660 xref: UMLS:C1848771 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0007395 name: Postnatal-onset ichthyosis namespace: medical_genetics xref: UMLS:C0020757 xref: UMLS:C0020758 xref: UMLS:C0332162 xref: UMLS:C0443281 is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007396 name: Early cutaneous photosensitivity namespace: medical_genetics def: "Photosensitivity of the skin occurring early in life." [HPO:curators] xref: UMLS:C0349506 xref: UMLS:C1279919 is_a: HP:0000992 ! Photosensitivity [Term] id: HP:0007397 name: Axillary apocrine gland hypoplasia namespace: medical_genetics def: "Developmental hypoplasia of the `apocrine sweat glands` (FMA:59155) in the region of the `axilla` (FMA:24864)." [HPO:probinson] xref: UMLS:C1867003 is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0007398 name: Asymmetric, linear skin defects namespace: medical_genetics xref: UMLS:C0205132 xref: UMLS:C0243067 xref: UMLS:C0332514 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007399 name: Telangiectases of palms and soles namespace: medical_genetics xref: UMLS:C0039446 xref: UMLS:C0230463 xref: UMLS:C0682477 is_a: HP:0100585 ! Teleangiectasia of the skin [Term] id: HP:0007400 name: Irregular hyperpigmentation namespace: medical_genetics xref: UMLS:C1860236 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007401 name: Primary noninflammatory macular atrophy namespace: medical_genetics xref: UMLS:C0442743 xref: UMLS:C0544860 is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007402 name: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines namespace: medical_genetics xref: UMLS:C0162834 xref: UMLS:C0162835 xref: UMLS:C1504310 xref: UMLS:C1517938 xref: UMLS:C1518422 xref: UMLS:C1548328 xref: UMLS:C1553412 xref: UMLS:C1719822 xref: UMLS:C1876214 xref: UMLS:C1962962 xref: UMLS:C1963139 is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007403 name: Hypertrophy of skin of soles namespace: medical_genetics xref: UMLS:C0020564 xref: UMLS:C0230463 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0007404 name: Nonepidermolytic palmoplantar keratoderma namespace: medical_genetics xref: UMLS:C1833030 is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007406 name: Hyperpigmentation of eyelids namespace: medical_genetics xref: UMLS:C0015426 xref: UMLS:C0162834 xref: UMLS:C1962962 xref: UMLS:C2228440 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007407 name: Excessive skin wrinkling on dorsum of hands and fingers namespace: medical_genetics xref: UMLS:C0004600 xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0037301 xref: UMLS:C0442802 xref: UMLS:C0549188 xref: UMLS:C1399774 xref: UMLS:C1705106 xref: UMLS:C1883564 is_a: HP:0007392 ! Excessive wrinkled skin [Term] id: HP:0007408 name: Tegumentary leishmaniasis susceptibility namespace: medical_genetics xref: UMLS:C0012655 xref: UMLS:C0220898 xref: UMLS:C1264642 xref: UMLS:C1547045 xref: UMLS:C1865924 is_a: HP:0002964 ! Susceptibility to infection [Term] id: HP:0007409 name: Absence of subcutaneous fat over entire body except buttocks, hips, and thighs namespace: medical_genetics xref: UMLS:C0006497 xref: UMLS:C0019552 xref: UMLS:C0039866 xref: UMLS:C0222331 xref: UMLS:C0439751 xref: UMLS:C0444667 xref: UMLS:C0460148 xref: UMLS:C1268086 xref: UMLS:C1551342 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0007410 name: Palmoplantar hyperhidrosis namespace: medical_genetics xref: UMLS:C1274743 is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0007411 name: Hypoplastic-absent sebaceous glands namespace: medical_genetics xref: UMLS:C1844617 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007412 name: Macular hyperpigmented dermopathy namespace: medical_genetics xref: UMLS:C0332574 xref: UMLS:C0333615 xref: UMLS:C0743098 is_a: HP:0001034 ! Hyperpigmented macules [Term] id: HP:0007413 name: Nevus flammeus of the forehead namespace: medical_genetics def: "`Naevus flammeus` (HP:0001052) localised in the skin of the forehead." [HPO:sdoelken] xref: UMLS:C0016540 xref: UMLS:C0235752 xref: UMLS:C2226974 is_a: HP:0001052 ! Nevus flammeus [Term] id: HP:0007414 name: Neonatal wrinkled skin of hands and feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0018563 xref: UMLS:C0021289 xref: UMLS:C0037301 xref: UMLS:C0347981 xref: UMLS:C1552240 xref: UMLS:C1552264 is_a: HP:0100678 ! Wrinkled skin [Term] id: HP:0007415 name: Xeroderma pigmentosum namespace: medical_genetics xref: UMLS:C0043346 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0007416 name: Multiple truncal cafe-au-lait spots namespace: medical_genetics xref: UMLS:C0460005 xref: UMLS:C1280632 xref: UMLS:C1861975 is_a: HP:0000957 ! Cafe-au-lait spots [Term] id: HP:0007417 name: Discoid lupus erythematosus namespace: medical_genetics xref: UMLS:C0024138 is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0007418 name: Alopecia totalis namespace: medical_genetics xref: UMLS:C0263504 is_a: HP:0001596 ! Alopecia [Term] id: HP:0007419 name: Pale pigmentation namespace: medical_genetics xref: UMLS:C1849923 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007420 name: Spontaneous hematomas namespace: medical_genetics xref: UMLS:C1697453 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0007421 name: Telangiectases of the cheeks namespace: medical_genetics def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks." [HPO:curators] xref: UMLS:C0007966 xref: UMLS:C0039446 is_a: HP:0007380 ! Facial telangiectatic vessels [Term] id: HP:0007423 name: Inflammatory skin disease namespace: medical_genetics xref: UMLS:C0037274 xref: UMLS:C0333348 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C1290884 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0007425 name: Excessively stretchable skin of face and chest namespace: medical_genetics xref: UMLS:C0015450 xref: UMLS:C0442802 xref: UMLS:C0558242 xref: UMLS:C0817096 xref: UMLS:C1281591 xref: UMLS:C1456858 xref: UMLS:C1527391 is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0007426 name: Progressive systemic scleroderma namespace: medical_genetics xref: UMLS:C0036421 xref: UMLS:C0205329 xref: UMLS:C0205373 xref: UMLS:C1258104 is_a: HP:0100324 ! Scleroderma [Term] id: HP:0007427 name: Reticulated skin pigmentation namespace: medical_genetics xref: UMLS:C0037290 xref: UMLS:C0439739 xref: UMLS:C1269684 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007428 name: Telangiectasia on lips and oral mucosa namespace: medical_genetics xref: UMLS:C0023759 xref: UMLS:C0026639 xref: UMLS:C0039446 xref: UMLS:C1963248 is_a: HP:0000228 ! Teleangiectases in oral cavity [Term] id: HP:0007429 name: Few pale relatively large cafe-au-lait spots namespace: medical_genetics xref: UMLS:C0030232 xref: UMLS:C0080103 xref: UMLS:C0205345 xref: UMLS:C0221263 xref: UMLS:C0549177 xref: UMLS:C0678215 xref: UMLS:C1547039 xref: UMLS:C1971630 is_a: HP:0000957 ! Cafe-au-lait spots [Term] id: HP:0007430 name: Generalized edema namespace: medical_genetics 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:C0151603 xref: UMLS:C1850534 is_a: HP:0000969 ! Edema [Term] id: HP:0007431 name: Congenital ichthyosiform erythroderma namespace: medical_genetics xref: UMLS:C0079583 is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007432 name: Intermittent generalized erythematous papular rash namespace: medical_genetics xref: UMLS:C0205267 xref: UMLS:C0221202 xref: UMLS:C0849916 is_a: HP:0200034 ! skin papules [Term] id: HP:0007433 name: Mild-moderate bruisability namespace: medical_genetics xref: UMLS:C1861191 is_a: HP:0000978 ! Ecchymoses [Term] id: HP:0007434 name: Hemangioma, facial, plaque-like namespace: medical_genetics def: "Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology." [HPO:curators] xref: UMLS:C0015450 xref: UMLS:C0018916 xref: UMLS:C0439644 xref: UMLS:C0524465 is_a: HP:0000329 ! Facial hemangioma [Term] id: HP:0007435 name: Diffuse palmoplantar keratoderma namespace: medical_genetics xref: UMLS:C0022584 is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007436 name: Hair-nail ectodermal dysplasia namespace: medical_genetics xref: UMLS:C0013574 xref: UMLS:C0013575 xref: UMLS:C0018494 xref: UMLS:C0027342 xref: UMLS:C0444077 xref: UMLS:C0444095 xref: UMLS:C0521458 xref: UMLS:C1546660 xref: UMLS:C1834405 is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007437 name: Multiple cutaneous leiomyomas namespace: medical_genetics def: "The presence of `multiple` (PATO:0002118) `leiomyomas` (MPATH:425) of the `skin` (FMA:7163)." [HPO:probinson] xref: UMLS:C1835485 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0007438 name: 'mottled' pigmentation of the trunk and proximal extremities namespace: medical_genetics xref: UMLS:C0015385 xref: UMLS:C0205107 xref: UMLS:C0460005 xref: UMLS:C0860439 xref: UMLS:C1280632 is_a: HP:0001070 ! Mottled pigmentation [Term] id: HP:0007439 name: Generalized keratosis follicularis namespace: medical_genetics xref: UMLS:C0022595 xref: UMLS:C0205246 is_a: HP:0001035 ! Abnormality of keratinization [Term] id: HP:0007440 name: Generalized hyperpigmentation namespace: medical_genetics xref: UMLS:C0162834 xref: UMLS:C0205246 xref: UMLS:C1962962 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007441 name: Hyperpigmented/hypopigmented macules namespace: medical_genetics xref: UMLS:C0333615 xref: UMLS:C2047793 is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin is_a: HP:0200031 ! macules [Term] id: HP:0007442 name: Hyperpigmented erythematous lesions namespace: medical_genetics xref: UMLS:C0221198 xref: UMLS:C0332476 xref: UMLS:C0333615 is_a: HP:0001034 ! Hyperpigmented macules [Term] id: HP:0007443 name: Partial albinism namespace: medical_genetics xref: UMLS:C0080024 xref: UMLS:C1876214 is_a: HP:0001022 ! Albinism [Term] id: HP:0007445 name: Moderate plantar hyperkeratosis namespace: medical_genetics xref: UMLS:C0205081 xref: UMLS:C1856954 xref: UMLS:C1881878 is_a: HP:0007556 ! Plantar hyperkeratosis [Term] id: HP:0007446 name: Epidermolysis bullosa involving hands and feet only namespace: medical_genetics xref: UMLS:C0014527 xref: UMLS:C0016504 xref: UMLS:C0018563 xref: UMLS:C0347981 xref: UMLS:C1314939 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0007447 name: Hyperkeratosis, diffuse palmoplantar namespace: medical_genetics xref: UMLS:C0205219 xref: UMLS:C0870082 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007448 name: Hyperkeratosis over edematous areas namespace: medical_genetics xref: UMLS:C0013604 xref: UMLS:C0870082 xref: UMLS:C1504310 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0000969 ! Edema [Term] id: HP:0007449 name: Confetti-like hypopigmented macules namespace: medical_genetics xref: UMLS:C2047793 is_a: HP:0009719 ! Hypomelanotic macules [Term] id: HP:0007450 name: Increased groin pigmentation with raindrop depigmentation namespace: medical_genetics xref: UMLS:C0018246 xref: UMLS:C0031911 xref: UMLS:C0162835 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C0816951 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007451 name: Ipsilateral lack of facial sweating namespace: medical_genetics xref: UMLS:C0015450 xref: UMLS:C0038990 xref: UMLS:C0332268 xref: UMLS:C0441989 xref: UMLS:C0524465 is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0007452 name: Midface capillary hemangioma namespace: medical_genetics alt_id: HP:0007611 synonym: "Midfacial capillary hemangioma" EXACT [] xref: UMLS:C1849377 is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007453 name: Flexural lichenification in adults namespace: medical_genetics xref: UMLS:C0001675 xref: UMLS:C0023653 xref: UMLS:C0439748 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0007454 name: Cafe-au-lait spots may or may not be present namespace: medical_genetics xref: UMLS:C0150312 xref: UMLS:C0221263 xref: UMLS:C0449450 xref: UMLS:C1518422 is_a: HP:0000957 ! Cafe-au-lait spots [Term] id: HP:0007455 name: Adermatoglyphia namespace: medical_genetics xref: UMLS:C1852150 is_a: HP:0007477 ! Abnormal dermatoglyphics [Term] id: HP:0007456 name: Progressive reticulate hyperpigmentation namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C1851972 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007457 name: Prominent thoracic and abdominal veins namespace: medical_genetics xref: UMLS:C0205402 xref: UMLS:C0226725 is_a: HP:0001015 ! Prominent superficial veins [Term] id: HP:0007458 name: Focal hyperextensible skin namespace: medical_genetics xref: UMLS:C0205234 xref: UMLS:C1844593 is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0007459 name: Generalized anhidrosis namespace: medical_genetics xref: UMLS:C0003028 xref: UMLS:C0205246 is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0007460 name: Autoamputation of digits namespace: medical_genetics xref: UMLS:C0582802 xref: UMLS:C1833222 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001218 ! Autoamputation [Term] id: HP:0007461 name: Hemangiomatosis namespace: medical_genetics xref: UMLS:C1384590 is_a: HP:0001028 ! Hemangiomas [Term] id: HP:0007462 name: Bitot spots of the conjunctiva namespace: medical_genetics def: "Keratinization of the bulbar conjunctiva near the limbus (corneoscleral junction), resulting in a raised spot. Bitot spots can be a feature of vitamin A deficiency." [HPO:curators] synonym: "Bitot's spots" RELATED [] xref: UMLS:C0009758 xref: UMLS:C0423178 xref: UMLS:C1278888 is_a: HP:0000502 ! Abnormality of the conjunctiva [Term] id: HP:0007463 name: Frequent bleeding may occur with trauma namespace: medical_genetics xref: UMLS:C0019080 xref: UMLS:C0043251 xref: UMLS:C0175677 xref: UMLS:C0332183 xref: UMLS:C1510467 xref: UMLS:C1709305 is_a: HP:0001934 ! Persistent bleeding after trauma [Term] id: HP:0007464 name: Sparse axillary and facial hair namespace: medical_genetics xref: UMLS:C0004454 xref: UMLS:C0221980 xref: UMLS:C0239496 is_a: HP:0002215 ! Sparse axillary hair [Term] id: HP:0007465 name: Honeycomb palmoplantar keratoderma namespace: medical_genetics xref: UMLS:C1866032 is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007466 name: Midfrontal capillary hemangioma namespace: medical_genetics xref: UMLS:C1859339 is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007467 name: Blistering, generalized namespace: medical_genetics xref: UMLS:C0005758 xref: UMLS:C0205246 is_a: HP:0008066 ! Abnormal blistering of the skin [Term] id: HP:0007468 name: Perifollicular hyperkeratosis namespace: medical_genetics xref: UMLS:C0870082 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007469 name: Cutis gyrata of palms and soles namespace: medical_genetics xref: UMLS:C0230463 xref: UMLS:C0682477 xref: UMLS:C1852412 is_a: HP:0007477 ! Abnormal dermatoglyphics [Term] id: HP:0007470 name: periarticular subcutaneous nodules namespace: medical_genetics xref: UMLS:C0151811 xref: UMLS:C0595695 is_a: HP:0001482 ! subcutaneous nodules [Term] id: HP:0007471 name: Axillary and groin hyperpigmentation and hypopigmentation namespace: medical_genetics xref: UMLS:C0004454 xref: UMLS:C0018246 xref: UMLS:C0162834 xref: UMLS:C0162835 xref: UMLS:C0816951 xref: UMLS:C1876214 xref: UMLS:C1962962 xref: UMLS:C1963139 is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007472 name: Generalized bruising tendency namespace: medical_genetics xref: UMLS:C0009938 xref: UMLS:C0205246 xref: UMLS:C1998911 xref: UMLS:C2136686 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0007473 name: Crusting erythematous dermatitis namespace: medical_genetics xref: UMLS:C0011603 xref: UMLS:C0205204 xref: UMLS:C0241083 xref: UMLS:C0332476 xref: UMLS:C0392749 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0007475 name: Epidermolytic hyperkeratosis namespace: medical_genetics xref: UMLS:C0079153 xref: UMLS:C0343110 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007476 name: Anhidrotic ectodermal dysplasia namespace: medical_genetics xref: UMLS:C0162359 xref: UMLS:C0406702 xref: UMLS:C1706004 is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007477 name: Abnormal dermatoglyphics namespace: medical_genetics alt_id: HP:0007422 def: "An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles." [HPO:curators] synonym: "Dermatoglyphic abnormalities" EXACT [] xref: UMLS:C0011624 xref: UMLS:C0205161 xref: UMLS:C0432333 xref: UMLS:C2347472 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0007478 name: Ichthyosis, congenital namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0020757 xref: UMLS:C0020758 xref: UMLS:C1744681 is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007479 name: Congenital nonbullous ichthyosiform erythroderma namespace: medical_genetics alt_id: HP:0007625 synonym: "Nonbullous congenital ichthyosiform erythroderma" EXACT [] xref: UMLS:C0079154 is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007480 name: Decreased sweating due to autonomic dysfunction namespace: medical_genetics xref: UMLS:C0038990 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0741307 is_a: HP:0000966 ! Hypohidrosis [Term] id: HP:0007481 name: Hyperpigmented nevi namespace: medical_genetics xref: UMLS:C0746889 is_a: HP:0000995 ! Pigmented nevi [Term] id: HP:0007482 name: Papillary lesions, generalized namespace: medical_genetics xref: UMLS:C0205246 xref: UMLS:C0205312 xref: UMLS:C0221198 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0007483 name: Depigmentation/hyperpigmentation of skin namespace: medical_genetics xref: UMLS:C0162834 xref: UMLS:C0162835 xref: UMLS:C1962962 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007484 name: Congenital ichthyosis namespace: medical_genetics xref: UMLS:C0020758 xref: UMLS:C0079154 is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007485 name: Absence of subcutaneous fat namespace: medical_genetics synonym: "General absence of subcutaneous fat" EXACT [] xref: UMLS:C0205246 xref: UMLS:C0222331 xref: UMLS:C1553889 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0007486 name: Cavernous hemangiomas, face namespace: medical_genetics xref: UMLS:C0015450 xref: UMLS:C0018920 xref: UMLS:C1281591 is_a: HP:0001048 ! Cavernous hemangioma [Term] id: HP:0007488 name: Diffuse skin atrophy namespace: medical_genetics xref: UMLS:C0151514 xref: UMLS:C0205219 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1265896 xref: UMLS:C1278993 xref: UMLS:C1963069 is_a: HP:0004334 ! Dermal atrophy [Term] id: HP:0007489 name: Diffuse telangiectasia namespace: medical_genetics 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:C0034656 xref: UMLS:C0039446 xref: UMLS:C0439605 xref: UMLS:C0460148 xref: UMLS:C0520511 xref: UMLS:C1265776 xref: UMLS:C1268086 xref: UMLS:C1551342 xref: UMLS:C1704711 is_a: HP:0001009 ! Telangiectasia [Term] id: HP:0007490 name: Linear arrays of macular hyperkeratoses in flexural areas namespace: medical_genetics xref: UMLS:C0205132 xref: UMLS:C0332574 xref: UMLS:C0439748 xref: UMLS:C0870082 xref: UMLS:C1504310 xref: UMLS:C1510941 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007491 name: Hyperpigmented spots on hands , legs, and lips namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0023759 xref: UMLS:C0333615 xref: UMLS:C0848332 xref: UMLS:C1140621 is_a: HP:0001034 ! Hyperpigmented macules [Term] id: HP:0007492 name: Hyperpigmented skin patches namespace: medical_genetics xref: UMLS:C0333615 xref: UMLS:C0444099 xref: UMLS:C0994894 xref: UMLS:C1123023 xref: UMLS:C1278993 is_a: HP:0000953 ! Hyperpigmentation of the skin is_a: HP:0200033 ! patches [Term] id: HP:0007493 name: Mild skin hyperextensibility namespace: medical_genetics xref: UMLS:C1849044 is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0007494 name: Discrete 2 to 5-mm hyper- and hypopigmented macules namespace: medical_genetics xref: UMLS:C0424295 xref: UMLS:C2047793 is_a: HP:0007441 ! Hyperpigmented/hypopigmented macules [Term] id: HP:0007495 name: Prematurely aged appearance namespace: medical_genetics alt_id: HP:0001599 synonym: "Precociously senile appearance" EXACT [] xref: UMLS:C0001779 xref: UMLS:C0205252 xref: UMLS:C0233426 xref: UMLS:C0700364 xref: UMLS:C1857656 is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0007496 name: Blisters esp on palms, soles, perioral, trunk and neck namespace: medical_genetics xref: UMLS:C0005758 xref: UMLS:C0015373 xref: UMLS:C0027530 xref: UMLS:C0037747 xref: UMLS:C0230463 xref: UMLS:C0457008 xref: UMLS:C0460005 xref: UMLS:C0682477 xref: UMLS:C1280632 xref: UMLS:C1281592 xref: UMLS:C1421982 is_a: HP:0008066 ! Abnormal blistering of the skin [Term] id: HP:0007497 name: Hyperkeratosis, palmoplantar, focal friction-related namespace: medical_genetics xref: UMLS:C0162691 xref: UMLS:C0205234 xref: UMLS:C0439849 xref: UMLS:C0445223 xref: UMLS:C0870082 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007498 name: Flexural acanthosis nigricans namespace: medical_genetics xref: UMLS:C0000889 xref: UMLS:C0439748 is_a: HP:0000956 ! Acanthosis nigricans [Term] id: HP:0007499 name: Recurrent staphylococcal infections namespace: medical_genetics xref: UMLS:C0034897 xref: UMLS:C0038160 xref: UMLS:C0038170 xref: UMLS:C0239998 is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0007500 name: Decreased number of sweat glands namespace: medical_genetics alt_id: HP:0007555 alt_id: HP:0007594 def: "The presence of `fewer` (PATO:0001999) than normal `sweat glands` (FMA:59152)." [HPO:probinson] synonym: "Decreased sweat glands" EXACT [] synonym: "Decreased sweat pores" EXACT [] xref: UMLS:C0038989 xref: UMLS:C0205216 xref: UMLS:C0221956 xref: UMLS:C0237753 xref: UMLS:C0392756 xref: UMLS:C0449788 is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0007501 name: Streaks of hyperkeratosis along each finger onto the palm namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0230373 xref: UMLS:C0817662 xref: UMLS:C0851278 xref: UMLS:C0870082 xref: UMLS:C1281584 xref: UMLS:C1418262 xref: UMLS:C2348542 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007502 name: Follicular hyperkeratosis namespace: medical_genetics xref: UMLS:C0334013 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007503 name: Generalized ichthyosis namespace: medical_genetics xref: UMLS:C0020757 xref: UMLS:C0020758 xref: UMLS:C0205246 is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007504 name: Diffuse slow skin atrophy namespace: medical_genetics xref: UMLS:C0151514 xref: UMLS:C0205219 xref: UMLS:C0439834 xref: UMLS:C1963069 is_a: HP:0007488 ! Diffuse skin atrophy [Term] id: HP:0007505 name: Familial progressive hyperpigmentation namespace: medical_genetics xref: UMLS:C1840392 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007506 name: Congenital absence of skin of limbs namespace: medical_genetics xref: UMLS:C0015385 xref: UMLS:C0332907 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 is_a: HP:0007383 ! Congenital localized absence of skin [Term] id: HP:0007508 name: Punctate palmar and solar hyperkeratosis namespace: medical_genetics xref: UMLS:C0022602 xref: UMLS:C0205330 xref: UMLS:C1184147 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007509 name: Patchy hypo- and hyperpigmentation namespace: medical_genetics alt_id: HP:0007487 synonym: "Patchy hypo- and hyper-pigmentation" EXACT [] xref: UMLS:C0031911 xref: UMLS:C0162834 xref: UMLS:C0205413 xref: UMLS:C0333912 xref: UMLS:C0424295 xref: UMLS:C1962962 is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin is_a: HP:0200033 ! patches [Term] id: HP:0007510 name: Focal dermal aplasia/hypoplasia namespace: medical_genetics xref: UMLS:C0205234 xref: UMLS:C0221928 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007511 name: Mottled pigmentation of photoexposed areas namespace: medical_genetics xref: UMLS:C0860439 xref: UMLS:C1504310 is_a: HP:0001070 ! Mottled pigmentation [Term] id: HP:0007512 name: Congenital non-bullous ichthyosis namespace: medical_genetics xref: UMLS:C0020758 xref: UMLS:C0079154 xref: UMLS:C0439649 is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007513 name: Generalized hypopigmentation namespace: medical_genetics xref: UMLS:C0162835 xref: UMLS:C0205246 xref: UMLS:C1876214 xref: UMLS:C1963139 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007514 name: Edema of the dorsum of hands and feet namespace: medical_genetics alt_id: HP:0007528 def: "An abnormal accumulation of fluid beneath the skin on the back of the hands and feet." [HPO:curators] synonym: "Edema of dorsum of hands and feet" EXACT [] xref: UMLS:C0004600 xref: UMLS:C0013604 xref: UMLS:C0016504 xref: UMLS:C0018563 xref: UMLS:C0347981 is_a: HP:0000969 ! Edema [Term] id: HP:0007515 name: Hypoplastic pilosebaceous units namespace: medical_genetics xref: UMLS:C1832454 is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007516 name: Loose, redundant skin on fingers namespace: medical_genetics xref: UMLS:C0010495 xref: UMLS:C0016129 xref: UMLS:C0205407 xref: UMLS:C0425087 xref: UMLS:C0549188 xref: UMLS:C0581342 xref: UMLS:C1313915 is_a: HP:0001582 ! Loose, redundant skin [Term] id: HP:0007517 name: Cutis laxa, hands and feet namespace: medical_genetics xref: UMLS:C0010495 xref: UMLS:C0016504 xref: UMLS:C0018563 xref: UMLS:C0347981 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0007518 name: Benign acanthosis nigricans namespace: medical_genetics xref: UMLS:C0343059 is_a: HP:0000956 ! Acanthosis nigricans [Term] id: HP:0007519 name: Lack of subcutaneous fatty tissue namespace: medical_genetics xref: UMLS:C0222331 xref: UMLS:C0332268 is_a: HP:0001002 ! Decreased subcutaneous fat [Term] id: HP:0007521 name: Irregular hyperpigmentation of back namespace: medical_genetics xref: UMLS:C1860236 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007522 name: Increased number of skin folds namespace: medical_genetics xref: UMLS:C0205217 xref: UMLS:C0237753 xref: UMLS:C0442805 xref: UMLS:C0449788 xref: UMLS:C1446851 is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0007524 name: Atypical neurofibromatosis namespace: medical_genetics xref: UMLS:C0220695 is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0007525 name: Yellow subcutaneous tissue covered by thin, scaly skin namespace: medical_genetics xref: UMLS:C0205168 xref: UMLS:C0221205 xref: UMLS:C0222331 xref: UMLS:C0278403 xref: UMLS:C0423773 xref: UMLS:C0439844 xref: UMLS:C1999244 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0007526 name: Hypopigmented skin patches on arms namespace: medical_genetics xref: UMLS:C0162835 xref: UMLS:C0446516 xref: UMLS:C0994894 is_a: HP:0001053 ! Hypopigmented skin patches [Term] id: HP:0007529 name: Hidrotic ectodermal dysplasia namespace: medical_genetics xref: UMLS:C0162361 is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007530 name: Punctate palmoplantar hyperkeratosis namespace: medical_genetics xref: UMLS:C0205330 xref: UMLS:C1857046 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007533 name: Severe atopic dermatitis namespace: medical_genetics xref: UMLS:C1861874 is_a: HP:0001047 ! Atopic dermatitis [Term] id: HP:0007534 name: Congenital posterior occipital alopecia namespace: medical_genetics xref: UMLS:C0205095 xref: UMLS:C0265992 xref: UMLS:C1184145 is_a: HP:0001596 ! Alopecia [Term] id: HP:0007535 name: Hypopigmented streaks namespace: medical_genetics xref: UMLS:C1866244 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007536 name: Aplasia cutis congenita of midline scalp vertex namespace: medical_genetics xref: UMLS:C0036270 xref: UMLS:C0230003 xref: UMLS:C0282160 xref: UMLS:C0549183 xref: UMLS:C1278997 xref: UMLS:C1660780 xref: UMLS:C2240381 is_a: HP:0004471 ! Aplasia cutis congenita over the scalp vertex [Term] id: HP:0007537 name: Severe photosensitivity namespace: medical_genetics def: "A severe degree of photosensitivity of the skin." [HPO:curators] xref: UMLS:C1849186 is_a: HP:0000992 ! Photosensitivity [Term] id: HP:0007540 name: Hyperpigmentation, marked generalized namespace: medical_genetics xref: UMLS:C0162834 xref: UMLS:C0205246 xref: UMLS:C0522501 xref: UMLS:C1706089 xref: UMLS:C1962962 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007541 name: Frontal cutaneous lipoma namespace: medical_genetics xref: UMLS:C1850970 is_a: HP:0001012 ! Lipomas is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0007542 name: Absent pigmentation of ventral chest, abdomen and limbs namespace: medical_genetics xref: UMLS:C0000726 xref: UMLS:C0015385 xref: UMLS:C0031911 xref: UMLS:C0230168 xref: UMLS:C0332197 xref: UMLS:C0817096 xref: UMLS:C1281594 xref: UMLS:C1456858 xref: UMLS:C1527391 xref: UMLS:C1704448 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007543 name: Epidermal hyperkeratosis namespace: medical_genetics xref: UMLS:C1848773 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007544 name: Piebald pigmentary variegation namespace: medical_genetics xref: UMLS:C0031916 xref: UMLS:C0080024 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007545 name: Congenital palmoplantar keratosis namespace: medical_genetics xref: UMLS:C1855633 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007546 name: Linear or reticular hyperpigmentation namespace: medical_genetics xref: UMLS:C0205132 xref: UMLS:C1851972 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007547 name: Hypertrophic ichthyosis, esp scalp, ears, neck and flexures namespace: medical_genetics xref: UMLS:C0013443 xref: UMLS:C0015373 xref: UMLS:C0020564 xref: UMLS:C0020757 xref: UMLS:C0020758 xref: UMLS:C0027530 xref: UMLS:C0036270 xref: UMLS:C0037747 xref: UMLS:C0333959 xref: UMLS:C0521421 xref: UMLS:C1278997 xref: UMLS:C1281592 xref: UMLS:C1414437 xref: UMLS:C1421982 xref: UMLS:C1880791 xref: UMLS:C2240381 is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007548 name: Palmoplantar keratosis with erythema and scale namespace: medical_genetics xref: UMLS:C0022596 xref: UMLS:C0041834 xref: UMLS:C0175659 xref: UMLS:C0222045 xref: UMLS:C0349674 xref: UMLS:C0392757 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007549 name: Desquamation of skin soon after birth namespace: medical_genetics xref: UMLS:C0005615 xref: UMLS:C0237849 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C1550722 is_a: HP:0000951 ! Abnormality of the skin [Term] id: HP:0007550 name: Hypohidrosis/hyperhidrosis namespace: medical_genetics xref: UMLS:C0020458 xref: UMLS:C0020620 is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0007552 name: Abnormal subcutaneous fat tissue distribution namespace: medical_genetics xref: UMLS:C1859347 is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0007553 name: Congenital symmetrical palmoplantar keratosis namespace: medical_genetics xref: UMLS:C1855459 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007554 name: Confetti hypopigmentation pattern of lower leg skin namespace: medical_genetics xref: UMLS:C0162835 xref: UMLS:C0222279 xref: UMLS:C0441994 xref: UMLS:C0444099 xref: UMLS:C0449774 xref: UMLS:C1123023 xref: UMLS:C1140621 xref: UMLS:C1278993 xref: UMLS:C1876214 xref: UMLS:C1963139 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007556 name: Plantar hyperkeratosis namespace: medical_genetics alt_id: HP:0007382 def: "`Hyperkeratosis` (HP:0000962) affecting the sole of the foot." [HPO:probinson] synonym: "Plantar hyperkeratoses" EXACT [] xref: UMLS:C1856954 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007558 name: Toenails mildly to moderately dystrophic or atrophic namespace: medical_genetics xref: UMLS:C0151514 xref: UMLS:C0222007 xref: UMLS:C0333607 xref: UMLS:C0333641 xref: UMLS:C1299392 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0007559 name: Localized epidermolytic hyperkeratosis namespace: medical_genetics xref: UMLS:C0022584 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007560 name: Unusual dermatoglyphics namespace: medical_genetics xref: UMLS:C0011624 is_a: HP:0005882 ! Dermatoglyphic variants [Term] id: HP:0007561 name: Telangiectases in sun-exposed and nonexposed skin namespace: medical_genetics xref: UMLS:C0038817 xref: UMLS:C0039446 xref: UMLS:C0332157 xref: UMLS:C0376223 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 is_a: HP:0100585 ! Teleangiectasia of the skin [Term] id: HP:0007562 name: Dysseborrheic dermatitis namespace: medical_genetics xref: UMLS:C1848851 is_a: HP:0001051 ! Seborrheic dermatitis [Term] id: HP:0007564 name: Atopic dermatitis, chronic namespace: medical_genetics xref: UMLS:C0011615 xref: UMLS:C0205191 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0001047 ! Atopic dermatitis [Term] id: HP:0007565 name: Multiple cafe-au-lait spots namespace: medical_genetics xref: UMLS:C1861975 is_a: HP:0000957 ! Cafe-au-lait spots [Term] id: HP:0007566 name: Index finger dermatoglyphic radial loop namespace: medical_genetics xref: UMLS:C0011624 xref: UMLS:C0230388 xref: UMLS:C0442038 xref: UMLS:C0445022 xref: UMLS:C0920847 is_a: HP:0005882 ! Dermatoglyphic variants [Term] id: HP:0007567 name: Thin, atrophic scars namespace: medical_genetics xref: UMLS:C0162154 xref: UMLS:C0205168 is_a: HP:0001075 ! Atrophic scars [Term] id: HP:0007569 name: Generalized seborrheic dermatitis namespace: medical_genetics xref: UMLS:C0036508 xref: UMLS:C0205246 is_a: HP:0001051 ! Seborrheic dermatitis [Term] id: HP:0007570 name: Hyperkeratosis lenticularis perstans namespace: medical_genetics xref: UMLS:C0263420 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007571 name: Hypohidrosis may be present namespace: medical_genetics xref: UMLS:C0020620 xref: UMLS:C0150312 xref: UMLS:C0449450 is_a: HP:0000966 ! Hypohidrosis [Term] id: HP:0007572 name: Hyperpigmented streaks namespace: medical_genetics xref: UMLS:C1866245 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007573 name: Late onset atopic dermatitis namespace: medical_genetics xref: UMLS:C0011615 xref: UMLS:C0205087 xref: UMLS:C0332162 is_a: HP:0001047 ! Atopic dermatitis [Term] id: HP:0007574 name: Generalized bronze hyperpigmentation namespace: medical_genetics xref: UMLS:C0162834 xref: UMLS:C0205246 xref: UMLS:C1269778 xref: UMLS:C1962962 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007576 name: Palmar neurofibromas namespace: medical_genetics xref: UMLS:C0027830 xref: UMLS:C1184147 is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0007578 name: Mildly extensible skin namespace: medical_genetics xref: UMLS:C1844691 is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0007580 name: Xeroderma pigmentosum complementation group E, subtype 2 namespace: medical_genetics xref: UMLS:C0009498 xref: UMLS:C0268139 xref: UMLS:C0449560 is_a: HP:0007415 ! Xeroderma pigmentosum [Term] id: HP:0007581 name: Mediosternal, longitudinal streak of hypopigmentation namespace: medical_genetics xref: UMLS:C0162835 xref: UMLS:C0205127 xref: UMLS:C1876214 xref: UMLS:C1963139 xref: UMLS:C2348542 is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007583 name: Telangiectasia macularis eruptiva perstans namespace: medical_genetics xref: UMLS:C0263402 is_a: HP:0001009 ! Telangiectasia [Term] id: HP:0007584 name: Mottled or stippled pigmentation namespace: medical_genetics xref: UMLS:C0031911 xref: UMLS:C0302133 xref: UMLS:C1979978 is_a: HP:0001070 ! Mottled pigmentation [Term] id: HP:0007585 name: Skin fragility with non-scarring blistering namespace: medical_genetics xref: UMLS:C0005758 xref: UMLS:C0008767 xref: UMLS:C0549419 xref: UMLS:C1412877 xref: UMLS:C1518422 xref: UMLS:C2004491 is_a: HP:0001030 ! Fragile skin [Term] id: HP:0007586 name: Telangiectases producing 'marbled' skin namespace: medical_genetics xref: UMLS:C0033268 xref: UMLS:C0039446 xref: UMLS:C1096731 xref: UMLS:C1709696 is_a: HP:0100585 ! Teleangiectasia of the skin [Term] id: HP:0007587 name: Numerous pigmented freckles namespace: medical_genetics xref: UMLS:C1968565 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007588 name: Reticular hyperpigmentation namespace: medical_genetics alt_id: HP:0007579 synonym: "Reticulate hyperpigmentation" EXACT [] xref: UMLS:C1851972 is_a: HP:0000953 ! Hyperpigmentation of the skin [Term] id: HP:0007589 name: Aplasia cutis congenita on trunk or limbs namespace: medical_genetics 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. xref: UMLS:C0015385 xref: UMLS:C0282160 xref: UMLS:C0460005 xref: UMLS:C1280632 is_a: HP:0001057 ! Aplasia cutis congenita [Term] id: HP:0007590 name: Aplasia cutis congenita over posterior parietal area namespace: medical_genetics xref: UMLS:C0017446 xref: UMLS:C0205095 xref: UMLS:C0205146 xref: UMLS:C0282160 xref: UMLS:C0442030 is_a: HP:0004476 ! Aplasia cutis congenita over parietal area [Term] id: HP:0007591 name: Acanthosis nigricans in patients with diabetes namespace: medical_genetics xref: UMLS:C0000889 xref: UMLS:C0011847 xref: UMLS:C0011849 xref: UMLS:C0011860 xref: UMLS:C0030705 is_a: HP:0000956 ! Acanthosis nigricans [Term] id: HP:0007592 name: Hypoplastic-absent eccrine sweat glands namespace: medical_genetics xref: UMLS:C1844618 is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0007595 name: Redundant skin in infancy namespace: medical_genetics xref: UMLS:C0231330 xref: UMLS:C0581342 is_a: HP:0001582 ! Loose, redundant skin [Term] id: HP:0007596 name: Painful trunk and limb subcutaneous lipomas namespace: medical_genetics xref: UMLS:C0015385 xref: UMLS:C0030193 xref: UMLS:C0460005 xref: UMLS:C1280090 xref: UMLS:C1280632 xref: UMLS:C1403035 is_a: HP:0001031 ! Subcutaneous lipoma [Term] id: HP:0007597 name: Congenital palmoplantar keratodermia namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0022579 xref: UMLS:C1744681 is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007598 name: Bilateral single palmar creases namespace: medical_genetics xref: UMLS:C1856138 is_a: HP:0000954 ! Transverse palmar creases [Term] id: HP:0007599 name: Generalized reticulate brown pigmentation in males namespace: medical_genetics xref: UMLS:C0024554 xref: UMLS:C0031911 xref: UMLS:C0035295 xref: UMLS:C0086582 xref: UMLS:C0155339 xref: UMLS:C0205246 xref: UMLS:C0439739 xref: UMLS:C0678579 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007600 name: Hyperkeratosis follicularis namespace: medical_genetics xref: UMLS:C0870082 is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007601 name: Midline facial capillary hemangioma namespace: medical_genetics xref: UMLS:C1840310 is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007602 name: Complex palmar dermatoglyphic pattern namespace: medical_genetics xref: UMLS:C0439855 xref: UMLS:C1184147 xref: UMLS:C1282059 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0007603 name: Freckles in sun-exposed areas namespace: medical_genetics xref: UMLS:C0016689 xref: UMLS:C0038817 xref: UMLS:C0332157 xref: UMLS:C0376223 xref: UMLS:C1504310 xref: UMLS:C2239200 is_a: HP:0005586 ! Hyperpigmentation in sun-exposed areas [Term] id: HP:0007605 name: Excessive wrinkling of palmar skin namespace: medical_genetics alt_id: HP:0007531 synonym: "Redundant, wrinkled skin of palms" EXACT [] xref: UMLS:C0037301 xref: UMLS:C0425087 xref: UMLS:C0442802 xref: UMLS:C0448882 xref: UMLS:C0682477 xref: UMLS:C1313915 xref: UMLS:C1705106 xref: UMLS:C1883564 is_a: HP:0007392 ! Excessive wrinkled skin [Term] id: HP:0007606 name: Multiple cutaneous malignancies namespace: medical_genetics xref: UMLS:C0221912 xref: UMLS:C0346429 xref: UMLS:C1522447 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0007607 name: Hypohidrotic ectodermal dysplasia namespace: medical_genetics xref: UMLS:C0162359 is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007608 name: Abnormal palmar dermal ridges namespace: medical_genetics xref: UMLS:C0205161 xref: UMLS:C0687006 xref: UMLS:C1184147 xref: UMLS:C1282641 xref: UMLS:C2347472 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0007609 name: Hypoproteinemic edema namespace: medical_genetics 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] xref: UMLS:C0013604 xref: UMLS:C0020639 is_a: HP:0000969 ! Edema [Term] id: HP:0007610 name: Blotching pigmentation of the skin namespace: medical_genetics xref: UMLS:C0031911 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007613 name: Spinous keratoses of palms and soles namespace: medical_genetics xref: UMLS:C0022593 xref: UMLS:C0230463 xref: UMLS:C0682477 is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007615 name: Mild variable ectodermal dysplasia namespace: medical_genetics xref: UMLS:C0013574 xref: UMLS:C0013575 xref: UMLS:C0334046 xref: UMLS:C0439828 xref: UMLS:C0521458 xref: UMLS:C0547040 xref: UMLS:C1334415 xref: UMLS:C1705098 is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007616 name: Nevus flammeus nuchae namespace: medical_genetics def: "`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." [HPO:sdoelken] xref: UMLS:C0235752 xref: UMLS:C0581758 is_a: HP:0001052 ! Nevus flammeus [Term] id: HP:0007617 name: Fine, reticulate skin pigmentation namespace: medical_genetics xref: UMLS:C0035295 xref: UMLS:C0037290 xref: UMLS:C0205232 xref: UMLS:C0439739 xref: UMLS:C0687757 xref: UMLS:C1269684 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007618 name: Subcutaneous calcification namespace: medical_genetics xref: UMLS:C0263625 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0007619 name: Ichthyosis, congenital, nonblistering namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0020757 xref: UMLS:C0020758 xref: UMLS:C1744681 is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007620 name: Cutaneous leiomyoma namespace: medical_genetics alt_id: HP:0007507 def: "The presence of `leiomyoma` (MPATH:425) of the `skin` (FMA:7163)." [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 is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0007621 name: Telangiectasia of extensor surfaces namespace: medical_genetics xref: UMLS:C0039446 xref: UMLS:C0743665 xref: UMLS:C1963248 is_a: HP:0100585 ! Teleangiectasia of the skin [Term] id: HP:0007622 name: Mild localized pigmentation abnormalities namespace: medical_genetics xref: UMLS:C1844614 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007623 name: Pigmentation anomalies of sun-exposed skin namespace: medical_genetics xref: UMLS:C0000769 xref: UMLS:C0031911 xref: UMLS:C0038817 xref: UMLS:C0332157 xref: UMLS:C0376223 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007624 name: Hyperhidrosis of palms and soles namespace: medical_genetics xref: UMLS:C0020458 xref: UMLS:C0230463 xref: UMLS:C0682477 is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0007626 name: Mandibular osteomyelitis namespace: medical_genetics alt_id: HP:0005869 synonym: "Osteomyelitis, especially of the mandible" EXACT [] xref: UMLS:C0024687 xref: UMLS:C0029443 xref: UMLS:C1279059 xref: UMLS:C1290708 xref: UMLS:C2239125 is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0007627 name: Mandibular condyle aplasia namespace: medical_genetics xref: UMLS:C0399570 is_a: HP:0005790 ! Short mandibular condyles [Term] id: HP:0007628 name: Mandibular condyle hypoplasia namespace: medical_genetics xref: UMLS:C0399572 is_a: HP:0005790 ! Short mandibular condyles [Term] id: HP:0007633 name: Bilateral microphthalmos namespace: medical_genetics alt_id: HP:0001585 def: "A developmental anomaly characterized by abnormal smallness of both eyes." [HPO:curators] synonym: "Microphthalmia, bilateral" EXACT [] xref: UMLS:C0026010 xref: UMLS:C0238767 is_a: HP:0000568 ! Microphthalmos [Term] id: HP:0007634 name: Nonarteritic anterior ischemic optic neuropathy namespace: medical_genetics xref: UMLS:C1852242 is_a: HP:0001138 ! Optic neuropathy [Term] id: HP:0007635 name: Retinitis pigmentosa, severe namespace: medical_genetics xref: UMLS:C0035334 xref: UMLS:C0205082 xref: UMLS:C1519275 is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0007636 name: Decreased or absent electroretinogram namespace: medical_genetics xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C1969818 is_a: HP:0000654 ! Decreased electroretinogram (ERG) [Term] id: HP:0007637 name: Isolated ectopia lentis namespace: medical_genetics xref: UMLS:C1851286 is_a: HP:0001083 ! Ectopia lentis [Term] id: HP:0007638 name: Slowly progressive macular dystrophy namespace: medical_genetics xref: UMLS:C0339508 xref: UMLS:C0730292 xref: UMLS:C1864719 is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007640 name: Lifelong reduced visual acuity, legal blindness to low vision namespace: medical_genetics xref: UMLS:C0042798 xref: UMLS:C0234632 xref: UMLS:C0271215 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007641 name: Secondary dyschromatopsia namespace: medical_genetics xref: UMLS:C0175668 xref: UMLS:C0205436 xref: UMLS:C0858618 xref: UMLS:C1522484 is_a: HP:0000551 ! Abnormal color vision [Term] id: HP:0007642 name: Congenital stationary night blindness namespace: medical_genetics xref: UMLS:C0339535 is_a: HP:0000662 ! Night blindness [Term] id: HP:0007643 name: Peripheral traction retinal detachment namespace: medical_genetics xref: UMLS:C0154828 xref: UMLS:C0205100 is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007644 name: Retinal 'bone corpuscle' pigmentation namespace: medical_genetics xref: UMLS:C0151892 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1880182 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007645 name: Retinitis pigmentosa type I namespace: medical_genetics xref: UMLS:C0035334 xref: UMLS:C0441729 is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0007646 name: Absent lower eyelashes namespace: medical_genetics xref: UMLS:C0441994 xref: UMLS:C1843005 is_a: HP:0000561 ! Absent eyelashes [Term] id: HP:0007647 name: Congenital extraocular muscle anomaly namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0028863 xref: UMLS:C1268995 is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0007648 name: Punctate cataract namespace: medical_genetics def: "A type of cataract with punctate opacities of the `lens` (FMA:58241)." [HPO:probinson] synonym: "Punctate lenticular opacities" RELATED [] xref: UMLS:C1969675 is_a: HP:0010920 ! Zonular cataract [Term] id: HP:0007649 name: Congenital hypertrophy of retinal pigment epithelium namespace: medical_genetics xref: UMLS:C0035322 xref: UMLS:C0332887 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007650 name: Progressive ophthalmoplegia namespace: medical_genetics xref: UMLS:C2062713 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007651 name: Mildly everted lower eyelids namespace: medical_genetics xref: UMLS:C0015211 xref: UMLS:C0229258 xref: UMLS:C0547040 xref: UMLS:C0750532 is_a: HP:0000656 ! Ectropion [Term] id: HP:0007652 name: Subacute deterioration of visual acuity namespace: medical_genetics xref: UMLS:C0042812 xref: UMLS:C0205365 xref: UMLS:C0868945 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007653 name: Difficulties with night vision namespace: medical_genetics xref: UMLS:C1299586 xref: UMLS:C2350309 is_a: HP:0000662 ! Night blindness [Term] id: HP:0007654 name: Retinal striation namespace: medical_genetics xref: UMLS:C1849150 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007655 name: Eversion of lateral third of lower eyelids namespace: medical_genetics xref: UMLS:C0015211 xref: UMLS:C0205093 xref: UMLS:C0205437 xref: UMLS:C0229258 is_a: HP:0000656 ! Ectropion [Term] id: HP:0007656 name: Lacrimal gland aplasia/hypoplasia namespace: medical_genetics xref: UMLS:C0022907 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1278886 xref: UMLS:C2174415 is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands [Term] id: HP:0007657 name: Cataract, nuclear diffuse nonprogressive namespace: medical_genetics xref: UMLS:C0086543 xref: UMLS:C0205219 xref: UMLS:C0521447 xref: UMLS:C1864820 is_a: HP:0100018 ! Nuclear cataract [Term] id: HP:0007658 name: Large hyperpigmented retinal spots namespace: medical_genetics xref: UMLS:C0035298 xref: UMLS:C0035331 xref: UMLS:C0549177 xref: UMLS:C1848716 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007659 name: Decreased retinal pigmentation with dispersion namespace: medical_genetics xref: UMLS:C0332624 xref: UMLS:C1860160 is_a: HP:0007703 ! Abnormal retinal pigmentation [Term] id: HP:0007660 name: Increased corneal diameter namespace: medical_genetics xref: UMLS:C1167712 is_a: HP:0001120 ! Abnormality of corneal size or shape [Term] id: HP:0007661 name: Chorioretinal hypopigmentation and hyperpigmentation namespace: medical_genetics xref: UMLS:C0162834 xref: UMLS:C0162835 xref: UMLS:C1876214 xref: UMLS:C1962962 xref: UMLS:C1963139 is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0007662 name: Corneal parenchymal opacities namespace: medical_genetics xref: UMLS:C0010038 xref: UMLS:C0933845 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0007663 name: Decreased central vision namespace: medical_genetics xref: UMLS:C0042798 xref: UMLS:C0205099 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0558171 xref: UMLS:C0678899 xref: UMLS:C1879652 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007664 name: Clinical anophthalmia, unilateral/bilateral namespace: medical_genetics xref: UMLS:C0205092 xref: UMLS:C0238767 xref: UMLS:C1855428 is_a: HP:0001485 ! Anophthalmia, clinical [Term] id: HP:0007665 name: Curly eyelashes namespace: medical_genetics def: "Abnormally curly or curved eyelashes." [HPO:curators] xref: UMLS:C0015422 xref: UMLS:C0887883 is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0007667 name: Cystic retinal degeneration namespace: medical_genetics xref: UMLS:C1839362 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007668 name: Impaired pursuit initiation and maintenance namespace: medical_genetics xref: UMLS:C0024501 xref: UMLS:C0221099 xref: UMLS:C0589507 xref: UMLS:C0684336 xref: UMLS:C1158830 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0007669 name: Bilateral nasolacrimal duct obstruction namespace: medical_genetics xref: UMLS:C0022906 xref: UMLS:C0238767 is_a: HP:0000579 ! Nasolacrimal duct obstruction [Term] id: HP:0007670 name: Abnormal vestibuloocular reflex namespace: medical_genetics xref: UMLS:C0034933 is_a: HP:0004454 ! abnormal middle ear reflexes [Term] id: HP:0007672 name: Congenital nuclear cataract in males namespace: medical_genetics xref: UMLS:C0024554 xref: UMLS:C0086582 xref: UMLS:C0158551 is_a: HP:0008024 ! Congenital nuclear cataract [Term] id: HP:0007673 name: Cystic macular degeneration namespace: medical_genetics xref: UMLS:C0010709 xref: UMLS:C0024437 xref: UMLS:C0205207 xref: UMLS:C0332574 xref: UMLS:C0333435 is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0007675 name: Progressive night blindness namespace: medical_genetics xref: UMLS:C0028077 xref: UMLS:C0205329 is_a: HP:0000662 ! Night blindness [Term] id: HP:0007676 name: Hypoplasia of the iris namespace: medical_genetics alt_id: HP:0000638 alt_id: HP:0007998 synonym: "Hypoplastic iris" EXACT [] synonym: "Iris hypoplasia" EXACT [] xref: UMLS:C0022077 xref: UMLS:C0243069 xref: UMLS:C0344539 xref: UMLS:C0543481 xref: UMLS:C1278891 is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris [Term] id: HP:0007677 name: Vitelliform macular dystrophy namespace: medical_genetics xref: UMLS:C0339510 is_a: HP:0007754 ! Macular dystrophy [Term] id: HP:0007678 name: Nasolacrimal duct stenosis namespace: medical_genetics xref: UMLS:C0238300 is_a: HP:0000579 ! Nasolacrimal duct obstruction [Term] id: HP:0007680 name: Depigmented fundus namespace: medical_genetics xref: UMLS:C0016823 xref: UMLS:C0017129 xref: UMLS:C0227254 xref: UMLS:C0227817 xref: UMLS:C0333614 xref: UMLS:C0740422 is_a: HP:0001487 ! Hypopigmented fundi [Term] id: HP:0007681 name: High-arched, dense eyebrows namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0205250 xref: UMLS:C0439794 xref: UMLS:C0741204 xref: UMLS:C1299351 xref: UMLS:C1538146 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0001584 ! Highly arched eyebrows [Term] id: HP:0007682 name: Ophthalmoplegia, nonprogressive restrictive, bilateral or unilateral namespace: medical_genetics xref: UMLS:C0029089 xref: UMLS:C0205092 xref: UMLS:C0238767 xref: UMLS:C0443288 xref: UMLS:C1864820 xref: UMLS:C2003852 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007683 name: Fundus with peripheral 'bony spicules' namespace: medical_genetics xref: UMLS:C0016823 xref: UMLS:C0017129 xref: UMLS:C0205100 xref: UMLS:C0227254 xref: UMLS:C0227817 xref: UMLS:C0443157 xref: UMLS:C0740422 is_a: HP:0007823 ! Bone corpuscle fundus pigmentation [Term] id: HP:0007684 name: Congenital night blindness namespace: medical_genetics xref: UMLS:C1306122 is_a: HP:0000662 ! Night blindness [Term] id: HP:0007685 name: Peripheral retinal avascularization namespace: medical_genetics xref: UMLS:C1851406 is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007686 name: Abnormal pupillary function namespace: medical_genetics xref: UMLS:C0917967 is_a: HP:0000615 ! Abnormality of the pupil [Term] id: HP:0007687 name: Ptosis, unilateral namespace: medical_genetics xref: UMLS:C0005745 xref: UMLS:C0033377 xref: UMLS:C0205092 is_a: HP:0000508 ! Ptosis [Term] id: HP:0007688 name: Absent rod-and cone-mediated responses on ERG namespace: medical_genetics xref: UMLS:C0206427 xref: UMLS:C0206428 xref: UMLS:C0330095 xref: UMLS:C0332197 xref: UMLS:C0870868 xref: UMLS:C1551083 xref: UMLS:C1552915 xref: UMLS:C1704638 xref: UMLS:C1705186 xref: UMLS:C1947942 xref: UMLS:C2347970 xref: UMLS:C2347971 xref: UMLS:C2350017 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0007689 name: Reduced or abolished electroretinogram namespace: medical_genetics xref: UMLS:C0013867 xref: UMLS:C0392756 is_a: HP:0000654 ! Decreased electroretinogram (ERG) [Term] id: HP:0007690 name: Map-dot-fingerprint corneal dystrophy namespace: medical_genetics xref: UMLS:C0271285 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007691 name: Short curly eyelashes namespace: medical_genetics xref: UMLS:C0015422 xref: UMLS:C0887883 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0007692 name: Nonnuclear polymorphic congenital cataract namespace: medical_genetics xref: UMLS:C1832526 is_a: HP:0000519 ! Congenital cataract [Term] id: HP:0007693 name: Gradual progressive loss of central visual acuity namespace: medical_genetics xref: UMLS:C0042812 xref: UMLS:C0205099 xref: UMLS:C1517945 xref: UMLS:C1854645 xref: UMLS:C1879652 is_a: HP:0007663 ! Decreased central vision [Term] id: HP:0007694 name: Pigmented macular degeneration namespace: medical_genetics xref: UMLS:C1849131 is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0007695 name: Abnormal pupillary light reflexes namespace: medical_genetics 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:curators] xref: UMLS:C1970591 is_a: HP:0000615 ! Abnormality of the pupil [Term] id: HP:0007696 name: Anterior segment mesencyhmal dysgenesis namespace: medical_genetics def: "Dysgenesis of multiple structures of the anterior segment of the eye. These structures are mainly of mesenchymal origin." [HPO:probinson, HPO:vkumar, pmid:12015278] 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 segment ocular dysgenesis" EXACT [] xref: UMLS:C1862839 is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0007697 name: Hypoplastic lower eyelids namespace: medical_genetics xref: UMLS:C0229258 xref: UMLS:C0543481 is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0007698 name: Retinal pigment epithelial atrophy namespace: medical_genetics xref: UMLS:C0014595 xref: UMLS:C0035323 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007699 name: Anterior chamber malformation namespace: medical_genetics xref: UMLS:C1856042 is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0007700 name: Anterior chamber cleavage disorder namespace: medical_genetics synonym: "Anterior chamber cleavage defect" EXACT [] xref: UMLS:C0003151 xref: UMLS:C0596311 xref: UMLS:C1330957 xref: UMLS:C1457869 xref: UMLS:C1849946 xref: UMLS:C1861101 xref: UMLS:C2069970 is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0007702 name: Pigmentary retinal deposits namespace: medical_genetics xref: UMLS:C0031916 xref: UMLS:C0235972 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007703 name: Abnormal retinal pigmentation namespace: medical_genetics xref: UMLS:C1862475 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007704 name: Abnormal eye movements, paroxysmal namespace: medical_genetics xref: UMLS:C0205311 xref: UMLS:C0497202 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007705 name: Corneal degeneration namespace: medical_genetics xref: UMLS:C0155118 is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0007707 name: Congenital primary aphakia namespace: medical_genetics def: "A developmental defect resulting in congenital absence of the crystalline lens." [HPO:curators] xref: UMLS:C1853230 xref: UMLS:C1853233 is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens [Term] id: HP:0007708 name: Absent inner eyelashes namespace: medical_genetics xref: UMLS:C0205102 xref: UMLS:C1843005 is_a: HP:0000561 ! Absent eyelashes [Term] id: HP:0007709 name: Band-shaped corneal dystrophy namespace: medical_genetics xref: UMLS:C0155120 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007710 name: Peripheral vitreous opacities namespace: medical_genetics xref: UMLS:C0152006 xref: UMLS:C0205100 is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0007711 name: Slightly prominent eyes namespace: medical_genetics xref: UMLS:C0750482 xref: UMLS:C1837760 is_a: HP:0000536 ! Prominent eyes [Term] id: HP:0007712 name: Choroidal dystrophy namespace: medical_genetics xref: UMLS:C0730291 is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0007713 name: Juvenile zonular cataracts namespace: medical_genetics xref: UMLS:C1849324 is_a: HP:0001118 ! Juvenile cataract [Term] id: HP:0007714 name: Small, downslanting palpebral fissures namespace: medical_genetics xref: UMLS:C0700321 xref: UMLS:C2077312 is_a: HP:0000494 ! Downward slanting palpebral fissures is_a: HP:0000581 ! Blepharophimosis [Term] id: HP:0007715 name: Weak extraocular muscles namespace: medical_genetics xref: UMLS:C1859436 is_a: HP:0001324 ! Muscle weakness is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0007716 name: Malignant intraocular melanoma namespace: medical_genetics 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] synonym: "Uveal melanoma" EXACT [] xref: UMLS:C0025202 xref: UMLS:C0151779 xref: UMLS:C0205282 xref: UMLS:C0220633 xref: UMLS:C0694753 is_a: HP:0000478 ! Abnormality of the eye is_a: HP:0002861 ! Malignant melanoma [Term] id: HP:0007717 name: Chronic irritative conjunctivitis namespace: medical_genetics 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 is_a: HP:0000509 ! Conjunctivitis [Term] id: HP:0007718 name: 'key-hole' iris, retina, choroid coloboma namespace: medical_genetics xref: UMLS:C0022077 xref: UMLS:C0035298 xref: UMLS:C0239054 xref: UMLS:C0544726 xref: UMLS:C1278891 xref: UMLS:C1278894 xref: UMLS:C1823381 xref: UMLS:C1881060 is_a: HP:0000611 ! Choroid coloboma [Term] id: HP:0007720 name: Congenital cornea plana namespace: medical_genetics 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:curators] synonym: "Cornea plana congenita" EXACT [] xref: UMLS:C0009678 xref: UMLS:C0344529 xref: UMLS:C1744681 is_a: HP:0100691 ! Abnormality of the curvature of the cornea [Term] id: HP:0007721 name: Saccular conjunctival aneurysms namespace: medical_genetics xref: UMLS:C0005136 xref: UMLS:C0009758 xref: UMLS:C1522483 is_a: HP:0008054 ! Abnormality of the vasculature of the conjunctiva [Term] id: HP:0007722 name: Loss of retinal pigment epithelium namespace: medical_genetics xref: UMLS:C0035322 xref: UMLS:C1517945 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007723 name: Blurred vision, episodic namespace: medical_genetics xref: UMLS:C0344232 xref: UMLS:C1455761 is_a: HP:0000622 ! Blurred vision [Term] id: HP:0007724 name: Iris atrophy/hypoplasia namespace: medical_genetics xref: UMLS:C0243069 xref: UMLS:C0423319 xref: UMLS:C0543481 is_a: HP:0001089 ! Iris atrophy [Term] id: HP:0007725 name: Mild night blindness namespace: medical_genetics xref: UMLS:C0028077 xref: UMLS:C0547040 is_a: HP:0000662 ! Night blindness [Term] id: HP:0007727 name: Superficial corneal opacities namespace: medical_genetics xref: UMLS:C1849198 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0007728 name: Congenital miosis namespace: medical_genetics xref: UMLS:C1303009 is_a: HP:0000616 ! Miosis [Term] id: HP:0007729 name: Imperforate nasolacrimal ducts namespace: medical_genetics xref: UMLS:C0027437 is_a: HP:0000564 ! Lacrimal duct atresia [Term] id: HP:0007730 name: Reduced iris pigmentation namespace: medical_genetics def: "An abnormal reduction in the amount of pigmentation of the `iris` (FMA:58235)." [HPO:probinson] xref: UMLS:C1859179 is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0007731 name: Chorioretinal dysplasia namespace: medical_genetics xref: UMLS:C1835268 is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0007732 name: Hypoplastic lacrimal gland namespace: medical_genetics xref: UMLS:C1863200 is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands [Term] id: HP:0007733 name: Laterally curved eyebrows namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0205093 xref: UMLS:C0205134 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0007734 name: Enlarged lacrimal glands namespace: medical_genetics xref: UMLS:C1867030 is_a: HP:0000521 ! Abnormality of tear glands or tear production [Term] id: HP:0007735 name: Relatively rapid loss of visual acuity namespace: medical_genetics xref: UMLS:C0042812 xref: UMLS:C0080103 xref: UMLS:C0205345 xref: UMLS:C0439831 xref: UMLS:C1517945 xref: UMLS:C1547039 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007736 name: Pericentral retinal dystrophy namespace: medical_genetics xref: UMLS:C0854723 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007737 name: Bony spicule pigmentary retinopathy namespace: medical_genetics xref: UMLS:C0035334 xref: UMLS:C0443157 is_a: HP:0000580 ! Pigmentary retinopathy [Term] id: HP:0007738 name: Uncontrolled eye movements namespace: medical_genetics xref: UMLS:C1854686 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007739 name: Mildly reduced visual acuity namespace: medical_genetics xref: UMLS:C0042812 xref: UMLS:C0392756 xref: UMLS:C0547040 xref: UMLS:C0750532 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007740 name: Long eyelashes in irregular rows namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C0854699 xref: UMLS:C1552840 xref: UMLS:C1853738 is_a: HP:0000527 ! Long eyelashes [Term] id: HP:0007741 name: Peripheral retinal pigmentation abnormalities namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0031911 xref: UMLS:C0035300 xref: UMLS:C0151892 xref: UMLS:C0205100 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007744 name: Coloboma of iris and retina namespace: medical_genetics xref: UMLS:C0009363 xref: UMLS:C0022077 xref: UMLS:C0035298 xref: UMLS:C1278891 xref: UMLS:C1278894 is_a: HP:0000612 ! Iris coloboma [Term] id: HP:0007745 name: Ocular albinism, tyrosinase-positive namespace: medical_genetics xref: UMLS:C0012524 xref: UMLS:C0041484 xref: UMLS:C0078917 xref: UMLS:C0439178 xref: UMLS:C1421250 xref: UMLS:C1446409 xref: UMLS:C1514241 is_a: HP:0001107 ! Ocular albinism [Term] id: HP:0007746 name: Retinal hypopigmentation namespace: medical_genetics xref: UMLS:C1855777 is_a: HP:0001111 ! Retinal depigmentation [Term] id: HP:0007747 name: Monocular horizontal nystagmus namespace: medical_genetics xref: UMLS:C0205126 xref: UMLS:C0271385 xref: UMLS:C0344242 is_a: HP:0000666 ! Nystagmus, horizontal [Term] id: HP:0007748 name: Coloboma of iris, choroid and retina namespace: medical_genetics xref: UMLS:C0008520 xref: UMLS:C0009363 xref: UMLS:C0022077 xref: UMLS:C0035298 xref: UMLS:C1278891 xref: UMLS:C1278894 xref: UMLS:C1305287 is_a: HP:0000612 ! Iris coloboma [Term] id: HP:0007750 name: Foveal hypoplasia namespace: medical_genetics xref: UMLS:C1969726 is_a: HP:0008060 ! Aplasia/Hypoplasia of the fovea [Term] id: HP:0007751 name: Optic-nerve degeneration namespace: medical_genetics xref: UMLS:C0011164 xref: UMLS:C0015392 xref: UMLS:C0027740 xref: UMLS:C0027746 xref: UMLS:C0029130 xref: UMLS:C0281923 xref: UMLS:C1268985 xref: UMLS:C1280541 xref: UMLS:C1880269 is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0007752 name: Decreased retinal pigmentation namespace: medical_genetics xref: UMLS:C1860160 is_a: HP:0001111 ! Retinal depigmentation [Term] id: HP:0007754 name: Macular dystrophy namespace: medical_genetics xref: UMLS:C0339508 xref: UMLS:C0730292 is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007755 name: Juvenile epithelial corneal dystrophy namespace: medical_genetics xref: UMLS:C0339277 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007756 name: Slitlike anterior chamber angles in children namespace: medical_genetics xref: UMLS:C0003151 xref: UMLS:C0008059 xref: UMLS:C0205143 xref: UMLS:C0680063 xref: UMLS:C2069970 is_a: HP:0000594 ! Shallow anterior chamber [Term] id: HP:0007757 name: Hypoplasia of choroid namespace: medical_genetics def: "Underdevelopment of the `choroid` (FMA:58298)." [HPO:probinson] xref: UMLS:C0008520 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1305287 is_a: HP:0001122 ! Aplasia/Hypoplasia of the choroid [Term] id: HP:0007758 name: Congenital visual impairment namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0042798 xref: UMLS:C0234621 xref: UMLS:C0332866 xref: UMLS:C1744681 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007759 name: Corneal opacities, not impairing visual acuity namespace: medical_genetics xref: UMLS:C0010038 xref: UMLS:C0234632 xref: UMLS:C1518422 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0007760 name: Crystalline corneal dystrophy namespace: medical_genetics xref: UMLS:C0271287 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007761 name: Pericentral scotomas namespace: medical_genetics xref: UMLS:C1321308 is_a: HP:0000603 ! Central scotoma [Term] id: HP:0007762 name: Ophthalmoplegia predominantly affects upward and lateral gaze namespace: medical_genetics xref: UMLS:C0001721 xref: UMLS:C0029089 xref: UMLS:C0205093 xref: UMLS:C0332251 xref: UMLS:C0553544 xref: UMLS:C1282911 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007763 name: Retinal telangiectasia namespace: medical_genetics xref: UMLS:C0154835 is_a: HP:0001009 ! Telangiectasia is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007764 name: Defective or absent horizontal voluntary eye movements namespace: medical_genetics xref: UMLS:C0015413 xref: UMLS:C0205126 xref: UMLS:C0332197 xref: UMLS:C0332452 xref: UMLS:C0439656 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007765 name: Deep anterior chamber namespace: medical_genetics xref: UMLS:C0003151 xref: UMLS:C0205125 xref: UMLS:C2069970 is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0007766 name: Hypoplastic optic disks namespace: medical_genetics alt_id: HP:0007794 synonym: "Optic disc hypoplasia" EXACT [] xref: UMLS:C1298695 xref: UMLS:C1836048 is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve [Term] id: HP:0007768 name: Central retinal vessel vascular tortuosity namespace: medical_genetics xref: UMLS:C0205099 xref: UMLS:C1558950 xref: UMLS:C1801960 xref: UMLS:C1879652 xref: UMLS:C2187268 is_a: HP:0000631 ! Retinal arterial tortuosity [Term] id: HP:0007769 name: Peripheral retinal degeneration namespace: medical_genetics xref: UMLS:C1320640 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007770 name: Retinal hypoplasia namespace: medical_genetics xref: UMLS:C1854685 is_a: HP:0008061 ! Aplasia/Hypoplasia affecting the retina [Term] id: HP:0007771 name: Fibrous dysplasia of the cornea namespace: medical_genetics xref: UMLS:C0010031 xref: UMLS:C0259779 xref: UMLS:C1278889 is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0007772 name: Impaired smooth pursuit namespace: medical_genetics xref: UMLS:C1837458 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0007773 name: Vitreoretinal abnormalities namespace: medical_genetics xref: UMLS:C1850109 is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0007774 name: Hypoplasia of the ciliary body namespace: medical_genetics xref: UMLS:C0008779 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1280649 is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea [Term] id: HP:0007775 name: Nonprogressive corneal dystrophy namespace: medical_genetics xref: UMLS:C0010036 xref: UMLS:C1864820 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007776 name: Partial absence of lower eyelashes namespace: medical_genetics xref: UMLS:C0015422 xref: UMLS:C0441994 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0002284 ! Sparse to absent eyelashes [Term] id: HP:0007777 name: Chorioretinal scars namespace: medical_genetics xref: UMLS:C2004491 is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0007778 name: Neovascularization of peripheral and posterior retina namespace: medical_genetics xref: UMLS:C0027686 xref: UMLS:C0205100 xref: UMLS:C0229092 is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007779 name: Anterior segment of eye aplasia namespace: medical_genetics xref: UMLS:C0015392 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0348014 xref: UMLS:C1280202 is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye [Term] id: HP:0007780 name: Cataracts, cortical pulverulent namespace: medical_genetics xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0086543 is_a: HP:0010693 ! Pulverulent Cataract [Term] id: HP:0007782 name: Peripheral retinal cone degeneration namespace: medical_genetics xref: UMLS:C1836948 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007783 name: Butterfly retinal pigment epithelial dystrophy namespace: medical_genetics xref: UMLS:C0006496 xref: UMLS:C0221908 xref: UMLS:C0311338 xref: UMLS:C1455717 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007784 name: Colobomas of optic disk, choroid, ciliary body, and iris namespace: medical_genetics xref: UMLS:C0008520 xref: UMLS:C0008779 xref: UMLS:C0009363 xref: UMLS:C0022077 xref: UMLS:C0029127 xref: UMLS:C0558827 xref: UMLS:C1278891 xref: UMLS:C1280649 xref: UMLS:C1305287 is_a: HP:0000611 ! Choroid coloboma [Term] id: HP:0007785 name: Partial-total absence of lower eyelashes namespace: medical_genetics xref: UMLS:C0015422 xref: UMLS:C0439175 xref: UMLS:C0439810 xref: UMLS:C0441994 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0002284 ! Sparse to absent eyelashes [Term] id: HP:0007786 name: Lacunar retinal depigmentation namespace: medical_genetics xref: UMLS:C0151891 xref: UMLS:C0241970 xref: UMLS:C1459585 is_a: HP:0001111 ! Retinal depigmentation [Term] id: HP:0007787 name: Posterior subcapsular cataract namespace: medical_genetics alt_id: HP:0007666 alt_id: HP:0007857 def: "A type of cataract affecting the `posterior pole of lens` (FMA:58898) immediately adjacent to ('beneath') the `Lens capsule` (FMA:58881)." [HPO:probinson] synonym: "Posterior subcapsular opacities of the lens" EXACT [] xref: UMLS:C0023317 xref: UMLS:C0023318 xref: UMLS:C0205095 xref: UMLS:C0858617 xref: UMLS:C0996842 xref: UMLS:C1278892 xref: UMLS:C1509844 xref: UMLS:C1866179 xref: UMLS:C2239142 is_a: HP:0000523 ! Subcapsular cataract [Term] id: HP:0007789 name: Progressive cone dystrophy namespace: medical_genetics xref: UMLS:C0339530 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007790 name: Retinal degeneration, progressive namespace: medical_genetics xref: UMLS:C0035304 xref: UMLS:C0205329 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007791 name: Patchy atrophy of the retinal pigment epithelium namespace: medical_genetics xref: UMLS:C0035322 xref: UMLS:C0205413 xref: UMLS:C0333641 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007792 name: Microsaccadic pursuit namespace: medical_genetics xref: UMLS:C1843892 is_a: HP:0000530 ! Saccadic slow pursuit [Term] id: HP:0007793 name: Bilateral macular retinal pigment epithelial mottling namespace: medical_genetics xref: UMLS:C1842624 is_a: HP:0008002 ! Macular pigmentary changes [Term] id: HP:0007795 name: Anterior cortical cataract namespace: medical_genetics def: "A `cataract` (HP:0000518) that affects the anterior part of the `cortex of the lens` (FMA:58970)." [HPO:probinson] xref: UMLS:C1857308 is_a: HP:0100019 ! Cortical cataract [Term] id: HP:0007796 name: Underorbital skin creases namespace: medical_genetics xref: UMLS:C1857280 is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0007797 name: Retinal vascular malformations namespace: medical_genetics xref: UMLS:C1861791 is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007798 name: Bilateral foveal dystrophy namespace: medical_genetics xref: UMLS:C0016622 xref: UMLS:C0238767 xref: UMLS:C0333606 xref: UMLS:C0450290 is_a: HP:0000493 ! Abnormality of the fovea [Term] id: HP:0007799 name: Conjunctival whitish 'salt-like' deposits namespace: medical_genetics def: "The presence of whitish deposits in the conjunctiva resembling salt. May be related to calcinosis." [HPO:curators] xref: UMLS:C0009758 xref: UMLS:C0036140 xref: UMLS:C0037494 xref: UMLS:C0206136 xref: UMLS:C0333562 xref: UMLS:C0870814 xref: UMLS:C1522483 is_a: HP:0000502 ! Abnormality of the conjunctiva [Term] id: HP:0007800 name: Increased axial globe length namespace: medical_genetics xref: UMLS:C1835117 is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0007801 name: Fishnet retinal pigmentation namespace: medical_genetics xref: UMLS:C0151892 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007802 name: Granular corneal dystrophy namespace: medical_genetics 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 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007803 name: Congenital complete achromatopsia namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C1744681 xref: UMLS:C1857589 is_a: HP:0000551 ! Abnormal color vision [Term] id: HP:0007804 name: Heavy arched eyebrows namespace: medical_genetics xref: UMLS:C0741204 xref: UMLS:C1538146 xref: UMLS:C1855409 is_a: HP:0002553 ! Arched eyebrows [Term] id: HP:0007805 name: Striking peripheral retinal degeneration namespace: medical_genetics xref: UMLS:C1320640 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007806 name: Sarcoid-associated optic neuropathy namespace: medical_genetics xref: UMLS:C0015392 xref: UMLS:C0029132 xref: UMLS:C0036202 xref: UMLS:C0332281 xref: UMLS:C0338547 is_a: HP:0001138 ! Optic neuropathy [Term] id: HP:0007807 name: Optic nerve compression namespace: medical_genetics xref: UMLS:C0271344 is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0001293 ! Cranial nerve compression [Term] id: HP:0007808 name: Bilateral retinal coloboma namespace: medical_genetics xref: UMLS:C0238767 xref: UMLS:C0240896 is_a: HP:0000480 ! Retinal coloboma [Term] id: HP:0007809 name: Punctate corneal dystrophy namespace: medical_genetics xref: UMLS:C0010036 xref: UMLS:C0205330 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007810 name: Progressive bifocal chorioretinal atrophy namespace: medical_genetics xref: UMLS:C1833321 is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007811 name: Horizontal pendular nystagmus namespace: medical_genetics def: "Nystagmus consisting of horizontal to-and-fro eye movements of equal velocity." [HPO:curators] xref: UMLS:C1866180 is_a: HP:0000666 ! Nystagmus, horizontal [Term] id: HP:0007812 name: Herpetiform corneal ulcers namespace: medical_genetics 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:curators] xref: UMLS:C0010043 xref: UMLS:C0019340 is_a: HP:0000495 ! Recurrent corneal erosions [Term] id: HP:0007813 name: Nongranulomatous uveitis namespace: medical_genetics xref: UMLS:C0042164 xref: UMLS:C1963266 is_a: HP:0000554 ! Uveitis [Term] id: HP:0007814 name: Salt and pepper retinopathy, early namespace: medical_genetics xref: UMLS:C0035309 xref: UMLS:C0036140 xref: UMLS:C0037494 xref: UMLS:C0206136 xref: UMLS:C0453397 xref: UMLS:C1123063 xref: UMLS:C1279919 xref: UMLS:C1962966 is_a: HP:0001124 ! Salt and pepper retinal pigmentation [Term] id: HP:0007815 name: Abnormal distribution of retinal arterioles and venules namespace: medical_genetics xref: UMLS:C0042520 xref: UMLS:C0332619 xref: UMLS:C0580762 is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007817 name: Supranuclear gaze palsy, horizontal namespace: medical_genetics xref: UMLS:C0205126 xref: UMLS:C1720037 is_a: HP:0000605 ! Supranuclear gaze palsy [Term] id: HP:0007818 name: Ring iris heterochromia namespace: medical_genetics xref: UMLS:C0022077 xref: UMLS:C0423318 xref: UMLS:C0521164 xref: UMLS:C1260969 xref: UMLS:C1278891 xref: UMLS:C1705184 xref: UMLS:C1882953 xref: UMLS:C1882954 is_a: HP:0001100 ! Heterochromia iridis [Term] id: HP:0007819 name: Presenile cataracts namespace: medical_genetics 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 is_a: HP:0000518 ! Cataract [Term] id: HP:0007820 name: Atretic lacrimal puncta namespace: medical_genetics xref: UMLS:C1863201 is_a: HP:0001092 ! Absent lacrimal puncta [Term] id: HP:0007821 name: Retinal pigment clumping namespace: medical_genetics xref: UMLS:C0035323 xref: UMLS:C1880112 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007822 name: Central retinal exudate namespace: medical_genetics xref: UMLS:C0205099 xref: UMLS:C0240897 xref: UMLS:C1879652 is_a: HP:0001147 ! Retinal exudates [Term] id: HP:0007823 name: Bone corpuscle fundus pigmentation namespace: medical_genetics xref: UMLS:C0016823 xref: UMLS:C0017129 xref: UMLS:C0031911 xref: UMLS:C0227254 xref: UMLS:C0227817 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0740422 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1880182 is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0007824 name: Total ophthalmoplegia namespace: medical_genetics xref: UMLS:C0155338 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007825 name: Cataracts develop in second or third decade namespace: medical_genetics xref: UMLS:C0086543 xref: UMLS:C0205436 xref: UMLS:C0205437 xref: UMLS:C0457385 xref: UMLS:C0565930 xref: UMLS:C1561503 xref: UMLS:C1705190 xref: UMLS:C1999145 xref: UMLS:C2348168 is_obsolete: true [Term] id: HP:0007826 name: Atypical retinitis pigmentosa namespace: medical_genetics xref: UMLS:C0035334 xref: UMLS:C0205182 xref: UMLS:C0741302 is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0007827 name: Nodular corneal dystrophy namespace: medical_genetics xref: UMLS:C0010036 xref: UMLS:C0205297 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007829 name: Diffuse retinal cone degeneration namespace: medical_genetics xref: UMLS:C0205219 xref: UMLS:C1867326 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007830 name: Night blindness beginning in the 6th decade namespace: medical_genetics xref: UMLS:C0028077 xref: UMLS:C0439659 is_a: HP:0000662 ! Night blindness [Term] id: HP:0007831 name: Nonprogressive restrictive ophthalmoplegia namespace: medical_genetics xref: UMLS:C1864820 xref: UMLS:C1865918 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007832 name: Pigmentation of the sclera namespace: medical_genetics xref: UMLS:C0031911 xref: UMLS:C0036410 xref: UMLS:C1278890 xref: UMLS:C2228481 is_a: HP:0000591 ! Abnormality of the sclera [Term] id: HP:0007833 name: Anterior chamber synechiae namespace: medical_genetics xref: UMLS:C0003151 xref: UMLS:C0152252 xref: UMLS:C0154933 xref: UMLS:C0935616 xref: UMLS:C2069970 is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0007834 name: Progressive cataract namespace: medical_genetics alt_id: HP:0007828 def: "A kind of `cataract` that progresses with age." [HPO:probinson] synonym: "Cataract, progressive" EXACT [] xref: UMLS:C0086543 xref: UMLS:C0205329 is_a: HP:0000518 ! Cataract [Term] id: HP:0007835 name: S-shaped palpebral fissures namespace: medical_genetics xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C2077312 is_a: HP:0200005 ! Abnormal shape of the palpebral fissures [Term] id: HP:0007836 name: Mosaic corneal dystrophy namespace: medical_genetics xref: UMLS:C0010036 xref: UMLS:C0439750 xref: UMLS:C0700058 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007837 name: Ocular albinism, females as affected as males namespace: medical_genetics xref: UMLS:C0015780 xref: UMLS:C0024554 xref: UMLS:C0078917 xref: UMLS:C0086287 xref: UMLS:C0086582 xref: UMLS:C0392760 xref: UMLS:C1314939 is_a: HP:0001107 ! Ocular albinism [Term] id: HP:0007838 name: Ptosis, progressive namespace: medical_genetics xref: UMLS:C0005745 xref: UMLS:C0033377 xref: UMLS:C0205329 is_a: HP:0000508 ! Ptosis [Term] id: HP:0007839 name: Blindness in infancy or very early childhood namespace: medical_genetics xref: UMLS:C0231330 xref: UMLS:C0442824 xref: UMLS:C0456909 xref: UMLS:C0599196 is_a: HP:0000618 ! Blindness [Term] id: HP:0007840 name: Long, curly dark upper eyelashes namespace: medical_genetics xref: UMLS:C0332582 xref: UMLS:C1282910 xref: UMLS:C1855286 is_a: HP:0000500 ! Long, curly eyelashes [Term] id: HP:0007841 name: Amyloid deposition in the vitreous humor namespace: medical_genetics xref: UMLS:C0011560 xref: UMLS:C0229096 xref: UMLS:C1305933 xref: UMLS:C1705760 is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0007843 name: Attenuation of retinal blood vessels namespace: medical_genetics xref: UMLS:C0035330 xref: UMLS:C0599946 is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007844 name: Anterior corneal lens opacities namespace: medical_genetics xref: UMLS:C1835567 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0007845 name: Flattened or absent electroretinogram namespace: medical_genetics xref: UMLS:C0016203 xref: UMLS:C1969818 is_a: HP:0000654 ! Decreased electroretinogram (ERG) [Term] id: HP:0007846 name: Restrictive ophthalmoplegia namespace: medical_genetics xref: UMLS:C1865918 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007849 name: Congenital retinal non-attachment namespace: medical_genetics xref: UMLS:C0035298 xref: UMLS:C0035331 xref: UMLS:C0332951 is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007850 name: Retinal vascular proliferation namespace: medical_genetics xref: UMLS:C0035320 is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007851 name: Temporal displacement of maculae namespace: medical_genetics xref: UMLS:C0012725 xref: UMLS:C0012727 xref: UMLS:C0332573 xref: UMLS:C0442043 xref: UMLS:C0456080 xref: UMLS:C2347509 xref: UMLS:C2362314 is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007852 name: Pericentral pigmentary retinopathy namespace: medical_genetics xref: UMLS:C0035334 is_a: HP:0000580 ! Pigmentary retinopathy [Term] id: HP:0007853 name: Scant eyelashes namespace: medical_genetics synonym: "Scanty eyelashes" EXACT [] xref: UMLS:C0015422 xref: UMLS:C0443295 xref: UMLS:C1835682 is_a: HP:0004555 ! absent or scanty eyelashes and eyebrows [Term] id: HP:0007854 name: Glaucomatous visual field defects namespace: medical_genetics xref: UMLS:C1299694 is_a: HP:0001123 ! Visual field defects [Term] id: HP:0007855 name: Optic atrophy, congenital namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0029124 xref: UMLS:C1744681 is_a: HP:0000648 ! Optic atrophy [Term] id: HP:0007856 name: Fine punctate corneal opacities namespace: medical_genetics xref: UMLS:C0010038 xref: UMLS:C0439697 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0007858 name: Chorioretinal lacunae namespace: medical_genetics xref: UMLS:C1844751 is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0007859 name: Congenital horizontal nystagmus namespace: medical_genetics def: "Horizontal nystagmus dating from or present at birth." [HPO:curators] xref: UMLS:C0009678 xref: UMLS:C0205126 xref: UMLS:C0271385 xref: UMLS:C0700501 xref: UMLS:C1744681 is_a: HP:0000666 ! Nystagmus, horizontal is_a: HP:0006934 ! Congenital nystagmus [Term] id: HP:0007860 name: Subnormal visual acuity namespace: medical_genetics xref: UMLS:C0042812 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007861 name: Autosomal dominant congenital stationary night blindness namespace: medical_genetics xref: UMLS:C0339535 xref: UMLS:C0443147 is_a: HP:0000662 ! Night blindness [Term] id: HP:0007862 name: Retinal calcification namespace: medical_genetics xref: UMLS:C1867289 is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0007863 name: Retinal lesions namespace: medical_genetics def: "Retinal lesions can occure 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 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007864 name: Congenital retinal detachment namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0035305 xref: UMLS:C1744681 xref: UMLS:C1963229 is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007865 name: Night blindness and abnormal fundus namespace: medical_genetics xref: UMLS:C0016823 xref: UMLS:C0017129 xref: UMLS:C0028077 xref: UMLS:C0205161 xref: UMLS:C0227254 xref: UMLS:C0227817 xref: UMLS:C0740422 xref: UMLS:C2347472 is_a: HP:0000662 ! Night blindness is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0007866 name: Focal retinal infarction namespace: medical_genetics xref: UMLS:C0205234 xref: UMLS:C0281967 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007867 name: Restrictive partial ophthalmoplegia namespace: medical_genetics xref: UMLS:C1836265 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007868 name: Senile macular degeneration namespace: medical_genetics xref: UMLS:C0242383 is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0007869 name: Peripheral retinopathy namespace: medical_genetics xref: UMLS:C1857401 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007870 name: Prominent globes namespace: medical_genetics xref: UMLS:C1862425 is_a: HP:0001090 ! Large eyes [Term] id: HP:0007872 name: Choroidal hemangiomata namespace: medical_genetics xref: UMLS:C0346390 is_a: HP:0000610 ! Abnormality of the choroid is_a: HP:0001028 ! Hemangiomas [Term] id: HP:0007873 name: Abnormally prominent line of Schwalbe namespace: medical_genetics alt_id: HP:0007940 synonym: "Prominent Schwalbe lines" EXACT [] xref: UMLS:C0205132 xref: UMLS:C0205161 xref: UMLS:C0205402 xref: UMLS:C1550648 xref: UMLS:C1552960 xref: UMLS:C1835199 xref: UMLS:C2347472 is_a: HP:0008048 ! Abnormality of the line of Schwalbe [Term] id: HP:0007874 name: Almond-shaped palpebral fissures namespace: medical_genetics xref: UMLS:C0332479 xref: UMLS:C0440286 xref: UMLS:C0522512 xref: UMLS:C2077312 xref: UMLS:C2348427 is_a: HP:0200005 ! Abnormal shape of the palpebral fissures [Term] id: HP:0007875 name: Congenital blindness namespace: medical_genetics alt_id: HP:0007706 synonym: "Congenital amaurosis" EXACT [] xref: UMLS:C0005754 xref: UMLS:C1969147 is_a: HP:0000618 ! Blindness [Term] id: HP:0007876 name: Juvenile cortical cataract namespace: medical_genetics xref: UMLS:C1863409 is_a: HP:0001118 ! Juvenile cataract [Term] id: HP:0007878 name: Atypical vitelliform macular dystrophy namespace: medical_genetics xref: UMLS:C1421456 xref: UMLS:C1835178 is_a: HP:0007677 ! Vitelliform macular dystrophy [Term] id: HP:0007879 name: Allergic conjunctivitis namespace: medical_genetics def: "Allergic Conjunctivitis is an allergic inflammation of the conjunctiva, the thin membrane that covers the inner eyelid and external surface of the eye." [HPO:curators] xref: UMLS:C0009766 is_a: HP:0000509 ! Conjunctivitis is_a: HP:0100326 ! Immunologic hypersensitivity [Term] id: HP:0007880 name: Marginal corneal dystrophy namespace: medical_genetics xref: UMLS:C0010036 xref: UMLS:C0205284 xref: UMLS:C1550517 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007881 name: Central corneal dystrophy namespace: medical_genetics xref: UMLS:C0010036 xref: UMLS:C0205099 xref: UMLS:C1879652 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007882 name: Congenital lens dislocation namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0009701 xref: UMLS:C0023309 xref: UMLS:C0023317 xref: UMLS:C0023318 xref: UMLS:C0996842 xref: UMLS:C1278892 xref: UMLS:C1509844 xref: UMLS:C1744681 xref: UMLS:C2239142 is_a: HP:0000665 ! Lens dislocation [Term] id: HP:0007883 name: White corneal opacification namespace: medical_genetics xref: UMLS:C0007457 xref: UMLS:C0010031 xref: UMLS:C0043157 xref: UMLS:C0220938 xref: UMLS:C0449584 xref: UMLS:C1882150 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0007884 name: Choroidal vessel sclerosis namespace: medical_genetics xref: UMLS:C0005847 xref: UMLS:C0344297 is_a: HP:0001150 ! Choroidal sclerosis [Term] id: HP:0007885 name: Slowed horizontal saccades namespace: medical_genetics xref: UMLS:C1856477 is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0007886 name: Absent ocular muscles namespace: medical_genetics xref: UMLS:C1408781 is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0007888 name: Bilateral chorioretinopathy namespace: medical_genetics xref: UMLS:C1844750 is_a: HP:0001145 ! Chorioretinopathy [Term] id: HP:0007889 name: Iridescent posterior subcapsular cataract namespace: medical_genetics def: "A type of `posterior subcapsular cataract` (HP:0007787) characterized by an iridescent color." [HPO:probinson, pmid:7826272] synonym: "Cataracts, posterior, subcapsular, iridescent" EXACT [] xref: UMLS:C0086543 xref: UMLS:C0205095 xref: UMLS:C0205152 is_a: HP:0007787 ! Posterior subcapsular cataract [Term] id: HP:0007890 name: Hypoplastic optic discs with double margin namespace: medical_genetics xref: UMLS:C0205173 xref: UMLS:C0205284 xref: UMLS:C0229985 xref: UMLS:C1269830 xref: UMLS:C1705764 xref: UMLS:C1705765 xref: UMLS:C1836048 is_a: HP:0007766 ! Hypoplastic optic disks [Term] id: HP:0007891 name: Prominent ocular inflammation namespace: medical_genetics xref: UMLS:C0021368 xref: UMLS:C0205402 xref: UMLS:C1299003 is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0007892 name: Aplastic/hypoplastic lacrimal puncta namespace: medical_genetics xref: UMLS:C0229288 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1280650 is_a: HP:0001092 ! Absent lacrimal puncta [Term] id: HP:0007893 name: Progressive retinal degeneration namespace: medical_genetics xref: UMLS:C1854888 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007894 name: Hypopigmentation of the fundus namespace: medical_genetics xref: UMLS:C0016823 xref: UMLS:C0017129 xref: UMLS:C0162835 xref: UMLS:C0227254 xref: UMLS:C0227817 xref: UMLS:C0740422 xref: UMLS:C1876214 xref: UMLS:C1963139 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007896 name: Corneal opacities on slit-lamp exam namespace: medical_genetics xref: UMLS:C0010038 xref: UMLS:C0183355 xref: UMLS:C0582103 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0007898 name: Exudative retinopathy namespace: medical_genetics xref: UMLS:C0154832 is_a: HP:0001147 ! Retinal exudates [Term] id: HP:0007899 name: Retinal nonattachment namespace: medical_genetics xref: UMLS:C0035298 xref: UMLS:C0035331 is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007900 name: Hypoplastic lacrimal duct namespace: medical_genetics xref: UMLS:C1968574 is_a: HP:0000614 ! Abnormality of the lacrimal duct [Term] id: HP:0007901 name: Retinal malformation namespace: medical_genetics alt_id: HP:0007938 synonym: "Retinal malformations" EXACT [] xref: UMLS:C1856041 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007902 name: Vitreous hemorrhage namespace: medical_genetics xref: UMLS:C0042909 xref: UMLS:C1963280 is_a: HP:0004327 ! Abnormality of the vitreous humor is_a: HP:0011029 ! Internal hemorrhage [Term] id: HP:0007903 name: Pigmented paravenous chorioretinal atrophy namespace: medical_genetics xref: UMLS:C1868310 is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007905 name: Abnormal iris vasculature namespace: medical_genetics xref: UMLS:C0005839 xref: UMLS:C0022077 xref: UMLS:C0205161 xref: UMLS:C1278891 xref: UMLS:C2347472 is_a: HP:0000525 ! Abnormality of the iris [Term] id: HP:0007906 name: Increased intraocular pressure namespace: medical_genetics xref: UMLS:C0234708 is_a: HP:0000501 ! Glaucoma [Term] id: HP:0007907 name: Blepharospasm may occur namespace: medical_genetics xref: UMLS:C0005747 xref: UMLS:C1709305 is_a: HP:0000643 ! Blepharospasm [Term] id: HP:0007908 name: Mild antimongoloid slant namespace: medical_genetics xref: UMLS:C0547040 is_a: HP:0000494 ! Downward slanting palpebral fissures [Term] id: HP:0007909 name: Coloboma of upper and lower eyelids namespace: medical_genetics def: "A `coloboma` (HP:0000589) of both the `upper eyelid` (FMA:54439) and of the `lower eyelid` (FMA:54442)." [HPO:probinson] xref: UMLS:C0009363 xref: UMLS:C0229258 xref: UMLS:C1282910 is_a: HP:0000636 ! Upper eyelid coloboma is_a: HP:0000652 ! Lower eyelid coloboma [Term] id: HP:0007910 name: Retinal dystrophy, congenital, nonprogressive namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0854723 xref: UMLS:C1744681 xref: UMLS:C1864820 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007911 name: Congenital bilateral ptosis namespace: medical_genetics alt_id: HP:0007719 alt_id: HP:0007955 synonym: "Ptosis, bilateral congenital" EXACT [] synonym: "Ptosis, congenital bilateral" EXACT [] xref: UMLS:C0005745 xref: UMLS:C0009678 xref: UMLS:C0033377 xref: UMLS:C0238767 xref: UMLS:C1744681 xref: UMLS:C1836264 is_a: HP:0001488 ! Bilateral ptosis is_a: HP:0007970 ! Congenital ptosis [Term] id: HP:0007913 name: Reticular retinal dystrophy namespace: medical_genetics xref: UMLS:C0439739 xref: UMLS:C0854723 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007914 name: Progressive macular dystrophy namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0339508 xref: UMLS:C0730292 is_a: HP:0007754 ! Macular dystrophy [Term] id: HP:0007915 name: Polymorphous posterior corneal dystrophy namespace: medical_genetics 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:curators] xref: UMLS:C0205095 xref: UMLS:C0339284 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007916 name: Small anterior lens surface opacities namespace: medical_genetics xref: UMLS:C0205148 xref: UMLS:C0423338 xref: UMLS:C0700321 is_obsolete: true [Term] id: HP:0007917 name: Tractional retinal detachment namespace: medical_genetics xref: UMLS:C1866178 is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007918 name: Progressive chorioretinal degeneration namespace: medical_genetics xref: UMLS:C1850241 is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0007919 name: Progressive foveal dystrophy namespace: medical_genetics xref: UMLS:C0730294 is_a: HP:0000493 ! Abnormality of the fovea [Term] id: HP:0007920 name: Congenital chorioretinal dystrophy namespace: medical_genetics xref: UMLS:C0332870 is_a: HP:0001135 ! Chorioretinal dystrophy [Term] id: HP:0007921 name: Vestibular dysfunction, variable namespace: medical_genetics xref: UMLS:C0439828 xref: UMLS:C1705098 xref: UMLS:C1843865 is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0007922 name: Hypermyelinated retinal fibers namespace: medical_genetics xref: UMLS:C1849151 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007923 name: Foveal hyperplasia namespace: medical_genetics xref: UMLS:C0016622 xref: UMLS:C0020507 xref: UMLS:C0450290 is_a: HP:0000493 ! Abnormality of the fovea [Term] id: HP:0007924 name: Slow decrease in visual acuity namespace: medical_genetics xref: UMLS:C0042812 xref: UMLS:C0392756 xref: UMLS:C0439834 xref: UMLS:C0547047 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007925 name: Lacrimal duct aplasia or stenosis namespace: medical_genetics xref: UMLS:C0009814 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0459624 xref: UMLS:C0678234 xref: UMLS:C0947637 xref: UMLS:C1261287 is_a: HP:0000614 ! Abnormality of the lacrimal duct [Term] id: HP:0007926 name: Eyelids, eyebrows, and eyelashes absent namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0015422 xref: UMLS:C0015426 xref: UMLS:C0332197 xref: UMLS:C2077307 xref: UMLS:C2228440 xref: UMLS:C2239119 is_a: HP:0002288 ! Absent eyebrows and eyelashes [Term] id: HP:0007928 name: Abnormal flash visual evoked potentials namespace: medical_genetics xref: UMLS:C0262485 xref: UMLS:C0522214 xref: UMLS:C1413133 is_a: HP:0000649 ! Abnormality of vision evoked potentials [Term] id: HP:0007929 name: Peripheral retinal detachment namespace: medical_genetics xref: UMLS:C0035305 xref: UMLS:C0205100 xref: UMLS:C1963229 is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0007930 name: Prominent epicanthal folds namespace: medical_genetics xref: UMLS:C1697450 is_a: HP:0000286 ! Epicanthus [Term] id: HP:0007931 name: Chorioretinal thinning namespace: medical_genetics xref: UMLS:C0332528 xref: UMLS:C0851184 is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007932 name: Bilateral congenital mydriasis namespace: medical_genetics xref: UMLS:C0238767 xref: UMLS:C1303010 is_a: HP:0000615 ! Abnormality of the pupil [Term] id: HP:0007933 name: Broad lateral eyebrows namespace: medical_genetics xref: UMLS:C1837733 is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0007934 name: Progressive pigmentary retinal degeneration namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C1833999 is_a: HP:0001146 ! Pigmentary retinal degeneration [Term] id: HP:0007935 name: Juvenile posterior subcapsular lenticular opacities namespace: medical_genetics xref: UMLS:C1863408 is_a: HP:0007787 ! Posterior subcapsular cataract [Term] id: HP:0007936 name: Restrictive external ophthalmoplegia namespace: medical_genetics xref: UMLS:C1846914 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007937 name: Honeycomb retinal degeneration namespace: medical_genetics xref: UMLS:C0035304 xref: UMLS:C0332468 xref: UMLS:C0349384 xref: UMLS:C1057274 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007939 name: Almost complete colorblindness except ability to see blue namespace: medical_genetics xref: UMLS:C0085732 xref: UMLS:C0205197 xref: UMLS:C0725685 xref: UMLS:C1260957 xref: UMLS:C1947903 is_a: HP:0000551 ! Abnormal color vision [Term] id: HP:0007941 name: Limited extraocular movements namespace: medical_genetics synonym: "Limited extraocular movement" EXACT [] xref: UMLS:C1858427 is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0007942 name: Internal ophthalmoplegia namespace: medical_genetics xref: UMLS:C0339693 is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007943 name: Congenital stapes ankylosis namespace: medical_genetics xref: UMLS:C1866657 is_a: HP:0000381 ! Stapes ankylosis [Term] id: HP:0007944 name: Intermittent microsaccadic pursuits namespace: medical_genetics xref: UMLS:C1846372 is_a: HP:0001152 ! Saccadic smooth pursuit [Term] id: HP:0007945 name: Choroidal degeneration namespace: medical_genetics alt_id: HP:0007912 synonym: "Choroidoretinal degeneration" EXACT [] xref: UMLS:C0011164 xref: UMLS:C0344297 xref: UMLS:C1880269 is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0007946 name: Narrow palpebral fissure, unilateral namespace: medical_genetics xref: UMLS:C0205092 xref: UMLS:C0229244 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1269600 is_a: HP:0000581 ! Blepharophimosis [Term] id: HP:0007947 name: Pericentral retinitis pigmentosa namespace: medical_genetics xref: UMLS:C1849398 is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0007948 name: Dense posterior cortical cataract namespace: medical_genetics def: "A type of `posterior cortical cataract` (HP:0010924) characterized by dense lenticular opacities." [HPO:probinson] xref: UMLS:C0205095 xref: UMLS:C0271160 xref: UMLS:C0439794 is_a: HP:0010924 ! Posterior cortical cataract [Term] id: HP:0007949 name: Progressive macular scarring namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0423428 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007950 name: Peripapillary chorioretinal atrophy namespace: medical_genetics xref: UMLS:C1719838 is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007952 name: Contracted retinal arteries namespace: medical_genetics xref: UMLS:C0035301 xref: UMLS:C1140999 is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0007953 name: Complete congenital stationary night blindness namespace: medical_genetics xref: UMLS:C0205197 xref: UMLS:C0339535 is_a: HP:0000662 ! Night blindness [Term] id: HP:0007954 name: Poor color discrimination namespace: medical_genetics xref: UMLS:C0032854 xref: UMLS:C0542537 xref: UMLS:C0848493 is_a: HP:0000551 ! Abnormal color vision [Term] id: HP:0007956 name: Bilateral choroid coloboma namespace: medical_genetics xref: UMLS:C0238767 xref: UMLS:C0239054 is_a: HP:0000611 ! Choroid coloboma [Term] id: HP:0007957 name: Variable degree of corneal opacities namespace: medical_genetics xref: UMLS:C0010038 xref: UMLS:C0439828 xref: UMLS:C0441889 xref: UMLS:C0542560 xref: UMLS:C1561545 xref: UMLS:C1705098 xref: UMLS:C2348088 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0007958 name: Optic atrophy from cranial nerve compression namespace: medical_genetics xref: UMLS:C0029124 xref: UMLS:C0521670 is_a: HP:0000648 ! Optic atrophy is_a: HP:0001293 ! Cranial nerve compression [Term] id: HP:0007959 name: Severe limitations of eye movements namespace: medical_genetics xref: UMLS:C0015413 xref: UMLS:C0205082 xref: UMLS:C0449295 xref: UMLS:C1519275 is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007960 name: Dyschromatopsia with red-green confusion namespace: medical_genetics xref: UMLS:C0009676 xref: UMLS:C0332575 xref: UMLS:C0332583 xref: UMLS:C0858618 xref: UMLS:C1260956 xref: UMLS:C1963086 is_a: HP:0000642 ! Red-green dyschromatopsia [Term] id: HP:0007961 name: Rarefaction of retinal pigmentation namespace: medical_genetics xref: UMLS:C0151892 xref: UMLS:C0332550 is_a: HP:0001111 ! Retinal depigmentation [Term] id: HP:0007962 name: Speckled corneal dystrophy namespace: medical_genetics xref: UMLS:C0010036 xref: UMLS:C0439691 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007963 name: Macroreticular retinal dystrophy namespace: medical_genetics xref: UMLS:C0854723 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007964 name: Degenerative vitreoretinopathy namespace: medical_genetics xref: UMLS:C1843486 is_a: HP:0007773 ! Vitreoretinal abnormalities [Term] id: HP:0007965 name: Absence of visual evoked potentials namespace: medical_genetics xref: UMLS:C0015217 xref: UMLS:C0546834 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0000649 ! Abnormality of vision evoked potentials [Term] id: HP:0007966 name: Hereditary childhood corneal clouding namespace: medical_genetics xref: UMLS:C0010038 xref: UMLS:C0231335 xref: UMLS:C0439660 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0007968 name: Persistent hyperplasia of primary vitreous namespace: medical_genetics synonym: "Persistent hypertrophic primary vitreous" EXACT [] xref: UMLS:C0020507 xref: UMLS:C0020564 xref: UMLS:C0205322 xref: UMLS:C0231116 xref: UMLS:C0266559 xref: UMLS:C0333959 xref: UMLS:C1282871 is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0007969 name: Central visual loss early namespace: medical_genetics xref: UMLS:C0042798 xref: UMLS:C0205099 xref: UMLS:C1279919 xref: UMLS:C1879652 is_a: HP:0001091 ! Central visual loss [Term] id: HP:0007970 name: Congenital ptosis namespace: medical_genetics xref: UMLS:C0266573 is_a: HP:0000508 ! Ptosis [Term] id: HP:0007971 name: Lamellar cataract namespace: medical_genetics def: "A `congenital cataract` (HP:0000519) in which opacity is limited to layers of the lens external to the nucleus (i.e., the perinuclear region)." [HPO:probinson] synonym: "Congenital lamellar cataracts" EXACT [] xref: UMLS:C0266537 is_a: HP:0010920 ! Zonular cataract [Term] id: HP:0007972 name: Ribbonlike corneal degeneration namespace: medical_genetics xref: UMLS:C0155118 is_a: HP:0007705 ! Corneal degeneration [Term] id: HP:0007973 name: Retinal dysplasia namespace: medical_genetics def: "The presence of `developmental dysplasia` (MPATH:64) of the `retina` (FMA:58301)." [HPO:probinson] xref: UMLS:C0035313 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007974 name: Severe retinal dystrophy namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0854723 xref: UMLS:C1519275 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007975 name: Hypometric horizontal saccades namespace: medical_genetics xref: UMLS:C1856478 is_a: HP:0000571 ! Hypometric saccades [Term] id: HP:0007976 name: Cerulean cataract namespace: medical_genetics def: "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." [HPO:probinson, pmid:19496508, pmid:9158139] synonym: "Cataracts, congenital, cerulean" EXACT [] xref: UMLS:C0009678 xref: UMLS:C0086543 xref: UMLS:C0344523 xref: UMLS:C1744681 is_a: HP:0007648 ! Punctate cataract [Term] id: HP:0007977 name: Aplasia or malposition of lacrimal puncta namespace: medical_genetics comment: This 'bundled' term should not be used for new annotations and will be made obsolete. xref: UMLS:C0229288 xref: UMLS:C0243065 xref: UMLS:C0333042 xref: UMLS:C0334079 xref: UMLS:C1280650 xref: UMLS:C1881601 is_a: HP:0001092 ! Absent lacrimal puncta [Term] id: HP:0007979 name: Gaze-evoked horizontal nystagmus namespace: medical_genetics 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" EXACT [] xref: UMLS:C0028738 xref: UMLS:C0205126 xref: UMLS:C0271385 xref: UMLS:C0553544 xref: UMLS:C1444748 xref: UMLS:C1963184 is_a: HP:0000640 ! Gaze-evoked nystagmus is_a: HP:0000666 ! Nystagmus, horizontal [Term] id: HP:0007980 name: Absent retinal pigment epithelium namespace: medical_genetics xref: UMLS:C1852548 is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007981 name: Concentric narrowing of visual fields namespace: medical_genetics xref: UMLS:C0042826 xref: UMLS:C0332463 xref: UMLS:C0439744 is_a: HP:0001133 ! Constricted visual fields [Term] id: HP:0007982 name: Central tapetoretinal dystrophy namespace: medical_genetics xref: UMLS:C1867102 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007983 name: Reduced visual acuity by age 3 years namespace: medical_genetics xref: UMLS:C0234632 xref: UMLS:C1510829 is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007984 name: Electroretinogram shows a reduced b-wave in most cases namespace: medical_genetics xref: UMLS:C0013867 xref: UMLS:C0392756 xref: UMLS:C0678544 xref: UMLS:C0868928 xref: UMLS:C1421479 xref: UMLS:C1533148 xref: UMLS:C1547282 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0007985 name: Retinal arteriolar narrowing and occlusion namespace: medical_genetics xref: UMLS:C0028778 xref: UMLS:C0332463 xref: UMLS:C0441597 xref: UMLS:C0580762 xref: UMLS:C1110554 xref: UMLS:C1882137 xref: UMLS:C1947917 is_a: HP:0000630 ! Abnormality of retinal arteries is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0007986 name: Increased retinal vascularity namespace: medical_genetics xref: UMLS:C1847882 is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007987 name: Progressive visual field defects namespace: medical_genetics xref: UMLS:C0036454 xref: UMLS:C0205329 is_a: HP:0001123 ! Visual field defects [Term] id: HP:0007988 name: Macular pallor with prominence of fovea centralis namespace: medical_genetics xref: UMLS:C0016622 xref: UMLS:C0030232 xref: UMLS:C0205402 xref: UMLS:C0332574 is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007989 name: Subretinal and intraretinal exudates namespace: medical_genetics xref: UMLS:C0015388 is_a: HP:0001147 ! Retinal exudates [Term] id: HP:0007990 name: Hypoplastic iris stroma namespace: medical_genetics alt_id: HP:0007991 alt_id: HP:0008027 synonym: "Hypoplastic iris stoma" EXACT [] synonym: "Iris stromal hypoplasia" EXACT [] xref: UMLS:C0229181 xref: UMLS:C0344539 xref: UMLS:C0543481 xref: UMLS:C0927195 xref: UMLS:C1860344 is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0007992 name: Lattice retinal degeneration namespace: medical_genetics xref: UMLS:C0154856 is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007993 name: Absent or malformed lacrimal ducts namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0243070 xref: UMLS:C0332197 xref: UMLS:C0459624 is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands [Term] id: HP:0007994 name: Peripheral visual field loss namespace: medical_genetics xref: UMLS:C0036454 xref: UMLS:C0205100 is_a: HP:0001123 ! Visual field defects [Term] id: HP:0007995 name: Ocular coloboma namespace: medical_genetics alt_id: HP:0007767 synonym: "Ocular colobomas" EXACT [] xref: UMLS:C0009363 is_a: HP:0000589 ! Coloboma [Term] id: HP:0007996 name: Microphthalmia, extreme namespace: medical_genetics def: "A developmental anomaly characterized by extreme smallness of one or both eyes." [HPO:curators] xref: UMLS:C0026010 xref: UMLS:C0205403 is_a: HP:0000568 ! Microphthalmos [Term] id: HP:0007997 name: Bilateral coloboma of optic nerve namespace: medical_genetics xref: UMLS:C0009363 xref: UMLS:C0029130 xref: UMLS:C0238767 xref: UMLS:C1268985 is_a: HP:0000588 ! Optic nerve coloboma [Term] id: HP:0007999 name: Progressive juvenile macular dystrophy namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0205653 xref: UMLS:C0339508 xref: UMLS:C0730292 is_a: HP:0007914 ! Progressive macular dystrophy [Term] id: HP:0008000 name: Decreased corneal reflex namespace: medical_genetics xref: UMLS:C0151572 is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0008001 name: Foveal hyperpigmentation namespace: medical_genetics xref: UMLS:C0016622 xref: UMLS:C0162834 xref: UMLS:C0450290 xref: UMLS:C1962962 is_a: HP:0000493 ! Abnormality of the fovea [Term] id: HP:0008002 name: Macular pigmentary changes namespace: medical_genetics xref: UMLS:C0031916 xref: UMLS:C0332574 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C1705241 is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0008003 name: Jerky ocular pursuit movements namespace: medical_genetics alt_id: HP:0007897 synonym: "Jerky smooth pursuit" EXACT [] xref: UMLS:C1299003 xref: UMLS:C1720685 xref: UMLS:C1853558 is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0008004 name: Minute, gray, punctate corneal opacities namespace: medical_genetics xref: UMLS:C0010038 xref: UMLS:C0205330 xref: UMLS:C0439232 xref: UMLS:C0556636 xref: UMLS:C0702093 xref: UMLS:C1269776 xref: UMLS:C1282918 xref: UMLS:C2347166 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0008005 name: Congenital corneal dystrophy namespace: medical_genetics xref: UMLS:C1611195 is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0008007 name: Primary congenital glaucoma namespace: medical_genetics xref: UMLS:C1533041 is_a: HP:0001087 ! Congenital glaucoma [Term] id: HP:0008008 name: Progressive central vision loss namespace: medical_genetics xref: UMLS:C0152191 xref: UMLS:C0205329 is_a: HP:0000529 ! Progressive visual loss [Term] id: HP:0008009 name: Three rows of eyelashes namespace: medical_genetics xref: UMLS:C0015422 xref: UMLS:C0205449 xref: UMLS:C1552840 is_a: HP:0008496 ! Multiple rows of eyelashes [Term] id: HP:0008010 name: Posterior pattern of retinal pigment clumping namespace: medical_genetics xref: UMLS:C0035323 xref: UMLS:C0205095 xref: UMLS:C0449774 xref: UMLS:C1880112 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0008011 name: Peripheral corneal opacities namespace: medical_genetics xref: UMLS:C1848442 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0008012 name: Myopia, congenital namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0027092 xref: UMLS:C1744681 is_a: HP:0000545 ! Myopia [Term] id: HP:0008013 name: Congenital retinal folds namespace: medical_genetics xref: UMLS:C0344550 is_a: HP:0008052 ! Abnormal retinal folds [Term] id: HP:0008014 name: Central fundal arteriolar microaneurysms namespace: medical_genetics xref: UMLS:C0003847 xref: UMLS:C0205099 xref: UMLS:C0333101 xref: UMLS:C1282826 xref: UMLS:C1879652 is_a: HP:0000630 ! Abnormality of retinal arteries is_a: HP:0002617 ! Aneurysm [Term] id: HP:0008015 name: Tortuosity of main retinal vessels namespace: medical_genetics xref: UMLS:C0035330 xref: UMLS:C0205225 xref: UMLS:C0333076 xref: UMLS:C1542147 is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0008016 name: Uncomplicated ectopia lentis namespace: medical_genetics xref: UMLS:C0013581 xref: UMLS:C0443334 is_a: HP:0001083 ! Ectopia lentis [Term] id: HP:0008017 name: Depigmented lesions of the retinal pigment epithelium namespace: medical_genetics xref: UMLS:C0035322 xref: UMLS:C0221198 xref: UMLS:C0333614 is_a: HP:0001111 ! Retinal depigmentation [Term] id: HP:0008019 name: Upward lens dislocation namespace: medical_genetics xref: UMLS:C0023309 xref: UMLS:C1282911 is_a: HP:0000665 ! Lens dislocation [Term] id: HP:0008020 name: Progressive cone degeneration namespace: medical_genetics xref: UMLS:C0011164 xref: UMLS:C0205329 xref: UMLS:C0206428 xref: UMLS:C0330095 xref: UMLS:C1704638 xref: UMLS:C1880269 xref: UMLS:C2350017 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0008021 name: Partial-total retinal detachment namespace: medical_genetics xref: UMLS:C1851404 is_a: HP:0000541 ! Retinal detachment [Term] id: HP:0008022 name: Retinal dysgenesis namespace: medical_genetics xref: UMLS:C1970771 is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0008023 name: Severe visual impairment in males namespace: medical_genetics xref: UMLS:C0024554 xref: UMLS:C0086582 xref: UMLS:C1301509 is_a: HP:0001141 ! Severe visual impairment [Term] id: HP:0008024 name: Congenital nuclear cataract namespace: medical_genetics alt_id: HP:0007781 def: "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." [HPO:probinson] synonym: "Bilateral nuclear cataract" EXACT [] xref: UMLS:C0158551 xref: UMLS:C0238767 xref: UMLS:C0392557 is_a: HP:0000519 ! Congenital cataract [Term] id: HP:0008025 name: Restrictive external opthalmoplegia, bilateral namespace: medical_genetics xref: UMLS:C0205101 xref: UMLS:C0238767 xref: UMLS:C0443288 xref: UMLS:C2003852 is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0008026 name: Horizontal opticokinetic nystagmus namespace: medical_genetics xref: UMLS:C0271385 is_a: HP:0000666 ! Nystagmus, horizontal [Term] id: HP:0008028 name: Cystoid macular degeneration namespace: medical_genetics xref: UMLS:C0546382 is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0008029 name: Abnormal visual pursuit namespace: medical_genetics xref: UMLS:C1848530 is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0008030 name: Retinal arteritis namespace: medical_genetics xref: UMLS:C0271069 is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0008031 name: Posterior Y-sutural cataract namespace: medical_genetics def: "A type of `sutural cataract` (HP:0010695) in which the opacity follows the posterior Y suture." [HPO:probinson] synonym: "Posterior Y-sutural cataracts" EXACT [] xref: UMLS:C0086543 xref: UMLS:C0205095 xref: UMLS:C0439747 xref: UMLS:C1553022 is_a: HP:0010695 ! Sutural cataract [Term] id: HP:0008032 name: Isolated cryptophthalmos namespace: medical_genetics xref: UMLS:C0205409 xref: UMLS:C0311249 is_a: HP:0001126 ! Cryptophthalmos [Term] id: HP:0008033 name: Congenital exotropia namespace: medical_genetics xref: UMLS:C1282374 is_a: HP:0000577 ! Exotropia [Term] id: HP:0008034 name: Abnormal iris pigmentation namespace: medical_genetics def: "Abnormal pigmentation of the `iris` (FMA:58235)." [HPO:probinson] xref: UMLS:C1834387 is_a: HP:0000525 ! Abnormality of the iris is_a: HP:0200045 ! Abnormality of pigmentation [Term] id: HP:0008035 name: Retinitis pigmentosa inversa namespace: medical_genetics xref: UMLS:C0035334 is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0008036 name: Retinal pigmentary dystrophy namespace: medical_genetics xref: UMLS:C0311338 is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0008037 name: Absent anterior eye chamber namespace: medical_genetics xref: UMLS:C0271004 is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0008038 name: Aplastic/hypoplastic lacrimal glands namespace: medical_genetics xref: UMLS:C0334079 xref: UMLS:C1863200 is_a: HP:0000521 ! Abnormality of tear glands or tear production [Term] id: HP:0008039 name: Subepithelial corneal opacities namespace: medical_genetics xref: UMLS:C1857307 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0008040 name: Anterior chamber mesodermal anomalies namespace: medical_genetics xref: UMLS:C0266546 xref: UMLS:C0521459 is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0008041 name: Late onset congenital glaucoma namespace: medical_genetics xref: UMLS:C1856441 is_a: HP:0001087 ! Congenital glaucoma [Term] id: HP:0008042 name: No light-evoked response on electroretinogram namespace: medical_genetics xref: UMLS:C0013867 xref: UMLS:C0023693 xref: UMLS:C0871261 xref: UMLS:C1306462 xref: UMLS:C1444748 xref: UMLS:C1704632 xref: UMLS:C1706817 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0008043 name: Constricted retinal arterioles namespace: medical_genetics xref: UMLS:C0580762 xref: UMLS:C1444778 is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0008045 name: Enlarged flash visual evoked potentials namespace: medical_genetics synonym: "High flash visual evoked potentials" EXACT [] xref: UMLS:C0015217 xref: UMLS:C0205250 xref: UMLS:C0262485 xref: UMLS:C0546834 xref: UMLS:C1299351 xref: UMLS:C1413133 is_a: HP:0007928 ! Abnormal flash visual evoked potentials [Term] id: HP:0008046 name: Abnormality of the retinal vasculature namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0005839 xref: UMLS:C0035298 xref: UMLS:C0035331 xref: UMLS:C1704258 is_a: HP:0000479 ! Abnormality of the retina 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0005839 xref: UMLS:C0015392 xref: UMLS:C1280202 xref: UMLS:C1704258 is_a: HP:0000478 ! Abnormality of the eye created_by: peter creation_date: 2008-04-02T12:10:00Z [Term] id: HP:0008048 name: Abnormality of the line of Schwalbe namespace: medical_genetics def: "An abnormality of the `line of Schwalbe` (FMA:58422)." [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. xref: UMLS:C0000768 xref: UMLS:C0205132 xref: UMLS:C1550648 xref: UMLS:C1552960 xref: UMLS:C1704258 is_a: HP:0000481 ! Abnormality of the cornea created_by: peter creation_date: 2008-04-02T12:12:00Z [Term] id: HP:0008049 name: Abnormality of the extraocular muscles namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0028863 xref: UMLS:C1704258 is_a: HP:0000478 ! Abnormality of the eye created_by: peter creation_date: 2008-04-02T12:14:00Z [Term] id: HP:0008050 name: Abnormality of the palpebral fissures namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1704258 xref: UMLS:C2077312 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 namespace: medical_genetics alt_id: HP:0007743 synonym: "Retinal pigmentary anomaly" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0035322 xref: UMLS:C0035323 xref: UMLS:C1704257 xref: UMLS:C1704258 is_a: HP:0000479 ! Abnormality of the retina created_by: peter creation_date: 2008-04-02T01:32:00Z [Term] id: HP:0008052 name: Abnormal retinal folds namespace: medical_genetics xref: UMLS:C0205161 xref: UMLS:C0229197 xref: UMLS:C2347472 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 namespace: medical_genetics def: "Absence or underdevelopment of the `iris` (FMA:58235)." [HPO:curators] xref: UMLS:C0022077 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1278891 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 created_by: peter creation_date: 2008-04-02T01:50:00Z [Term] id: HP:0008054 name: Abnormality of the vasculature of the conjunctiva namespace: medical_genetics def: "Any abnormality of the blood vessels of the conjunctiva." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0005839 xref: UMLS:C0009758 xref: UMLS:C1278888 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0042160 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0392760 xref: UMLS:C0543481 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0015392 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0392760 xref: UMLS:C0543481 xref: UMLS:C1280202 xref: UMLS:C1314939 is_a: HP:0000478 ! Abnormality of the eye created_by: peter creation_date: 2008-04-02T03:25:00Z [Term] id: HP:0008057 name: Aplasia/Hypoplasia affecting the fundus namespace: medical_genetics xref: UMLS:C0016823 xref: UMLS:C0017129 xref: UMLS:C0227254 xref: UMLS:C0227817 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0392760 xref: UMLS:C0543481 xref: UMLS:C0740422 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0029130 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1268985 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 namespace: medical_genetics xref: UMLS:C0227662 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332573 xref: UMLS:C0334079 xref: UMLS:C0450295 xref: UMLS:C0543481 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 namespace: medical_genetics xref: UMLS:C0016622 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0450290 xref: UMLS:C0543481 is_a: HP:0000493 ! Abnormality of the fovea is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula created_by: peter creation_date: 2008-04-02T03:30:00Z [Term] id: HP:0008061 name: Aplasia/Hypoplasia affecting the retina namespace: medical_genetics xref: UMLS:C0035298 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0392760 xref: UMLS:C0543481 xref: UMLS:C1278894 xref: UMLS:C1314939 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 namespace: medical_genetics def: "Absence or underdevelopment of the `anterior segment` (FMA:58865) of the eye." [HPO:probinson] xref: UMLS:C0015392 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0348014 xref: UMLS:C0392760 xref: UMLS:C0543481 xref: UMLS:C1280202 xref: UMLS:C1314939 is_a: HP:0004328 ! Abnormality of the anterior segment of the eye is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye created_by: peter creation_date: 2008-04-02T03:33:00Z [Term] id: HP:0008063 name: Aplasia/Hypoplasia of the lens namespace: medical_genetics def: "Absence or underdevelopment of the lens." [HPO:curators] xref: UMLS:C0023317 xref: UMLS:C0023318 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0996842 xref: UMLS:C1278892 xref: UMLS:C1509844 xref: UMLS:C2239142 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: Ichthyosiform abnormality of the skin namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0439702 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C1704258 is_a: HP:0000951 ! Abnormality of the skin created_by: peter creation_date: 2008-04-02T03:41:00Z [Term] id: HP:0008065 name: Aplasia/Hypoplasia of the skin namespace: medical_genetics xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0444099 xref: UMLS:C0543481 xref: UMLS:C1123023 xref: UMLS:C1278993 is_a: HP:0000951 ! Abnormality of the skin created_by: peter creation_date: 2008-04-02T03:44:00Z [Term] id: HP:0008066 name: Abnormal blistering of the skin namespace: medical_genetics xref: UMLS:C0005758 xref: UMLS:C0205161 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C2347472 is_a: HP:0000951 ! Abnormality of the skin created_by: peter creation_date: 2008-04-02T03:54:00Z [Term] id: HP:0008067 name: Abnormally lax or hyperextensible skin namespace: medical_genetics xref: UMLS:C0205161 xref: UMLS:C1537528 xref: UMLS:C1844593 xref: UMLS:C2347472 is_a: HP:0000951 ! Abnormality of the skin created_by: peter creation_date: 2008-04-02T03:56:00Z [Term] id: HP:0008069 name: Neoplasm of the skin namespace: medical_genetics def: "A `neoplasm` (MPATH:218) of the `skin` (FMA:7163)." [HPO:probinson] synonym: "Dermatological tumors " EXACT [HPO:sdoelken] synonym: "Neoplasia of the skin" RELATED [] synonym: "Skin tumors" EXACT [] xref: UMLS:C0027651 xref: UMLS:C0037286 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C2064808 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0002664 ! Neoplasia created_by: peter creation_date: 2008-04-02T04:01:00Z [Term] id: HP:0008070 name: Sparse hair namespace: medical_genetics xref: UMLS:C1837770 is_a: HP:0002115 ! Sparse or absent hair created_by: peter creation_date: 2008-04-02T04:11:00Z [Term] id: HP:0008071 name: Maternal hypertension namespace: medical_genetics def: "Increased blood pressure during a pregnancy." [HPO:sdoelken] xref: UMLS:C0565599 is_a: HP:0100603 ! Toxemia of pregnancy [Term] id: HP:0008072 name: Maternal virilization namespace: medical_genetics xref: UMLS:C0042755 xref: UMLS:C1858460 is_a: HP:0002686 ! Prenatal maternal abnormality [Term] id: HP:0008073 name: Low maternal serum estriol namespace: medical_genetics xref: UMLS:C0014927 xref: UMLS:C0205251 xref: UMLS:C0229671 xref: UMLS:C1299352 xref: UMLS:C1550100 xref: UMLS:C1550472 xref: UMLS:C1858460 is_a: HP:0002686 ! Prenatal maternal abnormality [Term] id: HP:0008074 name: Metatarsal periosteal thickening namespace: medical_genetics xref: UMLS:C1834349 is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0008075 name: Progressive pes cavus namespace: medical_genetics xref: UMLS:C1846017 is_a: HP:0001761 ! Pes cavus [Term] id: HP:0008076 name: Osteoporotic tarsals namespace: medical_genetics xref: UMLS:C1836872 is_a: HP:0009132 ! Abnormality of bone mineral density involving tarsal bones [Term] id: HP:0008077 name: Widely spaced and flexed toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0231452 xref: UMLS:C0332464 xref: UMLS:C1710137 xref: UMLS:C1883067 is_a: HP:0008094 ! Widely spaced toes [Term] id: HP:0008078 name: Thin metatarsal cortices namespace: medical_genetics xref: UMLS:C1850162 is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0008079 name: Absent 5th metatarsals namespace: medical_genetics xref: UMLS:C1867932 is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones [Term] id: HP:0008080 name: Hallux varus namespace: medical_genetics 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: UMLS:C0012727 xref: UMLS:C0018534 xref: UMLS:C0205098 xref: UMLS:C0546297 xref: UMLS:C0866710 is_a: HP:0010051 ! Deviation/Displacement of the hallux [Term] id: HP:0008081 name: Valgus foot deformity namespace: medical_genetics xref: UMLS:C0410775 xref: UMLS:C1578482 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0008082 name: Medial deviation of the foot namespace: medical_genetics xref: UMLS:C0012727 xref: UMLS:C0016504 xref: UMLS:C0205098 xref: UMLS:C0205419 xref: UMLS:C0347981 xref: UMLS:C1281587 xref: UMLS:C1705236 xref: UMLS:C2346504 xref: UMLS:C2348613 xref: UMLS:C2348704 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0008083 name: 2nd-5th toe middle phalangeal hypoplasia namespace: medical_genetics xref: UMLS:C1861376 is_a: HP:0004701 ! Hypoplasia of the toes [Term] id: HP:0008085 name: Broad cuboid first metatarsal namespace: medical_genetics xref: UMLS:C1855006 is_a: HP:0010068 ! Broad 1st metatarsal [Term] id: HP:0008087 name: Nonossified fifth metatarsal namespace: medical_genetics def: "The presence of a fifth metatarsal bone that has not undergone ossification at an age when ossification is usually visible." [HPO:curators] xref: UMLS:C0224009 xref: UMLS:C0459705 is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0008371 ! Abnormal ossification involving metatarsal bones [Term] id: HP:0008088 name: Short, tapering toes namespace: medical_genetics xref: UMLS:C0441640 xref: UMLS:C1548969 xref: UMLS:C1836195 is_a: HP:0004701 ! Hypoplasia of the toes [Term] id: HP:0008089 name: Anomalous fifth metatarsal namespace: medical_genetics xref: UMLS:C1839518 is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0008090 name: Ankylosis of feet small joints namespace: medical_genetics xref: UMLS:C0003090 xref: UMLS:C0016504 xref: UMLS:C0022417 xref: UMLS:C0347981 xref: UMLS:C0392905 xref: UMLS:C0700321 is_a: HP:0001376 ! Decreased mobility of joints is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0008093 name: Short fourth and fifth toes namespace: medical_genetics xref: UMLS:C0205438 xref: UMLS:C1261103 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0004701 ! Hypoplasia of the toes [Term] id: HP:0008094 name: Widely spaced toes namespace: medical_genetics def: "The presence of an abnormally wide spacing between the toes." [HPO:curators] xref: UMLS:C1969238 is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0008095 name: Osteolysis of tali namespace: medical_genetics xref: UMLS:C0029435 xref: UMLS:C0039277 xref: UMLS:C1269053 is_a: HP:0008365 ! Abnormality of the talus [Term] id: HP:0008096 name: Medially deviated second toe namespace: medical_genetics xref: UMLS:C0012727 xref: UMLS:C0205098 xref: UMLS:C1261100 is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0008097 name: Partial fusion of tarsals namespace: medical_genetics xref: UMLS:C0332466 xref: UMLS:C0728938 xref: UMLS:C1293131 xref: UMLS:C1550316 xref: UMLS:C1550516 is_a: HP:0008368 ! Synostosis involving tarsal bones [Term] id: HP:0008102 name: Expanded metatarsals with widened medullary cavities namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205229 xref: UMLS:C0332464 xref: UMLS:C1186736 is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0008103 name: Delayed tarsal ossification namespace: medical_genetics alt_id: HP:0008145 synonym: "Tarsal delayed ossification" EXACT [] xref: UMLS:C1550316 xref: UMLS:C1846853 xref: UMLS:C1969348 is_a: HP:0008369 ! Abnormal ossification of tarsal bones [Term] id: HP:0008106 name: Widened metatarsal shaft namespace: medical_genetics xref: UMLS:C1850161 is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0008107 name: Plantar crease between first and second toes namespace: medical_genetics xref: UMLS:C0205435 xref: UMLS:C0442036 xref: UMLS:C1261100 xref: UMLS:C1279901 is_a: HP:0001869 ! Deep plantar creases [Term] id: HP:0008108 name: Advanced tarsal ossification namespace: medical_genetics alt_id: HP:0008137 synonym: "Precociously ossified tarsal bones" EXACT [] xref: UMLS:C1849293 xref: UMLS:C1859157 is_a: HP:0008369 ! Abnormal ossification of tarsal bones [Term] id: HP:0008110 name: Equinovarus deformity namespace: medical_genetics xref: UMLS:C1857118 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0008111 name: Broad distal hallux namespace: medical_genetics xref: UMLS:C1863403 is_a: HP:0010055 ! Broad hallux [Term] id: HP:0008112 name: Plantar flexion contractures namespace: medical_genetics xref: UMLS:C1861239 is_a: HP:0008366 ! Contractures involving the joints of the feet [Term] id: HP:0008113 name: Multiple plantar creases namespace: medical_genetics xref: UMLS:C1861873 is_a: HP:0010613 ! Minor feet anomalies [Term] id: HP:0008114 name: Metatarsal diaphyseal endosteal sclerosis namespace: medical_genetics def: "Osteosclerosis of the endosteal surface of the diaphyses (shafts) of the metatarsal bones." [HPO:curators] xref: UMLS:C1840420 is_a: HP:0008371 ! Abnormal ossification involving metatarsal bones is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0008115 name: 3rd-4th toe clinodactyly namespace: medical_genetics xref: UMLS:C1858040 is_a: HP:0001863 ! Clinodactyly of feet [Term] id: HP:0008116 name: Flexion limitation of toes, progressive, permanent namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205329 xref: UMLS:C0205355 xref: UMLS:C0231452 xref: UMLS:C0449295 is_a: HP:0008128 ! Flexion contractures of the toes [Term] id: HP:0008117 name: Shortening of the talar neck namespace: medical_genetics xref: UMLS:C0223932 xref: UMLS:C0441636 is_a: HP:0008365 ! Abnormality of the talus [Term] id: HP:0008119 name: Deformed tarsal bones namespace: medical_genetics xref: UMLS:C0039316 xref: UMLS:C0333067 is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0008120 name: Valgus position of the calcaneus namespace: medical_genetics xref: UMLS:C0006655 xref: UMLS:C0443344 is_a: HP:0001848 ! Calcaneovalgus deformities [Term] id: HP:0008122 name: Tarsonavicular and calcaneonavicular fusion namespace: medical_genetics xref: UMLS:C0332466 xref: UMLS:C1293131 is_a: HP:0008368 ! Synostosis involving tarsal bones [Term] id: HP:0008124 name: Talipes calcaneovarus namespace: medical_genetics xref: UMLS:C0265646 is_a: HP:0001883 ! Talipes [Term] id: HP:0008125 name: Second metatarsal posteriorly placed namespace: medical_genetics xref: UMLS:C0205095 xref: UMLS:C0223984 xref: UMLS:C0442504 is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0008127 name: Bipartite calcaneus namespace: medical_genetics alt_id: HP:0008104 alt_id: HP:0008130 alt_id: HP:0008146 def: "Bipartite calcaneus is a rarely observed radiographic finding that probably results from delayed coalescence of two primary calcaneal centers of ossification." [HPO:curators] 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:C0006655 xref: UMLS:C0205173 xref: UMLS:C0205421 xref: UMLS:C0332466 xref: UMLS:C0332496 xref: UMLS:C1184744 xref: UMLS:C1293131 xref: UMLS:C1305744 xref: UMLS:C1705764 xref: UMLS:C1705765 xref: UMLS:C1839519 is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008128 name: Flexion contractures of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0333068 is_a: HP:0200027 ! contractures of the toes [Term] id: HP:0008131 name: Punctate calcifications of tarsals namespace: medical_genetics xref: UMLS:C1265883 xref: UMLS:C1321634 xref: UMLS:C1550316 is_a: HP:0008369 ! Abnormal ossification of tarsal bones is_a: HP:0010766 ! Ectopic calcifications is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0008132 name: Medial rotation of the medial malleolus namespace: medical_genetics xref: UMLS:C0223895 xref: UMLS:C0231459 is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0008133 name: Distal tapering of metatarsals namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205108 xref: UMLS:C0441640 xref: UMLS:C1548969 is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0008134 name: Defective, irregular tarsal ossification namespace: medical_genetics alt_id: HP:0008140 synonym: "Small, irregular tarsal centers" EXACT [] xref: UMLS:C0029433 xref: UMLS:C0205099 xref: UMLS:C0205271 xref: UMLS:C0332452 xref: UMLS:C1550316 xref: UMLS:C1855186 is_a: HP:0008369 ! Abnormal ossification of tarsal bones [Term] id: HP:0008135 name: Hypoplastic feet namespace: medical_genetics xref: UMLS:C1848673 is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0008138 name: Equinus deformity of the calcaneus namespace: medical_genetics xref: UMLS:C0006655 xref: UMLS:C0014670 is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008141 name: Dislocation of toes namespace: medical_genetics xref: UMLS:C0012691 xref: UMLS:C0040357 is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0008142 name: Absent talus and calcaneal ossification in infancy namespace: medical_genetics xref: UMLS:C0006655 xref: UMLS:C0029433 xref: UMLS:C0039277 xref: UMLS:C0231330 xref: UMLS:C0332197 xref: UMLS:C1269053 is_a: HP:0010675 ! Abnormality of the mineralisation and ossification of bones of the feet [Term] id: HP:0008144 name: Flattening of the talar dome namespace: medical_genetics xref: UMLS:C0016203 xref: UMLS:C0039277 xref: UMLS:C1269053 xref: UMLS:C1707807 is_a: HP:0001850 ! Abnormality of the tarsal bones [Term] id: HP:0008148 name: Absent platelet aggregation response to epinephrine namespace: medical_genetics xref: UMLS:C0014563 xref: UMLS:C0032176 xref: UMLS:C0332197 xref: UMLS:C0677599 xref: UMLS:C0871261 xref: UMLS:C0920267 xref: UMLS:C1704632 xref: UMLS:C1706817 is_a: HP:0003540 ! Abnormal platelet aggregation [Term] id: HP:0008150 name: Elevated serum transaminases during infections namespace: medical_genetics def: "Elevations of the levels of SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) that occur during infections." [HPO:curators] xref: UMLS:C0021311 xref: UMLS:C1863696 is_a: HP:0002910 ! Elevated transaminases [Term] id: HP:0008151 name: Prolonged prothrombin and partial thromboplastin times namespace: medical_genetics xref: UMLS:C0030605 xref: UMLS:C0033706 xref: UMLS:C0439590 xref: UMLS:C1414504 is_a: HP:0003645 ! Prolonged partial thromboplastin time [Term] id: HP:0008153 name: Periodic hypokalemic paresis namespace: medical_genetics xref: UMLS:C0020621 xref: UMLS:C0030552 xref: UMLS:C0332182 xref: UMLS:C1706381 is_a: HP:0003768 ! Periodic paralysis [Term] id: HP:0008155 name: Acid mucopolysacchariduria namespace: medical_genetics xref: UMLS:C0001128 is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0003567 ! Mucopolysacchariduria [Term] id: HP:0008156 name: Progressive cochlear degeneration namespace: medical_genetics def: "`Progressive` (PATO:0001818) `degeneration` (PATO:0002037) of the `cochlea` (FMA:60201)." [HPO:probinson] synonym: "Audiograms consistent with progressive cochlear degeneration" RELATED [] xref: UMLS:C0018786 xref: UMLS:C0205329 xref: UMLS:C0332290 xref: UMLS:C1849095 is_a: HP:0005102 ! Cochlear degeneration [Term] id: HP:0008157 name: Cone-rod dystrophy by electrophysiology namespace: medical_genetics xref: UMLS:C0013865 xref: UMLS:C0035334 xref: UMLS:C1446476 is_a: HP:0000548 ! Cone-rod dystrophy [Term] id: HP:0008158 name: Hyperapobetalipoproteinemia namespace: medical_genetics 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] xref: UMLS:C0020474 xref: UMLS:C1704417 is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0008159 name: Variable hyperlipidemia namespace: medical_genetics xref: UMLS:C1856286 is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0008160 name: 3-hydroxydicarboxylic aciduria namespace: medical_genetics xref: UMLS:C0278026 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008161 name: Absent leukocyte alkaline phosphatase namespace: medical_genetics def: "A decrease in alkaline phosphatase activity measured within leukocytes below detectable levels ." [HPO:probinson] xref: UMLS:C0332197 xref: UMLS:C0369599 is_a: HP:0004852 ! Low leukocyte alkaline phosphatase [Term] id: HP:0008162 name: Hyperammonemia, asymptomatic namespace: medical_genetics xref: UMLS:C0220994 xref: UMLS:C0231221 is_a: HP:0001987 ! Hyperammonemia [Term] id: HP:0008163 name: Plasma cortisol low namespace: medical_genetics alt_id: HP:0003291 synonym: "Low to undetectable plasma cortisol" EXACT [] xref: UMLS:C0205251 xref: UMLS:C1281899 xref: UMLS:C1299352 xref: UMLS:C1550472 is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0008165 name: Reduced circulating T-helper cells namespace: medical_genetics xref: UMLS:C0018894 xref: UMLS:C0175630 xref: UMLS:C0392756 is_a: HP:0005412 ! Decreased numbers of circulating T cells [Term] id: HP:0008166 name: Decreased beta-galactosidase activity namespace: medical_genetics alt_id: HP:0003644 alt_id: HP:0008300 def: "Abnormally `decreased rate` (PATO:0000911) of `beta-galactosidase activity` (GO:0004565)." [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 [] xref: UMLS:C0016030 xref: UMLS:C0023508 xref: UMLS:C0023516 xref: UMLS:C0032105 xref: UMLS:C0085131 xref: UMLS:C0205216 xref: UMLS:C0268271 xref: UMLS:C0392756 xref: UMLS:C1150053 xref: UMLS:C1550637 is_a: HP:0004342 ! Abnormality of galactoside metabolism [Term] id: HP:0008167 name: Very long chain fatty acid accumulation namespace: medical_genetics xref: UMLS:C0542549 xref: UMLS:C1706693 is_a: HP:0010964 ! Abnormality of long-chain fatty-acid metabolism [Term] id: HP:0008168 name: Increased total bilirubin may occur namespace: medical_genetics xref: UMLS:C0741494 xref: UMLS:C1709305 is_a: HP:0003573 ! Increased total bilirubin [Term] id: HP:0008169 name: Factor VII deficiency namespace: medical_genetics xref: UMLS:C0015503 xref: UMLS:C1333523 is_a: HP:0010988 ! Abnormality of the extrinsic pathway [Term] id: HP:0008170 name: Markedly decreased motor nerve conduction velocities namespace: medical_genetics xref: UMLS:C0522501 xref: UMLS:C1513492 xref: UMLS:C1705994 xref: UMLS:C1857705 is_a: HP:0003431 ! Decreased motor nerve conduction velocity (NCV) [Term] id: HP:0008171 name: Widespread interstitial fibrosis namespace: medical_genetics xref: UMLS:C0205391 xref: UMLS:C0240035 is_a: HP:0000129 ! Interstitial fibrosis [Term] id: HP:0008172 name: Poor prothrombin consumption namespace: medical_genetics xref: UMLS:C0009830 xref: UMLS:C0032854 xref: UMLS:C0033706 xref: UMLS:C0220811 xref: UMLS:C0542537 xref: UMLS:C1414504 xref: UMLS:C1947907 is_a: HP:0003337 ! Abnormal prothrombin consumption [Term] id: HP:0008175 name: Thrombocytopenia, mild-moderate namespace: medical_genetics xref: UMLS:C0040034 xref: UMLS:C0205081 xref: UMLS:C0547040 xref: UMLS:C1881878 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0008176 name: Neonatal unconjugated hyperbilirubinemia namespace: medical_genetics xref: UMLS:C0559506 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0008177 name: Abnormal platelet aggregation in response to various agents namespace: medical_genetics xref: UMLS:C0440102 xref: UMLS:C0450442 xref: UMLS:C0541767 xref: UMLS:C0871261 xref: UMLS:C1254351 xref: UMLS:C1521826 xref: UMLS:C1704632 xref: UMLS:C1706817 is_a: HP:0003540 ! Abnormal platelet aggregation [Term] id: HP:0008178 name: Abnormal cartilage matrix namespace: medical_genetics xref: UMLS:C0205161 xref: UMLS:C0225371 xref: UMLS:C2347472 is_a: HP:0002763 ! Abnormality of cartilage [Term] id: HP:0008179 name: Severely decreased to extinguished eog namespace: medical_genetics xref: UMLS:C0013854 xref: UMLS:C0205082 xref: UMLS:C0205216 xref: UMLS:C0392756 is_a: HP:0000550 ! Abolished electroretinogram (ERG) [Term] id: HP:0008180 name: Mildly elevated creatine phosphokinase namespace: medical_genetics 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:C0547040 xref: UMLS:C0750532 xref: UMLS:C1843875 xref: UMLS:C1846818 xref: UMLS:C1850309 xref: UMLS:C1867012 is_a: HP:0003236 ! Elevated serum creatine phosphokinase [Term] id: HP:0008181 name: Abetalipoproteinemia namespace: medical_genetics def: "An absence of `low-density lipoprotein cholesterol` (CHEBI:47774) in the `blood` (FMA:9670)." [HPO:probinson] comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. xref: UMLS:C0000744 is_a: HP:0003563 ! Hypobetalipoproteinemia [Term] id: HP:0008182 name: Adrenocortical hypoplasia namespace: medical_genetics xref: UMLS:C0243069 xref: UMLS:C0543481 is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0008184 name: Hypoaldosteronism, transient, isolated namespace: medical_genetics xref: UMLS:C0020595 xref: UMLS:C0040704 xref: UMLS:C0205374 xref: UMLS:C0205409 is_a: HP:0000355 ! Hypoaldosteronism [Term] id: HP:0008185 name: Precocious puberty in males namespace: medical_genetics def: "The onset of puberty before the age of 9 years in boys." [HPO:curators] synonym: "Male precocious puberty" EXACT [] xref: UMLS:C0024554 xref: UMLS:C0034013 xref: UMLS:C0086582 xref: UMLS:C0848259 xref: UMLS:C1279930 xref: UMLS:C1706180 xref: UMLS:C1706428 xref: UMLS:C1706429 is_a: HP:0000826 ! Precocious puberty [Term] id: HP:0008186 name: Adrenocortical cytomegaly namespace: medical_genetics xref: UMLS:C1851720 is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0008187 name: Absence of secondary sex characteristics namespace: medical_genetics xref: UMLS:C0036866 xref: UMLS:C0175668 xref: UMLS:C0205436 xref: UMLS:C1522484 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008188 name: Thyroid dysplasia/aplasia namespace: medical_genetics xref: UMLS:C0040132 xref: UMLS:C0243065 xref: UMLS:C0279175 xref: UMLS:C0334044 xref: UMLS:C0334079 xref: UMLS:C2228489 is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0008189 name: Insulin insensitivity namespace: medical_genetics def: "`Decreased sensitivity toward` (PATO:0001550) `insulin` (PRO:000009054)." [HPO:probinson] xref: UMLS:C1864570 is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0008190 name: Mineralocorticoid insufficiency namespace: medical_genetics xref: UMLS:C1846226 is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0008191 name: Athyroidal hypothyroidism namespace: medical_genetics def: "A type of `hypothyroidism` (HP:0000821) that results from a congenital absence of the `thyroid gland` (FMA:9603)." [HPO:probinson, pmid:2918525] xref: UMLS:C0020676 is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0008192 name: Gonadotropin deficiency namespace: medical_genetics xref: UMLS:C0271623 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008193 name: Primary gonadal insufficiency namespace: medical_genetics xref: UMLS:C1859014 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008194 name: Multiple pancreatic beta-cell adenomas namespace: medical_genetics def: "The presence of `multiple` (PATO:0002118) `pancreatic islet cell adenomas` (HP:0008261)." [HPO:probinsojn] xref: UMLS:C0279719 xref: UMLS:C0439064 is_a: HP:0002894 ! Neoplasm of the pancreas is_a: HP:0006476 ! Abnormality of the pancreatic islet cells is_a: HP:0100568 ! Endocrine neoplasia [Term] id: HP:0008197 name: Absence of pubertal development namespace: medical_genetics xref: UMLS:C0020119 xref: UMLS:C0243107 xref: UMLS:C0678723 xref: UMLS:C1527148 xref: UMLS:C1627769 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008198 name: Congenital hypoparathyroidism namespace: medical_genetics xref: UMLS:C1455734 is_a: HP:0000829 ! Hypoparathyroidism [Term] id: HP:0008199 name: Neonatal hypoparathyroidism namespace: medical_genetics xref: UMLS:C0270227 is_a: HP:0000829 ! Hypoparathyroidism [Term] id: HP:0008200 name: Primary hyperparathyroidism namespace: medical_genetics xref: UMLS:C0221002 is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0008201 name: Neonatal true idiopathic hypoparathyroidism namespace: medical_genetics xref: UMLS:C0021289 xref: UMLS:C0205238 xref: UMLS:C0270227 xref: UMLS:C0332240 xref: UMLS:C0342342 xref: UMLS:C1552240 xref: UMLS:C1552264 is_a: HP:0000829 ! Hypoparathyroidism [Term] id: HP:0008202 name: Isolated prolactin deficiency namespace: medical_genetics xref: UMLS:C0271586 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008204 name: Precocious puberty with Sertoli cell tumor namespace: medical_genetics xref: UMLS:C0034013 xref: UMLS:C0036769 is_a: HP:0000826 ! Precocious puberty is_a: HP:0100619 ! Sertoli cell neoplasm [Term] id: HP:0008205 name: Insulin-dependent but ketosis-resistant diabetes namespace: medical_genetics xref: UMLS:C0011860 xref: UMLS:C0021641 xref: UMLS:C0851827 xref: UMLS:C1145751 xref: UMLS:C1533581 xref: UMLS:C1701901 is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0008206 name: Partial growth hormone deficiency namespace: medical_genetics xref: UMLS:C1849662 is_a: HP:0000824 ! Growth hormone deficiency [Term] id: HP:0008207 name: Primary adrenal insufficiency namespace: medical_genetics xref: UMLS:C0001403 is_a: HP:0000846 ! Adrenal insufficiency [Term] id: HP:0008208 name: Parathyroid hyperplasia namespace: medical_genetics def: "`Hyperplasia` (MPATH:134) of the `parathyroid gland` (FMA:13890)." [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 is_a: HP:0000828 ! Abnormality of the parathyroid gland [Term] id: HP:0008209 name: Premature ovarian failure namespace: medical_genetics 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 is_a: HP:0000137 ! Abnormality of the ovary [Term] id: HP:0008211 name: Parathyroid aplasia namespace: medical_genetics def: "`Aplasia` (MPATH:58) of the `parathyroid gland` (FMA:13890)." [HPO:probinson] synonym: "Parathyroid absence>" EXACT [] xref: UMLS:C1861130 is_a: HP:0000828 ! Abnormality of the parathyroid gland [Term] id: HP:0008213 name: Pituitary gonadotropin deficiency namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0018061 xref: UMLS:C0018066 xref: UMLS:C0020635 xref: UMLS:C0032005 xref: UMLS:C0162429 xref: UMLS:C0271623 xref: UMLS:C0304812 xref: UMLS:C0428387 xref: UMLS:C0546642 xref: UMLS:C1579308 xref: UMLS:C1579310 xref: UMLS:C1623416 is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis [Term] id: HP:0008214 name: Decreased serum estradiol namespace: medical_genetics xref: UMLS:C0241011 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008215 name: End-organ unresponsiveness to thyroid hormone namespace: medical_genetics xref: UMLS:C0040135 xref: UMLS:C0178784 xref: UMLS:C0241526 xref: UMLS:C0444930 xref: UMLS:C1522314 is_a: HP:0002930 ! Thyroid hormone receptor defect [Term] id: HP:0008216 name: Dysplastic adrenal glands namespace: medical_genetics xref: UMLS:C1856017 is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0008218 name: Chronic adrenal insufficiency namespace: medical_genetics xref: UMLS:C0001403 xref: UMLS:C0300942 is_a: HP:0000846 ! Adrenal insufficiency [Term] id: HP:0008219 name: Adrenocortical insufficiency namespace: medical_genetics xref: UMLS:C0231179 is_a: HP:0000846 ! Adrenal insufficiency [Term] id: HP:0008220 name: Hypocortisolemia namespace: medical_genetics xref: UMLS:C1833054 is_a: HP:0004317 ! Decreased cortisol production [Term] id: HP:0008221 name: Enlarged adrenal glands namespace: medical_genetics xref: UMLS:C0342499 is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0008222 name: Female infertility namespace: medical_genetics xref: UMLS:C0021361 is_a: HP:0000868 ! Decreased fertility in females [Term] id: HP:0008223 name: Compensated hypothyroidism namespace: medical_genetics xref: UMLS:C0342162 is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0008224 name: Isolated hypogonadotropic hypogonadism namespace: medical_genetics xref: UMLS:C0271623 is_a: HP:0000044 ! Hypogonadotrophic hypogonadism [Term] id: HP:0008225 name: Thyroid follicular hyperplasia namespace: medical_genetics xref: UMLS:C1969546 is_a: HP:0008249 ! Thyroid hyperplasia [Term] id: HP:0008226 name: Androgen insufficiency namespace: medical_genetics xref: UMLS:C0002844 xref: UMLS:C0231179 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008227 name: Pituitary resistance to thyroid hormone namespace: medical_genetics 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] xref: UMLS:C0032005 xref: UMLS:C0040135 xref: UMLS:C0237834 xref: UMLS:C0304812 xref: UMLS:C1522618 xref: UMLS:C1579308 xref: UMLS:C1579310 is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis [Term] id: HP:0008228 name: Pseudohypoaldosteronism type ii namespace: medical_genetics xref: UMLS:C0033805 xref: UMLS:C0441730 is_a: HP:0008242 ! Pseudohypoaldosteronism [Term] id: HP:0008229 name: Thyroid lymphangiectasia namespace: medical_genetics alt_id: HP:0008235 def: "The presence of `lymphangiectasis` (MPATH:98) of the `thyroid gland` (FMA:9603)." [HPO:probinson] comment: A stretching and widening of the lymphatic vessels of the thyroid gland. synonym: "Thyroid lymphangiectasis" EXACT [] xref: UMLS:C1856129 xref: UMLS:C1856160 is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0008230 name: Decreased testosterone in males namespace: medical_genetics xref: UMLS:C0024554 xref: UMLS:C0086582 xref: UMLS:C0241357 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008231 name: Macronodular adrenal hyperplasia namespace: medical_genetics xref: UMLS:C0342495 is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0008232 name: Elevated follicle stimulating hormone namespace: medical_genetics alt_id: HP:0008324 synonym: "Elevated plasma follicle stimulating hormone" EXACT [] xref: UMLS:C0205250 xref: UMLS:C0733758 xref: UMLS:C0857672 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008233 name: Decreased serum progesterone namespace: medical_genetics xref: UMLS:C1858995 is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008236 name: Isosexual precocious puberty namespace: medical_genetics xref: UMLS:C0271528 is_a: HP:0000826 ! Precocious puberty [Term] id: HP:0008237 name: Hypothalamic hypothyroidism namespace: medical_genetics def: "A type of `hypothyroidism` (HP:0000821) that results from a defect in `thyrotropin-releasing hormone activity` (GO:0008437)." [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. xref: UMLS:C0220998 xref: UMLS:C1421143 is_a: HP:0000821 ! Hypothyroidism is_a: HP:0002443 ! Abnormality of the hypothalamus [Term] id: HP:0008238 name: Anterior pituitary hypoplasia namespace: medical_genetics xref: UMLS:C1859775 is_a: HP:0000864 ! Abnormality of the hypothalamus-pituitary axis [Term] id: HP:0008239 name: Adrenal medullary hypoplasia namespace: medical_genetics def: "Developmental hypoplasia of the `adrenal medulla` (FMA:15633)." [HPO:probinson] xref: UMLS:C0001625 xref: UMLS:C0001629 xref: UMLS:C0025148 xref: UMLS:C0151773 xref: UMLS:C0220766 xref: UMLS:C0521428 xref: UMLS:C1550278 xref: UMLS:C1868690 xref: UMLS:C2231088 is_a: HP:0000835 ! Adrenal hypoplasia [Term] id: HP:0008240 name: Secondary growth hormone deficiency namespace: medical_genetics xref: UMLS:C0013338 xref: UMLS:C0175668 xref: UMLS:C0205436 xref: UMLS:C0271561 xref: UMLS:C1522484 is_a: HP:0000824 ! Growth hormone deficiency [Term] id: HP:0008241 name: Mild hyperthyroidism namespace: medical_genetics def: "The presence of `mild` (PATO:0000394) `hyperthyroidism` (HP:0000836)." [HPO:curators] xref: UMLS:C0020550 xref: UMLS:C0547040 is_a: HP:0000836 ! Hyperthyroidism [Term] id: HP:0008242 name: Pseudohypoaldosteronism namespace: medical_genetics xref: UMLS:C0033805 is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0008244 name: Congenital adrenal hypoplasia namespace: medical_genetics def: "A type of `adrenal hypoplasia` (HP:0000835) with `congenital onset` (HP:0003577)." [HPO:probinson] synonym: "Congenital adrenal gland hypoplasia" EXACT [] xref: UMLS:C0220766 is_a: HP:0000835 ! Adrenal hypoplasia [Term] id: HP:0008245 name: TSH deficient hypothyroidism namespace: medical_genetics alt_id: HP:0008248 def: "A type of `hypothyroidism` (HP:0000821) that results from a defect in `thyroid-stimulating hormone secretion` (GO:0070460)." [HPO:probinson] synonym: "Thyroid stimulating hormone deficiency" EXACT [] xref: UMLS:C0011155 xref: UMLS:C0020676 xref: UMLS:C0040160 xref: UMLS:C0162429 xref: UMLS:C0271789 xref: UMLS:C1535531 xref: UMLS:C1623416 is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0008246 name: Adrenal hypoplasia of the miniature adult type namespace: medical_genetics xref: UMLS:C0001675 xref: UMLS:C0220766 xref: UMLS:C0332307 xref: UMLS:C1547052 xref: UMLS:C1552651 xref: UMLS:C1706450 xref: UMLS:C1849011 xref: UMLS:C1868690 is_a: HP:0000835 ! Adrenal hypoplasia [Term] id: HP:0008247 name: Euthyroid hyperthyroxinemia namespace: medical_genetics alt_id: HP:0008212 def: "An `abnormality of thyroid physiology (`HP:0002926) characterized by increased levels of `thyroxine` (CHEBI:30660) 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 [] xref: UMLS:C0020551 xref: UMLS:C0117002 xref: UMLS:C0231221 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0008249 name: Thyroid hyperplasia namespace: medical_genetics def: "`Hyperplasia` (MPATH:134) of the `thyroid gland` (FMA:9603)." [HPO:probinson] xref: UMLS:C1112776 is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0008250 name: Infantile hypercalcemia namespace: medical_genetics xref: UMLS:C0475732 is_a: HP:0003072 ! Hypercalcemia [Term] id: HP:0008251 name: Congenital goiter namespace: medical_genetics xref: UMLS:C0010308 xref: UMLS:C0349476 is_a: HP:0000853 ! Goiter [Term] id: HP:0008252 name: Primary adrenocortical failure namespace: medical_genetics xref: UMLS:C1846222 is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0008253 name: Diabetic ketoacidosis namespace: medical_genetics xref: UMLS:C0011880 is_a: HP:0001953 ! Diabetic ketosis is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0008254 name: Neonatal primary hyperparathyroidism namespace: medical_genetics xref: UMLS:C0021289 xref: UMLS:C0205225 xref: UMLS:C0221002 xref: UMLS:C0345406 xref: UMLS:C0439631 xref: UMLS:C1552240 xref: UMLS:C1552264 is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0008255 name: Transient neonatal diabetes mellitus namespace: medical_genetics xref: UMLS:C0040704 xref: UMLS:C0158981 xref: UMLS:C0205374 is_a: HP:0000857 ! Neonatal insulin-dependent diabetes mellitus [Term] id: HP:0008256 name: Adrenocortical adenoma namespace: medical_genetics alt_id: HP:0008196 def: "Adrenocortical adenomas are benign tumors of the adrenal cortex." [HPO:curators] synonym: "Adrenocortical adenomas" EXACT [] xref: UMLS:C0206667 is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0008257 name: Solitary parathyroid adenomas namespace: medical_genetics xref: UMLS:C0205171 xref: UMLS:C0262587 is_a: HP:0002897 ! Parathyroid adenoma [Term] id: HP:0008258 name: Congenital adrenal hyperplasia namespace: medical_genetics xref: UMLS:C0001627 is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0008259 name: Adrenocorticotropic hormone -resistant adrenal insufficiency namespace: medical_genetics xref: UMLS:C0001623 xref: UMLS:C0001655 xref: UMLS:C0332325 xref: UMLS:C0405580 xref: UMLS:C1523997 is_a: HP:0000846 ! Adrenal insufficiency [Term] id: HP:0008261 name: Pancreatic islet cell adenoma namespace: medical_genetics def: "The presence of an `adenoma` (MPATH:270) of the `pancreas` (FMA:7198) with origin in a `pancreatic B cell` (CL:0000169)." [HPO:probinson] xref: UMLS:C1851697 is_a: HP:0002894 ! Neoplasm of the pancreas is_a: HP:0006476 ! Abnormality of the pancreatic islet cells is_a: HP:0100568 ! Endocrine neoplasia [Term] id: HP:0008262 name: Thyroid hormone resistance namespace: medical_genetics alt_id: HP:0008243 synonym: "Resistance to thyroid hormone" EXACT [] xref: UMLS:C0040135 xref: UMLS:C0237834 xref: UMLS:C0242604 xref: UMLS:C1522618 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0008263 name: Thyroid defect in oxidation and organification of iodide namespace: medical_genetics xref: UMLS:C0021966 xref: UMLS:C0030011 xref: UMLS:C0040132 xref: UMLS:C0279175 xref: UMLS:C1457869 xref: UMLS:C1861101 xref: UMLS:C2228489 is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0008264 name: Leukocyte granulation abnormality namespace: medical_genetics xref: UMLS:C0152009 xref: UMLS:C0518864 is_a: HP:0001881 ! Abnormality of leukocytes [Term] id: HP:0008265 name: Mitochondrial lysine transport defect namespace: medical_genetics xref: UMLS:C0024337 xref: UMLS:C0026237 xref: UMLS:C0521451 xref: UMLS:C0678851 xref: UMLS:C1446005 xref: UMLS:C1457869 xref: UMLS:C1817793 xref: UMLS:C1861101 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008268 name: Moderate-to-severe thrombocytopenia namespace: medical_genetics xref: UMLS:C0040034 xref: UMLS:C0205081 xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1881878 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0008269 name: Increased red cell hemolysis by shear stress namespace: medical_genetics xref: UMLS:C0014792 xref: UMLS:C0019054 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C1171318 xref: UMLS:C1548777 xref: UMLS:C1553188 xref: UMLS:C1630417 is_a: HP:0005503 ! Increased hemolysis [Term] id: HP:0008270 name: Impaired lysine intestinal absorption namespace: medical_genetics xref: UMLS:C0024337 xref: UMLS:C0392687 xref: UMLS:C1446005 is_a: HP:0002024 ! Malabsorption [Term] id: HP:0008271 name: Abnormal cartilage collagen on EM namespace: medical_genetics xref: UMLS:C0007301 xref: UMLS:C0009325 xref: UMLS:C0205161 xref: UMLS:C1167364 xref: UMLS:C2347472 is_a: HP:0002763 ! Abnormality of cartilage [Term] id: HP:0008272 name: Renal tubular lysine transport defect namespace: medical_genetics xref: UMLS:C0268709 xref: UMLS:C1817793 is_a: HP:0000124 ! Renal tubular dysfunction [Term] id: HP:0008273 name: Transient aminoaciduria namespace: medical_genetics xref: UMLS:C0040704 xref: UMLS:C0205374 xref: UMLS:C0238621 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008275 name: Abnormal cone-mediated electroretinogram namespace: medical_genetics xref: UMLS:C0127400 xref: UMLS:C0206428 xref: UMLS:C0330095 xref: UMLS:C0476397 xref: UMLS:C1704638 xref: UMLS:C2350017 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0008276 name: Onion bulb formations on sural nerve biopsy namespace: medical_genetics xref: UMLS:C0740403 xref: UMLS:C1847906 is_a: HP:0003383 ! 'Onion bulb' formations on nerve biopsy [Term] id: HP:0008277 name: Abnormality of zinc homeostasis namespace: medical_genetics def: "An abnormality of `zinc ion homeostasis` (GO:0055069)." [HPO:probinson] synonym: "Abnormal zinc metabolism" RELATED [] xref: UMLS:C0025519 xref: UMLS:C0025520 xref: UMLS:C0043481 xref: UMLS:C0205161 xref: UMLS:C2347472 xref: UMLS:C2348288 is_a: HP:0011030 ! Abnormality of transition element cation homeostasis [Term] id: HP:0008278 name: Massive cerebellar cortical atrophy with vacuolated or binucleated purkinje cells namespace: medical_genetics xref: UMLS:C0001613 xref: UMLS:C0007765 xref: UMLS:C0007776 xref: UMLS:C0022655 xref: UMLS:C0034143 xref: UMLS:C0235946 xref: UMLS:C0522501 xref: UMLS:C0740279 xref: UMLS:C1980010 is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0008279 name: Transient hyperlipidemia namespace: medical_genetics xref: UMLS:C1850722 is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0008280 name: Absent cone and rod functions by electroretinogram namespace: medical_genetics alt_id: HP:0003230 synonym: "Absent cone and rod functions by electroretinogram (ERG)" EXACT [] xref: UMLS:C0013867 xref: UMLS:C0206427 xref: UMLS:C0206428 xref: UMLS:C0330095 xref: UMLS:C0332197 xref: UMLS:C0542341 xref: UMLS:C1552915 xref: UMLS:C1704638 xref: UMLS:C1705186 xref: UMLS:C1947942 xref: UMLS:C2347970 xref: UMLS:C2347971 xref: UMLS:C2350017 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0008281 name: Hyperammonemia, acute namespace: medical_genetics xref: UMLS:C0205178 xref: UMLS:C0220994 is_a: HP:0001987 ! Hyperammonemia [Term] id: HP:0008282 name: Unconjugated hyperbilirubinemia namespace: medical_genetics alt_id: HP:0008289 def: "An increased amount of unconjugated (indirect) bilurubin in the blood." [HPO:probinson] xref: UMLS:C0268306 is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0008283 name: Hyperinsulinemia, fasting namespace: medical_genetics xref: UMLS:C0015663 xref: UMLS:C0020459 xref: UMLS:C1550565 is_a: HP:0000842 ! Hyperinsulinemia [Term] id: HP:0008284 name: Generalized nonspecific aminoaciduria namespace: medical_genetics xref: UMLS:C0750540 xref: UMLS:C1847868 is_a: HP:0002909 ! Generalized aminoaciduria [Term] id: HP:0008285 name: Transient hypophosphatemia namespace: medical_genetics xref: UMLS:C0040704 xref: UMLS:C0085682 xref: UMLS:C0205374 is_a: HP:0002148 ! Hypophosphatemia [Term] id: HP:0008286 name: Partial deficiency of factor xii:c namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0015525 xref: UMLS:C0162429 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1623416 is_a: HP:0004841 ! Factor XII deficiency [Term] id: HP:0008287 name: Methylcobalamin, cbl g, deficiency namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0065844 xref: UMLS:C0162429 xref: UMLS:C0439267 xref: UMLS:C1553027 xref: UMLS:C1623416 is_a: HP:0003223 ! Decreased methylcobalamin (MECBL) [Term] id: HP:0008288 name: Nonketotic hyperglycinemia namespace: medical_genetics xref: UMLS:C0751748 is_a: HP:0002154 ! Hyperglycinemia [Term] id: HP:0008290 name: Partial complement factor h deficiency namespace: medical_genetics xref: UMLS:C0398777 xref: UMLS:C0728938 xref: UMLS:C1550516 is_a: HP:0005369 ! Decreased serum complement factor H [Term] id: HP:0008291 name: ACTH-producing pituitary microadenomas namespace: medical_genetics def: "Presence of microadenomas that produce adrenocorticotropic hormone (ACTH) in the pituitary gland." [HPO:curators] xref: UMLS:C0033268 xref: UMLS:C0346306 xref: UMLS:C1709696 is_a: HP:0002893 ! Pituitary adenoma [Term] id: HP:0008292 name: Parathyroid hormone absent to low namespace: medical_genetics xref: UMLS:C0030520 xref: UMLS:C0205251 xref: UMLS:C0332197 xref: UMLS:C1299352 xref: UMLS:C1550472 is_a: HP:0000829 ! Hypoparathyroidism [Term] id: HP:0008293 name: Long-chain dicarboxylic aciduria namespace: medical_genetics xref: UMLS:C1837273 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008294 name: Mildly prolonged bleeding time 10-12 minutes namespace: medical_genetics xref: UMLS:C0005729 xref: UMLS:C0439590 xref: UMLS:C0456692 xref: UMLS:C0547040 xref: UMLS:C0750532 xref: UMLS:C1318440 xref: UMLS:C1442446 is_a: HP:0003010 ! Prolonged bleeding time [Term] id: HP:0008297 name: Transient hyperphenylalaninemia namespace: medical_genetics xref: UMLS:C0268464 is_a: HP:0004923 ! Hyperphenylalaninemia [Term] id: HP:0008301 name: Dermatan sulfate excretion in urine namespace: medical_genetics def: "An `increased concentration` (PATO:0001162) of `dermatan sulfate` (CHEBI:18376) in the `urine` (FMA:12274)." [HPO:gcarletti] xref: UMLS:C0011602 xref: UMLS:C0042036 xref: UMLS:C0042037 xref: UMLS:C0221102 xref: UMLS:C0504085 is_a: HP:0003541 ! Dermatan and heparan sulfate excretion in urine [Term] id: HP:0008302 name: Mild-to-moderate thrombocytopenia namespace: medical_genetics xref: UMLS:C0040034 xref: UMLS:C1299392 is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0008303 name: Cerebellar atrophy with degeneration in the olivary nuclei namespace: medical_genetics xref: UMLS:C0011164 xref: UMLS:C0228539 xref: UMLS:C0740279 xref: UMLS:C1880269 is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0008304 name: Electrophysiologic evidence of axonal neuropathy namespace: medical_genetics xref: UMLS:C0013865 xref: UMLS:C0270921 xref: UMLS:C0332120 xref: UMLS:C1446476 is_a: HP:0003477 ! Axonal neuropathy [Term] id: HP:0008305 name: Myoglobinuria, exercise-induced namespace: medical_genetics alt_id: HP:0008319 synonym: "Exercise-induced myoglobinuria in adults" RELATED [] xref: UMLS:C0001675 xref: UMLS:C0027080 xref: UMLS:C0239313 xref: UMLS:C1845155 is_a: HP:0002913 ! Myoglobinuria [Term] id: HP:0008306 name: Abnormal iron deposition in mitochondria namespace: medical_genetics xref: UMLS:C0026237 xref: UMLS:C0205161 xref: UMLS:C0302583 xref: UMLS:C0333562 xref: UMLS:C0376520 xref: UMLS:C2347472 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008308 name: Mild-moderate hyperammonemia namespace: medical_genetics xref: UMLS:C1854694 is_a: HP:0001987 ! Hyperammonemia [Term] id: HP:0008309 name: Medium chain dicarboxylic aciduria namespace: medical_genetics xref: UMLS:C1860081 is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008311 name: Spinal cord posterior columns myelin loss namespace: medical_genetics xref: UMLS:C0026969 xref: UMLS:C0026973 xref: UMLS:C0205095 xref: UMLS:C1517945 xref: UMLS:C1519455 is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0008312 name: Progressive loss of anterior horn cells namespace: medical_genetics xref: UMLS:C0003154 xref: UMLS:C0205329 xref: UMLS:C1517945 is_a: HP:0002398 ! Degeneration of anterior horn cells [Term] id: HP:0008313 name: Myoglobinuria, episodic namespace: medical_genetics xref: UMLS:C0027080 xref: UMLS:C1455761 is_a: HP:0003652 ! Recurrent myoglobinuria [Term] id: HP:0008314 name: Decreased activity of mitochondrial complex ii namespace: medical_genetics xref: UMLS:C0026237 xref: UMLS:C0086439 xref: UMLS:C0521451 xref: UMLS:C2263441 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008315 name: Decreased plasma total and free carnitine namespace: medical_genetics def: "A decreased concentration of total and free `carnitine` (CHEBI:17126) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C0007258 xref: UMLS:C0032105 xref: UMLS:C0087163 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C0439175 xref: UMLS:C0439810 xref: UMLS:C1880497 is_a: HP:0003234 ! Decreased plasma carnitine [Term] id: HP:0008316 name: Abnormal mitochondria in muscle tissue namespace: medical_genetics synonym: "Abnormal mitochondria on muscle biopsy" EXACT [] synonym: "Muscle biopsy shows abnormal mitochondria" EXACT [] xref: UMLS:C0026237 xref: UMLS:C0185283 xref: UMLS:C0205161 xref: UMLS:C0587033 xref: UMLS:C1536372 xref: UMLS:C1547282 xref: UMLS:C2347472 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008317 name: Mild generalized aminoaciduria namespace: medical_genetics xref: UMLS:C0547040 xref: UMLS:C1847868 is_a: HP:0002909 ! Generalized aminoaciduria [Term] id: HP:0008318 name: Elevated leukocyte alkaline phosphatase namespace: medical_genetics def: "An increased alkaline phosphatase activity measured within leukocytes." [HPO:probinson] xref: UMLS:C0023516 xref: UMLS:C0151849 xref: UMLS:C0205250 xref: UMLS:C0369599 is_a: HP:0003155 ! Elevated alkaline phosphatase [Term] id: HP:0008320 name: Reduced platelet aggregation response to collagen and thrombin namespace: medical_genetics xref: UMLS:C0009325 xref: UMLS:C0032176 xref: UMLS:C0040018 xref: UMLS:C0392756 xref: UMLS:C0677599 xref: UMLS:C0871261 xref: UMLS:C0920267 xref: UMLS:C1167364 xref: UMLS:C1704632 xref: UMLS:C1706817 is_a: HP:0003540 ! Abnormal platelet aggregation [Term] id: HP:0008321 name: Factor X deficiency namespace: medical_genetics xref: UMLS:C0015519 xref: UMLS:C1414497 is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0008322 name: Ultrastructural abnormalities in mitochondria on electron microscopy namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0026019 xref: UMLS:C0026237 xref: UMLS:C0041623 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008323 name: Abnormal rod and cone electroretinograms namespace: medical_genetics xref: UMLS:C0013867 xref: UMLS:C0205161 xref: UMLS:C0206427 xref: UMLS:C0206428 xref: UMLS:C0330095 xref: UMLS:C1552915 xref: UMLS:C1704638 xref: UMLS:C1705186 xref: UMLS:C1947942 xref: UMLS:C2347472 xref: UMLS:C2347970 xref: UMLS:C2347971 xref: UMLS:C2350017 is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0008325 name: Total serum gamma globulins low namespace: medical_genetics xref: UMLS:C0017007 xref: UMLS:C0036800 xref: UMLS:C0205251 xref: UMLS:C0229671 xref: UMLS:C0439175 xref: UMLS:C0439810 xref: UMLS:C1299352 xref: UMLS:C1550100 xref: UMLS:C1550472 xref: UMLS:C1552644 xref: UMLS:C2349976 is_a: HP:0004315 ! Decreased IgG level [Term] id: HP:0008326 name: Vitamin B6 deficiency namespace: medical_genetics xref: UMLS:C0936215 is_a: HP:0004340 ! Abnormality of vitamin B metabolism [Term] id: HP:0008327 name: Microscopic nephrocalcinosis namespace: medical_genetics xref: UMLS:C0403474 is_a: HP:0000121 ! Nephrocalcinosis [Term] id: HP:0008328 name: Absent or severely reduced levels of serum immunoglobulins namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0332197 xref: UMLS:C0392756 xref: UMLS:C0441889 xref: UMLS:C2229771 is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0008330 name: Decreased von Willebrand factor namespace: medical_genetics xref: UMLS:C0015513 xref: UMLS:C0042971 xref: UMLS:C0205216 xref: UMLS:C0392756 xref: UMLS:C1336938 xref: UMLS:C2239219 is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0008331 name: Elevated creatine kinase after exercise namespace: medical_genetics xref: UMLS:C0015259 xref: UMLS:C1522704 xref: UMLS:C1846818 is_a: HP:0003236 ! Elevated serum creatine phosphokinase [Term] id: HP:0008332 name: Mild hypertriglyceridemia namespace: medical_genetics alt_id: HP:0008174 synonym: "Mild elevation of triglycerides" EXACT [] xref: UMLS:C0041004 xref: UMLS:C0439775 xref: UMLS:C0547040 xref: UMLS:C0702240 xref: UMLS:C1867531 is_a: HP:0002155 ! Hypertriglyceridemia [Term] id: HP:0008333 name: Elevated long chain fatty acids in plasma, fibroblasts and amniocytes namespace: medical_genetics xref: UMLS:C0016030 xref: UMLS:C0032105 xref: UMLS:C1550637 xref: UMLS:C1859241 is_a: HP:0003455 ! Elevated long chain fatty acids [Term] id: HP:0008334 name: Mild hyperammonemia namespace: medical_genetics xref: UMLS:C1854701 is_a: HP:0001987 ! Hyperammonemia [Term] id: HP:0008335 name: Renal aminoaciduria namespace: medical_genetics def: "An increased concentration of an `amino acid` (CHEBI:33709 ) 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: UMLS:C0002534 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008336 name: Complex organic aciduria namespace: medical_genetics xref: UMLS:C0241775 xref: UMLS:C0439855 is_a: HP:0001992 ! Organic aciduria is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008337 name: Prolonged bleeding time 15-to->30 minutes namespace: medical_genetics xref: UMLS:C0005729 xref: UMLS:C0439590 xref: UMLS:C0456693 xref: UMLS:C1318440 xref: UMLS:C1442458 is_a: HP:0003010 ! Prolonged bleeding time [Term] id: HP:0008338 name: Partial functional complement factor D deficiency namespace: medical_genetics xref: UMLS:C0205245 xref: UMLS:C0542341 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1851396 is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0008339 name: Diaminoaciduria namespace: medical_genetics is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008341 name: Renal tubular acidosis, type i namespace: medical_genetics xref: UMLS:C0001126 xref: UMLS:C0441729 is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0008342 name: Mildly elevated transaminases namespace: medical_genetics def: "Mild elevation of the serum transaminases SGOT and SGPT." [HPO:curators] comment: This term may be made obsolete in the future. The degree of elevation can be indicated in the annotation file. xref: UMLS:C1849403 is_a: HP:0002910 ! Elevated transaminases [Term] id: HP:0008344 name: Elevated plasma branched chain amino acids namespace: medical_genetics def: "An increased concentration of a `branched chain amino acid` (CHEBI:22918) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C0002521 xref: UMLS:C0032105 xref: UMLS:C0205250 is_a: HP:0010892 ! Abnormality of branched chain family amino acid metabolism [Term] id: HP:0008345 name: Hypoplasia of the iris dilator muscle namespace: medical_genetics xref: UMLS:C0180431 xref: UMLS:C0243069 xref: UMLS:C0459750 xref: UMLS:C0543481 is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0008346 name: Increased red cell sickling tendency namespace: medical_genetics xref: UMLS:C0014792 xref: UMLS:C0205217 xref: UMLS:C0221283 xref: UMLS:C0442805 xref: UMLS:C1998911 is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0008347 name: Decreased activity of mitochondrial respiratory complexes i, ii+iii, and iv namespace: medical_genetics xref: UMLS:C0026237 xref: UMLS:C0086439 xref: UMLS:C0439070 xref: UMLS:C0521451 xref: UMLS:C1705160 xref: UMLS:C2363240 is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008348 name: Reduced IgG levels, particularly the IgG2 subclass namespace: medical_genetics alt_id: HP:0008310 def: "A reduction in immunoglobulin levels affecting particular the IgG2 subclass." [HPO:curators] synonym: "Reduced IgG levels, particularly IgG2 subclass" EXACT [] xref: UMLS:C0020856 xref: UMLS:C0445604 xref: UMLS:C0457784 xref: UMLS:C1839308 xref: UMLS:C1882299 is_a: HP:0004315 ! Decreased IgG level [Term] id: HP:0008349 name: Combined factor viii and factor ix deficiency namespace: medical_genetics xref: UMLS:C0008533 xref: UMLS:C0015506 xref: UMLS:C0205195 xref: UMLS:C1366464 is_a: HP:0003125 ! Factor VIII deficiency [Term] id: HP:0008352 name: Platelet adhesion and aggregation decreased namespace: medical_genetics xref: UMLS:C0032174 xref: UMLS:C0200472 xref: UMLS:C0205216 xref: UMLS:C0332621 xref: UMLS:C0392756 xref: UMLS:C0439168 is_a: HP:0003540 ! Abnormal platelet aggregation [Term] id: HP:0008353 name: Neutral hyperaminoaciduria namespace: medical_genetics xref: UMLS:C1856194 is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0008354 name: Factor X activation deficiency namespace: medical_genetics xref: UMLS:C0015519 xref: UMLS:C1414497 xref: UMLS:C1879547 is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0008355 name: Combined factor vii and viii deficiency namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0015502 xref: UMLS:C0162429 xref: UMLS:C0205195 xref: UMLS:C0445599 xref: UMLS:C1413661 xref: UMLS:C1623416 is_a: HP:0003125 ! Factor VIII deficiency [Term] id: HP:0008356 name: Combined hyperlipidemia namespace: medical_genetics xref: UMLS:C0865199 is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0008357 name: Partial deficiency of factor XIII:C namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0015528 xref: UMLS:C0162429 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1623416 is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0008358 name: Hyperprolinemia namespace: medical_genetics def: "An increased concentration of `proline` (CHEBI:26271) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C0268528 is_a: HP:0010907 ! Abnormality of proline metabolism [Term] id: HP:0008360 name: Neonatal hypoproteinemia namespace: medical_genetics def: "A `neonatal` (PATO:0002206) `decreased concentration` (PATO:0001163) of `proteins` (CHEBI:36080) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C0020639 xref: UMLS:C0021289 xref: UMLS:C1552240 xref: UMLS:C1552264 is_a: HP:0003075 ! Hypoproteinemia [Term] id: HP:0008361 name: Corticospinal tract pallor namespace: medical_genetics xref: UMLS:C0030232 xref: UMLS:C0936236 is_a: HP:0002492 ! Abnormality of the corticospinal tract [Term] id: HP:0008362 name: Aplasia/Hypoplasia of the hallux namespace: medical_genetics 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 [] xref: UMLS:C0018534 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0001991 ! Aplasia/Hypoplasia of the toes created_by: peter creation_date: 2008-04-04T11:33:00Z [Term] id: HP:0008363 name: Aplasia/Hypoplasia of the tarsal bones namespace: medical_genetics alt_id: HP:0008109 def: "Absence or underdevelopment of the tarsal bones." [HPO:curators] synonym: "Aplastic/hypoplastic tarsals" EXACT [] xref: UMLS:C0039316 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1550316 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0006655 xref: UMLS:C1704258 is_a: HP:0001850 ! Abnormality of the tarsal bones created_by: peter creation_date: 2008-04-04T11:38:00Z [Term] id: HP:0008365 name: Abnormality of the talus namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0039277 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1269053 xref: UMLS:C1704258 is_a: HP:0001850 ! Abnormality of the tarsal bones created_by: peter creation_date: 2008-04-04T11:43:00Z [Term] id: HP:0008366 name: Contractures involving the joints of the feet namespace: medical_genetics xref: UMLS:C0009917 xref: UMLS:C0016504 xref: UMLS:C0022417 xref: UMLS:C0347981 xref: UMLS:C0392905 xref: UMLS:C1314939 is_a: HP:0001760 ! Abnormality of the feet 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: Synostosis involving tarsal bones namespace: medical_genetics alt_id: HP:0001851 alt_id: HP:0001957 alt_id: HP:0008092 synonym: "Tarsal bone fusion" EXACT [] synonym: "Tarsal bone synostosis" EXACT [] synonym: "Tarsal fusion" EXACT [] synonym: "Tarsal fusions" EXACT [] synonym: "Tarsal synostosis" RELATED [] xref: UMLS:C0039093 xref: UMLS:C0039316 xref: UMLS:C0391889 xref: UMLS:C1314939 xref: UMLS:C1368355 xref: UMLS:C1406822 xref: UMLS:C1834164 xref: UMLS:C1836196 xref: UMLS:C1848944 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 ossification of tarsal bones namespace: medical_genetics xref: UMLS:C0039316 xref: UMLS:C0231557 is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0010675 ! Abnormality of the mineralisation and ossification of bones of the feet created_by: peter creation_date: 2008-04-04T11:53:00Z [Term] id: HP:0008371 name: Abnormal ossification involving metatarsal bones namespace: medical_genetics 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:curators] xref: UMLS:C0025584 xref: UMLS:C0231557 xref: UMLS:C1314939 is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0010675 ! Abnormality of the mineralisation and ossification of bones of the feet created_by: peter creation_date: 2008-04-04T11:59:00Z [Term] id: HP:0008372 name: Abnormality of vitamin A metabolism namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1159432 xref: UMLS:C1704258 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 namespace: medical_genetics alt_id: HP:0000827 xref: UMLS:C0018050 xref: UMLS:C0034011 is_a: HP:0000818 ! Abnormality of the endocrine system created_by: peter creation_date: 2008-04-04T12:35:00Z [Term] id: HP:0008374 name: Weak, high-pitched voice namespace: medical_genetics alt_id: HP:0008379 synonym: "Small, high-pitched voice" EXACT [] xref: UMLS:C0004093 xref: UMLS:C0241703 xref: UMLS:C0700321 xref: UMLS:C1762617 xref: UMLS:C1883552 is_a: HP:0001620 ! High pitched voice [Term] id: HP:0008375 name: Vocal impairment, severe, due to laryngeal cartilage abnormalities namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0023050 xref: UMLS:C0205082 xref: UMLS:C0205382 xref: UMLS:C0684336 xref: UMLS:C1280673 xref: UMLS:C1519275 is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0008376 name: Nasal, dysarthic speech namespace: medical_genetics xref: UMLS:C1839742 is_a: HP:0001260 ! Dysarthria [Term] id: HP:0008377 name: High-pitched, coarse voice namespace: medical_genetics xref: UMLS:C0205194 xref: UMLS:C0241703 is_a: HP:0001620 ! High pitched voice [Term] id: HP:0008378 name: Harsh, quivering, high-pitched, weak voice namespace: medical_genetics xref: UMLS:C0234804 xref: UMLS:C0241703 xref: UMLS:C1527384 xref: UMLS:C2202985 is_a: HP:0001620 ! High pitched voice [Term] id: HP:0008380 name: Tubular nails, fifth fingers namespace: medical_genetics xref: UMLS:C0027342 xref: UMLS:C0151747 xref: UMLS:C0230403 xref: UMLS:C0332208 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008382 name: Dystrophic thickened nails namespace: medical_genetics xref: UMLS:C0205400 xref: UMLS:C0221260 xref: UMLS:C0240444 xref: UMLS:C0333607 is_a: HP:0001805 ! Thickened nails [Term] id: HP:0008383 name: Slow-growing nails namespace: medical_genetics xref: UMLS:C1835238 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008384 name: Aplastic/hypoplastic fingernails namespace: medical_genetics alt_id: HP:0007593 synonym: "Absent or hypoplastic fingernails" EXACT [] synonym: "Absent/hypoplastic finger nails" EXACT [] synonym: "Hypoplastic/aplastic fingernails" EXACT [] xref: UMLS:C0222001 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1856786 is_a: HP:0001231 ! Abnormality of the fingernails is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0008386 name: Aplasia/Hypoplasia of the nails namespace: medical_genetics alt_id: HP:0008385 def: "`Aplasia` (MPATH:58) or developmental hypoplasia of the `nail` (FMA:54326)." [HPO:probinson] synonym: "Absent/hypoplastic nails" EXACT [] synonym: "Nail aplasia/hypoplasia" EXACT [] xref: UMLS:C0027342 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0444077 xref: UMLS:C0543481 xref: UMLS:C1847195 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008387 name: Nail dysplasia/aplasia namespace: medical_genetics xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1834405 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008388 name: Abnormality of the toenails namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0222007 xref: UMLS:C1704258 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008390 name: Recurrent loss of toenails and fingernails namespace: medical_genetics xref: UMLS:C0034897 xref: UMLS:C0222001 xref: UMLS:C0222007 xref: UMLS:C1517945 is_a: HP:0001231 ! Abnormality of the fingernails [Term] id: HP:0008391 name: Mildly dystrophic fingernails namespace: medical_genetics xref: UMLS:C0222001 xref: UMLS:C0333607 xref: UMLS:C0547040 xref: UMLS:C0750532 is_a: HP:0001231 ! Abnormality of the fingernails is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008392 name: Subungual hyperkeratosis namespace: medical_genetics xref: UMLS:C0038605 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0009723 ! Abnormality of the subungual region [Term] id: HP:0008393 name: Congenital curved nail, fourth toe namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C1261102 xref: UMLS:C1744681 xref: UMLS:C1863319 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008394 name: Congenital onychodystrophy namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0221260 xref: UMLS:C1744681 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008395 name: Onychogryphosis of large toenails namespace: medical_genetics alt_id: HP:0008405 synonym: "Severe onychogryposis, esp the great toes" EXACT [] xref: UMLS:C0015373 xref: UMLS:C0018534 xref: UMLS:C0037747 xref: UMLS:C0205082 xref: UMLS:C0222007 xref: UMLS:C0263537 xref: UMLS:C0549177 xref: UMLS:C1281588 xref: UMLS:C1421982 xref: UMLS:C1519275 is_a: HP:0001819 ! Onychogryposis [Term] id: HP:0008396 name: Chronic monilial nail infection namespace: medical_genetics xref: UMLS:C0006836 xref: UMLS:C0006840 xref: UMLS:C0027342 xref: UMLS:C0151317 xref: UMLS:C0205191 xref: UMLS:C0343026 xref: UMLS:C0444077 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008397 name: Small fissured dystrophic nails namespace: medical_genetics xref: UMLS:C0221260 xref: UMLS:C0332469 xref: UMLS:C0333607 xref: UMLS:C0700321 xref: UMLS:C1856473 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008398 name: Hypoplastic to absent fifth finger- and toenails namespace: medical_genetics xref: UMLS:C0205439 xref: UMLS:C0222007 xref: UMLS:C0230403 xref: UMLS:C0332197 xref: UMLS:C0543481 xref: UMLS:C0728895 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0008399 name: Circumungual hyperkeratosis namespace: medical_genetics xref: UMLS:C0870082 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008400 name: Onycholysis of distal fingernails namespace: medical_genetics xref: UMLS:C0085661 xref: UMLS:C0205108 xref: UMLS:C0222001 is_a: HP:0001231 ! Abnormality of the fingernails is_a: HP:0001806 ! Onycholysis [Term] id: HP:0008401 name: Onychogryposis of toenails namespace: medical_genetics xref: UMLS:C0222007 xref: UMLS:C0263537 is_a: HP:0001819 ! Onychogryposis [Term] id: HP:0008402 name: Longitudinally grooved fingernails namespace: medical_genetics xref: UMLS:C0205127 xref: UMLS:C0222001 xref: UMLS:C1184482 is_a: HP:0001231 ! Abnormality of the fingernails [Term] id: HP:0008403 name: Onychodysplasia may be present namespace: medical_genetics xref: UMLS:C0150312 xref: UMLS:C0449450 xref: UMLS:C1857047 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008404 name: Nail dystrophy, variable namespace: medical_genetics xref: UMLS:C0221260 xref: UMLS:C0439828 xref: UMLS:C1705098 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008406 name: Short and broad fingernails namespace: medical_genetics xref: UMLS:C1806781 xref: UMLS:C1843112 xref: UMLS:C2350002 is_a: HP:0001231 ! Abnormality of the fingernails is_a: HP:0001799 ! Short nails is_a: HP:0001821 ! Broad nails [Term] id: HP:0008407 name: Hyperconvex thumb nails namespace: medical_genetics xref: UMLS:C1855290 is_a: HP:0001795 ! Hyperconvex nails [Term] id: HP:0008408 name: Onychodystrophy, severe namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0221260 xref: UMLS:C1519275 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008409 name: Absent/dysplastic nails namespace: medical_genetics xref: UMLS:C0332197 xref: UMLS:C1837412 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008410 name: Subungual hyperkeratotic fragments namespace: medical_genetics xref: UMLS:C0038605 xref: UMLS:C0486805 is_a: HP:0000962 ! Hyperkeratosis is_a: HP:0009723 ! Abnormality of the subungual region [Term] id: HP:0008411 name: Short, thin, slow growing nails namespace: medical_genetics xref: UMLS:C0205168 xref: UMLS:C1806781 xref: UMLS:C1835238 xref: UMLS:C2350002 is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0008412 name: Small, dysplastic nails namespace: medical_genetics xref: UMLS:C0334045 xref: UMLS:C0700321 xref: UMLS:C1837412 xref: UMLS:C1856473 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008413 name: Nail dystrophy with overcurvature namespace: medical_genetics xref: UMLS:C0221260 is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008414 name: Lumbar kyphosis in infancy namespace: medical_genetics xref: UMLS:C0022821 xref: UMLS:C0022822 xref: UMLS:C0024090 xref: UMLS:C0231330 xref: UMLS:C0265673 is_a: HP:0008454 ! Lumbar kyphosis [Term] id: HP:0008416 name: Six lumbar vertebrae namespace: medical_genetics xref: UMLS:C1839279 is_a: HP:0002946 ! Supernumerary vertebrae [Term] id: HP:0008417 name: Vertebral hypoplasia namespace: medical_genetics alt_id: HP:0008431 synonym: "Underdeveloped vertebrae" EXACT [] xref: UMLS:C0549207 xref: UMLS:C1834047 is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008418 name: Squared-off platyspondyly namespace: medical_genetics xref: UMLS:C0205120 xref: UMLS:C1865023 is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0008419 name: Degeneration of intervertebral disks namespace: medical_genetics def: "The presence of `degenerative changes` (PATO:0002037) of `intervertebral disk` (FMA:10446)." [HPO:probinson] xref: UMLS:C0011164 xref: UMLS:C0021815 xref: UMLS:C1880269 is_a: HP:0005108 ! Abnormality of the intervertebral disk [Term] id: HP:0008420 name: Vertebral calcifications namespace: medical_genetics xref: UMLS:C1844842 is_a: HP:0003468 ! Abnormality of the vertebrae is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0008421 name: Tall lumbar vertebral bodies namespace: medical_genetics xref: UMLS:C1863313 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008422 name: Wedge-shaped vertebrae namespace: medical_genetics xref: UMLS:C1411176 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008423 name: Spinal dysplasia namespace: medical_genetics def: "The presence of `developmental dysplasia` (MPATH:64) of the `vertebral column` (FMA:13478)." [HPO:probinson] xref: UMLS:C0334044 xref: UMLS:C0521329 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008424 name: Hypoplastic 5th lumbar vertebrae namespace: medical_genetics xref: UMLS:C1859366 is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae [Term] id: HP:0008425 name: Cuboid-shaped thoracolumbar vertebral bodies namespace: medical_genetics xref: UMLS:C1855289 is_a: HP:0004634 ! Cuboid-shaped vertebral bodies [Term] id: HP:0008428 name: Vertebral clefts namespace: medical_genetics synonym: "Vertebral clefting" EXACT [] xref: UMLS:C1855828 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008429 name: Small, flat cervical vertebrae namespace: medical_genetics xref: UMLS:C0205064 xref: UMLS:C0205324 xref: UMLS:C0457933 xref: UMLS:C0700321 xref: UMLS:C0728985 xref: UMLS:C1863353 is_a: HP:0004629 ! small cervical vertebral bodies [Term] id: HP:0008430 name: Mild anterior beaking of lumbar vertebrae namespace: medical_genetics xref: UMLS:C0024091 xref: UMLS:C0205094 xref: UMLS:C0547040 is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0008432 name: Anterior wedging of l1 and l2 namespace: medical_genetics xref: UMLS:C0441918 xref: UMLS:C1179698 xref: UMLS:C1179699 xref: UMLS:C1825810 xref: UMLS:C1970084 is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0008433 name: Reversed usual vertebral column curves namespace: medical_genetics xref: UMLS:C0037949 xref: UMLS:C0205134 xref: UMLS:C1267072 xref: UMLS:C1555029 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008434 name: Hypoplastic cervical vertebrae namespace: medical_genetics alt_id: HP:0008415 synonym: "Cervical vertebrae hypoplasia" EXACT [] xref: UMLS:C1835570 xref: UMLS:C1857265 is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine [Term] id: HP:0008435 name: Absent in utero ossification of vertebral bodies namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0042149 xref: UMLS:C0223084 xref: UMLS:C0332197 is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0004606 ! Unossified vertebral bodies is_a: HP:0100569 ! Abnormality of ossification/mineralisation of vertebrae [Term] id: HP:0008436 name: Absent/hypoplastic coccyx namespace: medical_genetics xref: UMLS:C0009194 xref: UMLS:C0332197 xref: UMLS:C0543481 xref: UMLS:C1279101 is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum [Term] id: HP:0008437 name: Bifid thoracic vertebrae namespace: medical_genetics xref: UMLS:C1860250 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008438 name: Vertebral arch abnormalities namespace: medical_genetics xref: UMLS:C1835764 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008439 name: Lumbar hemivertebrae namespace: medical_genetics xref: UMLS:C0432149 is_a: HP:0002937 ! Hemivertebrae [Term] id: HP:0008440 name: C1-C2 vertebral abnormality namespace: medical_genetics def: "Any abnormality of the `atlas` (FMA:12519) and the `axis` (FMA:12520)." [HPO:probinson] comment: The atlas is the first cervical vertebral body and the axis is the second vertebral body. xref: UMLS:C1834129 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008441 name: Herniation of intervertebral nuclei namespace: medical_genetics def: "The presence of one or more `herniated` (PATO:0000643) `nucleus pulposus of intervertebral disk` (FMA:13550)." [HPO:probinson] synonym: "Herniated intervertebral nuclei" EXACT [] xref: UMLS:C1832597 is_a: HP:0005108 ! Abnormality of the intervertebral disk [Term] id: HP:0008442 name: Vertebral hyperostosis namespace: medical_genetics def: "Excessive growth of the bones of the vertebral bodies." [HPO:curators] xref: UMLS:C1834057 is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0008443 name: Spinal deformities namespace: medical_genetics xref: UMLS:C0575157 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008444 name: Posterior wedging of vertebral bodies namespace: medical_genetics xref: UMLS:C0223084 xref: UMLS:C1969394 is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0008445 name: Narrow cervical spinal canal namespace: medical_genetics xref: UMLS:C0223104 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1278637 is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0008446 name: Spinal stenosis namespace: medical_genetics xref: UMLS:C0037944 is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008447 name: Hypoplastic coccygeal vertebrae namespace: medical_genetics xref: UMLS:C0223616 xref: UMLS:C0543481 is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008448 name: Mild interpedicular narrowing namespace: medical_genetics xref: UMLS:C1865195 is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008449 name: Progressive cervical vertebral spine fusion namespace: medical_genetics xref: UMLS:C1851129 is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0008450 name: Narrow vertebral interpedicular distance namespace: medical_genetics alt_id: HP:0008426 alt_id: HP:0008474 def: "A narrowing 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 verterbral body, at the junction of its posterior and lateral surfaces." [HPO:curators] synonym: "Narrow interpedicular space" EXACT [] synonym: "Narrow interpediculate distances" EXACT [] synonym: "Narrowing of interpediculate distances" EXACT [] xref: UMLS:C0012751 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C0549207 xref: UMLS:C1883067 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008451 name: Posterior vertebral hypoplasia namespace: medical_genetics xref: UMLS:C1856780 is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008452 name: Wafer-thin platyspondyly namespace: medical_genetics xref: UMLS:C1865124 is_a: HP:0004565 ! severe platyspondyly [Term] id: HP:0008453 name: Congenital kyphoscoliosis namespace: medical_genetics xref: UMLS:C0345392 is_a: HP:0002751 ! Kyphoscoliosis [Term] id: HP:0008454 name: Lumbar kyphosis namespace: medical_genetics alt_id: HP:0008487 synonym: "Lumbar gibbus deformity" EXACT [] synonym: "Lumbar kyphosis" EXACT [] xref: UMLS:C0022821 xref: UMLS:C0022822 xref: UMLS:C0024090 xref: UMLS:C0265673 xref: UMLS:C1844818 is_a: HP:0002808 ! Kyphosis is_a: HP:0005619 ! Thoracolumbar kyphosis [Term] id: HP:0008455 name: Dysplastic sacrum namespace: medical_genetics xref: UMLS:C1851305 is_a: HP:0005107 ! Abnormality of the sacrum [Term] id: HP:0008456 name: C2-C3 subluxation namespace: medical_genetics def: "A `partial dislocation` (PATO:0002157) of the `intervertebral joint between the second and third cervical vertebrae` (FMA:25057)." [HPO:probinson] xref: UMLS:C1848940 is_a: HP:0003308 ! Cervical subluxation [Term] id: HP:0008457 name: Caudal narrowing of interpedicular distances namespace: medical_genetics xref: UMLS:C0012751 xref: UMLS:C0205097 xref: UMLS:C0332463 is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008458 name: Congenital scoliosis, progressive namespace: medical_genetics xref: UMLS:C0205329 xref: UMLS:C0559260 is_a: HP:0002650 ! Scoliosis [Term] id: HP:0008459 name: Cervical vertebral agenesis namespace: medical_genetics def: "`Agenesis` (MPATH:57) of one or more vertebrae of the `cervical vertebral column` (FMA:24138)." [HPO:probinson] synonym: "Cervical vertebrae agenesis" EXACT [] xref: UMLS:C0000846 xref: UMLS:C0332907 xref: UMLS:C0728985 xref: UMLS:C2119045 is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine [Term] id: HP:0008460 name: Hypoplastic spinal processes namespace: medical_genetics xref: UMLS:C0521329 xref: UMLS:C0543481 xref: UMLS:C1184743 xref: UMLS:C1522240 xref: UMLS:C1951340 is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008461 name: Cervical vertebral facet hypoplasia namespace: medical_genetics xref: UMLS:C0205064 xref: UMLS:C0222679 xref: UMLS:C1834047 is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine [Term] id: HP:0008462 name: Cervical instability namespace: medical_genetics xref: UMLS:C1863314 is_a: HP:0005881 ! Spinal instability [Term] id: HP:0008463 name: Central vertebral hypoplasia namespace: medical_genetics xref: UMLS:C0205099 xref: UMLS:C1834047 xref: UMLS:C1879652 is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008464 name: Absent spinous processes of lower thoracic and lumbar vertebrae namespace: medical_genetics xref: UMLS:C0024091 xref: UMLS:C0332197 xref: UMLS:C0441994 xref: UMLS:C1184743 xref: UMLS:C1522240 xref: UMLS:C1709694 xref: UMLS:C1951340 is_a: HP:0008516 ! Abnormality of the vertebral spinous processes [Term] id: HP:0008465 name: Absent vertebrae namespace: medical_genetics xref: UMLS:C0158776 is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae [Term] id: HP:0008467 name: Thoracic hemivertebrae namespace: medical_genetics alt_id: HP:0004604 synonym: "Midthoracic hemivertebrae" NARROW [] xref: UMLS:C0265677 xref: UMLS:C0432152 is_a: HP:0002937 ! Hemivertebrae [Term] id: HP:0008468 name: Abnormal sacral segmentation namespace: medical_genetics xref: UMLS:C1968942 is_a: HP:0003422 ! Vertebral segmentation defects [Term] id: HP:0008469 name: Cervical vertebral dysplasia namespace: medical_genetics def: "`Dysplasia` (MPATH:589) of the `cervical vertebral column` (FMA:24138)." [HPO:probinson] xref: UMLS:C1861693 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008470 name: Narrowness of interpediculate distances in lower thoracic regions namespace: medical_genetics xref: UMLS:C0012751 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C0556957 is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008471 name: Vertebral bodies show complete fusion namespace: medical_genetics xref: UMLS:C0205197 xref: UMLS:C0223084 xref: UMLS:C0332466 xref: UMLS:C0725685 xref: UMLS:C1293131 xref: UMLS:C1547282 is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0008472 name: Prominent protruding coccyx namespace: medical_genetics xref: UMLS:C1850044 is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0008473 name: Narrow anterio-posterior vertebral body diameter namespace: medical_genetics def: "An abnormal reduction of the anterioposterior diameter of the `vertebral body` (FMA:11945)." [HPO:probinson] xref: UMLS:C0205095 xref: UMLS:C0223084 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1301886 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008475 name: Hypoplastic sacral vertebrae namespace: medical_genetics xref: UMLS:C0543481 xref: UMLS:C1261045 is_a: HP:0004590 ! Hypoplastic sacrum [Term] id: HP:0008476 name: Irregular sclerotic endplates namespace: medical_genetics alt_id: HP:0004624 synonym: "irregular, dense end plate" EXACT [] xref: UMLS:C0036429 xref: UMLS:C0334135 xref: UMLS:C0439794 xref: UMLS:C1856905 xref: UMLS:C1864292 is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0008477 name: Hypoplastic, poorly ossified cervical vertebrae namespace: medical_genetics xref: UMLS:C0205169 xref: UMLS:C0231556 xref: UMLS:C0543481 xref: UMLS:C0728985 is_a: HP:0011041 ! Aplasia/Hypoplasia of the cervical spine [Term] id: HP:0008478 name: Scheuermann-like vertebral changes namespace: medical_genetics xref: UMLS:C0036310 xref: UMLS:C0392747 xref: UMLS:C0549207 xref: UMLS:C1705241 is_a: HP:0010891 ! Scheuermann disease [Term] id: HP:0008479 name: Hypoplastic vertebral bodies namespace: medical_genetics xref: UMLS:C1850294 is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008480 name: Cervical spondylosis namespace: medical_genetics def: "The presence of `arthrosis` (MPATH:27), i.e., of degenerative joint disease, affecting the `cervical vertebral column` (FMA:24138)." [HPO:probinson] xref: UMLS:C1384641 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008481 name: Mild odontoid hypoplasia namespace: medical_genetics def: "A `mild` (PATO:0000394) form of developmental hypoplasia of the `dens of the axis` (FMA:24043)." [HPO:probinson] xref: UMLS:C1848100 is_a: HP:0003311 ! Hypoplasia of the odontoid process [Term] id: HP:0008482 name: Asymmetry of spinal facet joints namespace: medical_genetics xref: UMLS:C0224521 xref: UMLS:C0332514 xref: UMLS:C0521329 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008483 name: Cervical vertebral bodies with decreased anteroposterior diameter namespace: medical_genetics xref: UMLS:C0223098 xref: UMLS:C0332519 xref: UMLS:C1305450 is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008484 name: Narrow thoracolumbar interpediculate distance namespace: medical_genetics xref: UMLS:C1864364 is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008486 name: Decreasing lumbar vertebrae interpediculate distance namespace: medical_genetics xref: UMLS:C0012751 xref: UMLS:C0024091 xref: UMLS:C0442797 is_a: HP:0008450 ! Narrow vertebral interpedicular distance [Term] id: HP:0008488 name: Anterior rounding of vertebral bodies namespace: medical_genetics xref: UMLS:C0205094 xref: UMLS:C0223084 xref: UMLS:C0332490 is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008489 name: Spondylolisthesis of l5 on s1 namespace: medical_genetics xref: UMLS:C0038016 xref: UMLS:C1969618 is_a: HP:0003302 ! Spondylolisthesis [Term] id: HP:0008490 name: Sacral segmentation defects namespace: medical_genetics xref: UMLS:C1850329 is_a: HP:0003422 ! Vertebral segmentation defects [Term] id: HP:0008491 name: Premature anterior fontanel closure namespace: medical_genetics xref: UMLS:C0205094 xref: UMLS:C1849943 is_a: HP:0001363 ! Craniosynostosis [Term] id: HP:0008492 name: Premature craniosynostosis namespace: medical_genetics xref: UMLS:C0010278 xref: UMLS:C0205252 xref: UMLS:C1442871 is_a: HP:0001363 ! Craniosynostosis [Term] id: HP:0008493 name: Low, sloping forehead namespace: medical_genetics def: "The presence of a forehead with reduced height that additionally demonstrates top-to-bottom sloping in the anterior direction." [HPO:curators] xref: UMLS:C0205251 xref: UMLS:C1299352 xref: UMLS:C1550472 xref: UMLS:C1857679 is_a: HP:0000340 ! Sloping forehead [Term] id: HP:0008494 name: Inferior lens subluxation namespace: medical_genetics xref: UMLS:C0023316 xref: UMLS:C0542339 xref: UMLS:C0678975 is_a: HP:0001132 ! Lens subluxation [Term] id: HP:0008495 name: Visual impairment from optic nerve compression namespace: medical_genetics xref: UMLS:C0042798 xref: UMLS:C0271344 is_a: HP:0007807 ! Optic nerve compression [Term] id: HP:0008496 name: Multiple rows of eyelashes namespace: medical_genetics xref: UMLS:C0015422 xref: UMLS:C0439064 xref: UMLS:C1552840 is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0008497 name: Congenital craniofacial dysostosis namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0010273 xref: UMLS:C1744681 is_a: HP:0004439 ! Craniofacial dysostosis [Term] id: HP:0008498 name: No permanent dentition namespace: medical_genetics xref: UMLS:C0348070 is_a: HP:0000696 ! Delayed eruption of secondary teeth [Term] id: HP:0008499 name: High-grade hypermetropia namespace: medical_genetics xref: UMLS:C0020490 xref: UMLS:C0205082 is_a: HP:0000540 ! Hypermetropia [Term] id: HP:0008500 name: Sloping, narrow forehead namespace: medical_genetics xref: UMLS:C0807955 xref: UMLS:C1839127 is_a: HP:0000340 ! Sloping forehead is_a: HP:0000341 ! Narrow forehead [Term] id: HP:0008501 name: Median cleft lip/palate namespace: medical_genetics 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 [] xref: UMLS:C0332464 xref: UMLS:C0432079 xref: UMLS:C0700374 xref: UMLS:C1278914 xref: UMLS:C1850256 xref: UMLS:C1854999 is_a: HP:0000202 ! Cleft lip/palate [Term] id: HP:0008502 name: Slight corneal clouding namespace: medical_genetics xref: UMLS:C1854973 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0008504 name: Moderate sensorineural hearing impairment namespace: medical_genetics def: "The presence of a `moderate` (PATO:0000395) form of `sensorineural hearing impairment` (HP:0000407)." [HPO:probinson] synonym: "Moderate neural deafness" RELATED [] xref: UMLS:C0155550 xref: UMLS:C0205081 xref: UMLS:C1881878 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008505 name: Bowed and upward slanting eyebrows namespace: medical_genetics xref: UMLS:C0015420 xref: UMLS:C0544755 xref: UMLS:C1282911 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0008506 name: Central retinitis pigmentosa namespace: medical_genetics xref: UMLS:C0035334 xref: UMLS:C0205099 xref: UMLS:C1879652 is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0008507 name: Static ophthalmoparesis namespace: medical_genetics xref: UMLS:C0441463 xref: UMLS:C0751401 is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0008509 name: Aged leonine appearance namespace: medical_genetics xref: UMLS:C0001779 xref: UMLS:C0001792 xref: UMLS:C0233426 xref: UMLS:C0700364 is_a: HP:0007495 ! Prematurely aged appearance [Term] id: HP:0008510 name: Narrow retinal arterioles namespace: medical_genetics xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C0580762 is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0008511 name: Central posterior corneal opacities namespace: medical_genetics xref: UMLS:C0423260 is_a: HP:0000515 ! Corneal opacity [Term] id: HP:0008512 name: Plagiobrachycephaly namespace: medical_genetics is_a: HP:0000248 ! Brachycephaly [Term] id: HP:0008513 name: Bilateral conductive deafness namespace: medical_genetics def: "A `bilateral` (PATO:0000618) type of `conductive deafness` (HP:0000367)." [HPO:probinson] xref: UMLS:C0018777 xref: UMLS:C0238767 is_a: HP:0000367 ! Conductive deafness [Term] id: HP:0008515 name: Aplasia/Hypoplasia of the vertebrae namespace: medical_genetics xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0549207 is_a: HP:0003468 ! Abnormality of the vertebrae created_by: peter creation_date: 2008-04-04T02:30:00Z [Term] id: HP:0008516 name: Abnormality of the vertebral spinous processes namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1305416 xref: UMLS:C1704258 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 namespace: medical_genetics def: "`Aplasia` (MPATH:58) or developmental hypoplasia of the `sacral bone` (FMA:16202)." [HPO:probinson] xref: UMLS:C0036037 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1269542 is_a: HP:0005107 ! Abnormality of the sacrum is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column created_by: peter creation_date: 2008-04-04T02:32:00Z [Term] id: HP:0008518 name: Aplasia/Hypoplasia involving the vertebral column namespace: medical_genetics xref: UMLS:C0037949 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1267072 xref: UMLS:C1314939 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 namespace: medical_genetics alt_id: HP:0002830 def: "An abnormality of the `coccyx` (FMA:20229)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0009194 xref: UMLS:C1279101 xref: UMLS:C1704258 is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0002644 ! Abnormality of the pelvis created_by: peter creation_date: 2008-04-04T02:41:00Z [Term] id: HP:0008522 name: High-frequency deafness namespace: medical_genetics xref: UMLS:C0018780 is_a: HP:0005101 ! High-frequency hearing impairment [Term] id: HP:0008523 name: Pits in posterior aspect of ear helices namespace: medical_genetics xref: UMLS:C0013443 xref: UMLS:C0018882 xref: UMLS:C0175697 xref: UMLS:C0205095 xref: UMLS:C0229304 xref: UMLS:C0521421 xref: UMLS:C1547011 xref: UMLS:C1704821 xref: UMLS:C1705682 xref: UMLS:C1879746 is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0008524 name: Chronic ear infection namespace: medical_genetics xref: UMLS:C0013443 xref: UMLS:C0151317 xref: UMLS:C0205191 xref: UMLS:C0521421 xref: UMLS:C0699744 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0000388 ! Otitis media [Term] id: HP:0008525 name: Congenital conductive deafness namespace: medical_genetics def: "A type of `conductive deafness` (HP:0000367) with `congenital onset` (HP:0003577)." [HPO:probinson] xref: UMLS:C0009678 xref: UMLS:C0018777 xref: UMLS:C1744681 is_a: HP:0000367 ! Conductive deafness [Term] id: HP:0008526 name: Vestibular areflexia, complete namespace: medical_genetics xref: UMLS:C0042606 xref: UMLS:C0205197 xref: UMLS:C0234146 xref: UMLS:C0725685 xref: UMLS:C1321513 xref: UMLS:C1735318 is_a: HP:0007670 ! Abnormal vestibuloocular reflex [Term] id: HP:0008527 name: Congenital sensorineural hearing impairment namespace: medical_genetics alt_id: HP:0008543 alt_id: HP:0008546 alt_id: HP:0008612 def: "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)." [HPO:probinson] synonym: "Congenital sensorineural hearing loss" EXACT [] synonym: "Hearing loss, congenital sensorineural" EXACT [] xref: UMLS:C0009678 xref: UMLS:C0205081 xref: UMLS:C0205082 xref: UMLS:C1384666 xref: UMLS:C1519275 xref: UMLS:C1744681 xref: UMLS:C1865866 xref: UMLS:C1881878 xref: UMLS:C2029884 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008528 name: Long hairs growing from helix of pinna namespace: medical_genetics xref: UMLS:C0013453 xref: UMLS:C0018494 xref: UMLS:C0018882 xref: UMLS:C0205166 xref: UMLS:C0229304 xref: UMLS:C0928075 xref: UMLS:C1047272 xref: UMLS:C1704821 xref: UMLS:C1705682 xref: UMLS:C1706219 xref: UMLS:C1706317 is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0008529 name: Absent middle ear reflexes namespace: medical_genetics xref: UMLS:C1836748 is_a: HP:0004454 ! abnormal middle ear reflexes [Term] id: HP:0008530 name: Bilateral sensorineural deafness namespace: medical_genetics alt_id: HP:0008539 def: "A `bilateral` (PATO:0000618) form of `sensorineural deafness` (HP:0008538)." [HPO:probinson] synonym: "Bilateral nerve deafness" EXACT [] xref: UMLS:C0027740 xref: UMLS:C0155550 xref: UMLS:C0238767 xref: UMLS:C0581883 xref: UMLS:C1280541 is_a: HP:0008538 ! Sensorineural deafness [Term] id: HP:0008531 name: Simple, cup-shaped ears namespace: medical_genetics xref: UMLS:C0205352 xref: UMLS:C1864799 is_a: HP:0000378 ! Cup-shaped ears [Term] id: HP:0008535 name: Small, posteriorly rotated ears namespace: medical_genetics xref: UMLS:C0431478 xref: UMLS:C0700321 is_a: HP:0000358 ! Posteriorly rotated ears [Term] id: HP:0008536 name: Bilateral conductive hearing loss namespace: medical_genetics def: "A `bilateral` (PATO:0000618) type of `conductive hearing impairment` (HP:0000405)." [HPO:probinson] xref: UMLS:C0452136 is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0008537 name: Cleft at the superior portion of the pinna namespace: medical_genetics xref: UMLS:C0013453 xref: UMLS:C0205242 xref: UMLS:C0449719 xref: UMLS:C0928075 xref: UMLS:C1047272 xref: UMLS:C1282910 xref: UMLS:C1706219 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0008538 name: Sensorineural deafness namespace: medical_genetics alt_id: HP:0008565 def: "A complete `absence` ( PATO:0000462) of the ability for `sensory perception of sound` (GO:0007605) in one or both ears related to an `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cochlear nerve` (FMA:53431)." [HPO:probinson] synonym: "Deafness, sensorineural, profound" EXACT [] synonym: "Profound sensorineural hearing loss" EXACT [] xref: UMLS:C0011053 xref: UMLS:C0439808 xref: UMLS:C0581883 xref: UMLS:C1848641 is_a: HP:0000404 ! Deafness is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008540 name: Bilateral congenital sensorineural deafness namespace: medical_genetics def: "A `bilateral` (PATO:0000618) form of `congenital sensorineural deafness` (HP:0008620)." [HPO:probinson] synonym: "Hearing loss, sensorineural, bilateral profound congenital" EXACT [] xref: UMLS:C0009678 xref: UMLS:C0238767 xref: UMLS:C0439808 xref: UMLS:C1384666 xref: UMLS:C1744681 xref: UMLS:C2029884 is_a: HP:0008620 ! Congenital sensorineural deafness [Term] id: HP:0008541 name: Superiorly displaced ears namespace: medical_genetics xref: UMLS:C1850190 is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0008542 name: Low-frequency hearing loss namespace: medical_genetics def: "A type of `hearing impairment` (HP:0000365) affecting primarily the low frequencies of sound (125 Hz to 1000 Hz)." [HPO:probinson] synonym: "Low-frequency hearing loss" EXACT [] xref: UMLS:C0205213 xref: UMLS:C1384666 xref: UMLS:C2029884 is_a: HP:0000365 ! Hearing impairment [Term] id: HP:0008544 name: Abnormally folded helix namespace: medical_genetics xref: UMLS:C1970777 is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0008549 name: Progressive cartilaginous ossification of pinnae namespace: medical_genetics def: "`Cartilaginous ossification of pinnae` (HP:0005103) that is progressive." [HPO:probinson] xref: UMLS:C0013453 xref: UMLS:C0205329 xref: UMLS:C0231561 xref: UMLS:C0928075 xref: UMLS:C1047272 xref: UMLS:C1706219 is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0005103 ! Cartilaginous ossification of pinnae [Term] id: HP:0008550 name: Bilateral microtia namespace: medical_genetics xref: UMLS:C1857077 is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear [Term] id: HP:0008551 name: Hypoplasia of the external ear namespace: medical_genetics alt_id: HP:0000409 def: "Underdevelopment of the `external ear` (FMA:52781)." [HPO:probinson] synonym: "Small ears" EXACT [] synonym: "Small pinnae" EXACT [] synonym: "Underdeveloped ears" EXACT [] xref: UMLS:C0584784 xref: UMLS:C1835638 xref: UMLS:C1864797 is_a: HP:0000377 ! Abnormality of the pinna is_a: HP:0008772 ! Aplasia/Hypoplasia of the external ear [Term] id: HP:0008554 name: Cochlear malformation namespace: medical_genetics def: "The presence of a `malformed` (PATO:0000646) `cochlea` (FMA:60201)." [HPO:probinson] comment: A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two. xref: UMLS:C1862050 is_a: HP:0000375 ! Abnormality of cochlea [Term] id: HP:0008555 name: Absent vestibular function namespace: medical_genetics xref: UMLS:C0332197 xref: UMLS:C2370946 is_a: HP:0001756 ! Vestibular hypofunction [Term] id: HP:0008557 name: Neonatal cystic lesions of the pinnae namespace: medical_genetics xref: UMLS:C0013453 xref: UMLS:C0021289 xref: UMLS:C0928075 xref: UMLS:C1047272 xref: UMLS:C1511606 xref: UMLS:C1552240 xref: UMLS:C1552264 xref: UMLS:C1706219 is_a: HP:0010723 ! Cystic lesions of the pinnae [Term] id: HP:0008559 name: Hypoplastic superior helix namespace: medical_genetics alt_id: HP:0008627 synonym: "Underdeveloped superior helices" EXACT [] xref: UMLS:C0018882 xref: UMLS:C0229304 xref: UMLS:C1282910 xref: UMLS:C1704821 xref: UMLS:C1705682 xref: UMLS:C1862057 is_a: HP:0008589 ! Hypoplastic helices [Term] id: HP:0008562 name: Poorly formed pinnae namespace: medical_genetics alt_id: HP:0008602 synonym: "Poorly defined conchae" EXACT [] xref: UMLS:C1851304 xref: UMLS:C1852610 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0008564 name: External auditory canal stenosis/atresia namespace: medical_genetics xref: UMLS:C0243066 xref: UMLS:C0395837 xref: UMLS:C2119047 is_a: HP:0000402 ! Stenotic external auditory canal [Term] id: HP:0008568 name: Vestibular areflexia namespace: medical_genetics xref: UMLS:C0042606 xref: UMLS:C0234146 xref: UMLS:C1321513 xref: UMLS:C1735318 is_a: HP:0007670 ! Abnormal vestibuloocular reflex [Term] id: HP:0008569 name: Small, malformed ears namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0243070 xref: UMLS:C1864797 is_a: HP:0000377 ! Abnormality of the pinna is_a: HP:0008551 ! Hypoplasia of the external ear [Term] id: HP:0008570 name: Hypoplastic, overfolded helices namespace: medical_genetics def: "A condition in which the `helix` (FMA:60992) displays developmental hypoplasia and is `folded` (PATO:0001910) over to a greater degree than normal." [HPO:probinson] xref: UMLS:C0543481 xref: UMLS:C1864798 is_a: HP:0000396 ! Overfolded helix [Term] id: HP:0008572 name: External ear malformation namespace: medical_genetics def: "A malformation of the `auricle of the ear` (FMA:56580)." [HPO:probinson] xref: UMLS:C1846460 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008573 name: Progressive, low-frequency sensorineural hearing loss namespace: medical_genetics xref: UMLS:C0205213 xref: UMLS:C1843156 is_a: HP:0000408 ! Progressive sensorineural hearing impairment [Term] id: HP:0008574 name: Severe early sensorineural hearing loss namespace: medical_genetics xref: UMLS:C0018784 xref: UMLS:C0205082 xref: UMLS:C1279919 xref: UMLS:C1519275 is_a: HP:0008625 ! Severe sensorineural hearing impairment [Term] id: HP:0008577 name: Poorly folded helices namespace: medical_genetics xref: UMLS:C1849735 is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0008578 name: Multiple preauricular ear tags and pits namespace: medical_genetics xref: UMLS:C0013443 xref: UMLS:C0175697 xref: UMLS:C0266609 xref: UMLS:C0439064 xref: UMLS:C0521421 xref: UMLS:C1550296 xref: UMLS:C1835147 xref: UMLS:C2235824 is_a: HP:0000384 ! Preauricular skin tag is_a: HP:0004467 ! Preauricular pit [Term] id: HP:0008579 name: Bilateral sensorineural deafness, high frequency namespace: medical_genetics synonym: "Deafness, bilateral sensorineural, high frequency" EXACT [] xref: UMLS:C0011053 xref: UMLS:C0205212 xref: UMLS:C0238767 xref: UMLS:C0581883 is_a: HP:0008530 ! Bilateral sensorineural deafness [Term] id: HP:0008580 name: Minor malformation of the auricles namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0013453 xref: UMLS:C0026193 xref: UMLS:C0205165 xref: UMLS:C0928075 is_a: HP:0004465 ! Malformation of auricle [Term] id: HP:0008581 name: Early conductive hearing loss namespace: medical_genetics xref: UMLS:C0018777 xref: UMLS:C1279919 is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0008583 name: Unfolded superior helices namespace: medical_genetics xref: UMLS:C1845869 is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0008584 name: Progressive high-frequency hearing loss namespace: medical_genetics alt_id: HP:0008597 def: "A `progressive` (PATO:0001818) form of `high-frequency hearing impairment` (HP:0005101)." [HPO:probinson] synonym: "Progressive high frequency hearing loss" EXACT [] xref: UMLS:C0018780 xref: UMLS:C0205329 is_a: HP:0005101 ! High-frequency hearing impairment [Term] id: HP:0008586 name: Hypoplasia of the cochlea namespace: medical_genetics def: "Developmental hypoplasia of the `cochlea` (FMA:60201)." [HPO:probinson] synonym: "Hypoplastic cochlea" EXACT [] xref: UMLS:C0009195 xref: UMLS:C0543481 xref: UMLS:C1278895 is_a: HP:0000375 ! Abnormality of cochlea is_a: HP:0008774 ! Aplasia/Hypoplasia of the inner ear [Term] id: HP:0008587 name: Mild neurosensory hearing impairment namespace: medical_genetics def: "The presence of a `mild` (PATO:0000394) form of `sensorineural hearing impairment` (HP:0000407)." [HPO:probinson] comment: A nueorsensory hearing loss with a deficit of 21-40 dB. synonym: "Mild neurosensory hearing loss" EXACT [] xref: UMLS:C0547040 xref: UMLS:C1384666 xref: UMLS:C2029884 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008588 name: Slit-like openings of the exterior auditory meatus namespace: medical_genetics xref: UMLS:C0175566 xref: UMLS:C0205356 xref: UMLS:C0439825 xref: UMLS:C1550277 xref: UMLS:C1882151 is_a: HP:0000413 ! External auditory canal atresia [Term] id: HP:0008589 name: Hypoplastic helices namespace: medical_genetics def: "Underdevelopment of the `helix` (FMA:60992), i.e., of the outer rim of the pinna." [HPO:curators] xref: UMLS:C1842681 is_a: HP:0008621 ! Hypoplastic pinna [Term] id: HP:0008590 name: Progressive childhood hearing loss namespace: medical_genetics def: "A `progressive` (PATO:0001818) form of `hearing impairment` (HP:0000365) with `juvenile onset` (HP:0003621)." [HPO:probinson] xref: UMLS:C0231335 xref: UMLS:C1842138 is_a: HP:0001730 ! Progressive hearing impairment [Term] id: HP:0008591 name: Congenital conductive hearing loss namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0018777 xref: UMLS:C1744681 is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0008593 name: Prominent antitragus namespace: medical_genetics def: "Abnormally prominent antitragus." [HPO:curators] xref: UMLS:C1968811 is_a: HP:0009896 ! Abnormality of the antitragus [Term] id: HP:0008594 name: Variable external ear malformation namespace: medical_genetics xref: UMLS:C0439828 xref: UMLS:C1705098 xref: UMLS:C1846460 is_a: HP:0008572 ! External ear malformation [Term] id: HP:0008595 name: Absence of acoustic middle ear muscle reflexes namespace: medical_genetics xref: UMLS:C0013455 xref: UMLS:C0026845 xref: UMLS:C0034934 xref: UMLS:C0391916 xref: UMLS:C0444598 xref: UMLS:C1268972 xref: UMLS:C1552826 xref: UMLS:C1689985 xref: UMLS:C2107118 xref: UMLS:C2228461 is_a: HP:0004454 ! abnormal middle ear reflexes [Term] id: HP:0008596 name: Progressive postlingual sensorineural namespace: medical_genetics def: "A form of `progressive` (PATO:0001818) `sensorineural hearing impairment` (HP:0000407) with `juvenile onset` (HP:0003621), i.e., after the acquisition of speech." [HPO:probinson] synonym: "Sensorineural deafness, postlingual, progressive" EXACT [] xref: UMLS:C0018784 xref: UMLS:C0205329 is_a: HP:0000408 ! Progressive sensorineural hearing impairment [Term] id: HP:0008598 name: Mild conductive hearing impairment namespace: medical_genetics def: "A `mild` (PATO:0000394) form of `conductive hearing impairment` (HP:0000405)." [HPO:probinson] comment: Conductive hearing impairment with 21-40 dB deficit. synonym: "Conductive hearing loss, mild" EXACT [] xref: UMLS:C0018777 xref: UMLS:C0547040 is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0008600 name: Low-set, cup-shaped ears namespace: medical_genetics xref: UMLS:C0036849 xref: UMLS:C0205251 xref: UMLS:C1299352 xref: UMLS:C1442518 xref: UMLS:C1550472 xref: UMLS:C1864799 is_a: HP:0000378 ! Cup-shaped ears [Term] id: HP:0008603 name: Congenital severe sensorineural hearing impairment namespace: medical_genetics def: "A `severe` (PATO:0000396) form of `congenital sensorineural hearing impairment` (HP:0008620)." [HPO:probinson] synonym: "Congenital severe sensorineural hearing loss" EXACT [] xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1865866 is_a: HP:0008527 ! Congenital sensorineural hearing impairment [Term] id: HP:0008604 name: Transverse earlobe creases namespace: medical_genetics xref: UMLS:C1866804 is_a: HP:0009908 ! Earlobe crease [Term] id: HP:0008605 name: Unilateral external ear deformity namespace: medical_genetics xref: UMLS:C1834043 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008606 name: Supraauricular pit namespace: medical_genetics 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 is_a: HP:0100277 ! Periauricular skin pits [Term] id: HP:0008607 name: Progressive conductive deafness namespace: medical_genetics def: "A `progressive` (PATO:0001818) type of `conductive deafness` (HP:0000367)." [HPO:probinson] xref: UMLS:C1861325 is_a: HP:0000367 ! Conductive deafness [Term] id: HP:0008608 name: Hypertrophic auricular cartilage namespace: medical_genetics xref: UMLS:C1857263 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008609 name: Middle ear malformations namespace: medical_genetics xref: UMLS:C1857456 is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0008610 name: Infantile sensorineural hearing impairment namespace: medical_genetics def: "A form of `sensorineural hearing impairment` (HP:0000407) with `infantile onset` (HP:0003593)." [HPO:probinson] synonym: "Infantile sensorineural hearing loss" EXACT [] xref: UMLS:C0018784 xref: UMLS:C0231330 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008613 name: Nonprogressive sensorineural hearing loss limited to the 1,500-8,000 Hz range namespace: medical_genetics def: "A `non-progressive` (PATO:0002026) form of `sensorineural hearing impairment` (HP:0000407) that is limited to frequencies in the 1,500-8,000 Hz range." [HPO:probinson] xref: UMLS:C0018784 xref: UMLS:C0205409 xref: UMLS:C0439482 xref: UMLS:C0439801 xref: UMLS:C1514721 xref: UMLS:C1864820 xref: UMLS:C2348147 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008615 name: Late onset sensorineural deafness namespace: medical_genetics alt_id: HP:0008532 alt_id: HP:0008599 def: "The presence of `sensorineural deafness` (HP:0008538) with `late onset` (HP:0003596)." [HPO:probinson] synonym: "Late sensorineural hearing loss" EXACT [] synonym: "Sensorineural deafness, late-onset" EXACT [] xref: UMLS:C0018784 xref: UMLS:C0205087 xref: UMLS:C0332162 is_a: HP:0008538 ! Sensorineural deafness [Term] id: HP:0008616 name: Small/rudimentary tragus, antitragus and lobule namespace: medical_genetics xref: UMLS:C0229312 xref: UMLS:C0229314 xref: UMLS:C0700321 xref: UMLS:C0921005 xref: UMLS:C1000996 is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008617 name: Progressive bilateral sensorineural hearing loss namespace: medical_genetics alt_id: HP:0008592 alt_id: HP:0008601 def: "A `bilateral` (PATO:0000618) and `progressive` (PATO:0001818) form of `sensorineural hearing impairment` (HP:0000407)." [HPO:probinson] synonym: "Bilateral progressive sensorineural hearing loss" EXACT [] synonym: "Hearing loss, sensorineural, bilateral, progressive" EXACT [] xref: UMLS:C0205329 xref: UMLS:C0238767 xref: UMLS:C0452138 xref: UMLS:C1384666 xref: UMLS:C1843156 xref: UMLS:C1970279 xref: UMLS:C2029884 is_a: HP:0000408 ! Progressive sensorineural hearing impairment [Term] id: HP:0008619 name: Bilateral sensorineural hearing impairment namespace: medical_genetics alt_id: HP:0008585 def: "A `bilateral` (PATO:0000618) form of `sensorineural hearing impairment` (HP:0000407)." [HPO:probinson] synonym: "Bilateral sensorineural hearing loss" EXACT [] synonym: "Hearing loss, sensorineural, bilateral" EXACT [] xref: UMLS:C0238767 xref: UMLS:C0452138 xref: UMLS:C1384666 xref: UMLS:C2029884 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008620 name: Congenital sensorineural deafness namespace: medical_genetics alt_id: HP:0008520 alt_id: HP:0008521 alt_id: HP:0008545 alt_id: HP:0008556 alt_id: HP:0008558 alt_id: HP:0008561 alt_id: HP:0008571 def: "A form of `sensorineural deafness` (HP:0008538) with `congenital onset` (HP:0003577)." [HPO:probinson] synonym: "Bilateral congenital profound sensorineural hearing loss" EXACT [] synonym: "Congenital neurosensory deafness" EXACT [] synonym: "Congenital perceptive deafness" EXACT [] synonym: "Hearing loss, profound congenital sensorineural" EXACT [] synonym: "Hearing loss, sensorineural, profound congenital" EXACT [] synonym: "Profound, congenital, neurosensory, nonsyndromal deafness" EXACT [] synonym: "Sensorineural hearing loss, profound congenital" EXACT [] xref: UMLS:C0009678 xref: UMLS:C0011053 xref: UMLS:C0018784 xref: UMLS:C0339789 xref: UMLS:C0439808 xref: UMLS:C0581883 xref: UMLS:C1384666 xref: UMLS:C1744681 xref: UMLS:C1863193 xref: UMLS:C2029884 is_a: HP:0001728 ! Congenital deafness is_a: HP:0008527 ! Congenital sensorineural hearing impairment is_a: HP:0008538 ! Sensorineural deafness [Term] id: HP:0008621 name: Hypoplastic pinna namespace: medical_genetics alt_id: HP:0008618 def: "Underdevelopment of the `pinna` (FMA:56580)." [HPO:curators] synonym: "Hypoplastic ears" EXACT [] xref: UMLS:C0013453 xref: UMLS:C0543481 xref: UMLS:C0928075 xref: UMLS:C1047272 xref: UMLS:C1706219 xref: UMLS:C1853632 is_a: HP:0008551 ! Hypoplasia of the external ear [Term] id: HP:0008622 name: Recurrent otitis media in infancy and childhood namespace: medical_genetics xref: UMLS:C0231330 xref: UMLS:C0231335 xref: UMLS:C0747085 is_a: HP:0000403 ! Recurrent otitis media [Term] id: HP:0008623 name: Susceptibility to otitis media namespace: medical_genetics xref: UMLS:C0012655 xref: UMLS:C0029882 xref: UMLS:C0220898 xref: UMLS:C1264642 xref: UMLS:C1547045 is_a: HP:0000388 ! Otitis media [Term] id: HP:0008624 name: Recurrent otitis media in infancy namespace: medical_genetics xref: UMLS:C0231330 xref: UMLS:C0747085 is_a: HP:0000403 ! Recurrent otitis media [Term] id: HP:0008625 name: Severe sensorineural hearing impairment namespace: medical_genetics alt_id: HP:0008534 def: "A `severe` (PATO:0000396) form of `sensorineural hearing impairment` (HP:0000407)." [HPO:probinson] synonym: "Severe sensorineural hearing loss" EXACT [] xref: UMLS:C0018784 xref: UMLS:C0205082 xref: UMLS:C0439808 xref: UMLS:C1384666 xref: UMLS:C1519275 xref: UMLS:C2029884 is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0008626 name: Congenital bilateral symmetric subtotal external auditory canal atresia namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0205257 xref: UMLS:C0238767 xref: UMLS:C0266597 xref: UMLS:C0332516 xref: UMLS:C0728939 xref: UMLS:C1744681 is_a: HP:0000413 ! External auditory canal atresia [Term] id: HP:0008628 name: Stapedial abnormalities namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0038152 xref: UMLS:C1280695 is_a: HP:0000359 ! Abnormality of the inner ear [Term] id: HP:0008629 name: Pulsatile tinnitus namespace: medical_genetics 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 is_a: HP:0000360 ! Tinnitus [Term] id: HP:0008631 name: Ureteral agenesis/dysgenesis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0266326 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0008633 name: Absent gonadal tissue namespace: medical_genetics xref: UMLS:C0018067 xref: UMLS:C0040300 xref: UMLS:C0332197 xref: UMLS:C1547928 is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008634 name: Chronic hereditary nephritis namespace: medical_genetics xref: UMLS:C0027706 is_a: HP:0000123 ! Nephritis [Term] id: HP:0008635 name: Hypertrophy of the urinary bladder namespace: medical_genetics def: "Abnormal enlargement of the `urinary bladder` (FMA:15900)." [HPO:probinson] synonym: "Hypertrophic urinary bladder" EXACT [] xref: UMLS:C0005682 xref: UMLS:C0020564 xref: UMLS:C0333959 is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0008636 name: Lobular glomerulopathy namespace: medical_genetics xref: UMLS:C0205417 xref: UMLS:C1398810 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0008637 name: Rudimentary uterus and vagina namespace: medical_genetics xref: UMLS:C0042232 xref: UMLS:C1278985 xref: UMLS:C1406390 xref: UMLS:C1998935 is_a: HP:0000013 ! Hypoplasia of the uterus is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina [Term] id: HP:0008638 name: Terminal nephrotic syndrome namespace: medical_genetics xref: UMLS:C0027726 xref: UMLS:C0205088 xref: UMLS:C1705314 xref: UMLS:C1705315 is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0008639 name: Gonadal hypoplasia namespace: medical_genetics xref: UMLS:C0239761 is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008640 name: Congenital macroorchidism namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C1263023 xref: UMLS:C1744681 is_a: HP:0000053 ! Macroorchidism [Term] id: HP:0008641 name: Oligomeganephronic renal hypoplasia namespace: medical_genetics def: "A type of `Hypoplasia` (MPATH:133) of the `kidney` (FMA:7203) that results from a `decreased number` (PATO:0001999) of `nephrons` (FMA:17640)." [HPO:probinson] comment: Oligomeganephronic renal hypoplasia differs from simple hypoplasia, in which the renal mass is reduced but the number of nephrons is normal. xref: UMLS:C0022646 xref: UMLS:C0431694 is_a: HP:0000089 ! Renal hypoplasia [Term] id: HP:0008643 name: Nephroblastomatosis namespace: medical_genetics is_a: HP:0002667 ! Nephroblastoma (Wilms tumor) [Term] id: HP:0008647 name: Pubertal developmental failure in females namespace: medical_genetics xref: UMLS:C0015780 xref: UMLS:C0086287 xref: UMLS:C0231174 xref: UMLS:C0458003 xref: UMLS:C0678723 xref: UMLS:C0680095 xref: UMLS:C1627769 is_a: HP:0008197 ! Absence of pubertal development [Term] id: HP:0008648 name: Anteriorly displaced urethral meatus namespace: medical_genetics xref: UMLS:C0012727 xref: UMLS:C0205094 xref: UMLS:C0227744 xref: UMLS:C1261212 is_a: HP:0100627 ! Displacement of the external urethral meatus [Term] id: HP:0008651 name: Uric acid urolithiasis independent of gout namespace: medical_genetics xref: UMLS:C0018099 xref: UMLS:C0403719 is_a: HP:0000791 ! Uric acid urolithiasis [Term] id: HP:0008652 name: Impotence due to autonomic dysfunction namespace: medical_genetics xref: UMLS:C0242350 xref: UMLS:C0741307 xref: UMLS:C2187990 is_a: HP:0002387 ! Autonomic dysfunction [Term] id: HP:0008653 name: Necrotizing glomerulonephritis namespace: medical_genetics xref: UMLS:C0268750 is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0008654 name: Tubulointerstitial nephropathy namespace: medical_genetics xref: UMLS:C0027707 is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0008655 name: Aplasia/Hypoplasia of the fallopian tube namespace: medical_genetics def: "`Aplasia` (MPATH:58) or developmental hypoplasia of the `fallopian tube` (FMA:18245)." [HPO:probinson] synonym: "Absent or rudimentary fallopian tubes" RELATED [] xref: UMLS:C0332197 xref: UMLS:C1968706 is_a: HP:0011027 ! Abnormality of the fallopian tube [Term] id: HP:0008656 name: Incomplete male pseudohermaphroditism namespace: medical_genetics xref: UMLS:C0205257 xref: UMLS:C0238395 xref: UMLS:C1548386 is_a: HP:0000037 ! Male pseudohermaphroditism [Term] id: HP:0008657 name: Sclerocystic ovaries namespace: medical_genetics xref: UMLS:C1136382 is_a: HP:0000146 ! Ovarian cystic abnormality [Term] id: HP:0008659 name: Multiple small medullary renal cysts namespace: medical_genetics xref: UMLS:C0001629 xref: UMLS:C0022646 xref: UMLS:C0025148 xref: UMLS:C0431718 xref: UMLS:C0700321 xref: UMLS:C1550278 xref: UMLS:C2145688 is_a: HP:0005562 ! Multiple renal cysts [Term] id: HP:0008660 name: Renotubular dysgenesis namespace: medical_genetics xref: UMLS:C0266313 is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0008661 name: Urethral stenosis namespace: medical_genetics xref: UMLS:C0041974 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0008662 name: Labia minora hypertrophy namespace: medical_genetics xref: UMLS:C1853570 is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0008663 name: Congenital renal sarcoma namespace: medical_genetics def: "A `sarcoma` (MPATH:551) of the `kidney` (FMA:7203) with `congenital onset` (HP:0003577)." [HPO:probinson] xref: UMLS:C0009678 xref: UMLS:C0346251 xref: UMLS:C1744681 is_a: HP:0009726 ! Renal neoplasm is_a: HP:0100242 ! Sarcoma [Term] id: HP:0008664 name: Urethral sphincter sclerosis namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0457053 is_a: HP:0008661 ! Urethral stenosis [Term] id: HP:0008665 name: Clitoral hypertrophy namespace: medical_genetics alt_id: HP:0008728 def: "`Hypertrophy` (MPATH:159) of the `clitoris` (FMA:9909)." [HPO:probinson] synonym: "Hypertrophic clitoris" EXACT [] xref: UMLS:C1839711 xref: UMLS:C1853569 is_a: HP:0000056 ! Abnormality of the clitoris [Term] id: HP:0008666 name: Impaired histidine renal tubular absorption namespace: medical_genetics xref: UMLS:C0000854 xref: UMLS:C0019602 xref: UMLS:C0022674 xref: UMLS:C0220777 xref: UMLS:C0221099 xref: UMLS:C0684336 xref: UMLS:C1283878 xref: UMLS:C2347080 is_a: HP:0000124 ! Renal tubular dysfunction [Term] id: HP:0008668 name: Gonadal dysgenesis, male namespace: medical_genetics 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 [] xref: UMLS:C0018051 xref: UMLS:C1710693 is_a: HP:0000133 ! Gonadal dysgenesis [Term] id: HP:0008669 name: Impaired spermatogenesis namespace: medical_genetics xref: UMLS:C1859620 is_a: HP:0000025 ! Functional abnormality of male internal genitalia [Term] id: HP:0008670 name: Partial vaginal septum namespace: medical_genetics xref: UMLS:C0431649 xref: UMLS:C0728938 xref: UMLS:C1550516 is_a: HP:0001153 ! Septate vagina [Term] id: HP:0008671 name: Rapid loss of renal function namespace: medical_genetics xref: UMLS:C0022662 xref: UMLS:C0232804 xref: UMLS:C0439831 xref: UMLS:C1517945 is_a: HP:0000082 ! Abnormality of renal physiology [Term] id: HP:0008672 name: Calcium oxalate nephrolithiasis namespace: medical_genetics xref: UMLS:C1833683 is_a: HP:0004724 ! calcium nephrolithiasis [Term] id: HP:0008673 name: Infantile polycystic kidneys namespace: medical_genetics xref: UMLS:C0022680 xref: UMLS:C0231330 xref: UMLS:C1567435 is_a: HP:0000113 ! Polycystic kidney dysplasia [Term] id: HP:0008674 name: No secondary sexual characteristics at puberty namespace: medical_genetics xref: UMLS:C0034011 xref: UMLS:C0036864 xref: UMLS:C0175668 xref: UMLS:C0205436 xref: UMLS:C1521970 xref: UMLS:C1522484 is_a: HP:0008187 ! Absence of secondary sex characteristics [Term] id: HP:0008675 name: Enlarged polycystic ovaries namespace: medical_genetics xref: UMLS:C0032460 xref: UMLS:C0442800 xref: UMLS:C1293134 is_a: HP:0000147 ! polycystic ovaries [Term] id: HP:0008676 name: Congenital megaloureter namespace: medical_genetics def: "A developmental disturbance with extreme ureteral dilatation on a nonobstructive basis." [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 primary megaureter" EXACT [] xref: UMLS:C0266324 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0008677 name: Congenital nephrosis namespace: medical_genetics xref: UMLS:C0403399 is_a: HP:0000801 ! Nephrosis [Term] id: HP:0008678 name: Renal hypoplasia/aplasia namespace: medical_genetics alt_id: HP:0004744 alt_id: HP:0008701 synonym: "Renal agenesis/hypoplasia" EXACT [] synonym: "Renal aplasia/hypoplasia" EXACT [] xref: UMLS:C0220706 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0266295 xref: UMLS:C0334079 xref: UMLS:C0542519 xref: UMLS:C0543481 xref: UMLS:C1619700 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0008680 name: Renal agenesis/dysgenesis namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0220706 xref: UMLS:C0542519 is_a: HP:0000104 ! Renal agenesis [Term] id: HP:0008682 name: Renal tubular necrosis namespace: medical_genetics xref: UMLS:C1720775 is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0008683 name: Enlarged labia minora namespace: medical_genetics xref: UMLS:C1849358 is_a: HP:0000065 ! Labial hypertrophy [Term] id: HP:0008684 name: Aplasia/hypoplasia of the uterus namespace: medical_genetics def: "Absence or developmental hypoplasia of the `uterus` (FMA:17558)." [HPO:probinson] xref: UMLS:C0332197 xref: UMLS:C1836183 is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0008687 name: Hypoplasia of the prostate namespace: medical_genetics synonym: "Hypoplastic prostate" EXACT [] xref: UMLS:C1844923 is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0008688 name: Genitourinary dysplasia namespace: medical_genetics def: "`Developmental dysplasia` (MPATH:64) of the `genitourinary system` (FMA:280610)." [HPO:probinson] xref: UMLS:C1842054 is_a: HP:0000119 ! Abnormality of the genitourinary system [Term] id: HP:0008689 name: Bilateral cryptorchidism namespace: medical_genetics alt_id: HP:0008686 synonym: "Cryptorchidism, bilateral" EXACT [] xref: UMLS:C0010417 xref: UMLS:C0238767 xref: UMLS:C0431663 is_a: HP:0000028 ! Cryptorchidism [Term] id: HP:0008691 name: Solitary bladder diverticulum namespace: medical_genetics xref: UMLS:C0156273 xref: UMLS:C0205171 is_a: HP:0000015 ! Bladder diverticula [Term] id: HP:0008694 name: Hypertrophic labia minora namespace: medical_genetics xref: UMLS:C0020564 xref: UMLS:C0227766 xref: UMLS:C0333959 is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0008695 name: Transient nephrotic syndrome namespace: medical_genetics xref: UMLS:C0027726 xref: UMLS:C0040704 xref: UMLS:C0205374 is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0008696 name: Bilateral renal hamartomas namespace: medical_genetics def: "The presence of `bilateral` (PATO:0000618) `hamartomas` (MPATH:74) of the `kidney` (FMA:7203)." [HPO:probinson] xref: UMLS:C0238767 xref: UMLS:C1840396 is_a: HP:0009726 ! Renal neoplasm is_a: HP:0010566 ! Hamartoma [Term] id: HP:0008697 name: Hypoplasia of the fallopian tube namespace: medical_genetics def: "Developmental hypoplasia of the `fallopian tube` (FMA:18245)." [HPO:probinson] synonym: "Rudimentary fallopian tubes" RELATED [] xref: UMLS:C1968706 is_a: HP:0008655 ! Aplasia/Hypoplasia of the fallopian tube [Term] id: HP:0008700 name: Calcium oxalate urolithiasis namespace: medical_genetics xref: UMLS:C1833684 is_a: HP:0004724 ! calcium nephrolithiasis [Term] id: HP:0008702 name: Absent internal genitalia namespace: medical_genetics xref: UMLS:C0332197 xref: UMLS:C0836200 is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008703 name: Gonadal calcification namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0018067 xref: UMLS:C0175895 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0008705 name: Ureteral triplication namespace: medical_genetics xref: UMLS:C0041951 xref: UMLS:C0205174 xref: UMLS:C1522613 is_a: HP:0000073 ! Ureteral duplication [Term] id: HP:0008706 name: Distal urethral duplication namespace: medical_genetics xref: UMLS:C0332597 xref: UMLS:C0447591 xref: UMLS:C1705960 xref: UMLS:C1744561 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0008707 name: Abnormal or absent scrotum namespace: medical_genetics xref: UMLS:C0205161 xref: UMLS:C0426320 xref: UMLS:C2347472 is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0008708 name: Partial development of the penile shaft namespace: medical_genetics xref: UMLS:C0020119 xref: UMLS:C0227936 xref: UMLS:C0243107 xref: UMLS:C0678723 xref: UMLS:C0728938 xref: UMLS:C1527148 xref: UMLS:C1550516 is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0008710 name: Small external genitalia namespace: medical_genetics xref: UMLS:C0042993 xref: UMLS:C0205101 xref: UMLS:C0227605 xref: UMLS:C0700321 xref: UMLS:C1855333 is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0008711 name: Benign prostatic hyperplasia namespace: medical_genetics def: "The presence of `non-malignant` (PATO:0002096) `hyperplasia` (MPATH:134) of the `prostate` (FMA:9600)." [HPO:probinson] xref: UMLS:C1527263 xref: UMLS:C1704272 is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0008713 name: Genitourinary tract malformation namespace: medical_genetics def: "A developmental anomaly leading to the presence of a `malformed` (PATO:0000646) structure of the `genitourinary system` (FMA:280610)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0042066 xref: UMLS:C1283794 is_a: HP:0000119 ! Abnormality of the genitourinary system [Term] id: HP:0008714 name: Ureterovesical stenosis namespace: medical_genetics xref: UMLS:C1856935 is_a: HP:0000071 ! Ureteral stenosis [Term] id: HP:0008715 name: Testicular dysgenesis namespace: medical_genetics xref: UMLS:C0302885 is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0008716 name: Urethrovaginal fistula namespace: medical_genetics def: "The presence of a `fistula` (MPATH:70) between the `vagina` (FMA:19949) and the `urethra` (FMA:19667)." [HPO:probinson] synonym: "Urethrovaginal fistulae" EXACT [] xref: UMLS:C0269133 is_a: HP:0004320 ! Vaginal fistula is_a: HP:0010480 ! Urethral fistula [Term] id: HP:0008717 name: Unilateral renal atrophy namespace: medical_genetics def: "A `unilateral` (PATO:0000634) form of `atrophy` (MPATH:127) of the `kidney` (FMA:7203)." [HPO:probinson] xref: UMLS:C1827184 is_a: HP:0000077 ! Abnormality of the kidney [Term] id: HP:0008718 name: Unilateral renal dysplasia namespace: medical_genetics def: "A `unilateral` (PATO:0000634) form of `developmental dysplasia` (MPATH:64) of the `kidney` (FMA:7203)." [HPO:probinson] xref: UMLS:C0431697 is_a: HP:0000110 ! Renal dysplasia [Term] id: HP:0008720 name: Primary testicular failure namespace: medical_genetics xref: UMLS:C1384582 is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0008721 name: Hypoplastic male genitalia namespace: medical_genetics xref: UMLS:C1852534 is_a: HP:0000050 ! Hypoplastic genitalia [Term] id: HP:0008722 name: Urethral diverticulum namespace: medical_genetics def: "The presence of a diverticulum (sac or pouch) in the wall of the urethra." [HPO:curators] xref: UMLS:C0152443 is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0008723 name: Gonadal dysgenesis with female appearance, male namespace: medical_genetics 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 [] xref: UMLS:C0018051 xref: UMLS:C0432470 is_a: HP:0000133 ! Gonadal dysgenesis [Term] id: HP:0008724 name: Hypoplasia of the ovary namespace: medical_genetics def: "Developmental hypoplasia of the `ovary` (FMA:7209)." [HPO:probinson] synonym: "Hypoplastic ovary" RELATED [] xref: UMLS:C1835452 is_a: HP:0010462 ! Aplasia/Hypoplasia of the ovary [Term] id: HP:0008725 name: Oxalate nephrolithiasis namespace: medical_genetics xref: UMLS:C0029988 xref: UMLS:C0392525 is_a: HP:0000787 ! Kidney stones [Term] id: HP:0008726 name: Hypoplasia of the vagina namespace: medical_genetics def: "Developmental hypoplasia of the `vagina` (FMA:19949)." [HPO:probinson] synonym: "Hypoplastic vagina" RELATED [] xref: UMLS:C1861542 is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina [Term] id: HP:0008727 name: Idiopathic nephrotic syndrome namespace: medical_genetics xref: UMLS:C0027721 xref: UMLS:C1868672 is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0008729 name: Absence of labia majora namespace: medical_genetics xref: UMLS:C0227760 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0008730 name: Female external genitalia in males namespace: medical_genetics alt_id: HP:0008719 def: "The presence of female external genitalia in a person with a male karyotype." [HPO:curators] synonym: "Males with female external genitalia" EXACT [] xref: UMLS:C0024554 xref: UMLS:C0086582 xref: UMLS:C0227747 is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0008732 name: Renal hypophosphatemia namespace: medical_genetics xref: UMLS:C0022646 xref: UMLS:C0085682 is_a: HP:0002148 ! Hypophosphatemia [Term] id: HP:0008733 name: Dysplastic testes namespace: medical_genetics xref: UMLS:C1837380 is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0008734 name: Decreased testicular size namespace: medical_genetics alt_id: HP:0000043 synonym: "Hypoplastic testes" EXACT [] synonym: "Small testes" EXACT [] synonym: "Testicular hypoplasia" EXACT [] xref: UMLS:C0241355 xref: UMLS:C0266425 xref: UMLS:C1860124 is_a: HP:0000050 ! Hypoplastic genitalia is_a: HP:0010468 ! Aplasia/Hypoplasia of the testes [Term] id: HP:0008735 name: Hypoplastic, bicornuate uterus namespace: medical_genetics xref: UMLS:C0266387 xref: UMLS:C0543481 is_a: HP:0000813 ! Bicornuate uterus [Term] id: HP:0008736 name: Hypoplasia of penis namespace: medical_genetics alt_id: HP:0008632 synonym: "Underdeveloped penis" EXACT [] xref: UMLS:C0030851 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1280739 is_a: HP:0000036 ! Abnormality of the penis is_a: HP:0000050 ! Hypoplastic genitalia [Term] id: HP:0008737 name: Nonsyndromal diffuse cystic renal dysplasia namespace: medical_genetics xref: UMLS:C0205219 xref: UMLS:C1842693 is_a: HP:0000800 ! Cystic renal dysplasia [Term] id: HP:0008738 name: Partially duplicated displaced kidney namespace: medical_genetics xref: UMLS:C0012727 xref: UMLS:C0022646 xref: UMLS:C0332597 xref: UMLS:C0728938 xref: UMLS:C1278978 xref: UMLS:C1550516 is_a: HP:0000075 ! Renal duplication is_a: HP:0100542 ! Abnormal localization of kidneys [Term] id: HP:0008739 name: Labial pseudohypertrophy namespace: medical_genetics xref: UMLS:C1835380 is_a: HP:0000065 ! Labial hypertrophy [Term] id: HP:0008740 name: Longitudinal vaginal septum namespace: medical_genetics 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:C0205128 xref: UMLS:C0431649 xref: UMLS:C1841680 is_a: HP:0001153 ! Septate vagina [Term] id: HP:0008741 name: Hypertension due to renal artery hyperplasia namespace: medical_genetics def: "The presence of `hypertension` (HP:0000822) related to `hyperplasia` (MPATH:134) of the `renal artery` (FMA:14751)." [HPO:probinson] xref: UMLS:C0020538 xref: UMLS:C0155761 xref: UMLS:C1963138 is_a: HP:0000822 ! Hypertension is_a: HP:0008776 ! Abnormality of the renal artery [Term] id: HP:0008742 name: Prominent prostate median bar namespace: medical_genetics xref: UMLS:C0033572 xref: UMLS:C0205402 xref: UMLS:C1278980 xref: UMLS:C1403659 is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0008743 name: Coronal hypospadias namespace: medical_genetics def: "A mild form of hypospadias in which the urethra opens just under the corona glandis." [HPO:curators] xref: UMLS:C1394030 is_a: HP:0000047 ! Hypospadias [Term] id: HP:0008744 name: Abnormality of the aryepiglottic fold namespace: medical_genetics def: "An abnormality of the `aryepiglottic fold` (FMA:55448)." [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 is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008746 name: Bifid or hypoplastic epiglottis namespace: medical_genetics xref: UMLS:C0443152 xref: UMLS:C1850262 is_a: HP:0005349 ! Hypoplasia of the epiglottis [Term] id: HP:0008747 name: Cartilaginous ossification of larynx namespace: medical_genetics def: "Ossification affecting the `set of cartilages of larynx` (FMA:64159)." [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). xref: UMLS:C0023078 xref: UMLS:C0231561 xref: UMLS:C1278904 xref: UMLS:C2137050 is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008749 name: Laryngeal hypoplasia namespace: medical_genetics alt_id: HP:0005935 def: "Underdevelopment of the larynx (FMA:55097)." [HPO:probinson] synonym: "Hypoplastic larynx" EXACT [] xref: UMLS:C0431527 xref: UMLS:C1856031 is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008750 name: Laryngeal atresia namespace: medical_genetics def: "Congenital absence of the lumen of the larynx." [eMedicine:837630, HPO:probinson] 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. xref: UMLS:C1857462 is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008751 name: Laryngeal cleft namespace: medical_genetics xref: UMLS:C1840311 is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008752 name: Laryngeal cartilage malformations namespace: medical_genetics xref: UMLS:C1835645 is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008753 name: Aplasia of the epiglottis namespace: medical_genetics def: "Absence of the `epiglottis` (FMA:55130)." [HPO:probinson] xref: UMLS:C0014540 xref: UMLS:C0205161 xref: UMLS:C0332197 xref: UMLS:C1280360 xref: UMLS:C2228436 xref: UMLS:C2347472 is_a: HP:0010565 ! Aplasia/Hypoplasia of the Epiglottis [Term] id: HP:0008754 name: Laryngeal calcifications namespace: medical_genetics alt_id: HP:0008748 def: "Calcification (abnormal deposits of calcium) in the laryngeal tissues." [HPO:curators] synonym: "Laryngeal calcification" EXACT [] xref: UMLS:C1859158 is_a: HP:0001600 ! Abnormality of the larynx is_a: HP:0010766 ! Ectopic calcifications [Term] id: HP:0008755 name: Laryngotracheomalacia namespace: medical_genetics xref: UMLS:C0585984 is_a: HP:0002779 ! Tracheomalacia [Term] id: HP:0008756 name: Bowing of the vocal cords namespace: medical_genetics def: "Bowing (abnormal curvature) of the `vocal folds` (FMA:55457)." [HPO:probinson] xref: UMLS:C0042930 xref: UMLS:C0544755 is_a: HP:0008777 ! Abnormality of the vocal cords [Term] id: HP:0008757 name: Unilateral vocal cord paralysis namespace: medical_genetics def: "A loss of the ability to move the `vocal fold` (FMA:55457) on one side." [HPO:probinson] synonym: "Unilateral paralysis of the vocal cord" EXACT [] xref: UMLS:C0042930 xref: UMLS:C0205092 xref: UMLS:C0522224 xref: UMLS:C1280361 xref: UMLS:C2364097 is_a: HP:0001603 ! Weakness of the vocal cords [Term] id: HP:0008758 name: Stereotypical motor behaviors namespace: medical_genetics xref: UMLS:C1845867 is_a: HP:0000733 ! Stereotyped, repetitive behaviour [Term] id: HP:0008759 name: Perseverative behavior namespace: medical_genetics xref: UMLS:C1843368 is_a: HP:0000733 ! Stereotyped, repetitive behaviour [Term] id: HP:0008760 name: Violent behavior namespace: medical_genetics xref: UMLS:C0424323 is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior [Term] id: HP:0008762 name: Repetitive compulsive behavior namespace: medical_genetics xref: UMLS:C1969697 is_a: HP:0000733 ! Stereotyped, repetitive behaviour [Term] id: HP:0008763 name: No social interaction namespace: medical_genetics xref: UMLS:C0037420 is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0008765 name: Auditory hallucinations namespace: medical_genetics xref: UMLS:C0233762 is_a: HP:0000738 ! Hallucinations [Term] id: HP:0008767 name: Self-mutilation of tongue and lips due to involuntary movements namespace: medical_genetics xref: UMLS:C0023759 xref: UMLS:C0036601 xref: UMLS:C0040408 xref: UMLS:C0427086 xref: UMLS:C1278913 xref: UMLS:C2137027 xref: UMLS:C2242914 is_a: HP:0000742 ! Self-mutilation is_a: HP:0004305 ! Involuntary muscle contractions [Term] id: HP:0008768 name: Inappropriate sexual behavior namespace: medical_genetics xref: UMLS:C0474420 is_a: HP:0000719 ! Inappropriate behavior [Term] id: HP:0008769 name: Dull facial expression namespace: medical_genetics xref: UMLS:C1838028 is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0008770 name: Obsessive-compulsive trait namespace: medical_genetics 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 is_a: HP:0000722 ! Obsessive-compulsive disorder [Term] id: HP:0008771 name: Aplasia/Hypoplasia of the ear namespace: medical_genetics def: "The presence of `aplasia` (MPATH:58) or developmental hypoplasia of the `ear` (FMA:52780)." [HPO:probinson] xref: UMLS:C0013443 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0392760 xref: UMLS:C0521421 xref: UMLS:C0543481 xref: UMLS:C1314939 xref: UMLS:C1414437 is_a: HP:0000598 ! Abnormality of the ear created_by: peter creation_date: 2008-04-04T05:44:00Z [Term] id: HP:0008772 name: Aplasia/Hypoplasia of the external ear namespace: medical_genetics def: "The presence of `aplasia` (MPATH:58) or developmental hypoplasia of all or part of the `external ear` (FMA:52781)." [HPO:probinson] xref: UMLS:C0013453 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0869645 is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear created_by: peter creation_date: 2008-04-04T05:45:00Z [Term] id: HP:0008773 name: Aplasia/Hypoplasia of the middle ear namespace: medical_genetics alt_id: HP:0008533 alt_id: HP:0008548 def: "`Aplasia` (MPATH:58) or developmental hypoplasia of all or part of the `middle ear` (FMA:56513)." [HPO:probinson] synonym: "Hypoplastic/aplastic middle ear structures" EXACT [] synonym: "Middle ear hypoplasia/aplasia" EXACT [] xref: UMLS:C0013455 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0678594 xref: UMLS:C1268972 xref: UMLS:C2228461 is_a: HP:0000370 ! Abnormality of the middle ear is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear created_by: peter creation_date: 2008-04-04T05:47:00Z [Term] id: HP:0008774 name: Aplasia/Hypoplasia of the inner ear namespace: medical_genetics def: "`Aplasia` (MPATH:58) or developmental hypoplasia of the `inner ear` (FMA:60909)." [HPO:probinson] xref: UMLS:C0022889 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1268973 xref: UMLS:C2087463 is_a: HP:0000359 ! Abnormality of the inner ear is_a: HP:0008771 ! Aplasia/Hypoplasia of the ear created_by: peter creation_date: 2008-04-04T05:48:00Z [Term] id: HP:0008775 name: Abnormality of the prostate namespace: medical_genetics def: "An abnormality of the `prostate` (FMA:9600)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0033572 xref: UMLS:C1278980 xref: UMLS:C1704258 is_a: HP:0000022 ! Abnormality of male internal genitalia created_by: peter creation_date: 2008-04-04T06:01:00Z [Term] id: HP:0008776 name: Abnormality of the renal artery namespace: medical_genetics def: "An abnormality of the `renal artery` (FMA:14751)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0035065 xref: UMLS:C1278951 xref: UMLS:C1704258 is_a: HP:0000077 ! Abnormality of the kidney created_by: peter creation_date: 2008-04-04T06:13:00Z [Term] id: HP:0008777 name: Abnormality of the vocal cords namespace: medical_genetics def: "An abnormality of the `vocal cord` (FMA:55457)." [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. xref: UMLS:C0000768 xref: UMLS:C0042930 xref: UMLS:C1704258 is_a: HP:0001600 ! Abnormality of the larynx created_by: peter creation_date: 2008-04-04T06:18:00Z [Term] id: HP:0008779 name: Hypoplastic femoral neck namespace: medical_genetics xref: UMLS:C1839722 is_a: HP:0005613 ! Aplasia/hypoplasia of the femur [Term] id: HP:0008780 name: Congenital bilateral hip dislocation namespace: medical_genetics xref: UMLS:C0158713 is_a: HP:0001374 ! Congenital hip dislocation [Term] id: HP:0008781 name: Short, wide femoral neck namespace: medical_genetics alt_id: HP:0003372 alt_id: HP:0008836 def: "An abnormally short and wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:curators] synonym: "Broad, short femoral neck" EXACT [] synonym: "Short, broad femoral necks" EXACT [] xref: UMLS:C0332464 xref: UMLS:C1806781 xref: UMLS:C1836184 xref: UMLS:C1836590 xref: UMLS:C1849016 xref: UMLS:C1859367 xref: UMLS:C2350002 is_a: HP:0003032 ! Short femoral neck is_a: HP:0006429 ! Broad femoral neck [Term] id: HP:0008782 name: Wide, deformed femoral neck namespace: medical_genetics xref: UMLS:C0333067 xref: UMLS:C1849016 is_a: HP:0006429 ! Broad femoral neck [Term] id: HP:0008783 name: Enlarged, irregular proximal femoral metaphyses namespace: medical_genetics xref: UMLS:C0442800 xref: UMLS:C1293134 xref: UMLS:C1836320 is_a: HP:0003411 ! Irregular proximal femoral metaphyses [Term] id: HP:0008784 name: Flat, wide capital femoral epiphyses namespace: medical_genetics xref: UMLS:C0006909 xref: UMLS:C0205324 xref: UMLS:C0332464 xref: UMLS:C0457933 xref: UMLS:C1282299 is_a: HP:0003370 ! Flat capital femoral epiphysis [Term] id: HP:0008785 name: Delayed ossification of pubic rami namespace: medical_genetics xref: UMLS:C0034014 xref: UMLS:C1969348 is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008786 name: Irregular, lacy iliac crests namespace: medical_genetics alt_id: HP:0008825 def: "Lace-like irregularity of the iliac crest." [HPO:curators] synonym: "Irregular lacy iliac crest" EXACT [] xref: UMLS:C1857186 is_a: HP:0003796 ! Irregular iliac crest [Term] id: HP:0008787 name: Congenital hip dysplasia namespace: medical_genetics def: "The presence of `developmental dysplasia` (MPATH:64) of the `hip` (FMA:24964) with `congenital onset` (HP:0003577)." [HPO:probinson] xref: UMLS:C0019555 is_a: HP:0001385 ! Hip dysplasia [Term] id: HP:0008788 name: Delayed pubic bone ossification namespace: medical_genetics xref: UMLS:C1866710 is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008789 name: Cone-shaped capital femoral epiphysis namespace: medical_genetics def: "A cone-shaped deformity of the `proximal epiphysis of the femur` (FMA:32841)." [HPO:probinson] xref: UMLS:C1846157 is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010579 ! Cone-shaped epiphyses [Term] id: HP:0008790 name: Widened proximal femoral metaphyses namespace: medical_genetics xref: UMLS:C0015811 xref: UMLS:C0205107 xref: UMLS:C1846158 is_a: HP:0006417 ! Broad femoral metaphyses [Term] id: HP:0008792 name: Small flat capital femoral epiphyses namespace: medical_genetics alt_id: HP:0008791 synonym: "Small flattened capital femoral epiphyses" EXACT [] xref: UMLS:C1832115 xref: UMLS:C1863738 is_a: HP:0003090 ! Hypoplasia of the capital femoral epiphysis is_a: HP:0003370 ! Flat capital femoral epiphysis [Term] id: HP:0008794 name: Dysplastic iliac wings namespace: medical_genetics xref: UMLS:C1837487 is_a: HP:0003174 ! Abnormality of the ischial bones [Term] id: HP:0008795 name: Delayed mineralization of pubic bone namespace: medical_genetics xref: UMLS:C0034014 xref: UMLS:C0205421 xref: UMLS:C1533591 is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008796 name: Externally rotated hips namespace: medical_genetics xref: UMLS:C1846339 is_a: HP:0003783 ! Externally rotated/abducted legs [Term] id: HP:0008797 name: Early ossification of capital femoral epiphyses namespace: medical_genetics def: "Developmental acceleration of ossification of the `proximal epiphysis of the femur` (FMA:32841)." [HPO:probinson] synonym: "Early ossification of capital femoral epiphyses" EXACT [] xref: UMLS:C0006909 xref: UMLS:C0029433 xref: UMLS:C1279919 xref: UMLS:C1282299 is_a: HP:0002644 ! Abnormality of the pelvis is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0008798 name: Widened, small sacrosciatic notches namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C1857188 is_a: HP:0003185 ! Small sacroiliac notches [Term] id: HP:0008800 name: Limited hip movement namespace: medical_genetics xref: UMLS:C1851542 is_a: HP:0002644 ! Abnormality of the pelvis is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0008801 name: Hypoplasia of the lesser trochanter namespace: medical_genetics def: "Underdevelopment of the `lesser trochanter` (FMA:32853)." [HPO:probinson] synonym: "Lesser trochanter hypoplasia" EXACT [] xref: UMLS:C1840062 is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0008802 name: Hypoplasia of the femoral head namespace: medical_genetics alt_id: HP:0008831 def: "Underdevelopment of the `femoral head` (FMA:32851)." [HPO:probinson] synonym: "Hypoplastic femoral head" EXACT [] synonym: "Small femoral heads" EXACT [] xref: UMLS:C1856920 xref: UMLS:C1970688 is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck [Term] id: HP:0008803 name: Narrow sacroiliac notch namespace: medical_genetics xref: UMLS:C1850087 is_a: HP:0003185 ! Small sacroiliac notches [Term] id: HP:0008804 name: Broad femoral heads and necks namespace: medical_genetics xref: UMLS:C0015813 xref: UMLS:C0027530 xref: UMLS:C0332464 is_a: HP:0006429 ! Broad femoral neck [Term] id: HP:0008806 name: Small, irregular proximal femoral epiphyses namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C1846846 is_a: HP:0003411 ! Irregular proximal femoral metaphyses [Term] id: HP:0008807 name: Acetabular dysplasia namespace: medical_genetics alt_id: HP:0008799 def: "The presence of `developmental dysplasia` (MPATH:64) of the `acetabular part of hip bone` (FMA:16579)." [HPO:probinson] synonym: "Dysplastic acetabulae" EXACT [] xref: UMLS:C1306065 xref: UMLS:C1969513 is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0008808 name: High, narrow iliac wings namespace: medical_genetics alt_id: HP:0008778 def: "A high and narrow appearance of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [HPO:curators] synonym: "Narrow, high iliac wings" EXACT [] xref: UMLS:C0020889 xref: UMLS:C0043189 xref: UMLS:C0205250 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1299351 is_a: HP:0002868 ! Narrow iliac wings [Term] id: HP:0008810 name: Limited hip abduction/extension namespace: medical_genetics xref: UMLS:C0231448 xref: UMLS:C1866733 xref: UMLS:C1880641 is_a: HP:0003184 ! Decreased hip abduction [Term] id: HP:0008812 name: Flattened femoral head namespace: medical_genetics def: "An abnormally flattened `femoral head` (FMA:32851)." [HPO:probinson] xref: UMLS:C1860601 is_a: HP:0003368 ! Abnormality of the femoral head [Term] id: HP:0008814 name: Broad, hypoplastic ischia namespace: medical_genetics xref: UMLS:C0332464 xref: UMLS:C0543481 xref: UMLS:C1836868 xref: UMLS:C1860206 is_a: HP:0003175 ! Hypoplastic ischia [Term] id: HP:0008815 name: Narrow sacroiliac notches in infancy namespace: medical_genetics xref: UMLS:C0231330 xref: UMLS:C1850087 is_a: HP:0003185 ! Small sacroiliac notches [Term] id: HP:0008816 name: Hypoplastic pelvic bones namespace: medical_genetics xref: UMLS:C1834956 is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis [Term] id: HP:0008817 name: Aplastic pubic bones namespace: medical_genetics xref: UMLS:C1848660 is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone [Term] id: HP:0008818 name: Large, flared iliac wings namespace: medical_genetics xref: UMLS:C0020889 xref: UMLS:C0043189 xref: UMLS:C0549177 xref: UMLS:C1517205 is_a: HP:0002869 ! Flared iliac wings [Term] id: HP:0008819 name: Narrow, short femoral neck namespace: medical_genetics def: "An abnormally short and narrow femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:curators] xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1859367 is_a: HP:0003032 ! Short femoral neck [Term] id: HP:0008820 name: Absent ossification of capital femoral epiphysis namespace: medical_genetics def: "Lack of ossification of the `proximal epiphysis of the femur` (FMA:32841)." [HPO:probinson] synonym: "Absent ossification of femoral capital epiphyses" EXACT [] xref: UMLS:C0006909 xref: UMLS:C0029433 xref: UMLS:C0332197 xref: UMLS:C1282299 is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0008821 name: Hypoplastic inferior ilia namespace: medical_genetics xref: UMLS:C1837078 is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0008822 name: Hypoplastic ishchiopubic rami namespace: medical_genetics xref: UMLS:C1855893 is_a: HP:0003175 ! Hypoplastic ischia [Term] id: HP:0008823 name: Hypoplastic inferior pubic rami namespace: medical_genetics xref: UMLS:C1853573 is_a: HP:0003173 ! Hypoplastic pubic bones [Term] id: HP:0008824 name: Hypoplastic iliac body namespace: medical_genetics xref: UMLS:C1849034 is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0008826 name: Dislocation of the femoral head namespace: medical_genetics def: "Joint dislocation of the `femoral head` (FMA:32851)." [HPO:probinson] synonym: "Dislocated femoral heads" EXACT [] xref: UMLS:C1859446 is_a: HP:0003368 ! Abnormality of the femoral head [Term] id: HP:0008827 name: Absent pubic ossification in infancy namespace: medical_genetics xref: UMLS:C0029433 xref: UMLS:C0034014 xref: UMLS:C0231330 xref: UMLS:C0332197 is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008828 name: Delayed ossification of the proximal femoral epiphysis namespace: medical_genetics def: "Developmental delay of ossification of the `proximal epiphysis of the femur` (FMA:32841)." [HPO:probinson] synonym: "Delayed ossification proximal femoral epiphyses" EXACT [] xref: UMLS:C1855222 is_a: HP:0002644 ! Abnormality of the pelvis is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0008829 name: Delayed femoral head ossification namespace: medical_genetics def: "Delayed ossification of the `femoral head` (FMA:32851)." [HPO:probinson] xref: UMLS:C1846446 is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck [Term] id: HP:0008830 name: Hypoplastic pubic rami namespace: medical_genetics xref: UMLS:C1969176 is_a: HP:0003173 ! Hypoplastic pubic bones [Term] id: HP:0008832 name: Flat, irregular acetabula namespace: medical_genetics xref: UMLS:C0205324 xref: UMLS:C0457933 xref: UMLS:C1867490 is_a: HP:0003180 ! Flat acetabular roofs [Term] id: HP:0008833 name: Irregular acetabular roof namespace: medical_genetics xref: UMLS:C1834975 is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0008834 name: Flat, irregular acetabular roofs namespace: medical_genetics xref: UMLS:C0205271 xref: UMLS:C0205324 xref: UMLS:C0457933 xref: UMLS:C1834975 xref: UMLS:C1837485 is_a: HP:0003180 ! Flat acetabular roofs [Term] id: HP:0008835 name: Multicentric femoral head ossification namespace: medical_genetics xref: UMLS:C1846447 is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0008837 name: Small iliac wings with concave inferior and medial margin namespace: medical_genetics xref: UMLS:C0205098 xref: UMLS:C0205284 xref: UMLS:C0229985 xref: UMLS:C0521162 xref: UMLS:C0542339 xref: UMLS:C0678975 xref: UMLS:C1269830 xref: UMLS:C1865027 is_a: HP:0002866 ! Hypoplastic iliac wings [Term] id: HP:0008838 name: Stippled calcification proximal humeral epiphyses namespace: medical_genetics xref: UMLS:C1857243 is_a: HP:0003901 ! Stippled calcification of the humeral epiphyses [Term] id: HP:0008839 name: Hypoplastic pelvis namespace: medical_genetics xref: UMLS:C1865125 is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis [Term] id: HP:0008841 name: Hypoplastic/aplastic pubic bones namespace: medical_genetics xref: UMLS:C0543481 xref: UMLS:C1848660 is_a: HP:0003173 ! Hypoplastic pubic bones [Term] id: HP:0008843 name: Hip osteoarthritis namespace: medical_genetics alt_id: HP:0008809 synonym: "Osteoarthritis of hip" EXACT [] xref: UMLS:C0019552 xref: UMLS:C0022122 xref: UMLS:C0029408 xref: UMLS:C0029410 is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0008844 name: Mild-severe postnatal growth deficiency namespace: medical_genetics xref: UMLS:C1849362 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008845 name: Short stature, mesomelic namespace: medical_genetics def: "A type of `disproportionate short stature` (HP:0003498) characterized by disproportionate shortening of the medial parts of the extremities (forearm or lower leg)." [HPO:probinson] synonym: "Short stature, disproportionate mesomelic" EXACT [] xref: UMLS:C0205350 xref: UMLS:C0349588 xref: UMLS:C0549306 xref: UMLS:C2237041 is_a: HP:0008873 ! Short stature, disproportionate short-limbed [Term] id: HP:0008846 name: Severe intrauterine growth retardation namespace: medical_genetics alt_id: HP:0008899 alt_id: HP:0008906 synonym: "Intrauterine growth retardation, severe" EXACT [] synonym: "Severe prenatal growth deficiency" EXACT [] xref: UMLS:C0015934 xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1849361 xref: UMLS:C1855843 is_a: HP:0001511 ! Intrauterine growth restriction [Term] id: HP:0008848 name: Moderately short stature namespace: medical_genetics alt_id: HP:0008891 def: "A moderate degree of short stature." [HPO:curators] synonym: "Moderate short stature" EXACT [] xref: UMLS:C0205081 xref: UMLS:C0349588 xref: UMLS:C1881878 xref: UMLS:C2237041 is_a: HP:0003503 ! Mild to moderate short stature [Term] id: HP:0008849 name: Low birth weight in males namespace: medical_genetics xref: UMLS:C0024032 xref: UMLS:C0024554 xref: UMLS:C0086582 is_a: HP:0001518 ! Low birth weight [Term] id: HP:0008850 name: Postnatal growth retardation, severe namespace: medical_genetics alt_id: HP:0008932 synonym: "Severe postnatal growth deficiency" EXACT [] xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1857641 xref: UMLS:C1865007 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008851 name: Short-trunk dwarfism, identifiable in infancy namespace: medical_genetics xref: UMLS:C0205396 xref: UMLS:C0231330 xref: UMLS:C1705683 xref: UMLS:C1854763 is_a: HP:0003500 ! Short-trunked dwarfism [Term] id: HP:0008852 name: Mild spondylorhizomelic dwarfism namespace: medical_genetics xref: UMLS:C1839691 is_a: HP:0003520 ! Rhizomelic dwarfism [Term] id: HP:0008853 name: Progressive failure to thrive namespace: medical_genetics xref: UMLS:C1854925 is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0008854 name: Severe growth failure namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C0878787 xref: UMLS:C1519275 is_a: HP:0001517 ! Growth failure [Term] id: HP:0008855 name: Moderate growth deficiency namespace: medical_genetics xref: UMLS:C0011155 xref: UMLS:C0162429 xref: UMLS:C0205081 xref: UMLS:C0443263 xref: UMLS:C1623416 xref: UMLS:C1842086 xref: UMLS:C1881878 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008856 name: Acral hypertrophy namespace: medical_genetics xref: UMLS:C0020564 xref: UMLS:C0439746 is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0008857 name: Short-trunk dwarfism identifiable at birth namespace: medical_genetics xref: UMLS:C0005615 xref: UMLS:C0205396 xref: UMLS:C1550722 xref: UMLS:C1705683 xref: UMLS:C1854763 is_a: HP:0003500 ! Short-trunked dwarfism [Term] id: HP:0008859 name: Delayed pubertal growth namespace: medical_genetics xref: UMLS:C0456070 xref: UMLS:C1627769 is_a: HP:0000823 ! Delayed puberty [Term] id: HP:0008860 name: Mild growth deficiency namespace: medical_genetics xref: UMLS:C1860835 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008863 name: Failure to thrive in first year of life namespace: medical_genetics xref: UMLS:C0015544 xref: UMLS:C0205435 xref: UMLS:C0376558 xref: UMLS:C0439234 xref: UMLS:C0439508 xref: UMLS:C1279901 xref: UMLS:C2364119 is_a: HP:0001531 ! Failure to thrive in infancy [Term] id: HP:0008864 name: Reduced upper-lower segment ratio namespace: medical_genetics xref: UMLS:C1836997 is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0008865 name: Postnatal growth failure namespace: medical_genetics xref: UMLS:C1859778 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008866 name: Failure to thrive secondary to recurrent infections namespace: medical_genetics xref: UMLS:C0015544 xref: UMLS:C0175668 xref: UMLS:C0205436 xref: UMLS:C0239998 xref: UMLS:C1522484 xref: UMLS:C2364119 is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0008867 name: Dwarfism, short-trunk, short-limbed namespace: medical_genetics xref: UMLS:C0013336 xref: UMLS:C0239399 xref: UMLS:C0521527 is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008868 name: Postnatal growth deceleration namespace: medical_genetics xref: UMLS:C1835197 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008869 name: Micromelic dwarfism namespace: medical_genetics xref: UMLS:C1849286 is_a: HP:0001516 ! Dwarfism [Term] id: HP:0008871 name: Height less than 3rd percentile namespace: medical_genetics xref: UMLS:C0205437 xref: UMLS:C0487985 xref: UMLS:C1264641 is_a: HP:0004322 ! Short stature [Term] id: HP:0008872 name: Feeding problems in infancy namespace: medical_genetics xref: UMLS:C0231330 xref: UMLS:C0232466 is_a: HP:0002022 ! Feeding difficulties [Term] id: HP:0008873 name: Short stature, disproportionate short-limbed namespace: medical_genetics alt_id: HP:0008858 alt_id: HP:0008889 def: "A type of `disproportionate short stature` (HP:0003498) characterized by a short limbs but an average-sized trunk." [HPO:curators] synonym: "Short stature, disproportionate short limb" EXACT [] synonym: "Short stature, disproportionate short-limb" EXACT [] xref: UMLS:C0205350 xref: UMLS:C0239399 xref: UMLS:C0349588 xref: UMLS:C2237041 is_a: HP:0003498 ! Short stature, disproportionate [Term] id: HP:0008874 name: Truncal obesity developing in mid-childhood namespace: medical_genetics xref: UMLS:C0231335 xref: UMLS:C0311277 xref: UMLS:C1999145 is_a: HP:0001956 ! Truncal obesity [Term] id: HP:0008875 name: Brachymelic dwarfism namespace: medical_genetics xref: UMLS:C0013336 is_a: HP:0001516 ! Dwarfism [Term] id: HP:0008876 name: Severe postnatal failure to thrive namespace: medical_genetics xref: UMLS:C1857668 is_a: HP:0001525 ! Severe failure to thrive [Term] id: HP:0008877 name: Short stature, rhizomelic namespace: medical_genetics def: "A type of `disproportionate short stature` (HP:0003498) characterized by disproportionate shortening of the proximal limbs (upper arms and thighs)." [HPO:probinson] xref: UMLS:C0349588 xref: UMLS:C1857191 xref: UMLS:C2237041 is_a: HP:0008873 ! Short stature, disproportionate short-limbed [Term] id: HP:0008878 name: Failure to thrive in survivors namespace: medical_genetics xref: UMLS:C0015544 xref: UMLS:C0206194 xref: UMLS:C2364119 is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0008879 name: Relative short stature namespace: medical_genetics xref: UMLS:C0080103 xref: UMLS:C0205345 xref: UMLS:C0349588 xref: UMLS:C1547039 xref: UMLS:C2237041 is_a: HP:0004322 ! Short stature [Term] id: HP:0008880 name: Mild short-limb dwarfism namespace: medical_genetics xref: UMLS:C1851540 is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008881 name: Short limb dwarfism, disproportionate namespace: medical_genetics xref: UMLS:C0205350 xref: UMLS:C1855821 is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008883 name: Mild intrauterine growth retardation namespace: medical_genetics alt_id: HP:0008861 synonym: "Mild prenatal growth deficiency" EXACT [] xref: UMLS:C0015934 xref: UMLS:C0547040 xref: UMLS:C0694756 xref: UMLS:C1840006 xref: UMLS:C1849555 is_a: HP:0001511 ! Intrauterine growth restriction is_a: HP:0001515 ! Prenatal growth deficiency [Term] id: HP:0008884 name: Severe congenital proportionate dwarfism namespace: medical_genetics xref: UMLS:C0009678 xref: UMLS:C0205082 xref: UMLS:C0205351 xref: UMLS:C0856843 xref: UMLS:C1519275 xref: UMLS:C1744681 xref: UMLS:C1855090 is_a: HP:0003504 ! Proportionate dwarfism [Term] id: HP:0008887 name: Adipose tissue loss namespace: medical_genetics alt_id: HP:0008938 synonym: "Marked lack of adipose tissue" EXACT [] xref: UMLS:C0001527 xref: UMLS:C0332268 xref: UMLS:C0522501 xref: UMLS:C1517945 xref: UMLS:C1706089 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0008888 name: Variable short stature namespace: medical_genetics xref: UMLS:C1855085 is_a: HP:0004322 ! Short stature [Term] id: HP:0008890 name: Severe short-limb dwarfism namespace: medical_genetics xref: UMLS:C1860105 is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008892 name: Variable prenatal growth deficiency namespace: medical_genetics xref: UMLS:C1855336 is_a: HP:0001515 ! Prenatal growth deficiency [Term] id: HP:0008893 name: Growth retardation, prenatal and postnatal namespace: medical_genetics alt_id: HP:0008870 alt_id: HP:0008886 alt_id: HP:0008926 def: "A deficiency or slowing down of growth pre- and postnatally." [HPO:curators] synonym: "Pre- and postnatal growth deficiency" EXACT [] synonym: "Pre- and postnatal growth retardation" EXACT [] synonym: "Pre-and postnatal growth retardation" EXACT [] xref: UMLS:C0033052 xref: UMLS:C0151686 xref: UMLS:C0332152 xref: UMLS:C0443281 xref: UMLS:C0678804 xref: UMLS:C0740175 xref: UMLS:C1842323 xref: UMLS:C1865007 xref: UMLS:C2257086 is_a: HP:0001515 ! Prenatal growth deficiency [Term] id: HP:0008894 name: Short-limb dwarfism identifiable neonatally namespace: medical_genetics xref: UMLS:C1855197 is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008895 name: Short stature, severe disproportionate namespace: medical_genetics alt_id: HP:0008900 synonym: "Severely disproportionate short stature" EXACT [] xref: UMLS:C0205082 xref: UMLS:C0205350 xref: UMLS:C0349588 xref: UMLS:C1519275 xref: UMLS:C1865188 xref: UMLS:C2237041 is_a: HP:0003498 ! Short stature, disproportionate is_a: HP:0003510 ! Short stature, severe [Term] id: HP:0008896 name: Mesomelic dwarfism namespace: medical_genetics xref: UMLS:C0410536 is_a: HP:0001516 ! Dwarfism [Term] id: HP:0008897 name: Growth retardation, progressive namespace: medical_genetics xref: UMLS:C0151686 xref: UMLS:C0205329 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008898 name: Lethal dwarfism identifiable at birth namespace: medical_genetics xref: UMLS:C0005615 xref: UMLS:C0013336 xref: UMLS:C0205396 xref: UMLS:C1550722 xref: UMLS:C1705683 is_a: HP:0001516 ! Dwarfism [Term] id: HP:0008901 name: Mild-to-moderate growth deficiency namespace: medical_genetics xref: UMLS:C1844839 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008902 name: Dwarfism, neonatal short-limbed namespace: medical_genetics xref: UMLS:C0013336 xref: UMLS:C0021289 xref: UMLS:C0239399 xref: UMLS:C1552240 xref: UMLS:C1552264 is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008903 name: Mesomelic short stature namespace: medical_genetics xref: UMLS:C0349588 xref: UMLS:C0549306 xref: UMLS:C2237041 is_a: HP:0003027 ! Mesomelia [Term] id: HP:0008904 name: Increased upper to lower segment ratio namespace: medical_genetics xref: UMLS:C0205217 xref: UMLS:C0441635 xref: UMLS:C0441994 xref: UMLS:C0442805 xref: UMLS:C0456603 xref: UMLS:C1282910 xref: UMLS:C1547037 is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0008905 name: Rhizomelic short stature namespace: medical_genetics xref: UMLS:C1866730 is_a: HP:0002968 ! Rhizomelic shortening [Term] id: HP:0008907 name: Dwarfism, birth weight normal namespace: medical_genetics xref: UMLS:C0005612 xref: UMLS:C0013336 xref: UMLS:C0205307 xref: UMLS:C0439166 xref: UMLS:C2347086 is_a: HP:0001516 ! Dwarfism [Term] id: HP:0008908 name: Variable mild short stature namespace: medical_genetics xref: UMLS:C0439828 xref: UMLS:C0547040 xref: UMLS:C1705098 xref: UMLS:C1833000 xref: UMLS:C1855085 is_a: HP:0003502 ! Mild short stature [Term] id: HP:0008909 name: Lethal short-limbed dwarfism namespace: medical_genetics xref: UMLS:C1843097 is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008910 name: Dwarfism, short limb mesomelic namespace: medical_genetics xref: UMLS:C0013336 xref: UMLS:C0239399 xref: UMLS:C0549306 is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008911 name: Severe growth retardation from infancy namespace: medical_genetics xref: UMLS:C0151686 xref: UMLS:C0205082 xref: UMLS:C0231330 xref: UMLS:C1519275 is_a: HP:0001521 ! Severe growth retardation [Term] id: HP:0008915 name: Truncal obesity apparent in childhood namespace: medical_genetics xref: UMLS:C0231335 xref: UMLS:C0311277 xref: UMLS:C0750489 is_a: HP:0001956 ! Truncal obesity [Term] id: HP:0008916 name: Postnatal failure to thrive namespace: medical_genetics xref: UMLS:C1838628 is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0008917 name: Postnatal onset of mild growth retardation namespace: medical_genetics xref: UMLS:C0332162 xref: UMLS:C0443281 xref: UMLS:C1849555 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008918 name: Growth retardation as children namespace: medical_genetics xref: UMLS:C0008059 xref: UMLS:C0151686 xref: UMLS:C0680063 is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008919 name: Birth weight less than 3rd percentile namespace: medical_genetics alt_id: HP:0008927 synonym: "Birth weight < 3rd percentile" EXACT [] xref: UMLS:C0005612 xref: UMLS:C0205437 xref: UMLS:C1264641 is_a: HP:0001518 ! Low birth weight is_a: HP:0001826 ! Weight less than 3rd percentile [Term] id: HP:0008921 name: Neonatal short-limbed dwarfism namespace: medical_genetics xref: UMLS:C1857107 is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008922 name: Short-trunk dwarfism identifiable during childhood namespace: medical_genetics xref: UMLS:C0205396 xref: UMLS:C0231335 xref: UMLS:C1705683 xref: UMLS:C1854763 is_a: HP:0003500 ! Short-trunked dwarfism [Term] id: HP:0008923 name: Severe short-trunked dwarfism namespace: medical_genetics xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1854763 is_a: HP:0003500 ! Short-trunked dwarfism [Term] id: HP:0008924 name: Severe short-limb dwarfism at birth namespace: medical_genetics xref: UMLS:C0005615 xref: UMLS:C1550722 xref: UMLS:C1860105 is_a: HP:0001536 ! Short-limb dwarfism identifiable at birth [Term] id: HP:0008925 name: Failure to thrive in male infants namespace: medical_genetics xref: UMLS:C0015544 xref: UMLS:C2216472 xref: UMLS:C2364119 is_a: HP:0001531 ! Failure to thrive in infancy [Term] id: HP:0008928 name: Disproportionate short-limb dwarfism namespace: medical_genetics xref: UMLS:C0205350 xref: UMLS:C1855821 is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008929 name: Asymmetric short stature namespace: medical_genetics xref: UMLS:C0332514 xref: UMLS:C0349588 xref: UMLS:C2237041 is_a: HP:0004322 ! Short stature [Term] id: HP:0008930 name: Dwarfism recognizable at birth namespace: medical_genetics xref: UMLS:C0005615 xref: UMLS:C0013336 xref: UMLS:C0524637 xref: UMLS:C1550722 is_a: HP:0001516 ! Dwarfism [Term] id: HP:0008935 name: Hypotonia, neonatal, generalized namespace: medical_genetics xref: UMLS:C0021289 xref: UMLS:C0026827 xref: UMLS:C0205246 xref: UMLS:C1552240 xref: UMLS:C1552264 is_a: HP:0001319 ! Neonatal hypotonia [Term] id: HP:0008936 name: Muscular hypotonia of the trunk namespace: medical_genetics 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:C0026827 xref: UMLS:C0460005 xref: UMLS:C1280632 xref: UMLS:C1837620 xref: UMLS:C1853743 is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0008937 name: Mild distal muscle atrophy namespace: medical_genetics def: "Mild degree of muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] xref: UMLS:C1853559 is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0008940 name: Generalized lymphadenopathy namespace: medical_genetics def: "A generalized form of `lymphadenopathy` (HP:0002716)." [HPO:probinson] xref: UMLS:C0476486 is_a: HP:0002716 ! Lymphadenopathy [Term] id: HP:0008942 name: Rhabdomyolysis, acute namespace: medical_genetics xref: UMLS:C0035410 xref: UMLS:C0205178 is_a: HP:0003201 ! Rhabdomyolysis [Term] id: HP:0008944 name: Distal lower limb muscle weakness and atrophy namespace: medical_genetics def: "Amyotrophy of distal lower leg muscles with resultant weakness." [HPO:curators] comment: This is a bundled term that needs to be made obsolete or revised. xref: UMLS:C0333641 xref: UMLS:C1836450 is_a: HP:0003746 ! Amyotrophy involving the lower limbs [Term] id: HP:0008945 name: Loss of ability to walk in early childhood namespace: medical_genetics xref: UMLS:C0080331 xref: UMLS:C0085732 xref: UMLS:C0599196 xref: UMLS:C0600108 xref: UMLS:C1517945 xref: UMLS:C2346415 xref: UMLS:C2368355 is_a: HP:0006915 ! Inability to walk by childhood/adolescence [Term] id: HP:0008946 name: Pelvic girdle weakness and atrophy namespace: medical_genetics xref: UMLS:C0333641 xref: UMLS:C0427064 is_a: HP:0003749 ! Pelvic girdle muscle weakness [Term] id: HP:0008947 name: Infantile muscular hypotonia namespace: medical_genetics 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:C0026827 xref: UMLS:C0231330 xref: UMLS:C1279919 xref: UMLS:C1845057 is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0008948 name: Proximal upper limb muscle atrophy namespace: medical_genetics alt_id: HP:0008995 def: "Muscular atrophy affecting proximally located muscles of the arms." [HPO:curators] synonym: "Proximal muscle atrophy in upper limbs" EXACT [] xref: UMLS:C1140618 xref: UMLS:C1836768 xref: UMLS:C1850794 is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008949 name: Muscle atrophy, lower limb, distal namespace: medical_genetics def: "Muscular atrophy affecting muscles in the distal portions of the lower extremities." [HPO:curators] xref: UMLS:C0023216 xref: UMLS:C0026846 xref: UMLS:C0205108 xref: UMLS:C1269079 is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0008952 name: Shoulder muscle hypoplasia namespace: medical_genetics def: "Underdevelopment of muscles of the shoulder." [HPO:curators] xref: UMLS:C1969001 is_a: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature [Term] id: HP:0008953 name: Pectoralis major muscle hypoplasia namespace: medical_genetics def: "Underdevelopment of the pectoralis major muscle." [HPO:curators] xref: UMLS:C1840086 is_a: HP:0009131 ! Abnormality of the musculature of the thorax [Term] id: HP:0008954 name: Intrinsic hand muscles weakness and atrophy namespace: medical_genetics xref: UMLS:C0004093 xref: UMLS:C0205102 xref: UMLS:C0239831 xref: UMLS:C0333641 xref: UMLS:C0439674 xref: UMLS:C0448447 xref: UMLS:C1883552 xref: UMLS:C2364118 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0008955 name: Progressive distal muscular atrophy namespace: medical_genetics def: "Progressive muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] xref: UMLS:C0205108 xref: UMLS:C0205329 xref: UMLS:C0917981 xref: UMLS:C1866752 is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0008956 name: Proximal lower limb muscle atrophy namespace: medical_genetics def: "Muscular atrophy affecting proximally located muscles of the legs." [HPO:curators] xref: UMLS:C1836767 is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008957 name: Progressive scapuloperoneal atrophy namespace: medical_genetics xref: UMLS:C1265895 is_a: HP:0003697 ! Scapuloperoneal atrophy [Term] id: HP:0008959 name: Distal weakness in arms then legs namespace: medical_genetics xref: UMLS:C0004093 xref: UMLS:C0205108 xref: UMLS:C0446516 xref: UMLS:C1140621 xref: UMLS:C1883552 xref: UMLS:C1883708 xref: UMLS:C2364118 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0008960 name: Mitochondrial myopathy, severe namespace: medical_genetics xref: UMLS:C0162670 xref: UMLS:C0205082 xref: UMLS:C1519275 is_a: HP:0003737 ! Mitochondrial myopathy [Term] id: HP:0008961 name: Proximal muscle weakness and wasting namespace: medical_genetics xref: UMLS:C0221629 xref: UMLS:C0235394 is_a: HP:0001324 ! Muscle weakness is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008962 name: Hypoplastic calf muscles namespace: medical_genetics xref: UMLS:C1852618 is_a: HP:0001430 ! Abnormality of the calf musculature [Term] id: HP:0008963 name: Tibialis weakness and atrophy namespace: medical_genetics def: "Muscle weakness and atrophy affecting the tibialis anterior muscle." [HPO:curators] comment: This is a bundled term which should be made obsolete. xref: UMLS:C0004093 xref: UMLS:C0333641 xref: UMLS:C1710422 xref: UMLS:C1883552 xref: UMLS:C2364118 is_a: HP:0006940 ! Distal muscle weakness and atrophy [Term] id: HP:0008964 name: Nonprogressive muscular atrophy namespace: medical_genetics def: "Muscular atrophy that does not display a progression in severity with time." [HPO:curators] xref: UMLS:C0026846 xref: UMLS:C1864820 is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0008965 name: Slowly progressive proximal muscle weakness namespace: medical_genetics def: "Lack of strength of the proximal muscles that slowly becomes more severe." [HPO:curators] xref: UMLS:C1848147 is_a: HP:0009073 ! Muscle weakness, progressive, proximal [Term] id: HP:0008967 name: Exercise-induced muscle stiffness namespace: medical_genetics alt_id: HP:0003633 synonym: "Muscle stiffness with exercise" EXACT [] synonym: "Muscle stiffness, exercise-induced" EXACT [] xref: UMLS:C0015259 xref: UMLS:C0221170 xref: UMLS:C0239313 xref: UMLS:C1522704 xref: UMLS:C1855579 is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0008968 name: Muscle hypertrophy of the lower extremities namespace: medical_genetics def: "Muscle hypertrophy primarily affecting the legs." [HPO:curators] xref: UMLS:C0023216 xref: UMLS:C0236033 is_a: HP:0003712 ! Muscle hypertrophy [Term] id: HP:0008969 name: Leg muscle stiffness namespace: medical_genetics xref: UMLS:C0023216 xref: UMLS:C0026845 xref: UMLS:C0221170 xref: UMLS:C0224456 xref: UMLS:C0427008 xref: UMLS:C1140621 xref: UMLS:C1269079 xref: UMLS:C1969552 is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0008970 name: Scapulohumeral muscular dystrophy namespace: medical_genetics xref: UMLS:C0410192 is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0008972 name: Decreased activities of mitochondrial-encoded respiratory chain complexes namespace: medical_genetics xref: UMLS:C0086439 xref: UMLS:C0439855 xref: UMLS:C0679058 xref: UMLS:C1325653 xref: UMLS:C1547699 is_a: HP:0008347 ! Decreased activity of mitochondrial respiratory complexes i, ii+iii, and iv [Term] id: HP:0008977 name: Moderate diffuse skeletal muscle wasting namespace: medical_genetics def: "Moderately severe, diffuse atrophy of the skeletal muscle." [HPO:curators] xref: UMLS:C0037253 xref: UMLS:C0205081 xref: UMLS:C0521324 xref: UMLS:C1858026 xref: UMLS:C1881878 is_a: HP:0008987 ! Muscle atrophy, diffuse [Term] id: HP:0008978 name: Necrotizing myopathy namespace: medical_genetics xref: UMLS:C0026848 xref: UMLS:C0439664 is_a: HP:0003198 ! Myopathy [Term] id: HP:0008979 name: Muscle weakness, severe namespace: medical_genetics alt_id: HP:0009061 synonym: "Severe muscle weakness" EXACT [] xref: UMLS:C0151786 xref: UMLS:C0205082 xref: UMLS:C1519275 xref: UMLS:C1842902 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0008980 name: Symmetric proximal muscular atrophy namespace: medical_genetics alt_id: HP:0008943 def: "Muscular atrophy affecting proximally located muscles of the arms in a symmetric fashion." [HPO:curators] synonym: "Symmetrical, proximal limb muscle atrophy" EXACT [] xref: UMLS:C0015385 xref: UMLS:C0332516 xref: UMLS:C1280090 xref: UMLS:C1850794 is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008981 name: Muscular hypertrophy, esp calf muscles namespace: medical_genetics def: "Muscle hypertrophy primarily affecting the calf muscles." [HPO:curators] xref: UMLS:C0015373 xref: UMLS:C0037747 xref: UMLS:C0448482 xref: UMLS:C1269903 xref: UMLS:C1421982 xref: UMLS:C1850647 is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities [Term] id: HP:0008983 name: Muscle pain and cramps following exercise namespace: medical_genetics xref: UMLS:C0015259 xref: UMLS:C0026821 xref: UMLS:C0231528 xref: UMLS:C1522704 xref: UMLS:C1719822 xref: UMLS:C1963177 is_a: HP:0003710 ! Muscle cramps with exercise [Term] id: HP:0008984 name: Neck muscle hypoplasia namespace: medical_genetics def: "Underdevelopment of muscles of the neck." [HPO:curators] xref: UMLS:C1969000 is_a: HP:0001460 ! Aplasia/Hypoplasia involving the musculature [Term] id: HP:0008985 name: Increased intramuscular fat namespace: medical_genetics def: "An abnormal increase in the amount of intramuscular fat tissue." [HPO:curators] xref: UMLS:C1835389 is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0008986 name: Agenesis of the diaphragm namespace: medical_genetics def: "Congenital lack, i.e., `aplasia` (MPATH:58) of the `diaphragm` (FMA:13295)." [HPO:probinson] synonym: "Agenesis of diaphragm" RELATED [] xref: UMLS:C0000846 xref: UMLS:C0011980 xref: UMLS:C0042241 xref: UMLS:C0332907 xref: UMLS:C1279038 xref: UMLS:C1705367 xref: UMLS:C1705368 xref: UMLS:C2119045 is_a: HP:0010315 ! Aplasia/Hypoplasia of the diaphragm [Term] id: HP:0008987 name: Muscle atrophy, diffuse namespace: medical_genetics def: "Diffuse (unlocalized) atrophy of the skeletal muscle." [HPO:curators] xref: UMLS:C0026846 xref: UMLS:C0205219 is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0008988 name: Pelvic girdle muscle atrophy namespace: medical_genetics 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:C0235394 xref: UMLS:C0240679 xref: UMLS:C0453903 xref: UMLS:C0828918 xref: UMLS:C1456255 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: Leg cramps may occur with exercise namespace: medical_genetics xref: UMLS:C0015259 xref: UMLS:C0023218 xref: UMLS:C1522704 xref: UMLS:C1709305 is_a: HP:0003710 ! Muscle cramps with exercise [Term] id: HP:0008993 name: Increased intraabdominal fat namespace: medical_genetics def: "An abnormal increase in the amount of intraabdominal fat tissue." [HPO:curators] xref: UMLS:C1835390 is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0008994 name: Proximal muscle weakness in lower limbs namespace: medical_genetics alt_id: HP:0008941 def: "A lack of strength of the proximal muscles of the legs." [HPO:curators] synonym: "Muscle weakness, proximal, lower limbs" EXACT [] xref: UMLS:C0023216 xref: UMLS:C0151786 xref: UMLS:C0205107 xref: UMLS:C0221629 is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0008997 name: Proximal muscle weakness in upper limbs namespace: medical_genetics def: "A lack of strength of the proximal muscles of the arms." [HPO:curators] xref: UMLS:C0221629 xref: UMLS:C1140618 is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0008998 name: Pectoralis hypoplasia namespace: medical_genetics xref: UMLS:C1846477 is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia [Term] id: HP:0008999 name: Hip girdle muscle weakness namespace: medical_genetics xref: UMLS:C1834660 is_a: HP:0001324 ! Muscle weakness is_a: HP:0001445 ! Abnormality of the hip-girdle musculature [Term] id: HP:0009000 name: Variable muscle cramps on exertion namespace: medical_genetics xref: UMLS:C0015264 xref: UMLS:C0026821 xref: UMLS:C0439828 xref: UMLS:C1705098 is_a: HP:0003710 ! Muscle cramps with exercise [Term] id: HP:0009001 name: Lower limb muscle hypotrophy namespace: medical_genetics xref: UMLS:C1845256 is_a: HP:0003746 ! Amyotrophy involving the lower limbs [Term] id: HP:0009002 name: Loss of subcutaneous truncal adipose tissue namespace: medical_genetics alt_id: HP:0008989 synonym: "Loss of truncal adipose tissue" EXACT [] xref: UMLS:C0001527 xref: UMLS:C0222331 xref: UMLS:C0460005 xref: UMLS:C1280632 xref: UMLS:C1517945 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0009003 name: Increased subcutaneous truncal adipose tissue namespace: medical_genetics def: "The presence of an abnormally increased amount of subcutaneous adipose tissue in the trunk of the body." [HPO:curators] xref: UMLS:C1837781 is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0009004 name: Muscle hypoplasia namespace: medical_genetics def: "Underdevelopment of the musculature." [HPO:curators] xref: UMLS:C0240414 is_a: HP:0001460 ! Aplasia/Hypoplasia involving the musculature [Term] id: HP:0009005 name: Weakness of the intrinsic hand muscles namespace: medical_genetics xref: UMLS:C0004093 xref: UMLS:C0448447 xref: UMLS:C1883552 xref: UMLS:C2364118 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0009006 name: Muscle biopsy shows decrease or absence of cytochrome C oxidase namespace: medical_genetics xref: UMLS:C0010760 xref: UMLS:C0185283 xref: UMLS:C0392756 xref: UMLS:C0547047 xref: UMLS:C0587033 xref: UMLS:C1536372 xref: UMLS:C1547282 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0003688 ! Muscle biopsy shows decreased activity of cytochrome C oxidase [Term] id: HP:0009007 name: Hypoplastic biceps namespace: medical_genetics def: "Underdevelopment of the biceps muscle." [HPO:curators] xref: UMLS:C1862499 is_a: HP:0009016 ! Upper limb muscle hypoplasia is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps [Term] id: HP:0009008 name: Distal muscle weakness, mild namespace: medical_genetics def: "A mild degree of reduced strength of the distal musculature." [HPO:curators] xref: UMLS:C0427065 xref: UMLS:C0547040 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0009009 name: Shoulder weakness and atrophy namespace: medical_genetics xref: UMLS:C0333641 xref: UMLS:C0748691 is_a: HP:0003547 ! Shoulder girdle muscle weakness [Term] id: HP:0009010 name: Muscle hypotrophy namespace: medical_genetics xref: UMLS:C0026845 is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0009011 name: Hypoplasia of serratus anterior muscle namespace: medical_genetics def: "Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula." [HPO:curators] xref: UMLS:C0224349 xref: UMLS:C0243069 xref: UMLS:C0543481 is_a: HP:0009131 ! Abnormality of the musculature of the thorax [Term] id: HP:0009012 name: Muscle weakness and atrophy namespace: medical_genetics xref: UMLS:C0151786 xref: UMLS:C0333641 is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0009013 name: Congenital absence of gluteal muscles namespace: medical_genetics xref: UMLS:C0332907 xref: UMLS:C0448475 xref: UMLS:C1305729 xref: UMLS:C1744702 is_a: HP:0001443 ! Abnormality of the gluteal musculature is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis [Term] id: HP:0009014 name: Muscle stiffness or aching namespace: medical_genetics xref: UMLS:C0221170 xref: UMLS:C0234238 is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0009016 name: Upper limb muscle hypoplasia namespace: medical_genetics def: "Underdevelopment of muscles of the arm." [HPO:curators] xref: UMLS:C1846478 is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs [Term] id: HP:0009017 name: Loss of subcutaneous adipose tissue from gluteal region namespace: medical_genetics xref: UMLS:C0006497 xref: UMLS:C0222331 xref: UMLS:C0282082 xref: UMLS:C1517945 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0009018 name: Generalized muscle cramps namespace: medical_genetics xref: UMLS:C0026821 xref: UMLS:C0205246 is_a: HP:0003394 ! Muscle cramps [Term] id: HP:0009019 name: Loss of subcutaneous adipose tissue from face, progressive namespace: medical_genetics xref: UMLS:C0015450 xref: UMLS:C0205329 xref: UMLS:C0222331 xref: UMLS:C1281591 xref: UMLS:C1517945 is_a: HP:0000292 ! Loss of facial adipose tissue [Term] id: HP:0009020 name: Exercise-induced muscle fatigue namespace: medical_genetics def: "An abnormally increased tendency towards muscle fatigue induced by physical exercise." [HPO:curators] xref: UMLS:C1855580 is_a: HP:0003750 ! Increased muscle fatiguability [Term] id: HP:0009021 name: EMG shows myopathic changes early in disease namespace: medical_genetics xref: UMLS:C0012634 xref: UMLS:C0013839 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C1279919 xref: UMLS:C1547282 xref: UMLS:C1705241 is_a: HP:0003322 ! EMG shows myopathic changes [Term] id: HP:0009023 name: Abdominal wall muscle weakness namespace: medical_genetics alt_id: HP:0004873 def: "`Decreased strength` (PATO:0001779) of the `abdominal musculature` (FMA:86917)." [HPO:probinson] synonym: "Lax abdominal musculature" EXACT [] xref: UMLS:C0000739 xref: UMLS:C0004093 xref: UMLS:C0026845 xref: UMLS:C1279385 xref: UMLS:C1283897 xref: UMLS:C1855312 xref: UMLS:C1866945 xref: UMLS:C1883552 xref: UMLS:C2364118 is_a: HP:0001324 ! Muscle weakness is_a: HP:0010991 ! Abnormality of the abdominal musculature [Term] id: HP:0009024 name: Calf muscle hypertrophy namespace: medical_genetics xref: UMLS:C1842554 is_a: HP:0003703 ! Calf hypertrophy [Term] id: HP:0009025 name: Increased connective tissue namespace: medical_genetics def: "The presence of an abnormally increased amount of connective tissue." [HPO:curators] xref: UMLS:C1866021 is_a: HP:0003549 ! Abnormality of connective tissue [Term] id: HP:0009026 name: Hypoplasia of latissimus dorsi muscle namespace: medical_genetics 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] xref: UMLS:C0224362 xref: UMLS:C0243069 xref: UMLS:C0543481 is_a: HP:0009131 ! Abnormality of the musculature of the thorax [Term] id: HP:0009027 name: Foot dorsiflexor weakness namespace: medical_genetics 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] xref: UMLS:C1866141 is_a: HP:0001436 ! Abnormality of the foot musculature [Term] id: HP:0009028 name: Generalized weakness of limb muscles namespace: medical_genetics def: "Generalized weakness of the muscles of the arms and legs." [HPO:curators] xref: UMLS:C0004093 xref: UMLS:C0015385 xref: UMLS:C0026845 xref: UMLS:C1280090 xref: UMLS:C1883552 xref: UMLS:C1995013 is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0009030 name: Difficulty walking, running namespace: medical_genetics xref: UMLS:C0035953 xref: UMLS:C0311394 xref: UMLS:C2346414 is_a: HP:0002355 ! Difficulty walking [Term] id: HP:0009031 name: Atrophy of ankle and toe extensor muscles namespace: medical_genetics xref: UMLS:C0003086 xref: UMLS:C0003087 xref: UMLS:C0039316 xref: UMLS:C0040357 xref: UMLS:C0333641 xref: UMLS:C0682594 xref: UMLS:C1281589 xref: UMLS:C1283839 is_a: HP:0001436 ! Abnormality of the foot musculature [Term] id: HP:0009033 name: Proximal muscle weakness, mild namespace: medical_genetics alt_id: HP:0008950 alt_id: HP:0008975 def: "Mild lack of strength affecting the proximal musculature." [HPO:curators] synonym: "Mild proximal muscle weakness" EXACT [] synonym: "Mild proximal weakness" EXACT [] xref: UMLS:C0004093 xref: UMLS:C0205107 xref: UMLS:C0221629 xref: UMLS:C0547040 xref: UMLS:C1843869 xref: UMLS:C1883552 xref: UMLS:C2364118 is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0009034 name: Poorly developed skeletal musculature namespace: medical_genetics def: "Poor development of the skeletal muscles." [HPO:curators] xref: UMLS:C0205169 xref: UMLS:C0242692 xref: UMLS:C1999145 is_a: HP:0001460 ! Aplasia/Hypoplasia involving the musculature [Term] id: HP:0009035 name: Distal muscle weakness in lower limbs, severe namespace: medical_genetics def: "Severely reduced strength of the distal musculature of the legs." [HPO:curators] xref: UMLS:C0023216 xref: UMLS:C0205082 xref: UMLS:C0427065 xref: UMLS:C1519275 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0009037 name: Segmental spinal muscular atrophy namespace: medical_genetics xref: UMLS:C1866774 is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0009042 name: Marked muscular hypertrophy namespace: medical_genetics def: "Severe hypertrophy (increase in size) of muscle cells." [HPO:curators] xref: UMLS:C1846013 is_a: HP:0003712 ! Muscle hypertrophy [Term] id: HP:0009044 name: Hypoplasia of deltoid muscle namespace: medical_genetics alt_id: HP:0009039 def: "Underdevelopment of the deltoid muscle." [HPO:curators] synonym: "Deltoid muscle hypoplasia" EXACT [] xref: UMLS:C0224234 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1868170 is_a: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature [Term] id: HP:0009045 name: Rhabdomyolysis with exercise namespace: medical_genetics xref: UMLS:C0015259 xref: UMLS:C0035410 xref: UMLS:C1522704 is_a: HP:0003201 ! Rhabdomyolysis [Term] id: HP:0009046 name: Difficulty walking, running, climbing stairs namespace: medical_genetics xref: UMLS:C0035953 xref: UMLS:C0311394 xref: UMLS:C1710179 xref: UMLS:C2346414 xref: UMLS:C2362653 xref: UMLS:C2584300 is_a: HP:0007019 ! Difficulty walking and climbing stairs [Term] id: HP:0009049 name: Peroneal muscle atrophy namespace: medical_genetics 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` (FMA:22540), and `Peroneus tertius (also known as fibularis tertius` (FMA:22538)." [HPO:probinson] comment: The peroneus muscles (longus, brevis, and tertius) originate on the fibula and insert on the metatarsals. synonym: "Peroneal atrophy" EXACT [] synonym: "Peroneal muscle atrophy and weakness" EXACT [] xref: UMLS:C0004093 xref: UMLS:C0007959 xref: UMLS:C0333641 xref: UMLS:C0442035 xref: UMLS:C1883552 xref: UMLS:C2364118 is_a: HP:0001430 ! Abnormality of the calf musculature [Term] id: HP:0009050 name: Quadriceps muscle atrophy namespace: medical_genetics def: "Muscular atrophy involving the quadriceps muscle." [HPO:curators] xref: UMLS:C1842818 is_a: HP:0003748 ! Amyotrophy of the thigh musculature [Term] id: HP:0009051 name: Increased muscle glycogen content namespace: medical_genetics def: "An increased amount of glycogen, which functions as a secondary short term energy storage in several organs, in muscle tissue." [HPO:curators] xref: UMLS:C1968729 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0009053 name: Muscle weakness, lower limb, distal namespace: medical_genetics def: "Weakness of the distal muscles of the legs." [HPO:curators] xref: UMLS:C0023216 xref: UMLS:C0151786 xref: UMLS:C0205108 xref: UMLS:C1269079 is_a: HP:0007340 ! Lower limb muscle weakness [Term] id: HP:0009054 name: Scapuloperoneal myopathy namespace: medical_genetics xref: UMLS:C0751337 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 namespace: medical_genetics def: "Generalized atrophy affecting muscles of the limbs." [HPO:curators] xref: UMLS:C1838114 is_a: HP:0003700 ! Generalized amyotrophy [Term] id: HP:0009056 name: Loss of subcutaneous adipose tissue from upper limbs and trunk namespace: medical_genetics xref: UMLS:C0222331 xref: UMLS:C0460005 xref: UMLS:C1140618 xref: UMLS:C1280632 xref: UMLS:C1517945 is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0009057 name: Progressive distal muscle weakness and atrophy namespace: medical_genetics alt_id: HP:0008933 synonym: "Progressive distal weakness and amyotrophy" EXACT [] xref: UMLS:C0004093 xref: UMLS:C0026846 xref: UMLS:C0205108 xref: UMLS:C0205329 xref: UMLS:C0333641 xref: UMLS:C1836609 xref: UMLS:C1883552 xref: UMLS:C2364118 is_a: HP:0006940 ! Distal muscle weakness and atrophy [Term] id: HP:0009058 name: Lipid accumulation in skeletal muscle namespace: medical_genetics def: "An abnormal accumulation of lipids in skeletal muscle." [HPO:curators] xref: UMLS:C0242692 xref: UMLS:C1280260 xref: UMLS:C1843926 is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0009059 name: Congenital generalized lipodystrophy namespace: medical_genetics xref: UMLS:C0221032 is_a: HP:0009125 ! Lipodystrophy [Term] id: HP:0009060 name: Scapular muscle atrophy namespace: medical_genetics 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] xref: UMLS:C0026846 xref: UMLS:C0036277 xref: UMLS:C1281575 is_a: HP:0001465 ! Amyotrophy involving the shoulder musculature [Term] id: HP:0009062 name: Hypotonia, axial, in infancy namespace: medical_genetics def: "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy." [HPO:curators] xref: UMLS:C0026827 xref: UMLS:C0205131 xref: UMLS:C0231330 is_a: HP:0008936 ! Muscular hypotonia of the trunk is_a: HP:0008947 ! Infantile muscular hypotonia [Term] id: HP:0009063 name: Muscle weakness, distal, progressive namespace: medical_genetics alt_id: HP:0009022 def: "Progressively reduced strength of the distal musculature." [HPO:curators] synonym: "Muscle weakness, progressive, distal" EXACT [] xref: UMLS:C0151786 xref: UMLS:C0205108 xref: UMLS:C0205329 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0009064 name: Generalized lipodystrophy namespace: medical_genetics alt_id: HP:0008966 def: "Generalized degenerative changes of the fat tissue." [HPO:curators] synonym: "Lipodystrophy, generalized" EXACT [] xref: UMLS:C0023787 xref: UMLS:C0205246 xref: UMLS:C0221032 is_a: HP:0009125 ! Lipodystrophy [Term] id: HP:0009067 name: Progressive spinal muscular atrophy namespace: medical_genetics 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 is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0009069 name: Lethal infantile mitochondrial myopathy namespace: medical_genetics xref: UMLS:C1838876 is_a: HP:0003737 ! Mitochondrial myopathy [Term] id: HP:0009070 name: Skeletal muscle tissue shows 14 to 45% depletion of mitochondrial dna namespace: medical_genetics xref: UMLS:C0012929 xref: UMLS:C0242692 xref: UMLS:C0333668 xref: UMLS:C1547282 xref: UMLS:C1819717 xref: UMLS:C1959759 is_a: HP:0009141 ! Depletion of mitochondrial DNA in muscle tissue [Term] id: HP:0009071 name: Inflammatory myopathy namespace: medical_genetics xref: UMLS:C0027121 is_a: HP:0003198 ! Myopathy [Term] id: HP:0009072 name: Hyporeflexia at ankle joints namespace: medical_genetics xref: UMLS:C0003087 xref: UMLS:C0151888 is_a: HP:0002600 ! Hyporeflexia of lower limbs [Term] id: HP:0009073 name: Muscle weakness, progressive, proximal namespace: medical_genetics def: "Lack of strength of the proximal muscles that becomes progressively more severe." [HPO:curators] xref: UMLS:C0151786 xref: UMLS:C0205107 xref: UMLS:C0205329 is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0009074 name: Diffuse muscle atrophy namespace: medical_genetics alt_id: HP:0008996 def: "Diffuse amyotrophy affecting multiple muscles." [HPO:curators] synonym: "Diffuse muscle wasting" EXACT [] xref: UMLS:C1389113 xref: UMLS:C1858026 is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0009075 name: Muscle weakness, predominantly proximal namespace: medical_genetics def: "A lack of strength that predominantly affects the proximal muscles." [HPO:curators] xref: UMLS:C0151786 xref: UMLS:C0205107 xref: UMLS:C0332251 is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0009076 name: Muscle biopsy shows ragged-red fibers with decreased COX activity namespace: medical_genetics xref: UMLS:C0019552 xref: UMLS:C0086439 xref: UMLS:C0185283 xref: UMLS:C0587033 xref: UMLS:C1414304 xref: UMLS:C1514805 xref: UMLS:C1536372 xref: UMLS:C1547282 is_a: HP:0003200 ! Ragged-red muscle fibers [Term] id: HP:0009077 name: Weakness of long finger extensor muscles namespace: medical_genetics xref: UMLS:C0004093 xref: UMLS:C0682594 xref: UMLS:C1858091 xref: UMLS:C1883552 xref: UMLS:C2364118 is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0009080 name: Narrow, high-arched palate namespace: medical_genetics alt_id: HP:0009082 alt_id: HP:0009097 def: "The presence of an abnormally narrow and highly arched palate." [HPO:curators] synonym: "Narrow and high arched palate" EXACT [] synonym: "Narrow, highly arched palate" EXACT [] xref: UMLS:C0240635 xref: UMLS:C0332463 xref: UMLS:C0333164 is_a: HP:0000156 ! High-arched palate [Term] id: HP:0009081 name: Small, irregularly placed teeth namespace: medical_genetics xref: UMLS:C0040426 xref: UMLS:C0205271 xref: UMLS:C0442504 xref: UMLS:C0700321 xref: UMLS:C2239132 is_a: HP:0006316 ! Irregularly spaced teeth [Term] id: HP:0009084 name: Midline notch of upper alveolar ridge namespace: medical_genetics xref: UMLS:C0447412 xref: UMLS:C0549183 xref: UMLS:C1235660 xref: UMLS:C1660780 is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009085 name: Alveolar ridge overgrowth namespace: medical_genetics 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. synonym: "Hypertrophied alveolar ridge" RELATED [] synonym: "Thick alveolar ridges" EXACT [] synonym: "Thickened alveolar ridges" EXACT [] xref: UMLS:C0020564 xref: UMLS:C0447411 xref: UMLS:C1318149 xref: UMLS:C1849265 xref: UMLS:C1850042 xref: UMLS:C1865598 is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009086 name: Thick, everted lower lip namespace: medical_genetics xref: UMLS:C0424485 xref: UMLS:C0441994 xref: UMLS:C1280412 is_a: HP:0000232 ! Everted lower lip vermilion [Term] id: HP:0009087 name: Posteriorly placed tongue namespace: medical_genetics xref: UMLS:C0040408 xref: UMLS:C0205095 xref: UMLS:C0442504 xref: UMLS:C1278913 xref: UMLS:C2137027 is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0009088 name: Speech articulation difficulties namespace: medical_genetics xref: UMLS:C1865313 is_a: HP:0006936 ! Speech difficulties [Term] id: HP:0009090 name: Facial diplegic appearance namespace: medical_genetics xref: UMLS:C0282631 is_a: HP:0001349 ! Facial diplegia [Term] id: HP:0009091 name: Submucous cleft hard palate namespace: medical_genetics 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:curators] xref: UMLS:C0432090 is_a: HP:0000176 ! Submucous cleft palate [Term] id: HP:0009092 name: Progressive alveolar ridge hypertropy namespace: medical_genetics xref: UMLS:C1854934 is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009093 name: Enlarged everted lower lip namespace: medical_genetics xref: UMLS:C0424485 xref: UMLS:C0441994 xref: UMLS:C0442800 xref: UMLS:C1293134 is_a: HP:0000232 ! Everted lower lip vermilion [Term] id: HP:0009094 name: Cleft lower alveolar ridge namespace: medical_genetics xref: UMLS:C0205242 xref: UMLS:C0441994 xref: UMLS:C0447411 xref: UMLS:C1318149 is_a: HP:0010289 ! Alveolar ridge cleft [Term] id: HP:0009095 name: Small, downturned mouth namespace: medical_genetics alt_id: HP:0009096 synonym: "Downturned or small mouth" EXACT [] xref: UMLS:C1837735 is_a: HP:0002714 ! Downturned corners of mouth [Term] id: HP:0009098 name: Chronic oral candidiasis namespace: medical_genetics xref: UMLS:C0006849 xref: UMLS:C0205191 xref: UMLS:C0442027 xref: UMLS:C0857069 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0002728 ! Chronic mucocutaneous candidiasis [Term] id: HP:0009099 name: Median cleft palate namespace: medical_genetics def: "Cleft palate of the midline of the palate." [HPO:curators] xref: UMLS:C1850968 is_a: HP:0000175 ! Cleft palate is_a: HP:0008501 ! Median cleft lip/palate [Term] id: HP:0009100 name: Thick anterior alveolar ridges namespace: medical_genetics xref: UMLS:C1859377 is_a: HP:0009085 ! Alveolar ridge overgrowth [Term] id: HP:0009101 name: Submucous cleft lip namespace: medical_genetics def: "A cleft of the lip with overlying mucous membrane. This may be the source of increased nasal resonance." [HPO:curators] xref: UMLS:C1839277 is_a: HP:0000204 ! Cleft lip is_a: HP:0000208 ! Submucous cleft lip/palate [Term] id: HP:0009102 name: Anterior openbite malocclusion namespace: medical_genetics xref: UMLS:C1837862 is_a: HP:0000689 ! Dental malocclusion [Term] id: HP:0009103 name: Aplasia/Hypoplasia involving the pelvis namespace: medical_genetics xref: UMLS:C0030797 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1279864 xref: UMLS:C1314939 is_a: HP:0002644 ! Abnormality of the pelvis created_by: peter creation_date: 2008-04-04T08:40:00Z [Term] id: HP:0009104 name: Aplasia/Hypoplasia of the pubic bone namespace: medical_genetics xref: UMLS:C0034014 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 is_a: HP:0003172 ! Abnormality of the pubic bones 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 namespace: medical_genetics def: "Abnormal ossification (bone tissue formation) affecting the pubic bone." [HPO:curators] xref: UMLS:C0034014 xref: UMLS:C0231557 is_a: HP:0003172 ! Abnormality of the pubic bones is_a: HP:0009106 ! Abnormal ossification involving the bones of the pelvis created_by: peter creation_date: 2008-04-04T08:41:00Z [Term] id: HP:0009106 name: Abnormal ossification involving the bones of the pelvis namespace: medical_genetics xref: UMLS:C0030797 xref: UMLS:C0231557 xref: UMLS:C0262950 xref: UMLS:C1266909 xref: UMLS:C1279864 xref: UMLS:C1314939 is_a: HP:0002644 ! Abnormality of the pelvis is_a: HP:0004348 ! Abnormality of bone mineral density created_by: peter creation_date: 2008-04-04T08:42:00Z [Term] id: HP:0009107 name: Abnormal ossification involving the femoral head and neck namespace: medical_genetics xref: UMLS:C0015813 xref: UMLS:C0027530 xref: UMLS:C0231557 xref: UMLS:C1281592 xref: UMLS:C1314939 is_a: HP:0003366 ! Abnormality of the femoral neck and head region is_a: HP:0004348 ! Abnormality of bone mineral density created_by: peter creation_date: 2008-04-04T08:42:00Z [Term] id: HP:0009108 name: Aplasia/Hypoplasia involving the femoral head and neck namespace: medical_genetics xref: UMLS:C0015813 xref: UMLS:C0027530 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1281592 xref: UMLS:C1314939 is_a: HP:0003366 ! Abnormality of the femoral neck and head region 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 namespace: medical_genetics xref: UMLS:C0011307 xref: UMLS:C0011980 xref: UMLS:C0042241 xref: UMLS:C1279038 xref: UMLS:C1321798 xref: UMLS:C1522415 xref: UMLS:C1705367 xref: UMLS:C1705368 is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter creation_date: 2008-04-05T10:41:00Z [Term] id: HP:0009110 name: Diaphragmatic eventration namespace: medical_genetics 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: UMLS:C0011980 xref: UMLS:C0011981 xref: UMLS:C0015207 xref: UMLS:C0042241 xref: UMLS:C1279038 xref: UMLS:C1705367 xref: UMLS:C1705368 is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter creation_date: 2008-04-05T10:42:00Z [Term] id: HP:0009112 name: Diaphragmatic defect, often unilateral and left-sided namespace: medical_genetics xref: UMLS:C0205092 xref: UMLS:C0332183 xref: UMLS:C0443246 xref: UMLS:C1848873 is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter creation_date: 2008-04-05T10:43:00Z [Term] id: HP:0009113 name: Diaphragmatic weakness namespace: medical_genetics alt_id: HP:0009111 synonym: "Diaphragmatic paraparesis" EXACT [] xref: UMLS:C0521532 xref: UMLS:C1846833 is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter creation_date: 2008-04-05T10:43:00Z [Term] id: HP:0009114 name: Eventration of the right or both hemidiaphragms namespace: medical_genetics xref: UMLS:C0015207 xref: UMLS:C0205090 xref: UMLS:C1269845 is_a: HP:0009110 ! Diaphragmatic eventration created_by: peter creation_date: 2008-04-05T10:44:00Z [Term] id: HP:0009115 name: Aplasia/Hypoplasia involving the skeleton namespace: medical_genetics xref: UMLS:C0037253 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0816871 xref: UMLS:C1283922 xref: UMLS:C1314939 is_a: HP:0000924 ! Abnormality of the musculoskeletal system created_by: peter creation_date: 2008-04-05T10:53:00Z [Term] id: HP:0009116 name: Aplasia/Hypoplasia involving bones of the skull namespace: medical_genetics xref: UMLS:C0037303 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0262950 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1266909 xref: UMLS:C1314939 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 namespace: medical_genetics def: "Absence or underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] xref: UMLS:C0024947 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1279060 xref: UMLS:C2239124 is_a: HP:0000326 ! Abnormality of the maxilla is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull created_by: peter creation_date: 2008-04-05T10:57:00Z [Term] id: HP:0009118 name: Aplasia/Hypoplasia of the mandible namespace: medical_genetics def: "Absence or underdevelopment of the mandible." [HPO:curators] xref: UMLS:C0024687 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1279059 xref: UMLS:C2239125 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 namespace: medical_genetics xref: UMLS:C0016734 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 is_a: HP:0002687 ! Abnormality of the frontal sinuses is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses created_by: peter creation_date: 2008-04-05T11:00:00Z [Term] id: HP:0009120 name: Aplasia/Hypoplasia involving the sinuses namespace: medical_genetics def: "Absence or underdevelopment of a cranial sinus or sinuses." [HPO:curators] xref: UMLS:C0030471 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1314939 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: Abnormality of the axial skeleton namespace: medical_genetics def: "An abnormality of the axial skeleton, which comprises the skull, the vertebral column, the ribs and the sternum." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0222645 xref: UMLS:C1321508 xref: UMLS:C1704258 is_a: HP:0000924 ! Abnormality of the musculoskeletal system created_by: peter creation_date: 2008-04-05T11:16:00Z [Term] id: HP:0009122 name: Aplasia/Hypoplasia affecting bones of the axial skeleton namespace: medical_genetics def: "Absence or underdevelopment of bones of the axial skeleton." [HPO:curators] xref: UMLS:C0222645 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0262950 xref: UMLS:C0334079 xref: UMLS:C0392760 xref: UMLS:C0543481 xref: UMLS:C1266909 xref: UMLS:C1314939 xref: UMLS:C1321508 is_a: HP:0009115 ! Aplasia/Hypoplasia involving the skeleton is_a: HP:0009121 ! Abnormality of the axial skeleton created_by: peter creation_date: 2008-04-05T11:29:00Z [Term] id: HP:0009123 name: Mixed hypo- and hyperpigmentation of the skin namespace: medical_genetics xref: UMLS:C0162834 xref: UMLS:C0205430 xref: UMLS:C0333912 xref: UMLS:C0444099 xref: UMLS:C1123023 xref: UMLS:C1278993 xref: UMLS:C1962962 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 namespace: medical_genetics def: "An abnormality of `adipose tissue` (FMA)20110), which is loose connective tissue composed of adipocytes." [HPO:curators] synonym: "Abnormality of fatty tissue" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0001527 xref: UMLS:C1704258 is_a: HP:0003549 ! Abnormality of connective tissue created_by: peter creation_date: 2008-04-05T11:40:00Z [Term] id: HP:0009125 name: Lipodystrophy namespace: medical_genetics def: "Degenerative changes of the fat tissue." [HPO:curators] xref: UMLS:C0023787 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 namespace: medical_genetics 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] xref: UMLS:C0001527 xref: UMLS:C0205217 xref: UMLS:C0442805 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0015385 xref: UMLS:C1704258 xref: UMLS:C1995013 is_a: HP:0002813 ! Abnormality of the extremities created_by: peter creation_date: 2008-04-07T02:00:00Z [Term] id: HP:0009128 name: Aplasia/Hypoplasia involving the musculature of the extremities namespace: medical_genetics xref: UMLS:C0015385 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1314939 xref: UMLS:C1995013 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: Amyotrophy involving the upper limbs namespace: medical_genetics def: "Muscular atrophy involving the muscles of the upper limbs." [HPO:curators] xref: UMLS:C0026846 xref: UMLS:C1140618 xref: UMLS:C1314939 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0003671 ! Amyotrophy involving the extremities created_by: peter creation_date: 2008-04-07T05:01:00Z [Term] id: HP:0009130 name: Amyotrophy involving the musculature of the hand namespace: medical_genetics 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 of hand muscles" EXACT [] synonym: "Hand muscle atrophy" EXACT [] synonym: "Hand muscle wasting" EXACT [] synonym: "Hand muscle wasting, bilateral" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0026846 xref: UMLS:C0235394 xref: UMLS:C0238767 xref: UMLS:C0239830 xref: UMLS:C0581668 xref: UMLS:C1281583 xref: UMLS:C1314939 xref: UMLS:C1552914 xref: UMLS:C1995013 is_a: HP:0001421 ! Abnormality of the musculature of the hand is_a: HP:0009129 ! Amyotrophy involving the upper limbs created_by: peter creation_date: 2008-04-07T05:01:00Z [Term] id: HP:0009131 name: Abnormality of the musculature of the thorax namespace: medical_genetics def: "A disease or lesion affecting the muscles of the thorax." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0817096 xref: UMLS:C1269614 xref: UMLS:C1456858 xref: UMLS:C1704258 xref: UMLS:C1995013 is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0003011 ! Abnormality of musculature created_by: peter creation_date: 2008-04-07T05:06:00Z [Term] id: HP:0009132 name: Abnormality of bone mineral density involving tarsal bones namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0005938 xref: UMLS:C0039316 xref: UMLS:C0177804 xref: UMLS:C1314939 xref: UMLS:C1704258 is_a: HP:0001850 ! Abnormality of the tarsal bones is_a: HP:0010675 ! Abnormality of the mineralisation and ossification of bones of the feet created_by: peter creation_date: 2008-04-17T02:39:00Z [Term] id: HP:0009134 name: Osteolysis involving bones of the feet namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0029435 xref: UMLS:C0262950 xref: UMLS:C0347981 xref: UMLS:C1266909 xref: UMLS:C1314939 is_a: HP:0001760 ! Abnormality of the feet 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 namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0262950 xref: UMLS:C0332597 xref: UMLS:C0347981 xref: UMLS:C1266909 xref: UMLS:C1314939 xref: UMLS:C1705960 is_a: HP:0001760 ! Abnormality of the feet created_by: peter creation_date: 2008-04-17T02:45:00Z [Term] id: HP:0009138 name: Synostosis involving bones of the lower limbs namespace: medical_genetics def: "An abnormal union between bones or parts of bones lower limbs." [HPO:sdoelken] xref: UMLS:C0023216 xref: UMLS:C0039093 xref: UMLS:C0262950 xref: UMLS:C0391889 xref: UMLS:C1266909 xref: UMLS:C1314939 xref: UMLS:C1368355 is_a: HP:0100240 ! Synostosis of joints is_a: HP:0100491 ! Abnormality of the joints of the lower limbs created_by: peter creation_date: 2008-04-17T02:51:00Z [Term] id: HP:0009139 name: Osteolysis involving bones of the lower limbs namespace: medical_genetics xref: UMLS:C0023216 xref: UMLS:C0029435 xref: UMLS:C0262950 xref: UMLS:C1266909 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0039093 xref: UMLS:C0262950 xref: UMLS:C0347981 xref: UMLS:C0391889 xref: UMLS:C1266909 xref: UMLS:C1314939 xref: UMLS:C1368355 is_a: HP:0001760 ! Abnormality of the feet 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 namespace: medical_genetics xref: UMLS:C0012929 xref: UMLS:C0026845 xref: UMLS:C0333668 xref: UMLS:C1819717 xref: UMLS:C2328219 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 namespace: medical_genetics xref: UMLS:C0262950 xref: UMLS:C0332597 xref: UMLS:C1140618 xref: UMLS:C1266909 xref: UMLS:C1314939 xref: UMLS:C1705960 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 namespace: medical_genetics xref: UMLS:C0222645 xref: UMLS:C0262950 xref: UMLS:C1266909 xref: UMLS:C1321508 xref: UMLS:C1883702 is_a: HP:0009121 ! Abnormality of the axial skeleton created_by: peter creation_date: 2008-05-02T01:29:00Z [Term] id: HP:0009145 name: Abnormalities of the cerebral arteries namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0000769 xref: UMLS:C0007770 is_a: HP:0002620 ! Systemic artery abnormality is_a: HP:0100659 ! Abnormality of the cerebral vasculature created_by: peter creation_date: 2008-05-02T01:39:00Z [Term] id: HP:0009146 name: Nasal, high-pitched voice namespace: medical_genetics xref: UMLS:C0028429 xref: UMLS:C0241703 xref: UMLS:C0521140 is_a: HP:0001611 ! Nasal speech is_a: HP:0001620 ! High pitched voice created_by: peter creation_date: 2008-05-02T02:30:00Z [Term] id: HP:0009147 name: Enlarged epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205439 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705241 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 namespace: medical_genetics def: "Abnormality of the proximal phalanx of the little (5th) finger." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger." [HPO:sdoelken] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205439 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705241 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C0654162 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0332197 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1839317 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: Aplasia of the middle phalanx of the 5th finger namespace: medical_genetics def: "Absence of the middle phalanx of the little (5th) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 phalanges of the hand created_by: peter creation_date: 2008-12-22T06:08:40Z [Term] id: HP:0009163 name: Abnormal form of the 5th finger namespace: medical_genetics def: "Abnormal form of the 5th finger." [HPO:curators] is_obsolete: true created_by: peter creation_date: 2008-12-22T06:17:30Z [Term] id: HP:0009164 name: Abnormal calcification of the carpal bones namespace: medical_genetics alt_id: HP:0006154 synonym: "Carpal calcifications" EXACT [] xref: UMLS:C0006660 xref: UMLS:C0007285 xref: UMLS:C0175895 xref: UMLS:C0205161 xref: UMLS:C1533591 xref: UMLS:C1879982 xref: UMLS:C1968592 xref: UMLS:C2347472 is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0010660 ! Abnormality of the mineralisation and ossification of bones of the hand is_a: HP:0010766 ! Ectopic calcifications 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 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 namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205439 xref: UMLS:C0332472 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics def: "Increased width of the middle phalanx of the 5th finger." [HPO:curators] synonym: "Wide middle phalanx of the 5th finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0332464 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 phalanges of the hand 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 namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0243067 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1518633 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 namespace: medical_genetics def: "A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0205119 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 namespace: medical_genetics 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 [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0230398 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1521759 xref: UMLS:C1704258 is_a: HP:0004188 ! Abnormality of the 4th finger created_by: doelkens creation_date: 2009-01-05T04:18:24Z [Term] id: HP:0009173 name: Curved middle phalanx of the 5th finger namespace: medical_genetics def: "Curved appearance of the middle phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205439 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Patchy increase in bone density of the middle phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205439 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of the phalanges of the 5th finger is_a: HP:0009848 ! Patchy sclerosis of the middle phalanges of the hand created_by: peter creation_date: 2008-12-29T03:10:34Z [Term] id: HP:0009177 name: Symphalangism of the middle and proximal phalanges of the 5th finger namespace: medical_genetics 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:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205107 xref: UMLS:C0205439 xref: UMLS:C0444598 xref: UMLS:C0576462 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1552826 xref: UMLS:C1836212 xref: UMLS:C1866658 is_a: HP:0006152 ! Proximal symphalangism (hands) is_a: HP:0009178 ! Symphalangism affecting the middle phalanx of the 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 affecting the middle phalanx of the 5th finger namespace: medical_genetics def: "Fusion of the middle phalanx of the 5th finger with another bone." [HPO:curator] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205439 xref: UMLS:C0392760 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 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 affecting the middle phalanges of the hand created_by: peter creation_date: 2008-12-29T03:17:43Z [Term] id: HP:0009179 name: Deviation of the 5th finger namespace: medical_genetics alt_id: HP:0006036 def: "Displacement of the 5th finger from its normal position." [HPO:sdoelken] synonym: "Laterally displaced fifth finger" EXACT [] xref: UMLS:C0012727 xref: UMLS:C0016129 xref: UMLS:C0205093 xref: UMLS:C0205419 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705236 is_a: HP:0004097 ! Deviated fingers 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 namespace: medical_genetics def: "Displacement of the 5th finger towards the ulnar side." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0449752 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009179 ! Deviation of the 5th finger is_a: HP:0009465 ! Ulnar deviation of fingers created_by: peter creation_date: 2008-12-29T03:30:05Z [Term] id: HP:0009182 name: Triangular shaped middle phalanx of the 5th finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205439 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 contractures of the 5th finger namespace: medical_genetics 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:C0009918 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865702 is_a: HP:0004207 ! Abnormality of the 5th finger is_a: HP:0100490 ! Camptodactyly (hands) 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 namespace: medical_genetics def: "Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue." [HPO:curator] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C0932510 xref: UMLS:C1281584 xref: UMLS:C2117118 is_a: HP:0009183 ! Joint contractures of the 5th finger is_a: HP:0009697 ! Contractures 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 namespace: medical_genetics def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue." [HPO:curators] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C0932508 xref: UMLS:C1281584 xref: UMLS:C2117118 is_a: HP:0009183 ! Joint contractures of the 5th finger is_a: HP:0009698 ! Contractures of the proximal interphalangeal joints of the fingers created_by: peter creation_date: 2008-12-29T04:16:58Z [Term] id: HP:0009186 name: Contracture of the metacarpophalangeal joint of the 5th finger namespace: medical_genetics def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue." [HPO:curator] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0025525 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1269602 xref: UMLS:C1281584 xref: UMLS:C2117118 is_a: HP:0009183 ! Joint contractures 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205439 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics def: "Fragmented appearance of the epiphyses of the metacarpals." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0185061 xref: UMLS:C0332472 xref: UMLS:C1269064 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphyses of the metacarpals." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C1846449 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 namespace: medical_genetics def: "Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C1856911 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010660 ! Abnormality of the mineralisation and ossification of bones of the hand 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 namespace: medical_genetics def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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:C0025526 xref: UMLS:C1841685 xref: UMLS:C1860253 xref: UMLS:C1968922 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 namespace: medical_genetics def: "Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C1846803 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: Stippling of the epiphyses of the metacarpals namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C1979978 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0010655 ! Stippling of the epiphyses is_a: HP:0010660 ! Abnormality of the mineralisation and ossification of bones of the hand created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009196 name: Absent metacarpal epiphyses namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0332197 xref: UMLS:C1184744 xref: UMLS:C1269064 xref: UMLS:C1305744 is_a: HP:0004348 ! Abnormality of bone mineral density 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205439 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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 [] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 phalanges of the hand 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 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 namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205439 xref: UMLS:C0332472 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0332197 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205439 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205439 xref: UMLS:C0332472 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 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 namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205439 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705241 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 namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0332197 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205438 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205438 xref: UMLS:C0332472 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 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 namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205438 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705241 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 namespace: medical_genetics def: "Absence of the proximal phalanx of the little (5th) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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: Hypoplastic/small proximal phalanx of the 5th finger namespace: medical_genetics def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C0700321 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger is_a: HP:0009237 ! Hypoplastic/small 5th finger is_a: HP:0010241 ! Hypoplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:01:34Z [Term] id: HP:0009227 name: Broad proximal phalanx of the 5th finger namespace: medical_genetics def: "Increased width of the proximal phalanx of the 5th finger." [HPO:curators] synonym: "Wide proximal phalanx of the 5th finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0332464 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics def: "Curved appearance of the proximal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205439 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0243067 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1518633 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 namespace: medical_genetics def: "Patchy increase in bone density of the proximal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205439 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of the phalanges of the 5th finger is_a: HP:0009856 ! Patchy sclerosis of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009232 name: Symphalangism affecting the proximal phalanx of the 5th finger namespace: medical_genetics def: "Fusion of the proximal phalanx of the 5th finger with another bone." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205439 xref: UMLS:C0392760 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205439 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205439 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0005880 ! Metacarpophalangeal synostoses is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger is_a: HP:0009708 ! Synostosis involving the 5th metacarpal is_a: HP:0100325 ! Metacarpophalangeal Synostosis created_by: doelkens creation_date: 2009-01-05T06:19:01Z [Term] id: HP:0009236 name: Rhomboid or triangular shaped 5th finger proximal phalanx namespace: medical_genetics def: "Rhomboid or triangular shaped 5th (little) finger proximal phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205121 xref: UMLS:C0205439 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1260952 xref: UMLS:C1281584 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: Hypoplastic/small 5th finger namespace: medical_genetics 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 def: "Hypoplastic/small 5th (little) finger." [HPO:curators] synonym: "Fifth finger brachydactyly" EXACT [] synonym: "Hypoplastic phalanges of the little 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:C0023882 xref: UMLS:C0205439 xref: UMLS:C0230403 xref: UMLS:C0239594 xref: UMLS:C0543481 xref: UMLS:C0575827 xref: UMLS:C0700321 xref: UMLS:C1806781 xref: UMLS:C1837680 xref: UMLS:C1841683 xref: UMLS:C1842878 xref: UMLS:C1848845 xref: UMLS:C2350002 is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger is_a: HP:0009381 ! Hypoplastic/small fingers created_by: doelkens creation_date: 2009-01-05T06:54:07Z [Term] id: HP:0009238 name: Aplasia of the 5th finger namespace: medical_genetics def: "Absent 5th (little) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Increased width of the distal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1850630 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 phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009241 name: Bullet-shaped distal phalanx of the 5th finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0243067 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1518633 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 namespace: medical_genetics def: "Patchy increase in bone density of the distal phalanx of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205439 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of the phalanges of the 5th finger is_a: HP:0009840 ! Patchy sclerosis of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009244 name: Symphalangism affecting the distal phalanx of the 5th finger namespace: medical_genetics 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:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205088 xref: UMLS:C0205108 xref: UMLS:C0205439 xref: UMLS:C0332466 xref: UMLS:C0392760 xref: UMLS:C0576463 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1293131 xref: UMLS:C1314939 xref: UMLS:C1705314 xref: UMLS:C1705315 xref: UMLS:C1868573 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 affecting the middle phalanx of the 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1968591 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 namespace: medical_genetics def: "Absence of the distal phalanx of the little (5th) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 phalanges of the hand 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 namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0332197 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205438 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205438 xref: UMLS:C0332472 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 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 namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205438 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705241 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 namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0332197 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205438 xref: UMLS:C0222664 xref: UMLS:C0230398 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1521759 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205438 xref: UMLS:C0332472 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 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 namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205438 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705241 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 namespace: medical_genetics def: "A small/hypoplastic or absent/aplastic 4th (ring) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Displacement of the 4th finger from its normal position." [HPO:curators] xref: UMLS:C0012727 xref: UMLS:C0016129 xref: UMLS:C0205419 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705236 is_a: HP:0004097 ! Deviated fingers 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 contractures of the 4th finger namespace: medical_genetics 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:curators] synonym: "Camptodactyly of the 4th finger" EXACT [] synonym: "Camptodactyly of the ring finger" EXACT [] xref: UMLS:C0009918 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0221369 xref: UMLS:C0230398 xref: UMLS:C0685409 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1521759 is_a: HP:0004188 ! Abnormality of the 4th finger is_a: HP:0100490 ! Camptodactyly (hands) 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 namespace: medical_genetics def: "Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue." [HPO:curators] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C0932510 xref: UMLS:C1281584 xref: UMLS:C2117118 is_a: HP:0009274 ! Joint contractures of the 4th finger is_a: HP:0009697 ! Contractures 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 namespace: medical_genetics def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue." [HPO:curators] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C0932508 xref: UMLS:C1281584 xref: UMLS:C2117118 is_a: HP:0009274 ! Joint contractures of the 4th finger is_a: HP:0009698 ! Contractures of the proximal interphalangeal joints of the fingers created_by: doelkens creation_date: 2009-01-07T04:10:39Z [Term] id: HP:0009277 name: Contracture of the metacarpophalangeal joint of the 4th finger namespace: medical_genetics def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue." [HPO:curators] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0025525 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1269602 xref: UMLS:C1281584 xref: UMLS:C2117118 is_a: HP:0009274 ! Joint contractures 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 namespace: medical_genetics def: "Displacement of the 4th finger towards the ulnar side." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0449752 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0009465 ! Ulnar deviation of fingers created_by: doelkens creation_date: 2009-01-07T04:24:53Z [Term] id: HP:0009279 name: Radial deviation of the 4th finger namespace: medical_genetics def: "Displacement of the 4th finger towards the radial side." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0449751 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0009466 ! Radial deviation of fingers created_by: doelkens creation_date: 2009-01-07T04:24:53Z [Term] id: HP:0009280 name: Hypoplastic/small 4th finger namespace: medical_genetics alt_id: HP:0004190 def: "Hypoplastic/small 4th (ring) finger." [HPO:curators] synonym: "Short ring finger" EXACT [] xref: UMLS:C0205438 xref: UMLS:C0230398 xref: UMLS:C0239594 xref: UMLS:C0521164 xref: UMLS:C0543481 xref: UMLS:C0575827 xref: UMLS:C1260969 xref: UMLS:C1521759 xref: UMLS:C1705184 xref: UMLS:C1806781 xref: UMLS:C1882953 xref: UMLS:C1882954 xref: UMLS:C2350002 is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger is_a: HP:0009381 ! Hypoplastic/small fingers created_by: doelkens creation_date: 2009-01-07T04:28:08Z [Term] id: HP:0009281 name: Aplasia of the 4th finger namespace: medical_genetics def: "Absent 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics alt_id: HP:0004204 synonym: "Abnormality of the middle phalanx of the ring finger" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0230398 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1521759 xref: UMLS:C1704258 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 namespace: medical_genetics alt_id: HP:0004199 synonym: "Abnormality of the proximal phalanx of the ring finger" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0230398 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1521759 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Curved appearance of the phalanges of the 4th (ring) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Curved appearance of the distal phalanx of the 4th (ring) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205438 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Curved appearance of the middle phalanx of the 4th (ring) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205438 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205438 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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: Hypoplastic/small distal phalanx of the 4th finger namespace: medical_genetics def: "Hypoplastic/small distal phalanx of the 4th (ring) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C0700321 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009280 ! Hypoplastic/small 4th finger is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger is_a: HP:0009882 ! Hypoplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T03:59:28Z [Term] id: HP:0009291 name: Aplasia of the distal phalanx of the 4th finger namespace: medical_genetics def: "Absence of the distal phalanx of the ring (4th) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Increased width of the distal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1850630 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 phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009293 name: Broad middle phalanx of the 4th finger namespace: medical_genetics def: "Increased width of the middle phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0332464 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009294 name: Aplasia of the middle phalanx of the 4th finger namespace: medical_genetics def: "Absence of the middle phalanx of the ring (4th) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:11:35Z [Term] id: HP:0009295 name: Hypoplastic/small middle phalanx of the 4th finger namespace: medical_genetics alt_id: HP:0004205 alt_id: HP:0004206 def: "Hypoplastic/small middle phalanx of the 4th (ring) finger." [HPO:curators] synonym: "Hypoplastic/small middle phalanx of ring finger" EXACT [] synonym: "Short middle phalanx of ring finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0230398 xref: UMLS:C0543481 xref: UMLS:C0576463 xref: UMLS:C0700321 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1521759 xref: UMLS:C1846950 is_a: HP:0009280 ! Hypoplastic/small 4th finger is_a: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger is_a: HP:0010240 ! Hypoplasia of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:11:35Z [Term] id: HP:0009296 name: Bullet-shaped middle phalanx of the 4th finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0243067 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1518633 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 namespace: medical_genetics def: "Absence of the proximal phalanx of the ring (4th) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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: Hypoplastic/small proximal phalanx of the 4th finger namespace: medical_genetics def: "Hypoplastic/small proximal phalanx of the 4th (ring) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C0700321 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009280 ! Hypoplastic/small 4th finger is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger is_a: HP:0010241 ! Hypoplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:29:38Z [Term] id: HP:0009302 name: Bullet-shaped distal phalanx of the 4th finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0243067 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1518633 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 namespace: medical_genetics def: "Patchy increase in bone density of the distal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205438 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of the phalanges of the 4th finger is_a: HP:0009840 ! Patchy sclerosis of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009305 name: Symphalangism affecting the distal phalanx of the 4th finger namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205108 xref: UMLS:C0205438 xref: UMLS:C0392760 xref: UMLS:C0576463 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 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 affecting the middle phalanx of the 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1968591 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 namespace: medical_genetics def: "Patchy increase in bone density of the middle phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205438 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of the phalanges of the 4th finger is_a: HP:0009848 ! Patchy sclerosis of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009308 name: Symphalangism affecting the middle phalanx of the 4th finger namespace: medical_genetics def: "Fusion of the middle phalanx of the 4th finger with another bone." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205438 xref: UMLS:C0392760 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 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 affecting the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009309 name: Triangular shaped middle phalanx of the 4th finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205438 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Increased width of the proximal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0332464 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0243067 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1518633 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 namespace: medical_genetics def: "Patchy increase in bone density of the proximal phalanx of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205438 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of the phalanges of the 4th finger is_a: HP:0009856 ! Patchy sclerosis of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009314 name: Symphalangism affecting the proximal phalanx of the 4th finger namespace: medical_genetics def: "Fusion of the proximal phalanx of the 4th finger with another bone." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205438 xref: UMLS:C0392760 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205438 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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 [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0223828 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 is_a: HP:0004150 ! Abnormality of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:00:24Z [Term] id: HP:0009317 name: Deviation of the 3rd finger namespace: medical_genetics alt_id: HP:0004152 def: "Displacement of the 3rd finger from its normal position." [HPO:curators] synonym: "Deviated middle finger" EXACT [] xref: UMLS:C0012727 xref: UMLS:C0016129 xref: UMLS:C0205419 xref: UMLS:C0205437 xref: UMLS:C0230393 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1305276 xref: UMLS:C1705236 is_a: HP:0004097 ! Deviated fingers 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 namespace: medical_genetics def: "A small/hypoplastic or absent/aplastic 3rd (middle) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0851278 xref: UMLS:C1281584 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 contractures of the 3rd finger namespace: medical_genetics 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:curators] synonym: "Camptodactyly of middle finger" EXACT [] xref: UMLS:C0009918 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0221369 xref: UMLS:C0230393 xref: UMLS:C0685409 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1305276 is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0100490 ! Camptodactyly (hands) created_by: doelkens creation_date: 2009-01-12T11:05:43Z [Term] id: HP:0009320 name: Abnormality of the epiphyses of the 3rd finger namespace: medical_genetics def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0332197 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205437 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205437 xref: UMLS:C0332472 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0230393 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1305276 xref: UMLS:C1841685 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205437 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705241 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0332197 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205437 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205437 xref: UMLS:C0332472 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 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 namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205437 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705241 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 namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0332197 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205437 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0205107 xref: UMLS:C0205437 xref: UMLS:C0223828 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 xref: UMLS:C1849230 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 namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205437 xref: UMLS:C0332472 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 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 namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205437 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705241 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 namespace: medical_genetics alt_id: HP:0004179 synonym: "Abnormality of terminal phalanx of middle-finger" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0230393 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1305276 xref: UMLS:C1704258 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 namespace: medical_genetics alt_id: HP:0004167 synonym: "Abnormality of proximal middle-finger phalanx" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205107 xref: UMLS:C0205437 xref: UMLS:C0223828 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0221357 xref: UMLS:C0332307 xref: UMLS:C1547052 xref: UMLS:C1552651 xref: UMLS:C1849011 is_a: HP:0001156 ! Brachydactyly created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009371 name: Type A1 Brachydactyly namespace: medical_genetics xref: UMLS:C1862151 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 namespace: medical_genetics xref: UMLS:C1832702 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 namespace: medical_genetics xref: UMLS:C1862103 is_a: HP:0001156 ! Brachydactyly created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009374 name: Broad phalanges of the 5th finger namespace: medical_genetics def: "Increased width of the phalanges of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1842230 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 namespace: medical_genetics def: "Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics def: "Aplasia/Hypoplasia of the phalanges of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0851278 xref: UMLS:C1281584 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 the phalanges of the 5th finger namespace: medical_genetics def: "Patchy increase in bone density of the phalanges of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T12:00:02Z [Term] id: HP:0009378 name: Triangular shaped phalanges of the 5th finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Rhomboid or triangular shaped 5th (little) finger distal phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205121 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1260952 xref: UMLS:C1281584 xref: UMLS:C1968591 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 namespace: medical_genetics alt_id: HP:0004093 def: "Aplasia of one or more fingers." [HPO:curators] synonym: "Absent fingers" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0549188 xref: UMLS:C0728895 is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-13T01:05:32Z [Term] id: HP:0009381 name: Hypoplastic/small fingers namespace: medical_genetics alt_id: HP:0004098 alt_id: HP:0006015 synonym: "Hypoplastic digits" EXACT [] synonym: "Hypoplastic fingers" EXACT [] xref: UMLS:C0543481 xref: UMLS:C0575827 xref: UMLS:C1844548 is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-13T01:07:38Z [Term] id: HP:0009382 name: Absent epiphyses of the 5th finger namespace: medical_genetics def: "Absence of one or more epiphyses of the 5th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0332197 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics def: "Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics def: "Fragmented appearance of the epiphyses of the 5th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205439 xref: UMLS:C0332472 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphyses of the 5th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009389 name: Pseudoepiphyses of the 5th finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics def: "Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0010237 ! Stippling of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009392 name: Triangular epiphyses of the 5th finger namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205439 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705241 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 namespace: medical_genetics def: "Absence of one or more epiphyses of the 4th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0332197 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics def: "Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics def: "Fragmented appearance of the epiphyses of the 4th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205438 xref: UMLS:C0332472 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphyses of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009400 name: Pseudoepiphyses of the 4th finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics def: "Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0010237 ! Stippling of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009403 name: Triangular epiphyses of the 4th finger namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205438 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705241 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 namespace: medical_genetics def: "Increased width of the phalanges of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1842230 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 namespace: medical_genetics def: "Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 the phalanges of the 4th finger namespace: medical_genetics def: "Patchy increase in bone density of the phalanges of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009407 name: Triangular shaped phalanges of the 4th finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Absence of the epiphyses of the 3rd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0332197 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics def: "Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics def: "Fragmented appearance of the epiphyses of the 3rd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205437 xref: UMLS:C0332472 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphyses of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009417 name: Pseudoepiphyses of the 3rd finger namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0223828 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics def: "Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0010237 ! Stippling of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009420 name: Triangular epiphyses of the 3rd finger namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205437 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705241 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Increased width of the distal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1850630 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 phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009423 name: Bullet-shaped distal phalanx of the 3rd finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0024348 xref: UMLS:C0205437 xref: UMLS:C0230393 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1305276 xref: UMLS:C1518633 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 namespace: medical_genetics def: "Patchy increase in bone density of the distal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205437 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of the phalanges of the 3rd finger is_a: HP:0009840 ! Patchy sclerosis of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009426 name: Symphalangism affecting the distal phalanx of the 3rd finger namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205108 xref: UMLS:C0205437 xref: UMLS:C0392760 xref: UMLS:C0576463 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 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 affecting the middle phalanx of the 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1968591 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 namespace: medical_genetics def: "Curved appearance of the distal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205437 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Absence of the distal phalanx of the middle (3rd) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0230393 xref: UMLS:C0332464 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1305276 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 phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009431 name: Bullet-shaped middle phalanx of the 3rd finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics def: "Curved appearance of the middle phalanx of the 3rd (middle) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205437 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0243067 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1518633 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 namespace: medical_genetics def: "Patchy increase in bone density of the middle phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205437 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of the phalanges of the 3rd finger is_a: HP:0009848 ! Patchy sclerosis of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009435 name: Symphalangism affecting the middle phalanx of the 3rd finger namespace: medical_genetics def: "Fusion of the middle phalanx of the 3rd finger with another bone." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205437 xref: UMLS:C0392760 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 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 affecting the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009436 name: Triangular shaped middle phalanx of the 3rd finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205437 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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: Aplasia of the middle phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004173 def: "Absence of the middle phalanx of the middle (3rd) finger." [HPO:curators] synonym: "Absent middle phalanx of middle finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0230393 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1305276 xref: UMLS:C1862098 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 phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:45:02Z [Term] id: HP:0009439 name: Hypoplastic/small middle phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004177 def: "Hypoplastic/small middle phalanx of the 3rd (middle) finger." [HPO:curators] synonym: "Short middle phalanx of middle finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0230393 xref: UMLS:C0543481 xref: UMLS:C0576463 xref: UMLS:C0700321 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1305276 xref: UMLS:C1846950 is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger is_a: HP:0009461 ! Hypoplastic/small 3rd finger is_a: HP:0010240 ! Hypoplasia of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:45:02Z [Term] id: HP:0009440 name: Broad phalanges of the 3rd finger namespace: medical_genetics alt_id: HP:0004166 def: "Increased width of the phalanges of the 3rd finger." [HPO:curators] synonym: "Wide/broad middle finger phalanges" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0230393 xref: UMLS:C0332464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1305276 xref: UMLS:C1842230 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 namespace: medical_genetics def: "Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics def: "Curved appearance of the phalanges of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0024348 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0223828 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1518633 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 the phalanges of the 3rd finger namespace: medical_genetics alt_id: HP:0004160 def: "Patchy increase in bone density of the phalanges of the 3rd finger." [HPO:curators] synonym: "Patchy sclerosis of middle finger phalanges" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0223828 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009445 name: Symphalangism of the 3rd finger namespace: medical_genetics def: "Fusion of two or more bones of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0851278 xref: UMLS:C1281584 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: Aplasia of the phalanges of the 3rd finger namespace: medical_genetics alt_id: HP:0004156 synonym: "Absent middle finger phalanges" EXACT [] is_obsolete: true created_by: doelkens creation_date: 2009-01-14T04:11:21Z [Term] id: HP:0009449 name: Hypoplastic/small phalanges of the 3rd finger namespace: medical_genetics 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 created_by: doelkens creation_date: 2009-01-14T04:11:21Z [Term] id: HP:0009450 name: Broad proximal phalanx of the 3rd finger namespace: medical_genetics def: "Increased width of the proximal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0332464 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics def: "Curved appearance of the proximal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205437 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0243067 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1518633 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 namespace: medical_genetics def: "Patchy increase in bone density of the proximal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205437 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of the phalanges of the 3rd finger is_a: HP:0009856 ! Patchy sclerosis of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009455 name: Symphalangism affecting the proximal phalanx of the 3rd finger namespace: medical_genetics def: "Fusion of the proximal phalanx of the 3rd finger with another bone." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205437 xref: UMLS:C0392760 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205437 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Absence of the proximal phalanx of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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: Hypoplastic/small proximal phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004169 alt_id: HP:0004170 def: "Hypoplastic/small proximal phalanx of the 3rd (middle) finger." [HPO:curators] synonym: "Short proximal middle-finger phalanx" EXACT [] synonym: "Small proximal middle-finger phalanx" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205107 xref: UMLS:C0205437 xref: UMLS:C0223828 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C0700321 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger is_a: HP:0009461 ! Hypoplastic/small 3rd finger is_a: HP:0010241 ! Hypoplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:35:28Z [Term] id: HP:0009460 name: Aplasia of the 3rd finger namespace: medical_genetics def: "Absent 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0851278 xref: UMLS:C1281584 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: Hypoplastic/small 3rd finger namespace: medical_genetics alt_id: HP:0004154 def: "Hypoplastic/small 3rd (middle) finger." [HPO:curators] synonym: "Short middle finger" EXACT [] xref: UMLS:C0205437 xref: UMLS:C0230393 xref: UMLS:C0239594 xref: UMLS:C0444598 xref: UMLS:C0543481 xref: UMLS:C0575827 xref: UMLS:C1305276 xref: UMLS:C1552826 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger is_a: HP:0009381 ! Hypoplastic/small fingers created_by: doelkens creation_date: 2009-01-14T04:57:43Z [Term] id: HP:0009462 name: Radial deviation of the 3rd finger namespace: medical_genetics def: "Displacement of the 3rd finger towards the radial side." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0449751 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009317 ! Deviation of the 3rd finger is_a: HP:0009466 ! Radial deviation of fingers created_by: doelkens creation_date: 2009-01-15T09:35:10Z [Term] id: HP:0009463 name: Ulnar deviation of the 3rd finger namespace: medical_genetics alt_id: HP:0005865 def: "Displacement of the 3rd finger towards the ulnar side." [HPO:curators] synonym: "Ulnar deviation of middle fingers" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0230393 xref: UMLS:C0449752 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1305276 is_a: HP:0009317 ! Deviation of the 3rd finger is_a: HP:0009465 ! Ulnar deviation of fingers created_by: doelkens creation_date: 2009-01-15T09:35:47Z [Term] id: HP:0009464 name: Ulnar deviation of the 2nd finger namespace: medical_genetics alt_id: HP:0004102 def: "Displacement of the 2nd (index) finger towards the ulnar side." [HPO:curators] synonym: "Medially deviated index finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0449752 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1862141 is_a: HP:0009465 ! Ulnar deviation of fingers 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 fingers namespace: medical_genetics alt_id: HP:0001200 alt_id: HP:0004096 synonym: "Medially deviated fingers" EXACT [] xref: UMLS:C0012727 xref: UMLS:C0016129 xref: UMLS:C0230393 xref: UMLS:C0449752 xref: UMLS:C0549188 xref: UMLS:C1305276 is_a: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand is_a: HP:0004097 ! Deviated fingers created_by: doelkens creation_date: 2009-01-15T09:39:43Z [Term] id: HP:0009466 name: Radial deviation of fingers namespace: medical_genetics alt_id: HP:0001157 alt_id: HP:0001213 alt_id: HP:0001503 synonym: "Clinodactyly of fingers" EXACT [] synonym: "Clinodactyly of hands" EXACT [] synonym: "Clinodactyly of isolated digits" EXACT [] synonym: "Radially deviated fingers" EXACT [] synonym: "Radially deviated phalanges" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0205409 xref: UMLS:C0265610 xref: UMLS:C0449751 xref: UMLS:C0549188 xref: UMLS:C0582802 xref: UMLS:C1836189 xref: UMLS:C1847407 is_a: HP:0004097 ! Deviated fingers 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 namespace: medical_genetics 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:C0016129 xref: UMLS:C0205436 xref: UMLS:C0449751 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1844709 xref: UMLS:C2168952 is_a: HP:0009466 ! Radial deviation of fingers 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 namespace: medical_genetics alt_id: HP:0004101 def: "Displacement of the 2nd finger from its normal position." [HPO:curators] synonym: "Deviated index finger" EXACT [] xref: UMLS:C0012727 xref: UMLS:C0016129 xref: UMLS:C0205419 xref: UMLS:C0205436 xref: UMLS:C0230388 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705236 is_a: HP:0004097 ! Deviated fingers 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 namespace: medical_genetics def: "Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:curators] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C0932510 xref: UMLS:C1281584 xref: UMLS:C2117118 is_a: HP:0009319 ! Joint contractures of the 3rd finger is_a: HP:0009697 ! Contractures 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 namespace: medical_genetics def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:curators] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0025525 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C1269602 xref: UMLS:C1281584 xref: UMLS:C2117118 is_a: HP:0009319 ! Joint contractures 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 namespace: medical_genetics 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] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0851278 xref: UMLS:C0932508 xref: UMLS:C1281584 xref: UMLS:C2117118 is_a: HP:0009319 ! Joint contractures of the 3rd finger is_a: HP:0009698 ! Contractures of the proximal interphalangeal joints of the fingers created_by: doelkens creation_date: 2009-01-15T09:50:20Z [Term] id: HP:0009473 name: Joint contractures involving the joints of the hand namespace: medical_genetics alt_id: HP:0001160 alt_id: HP:0001237 alt_id: HP:0004094 alt_id: HP:0006096 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] synonym: "Contractures involving the hands" EXACT [] synonym: "Contractures of the hands" EXACT [] xref: UMLS:C0009917 xref: UMLS:C0009918 xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0022417 xref: UMLS:C0221369 xref: UMLS:C0333068 xref: UMLS:C0392905 xref: UMLS:C0549188 xref: UMLS:C0582802 xref: UMLS:C0685409 xref: UMLS:C1281583 xref: UMLS:C1314939 xref: UMLS:C1411006 xref: UMLS:C1552914 xref: UMLS:C1837240 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001371 ! Contractures is_a: HP:0009810 ! Abnormality of the joints of the upper limbs 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: Symphalangism of the middle and proximal phalanges of the 4th finger namespace: medical_genetics alt_id: HP:0009476 def: "Fusion of the proximal and middle phalanges of the 4th finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205438 xref: UMLS:C0444598 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1552826 is_a: HP:0006152 ! Proximal symphalangism (hands) is_a: HP:0009308 ! Symphalangism affecting the middle phalanx of the 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 namespace: medical_genetics def: "Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205438 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0005880 ! Metacarpophalangeal synostoses is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger is_a: HP:0009707 ! Synostosis involving the 4th metacarpal is_a: HP:0100325 ! Metacarpophalangeal Synostosis created_by: doelkens creation_date: 2009-01-15T10:24:03Z [Term] id: HP:0009482 name: Symphalangism of the middle and proximal phalanges of the 3rd finger namespace: medical_genetics alt_id: HP:0009481 def: "Fusion of the proximal and middle phalanges of the 3rd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205437 xref: UMLS:C0444598 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1552826 is_a: HP:0006152 ! Proximal symphalangism (hands) is_a: HP:0009435 ! Symphalangism affecting the middle phalanx of the 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 namespace: medical_genetics def: "Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205437 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0005880 ! Metacarpophalangeal synostoses is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger is_a: HP:0009706 ! Synostosis involving the 3rd metacarpal is_a: HP:0100325 ! Metacarpophalangeal Synostosis 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 namespace: medical_genetics def: "Displacement of the hand or of fingers of the hand from their normal position." [HPO:curators] xref: UMLS:C0012727 xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0205419 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1705236 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0449751 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics 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:curators] synonym: "Radial deviation of hands" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0449751 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics def: "A deviation of the orientation of the hand in the direction of the ulna (i.e., towards the little finger)." [HPO:curators] xref: UMLS:C0018563 xref: UMLS:C0449752 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics def: "Absence of the epiphyses of the 2nd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0332197 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205436 xref: UMLS:C0230388 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics def: "Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics def: "Fragmented appearance of the epiphyses of the 2nd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205436 xref: UMLS:C0332472 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphyses of the 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009495 name: Pseudoepiphyses of the 2nd finger namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0158733 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0230388 xref: UMLS:C0851278 xref: UMLS:C0918012 xref: UMLS:C1281584 xref: UMLS:C1552854 xref: UMLS:C1637833 xref: UMLS:C1841685 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 namespace: medical_genetics def: "Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0010237 ! Stippling of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009498 name: Triangular epiphyses of the 2nd finger namespace: medical_genetics def: "A triangular appearance of the epiphyses of the 2nd finger of the hand." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205436 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics alt_id: HP:0004146 synonym: "Epiphyseal abnormality of terminal index finger phalanx" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205088 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 xref: UMLS:C1705314 xref: UMLS:C1705315 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 phalanges of the hand 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 namespace: medical_genetics alt_id: HP:0004135 synonym: "Epiphyseal abnormality of middle phalanx of the 2nd finger" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics alt_id: HP:0004127 synonym: "Epiphyseal abnormality of the proximal phalanx of the 2nd finger" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0029433 xref: UMLS:C0205088 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0332197 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705314 xref: UMLS:C1705315 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205436 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205436 xref: UMLS:C0332472 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0205088 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705314 xref: UMLS:C1705315 xref: UMLS:C1856911 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 namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205436 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics alt_id: HP:0004136 synonym: "Absent epiphyses of middle phalanx of index finger" EXACT [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0230388 xref: UMLS:C0332197 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics alt_id: HP:0004137 synonym: "Cone-shaped epiphyses of middle phalanx of index finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0230388 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205436 xref: UMLS:C0332472 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0332197 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics alt_id: HP:0004120 synonym: "Bracket epiphyses of proximal index finger phalanx" EXACT [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0179407 xref: UMLS:C0205107 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics alt_id: HP:0004128 synonym: "Cone-shaped epiphysis of proximal index finger phalanx" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205107 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1865037 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 namespace: medical_genetics alt_id: HP:0004129 synonym: "Large epiphysis of proximal index finger phalanx" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205107 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1848495 xref: UMLS:C1849230 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0185061 xref: UMLS:C0205436 xref: UMLS:C0332472 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1881708 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846449 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1856911 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1841685 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1846803 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1979978 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 namespace: medical_genetics alt_id: HP:0004130 synonym: "Triangular epiphysis of proximal index finger phalanx" EXACT [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0205107 xref: UMLS:C0205119 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics alt_id: HP:0004106 def: "Absent 2nd (index) finger." [HPO:curators] synonym: "Absent index finger phalanges" EXACT [] synonym: "Aplasia of the index finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0230388 xref: UMLS:C0243065 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0851278 xref: UMLS:C1281584 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: Hypoplastic/small 2nd finger namespace: medical_genetics alt_id: HP:0004104 alt_id: HP:0004113 alt_id: HP:0004115 def: "Hypoplastic/small 2nd (index) finger." [HPO:curators] 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:C0205436 xref: UMLS:C0223792 xref: UMLS:C0230388 xref: UMLS:C0543481 xref: UMLS:C0575827 xref: UMLS:C0700321 xref: UMLS:C0918012 xref: UMLS:C1552854 xref: UMLS:C1637833 xref: UMLS:C1848845 xref: UMLS:C1862142 is_a: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger is_a: HP:0009381 ! Hypoplastic/small fingers created_by: doelkens creation_date: 2009-01-19T04:18:22Z [Term] id: HP:0009537 name: Joint contractures of the 2nd finger namespace: medical_genetics 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: "Camptodactyly of index finger" EXACT [] xref: UMLS:C0009918 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0221369 xref: UMLS:C0230388 xref: UMLS:C0685409 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0004100 ! Abnormality of the 2nd finger is_a: HP:0100490 ! Camptodactyly (hands) 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 namespace: medical_genetics def: "Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:curators] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0851278 xref: UMLS:C0932510 xref: UMLS:C1281584 xref: UMLS:C2117118 is_a: HP:0009537 ! Joint contractures of the 2nd finger is_a: HP:0009697 ! Contractures 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 namespace: medical_genetics def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:curators] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0025525 xref: UMLS:C0205436 xref: UMLS:C0851278 xref: UMLS:C1269602 xref: UMLS:C1281584 xref: UMLS:C2117118 is_a: HP:0009537 ! Joint contractures 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 namespace: medical_genetics def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:curators] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0851278 xref: UMLS:C0932508 xref: UMLS:C1281584 xref: UMLS:C2117118 is_a: HP:0009537 ! Joint contractures of the 2nd finger is_a: HP:0009698 ! Contractures of the proximal interphalangeal joints of the fingers created_by: doelkens creation_date: 2009-01-21T10:11:49Z [Term] id: HP:0009541 name: Abnormality of the phalanges of the 2nd finger namespace: medical_genetics alt_id: HP:0004105 def: "Abnormality of the phalanges of the 2nd (index) finger." [HPO:curators] synonym: "Abnormality of 2nd finger phalanges" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 is_a: HP:0004100 ! Abnormality of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:15:07Z [Term] id: HP:0009542 name: Abnormality of the distal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004140 synonym: "Abnormality of terminal index finger phalanx" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205088 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 xref: UMLS:C1705314 xref: UMLS:C1705315 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 namespace: medical_genetics alt_id: HP:0004131 synonym: "Abnormality of middle 2nd finger phalanx" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0223828 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics alt_id: HP:0004119 synonym: "Abnormality of the proximal 2nd finger phalanx" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1704258 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 namespace: medical_genetics alt_id: HP:0004116 synonym: "Symphalangism of index finger phalanges" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0223818 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics alt_id: HP:0004118 synonym: "Wide/broad index finger phalanges" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0230388 xref: UMLS:C0332464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1842230 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics alt_id: HP:0004114 synonym: "Lytic defect in index finger phalanges" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0024348 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0223818 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1457869 xref: UMLS:C1518633 xref: UMLS:C1861101 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 the phalanges of the 2nd finger namespace: medical_genetics def: "Patchy increase in bone density of the phalanges of the 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009552 name: Aplasia/Hypoplasia of the phalanges of the 2nd finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "The hairline refers to the outline of scalp hair. 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:curators] xref: UMLS:C0000768 xref: UMLS:C1704258 is_a: HP:0010720 ! Abnormal hair growth pattern is_a: HP:0100037 ! Abnormality of the scalp hair created_by: peter creation_date: 2009-01-21T05:19:14Z [Term] id: HP:0009554 name: Projection of scalp hair onto lateral cheek namespace: medical_genetics def: "An tongue-like extension of hair towards the cheeks." [HPO:curators] xref: UMLS:C0007966 xref: UMLS:C0016538 xref: UMLS:C0033363 xref: UMLS:C0205093 xref: UMLS:C0221979 xref: UMLS:C0348018 xref: UMLS:C1279153 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 namespace: medical_genetics def: "Underdevelopment of the pharynx." [HPO:curators] xref: UMLS:C0031354 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1278903 is_a: HP:0000600 ! Abnormality of the pharynx created_by: peter creation_date: 2009-01-21T05:24:16Z [Term] id: HP:0009556 name: Aplasia of the tibia namespace: medical_genetics def: "Absence of the tibia." [HPO:curators] xref: UMLS:C0040184 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1279118 is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics def: "Increased width of the distal phalanx of the 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1850630 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 phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009559 name: Bullet-shaped distal phalanx of the 2nd finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics def: "Curved appearance of the distal phalanx of the 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205436 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0205088 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0230388 xref: UMLS:C0243067 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C0917990 xref: UMLS:C1281584 xref: UMLS:C1518633 xref: UMLS:C1705314 xref: UMLS:C1705315 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 namespace: medical_genetics def: "Patchy increase in bone density of the distal phalanx of the 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205436 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of the phalanges of the 2nd finger is_a: HP:0009840 ! Patchy sclerosis of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009563 name: Symphalangism affecting the distal phalanx of the 2nd finger namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205108 xref: UMLS:C0205436 xref: UMLS:C0392760 xref: UMLS:C0576463 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 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 affecting the middle phalanx of the 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1968591 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 namespace: medical_genetics alt_id: HP:0004141 synonym: "Absent terminal index finger phalanx" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205088 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0243065 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0576464 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705314 xref: UMLS:C1705315 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: Hypoplastic/small distal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004145 synonym: "Hypoplastic terminal index finger phalanx" EXACT [] synonym: "Short terminal index finger phalanx" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205088 xref: UMLS:C0205436 xref: UMLS:C0222682 xref: UMLS:C0223792 xref: UMLS:C0223818 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C0700321 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705314 xref: UMLS:C1705315 xref: UMLS:C1806781 xref: UMLS:C1862142 xref: UMLS:C2350002 is_a: HP:0009536 ! Hypoplastic/small 2nd finger is_a: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger is_a: HP:0009882 ! Hypoplasia of the distal phalanges of the hand 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 namespace: medical_genetics alt_id: HP:0006221 synonym: "Absent/hypoplastic middle phalanx of 2nd finger" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1839317 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 namespace: medical_genetics def: "Increased width of the middle phalanx of the 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0332464 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009570 name: Bullet-shaped middle phalanx of the 2nd finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics def: "Curved appearance of the middle phalanx of the 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0024348 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0223828 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C0444598 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C0918012 xref: UMLS:C1281584 xref: UMLS:C1518633 xref: UMLS:C1552826 xref: UMLS:C1552854 xref: UMLS:C1637833 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 namespace: medical_genetics def: "Patchy increase in bone density of the middle phalanx of the 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of the phalanges of the 2nd finger is_a: HP:0009848 ! Patchy sclerosis of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009574 name: Symphalangism affecting the middle phalanx of the 2nd finger namespace: medical_genetics def: "Fusion of the middle phalanx of the 2nd finger with another bone." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205436 xref: UMLS:C0392760 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 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 affecting the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009575 name: Triangular shaped middle phalanx of the 2nd finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205119 xref: UMLS:C0205436 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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: Aplasia of the middle phalanx of the 2nd finger namespace: medical_genetics def: "Absence of the middle phalanx of the index (2nd) finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576463 xref: UMLS:C0851278 xref: UMLS:C1281584 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 phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:15:55Z [Term] id: HP:0009577 name: Hypoplastic/small middle phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004133 def: "Hypoplastic/small middle phalanx of the 2nd (index) finger." [HPO:curators] synonym: "Hypoplastic middle index finger phalanx" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0223828 xref: UMLS:C0444598 xref: UMLS:C0543481 xref: UMLS:C0576463 xref: UMLS:C0700321 xref: UMLS:C0851278 xref: UMLS:C0918012 xref: UMLS:C1281584 xref: UMLS:C1552826 xref: UMLS:C1552854 xref: UMLS:C1637833 is_a: HP:0009536 ! Hypoplastic/small 2nd finger is_a: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger is_a: HP:0010240 ! Hypoplasia of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:15:55Z [Term] id: HP:0009579 name: Symphalangism of the middle and proximal phalanges of the 2nd finger namespace: medical_genetics def: "Fusion of the proximal and middle phalanges of the 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205436 xref: UMLS:C0444598 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1552826 is_a: HP:0006152 ! Proximal symphalangism (hands) is_a: HP:0009574 ! Symphalangism affecting the middle phalanx of the 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0205107 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0332464 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1706207 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 namespace: medical_genetics def: "Curved appearance of the proximal phalanx of the 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205134 xref: UMLS:C0205436 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0024348 xref: UMLS:C0205107 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1518633 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 namespace: medical_genetics def: "Patchy increase in bone density of the proximal phalanx of the 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205436 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of the phalanges of the 2nd finger is_a: HP:0009856 ! Patchy sclerosis of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009586 name: Symphalangism affecting the proximal phalanx of the 2nd finger namespace: medical_genetics def: "Fusion of the proximal phalanx of the 2nd finger with another bone." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205436 xref: UMLS:C0392760 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0205107 xref: UMLS:C0205119 xref: UMLS:C0205436 xref: UMLS:C0223818 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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 namespace: medical_genetics 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:curators] synonym: "Acoustic Neuroma" EXACT [] synonym: "Neurilemmoma" EXACT [] synonym: "Neurinoma" EXACT [] synonym: "Neurolemmoma" EXACT [] synonym: "Schwann cell tumor" EXACT [] xref: UMLS:C0027651 xref: UMLS:C0027809 xref: UMLS:C0027859 xref: UMLS:C0036387 xref: UMLS:C0854906 xref: UMLS:C1578706 is_a: HP:0009591 ! Abnormality of the eighth cranial nerve is_a: HP:0100008 ! Abnormality of the Schwann Cells created_by: peter creation_date: 2009-01-28T10:37:32Z [Term] id: HP:0009589 name: Bilateral vestibular Schwannoma namespace: medical_genetics def: "A bilateral vestibular Schwannoma (acoustic neurinoma)." [HPO:curators] synonym: "Bilateral acoustic neuromas" EXACT [] xref: UMLS:C0027859 xref: UMLS:C0238767 xref: UMLS:C1136042 is_a: HP:0009588 ! Vestibular Schwannoma created_by: peter creation_date: 2009-01-28T10:39:14Z [Term] id: HP:0009590 name: Unilateral vestibular Schwannoma namespace: medical_genetics def: "A unilateral vestibular Schwannoma (acoustic neurinoma)." [HPO:curators] xref: UMLS:C1863653 is_a: HP:0009588 ! Vestibular Schwannoma created_by: peter creation_date: 2009-01-28T10:40:23Z [Term] id: HP:0009591 name: Abnormality of the eighth cranial nerve namespace: medical_genetics def: "Abnormality of the vestibulocochlear nerve, the VIIIth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain." [HPO:curators] synonym: "Abnormality of the VIIIth cranial nerve" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0001162 xref: UMLS:C1704258 is_a: HP:0001291 ! Abnormality of the cranial nerves created_by: peter creation_date: 2009-01-28T10:42:57Z [Term] id: HP:0009592 name: Astrocytoma namespace: medical_genetics 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` (HP:0009733)." [HPO:curators] xref: UMLS:C0004114 is_a: HP:0009733 ! Glioma created_by: peter creation_date: 2009-01-28T10:51:01Z [Term] id: HP:0009593 name: Peripheral Schwannoma namespace: medical_genetics def: "The presence of a `peripheral` (PATO:0002107) `schwannoma` (MPATH:438)." [HPO:probinson] comment: A Peripheral Schwannoma (also known as neurilemoma) is a benign, usually encapsulated neoplasm derived from Schwann cells. xref: UMLS:C0027809 xref: UMLS:C0205100 is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0100007 ! Neoplasia of the peripheral nervous system is_a: HP:0100008 ! Abnormality of the Schwann Cells created_by: peter creation_date: 2009-01-28T10:55:58Z [Term] id: HP:0009594 name: Retinal hamartoma namespace: medical_genetics def: "A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina." [HPO:curators] xref: UMLS:C1863411 is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0010568 ! Hamartomas of the eye created_by: peter creation_date: 2009-01-28T10:58:47Z [Term] id: HP:0009595 name: Occasional neurofibromas namespace: medical_genetics def: "Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1." [HPO:curators] xref: UMLS:C1863413 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 namespace: medical_genetics def: "Absence of the proximal phalanx of the 2nd finger." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 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: Hypoplastic/small proximal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004124 def: "Hypoplastic/small proximal phalanx of the 2nd finger." [HPO:curators] synonym: "Short proximal index finger phalanx" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0205107 xref: UMLS:C0205436 xref: UMLS:C0222682 xref: UMLS:C0223792 xref: UMLS:C0223818 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C0700321 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1806781 xref: UMLS:C1862142 xref: UMLS:C2350002 is_a: HP:0009536 ! Hypoplastic/small 2nd finger is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger is_a: HP:0010241 ! Hypoplasia of the proximal phalanges of the hand 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 namespace: medical_genetics def: "Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0039075 xref: UMLS:C0205436 xref: UMLS:C0576462 xref: UMLS:C0851278 xref: UMLS:C1281584 is_a: HP:0005880 ! Metacarpophalangeal synostoses is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger is_a: HP:0009705 ! Synostosis involving the 2nd metacarpal is_a: HP:0100325 ! Metacarpophalangeal Synostosis created_by: doelkens creation_date: 2009-01-29T10:21:45Z [Term] id: HP:0009599 name: Abnormality of the epiphyses of the thumb namespace: medical_genetics 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. 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 thumb epiphyses" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C1269613 xref: UMLS:C1704258 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: Joint contractures of the thumb namespace: medical_genetics 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:curators] synonym: "Contracture of thumb" EXACT [] synonym: "Flexion deformities of thumbs" EXACT [] synonym: "Joint contractures of the thumb" EXACT [] xref: UMLS:C0009917 xref: UMLS:C0009918 xref: UMLS:C0040067 xref: UMLS:C0333068 xref: UMLS:C1269613 xref: UMLS:C2117118 is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0100490 ! Camptodactyly (hands) created_by: doelkens creation_date: 2009-01-29T01:06:31Z [Term] id: HP:0009601 name: Aplasia/Hypoplasia of the thumb namespace: medical_genetics alt_id: HP:0002950 alt_id: HP:0006225 def: "Hypoplastic/small or absent thumb." [HPO:curators] synonym: "Absent or hypoplastic thumbs" EXACT [] synonym: "Absent/hypoplastic thumb" EXACT [] synonym: "Absent/hypoplastic thumbs" EXACT [] synonym: "Aplasia/Hypoplasia of the thumb" 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 [] xref: UMLS:C0040067 xref: UMLS:C0241391 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0431890 xref: UMLS:C0543481 xref: UMLS:C1269613 is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-29T01:08:24Z [Term] id: HP:0009602 name: Abnormality of the phalanges of the thumb namespace: medical_genetics alt_id: HP:0004064 def: "Abnormality of the phalanges of the thumb." [HPO:curators] synonym: "Abnormality of the phalanges of the thumb" EXACT [] synonym: "Abnormality of thumb phalanges" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0040067 xref: UMLS:C0223792 xref: UMLS:C0560733 xref: UMLS:C1269613 xref: UMLS:C1704258 is_a: HP:0001172 ! Abnormality of the thumb created_by: doelkens creation_date: 2009-01-29T01:10:39Z [Term] id: HP:0009603 name: Deviation/Displacement of the thumb namespace: medical_genetics alt_id: HP:0004062 def: "Displacement of the thumb from its normal position." [HPO:curators] synonym: "Deviated thumb" EXACT [] xref: UMLS:C0012725 xref: UMLS:C0012727 xref: UMLS:C0040067 xref: UMLS:C0205419 xref: UMLS:C0456080 xref: UMLS:C1269613 xref: UMLS:C1705236 xref: UMLS:C2347509 is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0004097 ! Deviated fingers created_by: doelkens creation_date: 2009-01-29T01:49:57Z [Term] id: HP:0009605 name: Pre- and postaxial polydactyly namespace: medical_genetics xref: UMLS:C0220697 xref: UMLS:C0332152 xref: UMLS:C0740175 xref: UMLS:C2257086 is_a: HP:0010442 ! Polydactyly created_by: doelkens creation_date: 2009-01-29T02:18:19Z [Term] id: HP:0009606 name: duplicated distal phalanx of the thumb namespace: medical_genetics 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 distal phalanx of the thumb" EXACT [] synonym: "Duplicated terminal phalanx of thumb" EXACT [] synonym: "Duplication of distal thumb phalanx" EXACT [] synonym: "Duplication of terminal thumb phalanx" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0205088 xref: UMLS:C0205108 xref: UMLS:C0205173 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0560733 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1705314 xref: UMLS:C1705315 xref: UMLS:C1705764 xref: UMLS:C1705765 xref: UMLS:C1705960 is_a: HP:0009612 ! Partial/complete duplication of the distal phalanx of the thumb is_a: HP:0009943 ! Complete duplication of the phalanges of the thumb 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: duplicated proximal phalanx of the thumb namespace: medical_genetics 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:curators] synonym: "Duplication of proximal thumb phalanx" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0205107 xref: UMLS:C0332597 xref: UMLS:C0560733 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1705960 is_a: HP:0009613 ! Partial/complete duplication of the proximal phalanx of the thumb is_a: HP:0009943 ! Complete duplication of the phalanges of the thumb 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: Partial/complete duplication of the 1st metacarpal namespace: medical_genetics def: "Partail or complete duplication of the 1st metacarpal (depending on severity). 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." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C0205197 xref: UMLS:C0205435 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1269064 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009942 ! Partial/complete duplication of phalanges of the thumb is_a: HP:0010006 ! Partial/complete duplication of the proximal phalanges of the hand is_a: HP:0010009 ! Abnormality of the 1st metacarpal created_by: doelkens creation_date: 2009-01-29T03:33:31Z [Term] id: HP:0009611 name: bifid distal phalanx of the thumb namespace: medical_genetics alt_id: HP:0004086 alt_id: HP:0005703 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:curators] synonym: "Bifid distal phalanx of thumb" EXACT [] synonym: "Bifid terminal phalanges of thumbs" EXACT [] synonym: "Notched terminal thumb phalanx" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0205088 xref: UMLS:C0205316 xref: UMLS:C0443152 xref: UMLS:C0560733 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1705314 xref: UMLS:C1705315 xref: UMLS:C1849343 is_a: HP:0009612 ! Partial/complete duplication of the distal phalanx of the thumb is_a: HP:0009944 ! Partial duplication of the phalanges of the thumb 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: Partial/complete duplication of the distal phalanx of the thumb namespace: medical_genetics 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:curators] xref: UMLS:C0040067 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1269613 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009883 ! Partial/complete duplication of the distal phalanges of the hand is_a: HP:0009942 ! Partial/complete duplication of phalanges of the thumb created_by: doelkens creation_date: 2009-01-29T03:51:43Z [Term] id: HP:0009613 name: Partial/complete duplication of the proximal phalanx of the thumb namespace: medical_genetics 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:curators] xref: UMLS:C0040067 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1269613 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009942 ! Partial/complete duplication of phalanges of the thumb is_a: HP:0010008 ! Partial/complete duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T03:59:56Z [Term] id: HP:0009614 name: bifid proximal phalanx of the thumb namespace: medical_genetics 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:curators] xref: UMLS:C0040067 xref: UMLS:C0443152 xref: UMLS:C0576462 xref: UMLS:C1269613 is_a: HP:0009613 ! Partial/complete duplication of the proximal phalanx of the thumb is_a: HP:0009944 ! Partial duplication of the phalanges of the thumb 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: duplicated 1st metacarpal namespace: medical_genetics def: "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." [HPO:curators] synonym: "complete duplication of the first metacarpal" EXACT [] xref: UMLS:C0025526 xref: UMLS:C0205197 xref: UMLS:C0205435 xref: UMLS:C0223751 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0730131 xref: UMLS:C1269064 xref: UMLS:C1705960 is_a: HP:0009609 ! Partial/complete duplication of the 1st metacarpal is_a: HP:0009943 ! Complete duplication of the phalanges of the thumb is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T04:06:17Z [Term] id: HP:0009616 name: bifid 1st metacarpal namespace: medical_genetics def: "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." [HPO:curators] synonym: "partial duplication of the first metacarpal" EXACT [] xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C0223751 xref: UMLS:C0332597 xref: UMLS:C0443152 xref: UMLS:C0728938 xref: UMLS:C0730131 xref: UMLS:C1269064 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009609 ! Partial/complete duplication of the 1st metacarpal is_a: HP:0009944 ! Partial duplication of the phalanges of the thumb is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T04:06:17Z [Term] id: HP:0009617 name: Abnormality of the distal phalanx of the thumb namespace: medical_genetics alt_id: HP:0004081 synonym: "Abnormality of terminal thumb phalanx" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0040067 xref: UMLS:C0205088 xref: UMLS:C0560733 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1704258 xref: UMLS:C1705314 xref: UMLS:C1705315 is_a: HP:0009602 ! Abnormality of the phalanges of the thumb created_by: doelkens creation_date: 2009-01-29T04:13:47Z [Term] id: HP:0009618 name: Abnormality of the proximal phalanx of the thumb namespace: medical_genetics 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 [] xref: UMLS:C0000768 xref: UMLS:C0040067 xref: UMLS:C0205107 xref: UMLS:C0560733 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1704258 is_a: HP:0009602 ! Abnormality of the phalanges of the thumb created_by: doelkens creation_date: 2009-01-29T04:13:47Z [Term] id: HP:0009619 name: Accessory phalanx of the thumb namespace: medical_genetics def: "An accessory phalanx of the thumb." [HPO:curators] xref: UMLS:C0040067 xref: UMLS:C0222682 xref: UMLS:C0223792 xref: UMLS:C1269613 is_a: HP:0009602 ! Abnormality of the phalanges of the thumb created_by: doelkens creation_date: 2009-01-29T04:22:20Z [Term] id: HP:0009620 name: Radial deviation of the thumb namespace: medical_genetics alt_id: HP:0004063 synonym: "Radially deviated thumb" EXACT [] is_obsolete: true created_by: doelkens creation_date: 2009-01-29T04:35:09Z [Term] id: HP:0009621 name: Ulnar deviation of the thumb namespace: medical_genetics is_obsolete: true created_by: doelkens creation_date: 2009-01-29T04:35:51Z [Term] id: HP:0009622 name: Distally placed thumb namespace: medical_genetics alt_id: HP:0005755 synonym: "Distally placed thumb" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0205108 xref: UMLS:C0442504 xref: UMLS:C1269613 is_a: HP:0009603 ! Deviation/Displacement of the thumb created_by: doelkens creation_date: 2009-01-29T04:40:23Z [Term] id: HP:0009623 name: Proximally placed thumb namespace: medical_genetics alt_id: HP:0001170 def: "Proximally displaced thumb." [HPO:curators] synonym: "Proximally placed halluces" EXACT [] synonym: "Proximally placed thumb" EXACT [] synonym: "Proximally placed thumbs" EXACT [] xref: UMLS:C0018534 xref: UMLS:C0040067 xref: UMLS:C0205107 xref: UMLS:C0442504 xref: UMLS:C1269613 is_a: HP:0009603 ! Deviation/Displacement of the thumb created_by: doelkens creation_date: 2009-01-29T04:40:23Z [Term] id: HP:0009624 name: Contractures of the carpometacarpal joint of the thumb namespace: medical_genetics 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:curators] xref: UMLS:C0009917 xref: UMLS:C0040067 xref: UMLS:C0224620 xref: UMLS:C1269613 xref: UMLS:C1321524 is_a: HP:0009600 ! Joint contractures of the thumb created_by: doelkens creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009625 name: Contractures of the metacarpophalangeal joint of the thumb namespace: medical_genetics 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:curators] xref: UMLS:C0009917 xref: UMLS:C0025525 xref: UMLS:C0040067 xref: UMLS:C1269602 xref: UMLS:C1269613 is_a: HP:0009600 ! Joint contractures of the thumb created_by: doelkens creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009626 name: Contractures of the interphalangeal joint of the thumb namespace: medical_genetics 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:curators] synonym: "Interphalangeal extension contractures of thumbs" EXACT [] xref: UMLS:C0009917 xref: UMLS:C0040067 xref: UMLS:C0231448 xref: UMLS:C1269613 xref: UMLS:C1563055 xref: UMLS:C1880641 is_a: HP:0001220 ! Interphalangeal joint contractures (hands) is_a: HP:0009600 ! Joint contractures of the 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 namespace: medical_genetics 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] xref: UMLS:C0040067 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C1269613 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 namespace: medical_genetics 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] xref: UMLS:C0040067 xref: UMLS:C0332464 xref: UMLS:C0576462 xref: UMLS:C1269613 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009651 ! Broad phalanges of the thumb is_a: HP:0009844 ! Broad middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009631 name: Bullet-shaped proximal phalanx of the thumb namespace: medical_genetics 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. 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] xref: UMLS:C0040067 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1706207 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009652 ! Bullet-shaped phalanges of the thumb 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 namespace: medical_genetics def: "Curved appearance 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] xref: UMLS:C0040067 xref: UMLS:C0205134 xref: UMLS:C0576462 xref: UMLS:C1269613 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009653 ! Curved phalanges of the thumb is_a: HP:0009846 ! Curved middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009633 name: Osteolytic defects of the proximal phalanx of the thumb namespace: medical_genetics def: "Dissolution or degeneration of bone tissue 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] xref: UMLS:C0040067 xref: UMLS:C0243067 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1518633 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009654 ! Osteolytic defects of the phalanges of the thumb 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 namespace: medical_genetics def: "Patchy increase in bone density 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] xref: UMLS:C0036429 xref: UMLS:C0040067 xref: UMLS:C0205413 xref: UMLS:C0576462 xref: UMLS:C1269613 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009655 ! Patchy sclerosis of the phalanges of the thumb is_a: HP:0009848 ! Patchy sclerosis of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009635 name: Symphalangism affecting the proximal phalanx of the thumb namespace: medical_genetics def: "Fusion of the proximal phalanx of the thumb with another bone. 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] xref: UMLS:C0039075 xref: UMLS:C0040067 xref: UMLS:C0392760 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1314939 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009656 ! Symphalangism of the thumb is_a: HP:0009849 ! Symphalangism affecting the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009636 name: Triangular shaped proximal phalanx of the thumb namespace: medical_genetics alt_id: HP:0004080 def: "Triangular shaped 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. 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 thumb phalanx" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0205107 xref: UMLS:C0205119 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0560733 xref: UMLS:C0576462 xref: UMLS:C1269613 is_a: HP:0009618 ! Abnormality of the proximal phalanx of the thumb is_a: HP:0009657 ! Triangular shaped phalanges of the thumb 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: Aplasia of the proximal phalanx of the thumb namespace: medical_genetics 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:curators] synonym: "Absent ossification/absent proximal thumb phalanx" EXACT [] xref: UMLS:C0029433 xref: UMLS:C0040067 xref: UMLS:C0205107 xref: UMLS:C0222682 xref: UMLS:C0223792 xref: UMLS:C0241391 xref: UMLS:C0243065 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0560733 xref: UMLS:C0576462 xref: UMLS:C1269613 is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the thumb is_a: HP:0009659 ! Aplasia of the phalanges of the thumb is_a: HP:0010239 ! Aplasia of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:11:02Z [Term] id: HP:0009638 name: Hypoplastic/small proximal phalanx of the thumb namespace: medical_genetics alt_id: HP:0004079 def: "Hypoplastic/small 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] synonym: "Short proximal phalanges of thumb" EXACT [] synonym: "Short proximal thumb phalanx" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C0700321 xref: UMLS:C1269613 xref: UMLS:C1860606 is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the thumb is_a: HP:0009660 ! Hypoplastic/small phalanges of the thumb is_a: HP:0010240 ! Hypoplasia of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:11:02Z [Term] id: HP:0009640 name: Symphalangism of the proximal phalanx of the thumb with the 1st metatcarpal namespace: medical_genetics def: "Fusion of the proximal phalanx of the thumb with the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] xref: UMLS:C0039075 xref: UMLS:C0040067 xref: UMLS:C0205435 xref: UMLS:C0576462 xref: UMLS:C1269613 is_a: HP:0005880 ! Metacarpophalangeal synostoses is_a: HP:0006152 ! Proximal symphalangism (hands) is_a: HP:0009635 ! Symphalangism affecting the proximal phalanx of the thumb is_a: HP:0009703 ! Synostosis involving the 1st metacarpal is_a: HP:0100325 ! Metacarpophalangeal Synostosis created_by: doelkens creation_date: 2009-01-29T05:17:08Z [Term] id: HP:0009641 name: Aplasia/Hypoplasia of the distal phalanx of the thumb namespace: medical_genetics xref: UMLS:C0040067 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C1269613 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 namespace: medical_genetics alt_id: HP:0004088 alt_id: HP:0006198 def: "Increased width of the distal phalanx of the thumb." [HPO:curators] synonym: "Broad terminal thumb phalanx" EXACT [] synonym: "Wide distal phalanx of thumb" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0205088 xref: UMLS:C0222682 xref: UMLS:C0223792 xref: UMLS:C0332464 xref: UMLS:C0426891 xref: UMLS:C0560733 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1705314 xref: UMLS:C1705315 xref: UMLS:C1850630 xref: UMLS:C1857541 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009651 ! Broad phalanges of the thumb is_a: HP:0009836 ! Broad distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009643 name: Bullet-shaped distal phalanx of the thumb namespace: medical_genetics 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:curators] xref: UMLS:C0040067 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1706207 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009652 ! Bullet-shaped phalanges of the thumb 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 namespace: medical_genetics def: "Curved appearance of the distal phalanx of the thumb." [HPO:curators] xref: UMLS:C0040067 xref: UMLS:C0205134 xref: UMLS:C0576464 xref: UMLS:C1269613 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009653 ! Curved phalanges of the thumb 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 defects of the distal phalanx of the thumb namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the distal phalanx of the thumb." [HPO:curators] xref: UMLS:C0040067 xref: UMLS:C0243067 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1518633 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009654 ! Osteolytic defects of the phalanges of the thumb 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 namespace: medical_genetics def: "Patchy increase in bone density of the distal phalanx of the thumb." [HPO:curators] xref: UMLS:C0036429 xref: UMLS:C0040067 xref: UMLS:C0205413 xref: UMLS:C0576464 xref: UMLS:C1269613 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009655 ! Patchy sclerosis of the phalanges of the thumb is_a: HP:0009840 ! Patchy sclerosis of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009647 name: Symphalangism affecting the distal phalanx of the thumb namespace: medical_genetics alt_id: HP:0009639 def: "Fusion of the proximal and distal phalanges 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] synonym: "Symphalangism of the distal and proximal phalanges of the thumb" EXACT [] xref: UMLS:C0039075 xref: UMLS:C0040067 xref: UMLS:C0205108 xref: UMLS:C0392760 xref: UMLS:C0576462 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1314939 is_a: HP:0001204 ! Distal symphalangism (hands) is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009635 ! Symphalangism affecting the proximal phalanx of the thumb is_a: HP:0009656 ! Symphalangism 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 namespace: medical_genetics 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:curators] xref: UMLS:C0040067 xref: UMLS:C1269613 xref: UMLS:C1968591 is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0009657 ! Triangular shaped phalanges of the thumb 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 namespace: medical_genetics alt_id: HP:0004082 def: "Absence of the distal/terminal phalanx of the thumb." [HPO:curators] synonym: "Absent ossification/absent terminal thumb phalanx" EXACT [] xref: UMLS:C0029433 xref: UMLS:C0040067 xref: UMLS:C0205088 xref: UMLS:C0222682 xref: UMLS:C0223792 xref: UMLS:C0241391 xref: UMLS:C0243065 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0560733 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1705314 xref: UMLS:C1705315 is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the thumb is_a: HP:0009659 ! Aplasia of the phalanges of the 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: Hypoplastic/small distal phalanx of the thumb namespace: medical_genetics alt_id: HP:0004085 alt_id: HP:0004087 def: "Hypoplastic/small distal/terminal phalanx of the thumb." [HPO:curators] synonym: "Hypoplastic terminal thumb phalanx" EXACT [] synonym: "Short terminal thumb phalanx" EXACT [] synonym: "Short thumb terminal phalanx" EXACT [] synonym: "Small terminal thumb phalanx" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0205088 xref: UMLS:C0543481 xref: UMLS:C0560733 xref: UMLS:C0576464 xref: UMLS:C0700321 xref: UMLS:C1269613 xref: UMLS:C1705314 xref: UMLS:C1705315 xref: UMLS:C1837681 xref: UMLS:C1850198 xref: UMLS:C1862313 is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the thumb is_a: HP:0009660 ! Hypoplastic/small phalanges of the thumb is_a: HP:0009882 ! Hypoplasia of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:22:06Z [Term] id: HP:0009651 name: Broad phalanges of the thumb namespace: medical_genetics alt_id: HP:0001173 alt_id: HP:0004073 synonym: "Broad thumb" EXACT [] synonym: "Broad thumbs" EXACT [] synonym: "Wide/broad thumb" EXACT [] synonym: "Wide/broad thumb phalanges" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0223792 xref: UMLS:C0332464 xref: UMLS:C0426891 xref: UMLS:C1269613 xref: UMLS:C1842230 is_a: HP:0009602 ! Abnormality of the phalanges of the thumb is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009652 name: Bullet-shaped phalanges of the thumb namespace: medical_genetics xref: UMLS:C0040067 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C1269613 xref: UMLS:C1706207 is_a: HP:0009602 ! Abnormality of the phalanges of the thumb 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 phalanges of the thumb namespace: medical_genetics xref: UMLS:C0040067 xref: UMLS:C0205134 xref: UMLS:C0223792 xref: UMLS:C1269613 is_a: HP:0004095 ! Curved fingers is_a: HP:0009602 ! Abnormality of the phalanges of the thumb 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 defects of the phalanges of the thumb namespace: medical_genetics xref: UMLS:C0040067 xref: UMLS:C0223792 xref: UMLS:C0243067 xref: UMLS:C1269613 xref: UMLS:C1518633 is_a: HP:0009602 ! Abnormality of the phalanges of the thumb 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 the phalanges of the thumb namespace: medical_genetics def: "Patchy increase in bone density of the phalanges of the thumb." [HPO:curators] xref: UMLS:C0036429 xref: UMLS:C0040067 xref: UMLS:C0205413 xref: UMLS:C0223792 xref: UMLS:C1269613 is_a: HP:0009602 ! Abnormality of the phalanges of the thumb is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009656 name: Symphalangism of the thumb namespace: medical_genetics alt_id: HP:0004068 synonym: "Fused thumb phalanges" EXACT [] xref: UMLS:C0039075 xref: UMLS:C0040067 xref: UMLS:C0223792 xref: UMLS:C0699952 xref: UMLS:C1269613 is_a: HP:0009602 ! Abnormality of the phalanges of the thumb 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 phalanges of the thumb namespace: medical_genetics alt_id: HP:0004072 def: "Triangular shaped phalanges of the thumb finger." [HPO:curators] synonym: "Triangular thumb phalanges" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0205119 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1269613 is_a: HP:0009602 ! Abnormality of the phalanges of the thumb 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 namespace: medical_genetics xref: UMLS:C0040067 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1269613 is_a: HP:0009602 ! Abnormality of the phalanges of the thumb 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: Aplasia of the phalanges of the thumb namespace: medical_genetics alt_id: HP:0004065 synonym: "Absent ossification of thumb phalanges" EXACT [] xref: UMLS:C0029433 xref: UMLS:C0040067 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0560733 xref: UMLS:C1269613 is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb is_a: HP:0009777 ! Aplasia of the thumb created_by: doelkens creation_date: 2009-01-29T05:35:50Z [Term] id: HP:0009660 name: Hypoplastic/small phalanges of the thumb namespace: medical_genetics alt_id: HP:0004069 alt_id: HP:0004071 synonym: "Hypoplastic thumb phalanges" EXACT [] synonym: "Short thumb phalanges" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0223792 xref: UMLS:C0431890 xref: UMLS:C0543481 xref: UMLS:C0700321 xref: UMLS:C1269613 xref: UMLS:C1837680 xref: UMLS:C1848845 xref: UMLS:C1851134 is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the thumb is_a: HP:0009778 ! Hypoplastic/small thumb 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 namespace: medical_genetics 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 [] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0205088 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1704258 xref: UMLS:C1705314 xref: UMLS:C1705315 is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanges of the hand 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 namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1704258 is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0332197 xref: UMLS:C0576462 xref: UMLS:C1269613 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 namespace: medical_genetics 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. 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] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0179407 xref: UMLS:C0576462 xref: UMLS:C1269613 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 namespace: medical_genetics 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] xref: UMLS:C0040067 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1865037 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009688 ! Cone-shaped epiphyses 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 namespace: medical_genetics 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] xref: UMLS:C0040067 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1848495 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009689 ! Enlarged epiphyses of the thumb 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 namespace: medical_genetics def: "Fragmented appearance 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] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0185061 xref: UMLS:C0332472 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1881708 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009690 ! Fragmentation of the epiphyses of the thumb 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 namespace: medical_genetics 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] xref: UMLS:C0040067 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1846449 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009691 ! Irregular epiphyses of the thumb 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 namespace: medical_genetics 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. 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] xref: UMLS:C0040067 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1856911 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009692 ! Ivory epiphyses 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 namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis. 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] xref: UMLS:C0040067 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1841685 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009693 ! Pseudoepiphyses 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 namespace: medical_genetics 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. 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] xref: UMLS:C0040067 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1846803 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009694 ! Small epiphyses of the thumb 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 namespace: medical_genetics 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:curators] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0576462 xref: UMLS:C1269613 xref: UMLS:C1979978 is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the thumb is_a: HP:0009695 ! Stippling of the epiphyses of the thumb 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0205119 xref: UMLS:C0576462 xref: UMLS:C1269613 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 namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the thumb." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0332197 xref: UMLS:C0576464 xref: UMLS:C1269613 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0179407 xref: UMLS:C0576464 xref: UMLS:C1269613 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 namespace: medical_genetics 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:curators] synonym: "Cone-shaped terminal thumb phalanx epiphysis" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0205088 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1705314 xref: UMLS:C1705315 xref: UMLS:C1859450 xref: UMLS:C1865037 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009688 ! Cone-shaped epiphyses 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 namespace: medical_genetics 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 [] xref: UMLS:C0040067 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1848495 xref: UMLS:C1849230 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009689 ! Enlarged epiphyses of the thumb 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 namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the distal phalanx of the thumb." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0185061 xref: UMLS:C0332472 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1881708 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009690 ! Fragmentation of the epiphyses of the thumb 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 namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the thumb." [HPO:curators] xref: UMLS:C0040067 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1846449 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009691 ! Irregular epiphyses of the thumb 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 namespace: medical_genetics 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:curators] xref: UMLS:C0040067 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1856911 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009692 ! Ivory epiphyses 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 namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] xref: UMLS:C0040067 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1841685 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009693 ! Pseudoepiphyses 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 namespace: medical_genetics 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:curators] xref: UMLS:C0040067 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1846803 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009694 ! Small epiphyses of the thumb 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 namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the thumb." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0576464 xref: UMLS:C1269613 xref: UMLS:C1979978 is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the thumb is_a: HP:0009695 ! Stippling of the epiphyses of the thumb 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0205119 xref: UMLS:C0576464 xref: UMLS:C1269613 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 namespace: medical_genetics def: "Absence of one or more epiphyses of the thumb." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0332197 xref: UMLS:C1269613 is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb 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 namespace: medical_genetics 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] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0179407 xref: UMLS:C1269613 is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb 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 epiphyses of the thumb namespace: medical_genetics 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:curators] synonym: "Cone-shaped thumb epiphyses" EXACT [] xref: UMLS:C0040067 xref: UMLS:C1269613 xref: UMLS:C1865037 is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb 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 epiphyses of the thumb namespace: medical_genetics def: "Abnormally large size of the epiphyses of the thumb with respect to age-dependent norms." [HPO:curators] xref: UMLS:C0040067 xref: UMLS:C1269613 xref: UMLS:C1848495 is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb 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 the epiphyses of the thumb namespace: medical_genetics def: "Fragmented appearance of the epiphyses of the thumb." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0185061 xref: UMLS:C0332472 xref: UMLS:C1269613 xref: UMLS:C1881708 is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb 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 epiphyses of the thumb namespace: medical_genetics def: "Irregular radiographic opacity of the epiphyses of the thumb." [HPO:curators] xref: UMLS:C0040067 xref: UMLS:C1269613 xref: UMLS:C1846449 is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb 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 epiphyses of the thumb namespace: medical_genetics def: "Sclerosis of the epiphyses of the thumb, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] xref: UMLS:C0040067 xref: UMLS:C1269613 xref: UMLS:C1856911 is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009693 name: Pseudoepiphyses of the thumb namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] xref: UMLS:C0040067 xref: UMLS:C1269613 xref: UMLS:C1841685 is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb 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 epiphyses of the thumb namespace: medical_genetics def: "Abnormally small size of the epiphyses of the thumb with respect to age-dependent norms." [HPO:curators] xref: UMLS:C0040067 xref: UMLS:C1269613 xref: UMLS:C1846803 is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb 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 the epiphyses of the thumb namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the thumb." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C1269613 xref: UMLS:C1979978 is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb is_a: HP:0010237 ! Stippling of the epiphyses of the phalanges of the hand created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009696 name: Triangular epiphyses of the thumb namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0040067 xref: UMLS:C0205119 xref: UMLS:C1269613 is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb 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: Contractures of the distal interphalangeal joints of the fingers namespace: medical_genetics def: "Contractures of one or more distal interphalangeal joints of the fingers." [HPO:curators] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0549188 xref: UMLS:C0932510 is_a: HP:0001220 ! Interphalangeal joint contractures (hands) created_by: doelkens creation_date: 2009-01-30T04:01:28Z [Term] id: HP:0009698 name: Contractures of the proximal interphalangeal joints of the fingers namespace: medical_genetics alt_id: HP:0005713 alt_id: HP:0005801 alt_id: HP:0006240 def: "Contractures of one or more proximal interphalangeal joints of the fingers." [HPO:curators] synonym: "Camptodactyly of proximal interphalangeal joint" EXACT [] synonym: "Flexion contractures of proximal interphalangeal joints" EXACT [] synonym: "Proximal interphalangeal finger joint contractures" EXACT [] xref: UMLS:C0009917 xref: UMLS:C0016129 xref: UMLS:C0205107 xref: UMLS:C0221369 xref: UMLS:C0333068 xref: UMLS:C0549188 xref: UMLS:C0685409 xref: UMLS:C0851278 xref: UMLS:C0932508 xref: UMLS:C1281584 xref: UMLS:C1853485 is_a: HP:0001220 ! Interphalangeal joint contractures (hands) created_by: doelkens creation_date: 2009-01-30T04:02:13Z [Term] id: HP:0009699 name: Osteolytic defects of the hand bones namespace: medical_genetics alt_id: HP:0004282 synonym: "Lytic defects of hand bones" EXACT [] xref: UMLS:C0024348 xref: UMLS:C0243067 xref: UMLS:C0439680 xref: UMLS:C0448064 xref: UMLS:C1518633 is_a: HP:0001155 ! Abnormality of the hand created_by: doelkens creation_date: 2009-01-30T04:08:52Z [Term] id: HP:0009700 name: Synostosis involving bones of the fingers namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0039075 xref: UMLS:C0039093 xref: UMLS:C0262950 xref: UMLS:C0391889 xref: UMLS:C0549188 xref: UMLS:C1266909 xref: UMLS:C1281583 xref: UMLS:C1314939 xref: UMLS:C1368355 xref: UMLS:C1552914 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: Synostosis involving the metacarpal bones namespace: medical_genetics 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:curators] synonym: "Metacarpal synostosis" EXACT [] synonym: "Synostosis involving metacarpal bones" EXACT [] xref: UMLS:C0025526 xref: UMLS:C0039093 xref: UMLS:C0391889 xref: UMLS:C1182937 xref: UMLS:C1269064 xref: UMLS:C1314939 xref: UMLS:C1368355 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: Synostosis involving the carpal bones namespace: medical_genetics alt_id: HP:0001192 alt_id: HP:0005799 synonym: "Carpal bone fusion" EXACT [] synonym: "Carpal fusion" EXACT [] synonym: "Carpal synostosis" EXACT [] synonym: "Fused carpal bones" EXACT [] xref: UMLS:C0007285 xref: UMLS:C0039093 xref: UMLS:C0391889 xref: UMLS:C0431863 xref: UMLS:C1314939 xref: UMLS:C1368355 xref: UMLS:C1836193 xref: UMLS:C1836220 xref: UMLS:C1861334 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 namespace: medical_genetics 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 [] xref: UMLS:C0025525 xref: UMLS:C0025526 xref: UMLS:C0039075 xref: UMLS:C0039093 xref: UMLS:C0205435 xref: UMLS:C0391889 xref: UMLS:C0392760 xref: UMLS:C1269064 xref: UMLS:C1269602 xref: UMLS:C1279901 xref: UMLS:C1314939 xref: UMLS:C1368355 is_a: HP:0009656 ! Symphalangism of the thumb is_a: HP:0009701 ! Synostosis involving the metacarpal bones 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 namespace: medical_genetics 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:curators] xref: UMLS:C0205191 xref: UMLS:C0427877 xref: UMLS:C1547296 xref: UMLS:C1555457 is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid created_by: peter creation_date: 2009-01-30T06:24:59Z [Term] id: HP:0009705 name: Synostosis involving the 2nd metacarpal namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0039093 xref: UMLS:C0205436 xref: UMLS:C0391889 xref: UMLS:C1269064 xref: UMLS:C1314939 xref: UMLS:C1368355 is_a: HP:0009701 ! Synostosis involving the metacarpal bones 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 namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0039093 xref: UMLS:C0205437 xref: UMLS:C0391889 xref: UMLS:C1269064 xref: UMLS:C1314939 xref: UMLS:C1368355 is_a: HP:0009701 ! Synostosis involving the metacarpal bones 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 namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0039093 xref: UMLS:C0205438 xref: UMLS:C0391889 xref: UMLS:C1269064 xref: UMLS:C1314939 xref: UMLS:C1368355 is_a: HP:0009701 ! Synostosis involving the metacarpal bones 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 namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0039093 xref: UMLS:C0205439 xref: UMLS:C0391889 xref: UMLS:C1269064 xref: UMLS:C1314939 xref: UMLS:C1368355 is_a: HP:0009701 ! Synostosis involving the metacarpal bones 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 namespace: medical_genetics def: "Increased concentration of interferon alpha in the cerebrospinal fluid (CSF)." [HPO:curators] xref: UMLS:C0002199 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C0751598 xref: UMLS:C1610033 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 namespace: medical_genetics def: "Chilblains are acral ulcers." [HPO:curators] xref: UMLS:C0008058 xref: UMLS:C0221198 is_a: HP:0001167 ! Abnormality of the fingers created_by: peter creation_date: 2009-01-30T07:26:24Z [Term] id: HP:0009711 name: Retinal hemangioblastoma namespace: medical_genetics 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:curators] xref: UMLS:C1514915 is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0001028 ! Hemangiomas created_by: peter creation_date: 2009-01-30T11:08:05Z [Term] id: HP:0009712 name: Tumor of the spinal cord namespace: medical_genetics def: "A `neoplasm` (MPATH:218) affecting the `spinal cord` (FMA:7647)." [HPO:curators] xref: UMLS:C0027651 xref: UMLS:C0037925 xref: UMLS:C1278836 xref: UMLS:C1578706 is_a: HP:0100006 ! Neoplasm of the central nervous system created_by: peter creation_date: 2009-01-30T11:23:51Z [Term] id: HP:0009713 name: Spinal hemangioblastoma namespace: medical_genetics def: "A 'hemangioblastoma` (HP:0010797) of the `spinal cord` (FMA:7647)." [HPO:curators] xref: UMLS:C0206734 xref: UMLS:C0521329 is_a: HP:0009712 ! Tumor of the spinal cord is_a: HP:0010797 ! Hemangioblastoma created_by: peter creation_date: 2009-01-30T11:24:31Z [Term] id: HP:0009714 name: Abnormality of the epididymis namespace: medical_genetics def: "An abnormality of the `epididymis` (FMA:18255)." [HPO:probinson] comment: The epididymis is the structure that connects efferent ductules to vas deferens. xref: UMLS:C0000768 xref: UMLS:C0014533 xref: UMLS:C1278982 xref: UMLS:C1704258 is_a: HP:0000022 ! Abnormality of male internal genitalia created_by: peter creation_date: 2009-01-30T11:44:43Z [Term] id: HP:0009715 name: Papillary cystadenoma of the epididymis namespace: medical_genetics def: "The presence of a `papillary cystadenoma` (MPATH:298) of the `epididymis` (FMA:18255)." [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. xref: UMLS:C0010636 xref: UMLS:C0014533 xref: UMLS:C1278982 is_a: HP:0009714 ! Abnormality of the epididymis created_by: peter creation_date: 2009-01-30T11:46:33Z [Term] id: HP:0009716 name: Subependymal nodules namespace: medical_genetics 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 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 namespace: medical_genetics 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 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 namespace: medical_genetics 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 is_a: HP:0009592 ! Astrocytoma created_by: peter creation_date: 2009-01-31T12:07:02Z [Term] id: HP:0009719 name: Hypomelanotic macules namespace: medical_genetics 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:curators] xref: UMLS:C0162835 xref: UMLS:C0332573 is_a: HP:0001010 ! Hypopigmentation of the skin is_a: HP:0200031 ! macules created_by: peter creation_date: 2009-01-31T12:16:52Z [Term] id: HP:0009720 name: Adenoma sebaceum namespace: medical_genetics def: "The presence of a `sebaceous adenoma` (MPATH:230) with origin in the `sebum secreting cells` (CL:000031) of the `skin` (FMA:7163)." [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 [] xref: UMLS:C0041341 xref: UMLS:C0265319 is_a: HP:0000271 ! Abnormality of the face is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0010615 ! Angiofibromas created_by: peter creation_date: 2009-01-31T12:19:37Z [Term] id: HP:0009721 name: Shagreen patch namespace: medical_genetics 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-coloured or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather." [HPO:curators] xref: UMLS:C0432363 is_a: HP:0000951 ! Abnormality of the skin created_by: peter creation_date: 2009-01-31T09:36:32Z [Term] id: HP:0009722 name: Dental enamel pits namespace: medical_genetics def: "The presence of pits in the dental enamel." [HPO:curators] xref: UMLS:C0011350 xref: UMLS:C0175697 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 namespace: medical_genetics def: "A lesion located beneath a fingernail or toenail." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0017446 xref: UMLS:C0205147 xref: UMLS:C1704258 is_a: HP:0001597 ! Abnormality of the nail created_by: peter creation_date: 2009-01-31T09:49:06Z [Term] id: HP:0009724 name: Subungual fibromata namespace: medical_genetics def: "The presence of fibromata beneath finger or toenails." [HPO:curators] synonym: "Subungual fibromas" RELATED [] xref: UMLS:C0266003 is_a: HP:0009723 ! Abnormality of the subungual region created_by: peter creation_date: 2009-01-31T09:49:51Z [Term] id: HP:0009725 name: Bladder neoplasm namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `urinary bladder` (FMA:15900)." [HPO:probinson] synonym: "Bladder tumor" RELATED [] xref: UMLS:C0005695 is_a: HP:0010786 ! Urinary tract neoplasm created_by: peter creation_date: 2009-01-31T10:43:55Z [Term] id: HP:0009726 name: Renal neoplasm namespace: medical_genetics alt_id: HP:0005933 def: "The presence of a `neoplasm` (MPATH:218) of the `kidney` (FMA:7203)." [HPO:probinson] synonym: "Kidney cancer" BROAD [] synonym: "Neoplasia of the kidneys" EXACT [] synonym: "Renal neoplasia" RELATED [] synonym: "Renal tumors" EXACT [] xref: UMLS:C0022665 xref: UMLS:C0740457 xref: UMLS:C1378703 is_a: HP:0000077 ! Abnormality of the kidney is_a: HP:0010786 ! Urinary tract neoplasm created_by: peter creation_date: 2009-01-31T10:41:48Z [Term] id: HP:0009727 name: Achromatic retinal patches namespace: medical_genetics def: "Areas of the retina lacking pigmentation." [HPO:curators] xref: UMLS:C1860710 is_a: HP:0007703 ! Abnormal retinal pigmentation created_by: peter creation_date: 2009-01-31T10:49:15Z [Term] id: HP:0009728 name: Tumors of striated muscle namespace: medical_genetics def: "A tumor originating in straited muscle, either skeletal muscle or cardiac muscle." [HPO:curators] xref: UMLS:C0027651 xref: UMLS:C1331262 is_a: HP:0002664 ! Neoplasia created_by: peter creation_date: 2009-01-31T10:52:25Z [Term] id: HP:0009729 name: Cardiac rhabdomyoma namespace: medical_genetics def: "A benign tumor of cardiac striated muscle." [HPO:curators] xref: UMLS:C1332852 is_a: HP:0009730 ! Rhabdomyoma created_by: peter creation_date: 2009-01-31T10:53:11Z [Term] id: HP:0009730 name: Rhabdomyoma namespace: medical_genetics def: "A benign tumor of striated muscle." [HPO:curators] xref: UMLS:C0035411 is_a: HP:0009728 ! Tumors of striated muscle created_by: peter creation_date: 2009-01-31T10:54:01Z [Term] id: HP:0009731 name: Cerebral hamartomata namespace: medical_genetics def: "The presence of a `hamartoma` of the `cerebrum` (FMA:62000)." [HPO:probinson] comment: Hamartomatous lesions (benign focal lesions composed of disorganized tissue elements) affecting and sometimes originating from the cerebrum. xref: UMLS:C0018552 is_a: HP:0010566 ! Hamartoma is_a: HP:0100006 ! Neoplasm of the central nervous system created_by: peter creation_date: 2009-01-31T11:02:09Z [Term] id: HP:0009732 name: Plexiform neurofibroma namespace: medical_genetics def: "A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure." [HPO:curators] xref: UMLS:C0206728 is_a: HP:0001067 ! Neurofibromas created_by: peter creation_date: 2009-01-31T11:12:32Z [Term] id: HP:0009733 name: Glioma namespace: medical_genetics def: "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)." [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: UMLS:C0017638 xref: UMLS:C0555198 is_a: HP:0100006 ! Neoplasm of the central nervous system created_by: peter creation_date: 2009-01-31T11:15:22Z [Term] id: HP:0009734 name: Optic glioma namespace: medical_genetics def: "A `glioma` (HP:0009733) originating in the `optic nerve` (FMA:50863) or `optic chiasm` (FMA:62045)." [HPO:curators] xref: UMLS:C0346326 is_a: HP:0009733 ! Glioma created_by: peter creation_date: 2009-01-31T11:17:13Z [Term] id: HP:0009735 name: Spinal neurofibromas namespace: medical_genetics def: "Neurofibromas originating in the spine." [HPO:curators] xref: UMLS:C0027830 xref: UMLS:C0521329 is_a: HP:0001067 ! Neurofibromas created_by: peter creation_date: 2009-01-31T11:19:24Z [Term] id: HP:0009736 name: Tibial pseudoarthrosis namespace: medical_genetics 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] xref: UMLS:C0033785 xref: UMLS:C0040184 is_a: HP:0002992 ! Abnormality of the tibia created_by: peter creation_date: 2009-01-31T11:22:24Z [Term] id: HP:0009737 name: Lisch nodules namespace: medical_genetics def: "The presence of pigmented, oval and dome-shaped raised hamartomatous nevi of the `iris` (FMA:58235).." [HPO:curators] synonym: "Iris hamartomas" EXACT [] xref: UMLS:C1860334 is_a: HP:0000525 ! Abnormality of the iris is_a: HP:0010568 ! Hamartomas of the eye created_by: peter creation_date: 2009-01-31T11:45:04Z [Term] id: HP:0009738 name: Abnormality of the antihelix namespace: medical_genetics def: "An abnormality of the `antihelix` (FMA:60995)." [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. synonym: "Abnormal antihelix" EXACT [] xref: UMLS:C0205161 xref: UMLS:C0229308 xref: UMLS:C1281123 xref: UMLS:C2347472 is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2009-01-31T12:39:37Z [Term] id: HP:0009739 name: Hypoplasia of the antihelix namespace: medical_genetics def: "Developmental hypoplasia of the `antihelix` (FMA:60995)." [HPO:probinson] synonym: "Hypoplastic antihelix" EXACT [] xref: UMLS:C0229308 xref: UMLS:C0543481 xref: UMLS:C1281123 is_a: HP:0009738 ! Abnormality of the antihelix created_by: peter creation_date: 2009-01-31T12:41:43Z [Term] id: HP:0009740 name: Aplasia of the parotid gland namespace: medical_genetics def: "Absence of the parotid gland." [HPO:curators] synonym: "Absence of the parotid gland" RELATED [] xref: UMLS:C0030580 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1278916 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0000197 ! Abnormality of parotid gland created_by: peter creation_date: 2009-01-31T12:51:47Z [Term] id: HP:0009741 name: Nephrosclerosis namespace: medical_genetics 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: UMLS:C0027719 is_a: HP:0000077 ! Abnormality of the kidney created_by: peter creation_date: 2009-01-31T01:15:08Z [Term] id: HP:0009742 name: Stiff shoulders namespace: medical_genetics 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 is_a: HP:0001387 ! Joint stiffness created_by: peter creation_date: 2009-01-31T02:02:05Z [Term] id: HP:0009743 name: Distichiasis namespace: medical_genetics def: "Distichiasis refers to ouble rows of eyelashes." [HPO:curators] xref: UMLS:C0423848 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 namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0228124 xref: UMLS:C1704258 is_a: HP:0010303 ! Abnormality of the spinal meninges created_by: peter creation_date: 2009-01-31T02:20:51Z [Term] id: HP:0009745 name: Epidural arachnoid cysts of the spinal canal namespace: medical_genetics def: "Presence of arachnoid cysts of the spinal canal extradurally in the epidural space." [HPO:curators] xref: UMLS:C0037922 xref: UMLS:C0078981 xref: UMLS:C0592511 xref: UMLS:C1526986 xref: UMLS:C1550254 is_a: HP:0009744 ! Abnormality of the spinal dura mater created_by: peter creation_date: 2009-01-31T02:22:38Z [Term] id: HP:0009746 name: Thick nasal septum namespace: medical_genetics def: "Abnormally increased thickness of the nasal septum." [HPO:curators] xref: UMLS:C1844810 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 namespace: medical_genetics def: "Abnormally increased hair growth in the lumbosacral region." [HPO:curators] xref: UMLS:C1851095 is_a: HP:0009889 ! Localized hirsutism created_by: peter creation_date: 2009-01-31T03:21:52Z [Term] id: HP:0009748 name: Fleshy earlobes namespace: medical_genetics def: "Abnormally thickened or fleshy earlobes." [HPO:curators] xref: UMLS:C1844573 is_a: HP:0000363 ! Abnormality of ear lobes created_by: peter creation_date: 2009-01-31T04:02:42Z [Term] id: HP:0009749 name: Short, curved femora namespace: medical_genetics def: "Abnormally short and curved femoral bones." [HPO:curators] xref: UMLS:C0205134 xref: UMLS:C1397248 is_a: HP:0003097 ! Short femur created_by: peter creation_date: 2009-01-31T04:48:14Z [Term] id: HP:0009750 name: Short, flared ribs namespace: medical_genetics def: "Abnormally short ribs with flaring from proximal to distal." [HPO:curators] xref: UMLS:C0426817 xref: UMLS:C1517205 is_a: HP:0000773 ! Short ribs created_by: peter creation_date: 2009-01-31T04:51:05Z [Term] id: HP:0009751 name: Aplasia of the pectoralis major muscle namespace: medical_genetics def: "Absence of the pectoralis major muscle." [HPO:curators] xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0585574 is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia created_by: peter creation_date: 2009-01-31T05:18:55Z [Term] id: HP:0009752 name: Cleft in skull base namespace: medical_genetics def: "A bony defect in the skull base." [HPO:curators] xref: UMLS:C0149543 xref: UMLS:C0205242 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 namespace: medical_genetics def: "Fibrous syngnathia is a congenital adhesion of the maxilla and mandible by fibrous bands, involving 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. synonym: "Fusion of the alveolar ridges" EXACT [] xref: UMLS:C1861546 is_a: HP:0000190 ! Abnormality of oral frenula is_a: HP:0000277 ! Abnormality of the mandible created_by: peter creation_date: 2009-01-31T08:50:29Z [Term] id: HP:0009755 name: Ankyloblepharon namespace: medical_genetics def: "Adhesion of the ciliary edges of the eyelids to each other." [HPO:curators] xref: UMLS:C0339182 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 namespace: medical_genetics def: "A pterygium (or pterygia) occuring in the popliteal region (the back of the knee)." [HPO:curators] xref: UMLS:C1861547 is_a: HP:0001059 ! Pterygia created_by: peter creation_date: 2009-01-31T08:54:18Z [Term] id: HP:0009757 name: Intercrural pterygium namespace: medical_genetics def: "A pterygium (or pterygia) in the intercrural (groin) region." [HPO:curators] xref: UMLS:C1861548 is_a: HP:0001059 ! Pterygia 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 namespace: medical_genetics 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] xref: UMLS:C0027342 xref: UMLS:C0178499 xref: UMLS:C0439792 xref: UMLS:C1626935 xref: UMLS:C1704458 xref: UMLS:C1880279 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 namespace: medical_genetics def: "Pterygia affecting the neck." [HPO:curators] xref: UMLS:C1849577 is_a: HP:0001059 ! Pterygia created_by: peter creation_date: 2009-01-31T10:10:09Z [Term] id: HP:0009760 name: Antecubital pterygium namespace: medical_genetics 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:curators] synonym: "Pterygium cubitale" EXACT [] synonym: "Webbed elbow" EXACT [] xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C0033998 xref: UMLS:C0033999 xref: UMLS:C0282111 xref: UMLS:C0332875 xref: UMLS:C0750865 xref: UMLS:C1305417 xref: UMLS:C1867439 is_a: HP:0001059 ! Pterygia created_by: peter creation_date: 2009-01-31T10:12:24Z [Term] id: HP:0009761 name: Anterior clefting of vertebral bodies namespace: medical_genetics xref: UMLS:C0205094 xref: UMLS:C0223084 is_a: HP:0008428 ! Vertebral clefts created_by: peter creation_date: 2009-01-31T10:40:39Z [Term] id: HP:0009762 name: Facial wrinkling namespace: medical_genetics def: "Excessive wrinkling of the skin of the face." [HPO:curators] xref: UMLS:C0262478 is_a: HP:0100678 ! Wrinkled skin created_by: peter creation_date: 2009-02-01T03:12:09Z [Term] id: HP:0009763 name: Limb pain namespace: medical_genetics def: "Chronic pain in the limbs with no clear focal etiology." [HPO:curators] synonym: "Pain in extremities" RELATED [] xref: UMLS:C0015385 xref: UMLS:C0030193 xref: UMLS:C0030196 xref: UMLS:C1962977 xref: UMLS:C2364139 is_a: HP:0000924 ! Abnormality of the musculoskeletal system created_by: peter creation_date: 2009-02-01T03:55:10Z [Term] id: HP:0009764 name: Fleshy upturned lobules namespace: medical_genetics def: "Large, uplifted earlobes as is characteristic of Mowat-Wilson syndrome." [HPO:curators] xref: UMLS:C1856117 is_a: HP:0009748 ! Fleshy earlobes created_by: peter creation_date: 2009-02-01T10:52:52Z [Term] id: HP:0009765 name: Columella, low hanging namespace: medical_genetics 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: "Extension of the columella below the ala nasi" EXACT [] xref: UMLS:C0205251 xref: UMLS:C0225431 xref: UMLS:C0231448 xref: UMLS:C0231449 xref: UMLS:C0439792 xref: UMLS:C0458563 xref: UMLS:C0544691 xref: UMLS:C1283890 xref: UMLS:C1299352 xref: UMLS:C1504610 xref: UMLS:C1522549 xref: UMLS:C1550472 xref: UMLS:C1820372 xref: UMLS:C1880641 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 namespace: medical_genetics 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:curators] synonym: "Aplastic/hypoplastic phalanges" EXACT [] synonym: "Aplastic/hypoplastic phalanges of the hand" EXACT [] synonym: "Hypoplastic/absent phalanges" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1848845 is_a: HP:0005918 ! Abnormality of the phalanges of the hand is_a: HP:0100667 ! Brachydactyly (hand) created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009768 name: Broad phalanges of the hand namespace: medical_genetics alt_id: HP:0001246 alt_id: HP:0006260 def: "Increased width of the phalanges of the hand." [HPO:curators] synonym: "Broad phalanges" EXACT [] synonym: "Widening of phalanges of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0332464 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1842230 is_a: HP:0001500 ! Broad fingers is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009769 name: Bullet-shaped phalanges of the hand namespace: medical_genetics 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 [] xref: UMLS:C0018563 xref: UMLS:C0205108 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0444930 xref: UMLS:C0522512 xref: UMLS:C1281583 xref: UMLS:C1522314 xref: UMLS:C1552914 xref: UMLS:C1706207 xref: UMLS:C2350017 is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009770 name: Curved phalanges of the hand namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0205134 xref: UMLS:C0223792 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009771 name: Osteolytic defects of the phalanges of the hand namespace: medical_genetics 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:C0018563 xref: UMLS:C0223792 xref: UMLS:C0243067 xref: UMLS:C0917990 xref: UMLS:C1281583 xref: UMLS:C1518633 xref: UMLS:C1552914 is_a: HP:0002797 ! Osteolysis is_a: HP:0005918 ! Abnormality of the phalanges of the hand is_a: HP:0010660 ! Abnormality of the mineralisation and ossification of bones of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009772 name: Patchy sclerosis of the phalanges of the hand namespace: medical_genetics alt_id: HP:0006071 def: "Patchy increase in bone density of the phalanges of the hand." [HPO:curators] synonym: "Phalangeal sclerosis" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0223792 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1857508 is_a: HP:0005686 ! Patchy osteosclerosis is_a: HP:0005918 ! Abnormality of the phalanges of the hand is_a: HP:0010660 ! Abnormality of the mineralisation and ossification of bones of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009773 name: Symphalangism affecting the phalanges of the hand namespace: medical_genetics 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 [] xref: UMLS:C0018563 xref: UMLS:C0039075 xref: UMLS:C0039093 xref: UMLS:C0223792 xref: UMLS:C0391889 xref: UMLS:C0392760 xref: UMLS:C1281583 xref: UMLS:C1314939 xref: UMLS:C1368355 xref: UMLS:C1552914 is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009774 name: Triangular shaped phalanges of the hand namespace: medical_genetics alt_id: HP:0006085 alt_id: HP:0009874 synonym: "Delta phalanx/delta-like phalanx" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0205119 xref: UMLS:C0222682 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1705241 is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009775 name: Amniotic bands namespace: medical_genetics 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 strangs." [HPO:curators] comment: Pseudoainhum is a rare condition of unknown etiology that produces digital constricting rings, most commonly on the small fingers. synonym: "Amniotic constriction band" RELATED [] synonym: "Pseudoainhum" EXACT [] xref: UMLS:C0334166 xref: UMLS:C1527388 is_a: HP:0000951 ! Abnormality of the skin created_by: doelkens creation_date: 2009-02-02T05:36:41Z [Term] id: HP:0009776 name: Adactyly namespace: medical_genetics def: "The absence of all phalanges of all 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. xref: UMLS:C0238591 is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-02-02T05:44:39Z [Term] id: HP:0009777 name: Aplasia of the thumb namespace: medical_genetics alt_id: HP:0001185 alt_id: HP:0002802 alt_id: HP:0009627 def: "Absent thumb." [HPO:curators] synonym: "Absent thumb" EXACT [] synonym: "Absent thumbs" EXACT [] synonym: "Thumb aplasia" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0241391 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1269613 is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb created_by: doelkens creation_date: 2009-02-02T05:46:42Z [Term] id: HP:0009778 name: Hypoplastic/small thumb namespace: medical_genetics alt_id: HP:0001183 alt_id: HP:0001186 alt_id: HP:0001589 alt_id: HP:0009628 synonym: "Hypoplastic thumb" EXACT [] synonym: "Hypoplastic thumbs" EXACT [] synonym: "Short thumb" EXACT [] synonym: "Short thumbs" EXACT [] synonym: "Small thumbs" EXACT [] synonym: "Thumb hypoplasia" EXACT [] xref: UMLS:C0431890 xref: UMLS:C0543481 xref: UMLS:C1849182 xref: UMLS:C1849315 xref: UMLS:C1851134 is_a: HP:0009381 ! Hypoplastic/small fingers is_a: HP:0009601 ! Aplasia/Hypoplasia of the thumb created_by: doelkens creation_date: 2009-02-02T05:46:42Z [Term] id: HP:0009779 name: 3-4 toe syndactyly namespace: medical_genetics alt_id: HP:0004708 def: "`Syndactyly` (HP:0001159) with fusion of toes three and four." [HPO:sdoelken] synonym: "syndactyly of 3rd - 4th toes" EXACT [] xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C0205438 xref: UMLS:C0265660 xref: UMLS:C2117411 is_a: HP:0001770 ! Toe syndactyly created_by: peter creation_date: 2009-02-03T04:43:16Z [Term] id: HP:0009780 name: Iliac horns namespace: medical_genetics 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 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 namespace: medical_genetics def: "A zone of darker pigmentation around the central part of the `iris` (FMA:58235) with a roughly cloverleaf or flower shape." [HPO:probinson] xref: UMLS:C0311392 xref: UMLS:C1547188 is_a: HP:0008034 ! Abnormal iris pigmentation created_by: peter creation_date: 2009-02-03T04:50:17Z [Term] id: HP:0009782 name: Aplasia/Hypoplasia of the biceps namespace: medical_genetics def: "Absence or underdevelopment of the biceps muscle." [HPO:curators] xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0559499 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 namespace: medical_genetics def: "Absence of the biceps muscle." [HPO:curators] xref: UMLS:C1834394 is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps created_by: peter creation_date: 2009-02-03T04:57:47Z [Term] id: HP:0009784 name: Aplasia/Hypoplasia of the triceps namespace: medical_genetics def: "Absence or underdevelopment of the triceps muscle." [HPO:curators] xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0559502 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 namespace: medical_genetics def: "Absence of the triceps muscle." [HPO:curators] xref: UMLS:C1834395 is_a: HP:0009784 ! Aplasia/Hypoplasia of the triceps created_by: peter creation_date: 2009-02-03T05:15:21Z [Term] id: HP:0009786 name: Aplasia/Hypoplasia of the musculature of the thigh namespace: medical_genetics def: "Absence or underdevelopment involving the musculature of the thigh." [HPO:curators] xref: UMLS:C0039866 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1281586 xref: UMLS:C1995013 is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs created_by: peter creation_date: 2009-02-03T05:16:42Z [Term] id: HP:0009787 name: Aplasia/Hypoplasia of the qudriceps namespace: medical_genetics def: "Absence or underdevelopment of the quadriceps muscle." [HPO:curators] xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 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 namespace: medical_genetics def: "Absence of the quadriceps muscle." [HPO:curators] xref: UMLS:C1834396 is_a: HP:0009787 ! Aplasia/Hypoplasia of the qudriceps created_by: peter creation_date: 2009-02-03T05:18:11Z [Term] id: HP:0009789 name: Perianal abscess namespace: medical_genetics def: "The presence of an abscess located around the anus." [HPO:curators] xref: UMLS:C0031019 xref: UMLS:C1546735 is_a: HP:0002722 ! Abscess formation in any organ is_a: HP:0004378 ! Abnormality of the anus created_by: peter creation_date: 2009-02-03T05:19:42Z [Term] id: HP:0009790 name: Hemisacrum (S2-S5) namespace: medical_genetics def: "A hemisacral defect involving the sacral vertebrae S2 to S5." [HPO:curators] xref: UMLS:C1179705 xref: UMLS:C1179708 xref: UMLS:C1419032 xref: UMLS:C1861425 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 namespace: medical_genetics def: "Presence of a `bifid` (PATO:0001572) `sacral bone` (FMA:16202)." [HPO:probinson] xref: UMLS:C0036037 xref: UMLS:C0443152 xref: UMLS:C1269542 is_a: HP:0005107 ! Abnormality of the sacrum created_by: peter creation_date: 2009-02-03T05:22:25Z [Term] id: HP:0009792 name: Teratoma namespace: medical_genetics def: "The presence of a `teratoma` (MPATH:322)." [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: UMLS:C0039538 is_a: HP:0002664 ! Neoplasia created_by: peter creation_date: 2009-02-03T05:23:03Z [Term] id: HP:0009793 name: Presacral teratoma namespace: medical_genetics 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 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 namespace: medical_genetics 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. synonym: "Branchial anomalies" EXACT [] xref: UMLS:C1862066 is_a: HP:0000383 ! Abnormality of periauricular region 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 namespace: medical_genetics def: "A congenital fistula in the neck resulting from incomplete closure of a branchial cleft." [HPO:sdoelken] synonym: "Branchial cleft fistula" EXACT [] xref: UMLS:C0546968 is_a: HP:0009794 ! Branchial anomaly created_by: peter creation_date: 2009-02-11T05:17:12Z [Term] id: HP:0009796 name: Branchial cyst namespace: medical_genetics 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 is_a: HP:0009794 ! Branchial anomaly created_by: peter creation_date: 2009-02-11T05:18:08Z [Term] id: HP:0009797 name: Cholesteatoma namespace: medical_genetics def: "Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process." [HPO:curators] xref: UMLS:C0008373 is_a: HP:0000370 ! Abnormality of the middle ear created_by: peter creation_date: 2009-02-11T05:20:04Z [Term] id: HP:0009798 name: Euthyroid goiter namespace: medical_genetics def: "A `goiter` (HP:0000853) that is not associated with functional thyroid abnormalities." [HPO:probinson] xref: UMLS:C0302859 is_a: HP:0000853 ! Goiter created_by: peter creation_date: 2009-02-11T05:21:23Z [Term] id: HP:0009799 name: Supernumerary spleens namespace: medical_genetics def: "The presence of two or more accessory spleens." [HPO:curators] xref: UMLS:C0266631 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 namespace: medical_genetics 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: UMLS:C0020456 xref: UMLS:C0085207 xref: UMLS:C1858460 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 namespace: medical_genetics def: "Absence of one or more of the phalanges of the hand." [HPO:curators] xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-02-12T05:56:07Z [Term] id: HP:0009803 name: Hypoplastic/small phalanges of the hand namespace: medical_genetics alt_id: HP:0001168 alt_id: HP:0005771 alt_id: HP:0006087 alt_id: HP:0006126 synonym: "Hypoplastic phalanges" EXACT [] synonym: "Hypoplastic phalanges of hands" EXACT [] synonym: "Phalangeal hypoplasia" EXACT [] synonym: "Rudimentary phalanges" EXACT [] synonym: "Short fingers" EXACT [] synonym: "Short phalanges" EXACT [] synonym: "Shortened phalanges" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0239594 xref: UMLS:C0543481 xref: UMLS:C0700321 xref: UMLS:C0877165 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1837680 xref: UMLS:C1837769 xref: UMLS:C1848845 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-02-12T05:57:11Z [Term] id: HP:0009804 name: Reduced number of teeth namespace: medical_genetics def: "The presence of a `reduced number` (PATO:0001997) of `teeth` (FMA:12516)." [HPO:probinson] 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). xref: UMLS:C0040426 xref: UMLS:C0237753 xref: UMLS:C0392756 xref: UMLS:C0449788 xref: UMLS:C2239132 is_a: HP:0006483 ! Abnormal number of teeth creation_date: 2009-02-14T06:20:53Z [Term] id: HP:0009805 name: Low-output congestive heart failure namespace: medical_genetics 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] xref: UMLS:C0018802 xref: UMLS:C0205251 xref: UMLS:C1299352 xref: UMLS:C1550472 xref: UMLS:C1709366 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 namespace: medical_genetics def: "A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP)." [HPO:curators] xref: UMLS:C0162283 is_a: HP:0000873 ! Diabetes insipidus created_by: peter creation_date: 2009-02-16T11:23:28Z [Term] id: HP:0009807 name: Single brain ventricle namespace: medical_genetics def: "The presence of a single cerebral ventricle (instead of the usual four). This may be seen as part of holoprosencephaly." [HPO:curators] xref: UMLS:C0006104 xref: UMLS:C0007799 xref: UMLS:C0037179 xref: UMLS:C0087136 xref: UMLS:C0152424 xref: UMLS:C0205171 xref: UMLS:C1269537 is_a: HP:0002118 ! Abnormality of the cerebral ventricles created_by: peter creation_date: 2009-02-17T11:08:04Z [Term] id: HP:0009808 name: Abnormality involving the diaphyses of the upper limbs namespace: medical_genetics alt_id: HP:0003857 synonym: "Diaphyseal abnormality of the upper limbs" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0242696 xref: UMLS:C1140618 xref: UMLS:C1314939 xref: UMLS:C1704258 is_a: HP:0002817 ! Abnormality of the upper limb created_by: doelkens creation_date: 2009-02-23T04:55:36Z [Term] id: HP:0009809 name: Abnormality involving the metaphyses of the upper limbs namespace: medical_genetics alt_id: HP:0003847 synonym: "Metaphyseal abnormality of the upper limbs" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0222671 xref: UMLS:C1140618 xref: UMLS:C1314939 xref: UMLS:C1704258 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 the joints of the upper limbs namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0022417 xref: UMLS:C0392905 xref: UMLS:C1140618 xref: UMLS:C1704258 is_a: HP:0001367 ! Abnormality of the joints 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 namespace: medical_genetics alt_id: HP:0002966 synonym: "Abnormality of the elbows" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C1305417 xref: UMLS:C1704258 is_a: HP:0009810 ! Abnormality of the joints of the upper limbs created_by: doelkens creation_date: 2009-02-23T04:59:43Z [Term] id: HP:0009812 name: Amelia involving the upper limbs namespace: medical_genetics def: "`Amelia` (HP:0009827) of one or both upper limbs." [HPO:curators] xref: UMLS:C0002447 xref: UMLS:C1140618 xref: UMLS:C1314939 is_a: HP:0006496 ! Aplasia/Hypoplasia involving bones of the upper limbs is_a: HP:0009827 ! Amelia created_by: doelkens creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009813 name: Phocomelia involving the upper limbs namespace: medical_genetics 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:curators] xref: UMLS:C0031575 xref: UMLS:C1140618 xref: UMLS:C1314939 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: Peromelia involving the upper limbs namespace: medical_genetics def: "`Peromelia` (HP:0009828) affecting only the upper limbs." [HPO:sdoelken] xref: UMLS:C1140618 xref: UMLS:C1314939 is_a: HP:0006496 ! Aplasia/Hypoplasia involving bones of the upper limbs is_a: HP:0009828 ! Peromelia created_by: doelkens creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009815 name: Aplasia/Hypoplasia of the extremities namespace: medical_genetics alt_id: HP:0002969 alt_id: HP:0006497 def: "Absence or underdevelopment of the extremities." [HPO:curators] synonym: "Aplasia/Hypoplasia involving bones of the extremities" EXACT [] synonym: "Short or absent limbs" EXACT [] synonym: "Shortened limbs" EXACT [] xref: UMLS:C0015385 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0262950 xref: UMLS:C0334079 xref: UMLS:C0541755 xref: UMLS:C0543481 xref: UMLS:C1266909 xref: UMLS:C1314939 xref: UMLS:C1806781 xref: UMLS:C1855208 xref: UMLS:C2350002 is_a: HP:0002813 ! Abnormality of the extremities is_a: HP:0009115 ! Aplasia/Hypoplasia involving the skeleton created_by: doelkens creation_date: 2009-02-23T05:06:40Z [Term] id: HP:0009816 name: Hypoplasia involving bones of the lower limbs namespace: medical_genetics alt_id: HP:0003087 alt_id: HP:0005884 alt_id: HP:0006399 synonym: "Hypoplasia of the lower limbs" EXACT [] synonym: "Hypoplastic legs" EXACT [] synonym: "Short legs" EXACT [] xref: UMLS:C0023216 xref: UMLS:C0243069 xref: UMLS:C0262950 xref: UMLS:C0426901 xref: UMLS:C0543481 xref: UMLS:C1140621 xref: UMLS:C1266909 xref: UMLS:C1314939 is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs is_a: HP:0009826 ! Hypoplasia involving bones of the extremities created_by: doelkens creation_date: 2009-02-23T05:09:32Z [Term] id: HP:0009817 name: Aplasia involving bones of the lower limbs namespace: medical_genetics xref: UMLS:C0023216 xref: UMLS:C0243065 xref: UMLS:C0262950 xref: UMLS:C0334079 xref: UMLS:C1266909 xref: UMLS:C1314939 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 namespace: medical_genetics def: "`Amelia` (HP:0009827) of one or both legs." [HPO:curators] xref: UMLS:C0002447 xref: UMLS:C0023216 xref: UMLS:C1314939 is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs is_a: HP:0009827 ! Amelia created_by: doelkens creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009819 name: Phocomelia involving the lower limbs namespace: medical_genetics xref: UMLS:C0023216 xref: UMLS:C0031575 xref: UMLS:C1314939 is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs is_a: HP:0009829 ! Phocomelia created_by: doelkens creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009820 name: Peromelia involving the lower limbs namespace: medical_genetics def: "`Peromelia` HP:0009828) affecting only the lower limbs." [HPO:sdoelken] xref: UMLS:C0023216 xref: UMLS:C1314939 is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet is_a: HP:0009828 ! Peromelia created_by: doelkens creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009821 name: Hypoplasia involving forearm bones namespace: medical_genetics alt_id: HP:0003024 alt_id: HP:0003968 alt_id: HP:0006405 synonym: "Short forearm bones" EXACT [] synonym: "Short forearms" EXACT [] synonym: "Shortened forearm" EXACT [] xref: UMLS:C0223680 xref: UMLS:C0243069 xref: UMLS:C0262950 xref: UMLS:C0543481 xref: UMLS:C1266909 xref: UMLS:C1314939 xref: UMLS:C1806781 xref: UMLS:C1848661 xref: UMLS:C1855299 xref: UMLS:C2350002 is_a: HP:0006503 ! Aplasia/Hypoplasia involving forearm bones created_by: doelkens creation_date: 2009-02-23T05:11:42Z [Term] id: HP:0009822 name: Aplasia involving forearm bones namespace: medical_genetics xref: UMLS:C0223680 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0243065 xref: UMLS:C0262950 xref: UMLS:C0334079 xref: UMLS:C1140618 xref: UMLS:C1266909 xref: UMLS:C1314939 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: Hypoplasia involving bones of the upper limbs namespace: medical_genetics alt_id: HP:0003056 alt_id: HP:0006364 synonym: "Short arms" EXACT [] synonym: "Shortening of the arms" EXACT [] xref: UMLS:C0243069 xref: UMLS:C0262950 xref: UMLS:C0426857 xref: UMLS:C0441636 xref: UMLS:C0446516 xref: UMLS:C0543481 xref: UMLS:C1140618 xref: UMLS:C1266909 xref: UMLS:C1314939 is_a: HP:0006496 ! Aplasia/Hypoplasia involving bones of the upper limbs is_a: HP:0009826 ! Hypoplasia involving bones of the extremities created_by: doelkens creation_date: 2009-02-23T05:13:20Z [Term] id: HP:0009825 name: Aplasia involving bones of the extremities namespace: medical_genetics xref: UMLS:C0015385 xref: UMLS:C0243065 xref: UMLS:C0262950 xref: UMLS:C0334079 xref: UMLS:C1266909 xref: UMLS:C1314939 is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:16:44Z [Term] id: HP:0009826 name: Hypoplasia involving bones of the extremities namespace: medical_genetics alt_id: HP:0003058 synonym: "Limb shortening" EXACT [] synonym: "Short limbs" EXACT [] xref: UMLS:C0015385 xref: UMLS:C0239399 xref: UMLS:C0243069 xref: UMLS:C0262950 xref: UMLS:C0543481 xref: UMLS:C1266909 xref: UMLS:C1314939 xref: UMLS:C1849181 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 namespace: medical_genetics def: "Congenital absence (aplasis) of one or more limbs." [HPO:sdoelken] xref: UMLS:C0002447 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 namespace: medical_genetics def: "The distal parts of the limbs are missing leading to a stump formation." [HPO:curators] 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 namespace: medical_genetics 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:curators] xref: UMLS:C0031575 is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:17:25Z [Term] id: HP:0009830 name: Peripheral neuropathy namespace: medical_genetics 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:curators] xref: UMLS:C0031117 is_a: HP:0000759 ! Abnormality of the peripheral nervous system created_by: peter creation_date: 2009-03-01T07:49:18Z [Term] id: HP:0009831 name: Mononeuropathy namespace: medical_genetics 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:curators] xref: UMLS:C0494491 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 phalanges of the hand namespace: medical_genetics alt_id: HP:0005919 synonym: "Abnormal terminal phalanges of the hand" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0018563 xref: UMLS:C0205088 xref: UMLS:C0205161 xref: UMLS:C0223792 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704258 xref: UMLS:C1705314 xref: UMLS:C1705315 xref: UMLS:C2347472 is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009833 name: Abnormality of the middle phalanges of the hand namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0018563 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704258 is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009834 name: Abnormality of the proximal phalanges of the hand namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0018563 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704258 is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009835 name: Aplasia/Hypoplasia of the distal phalanges of the hand namespace: medical_genetics 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 [] xref: UMLS:C0018563 xref: UMLS:C0205088 xref: UMLS:C0205108 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1705314 xref: UMLS:C1705315 xref: UMLS:C1866004 is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009836 name: Broad distal phalanges of the hand namespace: medical_genetics alt_id: HP:0003120 alt_id: HP:0006113 alt_id: HP:0006197 alt_id: HP:0009859 def: "Abnormally wide (broad) distal phalanges of the fingers." [HPO:curators] synonym: "Broad distal phalanges" EXACT [] synonym: "Broad distal phalanx" EXACT [] synonym: "Broad terminal phalanges" EXACT [] synonym: "Spatulate terminal phalanges" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0183380 xref: UMLS:C0205088 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1705314 xref: UMLS:C1705315 xref: UMLS:C1842230 xref: UMLS:C1850630 is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009837 name: Bullet-shaped distal phalanges of the hand namespace: medical_genetics alt_id: HP:0009860 xref: UMLS:C0018563 xref: UMLS:C0205108 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1706207 is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009838 name: Curved distal phalanges of the hand namespace: medical_genetics alt_id: HP:0009862 xref: UMLS:C0018563 xref: UMLS:C0205108 xref: UMLS:C0205134 xref: UMLS:C0223792 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009839 name: Osteolytic defects of the distal phalanges of the hand namespace: medical_genetics alt_id: HP:0001219 alt_id: HP:0009865 synonym: "Acro-osteolysis of distal phalanges" EXACT [] synonym: "Acroosteolysis of distal phalanges" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0243067 xref: UMLS:C0576464 xref: UMLS:C0917990 xref: UMLS:C1281583 xref: UMLS:C1518633 xref: UMLS:C1552914 is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009840 name: Patchy sclerosis of the distal phalanges of the hand namespace: medical_genetics alt_id: HP:0009868 def: "Patchy increase in bone density of the distal phalanges of the hand." [HPO:curators] synonym: "Patchy sclerosis of the distal phalanges of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009843 name: Aplasia/Hypoplasia of the middle phalanges of the hand namespace: medical_genetics 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 [] xref: UMLS:C0018563 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1806781 xref: UMLS:C1839317 xref: UMLS:C1862098 xref: UMLS:C2350002 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 phalanges of the hand namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0444598 xref: UMLS:C1281583 xref: UMLS:C1552826 xref: UMLS:C1552914 xref: UMLS:C1842230 is_a: HP:0009768 ! Broad 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:0009845 name: Bullet-shaped middle phalanges of the hand namespace: medical_genetics alt_id: HP:0006038 synonym: "Bullet-shaped middle phalanges of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1706207 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 namespace: medical_genetics alt_id: HP:0009863 synonym: "Curved middle phalanges of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0205134 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics alt_id: HP:0009866 synonym: "Osteolytic defects of the middle phalanges of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0243067 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1518633 xref: UMLS:C1552914 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 the middle phalanges of the hand namespace: medical_genetics alt_id: HP:0009870 def: "Patchy increase in bone density of the middle phalanges of the hand." [HPO:curators] xref: UMLS:C0018563 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0009772 ! Patchy sclerosis 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:0009849 name: Symphalangism affecting the middle phalanges of the hand namespace: medical_genetics alt_id: HP:0009872 xref: UMLS:C0018563 xref: UMLS:C0039075 xref: UMLS:C0392760 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1314939 xref: UMLS:C1552914 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 namespace: medical_genetics alt_id: HP:0009876 synonym: "Triangular shaped middle phalanges of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0205119 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0205107 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1842230 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 namespace: medical_genetics alt_id: HP:0009861 synonym: "Bullet-shaped proximal phalanges of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0205107 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1706207 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 namespace: medical_genetics alt_id: HP:0009864 synonym: "Curved proximal phalanges of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0205107 xref: UMLS:C0205134 xref: UMLS:C0223792 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics alt_id: HP:0006050 alt_id: HP:0009867 synonym: "Osteolytic defects of the proximal phalanges of the hand" EXACT [] synonym: "Proximal phalanges osteolysis" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0243067 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1518633 xref: UMLS:C1552914 xref: UMLS:C1850148 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 the proximal phalanges of the hand namespace: medical_genetics alt_id: HP:0009869 def: "Patchy increase in bone density of the proximal phalanges of the hand." [HPO:curators] synonym: "Patchy sclerosis of the proximal phalanges of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0009772 ! Patchy sclerosis 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:0009857 name: Symphalangism affecting the proximal phalanges of the hand namespace: medical_genetics alt_id: HP:0009873 synonym: "Symphalangism affecting the proximal phalanges of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0039075 xref: UMLS:C0392760 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1314939 xref: UMLS:C1552914 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 namespace: medical_genetics alt_id: HP:0009877 synonym: "Triangular shaped proximal phalanges of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0205107 xref: UMLS:C0205119 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics alt_id: HP:0006061 alt_id: HP:0009842 synonym: "Triangular shaped distal phalanges" EXACT [] synonym: "Triangular shaped distal phalanges of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1968591 is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T01:53:07Z [Term] id: HP:0009878 name: Cerebellar ataxia associated with quadrupedal gait namespace: medical_genetics 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] xref: UMLS:C0007758 xref: UMLS:C0016928 xref: UMLS:C0332281 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 namespace: medical_genetics def: "An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex." [HPO:curators] xref: UMLS:C0001613 xref: UMLS:C0007776 xref: UMLS:C0022655 is_a: HP:0002536 ! Abnormal cortical gyration creation_date: 2009-03-28T06:23:59Z [Term] id: HP:0009880 name: Broad distal phalanges of fingers and toes namespace: medical_genetics alt_id: HP:0005816 synonym: "Broad terminal phalanges of fingers and toes" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0040357 xref: UMLS:C0205088 xref: UMLS:C0549188 xref: UMLS:C1705314 xref: UMLS:C1705315 xref: UMLS:C1842230 xref: UMLS:C1850630 is_a: HP:0009836 ! Broad distal phalanges of the hand created_by: doelkens creation_date: 2009-04-24T04:18:59Z [Term] id: HP:0009881 name: Aplasia of the distal phalanges of the hand namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 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: Hypoplasia of the distal phalanges of the hand namespace: medical_genetics alt_id: HP:0001198 alt_id: HP:0001202 alt_id: HP:0001229 alt_id: HP:0006075 alt_id: HP:0006132 alt_id: HP:0006223 alt_id: HP:0010279 synonym: "Brachytelophalangy" EXACT [] synonym: "Distal phalangeal hypoplasia" EXACT [] synonym: "Hypoplasia of the distal phalanges" EXACT [] synonym: "Hypoplasic terminal phalanges" EXACT [] synonym: "Hypoplastic distal phalanges" EXACT [] synonym: "Hypoplastic terminal phalanges" EXACT [] synonym: "Narrowed distal phalanges" EXACT [] synonym: "Short distal phalanges" EXACT [] synonym: "Terminal phalangeal hypoplasia of hand" EXACT [] synonym: "Variable shortening of terminal phalanges" EXACT [] synonym: "Very short distal phalanges" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0205088 xref: UMLS:C0205108 xref: UMLS:C0223792 xref: UMLS:C0243069 xref: UMLS:C0333164 xref: UMLS:C0439828 xref: UMLS:C0441636 xref: UMLS:C0442824 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C0877165 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1705098 xref: UMLS:C1705314 xref: UMLS:C1705315 xref: UMLS:C1837681 xref: UMLS:C1839284 xref: UMLS:C1839829 xref: UMLS:C1866004 is_a: HP:0009381 ! Hypoplastic/small fingers is_a: HP:0009803 ! Hypoplastic/small 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:0009883 name: Partial/complete duplication of the distal phalanges of the hand namespace: medical_genetics 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:curators] synonym: "Bifid terminal phalanges" EXACT [] synonym: "Partial/complete duplication of the distal phalanges of the hand" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1281583 xref: UMLS:C1550516 xref: UMLS:C1552914 xref: UMLS:C1705960 xref: UMLS:C1849343 is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand is_a: HP:0009997 ! Partial/complete duplication of phalanges of the hand created_by: doelkens creation_date: 2009-04-24T04:33:55Z [Term] id: HP:0009884 name: Tapered distal phalanges of the hand namespace: medical_genetics alt_id: HP:0006052 synonym: "Tapered distal phalanges" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0205108 xref: UMLS:C0223792 xref: UMLS:C0441640 xref: UMLS:C1281583 xref: UMLS:C1548969 xref: UMLS:C1552914 is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-04-24T04:40:31Z [Term] id: HP:0009885 name: Prenatal short stature namespace: medical_genetics def: "Short stature with prenatal onset." [HPO:curators] xref: UMLS:C0033052 xref: UMLS:C0349588 xref: UMLS:C0678804 is_obsolete: true creation_date: 2009-04-30T05:29:10Z [Term] id: HP:0009886 name: Trichorrhexis nodosa namespace: medical_genetics 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 is_a: HP:0010719 ! Abnormality of hair texture created_by: peter creation_date: 2009-04-30T05:51:57Z [Term] id: HP:0009887 name: Abnormality of hair pigmentation namespace: medical_genetics def: "An abnormality of hair pigmentation (color)." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0018494 xref: UMLS:C0031911 xref: UMLS:C0444095 xref: UMLS:C1546660 xref: UMLS:C1704258 is_a: HP:0001595 ! Abnormality of the hair is_a: HP:0200045 ! Abnormality of pigmentation created_by: peter creation_date: 2009-04-30T06:00:53Z [Term] id: HP:0009888 name: Abnormality of secondary sexual hair namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0018494 xref: UMLS:C0036864 xref: UMLS:C0175668 xref: UMLS:C0205436 xref: UMLS:C0444095 xref: UMLS:C1522484 xref: UMLS:C1546660 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Abnormally increased hair growth with a localized distribution." [HPO:curators] xref: UMLS:C0019572 xref: UMLS:C0392752 is_a: HP:0001007 ! Hirsutism created_by: peter creation_date: 2009-04-30T06:29:20Z [Term] id: HP:0009890 name: High anterior hairline namespace: medical_genetics 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. synonym: "High frontal hairline" EXACT [] xref: UMLS:C0205123 xref: UMLS:C2030909 is_a: HP:0000599 ! Abnormality of the frontal hairline created_by: peter creation_date: 2009-04-30T06:34:27Z [Term] id: HP:0009891 name: Hypoplasia of the supraorbital ridges namespace: medical_genetics def: "Underdevelopment of the supraorbital ridges." [HPO:curators] xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1947915 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 namespace: medical_genetics def: "Complete absence of the auricle (external ear). The skin of the cheek passes smoothly over the aural area without definite elevation or depression." [HPO:curators] xref: UMLS:C0702139 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 namespace: medical_genetics def: "The presence of `telangiectasia` (MPATH:476) of the `ear` (FMA:52780)." [HPO:probinson] xref: UMLS:C0013443 xref: UMLS:C0039446 xref: UMLS:C0521421 xref: UMLS:C1414437 is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0100585 ! Teleangiectasia of the skin created_by: peter creation_date: 2009-04-30T10:07:39Z [Term] id: HP:0009894 name: Thickened ears namespace: medical_genetics xref: UMLS:C0013443 xref: UMLS:C0205400 xref: UMLS:C0521421 xref: UMLS:C1414437 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 namespace: medical_genetics 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 [] xref: UMLS:C0000768 xref: UMLS:C0013443 xref: UMLS:C0521421 xref: UMLS:C1140621 xref: UMLS:C1704258 is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2009-04-30T10:32:41Z [Term] id: HP:0009896 name: Abnormality of the antitragus namespace: medical_genetics def: "An abnormality of the antitrgus, which is a small tubercle opposite to the tragus of the ear. The antitragus and the tragus are separated by the intertragic notch." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0229314 xref: UMLS:C1704258 is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2009-04-30T10:13:21Z [Term] id: HP:0009897 name: Horizontal orientation of the ear crus namespace: medical_genetics def: "An abnormal `horizontal` (PATO:0001855) axis orientation of the `crus of the helix (FMA:61024)." [HPO:probinson] xref: UMLS:C0013443 xref: UMLS:C0029266 xref: UMLS:C0205126 xref: UMLS:C0521421 xref: UMLS:C1140621 xref: UMLS:C1704322 is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2009-04-30T10:34:52Z [Term] id: HP:0009898 name: Hypoplasia of the crus of the ear namespace: medical_genetics def: "Developmental hypoplasia of the `crus of the helix (FMA:61024)." [HPO:probinson] xref: UMLS:C0013443 xref: UMLS:C0243069 xref: UMLS:C0521421 xref: UMLS:C0543481 xref: UMLS:C1140621 is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2009-04-30T10:36:43Z [Term] id: HP:0009899 name: Abnormal prominence of the crus of the ear namespace: medical_genetics def: "The presence of an abnormally `prominent` (PATO:0001482) of the `crus of the helix (FMA:61024)." [HPO:probinson] xref: UMLS:C0013443 xref: UMLS:C0205161 xref: UMLS:C0205402 xref: UMLS:C0521421 xref: UMLS:C1140621 xref: UMLS:C2347472 is_a: HP:0009895 ! Abnormality of the crus of the helix created_by: peter creation_date: 2009-04-30T10:38:06Z [Term] id: HP:0009900 name: Unilateral deafness namespace: medical_genetics def: "A `unilateral` (PATO:0000634) `absence` (PATO:0000462) of `sensory perception of sound` (GO:0007605)." [HPO:probinson] comment: Deafness affecting only one ear. synonym: "Deafness, unilateral" EXACT [] xref: UMLS:C0011053 xref: UMLS:C0205092 xref: UMLS:C0581883 is_a: HP:0000404 ! Deafness created_by: peter creation_date: 2009-04-30T10:42:23Z [Term] id: HP:0009901 name: Crumpled ear helices namespace: medical_genetics xref: UMLS:C0013443 xref: UMLS:C0018882 xref: UMLS:C0229304 xref: UMLS:C0521421 xref: UMLS:C1704821 xref: UMLS:C1705682 is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2009-04-30T10:50:28Z [Term] id: HP:0009902 name: Notching of the ear helix namespace: medical_genetics def: "A `notched` (PATO:0001495) form of the `helix` (FMA:60992) of the ear." [HPO:probinson] xref: UMLS:C0013443 xref: UMLS:C0018882 xref: UMLS:C0205316 xref: UMLS:C0229304 xref: UMLS:C0521421 xref: UMLS:C1235660 xref: UMLS:C1704821 xref: UMLS:C1705682 is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2009-04-30T10:52:45Z [Term] id: HP:0009903 name: Conjunctival nodules namespace: medical_genetics def: "Presence of nodules in the conjunctiva of the eye." [HPO:curators] xref: UMLS:C1996949 is_a: HP:0000502 ! Abnormality of the conjunctiva created_by: peter creation_date: 2009-05-02T05:04:15Z [Term] id: HP:0009904 name: Prominent ear helix namespace: medical_genetics def: "Abnormally prominent ear helix." [HPO:curators] xref: UMLS:C0018882 xref: UMLS:C0229304 xref: UMLS:C1305420 xref: UMLS:C1704821 xref: UMLS:C1705682 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 namespace: medical_genetics def: "`Decreased thickness` (PATO:0000592) of the`helix` (FMA:60992) of the ear." [HPO:curators] xref: UMLS:C0013443 xref: UMLS:C0018882 xref: UMLS:C0205168 xref: UMLS:C0229304 xref: UMLS:C0521421 xref: UMLS:C1704821 xref: UMLS:C1705682 is_a: HP:0011039 ! Abnormality of the helix created_by: peter creation_date: 2009-05-01T02:50:35Z [Term] id: HP:0009906 name: Aplasia/Hypoplasia of the earlobes namespace: medical_genetics def: "Absence or underdevelopment of the ear lobes." [HPO:curators] xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 is_a: HP:0000363 ! Abnormality of ear lobes created_by: peter creation_date: 2009-05-01T02:55:12Z [Term] id: HP:0009907 name: Adherent earlobe namespace: medical_genetics def: "Attached ear lobes." [HPO:curators] xref: UMLS:C0334154 is_a: HP:0000363 ! Abnormality of ear lobes created_by: peter creation_date: 2009-05-01T02:57:50Z [Term] id: HP:0009908 name: Earlobe crease namespace: medical_genetics def: "The presence of a crease in the ear lobe." [HPO:curators] xref: UMLS:C1851897 is_a: HP:0000363 ! Abnormality of ear lobes created_by: peter creation_date: 2009-05-01T03:00:22Z [Term] id: HP:0009909 name: Uplifted earlobes namespace: medical_genetics def: "An abnormal orientation of the earlobes such that they point out- and upward." [HPO:curators] is_a: HP:0000363 ! Abnormality of ear lobes created_by: peter creation_date: 2009-05-01T03:02:07Z [Term] id: HP:0009910 name: Aplasia of the middle ear ossicles namespace: medical_genetics def: "Absence of the middle ear ossicles." [HPO:curators] xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C2087668 is_a: HP:0004452 ! Abnormality of the middle ear ossicles created_by: peter creation_date: 2009-05-01T03:26:53Z [Term] id: HP:0009911 name: Abnormality of the temporal bone namespace: medical_genetics 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:curators] xref: UMLS:C0000768 xref: UMLS:C0039484 xref: UMLS:C1279054 xref: UMLS:C1704258 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 namespace: medical_genetics def: "An abnormality of the `tragus` (FMA:60998)." [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. xref: UMLS:C0000768 xref: UMLS:C0229312 xref: UMLS:C1000996 xref: UMLS:C1704258 is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2009-05-01T03:39:56Z [Term] id: HP:0009913 name: Aplasia/Hypoplasia of the tragus namespace: medical_genetics def: "`Aplasia` (MPATH:58) or developmental hypoplasia of the tragus." [HPO:probinson] xref: UMLS:C0229312 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1000996 is_a: HP:0009912 ! Abnormality of the tragus created_by: peter creation_date: 2009-05-01T03:43:12Z [Term] id: HP:0009914 name: Cyclopia namespace: medical_genetics def: "Cyclopia is a congenital abnormality in which there is only one eye. That eye is centrally placed in the area normally occupied by the root of the nose." [HPO:curators] xref: UMLS:C0266667 xref: UMLS:C1085086 is_a: HP:0000489 ! Abnormality of globe location or size created_by: peter creation_date: 2009-05-01T03:52:15Z [Term] id: HP:0009915 name: Asymmetry of the corneas namespace: medical_genetics def: "The presence of a size difference between the left and right cornea." [HPO:curators] xref: UMLS:C0010031 xref: UMLS:C0332514 is_a: HP:0001120 ! Abnormality of corneal size or shape created_by: peter creation_date: 2009-05-02T05:06:20Z [Term] id: HP:0009916 name: Anisocoria namespace: medical_genetics def: "Anisocoria, or unequal pupil size, may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria can reflect an abnormality of the musculature of the iris or of the sympathetic or prasympathetic innervation of the iris." [HPO:curators] synonym: "Asymmetry of the pupils" EXACT [] xref: UMLS:C0003079 xref: UMLS:C0034121 xref: UMLS:C0332514 xref: UMLS:C2228476 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 namespace: medical_genetics def: "The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil." [HPO:curators] 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 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 namespace: medical_genetics def: "A malposition of the `pupil` (FMA:58252) owing to a developmental defect of the iris." [HPO:probinson] xref: UMLS:C0271135 xref: UMLS:C1271219 is_a: HP:0000615 ! Abnormality of the pupil created_by: peter creation_date: 2009-05-02T06:01:01Z [Term] id: HP:0009919 name: Retinoblastoma namespace: medical_genetics def: "A tumor of the eye originating from cells of the retina." [HPO:curators] xref: UMLS:C0035335 xref: UMLS:C0694889 is_a: HP:0100012 ! Neoplasia of the eye created_by: peter creation_date: 2009-05-02T06:23:25Z [Term] id: HP:0009920 name: Nevus of Ota namespace: medical_genetics 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] xref: UMLS:C0027960 xref: UMLS:C0027962 xref: UMLS:C0069299 is_a: HP:0003764 ! Abnormal or excess nevi created_by: peter creation_date: 2009-05-02T06:26:59Z [Term] id: HP:0009921 name: Duane anomaly namespace: medical_genetics 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:curators] xref: UMLS:C0013261 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 namespace: medical_genetics 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] xref: UMLS:C0229097 xref: UMLS:C0546816 xref: UMLS:C1281761 is_a: HP:0004327 ! Abnormality of the vitreous humor created_by: peter creation_date: 2009-05-02T06:43:07Z [Term] id: HP:0009923 name: Lateral thinning of eyebrows namespace: medical_genetics def: "Abnormal sparseness of the eyebrows laterally." [HPO:sdoelken] synonym: "Lateral hypoplasia of eyebrows " EXACT [] xref: UMLS:C0015420 xref: UMLS:C0205093 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0000534 ! Abnormality of the eyebrow created_by: peter creation_date: 2009-05-02T10:31:17Z [Term] id: HP:0009924 name: Aplasia/Hypoplasia involving the nose namespace: medical_genetics def: "Underdevelopment or absence of the nose or parts thereof." [HPO:curators] xref: UMLS:C0028429 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1278896 xref: UMLS:C1314939 is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2009-05-05T06:44:04Z [Term] id: HP:0009925 name: Aplasia of the eyelids namespace: medical_genetics def: "Absence of the eyelids." [HPO:curators] xref: UMLS:C0015426 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C2228440 is_a: HP:0000492 ! Abnormality of the eyelid created_by: peter creation_date: 2009-05-02T10:40:22Z [Term] id: HP:0009926 name: Increased tear production namespace: medical_genetics def: "Abnormally in creased lacrimation." [HPO:curators] xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C2363241 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 namespace: medical_genetics def: "Complete absence of the nose." [HPO:curators] xref: UMLS:C0028429 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1278896 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 namespace: medical_genetics def: "Increase in bulk of the ala nasi." [pmid:19152422] synonym: "Ala nasi, thick" EXACT [] synonym: "Thickening of the alae nasi" EXACT [] xref: UMLS:C0205400 xref: UMLS:C0458563 xref: UMLS:C1280412 xref: UMLS:C1283890 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 namespace: medical_genetics def: "An abnormality of the `columella` (FMA:59725)." [HPO:curators] comment: The columella is the fleshy external end of the nasal septum. xref: UMLS:C0000768 xref: UMLS:C0225431 xref: UMLS:C1504610 xref: UMLS:C1522549 xref: UMLS:C1704258 xref: UMLS:C1820372 is_a: HP:0010938 ! Abnormality of the external nose created_by: peter creation_date: 2009-05-05T06:51:28Z [Term] id: HP:0009930 name: Asymmetry of the nares namespace: medical_genetics def: "Asymmetry or size difference between the left and right nostril." [HPO:curators] xref: UMLS:C0332514 xref: UMLS:C0595944 xref: UMLS:C1456808 is_a: HP:0005288 ! Abnormality of the nares created_by: peter creation_date: 2009-05-05T07:06:20Z [Term] id: HP:0009931 name: Naris, enlarged namespace: medical_genetics def: "Increased aperture of the `nostril` (FMA:59645)." [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. synonym: "Increased width of nares" EXACT [] synonym: "Naris, broad" EXACT [] xref: UMLS:C0205217 xref: UMLS:C0332464 xref: UMLS:C0442800 xref: UMLS:C0442805 xref: UMLS:C0487742 xref: UMLS:C0595944 xref: UMLS:C1280896 xref: UMLS:C1293134 xref: UMLS:C1456808 is_a: HP:0005288 ! Abnormality of the nares creation_date: 2009-05-10T10:30:20Z [Term] id: HP:0009932 name: Single nostril namespace: medical_genetics def: "The presence of only a single `nostril` (FMA:59645)." [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. xref: UMLS:C0685682 is_a: HP:0100597 ! Aplasia/Hypoplasia of the nares created_by: peter creation_date: 2009-05-10T10:33:56Z [Term] id: HP:0009933 name: Naris, narrow namespace: medical_genetics def: "Slender, slit-like aperture of the `nostril` (FMA:59645)." [HPO:curators] synonym: "Naris, slit-like" EXACT [] synonym: "Thin nares" EXACT [] xref: UMLS:C0205356 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C0595944 xref: UMLS:C1280896 xref: UMLS:C1456808 xref: UMLS:C1849366 is_a: HP:0005288 ! Abnormality of the nares created_by: peter creation_date: 2009-05-10T10:35:51Z [Term] id: HP:0009934 name: Supernumerary nostrils namespace: medical_genetics def: "The presence of more than two nostrils." [pmid:19152422] xref: UMLS:C0595944 xref: UMLS:C1883702 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 namespace: medical_genetics def: "Absence or underdevelopment of the nasal septum." [HPO:curators] xref: UMLS:C0027432 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1268974 xref: UMLS:C2077309 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 namespace: medical_genetics def: "Abnormally narrow nasal septum." [HPO:curators] xref: UMLS:C0027432 xref: UMLS:C0332463 xref: UMLS:C0333164 xref: UMLS:C1268974 xref: UMLS:C2077309 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 namespace: medical_genetics def: "Excess facial hair." [HPO:curators] xref: UMLS:C1850041 is_a: HP:0009889 ! Localized hirsutism created_by: peter creation_date: 2009-05-10T10:58:49Z [Term] id: HP:0009938 name: Sunken cheeks namespace: medical_genetics xref: UMLS:C0007966 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 namespace: medical_genetics def: "Absence of the mandible." [HPO:curators] xref: UMLS:C0024687 xref: UMLS:C0243065 xref: UMLS:C0334079 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 namespace: medical_genetics xref: UMLS:C0024687 xref: UMLS:C0332514 xref: UMLS:C1279059 xref: UMLS:C2239125 is_a: HP:0000277 ! Abnormality of the mandible created_by: peter creation_date: 2009-05-10T11:28:02Z [Term] id: HP:0009941 name: Asymmetry of the mouth namespace: medical_genetics def: "The presence of an `asymmetric` (PATO:0000616) `mouth` (FMA:49184)." [HPO:probinson] xref: UMLS:C0226896 xref: UMLS:C0230028 xref: UMLS:C0332514 xref: UMLS:C1267547 xref: UMLS:C1278910 is_a: HP:0000153 ! Abnormality of the mouth created_by: peter creation_date: 2009-05-10T11:30:31Z [Term] id: HP:0009942 name: Partial/complete duplication of phalanges of the thumb namespace: medical_genetics 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 [] xref: UMLS:C0040067 xref: UMLS:C0205197 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1269613 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0001177 ! Preaxial polydactyly (hands) is_a: HP:0009602 ! Abnormality of the phalanges of the thumb is_a: HP:0009997 ! Partial/complete duplication of phalanges of the hand created_by: doelkens creation_date: 2009-05-15T12:51:02Z [Term] id: HP:0009943 name: Complete duplication of the phalanges of the thumb namespace: medical_genetics 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:curators] synonym: "Digitalization of thumb" EXACT [] synonym: "Digitalization of thumbs" EXACT [] synonym: "Duplicated thumb" EXACT [] synonym: "Duplication of thumb phalanges" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0205197 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0554831 xref: UMLS:C0560733 xref: UMLS:C0725685 xref: UMLS:C1269613 xref: UMLS:C1705960 is_a: HP:0009942 ! Partial/complete duplication of phalanges of the thumb is_a: HP:0009998 ! Complete duplication of the phalanges of the hand created_by: doelkens creation_date: 2009-05-15T12:51:35Z [Term] id: HP:0009944 name: Partial duplication of the phalanges of the thumb namespace: medical_genetics 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:curators] synonym: "Bifid thumb" EXACT [] synonym: "Notching of thumb phalanges" EXACT [] xref: UMLS:C0040067 xref: UMLS:C0205316 xref: UMLS:C0223792 xref: UMLS:C0265608 xref: UMLS:C0332597 xref: UMLS:C0560733 xref: UMLS:C0728938 xref: UMLS:C1235660 xref: UMLS:C1269613 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009942 ! Partial/complete duplication of phalanges of the thumb is_a: HP:0009999 ! Partial duplication of the phalanges of the hand created_by: doelkens creation_date: 2009-05-15T12:51:57Z [Term] id: HP:0009945 name: Partial/complete duplication of phalanges of the 2nd finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 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 ! Partial/complete duplication of phalanges of the hand created_by: doelkens creation_date: 2009-05-15T01:00:37Z [Term] id: HP:0009946 name: Polydactyly affecting the 2nd finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0152427 xref: UMLS:C0205436 xref: UMLS:C0392760 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 xref: UMLS:C2117329 is_a: HP:0004100 ! Abnormality of the 2nd finger is_a: HP:0006159 ! Central polydactyly (hands) created_by: doelkens creation_date: 2009-05-15T01:01:48Z [Term] id: HP:0009947 name: Partial/complete duplication of the proximal phalanx of the 2nd finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009945 ! Partial/complete duplication of phalanges of the 2nd finger is_a: HP:0010006 ! Partial/complete duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-15T01:58:58Z [Term] id: HP:0009948 name: Partial/complete duplication of the distal phalanx of the 2nd finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009883 ! Partial/complete duplication of the distal phalanges of the hand is_a: HP:0009945 ! Partial/complete duplication of phalanges of the 2nd finger created_by: doelkens creation_date: 2009-05-15T01:58:58Z [Term] id: HP:0009949 name: Partial/complete duplication of the middle phalanx of the 2nd finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009945 ! Partial/complete duplication of phalanges of the 2nd finger is_a: HP:0010008 ! Partial/complete duplication of the middle phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009948 ! Partial/complete 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 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 namespace: medical_genetics def: "A partial duplication of the distal phalanx of the index finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009948 ! Partial/complete 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 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009949 ! Partial/complete 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 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 namespace: medical_genetics def: "A partial duplication of the middle phalanx of the index finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009949 ! Partial/complete 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 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009947 ! Partial/complete 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 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 namespace: medical_genetics def: "A partial duplication of the proximal phalanx of the index finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009947 ! Partial/complete 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 created_by: doelkens creation_date: 2009-05-15T02:06:11Z [Term] id: HP:0009956 name: Partial duplication of the phalanges of the 2nd finger namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009945 ! Partial/complete duplication of phalanges of the 2nd finger is_a: HP:0009999 ! Partial duplication of the phalanges of the 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009945 ! Partial/complete duplication of phalanges of the 2nd finger is_a: HP:0009998 ! Complete duplication of the phalanges of the hand created_by: doelkens creation_date: 2009-05-15T02:08:02Z [Term] id: HP:0009958 name: Polydactyly affecting the 3rd finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0152427 xref: UMLS:C0205437 xref: UMLS:C0392760 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 xref: UMLS:C2117329 is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0006159 ! Central polydactyly (hands) created_by: doelkens creation_date: 2009-05-26T09:54:29Z [Term] id: HP:0009959 name: Partial/complete duplication of phalanges of the 3rd finger namespace: medical_genetics 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:curators] xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 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 ! Partial/complete duplication of phalanges of the 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009959 ! Partial/complete duplication of phalanges of the 3rd finger is_a: HP:0009998 ! Complete duplication of the phalanges of the 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009959 ! Partial/complete duplication of phalanges of the 3rd finger is_a: HP:0009999 ! Partial duplication of the phalanges of the hand created_by: doelkens creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009962 name: Partial/complete duplication of the distal phalanx of the 3rd finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205437 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009883 ! Partial/complete duplication of the distal phalanges of the hand is_a: HP:0009959 ! Partial/complete duplication of phalanges of the 3rd finger created_by: doelkens creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009963 name: Partial/complete duplication of the middle phalanx of the 3rd finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205437 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009959 ! Partial/complete duplication of phalanges of the 3rd finger is_a: HP:0010008 ! Partial/complete duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-05-26T12:46:36Z [Term] id: HP:0009964 name: Partial/complete duplication of the proximal phalanx of the 3rd finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205437 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009959 ! Partial/complete duplication of phalanges of the 3rd finger is_a: HP:0010006 ! Partial/complete duplication of the proximal phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205437 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009962 ! Partial/complete duplication of the distal phalanx of the 3rd finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205437 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009963 ! Partial/complete duplication of the middle phalanx of the 3rd finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205437 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009960 ! Complete duplication of the phalanges of the 3rd finger is_a: HP:0009964 ! Partial/complete duplication of the proximal phalanx of the 3rd finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand 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 namespace: medical_genetics def: "A partial duplication of the distal phalanx of the middle finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009962 ! Partial/complete duplication of the distal phalanx of the 3rd finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand 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 namespace: medical_genetics def: "A partial duplication of the middle phalanx of the middle finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009963 ! Partial/complete duplication of the middle phalanx of the 3rd finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand 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 namespace: medical_genetics def: "A partial duplication of the proximal phalanx of the middle finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205437 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009961 ! Partial duplication of the phalanges of the 3rd finger is_a: HP:0009964 ! Partial/complete duplication of the proximal phalanx of the 3rd finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T12:49:59Z [Term] id: HP:0009971 name: Polydactyly affecting the 4th finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0152427 xref: UMLS:C0205438 xref: UMLS:C0392760 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1314939 xref: UMLS:C2117329 is_a: HP:0004188 ! Abnormality of the 4th finger is_a: HP:0006159 ! Central polydactyly (hands) created_by: doelkens creation_date: 2009-05-26T02:19:06Z [Term] id: HP:0009972 name: Partial/complete duplication of phalanges of the 4th finger namespace: medical_genetics 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:curators] xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 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 ! Partial/complete duplication of phalanges of the 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009972 ! Partial/complete duplication of phalanges of the 4th finger is_a: HP:0009998 ! Complete duplication of the phalanges of the 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009972 ! Partial/complete duplication of phalanges of the 4th finger is_a: HP:0009999 ! Partial duplication of the phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009975 name: Partial/complete duplication of the distal phalanx of the 4th finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205438 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009883 ! Partial/complete duplication of the distal phalanges of the hand is_a: HP:0009972 ! Partial/complete duplication of phalanges of the 4th finger created_by: doelkens creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009976 name: Partial/complete duplication of the middle phalanx of the 4th finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205438 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009972 ! Partial/complete duplication of phalanges of the 4th finger is_a: HP:0010008 ! Partial/complete duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:20:08Z [Term] id: HP:0009977 name: Partial/complete duplication of the proximal phalanx of the 4th finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205438 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009972 ! Partial/complete duplication of phalanges of the 4th finger is_a: HP:0010006 ! Partial/complete duplication of the proximal phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205438 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009975 ! Partial/complete duplication of the distal phalanx of the 4th finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205438 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009976 ! Partial/complete duplication of the middle phalanx of the 4th finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205438 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009973 ! Complete duplication of the phalanges of the 4th finger is_a: HP:0009977 ! Partial/complete duplication of the proximal phalanx of the 4th finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand 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 namespace: medical_genetics def: "A partial duplication of the distal phalanx of the ring finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009975 ! Partial/complete duplication of the distal phalanx of the 4th finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand 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 namespace: medical_genetics def: "A partial duplication of the middle phalanx of the ring finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009976 ! Partial/complete duplication of the middle phalanx of the 4th finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand 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 namespace: medical_genetics def: "A partial duplication of the proximal phalanx of the ring finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205438 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009974 ! Partial duplication of the phalanges of the 4th finger is_a: HP:0009977 ! Partial/complete duplication of the proximal phalanx of the 4th finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:20:37Z [Term] id: HP:0009985 name: Partial/complete duplication of phalanges of the 5th finger namespace: medical_genetics 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:curators] xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0001162 ! Postaxial polydactyly (hands) is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009997 ! Partial/complete duplication of phalanges of the 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009985 ! Partial/complete duplication of phalanges of the 5th finger is_a: HP:0009998 ! Complete duplication of the phalanges of the 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 namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009985 ! Partial/complete duplication of phalanges of the 5th finger is_a: HP:0009999 ! Partial duplication of the phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009988 name: Partial/complete duplication of the distal phalanx of the 5th finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205439 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009883 ! Partial/complete duplication of the distal phalanges of the hand is_a: HP:0009985 ! Partial/complete duplication of phalanges of the 5th finger created_by: doelkens creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009989 name: Partial/complete duplication of the middle phalanx of the 5th finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205439 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009985 ! Partial/complete duplication of phalanges of the 5th finger is_a: HP:0010008 ! Partial/complete duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:24:20Z [Term] id: HP:0009990 name: Partial/complete duplication of the proximal phalanx of the 5th finger namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205439 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009985 ! Partial/complete duplication of phalanges of the 5th finger is_a: HP:0010006 ! Partial/complete duplication of the proximal phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205439 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009988 ! Partial/complete duplication of the distal phalanx of the 5th finger is_a: HP:0010001 ! Complete duplication of the distal phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205439 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009989 ! Partial/complete duplication of the middle phalanx of the 5th finger is_a: HP:0010002 ! Complete duplication of the middle phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0016129 xref: UMLS:C0205197 xref: UMLS:C0205439 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1705960 is_a: HP:0009986 ! Complete duplication of the phalanges of the 5th finger is_a: HP:0009990 ! Partial/complete duplication of the proximal phalanx of the 5th finger is_a: HP:0010000 ! Complete duplication of the proximal phalanges of the hand 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 namespace: medical_genetics def: "A partial duplication of the distal phalanx of the little finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009988 ! Partial/complete duplication of the distal phalanx of the 5th finger is_a: HP:0010004 ! Partial duplication of the distal phalanges of the hand 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 namespace: medical_genetics def: "A partial duplication of the middle phalanx of the little finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009989 ! Partial/complete duplication of the middle phalanx of the 5th finger is_a: HP:0010005 ! Partial duplication of the middle phalanges of the hand 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 namespace: medical_genetics def: "A partial duplication of the proximal phalanx of the little finger, seen on x-rays as a broad and/or bifid phalanx." [HPO:curators] xref: UMLS:C0016129 xref: UMLS:C0205439 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0728938 xref: UMLS:C0851278 xref: UMLS:C1281584 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0009987 ! Partial duplication of the phalanges of the 5th finger is_a: HP:0009990 ! Partial/complete duplication of the proximal phalanx of the 5th finger is_a: HP:0010003 ! Partial duplication of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:24:47Z [Term] id: HP:0009997 name: Partial/complete duplication of phalanges of the hand namespace: medical_genetics 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:curators] synonym: "Duplication of finger bones" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0205197 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1281583 xref: UMLS:C1550516 xref: UMLS:C1552914 xref: UMLS:C1705960 is_a: HP:0001167 ! Abnormality of the fingers is_a: HP:0004275 ! Duplication of hand bones is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:28:25Z [Term] id: HP:0009998 name: Complete duplication of the phalanges of the hand namespace: medical_genetics 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] xref: UMLS:C0018563 xref: UMLS:C0205197 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1705960 is_a: HP:0009997 ! Partial/complete duplication of phalanges of the hand created_by: doelkens creation_date: 2009-05-26T02:30:16Z [Term] id: HP:0009999 name: Partial duplication of the phalanges of the hand namespace: medical_genetics 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] xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0728938 xref: UMLS:C1281583 xref: UMLS:C1550516 xref: UMLS:C1552914 xref: UMLS:C1705960 is_a: HP:0009997 ! Partial/complete duplication of phalanges of the 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 namespace: medical_genetics 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] xref: UMLS:C0018563 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1705960 is_a: HP:0009998 ! Complete duplication of the phalanges of the hand is_a: HP:0010006 ! Partial/complete duplication of the proximal phalanges of the 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 namespace: medical_genetics def: "A complete duplication affecting one or more of the distal 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] xref: UMLS:C0018563 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1705960 is_a: HP:0009883 ! Partial/complete duplication of the distal phalanges of the hand is_a: HP:0009998 ! Complete duplication of the phalanges of the 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 namespace: medical_genetics 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 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] xref: UMLS:C0018563 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0725685 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1705960 is_a: HP:0009998 ! Complete duplication of the phalanges of the hand is_a: HP:0010008 ! Partial/complete duplication of the middle phalanges of the 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 namespace: medical_genetics 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] xref: UMLS:C0018563 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0728938 xref: UMLS:C1281583 xref: UMLS:C1550516 xref: UMLS:C1552914 xref: UMLS:C1705960 is_a: HP:0009999 ! Partial duplication of the phalanges of the hand is_a: HP:0010006 ! Partial/complete duplication of the proximal phalanges of the 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 namespace: medical_genetics 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] xref: UMLS:C0018563 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0728938 xref: UMLS:C1281583 xref: UMLS:C1550516 xref: UMLS:C1552914 xref: UMLS:C1705960 is_a: HP:0009883 ! Partial/complete duplication of the distal phalanges of the hand is_a: HP:0009999 ! Partial duplication of the phalanges of the 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 namespace: medical_genetics 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] xref: UMLS:C0018563 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0728938 xref: UMLS:C1281583 xref: UMLS:C1550516 xref: UMLS:C1552914 xref: UMLS:C1705960 is_a: HP:0009999 ! Partial duplication of the phalanges of the hand is_a: HP:0010008 ! Partial/complete duplication of the middle phalanges of the hand created_by: doelkens creation_date: 2009-05-26T03:55:29Z [Term] id: HP:0010006 name: Partial/complete duplication of the proximal phalanges of the hand namespace: medical_genetics 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:curators] xref: UMLS:C0018563 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1281583 xref: UMLS:C1550516 xref: UMLS:C1552914 xref: UMLS:C1705960 is_a: HP:0009997 ! Partial/complete duplication of phalanges of the hand created_by: doelkens creation_date: 2009-05-26T05:29:46Z [Term] id: HP:0010008 name: Partial/complete duplication of the middle phalanges of the hand namespace: medical_genetics 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:curators] xref: UMLS:C0018563 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1281583 xref: UMLS:C1550516 xref: UMLS:C1552914 xref: UMLS:C1705960 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 ! Partial/complete duplication of phalanges of the hand created_by: doelkens creation_date: 2009-05-26T05:29:46Z [Term] id: HP:0010009 name: Abnormality of the 1st metacarpal namespace: medical_genetics 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. This term applies to abnormalities of the first metacarpal." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C1269064 xref: UMLS:C1704258 is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0009602 ! Abnormality of the phalanges of the thumb created_by: doelkens creation_date: 2009-05-27T03:35:21Z [Term] id: HP:0010010 name: Abnormality of the 2nd metacarpal namespace: medical_genetics def: "Any abnormality of the second metacarpal bone." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0025526 xref: UMLS:C0205436 xref: UMLS:C1269064 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Any abnormality of the third metacarpal bone." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0025526 xref: UMLS:C0205437 xref: UMLS:C1269064 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Any abnormality of the fourth metacarpal bone." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0025526 xref: UMLS:C0205438 xref: UMLS:C1269064 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Any abnormality of the fifth metacarpal bone." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0025526 xref: UMLS:C0205439 xref: UMLS:C1269064 xref: UMLS:C1704258 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 namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C1269064 xref: UMLS:C1704258 is_a: HP:0005913 ! Abnormality of metacarpal epiphyses is_a: HP:0009599 ! Abnormality of the epiphyses of the thumb 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C0332197 xref: UMLS:C1269064 is_a: HP:0009686 ! Absent epiphyses of the thumb 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0179407 xref: UMLS:C0205435 xref: UMLS:C1269064 is_a: HP:0009687 ! Bracket epiphyses of the thumb 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 created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010017 name: Cone-shaped epiphysis of the 1st metacarpal namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C1269064 xref: UMLS:C1865037 is_a: HP:0009688 ! Cone-shaped epiphyses of the thumb 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 namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C1269064 xref: UMLS:C1848495 is_a: HP:0009689 ! Enlarged epiphyses of the thumb 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0185061 xref: UMLS:C0205435 xref: UMLS:C0332472 xref: UMLS:C1269064 xref: UMLS:C1881708 is_a: HP:0009690 ! Fragmentation of the epiphyses of the thumb 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 namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C1269064 xref: UMLS:C1846449 is_a: HP:0009691 ! Irregular epiphyses of the thumb 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 namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C1269064 xref: UMLS:C1856911 is_a: HP:0009692 ! Ivory epiphyses of the thumb 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 namespace: medical_genetics def: "The epiphysis of the first metacarpal is localised at the proximal end of the metacarpal bone although an accesory epiphysis may be located at the distal end of the metacarpal (this might be seen for example in Holt-Oram Syndrome)." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C1269064 xref: UMLS:C1841685 is_a: HP:0009693 ! Pseudoepiphyses of the thumb 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 namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C1269064 xref: UMLS:C1846803 is_a: HP:0009694 ! Small epiphyses of the thumb 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: Stippling of the epiphysis of the 1st metacarpal namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C1269064 xref: UMLS:C1979978 is_a: HP:0009695 ! Stippling of the epiphyses of the thumb 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 created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010025 name: Triangular epiphysis of the 1st metacarpal namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0205119 xref: UMLS:C0205435 xref: UMLS:C1269064 is_a: HP:0009696 ! Triangular epiphyses of the thumb is_a: HP:0010014 ! Abnormality of the epiphysis of the 1st metacarpal is_a: HP:0010278 ! Triangular epiphyses of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:02:50Z [Term] id: HP:0010026 name: Aplasia/Hypoplasia of the 1st metacarpal namespace: medical_genetics 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] xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1269064 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 namespace: medical_genetics 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] xref: UMLS:C0205435 xref: UMLS:C1842229 is_a: HP:0009651 ! Broad phalanges of the thumb 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 namespace: medical_genetics def: "The presence of short and wide 1st metacarpal which tapers distally (\"bullet shaped\"). 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] xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C1269064 xref: UMLS:C1706207 is_a: HP:0009652 ! Bullet-shaped 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:0010029 name: Curved 1st metacarpal namespace: medical_genetics def: "Curved 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C0205134 xref: UMLS:C0205435 xref: UMLS:C1269064 is_a: HP:0009653 ! Curved 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:0010030 name: Osteolytic defects of the 1st metacarpal namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the 1st metacarpal. In contrast to the proximal phalanges of the digits 2-5, the proximal phalanx of the thumb is embryologically equivalent to the middle phalanges of the other digits, whereas the first metacarpal is embryologically of phalangeal origin and as such equivalent to the proximal phalanges of the other digits." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C0205435 xref: UMLS:C0243067 xref: UMLS:C1269064 xref: UMLS:C1518633 is_a: HP:0009654 ! Osteolytic defects 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:0010031 name: Patchy sclerosis of the 1st metacarpal namespace: medical_genetics def: "Patchy increase in bone density that affects the 1st metacarpal. 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] xref: UMLS:C0025526 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205435 xref: UMLS:C1269064 is_a: HP:0005686 ! Patchy osteosclerosis is_a: HP:0009655 ! Patchy sclerosis of the phalanges of the thumb is_a: HP:0010009 ! Abnormality of the 1st metacarpal is_a: HP:0010660 ! Abnormality of the mineralisation and ossification of bones of the hand created_by: doelkens creation_date: 2009-05-27T04:24:30Z [Term] id: HP:0010033 name: Triangular shaped 1st metacarpal namespace: medical_genetics 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. This term applies to a triangular shaped 1st metacarpal. 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)." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C0205119 xref: UMLS:C0205435 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1269064 is_a: HP:0009657 ! Triangular shaped 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:0010034 name: Hypoplastic/short 1st metacarpal namespace: medical_genetics alt_id: HP:0001190 alt_id: HP:0001499 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: "First metacarpal hypoplasia" EXACT [] synonym: "First metacarpals hypoplastic" EXACT [] synonym: "Short first metacarpal" EXACT [] synonym: "Short first metacarpals" EXACT [] xref: UMLS:C0205435 xref: UMLS:C0543481 xref: UMLS:C1844546 xref: UMLS:C1849311 xref: UMLS:C1861308 xref: UMLS:C1866001 is_a: HP:0009660 ! Hypoplastic/small phalanges of the thumb is_a: HP:0010026 ! Aplasia/Hypoplasia of the 1st metacarpal is_a: HP:0010049 ! Hypoplastic/short metacarpal bones is_a: HP:0010241 ! Hypoplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-05-27T04:24:50Z [Term] id: HP:0010035 name: Aplasia of the 1st metacarpal namespace: medical_genetics 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:C0025526 xref: UMLS:C0205435 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1269064 xref: UMLS:C1838610 is_a: HP:0009659 ! Aplasia of the phalanges of the 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 namespace: medical_genetics def: "Aplasia or Hypoplasia affecting the 2nd metacarpal." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1269064 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 namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1269064 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: Hypoplastic/short 2nd metacarpal namespace: medical_genetics alt_id: HP:0006231 synonym: "Rudimentary 2nd metacarpal" EXACT [] xref: UMLS:C0205436 xref: UMLS:C0543481 xref: UMLS:C1844546 xref: UMLS:C1969397 is_a: HP:0010036 ! Aplasia/Hypoplasia of the 2nd metacarpal is_a: HP:0010049 ! Hypoplastic/short metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:35:04Z [Term] id: HP:0010039 name: Aplasia/Hypoplasia of the 3rd metacarpal namespace: medical_genetics def: "Aplasia or Hypoplasia affecting the 3rd metacarpal." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C0205437 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1269064 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 namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0205437 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1269064 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: Hypoplastic/short 3rd metacarpal namespace: medical_genetics alt_id: HP:0006074 synonym: "Short 3rd metacarpals" EXACT [] xref: UMLS:C0543481 xref: UMLS:C1850631 is_a: HP:0010039 ! Aplasia/Hypoplasia of the 3rd metacarpal is_a: HP:0010049 ! Hypoplastic/short metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:36:08Z [Term] id: HP:0010042 name: Aplasia/Hypoplasia of the 4th metacarpal namespace: medical_genetics def: "Aplasia or Hypoplasia affecting the 4th metacarpal." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C0205438 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1269064 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 namespace: medical_genetics xref: UMLS:C0025526 xref: UMLS:C0205438 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1269064 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: Hypoplastic/short 4th metacarpal namespace: medical_genetics alt_id: HP:0005094 synonym: "short 4th metacarpal" EXACT [] synonym: "Short 4th metacarpals" EXACT [] synonym: "Short fourth metacarpal" EXACT [] synonym: "Short fourth metacarpals" EXACT [] synonym: "Short metacarpals, esp 4th" EXACT [] xref: UMLS:C0015373 xref: UMLS:C0037747 xref: UMLS:C0205438 xref: UMLS:C0543481 xref: UMLS:C1421982 xref: UMLS:C1837084 xref: UMLS:C1840309 xref: UMLS:C1862312 xref: UMLS:C1864788 is_a: HP:0010042 ! Aplasia/Hypoplasia of the 4th metacarpal is_a: HP:0010049 ! Hypoplastic/short metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:37:00Z [Term] id: HP:0010045 name: Aplasia/Hypoplasia of the 5th metacarpal namespace: medical_genetics def: "Aplasia or Hypoplasia affecting the 5th metacarpal." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C0205439 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1269064 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 namespace: medical_genetics alt_id: HP:0006103 synonym: "Absent 5th metacarpal" EXACT [] xref: UMLS:C0025526 xref: UMLS:C0205439 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1269064 xref: UMLS:C1867929 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: Hypoplastic/short 5th metacarpal namespace: medical_genetics alt_id: HP:0005737 alt_id: HP:0006222 synonym: "Fifth metacarpal hypoplasia" EXACT [] synonym: "Short 5th metacarpal" EXACT [] synonym: "Short fifth metacarpal" EXACT [] xref: UMLS:C0543481 xref: UMLS:C1846953 xref: UMLS:C1858421 xref: UMLS:C1861388 is_a: HP:0010045 ! Aplasia/Hypoplasia of the 5th metacarpal is_a: HP:0010049 ! Hypoplastic/short metacarpal bones created_by: doelkens creation_date: 2009-05-27T04:37:44Z [Term] id: HP:0010048 name: Aplasia of metacarpal bones namespace: medical_genetics alt_id: HP:0005911 synonym: "Absent metacarpal" EXACT [] synonym: "Absent metacarpals" EXACT [] xref: UMLS:C0025526 xref: UMLS:C0243065 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C1182937 xref: UMLS:C1269064 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: Hypoplastic/short metacarpal bones namespace: medical_genetics alt_id: HP:0001164 alt_id: HP:0005695 alt_id: HP:0006183 synonym: "Hypoplastic metacarpal" EXACT [] synonym: "Metacarpal hypoplasia" EXACT [] synonym: "Short metacarpal" EXACT [] synonym: "Short metacarpals" EXACT [] synonym: "Shortened metacarpals" EXACT [] xref: UMLS:C0025526 xref: UMLS:C0262950 xref: UMLS:C0543481 xref: UMLS:C1182937 xref: UMLS:C1266909 xref: UMLS:C1806781 xref: UMLS:C1836192 xref: UMLS:C1837084 xref: UMLS:C1838127 xref: UMLS:C1844546 xref: UMLS:C1859379 xref: UMLS:C2350002 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/Displacement of the hallux namespace: medical_genetics def: "Displacement of the big toe from its normal position." [HPO:curators] xref: UMLS:C0012725 xref: UMLS:C0012727 xref: UMLS:C0018534 xref: UMLS:C0205419 xref: UMLS:C0456080 xref: UMLS:C1705236 xref: UMLS:C2347509 is_a: HP:0001844 ! Abnormality of the hallux created_by: doelkens creation_date: 2009-05-29T11:36:44Z [Term] id: HP:0010052 name: Abnormality of the proximal phalanx of the hallux namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0018534 xref: UMLS:C0576462 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0018534 xref: UMLS:C0576464 xref: UMLS:C1704258 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 1st metatarsal namespace: medical_genetics 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 first metatarsal." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C1269609 xref: UMLS:C1704258 is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010184 ! Abnormality of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T11:49:54Z [Term] id: HP:0010055 name: Broad hallux namespace: medical_genetics alt_id: HP:0001834 alt_id: HP:0003094 synonym: "Abnormally broad great toes" EXACT [] synonym: "Broad great toe" EXACT [] synonym: "Broad great toes" EXACT [] synonym: "Broad hallux" EXACT [] xref: UMLS:C0205161 xref: UMLS:C1855911 xref: UMLS:C1867131 xref: UMLS:C2347472 is_a: HP:0001837 ! Broad toes 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0018534 xref: UMLS:C0223792 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 is_a: HP:0001831 ! Brachydactyly (feet) 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 phalanges of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C1842230 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010174 ! Broad phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010060 name: Bullet-shaped phalanges of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C1706207 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010175 ! Bullet-shaped phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010061 name: Curved phalanges of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0205134 xref: UMLS:C0223792 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010176 ! Curved phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010062 name: Osteolytic defects of the phalanges of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0223792 xref: UMLS:C0243067 xref: UMLS:C1518633 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 the phalanges of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0223792 is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010178 ! Patchy sclerosis of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010064 name: Symphalangism affecting the phalanges of the hallux namespace: medical_genetics alt_id: HP:0004687 synonym: "hallucal symphalangism" EXACT [] xref: UMLS:C0018534 xref: UMLS:C0039075 xref: UMLS:C0223792 xref: UMLS:C0392760 xref: UMLS:C1314939 xref: UMLS:C1836216 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0205119 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0522512 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: Partial/complete duplication of the phalanges of the hallux namespace: medical_genetics alt_id: HP:0001784 alt_id: HP:0005785 alt_id: HP:0005851 synonym: "Duplicated hallux" EXACT [] synonym: "Duplication of great toes" EXACT [] synonym: "Hallucal duplication" EXACT [] xref: UMLS:C0018534 xref: UMLS:C0205197 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1281588 xref: UMLS:C1550516 xref: UMLS:C1705960 xref: UMLS:C1856030 is_a: HP:0001841 ! Preaxial polydactyly (feet) is_a: HP:0010057 ! Abnormality of the phalanges of the hallux is_a: HP:0010181 ! Partial/complete duplication of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:10:46Z [Term] id: HP:0010067 name: Aplasia/Hypoplasia of the 1st metatarsal namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1269609 is_a: HP:0010054 ! Abnormality of the 1st metatarsal is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010203 ! Aplasia/Hypoplasia of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010068 name: Broad 1st metatarsal namespace: medical_genetics alt_id: HP:0004709 alt_id: HP:0008139 def: "Increased side-to-side width of the `first metatarsal bone` (FMA:24502)." [HPO:probinson] synonym: "broad first metatarsal" EXACT [] synonym: "Enlarged first metatarsal" EXACT [] xref: UMLS:C0205435 xref: UMLS:C0223976 xref: UMLS:C0442800 xref: UMLS:C0459701 xref: UMLS:C1293134 xref: UMLS:C1842231 xref: UMLS:C1855899 is_a: HP:0001783 ! Broad metatarsals is_a: HP:0010054 ! Abnormality of the 1st metatarsal is_a: HP:0010059 ! Broad phalanges of the hallux is_a: HP:0010204 ! Broad proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010069 name: Bullet-shaped 1st metatarsal namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C1269609 xref: UMLS:C1706207 is_a: HP:0010054 ! Abnormality of the 1st metatarsal is_a: HP:0010060 ! Bullet-shaped phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010070 name: Curved 1st metatarsal namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205134 xref: UMLS:C0205435 xref: UMLS:C1269609 is_a: HP:0010054 ! Abnormality of the 1st metatarsal is_a: HP:0010061 ! Curved phalanges of the hallux is_a: HP:0010206 ! Curved proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010071 name: Osteolytic defects of the 1st metatarsal namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C0243067 xref: UMLS:C1269609 xref: UMLS:C1518633 is_a: HP:0010054 ! Abnormality of the 1st metatarsal is_a: HP:0010062 ! Osteolytic defects of the phalanges of the hallux is_a: HP:0010207 ! Osteolytic defects of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010072 name: Patchy sclerosis of the 1st metatarsal namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0205435 xref: UMLS:C1269609 is_a: HP:0010054 ! Abnormality of the 1st metatarsal is_a: HP:0010063 ! Patchy sclerosis of the phalanges of the hallux is_a: HP:0010208 ! Patchy sclerosis of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010073 name: Synostosis involving the 1st metatarsal namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0039075 xref: UMLS:C0205435 xref: UMLS:C0392760 xref: UMLS:C1269609 xref: UMLS:C1314939 is_a: HP:0010054 ! Abnormality of the 1st metatarsal is_a: HP:0010064 ! Symphalangism affecting the phalanges of the hallux is_a: HP:0010209 ! Symphalangism affecting the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010074 name: Triangular shaped 1st metatarsal namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205119 xref: UMLS:C0205435 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1269609 is_a: HP:0010054 ! Abnormality of the 1st metatarsal is_a: HP:0010065 ! Triangular shaped phalanges of the hallux is_a: HP:0010210 ! Triangular shaped proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010075 name: Partial/complete duplication of the1st metatarsal namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1269609 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010054 ! Abnormality of the 1st metatarsal is_a: HP:0010066 ! Partial/complete duplication of the phalanges of the hallux is_a: HP:0010211 ! Partial/complete duplication of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:13:57Z [Term] id: HP:0010076 name: Aplasia/Hypoplasia of the distal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576464 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C1850630 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010059 ! Broad phalanges of the hallux is_a: HP:0010186 ! Broad distal phalanges 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576464 xref: UMLS:C1706207 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010060 ! Bullet-shaped phalanges of the hallux is_a: HP:0010187 ! Bullet-shaped distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010079 name: Curved distal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0205134 xref: UMLS:C0576464 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010061 ! Curved phalanges of the hallux is_a: HP:0010188 ! Curved distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010080 name: Osteolytic defects of the distal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0243067 xref: UMLS:C0576464 xref: UMLS:C1518633 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0576464 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010063 ! Patchy sclerosis of the phalanges of the hallux is_a: HP:0010190 ! Patchy sclerosis of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010082 name: Symphalangism affecting the distal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0039075 xref: UMLS:C0392760 xref: UMLS:C0576464 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C1968591 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: Partial/complete duplication of the distal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010053 ! Abnormality of the distal phalanx of the hallux is_a: HP:0010066 ! Partial/complete duplication of the phalanges of the hallux is_a: HP:0010193 ! Partial/complete duplication of the distal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:16:28Z [Term] id: HP:0010085 name: Aplasia/Hypoplasia of the proximal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576462 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0332464 xref: UMLS:C0576462 is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010059 ! Broad phalanges of the hallux is_a: HP:0010195 ! Broad middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010087 name: Bullet-shaped proximal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C1706207 is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010060 ! Bullet-shaped phalanges of the hallux is_a: HP:0010196 ! Bullet-shaped middle phalanges of the toes is_a: HP:0010205 ! Bullet-shaped proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010088 name: Curved proximal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0205134 xref: UMLS:C0576462 is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010061 ! Curved phalanges of the hallux is_a: HP:0010197 ! Curved middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010089 name: Osteolytic defects of the proximal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0243067 xref: UMLS:C0576462 xref: UMLS:C1518633 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0036429 xref: UMLS:C0205413 xref: UMLS:C0576462 is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010063 ! Patchy sclerosis of the phalanges of the hallux is_a: HP:0010199 ! Patchy sclerosis of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010091 name: Symphalangism affecting the proximal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0039075 xref: UMLS:C0392760 xref: UMLS:C0576462 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0205119 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576462 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: Partial/complete duplication of the proximal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010052 ! Abnormality of the proximal phalanx of the hallux is_a: HP:0010066 ! Partial/complete duplication of the phalanges of the hallux is_a: HP:0010202 ! Partial/complete duplication of the middle phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:17:16Z [Term] id: HP:0010094 name: Complete duplication of the proximal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C1705960 is_a: HP:0010093 ! Partial/complete duplication of the proximal phalanx of the hallux is_a: HP:0010100 ! Complete duplication of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:18:59Z [Term] id: HP:0010095 name: Partial duplication of the proximal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010093 ! Partial/complete duplication of the proximal phalanx of the hallux is_a: HP:0010101 ! Partial duplication of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:18:59Z [Term] id: HP:0010096 name: Complete duplication of the distal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C1705960 is_a: HP:0010084 ! Partial/complete duplication of the distal phalanx of the hallux is_a: HP:0010100 ! Complete duplication of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:19:30Z [Term] id: HP:0010097 name: Partial duplication of the distal phalanx of the hallux namespace: medical_genetics alt_id: HP:0008091 synonym: "Bifid distal phalanx of hallux" EXACT [] xref: UMLS:C0018534 xref: UMLS:C0332597 xref: UMLS:C0443152 xref: UMLS:C0576464 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010084 ! Partial/complete 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 namespace: medical_genetics alt_id: HP:0008121 synonym: "Duplicated first metatarsals" EXACT [] xref: UMLS:C0025584 xref: UMLS:C0205197 xref: UMLS:C0205435 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C1269609 xref: UMLS:C1705960 xref: UMLS:C1851855 is_a: HP:0001449 ! Duplication of metatarsal bones is_a: HP:0010075 ! Partial/complete duplication of the1st metatarsal is_a: HP:0010100 ! Complete duplication of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:20:12Z [Term] id: HP:0010099 name: Partial duplication of the 1st metatarsal namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C0332597 xref: UMLS:C0728938 xref: UMLS:C1269609 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010075 ! Partial/complete duplication of the1st 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 the phalanges of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0205197 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C1705960 is_a: HP:0010066 ! Partial/complete duplication of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:22:12Z [Term] id: HP:0010101 name: Partial duplication of the phalanges of the hallux namespace: medical_genetics alt_id: HP:0004678 synonym: "partial duplication of hallux" EXACT [] xref: UMLS:C0018534 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010066 ! Partial/complete duplication of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:22:12Z [Term] id: HP:0010102 name: Aplasia of the distal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576464 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: Hypoplastic/small distal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C0700321 is_a: HP:0010076 ! Aplasia/Hypoplasia of the distal phalanx of the hallux is_a: HP:0010111 ! Hypoplastic/small phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:41:37Z [Term] id: HP:0010104 name: Aplasia of the 1st metatarsal namespace: medical_genetics alt_id: HP:0006124 synonym: "Absent first metatarsal" EXACT [] xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1269609 xref: UMLS:C1863382 is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones is_a: HP:0010067 ! Aplasia/Hypoplasia of the 1st metatarsal is_a: HP:0010110 ! Aplasia of the phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:42:09Z [Term] id: HP:0010105 name: Hypoplastic/short 1st metatarsal namespace: medical_genetics xref: UMLS:C0205435 xref: UMLS:C0543481 xref: UMLS:C1844547 is_a: HP:0010067 ! Aplasia/Hypoplasia of the 1st metatarsal is_a: HP:0010111 ! Hypoplastic/small phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:42:09Z [Term] id: HP:0010106 name: Aplasia of the proximal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576462 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: Hypoplastic/small proximal phalanx of the hallux namespace: medical_genetics alt_id: HP:0008101 alt_id: HP:0008129 synonym: "Short proximal phalanges of halluces" EXACT [] synonym: "Short proximal phalanx of halluces" EXACT [] xref: UMLS:C0018534 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C0700321 xref: UMLS:C1860606 is_a: HP:0010085 ! Aplasia/Hypoplasia of the proximal phalanx of the hallux is_a: HP:0010111 ! Hypoplastic/small phalanges of the hallux created_by: doelkens creation_date: 2009-05-29T12:43:40Z [Term] id: HP:0010108 name: Aplasia of the hallux namespace: medical_genetics alt_id: HP:0008084 synonym: "Agenesis of the halluces" EXACT [] xref: UMLS:C0000846 xref: UMLS:C0018534 xref: UMLS:C0243065 xref: UMLS:C0332907 xref: UMLS:C0334079 xref: UMLS:C2119045 is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux is_a: HP:0010760 ! Aplasia of the toes created_by: doelkens creation_date: 2009-05-29T12:46:00Z [Term] id: HP:0010109 name: Hypoplastic/small hallux namespace: medical_genetics alt_id: HP:0001843 alt_id: HP:0005610 def: "Underdevelopment of the `big toe` (FMA:25047)." [HPO:probinson] synonym: "Hypoplastic big toes" EXACT [] synonym: "Short halluces" EXACT [] xref: UMLS:C0018534 xref: UMLS:C0543481 xref: UMLS:C0549177 xref: UMLS:C0700321 xref: UMLS:C1835156 xref: UMLS:C1851135 is_a: HP:0004701 ! Hypoplasia of the toes is_a: HP:0008362 ! Aplasia/Hypoplasia of the hallux created_by: doelkens creation_date: 2009-05-29T12:46:14Z [Term] id: HP:0010110 name: Aplasia of the phalanges of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0334079 is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010108 ! Aplasia of the hallux is_a: HP:0010745 ! Aplasia fo the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:49:19Z [Term] id: HP:0010111 name: Hypoplastic/small phalanges of the hallux namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0223792 xref: UMLS:C0543481 xref: UMLS:C0700321 is_a: HP:0010058 ! Aplasia/Hypoplasia of the phalanges of the hallux is_a: HP:0010109 ! Hypoplastic/small hallux is_a: HP:0010746 ! Hypoplasia fo the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T12:49:19Z [Term] id: HP:0010112 name: Central polydactyly (feet) namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0347981 xref: UMLS:C1848595 is_a: HP:0001829 ! Polydactyly (feet) is_a: HP:0100260 ! Central polydactyly created_by: doelkens creation_date: 2009-05-29T01:11:06Z [Term] id: HP:0010113 name: Absent epiphyses of the hallux namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0332197 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0179407 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C1865037 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C1848495 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0185061 xref: UMLS:C0332472 xref: UMLS:C1881708 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C1846449 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C1856911 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C1841685 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C1846803 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C1979978 is_a: HP:0010056 ! Abnormality of the epiphyses of the hallux is_a: HP:0010171 ! Stippling of the epiphyses of the toes created_by: doelkens creation_date: 2009-05-29T01:16:38Z [Term] id: HP:0010123 name: Triangular epiphyses of the hallux namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0205119 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0576464 xref: UMLS:C1704258 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 namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C1269609 xref: UMLS:C1704258 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 namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0576462 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0332197 xref: UMLS:C0576462 is_a: HP:0010113 ! Absent 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:0010128 name: Bracket epiphysis of the proximal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0179407 xref: UMLS:C0576462 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0576462 xref: UMLS:C1865037 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0576462 xref: UMLS:C1848495 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0185061 xref: UMLS:C0332472 xref: UMLS:C0576462 xref: UMLS:C1881708 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0576462 xref: UMLS:C1846449 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0576462 xref: UMLS:C1856911 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0576462 xref: UMLS:C1841685 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0576462 xref: UMLS:C1846803 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0576462 xref: UMLS:C1979978 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0205119 xref: UMLS:C0576462 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0332197 xref: UMLS:C0576464 is_a: HP:0010113 ! Absent 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:0010139 name: Bracket epiphysis of the distal phalanx of the hallux namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0179407 xref: UMLS:C0576464 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0576464 xref: UMLS:C1865037 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0576464 xref: UMLS:C1848495 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0185061 xref: UMLS:C0332472 xref: UMLS:C0576464 xref: UMLS:C1881708 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0576464 xref: UMLS:C1846449 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0576464 xref: UMLS:C1856911 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0576464 xref: UMLS:C1841685 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 namespace: medical_genetics xref: UMLS:C0018534 xref: UMLS:C0576464 xref: UMLS:C1846803 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0576464 xref: UMLS:C1979978 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018534 xref: UMLS:C0205119 xref: UMLS:C0576464 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C0332197 xref: UMLS:C1269609 is_a: HP:0010113 ! Absent 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:0010150 name: Bracket epiphysis of the 1st metatarsal namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0025584 xref: UMLS:C0179407 xref: UMLS:C0205435 xref: UMLS:C1269609 is_a: HP:0010114 ! Bracket 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:0010151 name: Cone-shaped epiphysis of the 1st metatarsal namespace: medical_genetics def: "A conical (cone-shaped) appearance of the epiphysis of the first metatarsal of the foot." [HPO:curators] xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C1269609 xref: UMLS:C1865037 is_a: HP:0010054 ! Abnormality of the 1st metatarsal is_a: HP:0010125 ! Abnormality of the epiphysis of the 1st metatarsal is_a: HP:0010630 ! Abnormality of the epiphyses of the metatarsals created_by: doelkens creation_date: 2009-05-29T01:24:17Z [Term] id: HP:0010152 name: Enlarged epiphysis of the 1st metatarsal namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C1269609 xref: UMLS:C1848495 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0025584 xref: UMLS:C0185061 xref: UMLS:C0205435 xref: UMLS:C0332472 xref: UMLS:C1269609 xref: UMLS:C1881708 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 namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C1269609 xref: UMLS:C1846449 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 namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C1269609 xref: UMLS:C1856911 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 namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C1269609 xref: UMLS:C1841685 is_a: HP:0010120 ! Pseudoepiphyses 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:0010157 name: Small epiphysis of the 1st metatarsal namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C1269609 xref: UMLS:C1846803 is_a: HP:0010121 ! Small 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:0010158 name: Stippling of the epiphysis of the 1st metatarsal namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0025584 xref: UMLS:C0205435 xref: UMLS:C1269609 xref: UMLS:C1979978 is_a: HP:0010122 ! Stippling 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:0010159 name: Triangular epiphysis of the 1st metatarsal namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0025584 xref: UMLS:C0205119 xref: UMLS:C0205435 xref: UMLS:C1269609 is_a: HP:0010123 ! Triangular 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:0010160 name: Abnormality of the epiphyses of the toes namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0040357 xref: UMLS:C1704258 is_a: HP:0001780 ! Abnormality of the toes 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0223792 xref: UMLS:C1704258 is_a: HP:0001780 ! Abnormality of the toes created_by: doelkens creation_date: 2009-05-29T01:31:17Z [Term] id: HP:0010162 name: Absent epiphyses of the toes namespace: medical_genetics def: "Absence of the epiphyses of the phalanges of the toes." [HPO:sdoelken] xref: UMLS:C0014570 xref: UMLS:C0040357 xref: UMLS:C0332197 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0040357 xref: UMLS:C0179407 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C1865037 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010579 ! Cone-shaped epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010165 name: Enlarged epiphyses of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C1848495 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0040357 xref: UMLS:C0185061 xref: UMLS:C0332472 xref: UMLS:C1881708 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C1846449 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C1856911 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C1841685 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C1846803 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: Stippling of the epiphyses of the toes namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0040357 xref: UMLS:C1979978 is_a: HP:0010160 ! Abnormality of the epiphyses of the toes is_a: HP:0010655 ! Stippling of the epiphyses is_a: HP:0010656 ! Abnormality of the mineralisation or ossification of the epiphyses created_by: doelkens creation_date: 2009-05-29T01:34:06Z [Term] id: HP:0010172 name: Triangular epiphyses of the toes namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0040357 xref: UMLS:C0205119 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 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 phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C1842230 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010175 name: Bullet-shaped phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C1706207 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 phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205134 xref: UMLS:C0223792 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0223792 xref: UMLS:C0243067 xref: UMLS:C1518633 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 the phalanges of the toes namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0040357 xref: UMLS:C0205413 xref: UMLS:C0223792 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010179 name: Symphalangism affecting the phalanges of the toes namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0223792 xref: UMLS:C0392760 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205119 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0522512 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: Partial/complete duplication of the phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010161 ! Abnormality of the phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:39:26Z [Term] id: HP:0010182 name: Abnormality of the distal phalanges of the toes namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0576464 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0576463 xref: UMLS:C1704258 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 the proximal phalanges of the toes namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0576462 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576464 is_a: HP:0010173 ! Aplasia/Hypoplasia 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:0010186 name: Broad distal phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C1850630 is_a: HP:0010174 ! Broad 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:0010187 name: Bullet-shaped distal phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205108 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C1706207 is_a: HP:0010175 ! Bullet-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:0010188 name: Curved distal phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205108 xref: UMLS:C0205134 xref: UMLS:C0223792 is_a: HP:0010176 ! Curved 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:0010189 name: Osteolytic defects of the distal phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0243067 xref: UMLS:C0576464 xref: UMLS:C1518633 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 the distal phalanges of the toes namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0040357 xref: UMLS:C0205413 xref: UMLS:C0576464 is_a: HP:0010178 ! Patchy sclerosis 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:0010191 name: Symphalangism affecting the distal phalanges of the toes namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0392760 xref: UMLS:C0576464 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C1968591 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: Partial/complete duplication of the distal phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1705960 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:0010194 name: Aplasia/Hypoplasia of the middle phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576463 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0444598 xref: UMLS:C1552826 xref: UMLS:C1842230 is_a: HP:0010174 ! Broad 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:0010196 name: Bullet-shaped middle phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C1706207 is_a: HP:0010175 ! Bullet-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:0010197 name: Curved middle phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205134 xref: UMLS:C0576463 is_a: HP:0010176 ! Curved 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:0010198 name: Osteolytic defects of the middle phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0243067 xref: UMLS:C0576463 xref: UMLS:C1518633 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 the middle phalanges of the toes namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0040357 xref: UMLS:C0205413 xref: UMLS:C0576463 is_a: HP:0010178 ! Patchy sclerosis 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:0010200 name: Symphalangism affecting the middle phalanges of the toes namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0392760 xref: UMLS:C0576463 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205119 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576463 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: Partial/complete duplication of the middle phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1705960 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:0010203 name: Aplasia/Hypoplasia of the proximal phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576462 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010184 ! Abnormality of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010204 name: Broad proximal phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205107 xref: UMLS:C1842230 is_a: HP:0010174 ! Broad phalanges of the toes is_a: HP:0010184 ! Abnormality of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010205 name: Bullet-shaped proximal phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205107 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C1706207 is_a: HP:0010175 ! Bullet-shaped phalanges of the toes is_a: HP:0010184 ! Abnormality of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010206 name: Curved proximal phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205107 xref: UMLS:C0205134 xref: UMLS:C0223792 is_a: HP:0010176 ! Curved phalanges of the toes is_a: HP:0010184 ! Abnormality of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010207 name: Osteolytic defects of the proximal phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0243067 xref: UMLS:C0576462 xref: UMLS:C1518633 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010184 ! Abnormality of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010208 name: Patchy sclerosis of the proximal phalanges of the toes namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0040357 xref: UMLS:C0205413 xref: UMLS:C0576462 is_a: HP:0010178 ! Patchy sclerosis of the phalanges of the toes is_a: HP:0010184 ! Abnormality of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010209 name: Symphalangism affecting the proximal phalanges of the toes namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0392760 xref: UMLS:C0576462 xref: UMLS:C1314939 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010184 ! Abnormality of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010210 name: Triangular shaped proximal phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205107 xref: UMLS:C0205119 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0522512 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010184 ! Abnormality of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010211 name: Partial/complete duplication of the proximal phalanges of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010184 ! Abnormality of the proximal phalanges of the toes created_by: doelkens creation_date: 2009-05-29T01:54:18Z [Term] id: HP:0010212 name: Joint contractures of the hallux namespace: medical_genetics xref: UMLS:C0009918 xref: UMLS:C0018534 is_a: HP:0001836 ! Camptodactyly (feet) is_a: HP:0001844 ! Abnormality of the hallux created_by: doelkens creation_date: 2009-06-02T01:39:18Z [Term] id: HP:0010213 name: Contractures of the tarsometatarsal joint of the hallux namespace: medical_genetics 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:curators] xref: UMLS:C0009917 xref: UMLS:C0018534 xref: UMLS:C0224724 xref: UMLS:C1269077 is_a: HP:0010212 ! Joint contractures of the hallux created_by: doelkens creation_date: 2009-06-02T01:45:34Z [Term] id: HP:0010214 name: Contractures of the interphalangeal joint of the hallux namespace: medical_genetics xref: UMLS:C0009917 xref: UMLS:C0018534 xref: UMLS:C1563055 is_a: HP:0010212 ! Joint contractures 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 namespace: medical_genetics xref: UMLS:C0009917 xref: UMLS:C0018534 xref: UMLS:C0025589 xref: UMLS:C1269610 is_a: HP:0010212 ! Joint contractures of the hallux created_by: doelkens creation_date: 2009-06-02T01:45:34Z [Term] id: HP:0010218 name: Congenital vertical talus namespace: medical_genetics alt_id: HP:0001835 alt_id: HP:0004693 def: "This foot deformity is also known as rocker bottom feet (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." [HPO:curators] synonym: "'rocker bottom' feet" EXACT [] synonym: "'rocker-bottom' feet" EXACT [] synonym: "Congenital vertical talus" EXACT [] synonym: "congenital vertical talus, bilateral" NARROW [] synonym: "Rocker bottom feet" EXACT [] synonym: "Rocker-bottom feet" EXACT [] synonym: "Rockerbottom feet" EXACT [] xref: UMLS:C0238767 xref: UMLS:C0240912 xref: UMLS:C0431979 xref: UMLS:C1844713 is_a: HP:0001838 ! Vertical talus created_by: doelkens creation_date: 2009-06-04T04:48:32Z [Term] id: HP:0010219 name: structural foot deformity namespace: medical_genetics 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] xref: UMLS:C0016506 xref: UMLS:C0678594 is_a: HP:0001760 ! Abnormality of the feet created_by: doelkens creation_date: 2009-06-04T05:14:38Z [Term] id: HP:0010220 name: Abnormality of the epiphysis of the 2nd metacarpal namespace: medical_genetics def: "Any abnormality of the epiphysis of the second metacarpal bone." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0205436 xref: UMLS:C1269064 xref: UMLS:C1704258 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 namespace: medical_genetics 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] xref: UMLS:C0025526 xref: UMLS:C0205436 xref: UMLS:C1269064 xref: UMLS:C1841685 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 namespace: medical_genetics def: "Any abnormality of the epiphysis of the third metacarpal bone." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0205437 xref: UMLS:C1269064 xref: UMLS:C1704258 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 namespace: medical_genetics 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] xref: UMLS:C0025526 xref: UMLS:C0205437 xref: UMLS:C1269064 xref: UMLS:C1841685 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 namespace: medical_genetics def: "Any abnormality of the epiphysis of the 4th metacarpal bone." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0205438 xref: UMLS:C1269064 xref: UMLS:C1704258 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 namespace: medical_genetics 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] xref: UMLS:C0025526 xref: UMLS:C0205438 xref: UMLS:C1269064 xref: UMLS:C1841685 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 namespace: medical_genetics def: "Any abnormality of the epiphysis of the fifth metacarpal bone." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0025526 xref: UMLS:C0205439 xref: UMLS:C1269064 xref: UMLS:C1704258 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 namespace: medical_genetics 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] xref: UMLS:C0025526 xref: UMLS:C0205439 xref: UMLS:C1269064 xref: UMLS:C1841685 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 namespace: medical_genetics alt_id: HP:0009359 def: "Absence of one or more epiphyses of the phalanges fingers." [HPO:curators] synonym: "Absent epiphyses of the fingers" EXACT [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0332197 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics 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:curators] synonym: "Bracket epiphyses of the fingers" EXACT [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0179407 xref: UMLS:C0223792 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics alt_id: HP:0001175 alt_id: HP:0001207 alt_id: HP:0001242 alt_id: HP:0003766 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: "Conical phalangeal epiphyses" EXACT [] synonym: "Phalangeal cone-shaped epiphyses" EXACT [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0020696 xref: UMLS:C0222682 xref: UMLS:C0223792 xref: UMLS:C0328745 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1846954 xref: UMLS:C1859450 xref: UMLS:C1865037 is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010579 ! Cone-shaped epiphyses created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010231 name: Enlarged epiphyses of the phalanges of the hand namespace: medical_genetics 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:C0016129 xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1848495 xref: UMLS:C1865036 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 namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0185061 xref: UMLS:C0223792 xref: UMLS:C0332472 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1881708 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 namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1846449 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 namespace: medical_genetics 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:C0016129 xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1856911 xref: UMLS:C1857651 is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010583 ! Ivory epiphyses is_a: HP:0010660 ! Abnormality of the mineralisation and ossification of bones of the hand is_a: HP:0011001 ! Increased bone mineral density created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010235 name: Pseudoepiphyses of the phalanges of the hand namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1841685 is_a: HP:0004288 ! Pseudoepiphyses of hand bones is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010656 ! Abnormality of the mineralisation or ossification of the epiphyses created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010236 name: Small epiphyses of the phalanges of the hand namespace: medical_genetics 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 [] xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1846803 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: Stippling of the epiphyses of the phalanges of the hand namespace: medical_genetics alt_id: HP:0009368 def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of phalanges of the fingers." [HPO:curators] synonym: "Stippling of the epiphyses of the fingers" EXACT [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0223792 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1979978 is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0010655 ! Stippling of the epiphyses is_a: HP:0010656 ! Abnormality of the mineralisation or ossification of the epiphyses is_a: HP:0010660 ! Abnormality of the mineralisation and ossification of bones of the hand created_by: doelkens creation_date: 2009-07-06T03:31:52Z [Term] id: HP:0010238 name: Triangular epiphyses of the phalanges of the hand namespace: medical_genetics 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 [] xref: UMLS:C0014570 xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0205119 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0439097 xref: UMLS:C0522512 xref: UMLS:C0549188 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1705241 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 phalanges of the hand namespace: medical_genetics alt_id: HP:0005778 synonym: "Absent middle phalanges" EXACT [] synonym: "Missing middle phalanges" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1551393 xref: UMLS:C1552914 xref: UMLS:C1705492 xref: UMLS:C1862098 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:0010240 name: Hypoplasia of the middle phalanges of the hand namespace: medical_genetics alt_id: HP:0001208 alt_id: HP:0006068 synonym: "Brachymesophalangy" EXACT [] synonym: "Hypoplastic middle phalanges" EXACT [] synonym: "Hypoplastic middle phalanx" EXACT [] synonym: "Midphalangeal hypoplasia" EXACT [] synonym: "Short middle phalanges" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1834061 xref: UMLS:C1839317 xref: UMLS:C1843680 xref: UMLS:C1846950 is_a: HP:0009381 ! Hypoplastic/small fingers is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand is_a: HP:0009843 ! Aplasia/Hypoplasia of the middle phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:00:05Z [Term] id: HP:0010241 name: Hypoplasia of the proximal phalanges of the hand namespace: medical_genetics alt_id: HP:0006138 synonym: "Short proximal phalanges" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1860606 is_a: HP:0009381 ! Hypoplastic/small fingers is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand is_a: HP:0009851 ! Aplasia/Hypoplasia of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:00:44Z [Term] id: HP:0010242 name: Aplasia of the proximal phalanges of the hand namespace: medical_genetics alt_id: HP:0006102 synonym: "Absent proximal phalanges" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0205107 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 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 phalanges of the hand namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704258 is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0332197 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0010228 ! Absent epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010247 name: Bracket epiphyses of the distal phalanges of the hand namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0179407 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0010229 ! Bracket epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1865037 is_a: HP:0010230 ! Cone-shaped epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010249 name: Enlarged epiphyses of the distal phalanges of the hand namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1848495 is_a: HP:0010231 ! Enlarged epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0185061 xref: UMLS:C0332472 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1881708 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 phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010251 name: Irregular epiphyses of the distal phalanges of the hand namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1846449 is_a: HP:0010233 ! Irregular epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010252 name: Ivory epiphyses of the distal phalanges of the hand namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1856911 is_a: HP:0010234 ! Ivory epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010253 name: Pseudoepiphyses of the distal phalanges of the hand namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1841685 is_a: HP:0010235 ! Pseudoepiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010254 name: Small epiphyses of the distal phalanges of the hand namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1846803 is_a: HP:0010236 ! Small epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanges of the hand 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1979978 is_a: HP:0010237 ! Stippling of the epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010256 name: Triangular epiphyses of the distal phalanges of the hand namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0205119 xref: UMLS:C0576464 xref: UMLS:C1281583 xref: UMLS:C1552914 is_a: HP:0010238 ! Triangular epiphyses of the phalanges of the hand is_a: HP:0010243 ! Abnormality of the epiphyses of the distal phalanges of the hand created_by: doelkens creation_date: 2009-07-06T04:23:06Z [Term] id: HP:0010257 name: Absent epiphyses of the middle phalanges of the hand namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0332197 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0179407 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics alt_id: HP:0006033 synonym: "Cone-shaped epiphyses of middle phalanges" EXACT [] xref: UMLS:C0018563 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1865037 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 namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1848495 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 namespace: medical_genetics def: "Fragmented appearance of the epiphyses of the middle phalanges of the hand." [HPO:curators] xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0185061 xref: UMLS:C0332472 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1881708 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 namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1846449 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 namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1856911 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 created_by: doelkens creation_date: 2009-07-06T04:24:15Z [Term] id: HP:0010264 name: Pseudoepiphyses of the middle phalanges of the hand namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1841685 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 namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1846803 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1979978 is_a: HP:0010237 ! Stippling 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:0010267 name: Triangular epiphyses of the middle phalanges of the hand namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0205119 xref: UMLS:C0576463 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0332197 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0179407 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 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 namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1865037 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 namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1848495 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0185061 xref: UMLS:C0332472 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1881708 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 namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1846449 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 namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1856911 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 created_by: doelkens creation_date: 2009-07-06T04:25:12Z [Term] id: HP:0010275 name: Pseudoepiphyses of the proximal phalanges of the hand namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1841685 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 namespace: medical_genetics xref: UMLS:C0018563 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1846803 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 xref: UMLS:C1979978 is_a: HP:0010237 ! Stippling 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:0010278 name: Triangular epiphyses of the proximal phalanges of the hand namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0018563 xref: UMLS:C0205119 xref: UMLS:C0576462 xref: UMLS:C1281583 xref: UMLS:C1552914 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:0010279 name: Hyperplasia of the maxilla namespace: medical_genetics def: "Overgrowth of the maxilla." [HPO:curators] synonym: "Maxillary hyperplasia" EXACT [] xref: UMLS:C0020507 xref: UMLS:C0024947 xref: UMLS:C0240309 xref: UMLS:C1279060 xref: UMLS:C2239124 is_a: HP:0000326 ! Abnormality of the maxilla created_by: peter creation_date: 2009-07-12T09:45:36Z [Term] id: HP:0010280 name: Stomatitis namespace: medical_genetics def: "Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth." [HPO:curators] xref: UMLS:C0038362 is_a: HP:0000163 ! Abnormality of the oral cavity created_by: peter creation_date: 2009-07-12T09:48:56Z [Term] id: HP:0010281 name: Cleft of the lower lip namespace: medical_genetics def: "A gap in the lower lip." [HPO:curators] xref: UMLS:C0205242 xref: UMLS:C0458583 xref: UMLS:C1280389 is_a: HP:0000178 ! Abnormality of lower lip created_by: peter creation_date: 2009-07-12T09:50:34Z [Term] id: HP:0010282 name: Thin lower lip vermilion namespace: medical_genetics 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 is_a: HP:0000178 ! Abnormality of lower lip created_by: peter creation_date: 2009-07-12T10:17:22Z [Term] id: HP:0010283 name: Non-midline cleft of the upper lip namespace: medical_genetics def: "Clefting of the upper lip affecting the lateral portions of the upper lip rather than the midline/median region." [HPO:curators] xref: UMLS:C0205242 xref: UMLS:C0458582 xref: UMLS:C0549183 xref: UMLS:C1280388 xref: UMLS:C1412877 xref: UMLS:C1518422 xref: UMLS:C1660780 is_a: HP:0100335 ! Non-midline cleft lip created_by: peter creation_date: 2009-07-12T10:24:00Z [Term] id: HP:0010284 name: Intra-oral hyperpigmentation namespace: medical_genetics def: "Increased pigmentation, either focal or generalized, of the oral mucosa." [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. xref: UMLS:C0162834 xref: UMLS:C0442027 xref: UMLS:C1962962 is_a: HP:0100669 ! Abnormal pigmentation of oral cavity created_by: peter creation_date: 2009-07-12T10:33:11Z [Term] id: HP:0010285 name: Oral synechia namespace: medical_genetics 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. xref: UMLS:C0154933 xref: UMLS:C0334157 xref: UMLS:C0442027 is_a: HP:0000163 ! Abnormality of the oral cavity created_by: peter creation_date: 2009-07-12T10:37:03Z [Term] id: HP:0010286 name: Abnormality of the salivary glands namespace: medical_genetics def: "Any abnormality of the salivary glands, the exocrine glands that produce saliva." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0036093 xref: UMLS:C0036098 xref: UMLS:C0558830 xref: UMLS:C1704258 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 namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0038556 xref: UMLS:C0562235 xref: UMLS:C1704258 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 namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0038553 xref: UMLS:C1704258 xref: UMLS:C2240382 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 namespace: medical_genetics def: "A gap (cleft) affecting one of the alveolar ridges." [HPO:curators] xref: UMLS:C0205242 xref: UMLS:C0447411 xref: UMLS:C1318149 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 namespace: medical_genetics 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:C0018599 xref: UMLS:C0226901 xref: UMLS:C0543481 xref: UMLS:C0700374 xref: UMLS:C1278914 xref: UMLS:C1280390 xref: UMLS:C1398301 xref: UMLS:C1806781 xref: UMLS:C2239126 xref: UMLS:C2350002 is_a: HP:0000174 ! Abnormality of palate created_by: peter creation_date: 2009-07-12T11:28:44Z [Term] id: HP:0010291 name: Prominent palatine ridges namespace: medical_genetics 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. synonym: "Prominent lateral palatal ridges" EXACT [] synonym: "Prominent palatine folds" EXACT [] xref: UMLS:C0205093 xref: UMLS:C0205402 xref: UMLS:C0226908 xref: UMLS:C0700374 xref: UMLS:C1278914 xref: UMLS:C1947915 is_a: HP:0000174 ! Abnormality of palate created_by: peter creation_date: 2009-07-12T11:33:40Z [Term] id: HP:0010292 name: Absent uvula namespace: medical_genetics def: "Lack of the `uvula` (FMA:55022)." [pmid:19125428] comment: Sometimes accompanies a Submucous cleft palate, but this should be coded separately. xref: UMLS:C0266121 is_a: HP:0010293 ! Aplasia/Hypoplasia of the uvula created_by: peter creation_date: 2009-07-12T11:36:21Z [Term] id: HP:0010293 name: Aplasia/Hypoplasia of the uvula namespace: medical_genetics def: "Underdevelopment or absence of the `uvula` (FMA:55022)." [HPO:curators] xref: UMLS:C0042173 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0546037 xref: UMLS:C2077316 is_a: HP:0000172 ! Abnormality of the uvula created_by: peter creation_date: 2009-07-12T11:36:52Z [Term] id: HP:0010294 name: Palate fistula namespace: medical_genetics def: "A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate." [HPO:curators] xref: UMLS:C0016169 xref: UMLS:C0595812 xref: UMLS:C0700374 xref: UMLS:C1278914 is_a: HP:0000174 ! Abnormality of palate created_by: peter creation_date: 2009-07-12T11:39:52Z [Term] id: HP:0010295 name: Aplasia/Hypoplasia of the tongue namespace: medical_genetics def: "Absence or underdevelopment of the `tongue` (FMA:54640)." [HPO:curators] xref: UMLS:C0040408 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1278913 xref: UMLS:C2137027 is_a: HP:0000157 ! Abnormality of the tongue created_by: peter creation_date: 2009-07-12T11:41:04Z [Term] id: HP:0010296 name: Ankyloglossia namespace: medical_genetics 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. xref: UMLS:C0152415 is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0000190 ! Abnormality of oral frenula created_by: peter creation_date: 2009-07-12T11:44:22Z [Term] id: HP:0010297 name: Bifid tongue namespace: medical_genetics def: "`Tongue` (FMA:54640) 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. xref: UMLS:C0266111 is_a: HP:0000157 ! Abnormality of the tongue created_by: peter creation_date: 2009-07-12T11:47:28Z [Term] id: HP:0010298 name: Smooth tongue namespace: medical_genetics 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. xref: UMLS:C0241433 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 namespace: medical_genetics def: "Any abnormality of `dentin` (FMA:55628)." [HPO:curators] 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. xref: UMLS:C0000768 xref: UMLS:C0011429 xref: UMLS:C1704258 is_a: HP:0011061 ! Abnormality of dental structure created_by: peter creation_date: 2009-07-12T12:11:14Z [Term] id: HP:0010300 name: Abnormally low-pitched voice namespace: medical_genetics def: "An abnormally low-pitched voice." [HPO:curators] xref: UMLS:C0042939 xref: UMLS:C0137137 xref: UMLS:C0175681 xref: UMLS:C1299352 xref: UMLS:C1704634 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 namespace: medical_genetics def: "A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life." [HPO:curators] 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: "Neural tube defect" EXACT [] xref: UMLS:C0080178 is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0002143 ! Abnormality of the spinal cord created_by: peter creation_date: 2009-07-12T12:58:04Z [Term] id: HP:0010302 name: Spinal tumor namespace: medical_genetics def: "A cancerous or noncancerous growth that develops within or near the spinal cord or in the bones of the spine." [HPO:curators] xref: UMLS:C0037930 is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0010622 ! Neoplasia of the skeletal system created_by: peter creation_date: 2009-07-12T01:05:50Z [Term] id: HP:0010303 name: Abnormality of the spinal meninges namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0037938 xref: UMLS:C1704258 is_a: HP:0002143 ! Abnormality of the spinal cord created_by: peter creation_date: 2009-07-12T01:10:09Z [Term] id: HP:0010304 name: Spinal meningeal diverticulum namespace: medical_genetics def: "An outpouching of the spinal meninges." [HPO:curators] xref: UMLS:C0012817 xref: UMLS:C0521329 xref: UMLS:C0521400 xref: UMLS:C1546602 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 namespace: medical_genetics def: "Absence (aplasia) of the sacrum." [HPO:curators] xref: UMLS:C0036037 xref: UMLS:C1269542 xref: UMLS:C1689985 xref: UMLS:C2107118 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 namespace: medical_genetics def: "Reduced inferior to superior extent of the thorax." [HPO:curators] xref: UMLS:C0426789 is_a: HP:0000765 ! Abnormality of the thorax created_by: peter creation_date: 2009-07-12T02:13:42Z [Term] id: HP:0010307 name: Stridor namespace: medical_genetics def: "Stridor is a high pitched sound resulting from turbulent air flow in the upper airway." [HPO:curators] xref: UMLS:C0038450 is_a: HP:0002795 ! Functional respiratory abnormality created_by: peter creation_date: 2009-07-12T02:16:48Z [Term] id: HP:0010308 name: Asternia namespace: medical_genetics 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 namespace: medical_genetics def: "The sternal cleft is a rare congenital anomaly resulting from a fusion failure of the sternum." [HPO:curators] 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. xref: UMLS:C0265696 is_a: HP:0000766 ! Abnormality of the sternum created_by: peter creation_date: 2009-07-12T02:23:18Z [Term] id: HP:0010310 name: Chylothorax namespace: medical_genetics def: "Accumulation of excessive amounts of lymphatic fluid (chyle) in the pleural cavity." [HPO:curators] xref: UMLS:C0008733 xref: UMLS:C1962974 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 namespace: medical_genetics def: "Absence or underdevelopment of the breasts." [HPO:curators] xref: UMLS:C0006141 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 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 namespace: medical_genetics def: "The presence of `asymmetrical` (PATO:0000616) `breasts` (FMA:9601)." [HPO:probinson] xref: UMLS:C0006141 xref: UMLS:C0332514 is_a: HP:0000769 ! Abnormality of the breast created_by: peter creation_date: 2009-07-12T02:32:46Z [Term] id: HP:0010313 name: Breast hypertrophy namespace: medical_genetics def: "The presence of `hypertrophy` (MPATH:159) of the `breast` (FMA:9601)." [HPO:probinson] synonym: "Hypertrophy of the breasts" EXACT [] xref: UMLS:C0006141 xref: UMLS:C0020564 is_a: HP:0000769 ! Abnormality of the breast created_by: peter creation_date: 2009-07-12T02:34:30Z [Term] id: HP:0010314 name: Premature thelarche namespace: medical_genetics def: "Premature development of the breasts." [HPO:curators] xref: UMLS:C0425772 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 namespace: medical_genetics def: "Absence or underdevelopment of the `diaphragm` (FMA:13295)." [HPO:curators] xref: UMLS:C0011980 xref: UMLS:C0042241 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1279038 xref: UMLS:C1705367 xref: UMLS:C1705368 is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter creation_date: 2009-07-12T02:41:58Z [Term] id: HP:0010316 name: Ebstein's anomaly of the tricuspid valve namespace: medical_genetics def: "Ebstein's anomaly refers to an abnormally placed and deformed tricuspid valve characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet." [HPO:curators] 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: UMLS:C0000768 xref: UMLS:C0013481 xref: UMLS:C0040960 xref: UMLS:C1269006 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 namespace: medical_genetics def: "Absence of the scapulae." [HPO:curators] xref: UMLS:C0036277 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1281575 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 namespace: medical_genetics def: "Absence or underdevelopment of the `abdominal musculature` (FMA:86917)." [HPO:curators] xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0677535 xref: UMLS:C0836916 xref: UMLS:C1269041 xref: UMLS:C1995013 xref: UMLS:C2334342 is_a: HP:0010991 ! Abnormality of the abdominal musculature created_by: peter creation_date: 2009-07-14T11:51:46Z [Term] id: HP:0010319 name: Abnormality of the 2nd toe namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C1281589 xref: UMLS:C1704258 is_a: HP:0001780 ! Abnormality of the toes created_by: doelkens creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010320 name: Abnormality of the 3rd toe namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C1281589 xref: UMLS:C1704258 is_a: HP:0001780 ! Abnormality of the toes created_by: doelkens creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010321 name: Abnormality of the 4th toe namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205438 xref: UMLS:C1281589 xref: UMLS:C1704258 is_a: HP:0001780 ! Abnormality of the toes created_by: doelkens creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010322 name: Abnormality of the 5th toe namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205439 xref: UMLS:C1281589 xref: UMLS:C1704258 is_a: HP:0001780 ! Abnormality of the toes created_by: doelkens creation_date: 2009-07-16T11:37:12Z [Term] id: HP:0010323 name: Abnormality of the epiphyses of the 2nd toe namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C1281589 xref: UMLS:C1704258 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 the phalanges of the 2nd toe namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C1281589 xref: UMLS:C1704258 is_a: HP:0010161 ! Abnormality of the phalanges 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:0010325 name: Aplasia/Hypoplasia of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1281589 is_a: HP:0010319 ! Abnormality of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010326 name: Deviation/Displacement of the 2nd toe namespace: medical_genetics xref: UMLS:C0012725 xref: UMLS:C0012727 xref: UMLS:C0040357 xref: UMLS:C0205419 xref: UMLS:C0205436 xref: UMLS:C0456080 xref: UMLS:C1281589 xref: UMLS:C1705236 xref: UMLS:C2347509 is_a: HP:0010319 ! Abnormality of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010327 name: Joint contractures of the 2nd toe namespace: medical_genetics xref: UMLS:C0009918 xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C1281589 is_a: HP:0001836 ! Camptodactyly (feet) is_a: HP:0010319 ! Abnormality of the 2nd toe is_a: HP:0200027 ! contractures of the toes created_by: doelkens creation_date: 2009-07-16T11:40:18Z [Term] id: HP:0010328 name: Polydactyly affecting the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0152427 xref: UMLS:C0205436 xref: UMLS:C0392760 xref: UMLS:C1281589 xref: UMLS:C1314939 xref: UMLS:C2117329 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C1281589 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C1281589 xref: UMLS:C1704258 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 namespace: medical_genetics alt_id: HP:0008100 synonym: "Absent/hypoplastic third toe" EXACT [] xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1261101 xref: UMLS:C1281589 is_a: HP:0001991 ! Aplasia/Hypoplasia 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:0010332 name: Deviation/Displacement of the 3rd toe namespace: medical_genetics xref: UMLS:C0012725 xref: UMLS:C0012727 xref: UMLS:C0040357 xref: UMLS:C0205419 xref: UMLS:C0205437 xref: UMLS:C0456080 xref: UMLS:C1281589 xref: UMLS:C1705236 xref: UMLS:C2347509 is_a: HP:0010320 ! Abnormality of the 3rd toe created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010333 name: Joint contractures of the 3rd toe namespace: medical_genetics xref: UMLS:C0009918 xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C1281589 is_a: HP:0001836 ! Camptodactyly (feet) is_a: HP:0010320 ! Abnormality of the 3rd toe is_a: HP:0200027 ! contractures of the toes created_by: doelkens creation_date: 2009-07-16T11:40:52Z [Term] id: HP:0010334 name: Polydactyly affecting the 3rd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0152427 xref: UMLS:C0205437 xref: UMLS:C0392760 xref: UMLS:C1281589 xref: UMLS:C1314939 xref: UMLS:C2117329 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0040357 xref: UMLS:C0205438 xref: UMLS:C1281589 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C1281589 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205438 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1281589 is_a: HP:0010321 ! Abnormality of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010338 name: Deviation/Displacement of the 4th toe namespace: medical_genetics xref: UMLS:C0012725 xref: UMLS:C0012727 xref: UMLS:C0040357 xref: UMLS:C0205419 xref: UMLS:C0205438 xref: UMLS:C0456080 xref: UMLS:C1281589 xref: UMLS:C1705236 xref: UMLS:C2347509 is_a: HP:0010321 ! Abnormality of the 4th toe created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010339 name: Joint contractures of the 4th toe namespace: medical_genetics xref: UMLS:C0009918 xref: UMLS:C0040357 xref: UMLS:C0205438 xref: UMLS:C1281589 is_a: HP:0001836 ! Camptodactyly (feet) is_a: HP:0010321 ! Abnormality of the 4th toe is_a: HP:0200027 ! contractures of the toes created_by: doelkens creation_date: 2009-07-16T11:41:21Z [Term] id: HP:0010340 name: Polydactyly affecting the 4th toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0152427 xref: UMLS:C0205438 xref: UMLS:C0392760 xref: UMLS:C1281589 xref: UMLS:C1314939 xref: UMLS:C2117329 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0040357 xref: UMLS:C0205439 xref: UMLS:C1281589 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C1281589 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205439 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1281589 is_a: HP:0010322 ! Abnormality of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010344 name: Deviation/Displacement of the 5th toe namespace: medical_genetics xref: UMLS:C0012725 xref: UMLS:C0012727 xref: UMLS:C0040357 xref: UMLS:C0205419 xref: UMLS:C0205439 xref: UMLS:C0456080 xref: UMLS:C1281589 xref: UMLS:C1705236 xref: UMLS:C2347509 is_a: HP:0010322 ! Abnormality of the 5th toe created_by: doelkens creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010345 name: Joint contractures of the 5th toe namespace: medical_genetics xref: UMLS:C0009918 xref: UMLS:C0040357 xref: UMLS:C0205439 xref: UMLS:C1281589 is_a: HP:0001836 ! Camptodactyly (feet) is_a: HP:0010322 ! Abnormality of the 5th toe is_a: HP:0200027 ! contractures of the toes created_by: doelkens creation_date: 2009-07-16T11:41:49Z [Term] id: HP:0010347 name: Aplasia/Hypoplasia of the phalanges of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1281589 is_a: HP:0010173 ! Aplasia/Hypoplasia of the phalanges of the toes is_a: HP:0010324 ! Abnormality of the phalanges 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C1281589 xref: UMLS:C1842230 is_a: HP:0010174 ! Broad phalanges of the toes is_a: HP:0010324 ! Abnormality of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010349 name: Bullet-shaped phalanges of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C1281589 xref: UMLS:C1706207 is_a: HP:0010175 ! Bullet-shaped phalanges of the toes is_a: HP:0010324 ! Abnormality of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010350 name: Curved phalanges of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205134 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C1281589 is_a: HP:0010176 ! Curved phalanges of the toes is_a: HP:0010324 ! Abnormality of the phalanges 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0243067 xref: UMLS:C1281589 xref: UMLS:C1518633 is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes is_a: HP:0010324 ! Abnormality of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010352 name: Patchy sclerosis of the phalanges of the 2nd toe namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0040357 xref: UMLS:C0205413 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C1281589 is_a: HP:0010178 ! Patchy sclerosis of the phalanges of the toes is_a: HP:0010324 ! Abnormality of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010353 name: Symphalangism affecting the phalanges of the 2nd toe namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0392760 xref: UMLS:C1281589 xref: UMLS:C1314939 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0010324 ! Abnormality of the phalanges 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205119 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1281589 is_a: HP:0010180 ! Triangular shaped phalanges of the toes is_a: HP:0010324 ! Abnormality of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010355 name: Partial/complete duplication of the phalanges of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1281589 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010181 ! Partial/complete duplication of the phalanges of the toes is_a: HP:0010324 ! Abnormality of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T11:45:34Z [Term] id: HP:0010356 name: Abnormality of the distal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0576464 xref: UMLS:C1281589 xref: UMLS:C1704258 is_a: HP:0010182 ! Abnormality of the distal phalanges of the toes is_a: HP:0010324 ! Abnormality of the phalanges 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C1281589 xref: UMLS:C1704258 is_a: HP:0010183 ! Abnormality of the middle phalanges of the toes is_a: HP:0010324 ! Abnormality of the phalanges 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0576462 xref: UMLS:C1281589 xref: UMLS:C1704258 is_a: HP:0010184 ! Abnormality of the proximal phalanges of the toes is_a: HP:0010324 ! Abnormality of the phalanges 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1281589 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C1281589 xref: UMLS:C1842230 is_a: HP:0010174 ! Broad 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:0010361 name: Bullet-shaped phalanges of the 3rd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C1281589 xref: UMLS:C1706207 is_a: HP:0010175 ! Bullet-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:0010362 name: Curved phalanges of the 3rd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205134 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C1281589 is_a: HP:0010176 ! Curved 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:0010363 name: Osteolytic defects of the phalanges of the 3rd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0243067 xref: UMLS:C1281589 xref: UMLS:C1518633 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 the phalanges of the 3rd toe namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0040357 xref: UMLS:C0205413 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C1281589 is_a: HP:0010178 ! Patchy sclerosis 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:0010365 name: Symphalangism affecting the phalanges of the 3rd toe namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0392760 xref: UMLS:C1281589 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205119 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1281589 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: Partial/complete duplication of the phalanges of the 3rd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0205437 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1281589 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010181 ! Partial/complete duplication 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:0010368 name: Abnormality of the distal phalanx of the 3rd toe namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C0576464 xref: UMLS:C1281589 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C0576463 xref: UMLS:C1281589 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205437 xref: UMLS:C0576462 xref: UMLS:C1281589 xref: UMLS:C1704258 is_a: HP:0010184 ! Abnormality of the proximal 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:0010371 name: Aplasia/Hypoplasia of the phalanges of the 4th toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1281589 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205438 xref: UMLS:C1281589 xref: UMLS:C1842230 is_a: HP:0010174 ! Broad 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:0010373 name: Bullet-shaped phalanges of the 4th toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C1281589 xref: UMLS:C1706207 is_a: HP:0010175 ! Bullet-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:0010374 name: Curved phalanges of the 4th toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205134 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C1281589 is_a: HP:0010176 ! Curved 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:0010375 name: Osteolytic defects of the phalanges of the 4th toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0243067 xref: UMLS:C1281589 xref: UMLS:C1518633 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 the phalanges of the 4th toe namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0040357 xref: UMLS:C0205413 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C1281589 is_a: HP:0010178 ! Patchy sclerosis 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:0010377 name: Symphalangism affecting the phalanges of the 4th toe namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0392760 xref: UMLS:C1281589 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205119 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1281589 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: Partial/complete duplication of the phalanges of the 4th toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0205438 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1281589 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010181 ! Partial/complete duplication 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:0010380 name: Abnormality of the distal phalanx of the 4th toe namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205438 xref: UMLS:C0576464 xref: UMLS:C1281589 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205438 xref: UMLS:C0576463 xref: UMLS:C1281589 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205438 xref: UMLS:C0576462 xref: UMLS:C1281589 xref: UMLS:C1704258 is_a: HP:0010184 ! Abnormality of the proximal 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:0010383 name: Aplasia/Hypoplasia of the phalanges of the 5th toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1281589 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205439 xref: UMLS:C1281589 xref: UMLS:C1842230 is_a: HP:0010174 ! Broad 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:0010385 name: Bullet-shaped phalanges of the 5th toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C1281589 xref: UMLS:C1706207 is_a: HP:0010175 ! Bullet-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:0010386 name: Curved phalanges of the 5th toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205134 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C1281589 is_a: HP:0010176 ! Curved 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:0010387 name: Osteolytic defects of the phalanges of the 5th toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0243067 xref: UMLS:C1281589 xref: UMLS:C1518633 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 the phalanges of the 5th toe namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0040357 xref: UMLS:C0205413 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C1281589 is_a: HP:0010178 ! Patchy sclerosis 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:0010389 name: Symphalangism affecting the phalanges of the 5th toe namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0392760 xref: UMLS:C1281589 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205119 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1281589 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: Partial/complete duplication of the phalanges of the 5th toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0205439 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1281589 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010181 ! Partial/complete duplication 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:0010392 name: Abnormality of the distal phalanx of the 5th toe namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205439 xref: UMLS:C0576464 xref: UMLS:C1281589 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205439 xref: UMLS:C0576463 xref: UMLS:C1281589 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0040357 xref: UMLS:C0205439 xref: UMLS:C0576462 xref: UMLS:C1281589 xref: UMLS:C1704258 is_a: HP:0010184 ! Abnormality of the proximal 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:0010395 name: Aplasia/Hypoplasia of the proximal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C1281589 is_a: HP:0010203 ! Aplasia/Hypoplasia of the proximal 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: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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0332464 xref: UMLS:C0576462 xref: UMLS:C1281589 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C1281589 xref: UMLS:C1706207 is_a: HP:0010205 ! Bullet-shaped proximal phalanges of the toes is_a: HP:0010349 ! Bullet-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:0010398 name: Curved proximal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205134 xref: UMLS:C0205436 xref: UMLS:C0576462 xref: UMLS:C1281589 is_a: HP:0010350 ! Curved 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:0010399 name: Osteolytic defects of the proximal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0243067 xref: UMLS:C0576462 xref: UMLS:C1281589 xref: UMLS:C1518633 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 namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0040357 xref: UMLS:C0205413 xref: UMLS:C0205436 xref: UMLS:C0576462 xref: UMLS:C1281589 is_a: HP:0010352 ! Patchy sclerosis 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:0010401 name: Symphalangism affecting the proximal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0392760 xref: UMLS:C0576462 xref: UMLS:C1281589 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205119 xref: UMLS:C0205436 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576462 xref: UMLS:C1281589 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: Partial/complete duplication of the proximal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1281589 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010328 ! Polydactyly affecting the 2nd toe is_a: HP:0010355 ! Partial/complete duplication 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:0010404 name: Aplasia/Hypoplasia of the middle phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576463 xref: UMLS:C1281589 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0332464 xref: UMLS:C0576463 xref: UMLS:C1281589 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C1281589 xref: UMLS:C1706207 is_a: HP:0010349 ! Bullet-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:0010407 name: Curved middle phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205134 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C1281589 is_a: HP:0010350 ! Curved 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:0010408 name: Osteolytic defects of the middle phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0243067 xref: UMLS:C0576463 xref: UMLS:C1281589 xref: UMLS:C1518633 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 namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0040357 xref: UMLS:C0205413 xref: UMLS:C0205436 xref: UMLS:C0576463 xref: UMLS:C1281589 is_a: HP:0010352 ! Patchy sclerosis 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:0010410 name: Symphalangism affecting the middle phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0392760 xref: UMLS:C0576463 xref: UMLS:C1281589 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205119 xref: UMLS:C0205436 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C0576463 xref: UMLS:C1281589 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: Partial/complete duplication of the middle phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1281589 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010328 ! Polydactyly affecting the 2nd toe is_a: HP:0010355 ! Partial/complete duplication 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:0010413 name: Aplasia/Hypoplasia of the distal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C1281589 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C1281589 xref: UMLS:C1850630 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0332479 xref: UMLS:C0336699 xref: UMLS:C0522512 xref: UMLS:C0576464 xref: UMLS:C1281589 xref: UMLS:C1706207 is_a: HP:0010349 ! Bullet-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:0010416 name: Curved distal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205134 xref: UMLS:C0205436 xref: UMLS:C0576464 xref: UMLS:C1281589 is_a: HP:0010350 ! Curved 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:0010417 name: Osteolytic defects of the distal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0243067 xref: UMLS:C0576464 xref: UMLS:C1281589 xref: UMLS:C1518633 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 namespace: medical_genetics xref: UMLS:C0036429 xref: UMLS:C0040357 xref: UMLS:C0205413 xref: UMLS:C0205436 xref: UMLS:C0576464 xref: UMLS:C1281589 is_a: HP:0010352 ! Patchy sclerosis 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:0010419 name: Symphalangism affecting the distal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0392760 xref: UMLS:C0576464 xref: UMLS:C1281589 xref: UMLS:C1314939 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C1281589 xref: UMLS:C1968591 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: Partial/complete duplication of the distal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C0728938 xref: UMLS:C1281589 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010328 ! Polydactyly affecting the 2nd toe is_a: HP:0010355 ! Partial/complete duplication 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:0010422 name: Complete duplication of the proximal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0725685 xref: UMLS:C1281589 xref: UMLS:C1705960 is_a: HP:0010403 ! Partial/complete duplication of the proximal phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576462 xref: UMLS:C0728938 xref: UMLS:C1281589 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010403 ! Partial/complete duplication of the proximal phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of the phalanges of the 2nd toe 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0725685 xref: UMLS:C1281589 xref: UMLS:C1705960 is_a: HP:0010421 ! Partial/complete duplication of the distal phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576464 xref: UMLS:C0728938 xref: UMLS:C1281589 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010421 ! Partial/complete duplication of the distal phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of the phalanges of the 2nd toe 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0725685 xref: UMLS:C1281589 xref: UMLS:C1705960 is_a: HP:0010412 ! Partial/complete duplication of the middle phalanx of the 2nd toe is_a: HP:0010429 ! Complete duplication of the phalanges of the 2nd toe 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 namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0332597 xref: UMLS:C0576463 xref: UMLS:C0728938 xref: UMLS:C1281589 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010412 ! Partial/complete duplication of the middle phalanx of the 2nd toe is_a: HP:0010428 ! Partial duplication of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T12:58:18Z [Term] id: HP:0010428 name: Partial duplication of the phalanges of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0728938 xref: UMLS:C1281589 xref: UMLS:C1550516 xref: UMLS:C1705960 is_a: HP:0010355 ! Partial/complete duplication of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T04:07:33Z [Term] id: HP:0010429 name: Complete duplication of the phalanges of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205197 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0332597 xref: UMLS:C0725685 xref: UMLS:C1281589 xref: UMLS:C1705960 is_a: HP:0010355 ! Partial/complete duplication of the phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T04:07:33Z [Term] id: HP:0010430 name: Aplasia of the phalanges of the 2nd toe namespace: medical_genetics alt_id: HP:0100361 xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1281589 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 fo the phalanges of the toes created_by: doelkens creation_date: 2009-07-16T04:27:29Z [Term] id: HP:0010431 name: Hypoplastic/small phalanges of the 2nd toe namespace: medical_genetics alt_id: HP:0100365 xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0223792 xref: UMLS:C0543481 xref: UMLS:C0700321 xref: UMLS:C1281589 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 fo the phalanges of the toes created_by: doelkens creation_date: 2009-07-16T04:27:29Z [Term] id: HP:0010432 name: Aplasia of the distal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576464 xref: UMLS:C1281589 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 created_by: doelkens creation_date: 2009-07-16T04:28:07Z [Term] id: HP:0010433 name: Hypoplastic/small distal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0543481 xref: UMLS:C0576464 xref: UMLS:C0700321 xref: UMLS:C1281589 is_a: HP:0010413 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd toe is_a: HP:0010431 ! Hypoplastic/small phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T04:28:07Z [Term] id: HP:0010434 name: Aplasia of the middle phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576463 xref: UMLS:C1281589 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: Hypoplastic/small middle phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0543481 xref: UMLS:C0576463 xref: UMLS:C0700321 xref: UMLS:C1281589 is_a: HP:0010404 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd toe is_a: HP:0010431 ! Hypoplastic/small phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T04:28:48Z [Term] id: HP:0010436 name: Aplasia of the proximal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576462 xref: UMLS:C1281589 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: Hypoplastic/small proximal phalanx of the 2nd toe namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0205436 xref: UMLS:C0543481 xref: UMLS:C0576462 xref: UMLS:C0700321 xref: UMLS:C1281589 is_a: HP:0010395 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd toe is_a: HP:0010431 ! Hypoplastic/small phalanges of the 2nd toe created_by: doelkens creation_date: 2009-07-16T04:29:25Z [Term] id: HP:0010438 name: Abnormality of the ventricular septum namespace: medical_genetics alt_id: HP:0001628 def: "An abnormality of the `interventricular septum` (FMA:7133)." [HPO:probinson] synonym: "Ventricular septum abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0018818 xref: UMLS:C0225870 xref: UMLS:C1704258 is_a: HP:0001671 ! Abnormality of the cardiac septa is_a: HP:0001713 ! Abnormality of the cardiac ventricle created_by: doelkens creation_date: 2009-07-27T11:59:56Z [Term] id: HP:0010439 name: Atrioventricular septal defect namespace: medical_genetics alt_id: HP:0005139 synonym: "Atrioventricular septal defect, partial" EXACT [] xref: UMLS:C0344783 xref: UMLS:C0728938 xref: UMLS:C1550516 is_a: HP:0001629 ! Ventricular septal defect is_a: HP:0001631 ! Atrial septal defect created_by: doelkens creation_date: 2009-07-28T06:46:12Z [Term] id: HP:0010440 name: Ectopic accesory toe-like appendage namespace: medical_genetics 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] xref: UMLS:C0040357 xref: UMLS:C0574895 xref: UMLS:C0598782 xref: UMLS:C1281589 is_a: HP:0001829 ! Polydactyly (feet) created_by: doelkens creation_date: 2009-07-29T01:23:02Z [Term] id: HP:0010441 name: Ectopic accesory finger-like appendage namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0574895 xref: UMLS:C0598782 xref: UMLS:C0851278 xref: UMLS:C0870814 xref: UMLS:C1281584 is_a: HP:0001161 ! Polydactyly (hands) created_by: doelkens creation_date: 2009-07-29T01:34:47Z [Term] id: HP:0010442 name: Polydactyly namespace: medical_genetics alt_id: HP:0006034 def: "A congenital anomaly characterized by the presence of supernumerary fingers or toes." [HPO:probinson] synonym: "Preaxial and/or postaxial polydactyly" EXACT [] xref: UMLS:C0152427 xref: UMLS:C0205110 xref: UMLS:C0220697 xref: UMLS:C2117329 is_a: HP:0002813 ! Abnormality of the extremities created_by: doelkens creation_date: 2009-07-29T01:39:27Z [Term] id: HP:0010443 name: Bifid femur namespace: medical_genetics def: "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." [HPO:probinson] xref: UMLS:C0015811 xref: UMLS:C0443152 xref: UMLS:C1279112 is_a: HP:0002823 ! Abnormality of the femur created_by: doelkens creation_date: 2009-07-29T04:29:30Z [Term] id: HP:0010444 name: Pulmonary insufficiency namespace: medical_genetics 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 xref: UMLS:C0042300 is_a: HP:0001641 ! Abnormality of the pulmonary valve created_by: peter creation_date: 2009-09-14T09:54:12Z [Term] id: HP:0010445 name: Ostium primum atrial septal defect namespace: medical_genetics def: "An ostium primum atrial septal defect is located in the most anterior and inferior aspect of the atrial septum. The ostium primum refers to an anterior and inferior opening (ostium) within the septum primum, which divides the rudimentary atrium during fetal development. The ostium primum is normally sealed by fusion of the superior and inferior endocardial cushions around 5 weeks' gestation. Ostium primum defects result from a failure of the fusion of the embryologic endocardial cushion and septum primum." [HPO:curators] synonym: "Septum primum defect" EXACT [] xref: UMLS:C0225837 xref: UMLS:C0741296 xref: UMLS:C1457869 xref: UMLS:C1861101 is_a: HP:0001631 ! Atrial septal defect created_by: peter creation_date: 2009-09-14T09:59:38Z [Term] id: HP:0010446 name: Tricuspid stenosis namespace: medical_genetics def: "A narrowing of the orifice of the tricuspid valve of the heart." [HPO:curators] xref: UMLS:C0040963 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 namespace: medical_genetics def: "An abnormal connection between the epithelialised surface of the anal canal and the perianal skin." [HPO:curators] synonym: "Fistula in ano" EXACT [] xref: UMLS:C0205929 is_a: HP:0004378 ! Abnormality of the anus created_by: peter creation_date: 2009-09-14T10:16:39Z [Term] id: HP:0010448 name: Colonic atresia namespace: medical_genetics def: "A developmental defect resulting in complete obliteration of the lumen of the colon. That is, there is an abnormal closure of the tubular structure of the colon." [HPO:curator] xref: UMLS:C0266190 is_a: HP:0002250 ! Abnormality of the large intestine created_by: peter creation_date: 2009-09-14T10:23:09Z [Term] id: HP:0010449 name: Duodenal stenosis namespace: medical_genetics def: "The narrowing or partial blockage of a portion of the duodenum." [HPO:curators] xref: UMLS:C0238093 is_a: HP:0002246 ! Abnormality of the duodenum created_by: peter creation_date: 2009-09-14T10:32:10Z [Term] id: HP:0010450 name: Esophageal stenosis namespace: medical_genetics def: "An abnormal narrowing of the lumen of the esophagus." [HPO:curators] xref: UMLS:C0014866 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 namespace: medical_genetics def: "Absence or underdevelopment of the `spleen` (FMA:7196)." [HPO:curators] xref: UMLS:C0037993 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1278932 xref: UMLS:C2228485 is_a: HP:0001743 ! Abnormality of the spleen created_by: peter creation_date: 2009-09-14T10:48:29Z [Term] id: HP:0010452 name: Ectopia of the spleen namespace: medical_genetics def: "An abnormal (non-anatomic) location of the `spleen` (FMA:7196)." [HPO:curators] synonym: "Ectopic spleen" EXACT [] xref: UMLS:C0008519 xref: UMLS:C0037993 xref: UMLS:C0266632 xref: UMLS:C0574895 xref: UMLS:C1278932 xref: UMLS:C1562630 xref: UMLS:C2228485 is_a: HP:0001743 ! Abnormality of the spleen created_by: peter creation_date: 2009-09-14T10:51:09Z [Term] id: HP:0010453 name: Pelvic asymmetry namespace: medical_genetics 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:curators] xref: UMLS:C0030797 xref: UMLS:C0332514 is_a: HP:0002644 ! Abnormality of the pelvis created_by: peter creation_date: 2009-09-14T11:01:50Z [Term] id: HP:0010454 name: Acetabular spurs namespace: medical_genetics def: "The presence of osteophytes (bone spurs), i.e., of bony projections originating from the acetabulum." [HPO:curators] xref: UMLS:C0000962 xref: UMLS:C0222032 xref: UMLS:C1279100 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 roofs namespace: medical_genetics xref: UMLS:C0000962 xref: UMLS:C0557685 xref: UMLS:C1279100 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 namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C1235660 xref: UMLS:C1704243 xref: UMLS:C1704258 is_a: HP:0002644 ! Abnormality of the pelvis created_by: peter creation_date: 2009-09-15T08:14:32Z [Term] id: HP:0010457 name: Widening of the sacrosciatic notch namespace: medical_genetics def: "Abnormally increased width of the greater sacrosciatic notch." [HPO:curators] xref: UMLS:C0332464 xref: UMLS:C1235660 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 namespace: medical_genetics 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 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 namespace: medical_genetics 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 [] xref: UMLS:C0150312 xref: UMLS:C0205070 xref: UMLS:C0266361 xref: UMLS:C0405581 xref: UMLS:C0449450 xref: UMLS:C1518744 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 namespace: medical_genetics def: "Abnormality of the `female genital system` (FMA:45663)." [HPO:probinson] comment: Abnormality of the female internal or external genitalia. xref: UMLS:C0000768 xref: UMLS:C0017421 xref: UMLS:C1704258 is_a: HP:0000078 ! Abnormality of the genital system created_by: peter creation_date: 2009-09-15T08:32:09Z [Term] id: HP:0010461 name: Abnormality of the male genitalia namespace: medical_genetics def: "Abnormality of the `male genital system` (FMA:45664)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0017422 xref: UMLS:C1704258 is_a: HP:0000078 ! Abnormality of the genital system created_by: peter creation_date: 2009-09-15T08:33:20Z [Term] id: HP:0010462 name: Aplasia/Hypoplasia of the ovary namespace: medical_genetics def: "`Aplasia` (MPATH:58) or developmental hypoplasia of the `ovary` (FMA:7209)." [HPO:probinson] xref: UMLS:C0029939 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 is_a: HP:0000137 ! Abnormality of the ovary created_by: peter creation_date: 2009-09-15T08:38:35Z [Term] id: HP:0010463 name: Aplasia of the ovary namespace: medical_genetics def: "`Aplasia` (MPATH:58), that is failure to develop, of the `ovary` (FMA:7209)." [HPO:probinson] synonym: "Aplasia of the ovaries" RELATED [] xref: UMLS:C0029939 xref: UMLS:C0243065 xref: UMLS:C0334079 is_a: HP:0010462 ! Aplasia/Hypoplasia of the ovary created_by: peter creation_date: 2009-09-15T08:40:06Z [Term] id: HP:0010464 name: Streak ovary namespace: medical_genetics 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 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 namespace: medical_genetics def: "The onset of puberty before the age of 8 years in girls." [HPO:curators] xref: UMLS:C0015780 xref: UMLS:C0034013 xref: UMLS:C0086287 is_a: HP:0000826 ! Precocious puberty created_by: peter creation_date: 2009-09-15T08:48:42Z [Term] id: HP:0010466 name: Delayed puberty in females namespace: medical_genetics def: "This is diagnosed when a female has passed the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [HPO:curators] xref: UMLS:C0015780 xref: UMLS:C0034012 xref: UMLS:C0086287 is_a: HP:0000823 ! Delayed puberty created_by: peter creation_date: 2009-09-15T09:13:25Z [Term] id: HP:0010467 name: Delayed puberty in males namespace: medical_genetics def: "This is diagnosed when a male has passed the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [HPO:curators] xref: UMLS:C0024554 xref: UMLS:C0034012 xref: UMLS:C0086582 is_a: HP:0000823 ! Delayed puberty created_by: peter creation_date: 2009-09-15T09:25:18Z [Term] id: HP:0010468 name: Aplasia/Hypoplasia of the testes namespace: medical_genetics def: "Absence or underdevelopment of the testes." [HPO:curators] xref: UMLS:C0021358 xref: UMLS:C0039597 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 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 namespace: medical_genetics def: "Absence of the testes." [HPO:curators] xref: UMLS:C0021358 xref: UMLS:C0039597 xref: UMLS:C0243065 xref: UMLS:C0334079 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 namespace: medical_genetics def: "The presence of more than two testes." [HPO:curators] synonym: "Polyorchidism" EXACT [] xref: UMLS:C0021358 xref: UMLS:C0039597 xref: UMLS:C0266430 xref: UMLS:C1883702 is_a: HP:0000035 ! Abnormality of the testis created_by: peter creation_date: 2009-09-15T09:34:18Z [Term] id: HP:0010471 name: Oligosacchariduria namespace: medical_genetics 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:curators] is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis created_by: peter creation_date: 2009-09-15T09:48:34Z [Term] id: HP:0010472 name: Abnormality of the heme biosynthetic pathway namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0018966 xref: UMLS:C1704258 xref: UMLS:C1721101 is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2009-09-15T09:53:11Z [Term] id: HP:0010473 name: Porphyrinuria namespace: medical_genetics def: "Abnormal urinary porphyrin excretion." [HPO:curators] xref: UMLS:C0151861 is_a: HP:0010472 ! Abnormality of the heme biosynthetic pathway created_by: peter creation_date: 2009-09-15T09:57:34Z [Term] id: HP:0010474 name: Bladder stones namespace: medical_genetics def: "Buildups of minerals that form in the urinary bladder." [HPO:curators] xref: UMLS:C0005683 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 namespace: medical_genetics 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:curators] xref: UMLS:C0345217 is_a: HP:0000014 ! Abnormality of the bladder is_a: HP:0004298 ! Abnormality of the abdominal wall is_a: HP:0100548 ! Exstrophy of gastrointestinal and/or genitourinary organs created_by: peter creation_date: 2009-09-15T10:08:32Z [Term] id: HP:0010476 name: Aplasia/Hypoplasia of the bladder namespace: medical_genetics def: "Absence or underdevelopment of the `urinary bladder` (FMA:15900)." [HPO:probinson] xref: UMLS:C0005682 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1281573 is_a: HP:0000014 ! Abnormality of the bladder created_by: peter creation_date: 2009-09-15T10:09:48Z [Term] id: HP:0010477 name: Aplasia of the bladder namespace: medical_genetics def: "Aplasia (absence) of the `urinary bladder` (FMA:15900)." [HPO:probinson] xref: UMLS:C0005682 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1281573 is_a: HP:0010476 ! Aplasia/Hypoplasia of the bladder created_by: peter creation_date: 2009-09-15T10:10:19Z [Term] id: HP:0010478 name: Abnormality of the urachus namespace: medical_genetics def: "Abnormality of the `urachus` (FMA:70343)." [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. xref: UMLS:C0000768 xref: UMLS:C0041916 xref: UMLS:C1269550 xref: UMLS:C1704258 is_a: HP:0000014 ! Abnormality of the bladder created_by: peter creation_date: 2009-09-15T10:13:04Z [Term] id: HP:0010479 name: Patent urachus namespace: medical_genetics def: "Persistence of the urachal canal resulting in a canal between the bladder and the umbilicus." [HPO:curators] xref: UMLS:C0266357 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 namespace: medical_genetics def: "The presence of an abnormal connection between the urethra and another organ or the skin." [HPO:curators] xref: UMLS:C0041970 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 namespace: medical_genetics def: "The presence of an abnormal membrane obstructing the `urethra` (FMA:19667)." [HPO:probinson] xref: UMLS:C0266345 is_a: HP:0000796 ! Urethral obstruction created_by: peter creation_date: 2009-09-15T10:38:46Z [Term] id: HP:0010482 name: Acromelia of the upper limbs namespace: medical_genetics def: "Shortening of the arms predominantly affecting terminal parts of the arm in relation to the upper and middle limb segments." [HPO:curators] xref: UMLS:C1140618 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 namespace: medical_genetics def: "Amniotic constriction rings affecting the arms." [HPO:curators] xref: UMLS:C0002630 xref: UMLS:C0446516 xref: UMLS:C1166663 is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0009775 ! Amniotic bands created_by: peter creation_date: 2009-09-16T09:15:05Z [Term] id: HP:0010484 name: Hypertrophy of the upper limb namespace: medical_genetics def: "Abnormal increase in size of the upper limbs (due to an increase of the size of cells)." [HPO:curators] xref: UMLS:C0020564 xref: UMLS:C1140618 xref: UMLS:C1269078 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 namespace: medical_genetics def: "The ability of the elbow joint to move beyond its normal range of motion." [HPO:curators] xref: UMLS:C0013769 xref: UMLS:C0013770 xref: UMLS:C1305417 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 namespace: medical_genetics def: "An abnormality of the hypothenar eminence, i.e., of the muscles on the palm of the human hand that are below the little finger." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0230375 xref: UMLS:C1704258 is_a: HP:0001421 ! Abnormality of the musculature of the hand created_by: peter creation_date: 2009-09-16T10:38:43Z [Term] id: HP:0010487 name: Hypoplasia of the hypothenar eminence namespace: medical_genetics def: "Underdevelopment of the hypothenar eminence." [HPO:curators] xref: UMLS:C0230375 xref: UMLS:C0243069 xref: UMLS:C0543481 is_a: HP:0010486 ! Abnormality of the hypothenar eminence created_by: peter creation_date: 2009-09-16T10:40:18Z [Term] id: HP:0010488 name: Aplasia/Hypoplasia of the palmar creases namespace: medical_genetics def: "Absence or underdevelopment of the palmar creases." [HPO:curators] xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0424730 xref: UMLS:C0543481 is_a: HP:0010490 ! Abnormality of the palmar creases created_by: peter creation_date: 2009-09-16T10:53:24Z [Term] id: HP:0010489 name: Aplasia of the palmar creases namespace: medical_genetics def: "Absence of the palmar creases." [HPO:curators] xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0424730 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 namespace: medical_genetics def: "An abnormality of the creases of the palm of the hand." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0424730 xref: UMLS:C1704258 is_a: HP:0001018 ! Abnormal palmar dermatoglyphics created_by: peter creation_date: 2009-09-16T10:54:52Z [Term] id: HP:0010491 name: Amniotic constriction rings of digits namespace: medical_genetics def: "Annular constrictions around the digits resulting from amniotic strangs." [HPO:curators] synonym: "Digital constriction ring" EXACT [] xref: UMLS:C0002630 xref: UMLS:C0442015 xref: UMLS:C0582802 xref: UMLS:C1166663 xref: UMLS:C1883674 is_a: HP:0009775 ! Amniotic bands created_by: peter creation_date: 2009-09-16T11:08:16Z [Term] id: HP:0010492 name: Osseous syndactyly of the fingers namespace: medical_genetics 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] xref: UMLS:C0016129 xref: UMLS:C0158736 xref: UMLS:C0549188 is_a: HP:0006101 ! Finger syndactyly created_by: peter creation_date: 2009-09-16T11:20:38Z [Term] id: HP:0010493 name: Increased length of metacarpals namespace: medical_genetics def: "An abnormally increased length of the metacarpal bones." [HPO:curators] xref: UMLS:C0025526 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C1444754 xref: UMLS:C1706316 is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: peter creation_date: 2009-09-17T10:25:37Z [Term] id: HP:0010494 name: Acromelia involving the lower limbs namespace: medical_genetics def: "Shortening of the legs predominantly affecting terminal parts of the leg in relation to the upper and middle arm segments." [HPO:curators] xref: UMLS:C0023216 xref: UMLS:C1314939 is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs created_by: peter creation_date: 2009-09-17T11:04:51Z [Term] id: HP:0010495 name: Amniotic constriction rings of legs namespace: medical_genetics def: "Amniotic constriction rings affecting the legs." [HPO:curators] xref: UMLS:C0002630 xref: UMLS:C1140621 xref: UMLS:C1166663 is_a: HP:0002814 ! Abnormality of the lower limb is_a: HP:0009775 ! Amniotic bands created_by: peter creation_date: 2009-09-17T11:07:10Z [Term] id: HP:0010496 name: Hypertrophy of the lower limb namespace: medical_genetics def: "Abnormal increase in size of the lower limbs (due to an increase of the size of cells)." [HPO:curators] xref: UMLS:C0020564 xref: UMLS:C0023216 xref: UMLS:C1269079 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 namespace: medical_genetics def: "A developmental defect in which the legs are fused together." [HPO:curators] xref: UMLS:C0037205 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 namespace: medical_genetics def: "A developmental defect that occurs if the two halves of the patella fail to fuse in early childhood." [HPO:curators] xref: UMLS:C1533285 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 namespace: medical_genetics 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:C0030647 xref: UMLS:C0332768 xref: UMLS:C0998074 xref: UMLS:C1279123 xref: UMLS:C1839733 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 namespace: medical_genetics def: "The ability of the knee joint to move beyond its normal range of motion." [HPO:curators] xref: UMLS:C0022742 xref: UMLS:C0022745 xref: UMLS:C1283838 xref: UMLS:C1963703 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 namespace: medical_genetics def: "An abnormal limitation of knee joint mobility." [HPO:curators] xref: UMLS:C0022742 xref: UMLS:C0022745 xref: UMLS:C0425245 xref: UMLS:C0449295 xref: UMLS:C0449580 xref: UMLS:C1283838 xref: UMLS:C1963703 is_a: HP:0001376 ! Decreased mobility of joints 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 namespace: medical_genetics def: "A developmental defect with posteromedial fibular angulation." [HPO:curators] xref: UMLS:C0016068 xref: UMLS:C0544755 is_a: HP:0002979 ! Bowing of the legs is_a: HP:0002991 ! Abnormality of the fibula created_by: peter creation_date: 2009-09-19T09:45:18Z [Term] id: HP:0010503 name: Fibular duplication namespace: medical_genetics 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:curators] xref: UMLS:C0016068 xref: UMLS:C0332597 xref: UMLS:C1705960 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 namespace: medical_genetics def: "An abnormal increase in the length of the tibia." [HPO:curators] xref: UMLS:C0040184 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C1279118 xref: UMLS:C1444754 xref: UMLS:C1706316 is_a: HP:0002992 ! Abnormality of the tibia created_by: peter creation_date: 2009-09-19T09:46:37Z [Term] id: HP:0010505 name: Limitation of movement at ankles namespace: medical_genetics def: "An abnormal limitation of the mobility of the ankle joint." [HPO:curators] xref: UMLS:C0003086 xref: UMLS:C0026649 xref: UMLS:C0449295 is_a: HP:0003028 ! Abnormality of the ankles is_a: HP:0100022 ! Abnormality of movement created_by: peter creation_date: 2009-09-19T09:47:11Z [Term] id: HP:0010506 name: Abnormal plantar dermatoglyphics namespace: medical_genetics def: "An abnormality of dermatoglyphs on the toes and soles." [HPO:curators] synonym: "Abnormal dermatoglyphics on feet" EXACT [] xref: UMLS:C0011624 xref: UMLS:C0016504 xref: UMLS:C0205161 xref: UMLS:C0347981 xref: UMLS:C2347472 is_a: HP:0001760 ! Abnormality of the feet is_a: HP:0007477 ! Abnormal dermatoglyphics created_by: peter creation_date: 2009-09-19T09:47:44Z [Term] id: HP:0010507 name: Foot asymmetry namespace: medical_genetics def: "A difference in size or shape between the left and right foot." [HPO:curators] xref: UMLS:C0016504 xref: UMLS:C0332514 xref: UMLS:C0347981 xref: UMLS:C1281587 xref: UMLS:C2346504 xref: UMLS:C2348613 xref: UMLS:C2348704 is_a: HP:0001760 ! Abnormality of the feet created_by: peter creation_date: 2009-09-19T09:49:04Z [Term] id: HP:0010508 name: Metatarsus valgus namespace: medical_genetics 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 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 namespace: medical_genetics def: "Absence of the tarsal bones." [HPO:curators] synonym: "Absent tarsals" EXACT [] xref: UMLS:C0039316 xref: UMLS:C0243065 xref: UMLS:C0332197 xref: UMLS:C0334079 xref: UMLS:C1550316 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 namespace: medical_genetics def: "An ability of the toe joints to move beyond their normal range of motion." [HPO:curators] xref: UMLS:C0040356 xref: UMLS:C0549185 is_a: HP:0001780 ! Abnormality of the toes created_by: peter creation_date: 2009-09-19T10:15:12Z [Term] id: HP:0010511 name: Increased length of toes namespace: medical_genetics def: "The presence of abnormally long toes." [HPO:curators] synonym: "Long toes" EXACT [] xref: UMLS:C0040357 xref: UMLS:C0205166 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C1444754 xref: UMLS:C1706316 xref: UMLS:C1706317 is_a: HP:0001780 ! Abnormality of the toes created_by: peter creation_date: 2009-09-19T10:40:43Z [Term] id: HP:0010512 name: Adrenal calcification namespace: medical_genetics def: "Calcification within the `adrenal glands` (FMA:9604)." [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 is_a: HP:0000834 ! Abnormality of the adrenal glands is_a: HP:0010766 ! Ectopic calcifications created_by: peter creation_date: 2009-09-19T03:34:26Z [Term] id: HP:0010513 name: Pituitary calcification namespace: medical_genetics def: "Presence of calcification in the pituitary gland." [HPO:curators] xref: UMLS:C0006660 xref: UMLS:C0032005 xref: UMLS:C0175895 xref: UMLS:C0304812 xref: UMLS:C1533591 xref: UMLS:C1579308 xref: UMLS:C1579310 xref: UMLS:C1879982 is_a: HP:0000838 ! Abnormality of the pituitary gland is_a: HP:0002514 ! Cerebral calcification created_by: peter creation_date: 2009-09-19T04:09:21Z [Term] id: HP:0010514 name: Hyperpituitarism namespace: medical_genetics 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:curators] xref: UMLS:C0020506 is_a: HP:0000838 ! Abnormality of the pituitary gland created_by: peter creation_date: 2009-09-19T04:14:54Z [Term] id: HP:0010515 name: Aplasia/Hypoplasia of the thymus namespace: medical_genetics def: "Absence or underdevelopment of the `thymus` (FMA:9607)." [HPO:probinson] xref: UMLS:C0040112 xref: UMLS:C0040113 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1015036 is_a: HP:0000777 ! Abnormality of the thymus created_by: peter creation_date: 2009-09-19T04:21:24Z [Term] id: HP:0010516 name: Thymus hyperplasia namespace: medical_genetics def: "Enlargement of the `thymus` (FMA:9607)." [HPO:curators] xref: UMLS:C0040115 is_a: HP:0000777 ! Abnormality of the thymus created_by: peter creation_date: 2009-09-19T04:23:10Z [Term] id: HP:0010517 name: Ectopic thymus tissue namespace: medical_genetics def: "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." [HPO:curators] xref: UMLS:C0266638 is_a: HP:0000777 ! Abnormality of the thymus created_by: peter creation_date: 2009-09-19T04:30:35Z [Term] id: HP:0010518 name: Thyroglossal cyst namespace: medical_genetics def: "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)." [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. xref: UMLS:C0040124 is_a: HP:0000820 ! Abnormality of the thyroid gland created_by: peter creation_date: 2009-09-19T04:38:04Z [Term] id: HP:0010519 name: Increased fetal movement namespace: medical_genetics def: "An abnormal increase in quantity or strength of fetal movements." [HPO:curators] xref: UMLS:C0015946 xref: UMLS:C0205217 xref: UMLS:C0442805 xref: UMLS:C2207238 is_a: HP:0001557 ! Prenatal movement abnormality created_by: peter creation_date: 2009-09-20T10:44:15Z [Term] id: HP:0010520 name: Fetal seizure namespace: medical_genetics def: "Abnormal forceful, jerky, and periodic fetal movement can be associated with a fetal seizure. The seizures occur repeatedly, usually involving the whole fetal body, and at a frequency that varies from two movements/second in clonic convulsions to several times/minute in lightening convulsions. Suggested criteria for diagnosing fetal seizure are 1) a repetitive, episodic movement with a duration consistent with a seizure episode, and 2) a regularity of movement at a frequency consistent with that of seizure activity." [pmid:8841244] xref: UMLS:C0015965 xref: UMLS:C0036572 xref: UMLS:C0521457 xref: UMLS:C1959629 is_a: HP:0001250 ! Seizures is_a: HP:0010519 ! Increased fetal movement created_by: peter creation_date: 2009-09-20T10:44:46Z [Term] id: HP:0010521 name: Gait apraxia namespace: medical_genetics def: "Gait apraxia affecting the ability to make walking movements with the legs." [HPO:curators] xref: UMLS:C1510417 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 namespace: medical_genetics 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:curators] xref: UMLS:C0476254 is_a: HP:0002167 ! Neurological speech impairment created_by: peter creation_date: 2009-09-20T11:19:24Z [Term] id: HP:0010523 name: Alexia namespace: medical_genetics def: "An acquired type of sensory aphasia where damage to the brain leads to the loss of the ability to read." [HPO:curators] xref: UMLS:C0002018 xref: UMLS:C0476254 is_a: HP:0002167 ! Neurological speech impairment created_by: peter creation_date: 2009-09-20T11:27:07Z [Term] id: HP:0010524 name: Agnosia namespace: medical_genetics 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:curators] xref: UMLS:C0001816 is_a: HP:0002011 ! Abnormality of the central nervous system created_by: peter creation_date: 2009-09-20T11:33:03Z [Term] id: HP:0010525 name: Finger agnosia namespace: medical_genetics def: "An inability or difficulty differentiating among the fingers of either hand as well as the hands of others." [HPO:curators] xref: UMLS:C0234509 is_a: HP:0010524 ! Agnosia created_by: peter creation_date: 2009-09-20T11:37:33Z [Term] id: HP:0010526 name: Dysgraphia namespace: medical_genetics 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 is_a: HP:0002167 ! Neurological speech impairment created_by: peter creation_date: 2009-09-20T11:40:43Z [Term] id: HP:0010527 name: Astereognosia namespace: medical_genetics def: "Inability to recognize the form of objects by touch based on the texture, size, weight and three-dimensional form of the object in the absence of any major somatosensory deficit." [HPO:curators] synonym: "Somatosensory agnosia" EXACT [] xref: UMLS:C0234505 xref: UMLS:C0459888 is_a: HP:0010524 ! Agnosia created_by: peter creation_date: 2009-09-20T11:41:58Z [Term] id: HP:0010528 name: Prosopagnosia namespace: medical_genetics def: "Inability to recognize familial faces." [HPO:curators] synonym: "Face blindness" EXACT [] synonym: "Facial agnosia" EXACT [] xref: UMLS:C0001816 xref: UMLS:C0015450 xref: UMLS:C0234512 xref: UMLS:C0524465 xref: UMLS:C0751842 is_a: HP:0010524 ! Agnosia created_by: peter creation_date: 2009-09-20T11:45:49Z [Term] id: HP:0010529 name: Echolalia namespace: medical_genetics def: "The tendency to repeat vocalizations made by another person." [HPO:curators] xref: UMLS:C0013528 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality created_by: peter creation_date: 2009-09-20T08:17:27Z [Term] id: HP:0010530 name: Palatal myoclonus namespace: medical_genetics def: "Palatal myoclonus is characterized by myoclonic (rhythmic involuntary jerky) movements of the soft palate." [HPO:curators] xref: UMLS:C0030214 is_a: HP:0001336 ! Myoclonus created_by: peter creation_date: 2009-09-20T08:50:17Z [Term] id: HP:0010531 name: Spinal myoclonus namespace: medical_genetics 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] xref: UMLS:C0027066 xref: UMLS:C0521329 is_a: HP:0001336 ! Myoclonus created_by: peter creation_date: 2009-09-20T08:53:39Z [Term] id: HP:0010532 name: Paroxysmal vertigo namespace: medical_genetics def: "Paroxysmal episodes of vertigo." [HPO:curators] xref: UMLS:C0522357 is_a: HP:0002321 ! Vertigo created_by: peter creation_date: 2009-09-20T09:12:15Z [Term] id: HP:0010533 name: Spasmus nutans namespace: medical_genetics def: "A type of acquired nystagmus that usually occurs in children in the first years of life. Classically it is characterized by the combination of pendular nystagmus, head nodding, and torticollis." [HPO:curators] xref: UMLS:C1527306 is_a: HP:0000639 ! Nystagmus created_by: peter creation_date: 2009-09-20T09:19:57Z [Term] id: HP:0010534 name: Transient global amnesia namespace: medical_genetics 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 is_a: HP:0002354 ! Memory impairment created_by: peter creation_date: 2009-09-20T09:33:50Z [Term] id: HP:0010535 name: Sleep apnea namespace: medical_genetics 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: UMLS:C0037315 is_a: HP:0002104 ! Apnea created_by: peter creation_date: 2009-09-21T08:53:35Z [Term] id: HP:0010536 name: Central sleep apnea namespace: medical_genetics def: "Sleep apnea resulting from a transient abolition of the central drive to the ventilatory muscles." [HPO:curators] synonym: "Central sleep apnoea" EXACT [] xref: UMLS:C0520680 is_a: HP:0010535 ! Sleep apnea created_by: peter creation_date: 2009-09-21T08:57:02Z [Term] id: HP:0010537 name: Wide cranial sutures namespace: medical_genetics def: "An abnormally increased width of the cranial sutures for age-related norms (generally resulting from delayed closure)." [HPO:curators] synonym: "Open cranial sutures" EXACT [] synonym: "Persistent wide fontanel" EXACT [] synonym: "Widened cranial sutures" EXACT [] xref: UMLS:C0010272 xref: UMLS:C0175566 xref: UMLS:C0205322 xref: UMLS:C0410935 xref: UMLS:C0456132 xref: UMLS:C1142052 is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures created_by: peter creation_date: 2009-09-21T09:50:28Z [Term] id: HP:0010538 name: Small sella turcica namespace: medical_genetics def: "An abnormally small sella turcica." [HPO:curators] xref: UMLS:C0036609 xref: UMLS:C0700321 xref: UMLS:C1280694 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 namespace: medical_genetics def: "The presence of an abnormally thin calvarium." [HPO:curators] xref: UMLS:C1856231 is_a: HP:0002683 ! Abnormality of the calvarium created_by: peter creation_date: 2009-09-21T10:21:29Z [Term] id: HP:0010540 name: Advanced pneumatization of cranial sinuses namespace: medical_genetics def: "A degree of pneumatization that is increased compared to age-related norms." [HPO:curators] xref: UMLS:C0010271 xref: UMLS:C0205179 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 namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Cutis verticis gyrata" EXACT [] xref: UMLS:C0036270 xref: UMLS:C0263417 xref: UMLS:C1278997 xref: UMLS:C1852412 xref: UMLS:C2240381 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0001965 ! Abnormality of the scalp created_by: peter creation_date: 2009-09-23T10:15:33Z [Term] id: HP:0010542 name: Vestibular nystagmus namespace: medical_genetics def: "Nystagmus due to disturbance of the vestibular system; eye movements are rhythmic, with slow and fast components." [HPO:curators] xref: UMLS:C0155379 is_a: HP:0000639 ! Nystagmus is_a: HP:0009591 ! Abnormality of the eighth cranial nerve created_by: peter creation_date: 2009-09-23T10:38:28Z [Term] id: HP:0010543 name: Opsoclonus namespace: medical_genetics 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:curators] xref: UMLS:C0242567 is_a: HP:0000496 ! Abnormality of eye movement created_by: peter creation_date: 2009-09-23T10:40:51Z [Term] id: HP:0010544 name: Vertical nystagmus namespace: medical_genetics 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:curators] xref: UMLS:C0271386 is_a: HP:0000639 ! Nystagmus created_by: peter creation_date: 2009-09-23T10:45:18Z [Term] id: HP:0010545 name: Downbeat nystagmus namespace: medical_genetics def: "A type of vertical nystagmus that is present in the straight-ahead position of gaze." [HPO:curators] xref: UMLS:C0585544 is_a: HP:0010544 ! Vertical nystagmus created_by: peter creation_date: 2009-09-23T10:47:44Z [Term] id: HP:0010546 name: Muscle fibrillation namespace: medical_genetics 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:curators] xref: UMLS:C0231531 is_a: HP:0100022 ! Abnormality of movement created_by: peter creation_date: 2009-09-29T08:23:48Z [Term] id: HP:0010547 name: Muscle flaccidity namespace: medical_genetics 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 is_a: HP:0001324 ! Muscle weakness created_by: peter creation_date: 2009-09-29T09:21:45Z [Term] id: HP:0010548 name: Percussion myotonia namespace: medical_genetics 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:C0013604 xref: UMLS:C0026845 xref: UMLS:C0030987 xref: UMLS:C0038999 xref: UMLS:C0040704 xref: UMLS:C0205263 xref: UMLS:C0205374 xref: UMLS:C0751359 xref: UMLS:C1880282 is_a: HP:0002486 ! Myotonia is_a: HP:0003011 ! Abnormality of musculature created_by: peter creation_date: 2009-10-01T08:15:50Z [Term] id: HP:0010549 name: Paralysis due to lesions of the principle motor tracts namespace: medical_genetics 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:curators] xref: UMLS:C0221198 xref: UMLS:C0522224 xref: UMLS:C1185740 xref: UMLS:C1513492 xref: UMLS:C1705994 xref: UMLS:C2364097 is_a: HP:0002011 ! Abnormality of the central nervous system created_by: peter creation_date: 2009-10-01T08:30:25Z [Term] id: HP:0010550 name: Paraplegia namespace: medical_genetics def: "Severe or complete weakness of both lower extremities with sparing of the upper extremities." [HPO:curators] xref: UMLS:C0030486 is_a: HP:0010551 ! Paraplegia/paraparesis created_by: peter creation_date: 2009-10-01T08:32:57Z [Term] id: HP:0010551 name: Paraplegia/paraparesis namespace: medical_genetics 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] xref: UMLS:C0030486 xref: UMLS:C0221166 is_a: HP:0010549 ! Paralysis due to lesions of the principle motor tracts created_by: peter creation_date: 2009-10-01T08:36:05Z [Term] id: HP:0010552 name: Quadriplegia namespace: medical_genetics def: "Paralysis of all four extremities. 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 segements of the spinal cord." [HPO:curators] xref: UMLS:C0034372 is_a: HP:0010549 ! Paralysis due to lesions of the principle motor tracts created_by: peter creation_date: 2009-10-01T08:46:07Z [Term] id: HP:0010553 name: Oculogyric crisis namespace: medical_genetics 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 is_a: HP:0001332 ! Dystonia created_by: peter creation_date: 2009-10-01T08:56:39Z [Term] id: HP:0010554 name: Cutaneous syndactyly of the fingers namespace: medical_genetics alt_id: HP:0001214 alt_id: HP:0005637 alt_id: HP:0006054 alt_id: HP:0006220 def: "Webbing or fusion of the fingers involving soft parts only." [HPO:curators] synonym: "Cutaneous syndactyly" EXACT [] synonym: "Cutaneous syndactyly (hands)" EXACT [] synonym: "Partial cutaneous syndactyly" EXACT [] synonym: "Syndactyly, cutaneous" EXACT [] synonym: "Variable cutaneous syndactyly" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0018563 xref: UMLS:C0039075 xref: UMLS:C0221912 xref: UMLS:C0549188 xref: UMLS:C1522447 xref: UMLS:C1846072 xref: UMLS:C1861351 xref: UMLS:C1861921 xref: UMLS:C2117411 is_a: HP:0006101 ! Finger syndactyly created_by: sandra1 creation_date: 2009-10-07T10:59:57Z [Term] id: HP:0010557 name: Overlapping fingers namespace: medical_genetics def: "Overlapping of the fingers occuring as the result of a deviation of the fingers from their normal position." [HPO:curators] xref: UMLS:C1446712 is_a: HP:0004097 ! Deviated fingers created_by: sandra1 creation_date: 2009-10-13T09:21:52Z [Term] id: HP:0010558 name: Abnormality of the clivus namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0222724 xref: UMLS:C0228484 xref: UMLS:C1704258 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 namespace: medical_genetics 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 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 namespace: medical_genetics def: "An abnormally wavy surface or edge of the clavicles." [HPO:curators] synonym: "Wavy clavicles" EXACT [] xref: UMLS:C0008913 xref: UMLS:C0678544 xref: UMLS:C1421479 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 namespace: medical_genetics def: "An abnormally wavy surface or edge of the ribs." [HPO:curators] synonym: "Wavy ribs" EXACT [] xref: UMLS:C0035561 xref: UMLS:C1969185 is_a: HP:0000772 ! Abnormality of the ribs created_by: peter creation_date: 2009-10-14T09:56:07Z [Term] id: HP:0010562 name: Keloids namespace: medical_genetics 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] xref: UMLS:C0022548 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0000987 ! Atypical scarring created_by: peter creation_date: 2009-10-15T07:39:56Z [Term] id: HP:0010564 name: Bifid epiglottis namespace: medical_genetics def: "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." [HPO:curators] xref: UMLS:C0339864 is_a: HP:0005483 ! Abnormality of the epiglottis created_by: sandra1 creation_date: 2009-10-16T02:20:48Z [Term] id: HP:0010565 name: Aplasia/Hypoplasia of the Epiglottis namespace: medical_genetics def: "This term applies if the Epiglottis is absent or hypoplastic." [HPO:curators] xref: UMLS:C0014540 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1280360 xref: UMLS:C2228436 is_a: HP:0005483 ! Abnormality of the epiglottis created_by: sandra1 creation_date: 2009-10-16T02:27:31Z [Term] id: HP:0010566 name: Hamartoma namespace: medical_genetics 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: UMLS:C0018552 is_a: HP:0002664 ! Neoplasia created_by: sandra1 creation_date: 2009-10-16T02:51:16Z [Term] id: HP:0010567 name: Y-shaped metatarsals namespace: medical_genetics 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] xref: UMLS:C0025584 xref: UMLS:C0332479 xref: UMLS:C0522512 xref: UMLS:C1553022 is_a: HP:0001832 ! Abnormality of the metatarsal bones created_by: sandra1 creation_date: 2009-10-16T06:50:11Z [Term] id: HP:0010568 name: Hamartomas of the eye namespace: medical_genetics def: "A hamartoma (disordered proliferation of mature tissues) which can originate from any tissue of the eye." [HPO:curators] xref: UMLS:C0015392 xref: UMLS:C0018552 xref: UMLS:C1280202 is_a: HP:0000478 ! Abnormality of the eye is_a: HP:0010566 ! Hamartoma created_by: sandra1 creation_date: 2009-10-17T12:57:24Z [Term] id: HP:0010569 name: Elevated 7-dehydrocholesterol namespace: medical_genetics def: "Elevated `7-dehydrocholesterol` (CHEBI:17759) 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 [] xref: UMLS:C0011181 xref: UMLS:C0205250 is_a: HP:0003107 ! Abnormality of cholesterol metabolism created_by: sandra1 creation_date: 2009-10-19T08:49:58Z [Term] id: HP:0010570 name: Reduced maternal serum alpha-fetoprotein namespace: medical_genetics def: "An abnormal reduction in the concentration of serum alpha-fetoprotein as compared to normal values for gestational-age. Reduced levels of alpha-fetoprotein can be seen in some fetal disorders such as Down syndrome." [HPO:curators] xref: UMLS:C0373538 xref: UMLS:C0392756 xref: UMLS:C0546833 xref: UMLS:C1858460 is_a: HP:0001560 ! Abnormality of the amniotic fluid created_by: peter creation_date: 2009-10-20T07:01:24Z [Term] id: HP:0010571 name: Elevated levels of phytanic acid namespace: medical_genetics def: "An abnormal elevation of `phytanic acid` (CHEBI:16285)." [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. xref: UMLS:C0031851 xref: UMLS:C0205250 xref: UMLS:C0441889 is_a: HP:0010965 ! Abnormality of phytanic acid metabolism created_by: peter creation_date: 2009-10-20T07:19:29Z [Term] id: HP:0010574 name: Abnormality of the epiphysis of the femoral head namespace: medical_genetics alt_id: HP:0010589 def: "Any abnormality of the `proximal epiphysis of the femur` (FMA:32841)." [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 [] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0015813 xref: UMLS:C0223879 xref: UMLS:C1304926 xref: UMLS:C1704258 is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0006499 ! Abnormality of femoral epiphyses created_by: sandra1 creation_date: 2009-10-21T01:28:23Z [Term] id: HP:0010575 name: Dysplasia of the femoral head namespace: medical_genetics def: "The presence of `developmental dysplasia` (MPATH:64) of the `femoral head` (FMA:32851)." [HPO:probinson] synonym: "Dysplastic femoral head" EXACT [] xref: UMLS:C0015813 xref: UMLS:C0334045 is_a: HP:0003368 ! Abnormality of the femoral head created_by: sandra1 creation_date: 2009-10-21T01:30:40Z [Term] id: HP:0010576 name: Cystic malformations affecting the central nervous system namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0010709 xref: UMLS:C0205207 xref: UMLS:C0243070 xref: UMLS:C0392760 xref: UMLS:C0927232 xref: UMLS:C1269563 xref: UMLS:C1314939 is_a: HP:0002011 ! Abnormality of the central nervous system created_by: sandra1 creation_date: 2009-10-22T01:38:49Z [Term] id: HP:0010577 name: Absent epiphyses namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0332197 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0179407 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 epiphyses namespace: medical_genetics alt_id: HP:0000937 synonym: "Cone-shaped epiphyses" EXACT [] xref: UMLS:C1865037 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 namespace: medical_genetics alt_id: HP:0003018 alt_id: HP:0003055 synonym: "Enlarged epiphyses" EXACT [] synonym: "Large epiphyses" EXACT [] synonym: "Widened, distorted epiphyses" EXACT [] xref: UMLS:C0014570 xref: UMLS:C0332464 xref: UMLS:C0700135 xref: UMLS:C1848495 xref: UMLS:C1849230 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 namespace: medical_genetics alt_id: HP:0002765 alt_id: HP:0010581 synonym: "Fragmentation of the epiphyses" EXACT [] synonym: "Irregular epiphyses" EXACT [] xref: UMLS:C0014570 xref: UMLS:C0185061 xref: UMLS:C0332472 xref: UMLS:C1846449 xref: UMLS:C1881708 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 namespace: medical_genetics 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 is_a: HP:0005930 ! Abnormality of the epiphyses created_by: sandra1 creation_date: 2009-10-22T02:53:19Z [Term] id: HP:0010584 name: Pseudoepiphyses namespace: medical_genetics xref: UMLS:C1841685 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 namespace: medical_genetics alt_id: HP:0005730 synonym: "Small epiphyses" EXACT [] xref: UMLS:C1846803 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 namespace: medical_genetics xref: UMLS:C0014570 xref: UMLS:C0205119 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 namespace: medical_genetics xref: UMLS:C0205252 xref: UMLS:C0332466 xref: UMLS:C1293131 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 namespace: medical_genetics def: "Any abnormality of the `distal epiphysis of the femur` (FMA:32844)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C1305778 xref: UMLS:C1704258 is_a: HP:0006499 ! Abnormality of femoral epiphyses created_by: sandra1 creation_date: 2009-10-22T03:00:23Z [Term] id: HP:0010591 name: Abnormality of the proximal tibial epiphysis namespace: medical_genetics def: "Any abnormality of the proximal epiphysis of the tibia." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0459027 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0459012 xref: UMLS:C1704258 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 namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1282302 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Any abnormality of the proximal epiphysis of the fibula." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0459028 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Any abnormality of the distal epiphysis of the fibula." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0459013 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Any abnormality of the proximal epiphysis of the radius." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0223703 xref: UMLS:C1304901 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Any abnormality of the distal epiphysis of the radius." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0223704 xref: UMLS:C1304902 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Any abnormality of the proximal epiphysis of the humerus." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0588209 xref: UMLS:C1704258 is_a: HP:0003891 ! Abnormality of the humeral epiphyses created_by: sandra1 creation_date: 2009-10-22T06:40:29Z [Term] id: HP:0010599 name: Abnormality of the distal humeral epiphysis namespace: medical_genetics def: "Any abnormality of the distal epiphysis of the humerus." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0588211 xref: UMLS:C1704258 is_a: HP:0003891 ! Abnormality of the humeral epiphyses 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 namespace: medical_genetics def: "Any abnormality of the distal epiphysis of the ulna." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0459009 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Any abnormality of the proximal epiphysis of the ulna." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0459024 xref: UMLS:C1704258 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 namespace: medical_genetics def: "An abnormal predominance of type II muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:curators] synonym: "Type II muscle fiber predominance" EXACT [] xref: UMLS:C0242873 xref: UMLS:C0332251 is_a: HP:0004303 ! Abnormality of muscle fibers created_by: peter creation_date: 2009-10-25T09:56:24Z [Term] id: HP:0010603 name: Keratocysts of the jaw namespace: medical_genetics def: "The term odontogenic keratocyst was introduced in 1956 to describe cysts of the jaw exhibiting keratinization of their lining. Periodontal, dentigerous, primordial, residual, and gingival cysts may exhibit keratinized linings and can properly be identified as odontogenic keratocysts on the basis of their histologic appearance but may also be identified by their \"developmental\" designation. There is no justification for considering the term odontogenic keratocyst as a synonym for primordial cyst, a term that was introduced in 1945 to identify the odontogenic cyst formed from enamel organ before calcification occurred as part of a classification based on development, structure, and radiographic appearance." [HPO:curators] synonym: "Odontogenic keratocysts of the jaw" EXACT [HPO:curators] xref: UMLS:C0022359 xref: UMLS:C0341038 xref: UMLS:C1273020 xref: UMLS:C1708604 is_a: HP:0000209 ! Abnormality of the jaws is_a: HP:0100612 ! Odontogenic neoplasm created_by: sandra1 creation_date: 2009-10-27T02:26:31Z [Term] id: HP:0010604 name: Cysts of the eyelid namespace: medical_genetics xref: UMLS:C0010709 xref: UMLS:C0015426 xref: UMLS:C1280734 xref: UMLS:C2239120 is_a: HP:0010732 ! nodular changes affecting the eyelids is_a: HP:0200040 ! Skin cysts created_by: sandra1 creation_date: 2009-10-27T10:57:50Z [Term] id: HP:0010605 name: Chalazion namespace: medical_genetics 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. The only therapie is surgical removement of the chalazion." [HPO:curators] synonym: "Meibomian gland lipogranuloma" EXACT [HPO:curators] xref: UMLS:C0007933 xref: UMLS:C0025181 xref: UMLS:C1034112 xref: UMLS:C1281270 xref: UMLS:C1704214 is_a: HP:0010604 ! Cysts of the eyelid created_by: sandra1 creation_date: 2009-10-27T10:58:24Z [Term] id: HP:0010606 name: Hordeolum namespace: medical_genetics 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:curators] xref: UMLS:C0019917 is_a: HP:0010604 ! Cysts of the eyelid created_by: sandra1 creation_date: 2009-10-27T11:01:13Z [Term] id: HP:0010607 name: Hordeolum externum namespace: medical_genetics 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 is_a: HP:0010606 ! Hordeolum created_by: sandra1 creation_date: 2009-10-27T11:33:07Z [Term] id: HP:0010608 name: Hordeolum internum namespace: medical_genetics 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 is_a: HP:0010606 ! Hordeolum created_by: sandra1 creation_date: 2009-10-27T11:33:25Z [Term] id: HP:0010609 name: Skin tags namespace: medical_genetics 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 is_a: HP:0000951 ! Abnormality of the skin created_by: sandra1 creation_date: 2009-10-27T11:41:03Z [Term] id: HP:0010610 name: Palmar pits namespace: medical_genetics xref: UMLS:C0423776 is_a: HP:0003098 ! Minor hand anomalies is_a: HP:0100276 ! Skin pits created_by: sandra1 creation_date: 2009-10-28T01:23:05Z [Term] id: HP:0010611 name: Abnormal feet morphology namespace: medical_genetics xref: UMLS:C0016504 xref: UMLS:C0205161 xref: UMLS:C0332437 xref: UMLS:C0347981 xref: UMLS:C0543482 xref: UMLS:C0700329 xref: UMLS:C0700619 xref: UMLS:C2347472 is_a: HP:0001760 ! Abnormality of the feet created_by: sandra1 creation_date: 2009-10-28T01:24:27Z [Term] id: HP:0010612 name: Plantar pits namespace: medical_genetics xref: UMLS:C1852301 is_a: HP:0010613 ! Minor feet anomalies is_a: HP:0100276 ! Skin pits created_by: sandra1 creation_date: 2009-10-28T01:25:57Z [Term] id: HP:0010613 name: Minor feet anomalies namespace: medical_genetics xref: UMLS:C0000769 xref: UMLS:C0016504 xref: UMLS:C0026193 xref: UMLS:C0205165 xref: UMLS:C0347981 is_a: HP:0010611 ! Abnormal feet morphology created_by: sandra1 creation_date: 2009-10-28T01:28:39Z [Term] id: HP:0010614 name: Fibroma namespace: medical_genetics 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: UMLS:C0016045 is_a: HP:0002664 ! Neoplasia created_by: sandra1 creation_date: 2009-10-28T05:52:39Z [Term] id: HP:0010615 name: Angiofibromas namespace: medical_genetics def: "Angiofibroma consist of many often dilated vessels." [HPO:curators] xref: UMLS:C0206731 is_a: HP:0010614 ! Fibroma created_by: sandra1 creation_date: 2009-10-28T06:00:14Z [Term] id: HP:0010616 name: Lung fibroma namespace: medical_genetics 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 is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0010614 ! Fibroma created_by: sandra1 creation_date: 2009-10-28T06:04:01Z [Term] id: HP:0010617 name: Cardiac fibroma namespace: medical_genetics def: "A `fibroma` (MPATH:407) of the `heart` (FMA:7088)." [HPO:probinson] xref: UMLS:C1096654 is_a: HP:0010614 ! Fibroma is_a: HP:0100544 ! Cardiac neoplasm created_by: sandra1 creation_date: 2009-10-28T06:13:11Z [Term] id: HP:0010618 name: Ovarian fibroma namespace: medical_genetics def: "The presence of a `fibroma` (MPATH:407) of the `ovary` (FMA:7209)." [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 is_a: HP:0010614 ! Fibroma is_a: HP:0100615 ! Ovarian neoplasm created_by: sandra1 creation_date: 2009-10-28T06:13:11Z [Term] id: HP:0010619 name: Fibroma of the breast namespace: medical_genetics def: "The presence of a `fibroma` (MPATH:407) of the `breast` (FMA:9601)." [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. xref: UMLS:C0006141 xref: UMLS:C0016045 xref: UMLS:C1268990 is_a: HP:0010614 ! Fibroma is_a: HP:0100013 ! Neoplasm of the breast created_by: sandra1 creation_date: 2009-10-28T06:13:11Z [Term] id: HP:0010620 name: Prominent malar region namespace: medical_genetics def: "Increased prominence of the malar region (cheeks)." [HPO:curators] xref: UMLS:C0017446 xref: UMLS:C0205147 xref: UMLS:C1865298 is_a: HP:0001999 ! Facial dysmorphism created_by: peter creation_date: 2009-11-02T07:53:02Z [Term] id: HP:0010621 name: Cutaneous syndactyly of the toes namespace: medical_genetics alt_id: HP:0001990 alt_id: HP:0004707 alt_id: HP:0010555 def: "Webbing or fusion of the toes involving soft parts only." [HPO:curators] synonym: "Cutaneous syndactyly (feet)" EXACT [] synonym: "soft tissue syndactyly of toes" EXACT [] synonym: "Syndactyly, cutaneous (feet)" EXACT [] xref: UMLS:C0016504 xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0221912 xref: UMLS:C0225317 xref: UMLS:C0347981 xref: UMLS:C1522192 xref: UMLS:C1522447 xref: UMLS:C1861921 xref: UMLS:C2117411 is_a: HP:0001770 ! Toe syndactyly created_by: doelkens creation_date: 2009-11-18T10:32:21Z [Term] id: HP:0010622 name: Neoplasia of the skeletal system namespace: medical_genetics def: "`Neoplasia` (HP:0002664) affecting the `skeleton` (FMA:23875)." [HPO:probinson] is_a: HP:0002664 ! Neoplasia created_by: peter creation_date: 2010-06-25T08:54:46Z [Term] id: HP:0010624 name: Aplastic/hypoplastic toenails namespace: medical_genetics alt_id: HP:0008381 alt_id: HP:0008389 synonym: "Aplastic/hypoplastic toenails" EXACT [] synonym: "Hypoplastic-absent toenails" EXACT [] xref: UMLS:C0334079 xref: UMLS:C1837279 xref: UMLS:C1856749 is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails is_a: HP:0008388 ! Abnormality of the toenails created_by: doelkens creation_date: 2009-11-20T05:55:11Z [Term] id: HP:0010625 name: Aplasia/Hypoplasia of the pituitary gland namespace: medical_genetics def: "Absence or underdevelopment of the pituitary gland." [HPO:curators] xref: UMLS:C0032005 xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C1278880 is_a: HP:0000838 ! Abnormality of the pituitary gland created_by: peter creation_date: 2009-12-05T03:03:17Z [Term] id: HP:0010626 name: Aplasia of the pituitary gland namespace: medical_genetics def: "Absence of the pituitary gland." [HPO:curators] xref: UMLS:C0032005 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1278880 is_a: HP:0010625 ! Aplasia/Hypoplasia of the pituitary gland created_by: peter creation_date: 2009-12-05T03:04:20Z [Term] id: HP:0010627 name: Hypoplasia of the pituitary gland namespace: medical_genetics def: "Underdevelopment of the pituitary gland." [HPO:curators] xref: UMLS:C0032005 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1278880 is_a: HP:0010625 ! Aplasia/Hypoplasia of the pituitary gland created_by: peter creation_date: 2009-12-05T03:04:48Z [Term] id: HP:0010628 name: Facial nerve palsy namespace: medical_genetics alt_id: HP:0000296 alt_id: HP:0000302 alt_id: HP:0000344 alt_id: HP:0002008 alt_id: HP:0002517 alt_id: HP:0007212 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. 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" RELATED [] synonym: "Facial nerve palsy " EXACT [] synonym: "Facial nerve paralysis" EXACT [] synonym: "Facial palsy" EXACT [] synonym: "Facial palsy, unilateral or bilateral" EXACT [] synonym: "Facial paralysis" RELATED [] synonym: "Facial weakness" RELATED [] synonym: "Seventh cranial nerve palsy" EXACT [] synonym: "VII th cranial nerve palsy " EXACT [] xref: UMLS:C0015462 xref: UMLS:C0015464 xref: UMLS:C0015469 xref: UMLS:C0026845 xref: UMLS:C0151311 xref: UMLS:C0205092 xref: UMLS:C0238767 xref: UMLS:C0427055 xref: UMLS:C0445385 xref: UMLS:C0522224 xref: UMLS:C1305734 xref: UMLS:C1417908 xref: UMLS:C1704800 xref: UMLS:C1995013 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 namespace: medical_genetics def: "Any abnormality affecting the cortex of the humerus." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0007776 xref: UMLS:C0020164 xref: UMLS:C1176472 xref: UMLS:C1279075 xref: UMLS:C1704258 is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003103 ! Abnormality of cortical bone created_by: peter creation_date: 2009-12-06T05:45:26Z [Term] id: HP:0010630 name: Abnormality of the epiphyses of the metatarsals namespace: medical_genetics def: "Any abnormality of the epiphyses of the metatarsal bones." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0025584 xref: UMLS:C1704258 is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0010631 ! Abnormality of the epiphyses of the feet created_by: peter creation_date: 2009-12-06T05:58:36Z [Term] id: HP:0010631 name: Abnormality of the epiphyses of the feet namespace: medical_genetics def: "Any abnormality of the epiphyses of the feet." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0016504 xref: UMLS:C0347981 xref: UMLS:C1704258 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 namespace: medical_genetics def: "Inability to detect any qualitative olfactory sensation." [HPO:curators] xref: UMLS:C0003126 xref: UMLS:C0439175 xref: UMLS:C0439810 is_a: HP:0000458 ! Anosmia created_by: peter creation_date: 2009-12-06T07:51:50Z [Term] id: HP:0010633 name: Partial anosmia namespace: medical_genetics def: "Inability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)." [HPO:curators] xref: UMLS:C0003126 xref: UMLS:C0728938 xref: UMLS:C1550516 is_a: HP:0000458 ! Anosmia created_by: peter creation_date: 2009-12-06T07:52:37Z [Term] id: HP:0010634 name: Total hyposmia namespace: medical_genetics def: "Reduced ability to detect any qualitative olfactory sensation." [HPO:curators] xref: UMLS:C0234260 xref: UMLS:C0439175 xref: UMLS:C0439810 is_a: HP:0004409 ! Hyposmia created_by: peter creation_date: 2009-12-06T07:54:13Z [Term] id: HP:0010635 name: Partial hyposmia namespace: medical_genetics def: "Reduced ability to perceive certain odorants (implies that the sense of smell is maintained for other classes of odorants)." [HPO:curators] xref: UMLS:C0234260 xref: UMLS:C0728938 xref: UMLS:C1550516 is_a: HP:0004409 ! Hyposmia created_by: peter creation_date: 2009-12-06T07:54:13Z [Term] id: HP:0010636 name: Schizencephaly namespace: medical_genetics def: "The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area." [HPO:curators] xref: UMLS:C0266484 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 namespace: medical_genetics def: "A form of `amyloidosis` (HP:0011034) that affects the `conjunctiva` (FMA:59011)." [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 is_a: HP:0000502 ! Abnormality of the conjunctiva is_a: HP:0011034 ! Amyloidosis created_by: peter creation_date: 2009-12-07T03:20:51Z [Term] id: HP:0010638 name: Elevated alkaline phosphatase of hepatic origin namespace: medical_genetics def: "An abnormally increased level of liver isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." [HPO:probinson] xref: UMLS:C0151849 xref: UMLS:C0205054 xref: UMLS:C0439659 xref: UMLS:C1550512 is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase created_by: doelkens creation_date: 2009-12-11T03:47:19Z [Term] id: HP:0010639 name: Elevated alkaline phosphatase of bone origin namespace: medical_genetics alt_id: HP:0008266 def: "An abnormally increased level of bone isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) 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:C0151849 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0439659 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1550512 xref: UMLS:C1833667 is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase created_by: doelkens creation_date: 2009-12-11T03:47:19Z [Term] id: HP:0010640 name: Abnormality of the nasal cavity namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0027423 xref: UMLS:C1280672 xref: UMLS:C1704258 xref: UMLS:C2087464 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 namespace: medical_genetics def: "Abnormality of the midnasal cavity which includes the cavity between the nares and the choanae." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0011334 xref: UMLS:C0333343 xref: UMLS:C1510420 xref: UMLS:C1704258 is_a: HP:0010640 ! Abnormality of the nasal cavity created_by: doelkens creation_date: 2009-12-17T04:58:21Z [Term] id: HP:0010642 name: Midnasal atresia or stenosis namespace: medical_genetics def: "Absence (atresia) or abnormal narrowing (stenosis) of the midnasal cavity." [HPO:curators] xref: UMLS:C0009814 xref: UMLS:C0243066 xref: UMLS:C0678234 xref: UMLS:C0947637 xref: UMLS:C1261287 xref: UMLS:C2119047 is_a: HP:0010641 ! Abnormality of the midnasal cavity created_by: doelkens creation_date: 2009-12-17T05:06:01Z [Term] id: HP:0010643 name: Midnasal atresia namespace: medical_genetics def: "Absence or abnormal closure of the midnasal cavity." [HPO:curators] xref: UMLS:C0243066 xref: UMLS:C2119047 is_a: HP:0010642 ! Midnasal atresia or stenosis created_by: doelkens creation_date: 2009-12-17T05:06:01Z [Term] id: HP:0010644 name: Midnasal stenosis namespace: medical_genetics def: "Abnormal narrowing of the midnasal cavity." [HPO:curators] xref: UMLS:C1840238 is_a: HP:0010642 ! Midnasal atresia or stenosis created_by: doelkens creation_date: 2009-12-17T05:06:01Z [Term] id: HP:0010645 name: Aplasia of the distal phalanges of the toes namespace: medical_genetics def: "Absence of the distal phalanges of the toes." [HPO:curators] xref: UMLS:C0040357 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0576464 is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes is_a: HP:0010745 ! Aplasia fo the phalanges of the toes created_by: peter creation_date: 2010-02-17T02:41:47Z [Term] id: HP:0010646 name: Cervical spine instability namespace: medical_genetics 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 is_a: HP:0003319 ! Abnormality of the cervical spine created_by: doelkens creation_date: 2010-02-23T11:15:32Z [Term] id: HP:0010647 name: Abnormality of skin texture namespace: medical_genetics def: "Any abnormality of the appearance and feel (texture) of the surface of the skin." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0423752 xref: UMLS:C1704258 is_a: HP:0000951 ! Abnormality of the skin created_by: doelkens creation_date: 2010-02-23T11:42:34Z [Term] id: HP:0010648 name: Dermal translucency namespace: medical_genetics 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:curator] xref: UMLS:C0221928 xref: UMLS:C0332546 is_a: HP:0000951 ! Abnormality of the skin created_by: doelkens creation_date: 2010-02-23T11:50:37Z [Term] id: HP:0010649 name: Flat nasal alae namespace: medical_genetics def: "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)." [HPO:probinson] xref: UMLS:C0205324 xref: UMLS:C0457933 xref: UMLS:C0458563 is_a: HP:0000429 ! Abnormality of the nasal alae created_by: peter creation_date: 2010-02-25T10:01:47Z [Term] id: HP:0010650 name: Hypoplasia of the premaxilla namespace: medical_genetics def: "Underdevelopment of the `Premaxilla` (FMA:76869), which is the embryonic structure that forms the anterior part of the maxilla." [HPO:probinson] synonym: "Hypoplastic_premaxilla" EXACT [] xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C0687094 xref: UMLS:C1281803 is_a: HP:0010756 ! Aplasia/Hypoplasia of the premaxilla created_by: peter creation_date: 2010-02-25T10:11:43Z [Term] id: HP:0010651 name: Abnormality of the meninges namespace: medical_genetics def: "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)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0025285 xref: UMLS:C0154728 xref: UMLS:C1704258 is_a: HP:0002011 ! Abnormality of the central nervous system created_by: peter creation_date: 2010-02-25T10:19:40Z [Term] id: HP:0010652 name: Abnormality of the dura mater namespace: medical_genetics def: "An abnormality of the `Dura mater` (FMA:9592)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0013313 xref: UMLS:C1704258 is_a: HP:0010651 ! Abnormality of the meninges created_by: peter creation_date: 2010-02-25T10:29:40Z [Term] id: HP:0010653 name: Abnormality of the falx cerebri namespace: medical_genetics def: "An abnormality of the `Falx cerebri` (FMA:83967)." [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 [] xref: UMLS:C0000768 xref: UMLS:C0228120 xref: UMLS:C1281046 xref: UMLS:C1704258 is_a: HP:0010652 ! Abnormality of the dura mater created_by: peter creation_date: 2010-02-25T10:32:52Z [Term] id: HP:0010654 name: Aplasia of the falx cerebri namespace: medical_genetics def: "A developmental defect characterized by `aplasia` (MPATH:58) of the `Falx cerebri` (FMA:83967)." [HPO:probinson] xref: UMLS:C0228120 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1281046 is_a: HP:0010653 ! Abnormality of the falx cerebri created_by: peter creation_date: 2010-02-25T10:35:26Z [Term] id: HP:0010655 name: Stippling of the epiphyses namespace: medical_genetics alt_id: HP:0002658 alt_id: HP:0010586 def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses (FMA:24012)." [HPO:curators] synonym: "Epiphyseal stippling" EXACT [] synonym: "Stippled epiphyses" EXACT [] xref: UMLS:C0008445 xref: UMLS:C0014570 xref: UMLS:C1844845 xref: UMLS:C1979978 is_a: HP:0002832 ! Calcific stippling is_a: HP:0005930 ! Abnormality of the epiphyses created_by: doelkens creation_date: 2010-02-25T09:41:24Z [Term] id: HP:0010656 name: Abnormality of the mineralisation or ossification of the epiphyses namespace: medical_genetics def: "Abnormal mineralisation/calicfication and ossification affecting the epiphyses." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0014570 xref: UMLS:C0029433 xref: UMLS:C1533591 xref: UMLS:C1704258 is_a: HP:0004348 ! Abnormality of bone mineral density created_by: doelkens creation_date: 2010-02-25T09:43:04Z [Term] id: HP:0010657 name: Patchy reduction of bone mineral density namespace: medical_genetics 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] xref: UMLS:C0005938 xref: UMLS:C0177804 xref: UMLS:C0205413 xref: UMLS:C0301630 xref: UMLS:C0392756 xref: UMLS:C0441610 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 namespace: medical_genetics 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] xref: UMLS:C0005938 xref: UMLS:C0177804 xref: UMLS:C0205413 xref: UMLS:C0392747 xref: UMLS:C0443172 xref: UMLS:C1705241 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 increased and decreased bone mineral density namespace: medical_genetics def: "Patchy (irregular) changes in bone mineral density which in this case include patches of bone showing an increased density side to side with pathches that are affected by reduction of mineral density. This can take on many forms depending on severity and distribution as can be seen on x-rays and sometimes is revered to as a moth-eaten appearance on x-rays." [HPO:curators] xref: UMLS:C0205217 xref: UMLS:C0205413 xref: UMLS:C0442805 xref: UMLS:C1968854 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: Abnormality of the mineralisation and ossification of bones of the hand namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0018563 xref: UMLS:C0029433 xref: UMLS:C0262950 xref: UMLS:C1266909 xref: UMLS:C1281583 xref: UMLS:C1533591 xref: UMLS:C1552914 xref: UMLS:C1704258 is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0004348 ! Abnormality of bone mineral density created_by: doelkens creation_date: 2010-02-25T05:18:19Z [Term] id: HP:0010661 name: Absence of the third cerebral ventricle namespace: medical_genetics def: "A developmental defect characterized by the absence of the `Third ventricle` (FMA:78454)." [HPO:probinson] xref: UMLS:C0149555 xref: UMLS:C1689985 xref: UMLS:C2107118 is_a: HP:0010951 ! Abnormality of the third ventricle created_by: peter creation_date: 2010-02-26T08:00:47Z [Term] id: HP:0010662 name: Abnormality of the diencephalon namespace: medical_genetics def: "An abnormality of the `Diencephalon` (FMA:62001), 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. xref: UMLS:C0000768 xref: UMLS:C0012144 xref: UMLS:C1281065 xref: UMLS:C1704258 is_a: HP:0100547 ! Abnormality of the forebrain created_by: peter creation_date: 2010-02-26T08:02:38Z [Term] id: HP:0010663 name: Abnormality of the thalamus namespace: medical_genetics def: "An abnormality of the `thalamus` (FMA:62007)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0039729 xref: UMLS:C1269896 xref: UMLS:C1704258 is_a: HP:0010662 ! Abnormality of the diencephalon created_by: peter creation_date: 2010-02-26T08:03:50Z [Term] id: HP:0010664 name: Fusion of the left and right thalami namespace: medical_genetics def: "A developmental defect characterized by fusion of the left and right halves of the `thalamus` (FMA:62007)." [HPO:probinson] synonym: "Fused thalami" EXACT [] synonym: "Undivided thalami" EXACT [] xref: UMLS:C0039729 xref: UMLS:C0205091 xref: UMLS:C0332466 xref: UMLS:C1269896 xref: UMLS:C1293131 xref: UMLS:C1552822 xref: UMLS:C1834930 xref: UMLS:C2328150 is_a: HP:0010663 ! Abnormality of the thalamus created_by: peter creation_date: 2010-02-26T08:04:37Z [Term] id: HP:0010665 name: Bilateral coxa valga namespace: medical_genetics def: "The presence of bilateral `coxa_valga` (HP:0002673)." [HPO:probinson] xref: UMLS:C0152430 xref: UMLS:C0238767 xref: UMLS:C0239137 is_a: HP:0002673 ! Coxa valga created_by: peter creation_date: 2010-02-26T08:07:03Z [Term] id: HP:0010666 name: Hypoplasia of the anterior nasal spine namespace: medical_genetics def: "Underdevelopment of the `anterior nasal spine of maxilla` (FMA:75770)." [HPO:probinson] xref: UMLS:C0205094 xref: UMLS:C0222698 xref: UMLS:C0243069 xref: UMLS:C0543481 is_a: HP:0000327 ! Hypoplasia of the maxilla created_by: peter creation_date: 2010-02-26T08:10:11Z [Term] id: HP:0010667 name: Aplasia of the maxilla namespace: medical_genetics def: "A congenital defect characterized by absence of the `Maxilla` (FMA:9711)." [HPO:probinson] xref: UMLS:C0024947 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1279060 xref: UMLS:C2239124 is_a: HP:0009117 ! Aplasia/Hypoplasia of the maxilla created_by: peter creation_date: 2010-02-26T08:11:45Z [Term] id: HP:0010668 name: Abnormality of the zygomatic bone namespace: medical_genetics def: "An abnormality of the `zygomatic bone` (FMA:52747)." [HPO:curators] xref: UMLS:C0000768 xref: UMLS:C0043539 xref: UMLS:C1280851 xref: UMLS:C1704258 is_a: HP:0005557 ! Abnormality of the zygomatic arch created_by: peter creation_date: 2010-02-26T08:13:11Z [Term] id: HP:0010669 name: Hypoplasia of the zygomatic bone namespace: medical_genetics def: "Underdevelopment of the `zygomatic bone` (FMA:52747)." [HPO:probinson] xref: UMLS:C0043539 xref: UMLS:C0243069 xref: UMLS:C0543481 xref: UMLS:C1280851 is_a: HP:0010668 ! Abnormality of the zygomatic bone created_by: peter creation_date: 2010-02-26T08:14:04Z [Term] id: HP:0010670 name: Aplasia/Hypoplasia of the fifth metatarsal bone namespace: medical_genetics def: "A developmental abnormality characterized by the absence or underdevelopment of the `Fifth metatarsal bone` (FMA:24506)." [HPO:probinson] xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0459705 xref: UMLS:C0543481 is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones created_by: peter creation_date: 2010-02-26T08:20:35Z [Term] id: HP:0010671 name: Hypoplasia of the fifth metatarsal bone namespace: medical_genetics def: "Underdevelopment of the `Fifth metatarsal bone` (FMA:24506)." [HPO:probinson] xref: UMLS:C0243069 xref: UMLS:C0459705 xref: UMLS:C0543481 is_a: HP:0010670 ! Aplasia/Hypoplasia of the fifth metatarsal bone created_by: peter creation_date: 2010-02-26T08:21:39Z [Term] id: HP:0010672 name: Abnormality of the 3rd metatarsal bone namespace: medical_genetics def: "An abnormality of the `Third metatarsal bone` (FMA:24504)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0025584 xref: UMLS:C0205437 xref: UMLS:C1704258 is_a: HP:0001832 ! Abnormality of the metatarsal bones created_by: peter creation_date: 2010-02-26T08:22:51Z [Term] id: HP:0010673 name: Hypoplasia of the 3rd metatarsal bone namespace: medical_genetics def: "Underdevelopment of the `Third metatarsal bone` (FMA:24504)." [HPO:probinson] xref: UMLS:C0025584 xref: UMLS:C0205437 xref: UMLS:C0243069 xref: UMLS:C0543481 is_a: HP:0010672 ! Abnormality of the 3rd metatarsal bone created_by: peter creation_date: 2010-02-26T08:23:37Z [Term] id: HP:0010674 name: Abnormality of the curvature of the vertebral column namespace: medical_genetics def: "The presence of an `abnormal` (PATO:0000460) `curvature` (PATO:0001591) of the `vertebral column` (FMA:13478)." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C0549207 xref: UMLS:C1704258 is_a: HP:0000925 ! Abnormality of the vertebral column created_by: sandra1 creation_date: 2010-02-27T06:28:19Z [Term] id: HP:0010675 name: Abnormality of the mineralisation and ossification of bones of the feet namespace: medical_genetics alt_id: HP:0008370 alt_id: HP:0009133 synonym: "Abnormal ossification involving bones of the feet" RELATED [] synonym: "Abnormality of bone mineral density involving bones of the feet" RELATED [] xref: UMLS:C0000768 xref: UMLS:C0005938 xref: UMLS:C0016504 xref: UMLS:C0029433 xref: UMLS:C0177804 xref: UMLS:C0231557 xref: UMLS:C0262950 xref: UMLS:C0347981 xref: UMLS:C1266909 xref: UMLS:C1314939 xref: UMLS:C1533591 xref: UMLS:C1704258 is_a: HP:0001760 ! Abnormality of the feet is_a: HP:0004348 ! Abnormality of bone mineral density created_by: sandra1 creation_date: 2010-02-28T05:27:47Z [Term] id: HP:0010676 name: Mechanical ileus namespace: medical_genetics xref: UMLS:C0400843 is_a: HP:0002595 ! Ileus created_by: sandra1 creation_date: 2010-03-01T08:43:38Z [Term] id: HP:0010677 name: Enuresis nocturna namespace: medical_genetics def: "`Enuresis` (HP:0000805) occuring during sleeping hours." [HPO:sdoelken] synonym: "Nocturnal enuresis" EXACT [] xref: UMLS:C0014394 xref: UMLS:C0270327 is_a: HP:0000805 ! Enuresis created_by: sandra1 creation_date: 2010-03-01T09:11:31Z [Term] id: HP:0010678 name: Enuresis diurna namespace: medical_genetics def: "`Enuresis` (HP:0000805) occuring during waking hours of the day." [HPO:sdoelken] xref: UMLS:C0014394 xref: UMLS:C0270327 xref: UMLS:C0332169 is_a: HP:0000805 ! Enuresis created_by: sandra1 creation_date: 2010-03-01T09:11:51Z [Term] id: HP:0010679 name: Elevated tissue non-specific alkaline phosphatase namespace: medical_genetics def: "An abnormally increased level of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) 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 [] xref: UMLS:C0022646 xref: UMLS:C0023884 xref: UMLS:C0151849 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1278929 xref: UMLS:C1278978 xref: UMLS:C1412877 xref: UMLS:C1518422 xref: UMLS:C1955394 xref: UMLS:C2346688 is_a: HP:0003155 ! Elevated alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:08:35Z [Term] id: HP:0010680 name: Elevated alkaline phosphatase of renal origin namespace: medical_genetics def: "An abnormally increased level of kidney isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." [HPO:probinson] xref: UMLS:C0022646 xref: UMLS:C0151849 xref: UMLS:C0439659 xref: UMLS:C1550512 is_a: HP:0000077 ! Abnormality of the kidney is_a: HP:0010679 ! Elevated tissue non-specific alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:09:59Z [Term] id: HP:0010681 name: Elevated intestinal alkaline phosphatase namespace: medical_genetics def: "An abnormally increased level of `alkaline phosphatase, intestinal type` (PRO:000003964) 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). xref: UMLS:C0021853 xref: UMLS:C0151849 xref: UMLS:C0205250 xref: UMLS:C1412363 is_a: HP:0003155 ! Elevated alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:10:34Z [Term] id: HP:0010682 name: Elevated placental alkaline phosphatase namespace: medical_genetics def: "An abnormally increased level of `alkaline phosphatase, placental type` (PRO:000003969) 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). xref: UMLS:C0032043 xref: UMLS:C0151849 xref: UMLS:C0205250 xref: UMLS:C0230956 xref: UMLS:C1412365 is_a: HP:0003155 ! Elevated alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:11:06Z [Term] id: HP:0010683 name: Low tissue non-specific alkaline phosphatase namespace: medical_genetics def: "An abnormally reduced level of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." [HPO:probinson] xref: UMLS:C1412877 xref: UMLS:C1518422 xref: UMLS:C1855813 xref: UMLS:C1955394 is_a: HP:0003282 ! Low alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:12:08Z [Term] id: HP:0010684 name: Low alkaline phosphatase of bone origin namespace: medical_genetics def: "An abnormally reduced level of bone isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." [HPO:probinson] xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0439659 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1550512 xref: UMLS:C1855813 is_a: HP:0010683 ! Low tissue non-specific alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:12:47Z [Term] id: HP:0010685 name: Low alkaline phosphatase of renal origin namespace: medical_genetics def: "An abnormally reduced level of kidney isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." [HPO:probinson] xref: UMLS:C0022646 xref: UMLS:C0439659 xref: UMLS:C1550512 xref: UMLS:C1855813 is_a: HP:0000077 ! Abnormality of the kidney is_a: HP:0010683 ! Low tissue non-specific alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:12:47Z [Term] id: HP:0010686 name: Low alkaline phosphatase of hepatic origin namespace: medical_genetics def: "An abnormally reduced level of liver isoforms of `alkaline phosphatase, tissue-nonspecific isozyme` (PRO:000003968) in the blood." [HPO:probinson] xref: UMLS:C0205054 xref: UMLS:C0439659 xref: UMLS:C1550512 xref: UMLS:C1855813 is_a: HP:0010683 ! Low tissue non-specific alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:12:47Z [Term] id: HP:0010687 name: Low intestinal alkaline phosphatase namespace: medical_genetics def: "An abnormally reduced level of `alkaline phosphatase, intestinal type` (PRO:000003964) in the blood." [HPO:probinson] xref: UMLS:C0021853 xref: UMLS:C0205251 xref: UMLS:C1299352 xref: UMLS:C1412363 xref: UMLS:C1550472 xref: UMLS:C1855813 is_a: HP:0003282 ! Low alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:13:10Z [Term] id: HP:0010688 name: Low placental alkaline phosphatase namespace: medical_genetics def: "An abnormally reduced level of `alkaline phosphatase, placental type` (PRO:000003969) in the blood." [HPO:probinson] xref: UMLS:C0032043 xref: UMLS:C0205251 xref: UMLS:C0230956 xref: UMLS:C1299352 xref: UMLS:C1412365 xref: UMLS:C1550472 xref: UMLS:C1855813 is_a: HP:0003282 ! Low alkaline phosphatase created_by: doelkens creation_date: 2010-03-05T11:13:28Z [Term] id: HP:0010689 name: Mirror image dupliction of digits namespace: medical_genetics def: "A mirror-like duplication of the digits of the hands or feet leading to an appearance were radio/ulnar and/or fibular/tibial aspects of the hands and/or feet can not be destinguished anymore. Depending on severity this might also affect the bones of the forarm or lower leg in such a way that there might be two ulnae rather than one radius and ulna each. The same may be seen for the fibula and tibia." [HPO:sdoelken] 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. xref: UMLS:C0582802 xref: UMLS:C0870904 is_a: HP:0010442 ! Polydactyly created_by: doelkens creation_date: 2010-03-05T05:03:16Z [Term] id: HP:0010690 name: Mirror image dupliction of fingers namespace: medical_genetics def: "`Mirror image dupliction of digits` (HP:0010689) affecting the hands only." [HPO:sdoelken] xref: UMLS:C0016129 xref: UMLS:C0549188 xref: UMLS:C0870904 is_a: HP:0001161 ! Polydactyly (hands) is_a: HP:0010689 ! Mirror image dupliction of digits created_by: doelkens creation_date: 2010-03-05T05:05:05Z [Term] id: HP:0010691 name: Mirror image dupliction of toes namespace: medical_genetics def: "`Mirror image dupliction of digits` (HP:0010689) affecting the feet only." [HPO:sdoelken] xref: UMLS:C0040357 xref: UMLS:C0870904 is_a: HP:0001829 ! Polydactyly (feet) is_a: HP:0010689 ! Mirror image dupliction of digits created_by: doelkens creation_date: 2010-03-05T05:05:05Z [Term] id: HP:0010692 name: 2-5 finger syndactyly namespace: medical_genetics def: "`Syndactyly` (HP:0001159) with fusion of fingers two to five." [HPO:sdoelken] xref: UMLS:C0221352 is_a: HP:0006101 ! Finger syndactyly created_by: doelkens creation_date: 2010-03-05T06:41:50Z [Term] id: HP:0010693 name: Pulverulent Cataract namespace: medical_genetics def: "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." [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 is_a: HP:0007648 ! Punctate cataract created_by: peter creation_date: 2010-03-11T02:49:53Z [Term] id: HP:0010694 name: Lamellar pulverulent cataract namespace: medical_genetics def: "A `Lamellar cataract` (HP:0007971) with a pulverulent (punctate, \"dust-like\" opacities) appearance." [HPO:probinson] comment: Opacities located in the perinuclear (lamellar) zones of the lens. xref: UMLS:C0266537 is_a: HP:0007971 ! Lamellar cataract created_by: peter creation_date: 2010-03-20T11:43:14Z [Term] id: HP:0010695 name: Sutural cataract namespace: medical_genetics def: "A type of `congenital cataract` (HP:0000519) 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. xref: UMLS:C0086543 xref: UMLS:C0439747 is_a: HP:0010920 ! Zonular cataract created_by: peter creation_date: 2010-03-20T12:07:04Z [Term] id: HP:0010696 name: Polar cataract namespace: medical_genetics def: "A type of `Congenital cataract` (HP:0000519) in which the opacities occupy the subcapsular cortex at the anterior or posterior pole of the lens." [HPO:probinson] xref: UMLS:C2025392 is_a: HP:0000518 ! Cataract created_by: peter creation_date: 2010-03-20T02:36:22Z [Term] id: HP:0010697 name: Anterior pyramidal cataract namespace: medical_genetics def: "A type of `anterior polar cataract` (HP:0001134) which projects as a conical opacity into the anterior chamber." [HPO:probinson] synonym: "Pyramidal cataract" RELATED [] xref: UMLS:C0086543 is_a: HP:0001134 ! Anterior polar cataract created_by: peter creation_date: 2010-03-20T02:38:57Z [Term] id: HP:0010698 name: Nuclear pulverulent cataract namespace: medical_genetics def: "A type of `nuclear cataract` (HP:0008024) involving congenital pulverulent disc-like opacity of the embryonal and fetal nucleus with many tiny white dots in the lamellar portion of the lens." [HPO:probinson, pmid:10634616] synonym: "cataracta pulverulenta centralis" EXACT [] synonym: "Central pulverulent cataract" EXACT [] synonym: "Coppock cataract" EXACT [] synonym: "Pulverulent nuclear cataract" EXACT [] xref: UMLS:C0086543 xref: UMLS:C0205099 xref: UMLS:C0392557 xref: UMLS:C0521447 xref: UMLS:C1833118 xref: UMLS:C1879652 is_a: HP:0010693 ! Pulverulent Cataract is_a: HP:0010925 ! Nuclear punctate cataract is_a: HP:0100018 ! Nuclear cataract created_by: peter creation_date: 2010-03-20T02:53:02Z [Term] id: HP:0010699 name: Triangular nuclear cataract namespace: medical_genetics def: "A `nuclear cataract` (HP:0008024) with a triangular form." [HPO:probinson, pmid:18483562] xref: UMLS:C0205119 xref: UMLS:C0392557 is_a: HP:0100018 ! Nuclear cataract created_by: peter creation_date: 2010-03-20T02:58:26Z [Term] id: HP:0010700 name: Total cataract namespace: medical_genetics def: "A `Congenital cataract` (HP:0000519) characterized by an opacity of all the fibers of a lens." [HPO:probinson] xref: UMLS:C0152257 is_a: HP:0000518 ! Cataract created_by: peter creation_date: 2010-03-20T03:11:37Z [Term] id: HP:0010701 name: Abnormal immunoglobulin level namespace: medical_genetics 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 level of immunoglobulin" EXACT [] synonym: "Immunoglobulin abnormality" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0021027 xref: UMLS:C0086045 xref: UMLS:C0202081 xref: UMLS:C0205161 xref: UMLS:C0229671 xref: UMLS:C0441889 xref: UMLS:C0456079 xref: UMLS:C0683149 xref: UMLS:C1446561 xref: UMLS:C1550100 xref: UMLS:C1621846 xref: UMLS:C1704258 xref: UMLS:C1765330 xref: UMLS:C1855755 xref: UMLS:C2347472 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 namespace: medical_genetics 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: "Hyperglobulinemia" EXACT [] synonym: "Increased gamma globulin" EXACT [] synonym: "Increased immunoglobulin level" EXACT [] synonym: "Increased immunoglobulin levels" EXACT [] synonym: "Increased levels of globulins" EXACT [] synonym: "Increased serum gamma globulin" EXACT [] synonym: "Raised immunoglobulin levels" EXACT [] xref: UMLS:C0017007 xref: UMLS:C0017649 xref: UMLS:C0020455 xref: UMLS:C0151667 xref: UMLS:C0151729 xref: UMLS:C0205217 xref: UMLS:C0205250 xref: UMLS:C0428536 xref: UMLS:C0441889 xref: UMLS:C0442805 xref: UMLS:C0442818 xref: UMLS:C0456079 xref: UMLS:C0541985 xref: UMLS:C1306857 xref: UMLS:C1552644 xref: UMLS:C2349976 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 namespace: medical_genetics def: "`Syndactyly` (HP:0001159) with fusion of fingers one and two." [HPO:sdoelken] xref: UMLS:C0221352 is_a: HP:0006101 ! Finger syndactyly created_by: gdoelken creation_date: 2010-03-26T05:07:14Z [Term] id: HP:0010705 name: 4-5 finger syndactyly namespace: medical_genetics def: "`Syndactyly` (HP:0001159) with fusion of fingers four and five." [HPO:sdoelken] xref: UMLS:C0221352 is_a: HP:0006101 ! Finger syndactyly created_by: gdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010706 name: 1-3 finger syndactyly namespace: medical_genetics def: "`Syndactyly` (HP:0001159) with fusion of fingers one to three." [HPO:sdoelken] xref: UMLS:C0221352 is_a: HP:0006101 ! Finger syndactyly created_by: gdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010707 name: 1-4 finger syndactyly namespace: medical_genetics def: "`Syndactyly` (HP:0001159) with fusion of fingers one to four." [HPO:sdoelken] xref: UMLS:C0221352 is_a: HP:0006101 ! Finger syndactyly created_by: gdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010708 name: 1-5 finger syndactyly namespace: medical_genetics def: "`Syndactyly` (HP:0001159) with fusion of fingers one to five (complete syndactyly of all fingers of the hand)." [HPO:sdoelken] xref: UMLS:C0221352 is_a: HP:0006101 ! Finger syndactyly created_by: gdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010709 name: 2-4 finger syndactyly namespace: medical_genetics alt_id: HP:0005797 alt_id: HP:0006018 def: "`Syndactyly` (HP:0001159) with fusion of the fingers two to four." [HPO:sdoelken] synonym: "2-4 finger syndactyly" EXACT [] synonym: "Syndactyly of second to fourth fingers" EXACT [] xref: UMLS:C0039075 xref: UMLS:C0205436 xref: UMLS:C0221352 xref: UMLS:C0230398 xref: UMLS:C0457385 xref: UMLS:C0565930 xref: UMLS:C1561503 xref: UMLS:C1705190 xref: UMLS:C2117411 xref: UMLS:C2348168 is_a: HP:0006101 ! Finger syndactyly created_by: gdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010710 name: 3-5 finger syndactyly namespace: medical_genetics def: "`Syndactyly` (HP:0001159) with fusion of fingers three to five." [HPO:sdoelken] xref: UMLS:C0221352 is_a: HP:0006101 ! Finger syndactyly created_by: gdoelken creation_date: 2010-03-26T05:12:44Z [Term] id: HP:0010711 name: 1-2 toe syndactyly namespace: medical_genetics def: "`Syndactyly` (HP:0001159) with fusion of toes one and two." [HPO:sdoelken] xref: UMLS:C0265660 is_a: HP:0001770 ! Toe syndactyly created_by: gdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010712 name: 1-4 toe syndactyly namespace: medical_genetics def: "`Syndactyly` (HP:0001159) with fusion of toes one to four." [HPO:sdoelken] xref: UMLS:C0265660 is_a: HP:0001770 ! Toe syndactyly created_by: gdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010713 name: 1-5 toe syndactyly namespace: medical_genetics alt_id: HP:0005812 def: "`Syndactyly` (HP:0001159) with fusion of toes one to five (complete syndactyly of all toes of the foot)." [HPO:sdoelken] synonym: "Syndactyly of all toes" EXACT [] xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0265660 xref: UMLS:C2117411 is_a: HP:0001770 ! Toe syndactyly created_by: gdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010714 name: 2-4 toe syndactyly namespace: medical_genetics alt_id: HP:0005642 alt_id: HP:0005708 def: "`Syndactyly` (HP:0001159) with fusion of toes two to four." [HPO:sdoelken] synonym: "Syndactyly of toes 2, 3 and 4" EXACT [] synonym: "Syndactyly toes 2-4" EXACT [] xref: UMLS:C0039075 xref: UMLS:C0040357 xref: UMLS:C0265660 xref: UMLS:C2117411 is_a: HP:0001770 ! Toe syndactyly created_by: gdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010715 name: 2-5 toe syndactyly namespace: medical_genetics def: "`Syndactyly` (HP:0001159) with fusion of toes two to five." [HPO:sdoelken] xref: UMLS:C0265660 is_a: HP:0001770 ! Toe syndactyly created_by: gdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010716 name: 3-5 toe syndactyly namespace: medical_genetics def: "`Syndactyly` (HP:0001159) with fusion of toes three to five." [HPO:sdoelken] xref: UMLS:C0265660 is_a: HP:0001770 ! Toe syndactyly created_by: gdoelken creation_date: 2010-03-26T05:22:26Z [Term] id: HP:0010717 name: Osseous syndactyly of the toes namespace: medical_genetics 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 refered to as \"Symphalangism\"." [HPO:sdoelken] xref: UMLS:C0040357 xref: UMLS:C0158736 is_a: HP:0001770 ! Toe syndactyly created_by: gdoelken creation_date: 2010-03-26T05:31:50Z [Term] id: HP:0010718 name: Abnormality of habitus namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C1704258 is_a: HP:0001507 ! Growth abnormality created_by: gdoelken creation_date: 2010-04-20T09:39:15Z [Term] id: HP:0010719 name: Abnormality of hair texture namespace: medical_genetics alt_id: HP:0002295 alt_id: HP:0003776 def: "An abnormality of the texture of the `hair` (FMA:53667)." [HPO:probinson] synonym: "Brittle hair" EXACT [] synonym: "Fragile hair" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0263490 xref: UMLS:C0423865 xref: UMLS:C1704258 xref: UMLS:C1970705 is_a: HP:0001595 ! Abnormality of the hair created_by: gdoelken creation_date: 2010-04-20T09:41:53Z [Term] id: HP:0010720 name: Abnormal hair growth pattern namespace: medical_genetics def: "An abnormality of the distribution of hair growth." [HPO:probinson] xref: UMLS:C0232409 xref: UMLS:C0449774 is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0001595 ! Abnormality of the hair created_by: gdoelken creation_date: 2010-04-20T09:53:15Z [Term] id: HP:0010721 name: Abnormal hair whorl namespace: medical_genetics def: "An abnormal hair whorl (that is, a patch of hair growing in the opposite direction of the rest of the hair)." [HPO:probinson] xref: UMLS:C0205161 xref: UMLS:C1841697 xref: UMLS:C2347472 is_a: HP:0010720 ! Abnormal hair growth pattern created_by: gdoelken creation_date: 2010-04-20T10:05:04Z [Term] id: HP:0010722 name: Asymmetry of the ears namespace: medical_genetics def: "An `asymmetriy` (PATO:0000616), i.e., difference in size or shape between the left and right `ear` (FMA:52780 )." [HPO:probinson] xref: UMLS:C0013443 xref: UMLS:C0332514 xref: UMLS:C0521421 xref: UMLS:C1414437 is_a: HP:0000377 ! Abnormality of the pinna created_by: gdoelken creation_date: 2010-04-20T10:11:45Z [Term] id: HP:0010723 name: Cystic lesions of the pinnae namespace: medical_genetics xref: UMLS:C0013453 xref: UMLS:C0928075 xref: UMLS:C1047272 xref: UMLS:C1511606 xref: UMLS:C1706219 is_a: HP:0000356 ! Abnormality of the outer ear created_by: gdoelken creation_date: 2010-04-20T10:17:01Z [Term] id: HP:0010724 name: Advanced pneumatization of the mastoid process namespace: medical_genetics def: "An abnormally advanced degree of pneumatization (i.e., formation of air cells) in the `mastoid process` (FMA:52872) with respect to age-dependent norms." [HPO:probinson] xref: UMLS:C0205179 xref: UMLS:C0446908 is_a: HP:0000264 ! Abnormality of the mastoid created_by: gdoelken creation_date: 2010-04-20T10:38:57Z [Term] id: HP:0010725 name: Asymmetry in eye size namespace: medical_genetics def: "A difference in size between the left and right eye." [HPO:probinson] xref: UMLS:C0015392 xref: UMLS:C0332514 xref: UMLS:C0456389 xref: UMLS:C1280202 is_a: HP:0000489 ! Abnormality of globe location or size created_by: gdoelken creation_date: 2010-04-20T10:48:51Z [Term] id: HP:0010726 name: Visible corneal nerve fibers namespace: medical_genetics def: "Abnormal prominence of the corneal nerve fibers." [HPO:probinson] xref: UMLS:C0010031 xref: UMLS:C0027749 xref: UMLS:C0205379 is_a: HP:0000481 ! Abnormality of the cornea created_by: gdoelken creation_date: 2010-04-20T10:52:24Z [Term] id: HP:0010727 name: Spontaneous rupture of the globe namespace: medical_genetics def: "Rupture of the eyeball not due to trauma." [HPO:probinson] xref: UMLS:C0015392 xref: UMLS:C0035956 xref: UMLS:C1280202 is_a: HP:0000478 ! Abnormality of the eye created_by: gdoelken creation_date: 2010-04-20T11:05:28Z [Term] id: HP:0010728 name: Aplasia of the retina namespace: medical_genetics def: "A developmental defect characterized by absence of the `retina` (FMA:58301)." [HPO:probinson] xref: UMLS:C0035298 xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C1278894 is_a: HP:0008061 ! Aplasia/Hypoplasia affecting the retina created_by: gdoelken creation_date: 2010-04-20T11:09:59Z [Term] id: HP:0010729 name: Cherry red spot of the macula namespace: medical_genetics 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] xref: UMLS:C0227662 xref: UMLS:C0278234 xref: UMLS:C0332573 xref: UMLS:C0450295 is_a: HP:0001103 ! Abnormality of the macula created_by: gdoelken creation_date: 2010-04-20T11:14:11Z [Term] id: HP:0010730 name: Double eyebrows namespace: medical_genetics def: "This may present as a partial or complete duplication of the eyebrows and is for example often a feature of Mowat-Wilson syndrome." [HPO:sdoelken] xref: UMLS:C0431449 is_a: HP:0000534 ! Abnormality of the eyebrow created_by: doelkens creation_date: 2010-04-21T04:16:59Z [Term] id: HP:0010731 name: Eyebrows extending towards upper eyelid namespace: medical_genetics def: "The eybrows extend towards - or even all the way down to - the margin of the upper eyelid. To some extend this is a feature of Jacobson syndrome." [HPO:sdoelken] xref: UMLS:C0015420 xref: UMLS:C0439792 xref: UMLS:C0585636 xref: UMLS:C1280205 xref: UMLS:C2077307 xref: UMLS:C2239119 is_a: HP:0000534 ! Abnormality of the eyebrow created_by: doelkens creation_date: 2010-04-21T04:46:32Z [Term] id: HP:0010732 name: nodular changes affecting the eyelids namespace: medical_genetics 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] xref: UMLS:C0015426 xref: UMLS:C0205297 xref: UMLS:C0392747 xref: UMLS:C0392760 xref: UMLS:C1314939 xref: UMLS:C1705241 xref: UMLS:C2228440 is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0200036 ! skin nodules created_by: doelkens creation_date: 2010-04-21T05:11:04Z [Term] id: HP:0010733 name: Naevus flammeus of the eyelid namespace: medical_genetics def: "`Naevus flammeus` (HP:0001052) localised in the skin of the eyelid." [HPO:sdoelken] xref: UMLS:C0015426 xref: UMLS:C0235752 xref: UMLS:C1280734 xref: UMLS:C2239120 is_a: HP:0001052 ! Nevus flammeus created_by: doelkens creation_date: 2010-04-21T05:18:41Z [Term] id: HP:0010734 name: Fibrous dysplasia of the bones namespace: medical_genetics 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] xref: UMLS:C0259779 xref: UMLS:C0262950 xref: UMLS:C1266909 is_a: HP:0004348 ! Abnormality of bone mineral density created_by: doelkens creation_date: 2010-04-21T06:27:42Z [Term] id: HP:0010735 name: Polyostotic fibrous dysplasia namespace: medical_genetics def: "`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." [HPO:sdoelken] xref: UMLS:C0016065 xref: UMLS:C0242292 is_a: HP:0010734 ! Fibrous dysplasia of the bones created_by: doelkens creation_date: 2010-04-21T06:31:50Z [Term] id: HP:0010736 name: Monostotic fibrous dysplasia namespace: medical_genetics def: "`Fibrous dysplasia of the bones` (HP:0010734) were lesions are localized in only one bone." [HPO:sdoelken] xref: UMLS:C0016064 is_a: HP:0010734 ! Fibrous dysplasia of the bones created_by: doelkens creation_date: 2010-04-21T06:31:50Z [Term] id: HP:0010739 name: Osteopoikilosis namespace: medical_genetics 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: UMLS:C0029455 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 of the long bones namespace: medical_genetics def: "A lamellar design on radiagraphs mainly localised 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 appaerance." [HPO:sdoelken] xref: UMLS:C0222647 xref: UMLS:C0265513 xref: UMLS:C1282773 is_a: HP:0004348 ! Abnormality of bone mineral density is_a: HP:0006506 ! Abnormality involving the metaphyses of the limbs is_a: HP:0010766 ! Ectopic calcifications created_by: doelkens creation_date: 2010-04-21T07:30:24Z [Term] id: HP:0010741 name: Edema of the lower limbs namespace: medical_genetics xref: UMLS:C0013604 xref: UMLS:C0023216 is_a: HP:0000969 ! Edema created_by: doelkens creation_date: 2010-04-22T02:16:54Z [Term] id: HP:0010742 name: Edema of the upper limbs namespace: medical_genetics xref: UMLS:C0013604 xref: UMLS:C1140618 is_a: HP:0000969 ! Edema created_by: doelkens creation_date: 2010-04-22T02:17:15Z [Term] id: HP:0010743 name: Hypoplasia of the metatarsal bones namespace: medical_genetics alt_id: HP:0001779 alt_id: HP:0003092 alt_id: HP:0004706 alt_id: HP:0005754 synonym: "Hypoplastic metatarsals" EXACT [] synonym: "mild shortening of metatarsals" EXACT [] synonym: "Short metatarsal" EXACT [] synonym: "Short metatarsals" EXACT [] synonym: "Shortened metatarsals" EXACT [] synonym: "Variable short metatarsals" EXACT [] xref: UMLS:C0025584 xref: UMLS:C0243069 xref: UMLS:C0439828 xref: UMLS:C0441636 xref: UMLS:C0543481 xref: UMLS:C0547040 xref: UMLS:C1705098 xref: UMLS:C1838128 xref: UMLS:C1844547 xref: UMLS:C1844714 xref: UMLS:C1849020 is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones created_by: doelkens creation_date: 2010-04-22T04:30:18Z [Term] id: HP:0010744 name: Aplasia of the metatarsal bones namespace: medical_genetics xref: UMLS:C0025584 xref: UMLS:C0243065 xref: UMLS:C0334079 is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones created_by: doelkens creation_date: 2010-04-22T04:30:18Z [Term] id: HP:0010745 name: Aplasia fo the phalanges of the toes namespace: medical_genetics xref: UMLS:C0015541 xref: UMLS:C0040357 xref: UMLS:C0223792 xref: UMLS:C0243065 xref: UMLS:C0332282 xref: UMLS:C0334079 xref: UMLS:C0560011 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 fo the phalanges of the toes namespace: medical_genetics xref: UMLS:C0015541 xref: UMLS:C0040357 xref: UMLS:C0223792 xref: UMLS:C0243069 xref: UMLS:C0332282 xref: UMLS:C0543481 xref: UMLS:C0560011 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 namespace: medical_genetics def: "An abnormal distribution of eyebrow hair growth in the medial direction." [HPO:probinson] xref: UMLS:C0015420 xref: UMLS:C0205098 xref: UMLS:C1280733 xref: UMLS:C1517205 is_a: HP:0000534 ! Abnormality of the eyebrow created_by: gdoelken creation_date: 2010-04-23T09:29:58Z [Term] id: HP:0010748 name: Lacrimal Punctum, Ectopic namespace: medical_genetics 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. synonym: "Abnormal position of the lacrimal punctum" EXACT [] xref: UMLS:C0229288 xref: UMLS:C0333042 xref: UMLS:C0574895 xref: UMLS:C1280650 is_a: HP:0000614 ! Abnormality of the lacrimal duct created_by: gdoelken creation_date: 2010-04-23T09:35:56Z [Term] id: HP:0010749 name: Blepharochalasis namespace: medical_genetics 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. xref: UMLS:C0005742 is_a: HP:0100540 ! Palpebral edema created_by: gdoelken creation_date: 2010-04-23T09:53:13Z [Term] id: HP:0010750 name: Dermatochalasis namespace: medical_genetics def: "Loss of elasticity of the upper and lower eyelids causing the skin to sag and bulge." [HPO:probinson] xref: UMLS:C0010495 xref: UMLS:C0423124 is_a: HP:0000492 ! Abnormality of the eyelid created_by: gdoelken creation_date: 2010-04-23T10:07:56Z [Term] id: HP:0010751 name: Chin dimple namespace: medical_genetics def: "A persistent midline depression of the skin over the fat pad of the `chin` (FMA:46495)." [pmid:19125436] xref: UMLS:C1866963 is_a: HP:0000306 ! Abnormality of the chin created_by: gdoelken creation_date: 2010-04-23T10:29:03Z [Term] id: HP:0010752 name: Cleft mandible namespace: medical_genetics xref: UMLS:C0685786 is_a: HP:0010753 ! Midline defect of mandible created_by: gdoelken creation_date: 2010-04-23T10:32:09Z [Term] id: HP:0010753 name: Midline defect of mandible namespace: medical_genetics xref: UMLS:C0024687 xref: UMLS:C0549183 xref: UMLS:C1279059 xref: UMLS:C1457869 xref: UMLS:C1660780 xref: UMLS:C1861101 xref: UMLS:C2239125 is_a: HP:0000277 ! Abnormality of the mandible created_by: gdoelken creation_date: 2010-04-23T10:32:46Z [Term] id: HP:0010754 name: Abnormality of the temperomandibular joint namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0022417 xref: UMLS:C0392905 xref: UMLS:C1269611 xref: UMLS:C1704258 xref: UMLS:C1706309 is_a: HP:0000209 ! Abnormality of the jaws created_by: gdoelken creation_date: 2010-04-23T10:36:28Z [Term] id: HP:0010755 name: Asymmetry of the maxilla namespace: medical_genetics def: "Asymmetry between the left and right portions of the maxilla." [HPO:probinson] xref: UMLS:C0024947 xref: UMLS:C0332514 xref: UMLS:C1279060 xref: UMLS:C2239124 is_a: HP:0000326 ! Abnormality of the maxilla created_by: gdoelken creation_date: 2010-04-23T10:38:44Z [Term] id: HP:0010756 name: Aplasia/Hypoplasia of the premaxilla namespace: medical_genetics def: "Absence or underdevelopment of the `premaxilla` (FMA:76869)." [HPO:probinson] xref: UMLS:C0243065 xref: UMLS:C0243069 xref: UMLS:C0334079 xref: UMLS:C0543481 xref: UMLS:C0687094 xref: UMLS:C1281803 is_a: HP:0009117 ! Aplasia/Hypoplasia of the maxilla is_a: HP:0010758 ! Abnormality of the premaxilla created_by: gdoelken creation_date: 2010-04-23T10:40:40Z [Term] id: HP:0010757 name: Aplasia of the premaxilla namespace: medical_genetics def: "Absence of the `Premaxilla` (FMA:76869), which is the embryonic structure that forms the anterior part of the maxilla." [HPO:probinson] xref: UMLS:C0243065 xref: UMLS:C0334079 xref: UMLS:C0687094 xref: UMLS:C1281803 is_a: HP:0010756 ! Aplasia/Hypoplasia of the premaxilla created_by: gdoelken creation_date: 2010-04-23T10:42:17Z [Term] id: HP:0010758 name: Abnormality of the premaxilla namespace: medical_genetics def: "An abnormality of the `premaxilla` (FMA:76869)." [HPO:sdoelken] xref: UMLS:C0000768 xref: UMLS:C0687094 xref: UMLS:C1281803 xref: UMLS:C1704258 is_a: HP:0000326 ! Abnormality of the maxilla created_by: gdoelken creation_date: 2010-04-23T10:59:07Z [Term] id: HP:0010759 name: Prominent premaxilla namespace: medical_genetics def: "Prominent aspect of the `premaxilla` (FMA:76869)." [HPO:sdoelken] xref: UMLS:C0205402 xref: UMLS:C0687094 xref: UMLS:C1281803 is_a: HP:0010758 ! Abnormality of the premaxilla created_by: gdoelken creation_date: 2010-04-23T11:01:23Z [Term] id: HP:0010760 name: Aplasia of the toes namespace: medical_genetics xref: UMLS:C0040357 xref: UMLS:C0243065 xref: UMLS:C0334079 is_a: HP:0001991 ! Aplasia/Hypoplasia of the toes created_by: doelkens creation_date: 2010-04-23T03:58:25Z [Term] id: HP:0010761 name: Columella, broad namespace: medical_genetics def: "Increased width of the columella." [pmid:19152422] synonym: "Columella, wide" EXACT [] xref: UMLS:C0225431 xref: UMLS:C0332464 xref: UMLS:C1504610 xref: UMLS:C1522549 xref: UMLS:C1820372 is_a: HP:0009929 ! Abnormality of the columella created_by: peter creation_date: 2010-04-24T11:52:54Z [Term] id: HP:0010762 name: Chordoma namespace: medical_genetics def: "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." [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. is_a: HP:0010622 ! Neoplasia of the skeletal system created_by: peter creation_date: 2010-06-25T09:00:39Z [Term] id: HP:0010763 name: Columella, low insertion namespace: medical_genetics 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. xref: UMLS:C0021107 xref: UMLS:C0205251 xref: UMLS:C0225431 xref: UMLS:C0441587 xref: UMLS:C1299352 xref: UMLS:C1504610 xref: UMLS:C1512796 xref: UMLS:C1522549 xref: UMLS:C1550472 xref: UMLS:C1705421 xref: UMLS:C1820372 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 namespace: medical_genetics 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. xref: UMLS:C0015422 xref: UMLS:C1806781 xref: UMLS:C2350002 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 namespace: medical_genetics def: "`Hyperkeratosis` (HP:0000962) affecting the palm of the hand." [HPO:probinson] xref: UMLS:C0870082 xref: UMLS:C1184147 is_a: HP:0000962 ! Hyperkeratosis created_by: peter creation_date: 2010-04-24T03:53:19Z [Term] id: HP:0010766 name: Ectopic calcifications namespace: medical_genetics xref: UMLS:C0006660 xref: UMLS:C0175895 xref: UMLS:C0574895 xref: UMLS:C1533591 xref: UMLS:C1879982 is_a: HP:0000924 ! Abnormality of the musculoskeletal system created_by: doelkens creation_date: 2010-04-27T09:52:59Z [Term] id: HP:0010767 name: Sacrococcygeal pilonidal abnormality namespace: medical_genetics def: "The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds." [HPO:probinson] xref: UMLS:C0000768 xref: UMLS:C1550293 xref: UMLS:C1550300 xref: UMLS:C1704258 is_a: HP:0005107 ! Abnormality of the sacrum created_by: gdoelken creation_date: 2010-04-29T09:45:21Z [Term] id: HP:0010768 name: Pilonidal cyst namespace: medical_genetics def: "A cyst in the region of the intergluteal cleft." [HPO:probinson] xref: UMLS:C0031925 xref: UMLS:C1546736 is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality created_by: gdoelken creation_date: 2010-04-29T09:52:30Z [Term] id: HP:0010769 name: Pilonidal sinus namespace: medical_genetics xref: UMLS:C0031925 is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality created_by: gdoelken creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010770 name: Pilonidal fistula namespace: medical_genetics xref: UMLS:C0031925 is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality created_by: gdoelken creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010771 name: Pilonidal abscess namespace: medical_genetics xref: UMLS:C0342988 is_a: HP:0002722 ! Abscess formation in any organ is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality created_by: gdoelken creation_date: 2010-04-29T09:55:15Z [Term] id: HP:0010772 name: Anomalous pulmonary venous return namespace: medical_genetics 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 is_a: HP:0004930 ! Abnormality of the pulmonary vasculature created_by: gdoelken creation_date: 2010-04-29T10:02:26Z [Term] id: HP:0010773 name: Partial anomalous pulmonary venous return namespace: medical_genetics def: "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." [HPO:probinson] xref: UMLS:C0158634 is_a: HP:0010772 ! Anomalous pulmonary venous return created_by: gdoelken creation_date: 2010-04-29T10:03:02Z [Term] id: HP:0010774 name: Cor triatriatrum namespace: medical_genetics def: "The presence of an additional membrane in the left or right cardiac atrium which results in the subdivision of the affected atrium (and thus in total three atria, whence the name)." [HPO:probinson] xref: UMLS:C0018787 xref: UMLS:C0056331 is_a: HP:0005120 ! Abnormality of the cardiac atria created_by: gdoelken creation_date: 2010-04-29T10:07:24Z [Term] id: HP:0010775 name: Vascular ring namespace: medical_genetics 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] xref: UMLS:C0221214 is_a: HP:0001679 ! Abnormality of the aorta created_by: gdoelken creation_date: 2010-04-29T10:18:47Z [Term] id: HP:0010776 name: Tracheobronchmegaly namespace: medical_genetics 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: gdoelken creation_date: 2010-04-29T10:22:55Z [Term] id: HP:0010777 name: Bronchomegaly namespace: medical_genetics 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: gdoelken creation_date: 2010-04-29T10:25:22Z [Term] id: HP:0010778 name: Tracheomegaly namespace: medical_genetics def: "Marked widening of the trachea." [HPO:probinson] is_a: HP:0002778 ! Abnormality of the trachea created_by: gdoelken creation_date: 2010-04-29T10:28:51Z [Term] id: HP:0010779 name: Large pelvis namespace: medical_genetics def: "The presence of an abnormally large pelvis." [HPO:probinson] xref: UMLS:C0230276 is_a: HP:0002644 ! Abnormality of the pelvis created_by: gdoelken creation_date: 2010-04-29T11:03:39Z [Term] id: HP:0010780 name: Hyperacusis namespace: medical_genetics def: "Over-sensitivity to certain frequency ranges of sound." [HPO:probinson] xref: UMLS:C0034880 xref: UMLS:C2189399 is_a: HP:0000364 ! Hearing abnormality created_by: doelkens creation_date: 2010-04-29T04:42:44Z [Term] id: HP:0010781 name: Skin dimples namespace: medical_genetics 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 is_a: HP:0000951 ! Abnormality of the skin created_by: peter creation_date: 2010-04-30T11:34:41Z [Term] id: HP:0010782 name: Shoulder dimples namespace: medical_genetics def: "A subtype of `skin dimples` (HP:0010781) occurring in the shoulder region." [HPO:probinson] xref: UMLS:C0037004 xref: UMLS:C0332471 xref: UMLS:C1283792 is_a: HP:0010781 ! Skin dimples created_by: peter creation_date: 2010-04-30T11:36:51Z [Term] id: HP:0010783 name: Erythema namespace: medical_genetics def: "Redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] xref: UMLS:C0041834 is_a: HP:0000951 ! Abnormality of the skin created_by: peter creation_date: 2010-04-30T11:40:43Z [Term] id: HP:0010784 name: Uterine neoplasm namespace: medical_genetics def: "A `neoplasm` (MPATH:218) of the `uterus` (FMA:17558)." [HPO:probinson] synonym: "Uterine neoplasia" RELATED [] xref: UMLS:C0042138 is_a: HP:0000130 ! Abnormality of the uterus is_a: HP:0010787 ! Genital neoplasm created_by: gdoelken creation_date: 2010-05-04T09:35:15Z [Term] id: HP:0010785 name: Gonadal neoplasm namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of a `gonad` (FMA:18250)." [HPO:probinson] synonym: "Gonadal neoplasia" RELATED [] xref: UMLS:C0018067 xref: UMLS:C0027651 is_a: HP:0010787 ! Genital neoplasm created_by: gdoelken creation_date: 2010-05-04T09:44:41Z [Term] id: HP:0010786 name: Urinary tract neoplasm namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `urinary system` (FMA:7159)." [HPO:probinson] synonym: "Urinary tract neoplasia" RELATED [] xref: UMLS:C0042076 is_a: HP:0007379 ! Genitourinary tract neoplasm created_by: gdoelken creation_date: 2010-05-04T09:45:25Z [Term] id: HP:0010787 name: Genital neoplasm namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `genital system` (7160)." [HPO:probinson] synonym: "Genital neoplasia" RELATED [] xref: UMLS:C0679347 is_a: HP:0000078 ! Abnormality of the genital system is_a: HP:0007379 ! Genitourinary tract neoplasm created_by: gdoelken creation_date: 2010-05-04T09:47:50Z [Term] id: HP:0010788 name: Testicular neoplasm namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `testis` (FMA:7210)." [HPO:probinson] synonym: "Testicular neoplasia" RELATED [] xref: UMLS:C0039590 is_a: HP:0000035 ! Abnormality of the testis is_a: HP:0010785 ! Gonadal neoplasm created_by: gdoelken creation_date: 2010-05-04T09:48:35Z [Term] id: HP:0010789 name: Abnormality of the Leydig cells namespace: medical_genetics xref: UMLS:C0000768 xref: UMLS:C0023602 xref: UMLS:C1704258 is_a: HP:0000035 ! Abnormality of the testis created_by: gdoelken creation_date: 2010-05-04T09:50:45Z [Term] id: HP:0010790 name: Hyoplasia of the Leydig cells namespace: medical_genetics def: "Underdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone." [HPO:probinson] xref: UMLS:C0023602 is_a: HP:0010789 ! Abnormality of the Leydig cells created_by: gdoelken creation_date: 2010-05-04T09:51:03Z [Term] id: HP:0010791 name: Hyperplasia of the Leydig cells namespace: medical_genetics def: "Hypertrophy or overdevelopment of the interstitial (Leydig) cells of the testis. These cells produce testosterone." [HPO:probinson] xref: UMLS:C0020507 xref: UMLS:C0023602 is_a: HP:0010789 ! Abnormality of the Leydig cells created_by: gdoelken creation_date: 2010-05-04T09:51:26Z [Term] id: HP:0010793 name: Bifid/duplicated nails namespace: medical_genetics xref: UMLS:C0027342 xref: UMLS:C0332597 xref: UMLS:C0443152 is_a: HP:0001597 ! Abnormality of the nail created_by: gdoelken creation_date: 2010-05-04T10:34:02Z [Term] id: HP:0010794 name: Impaired visuospatial constructive cognition namespace: medical_genetics def: "Reduced ability affecting mainly the visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales (DAS), which test a person's strengths and weaknesses across a range of intellectual abilities). Impaired visuospatial constructive cognition is one of the characteristic featrues of most patients with Willimas-Beuren Syndrome." [HPO:sdoelken] xref: UMLS:C0338656 xref: UMLS:C0441513 xref: UMLS:C1527177 xref: UMLS:C2003875 xref: UMLS:C2364064 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality is_a: HP:0100543 ! Cognitive impairment created_by: sandra1 creation_date: 2010-05-10T01:43:01Z [Term] id: HP:0010795 name: Cerebellar glioma namespace: medical_genetics def: "A `glioma` (HP:0009733) affecting the `cerebellum` (FMA:67944)." [HPO:probinson] is_a: HP:0009733 ! Glioma created_by: peter creation_date: 2010-06-25T09:08:32Z [Term] id: HP:0010796 name: Brainstem glioma namespace: medical_genetics def: "A `glioma` (HP:0009733) affecting the `brainstem` (FMA:79876)." [HPO:probinson] is_a: HP:0009733 ! Glioma created_by: peter creation_date: 2010-06-25T09:10:45Z [Term] id: HP:0010797 name: Hemangioblastoma namespace: medical_genetics def: "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." [HPO:probinson] synonym: "Haemangioblastoma " EXACT [] is_a: HP:0100006 ! Neoplasm of the central nervous system created_by: peter creation_date: 2010-06-25T09:18:32Z [Term] id: HP:0010798 name: Lip freckle namespace: medical_genetics 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. synonym: "Lip lentigo" EXACT [] is_a: HP:0000159 ! Lip abnormality created_by: peter creation_date: 2010-06-26T01:59:19Z [Term] id: HP:0010799 name: Pinealoma namespace: medical_genetics def: "A `neoplasm` (MPATH:218) of the `pineal gland` (FMA:62033)." [HPO:probinson] is_a: HP:0100006 ! Neoplasm of the central nervous system created_by: peter creation_date: 2010-06-25T09:27:58Z [Term] id: HP:0010800 name: Absent cupid's bow namespace: medical_genetics 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. is_a: HP:0000177 ! Abnormality of upper lip created_by: peter creation_date: 2010-06-26T02:01:31Z [Term] id: HP:0010801 name: Underdeveloped nasolabial fold namespace: medical_genetics 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] 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 namespace: medical_genetics 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 namespace: medical_genetics def: "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)." [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. is_a: HP:0000177 ! Abnormality of upper lip created_by: peter creation_date: 2010-06-26T02:30:13Z [Term] id: HP:0010804 name: Tented upper lip vermilion namespace: medical_genetics 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. synonym: "Tented mouth" RELATED [] is_a: HP:0000177 ! Abnormality of upper lip created_by: peter creation_date: 2010-06-26T02:32:35Z [Term] id: HP:0010805 name: Upturned corners of mouth namespace: medical_genetics 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. is_a: HP:0000153 ! Abnormality of the mouth created_by: peter creation_date: 2010-06-26T03:17:08Z [Term] id: HP:0010806 name: U-Shaped upper lip vermilion namespace: medical_genetics 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-like mouth" EXACT [] synonym: "Carp-shaped mouth" EXACT [] synonym: "Large, carp-shaped mouth" EXACT [] synonym: "Wide, carp-shaped mouth" EXACT [] xref: UMLS:C0007284 xref: UMLS:C0226896 xref: UMLS:C0230028 xref: UMLS:C0328038 xref: UMLS:C0332464 xref: UMLS:C0549177 xref: UMLS:C0677526 xref: UMLS:C1267547 xref: UMLS:C1278910 xref: UMLS:C1853245 is_a: HP:0000177 ! Abnormality of upper lip created_by: peter creation_date: 2010-06-26T03:25:01Z [Term] id: HP:0010807 name: Open bite namespace: medical_genetics 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. is_a: HP:0000692 ! Misalignment of teeth created_by: peter creation_date: 2010-07-02T09:30:43Z [Term] id: HP:0010808 name: Protruding tongue namespace: medical_genetics 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. synonym: "Tongue protrusion" EXACT [] 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 namespace: medical_genetics def: "Increased width of the `uvula` (FMA:55022) (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. is_a: HP:0000172 ! Abnormality of the uvula created_by: peter creation_date: 2010-07-05T10:22:01Z [Term] id: HP:0010810 name: Long uvula namespace: medical_genetics def: "Increased length of the `uvula` (FMA:55022)." [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. is_a: HP:0000172 ! Abnormality of the uvula created_by: peter creation_date: 2010-07-05T10:23:52Z [Term] id: HP:0010811 name: Narrow uvula namespace: medical_genetics def: "Decreased width of the `uvula` (FMA:55022)." [pmid:19125428] is_a: HP:0000172 ! Abnormality of the uvula created_by: peter creation_date: 2010-07-05T10:25:14Z [Term] id: HP:0010812 name: Short uvula namespace: medical_genetics 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 namespace: medical_genetics 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. 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 namespace: medical_genetics 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. is_a: HP:0010721 ! Abnormal hair whorl created_by: peter creation_date: 2010-07-05T11:13:42Z [Term] id: HP:0010815 name: Nevus sebaceous namespace: medical_genetics 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 namespace: medical_genetics 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:0000951 ! Abnormality of the skin created_by: peter creation_date: 2010-07-10T12:12:32Z [Term] id: HP:0010817 name: Linear nevus sebaceous namespace: medical_genetics def: "A type of `nevus sebaceous` (HP:0010815) with a linear form, raised borders and yellowish color." [HPO:probinson] is_a: HP:0010815 ! Nevus sebaceous created_by: peter creation_date: 2010-07-10T12:17:17Z [Term] id: HP:0010818 name: Tonic seizures namespace: medical_genetics def: "A type of `seizure` (HP:0001250) 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." [HPO:probinson] is_a: HP:0001250 ! Seizures created_by: peter creation_date: 2010-07-10T03:03:51Z [Term] id: HP:0010819 name: Atonic seizures namespace: medical_genetics def: "A type of `seizure` (HP:0001250) characterized by a suddenloss of musle tone. Usually, consciousness is retained. In an atonic seizure, the eyelids may droop, the head may nod, and the person may drop things and fall to the ground." [HPO:probinson] synonym: "akinetic seizure" EXACT [] synonym: "drop attacks" EXACT [] synonym: "drop seizures" EXACT [] is_a: HP:0001250 ! Seizures created_by: peter creation_date: 2010-07-10T03:13:06Z [Term] id: HP:0010820 name: Dacrystic seizures namespace: medical_genetics def: "A type of `seizure` (HP:0001250) 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:0001250 ! Seizures created_by: peter creation_date: 2010-07-10T03:23:32Z [Term] id: HP:0010821 name: Gelastic seizures namespace: medical_genetics def: "A type of `seizure` (HP:0001250) 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:0001250 ! Seizures created_by: peter creation_date: 2010-07-10T03:27:12Z [Term] id: HP:0010822 name: Scintillating scotoma namespace: medical_genetics 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 namespace: medical_genetics def: "An overlap of the bony plates of the skull in an infant, with or without early closure." [HPO:probinson] is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures created_by: peter creation_date: 2010-07-10T03:46:25Z [Term] id: HP:0010824 name: Abnormality of the fifth cranial nerve namespace: medical_genetics def: "An abormality of the `fifth cranial nerve` (FMA:50866)." [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 created_by: peter creation_date: 2010-07-10T03:51:21Z [Term] id: HP:0010825 name: Abnormality of the eleventh cranial nerve namespace: medical_genetics def: "Abnormality of the `eleventh cranial nerve` (FMA:6720)." [HPO:probinson] synonym: "Abnormality of the accessory nerve" EXACT [] is_a: HP:0001291 ! Abnormality of the cranial nerves created_by: peter creation_date: 2010-07-10T03:54:53Z [Term] id: HP:0010826 name: Abnormality of the twelfth cranial nerve namespace: medical_genetics def: "Abnormality of the `twelfth cranial nerve` (FMA:50871)." [HPO:probinson] synonym: "Abnormality of the hypoglossal nerve " EXACT [] is_a: HP:0001291 ! Abnormality of the cranial nerves created_by: peter creation_date: 2010-07-10T03:58:00Z [Term] id: HP:0010827 name: Abnormality of the seventh cranial nerve namespace: medical_genetics def: "Abnormality of the `seventh cranial nerve` (FMA:50868) 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 created_by: peter creation_date: 2010-07-10T04:04:55Z [Term] id: HP:0010828 name: Hemifacial spasm namespace: medical_genetics 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. is_a: HP:0003739 ! Myoclonic spasms created_by: peter creation_date: 2010-07-10T04:15:33Z [Term] id: HP:0010829 name: Loss of temperature sensation namespace: medical_genetics is_a: HP:0001333 ! Abnormality of the sensory nervous system created_by: peter creation_date: 2010-07-10T07:08:10Z [Term] id: HP:0010830 name: Loss of touch sensation namespace: medical_genetics synonym: "Loss of tactile sensation" EXACT [] is_a: HP:0001333 ! Abnormality of the sensory nervous system created_by: peter creation_date: 2010-07-10T07:09:54Z [Term] id: HP:0010831 name: Impaired proprioception namespace: medical_genetics def: "A loss or impairment of the sensation of the relative position of parts of the body and joint position." [HPO:probinson] is_a: HP:0010870 ! Abnormality of proprioception created_by: peter creation_date: 2010-07-10T07:12:53Z [Term] id: HP:0010832 name: Abnormality of pain sensation namespace: medical_genetics 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:0001333 ! Abnormality of the sensory nervous system created_by: peter creation_date: 2010-07-10T07:15:58Z [Term] id: HP:0010833 name: Spontaneous pain sensation namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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:0001333 ! Abnormality of the sensory nervous system created_by: peter creation_date: 2010-07-10T07:28:04Z [Term] id: HP:0010836 name: Abnormality of copper homeostasis namespace: medical_genetics def: "An `abnormal` ( PATO:0000460) `concentration` (PATO:0000033) of `copper` (CHEBI:28694)." [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. is_a: HP:0011030 ! Abnormality of transition element cation homeostasis created_by: peter creation_date: 2010-07-10T07:39:09Z [Term] id: HP:0010837 name: Decreased serum ceruloplasmin namespace: medical_genetics def: "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)." [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 created_by: peter creation_date: 2010-07-10T07:39:36Z [Term] id: HP:0010838 name: High nonceruloplasmin-bound serum copper namespace: medical_genetics def: "An `increased concentration` (PATO:0001162) of non `ceruloplasmin` (PR:000005794) bound `copper` (CHEBI:28694) in the `blood` (FMA:9670)." [HPO:probinson] is_a: HP:0010836 ! Abnormality of copper homeostasis created_by: peter creation_date: 2010-07-10T07:43:39Z [Term] id: HP:0010839 name: Increased urinary copper concentration namespace: medical_genetics def: "An `increased concentration` (PATO:0001162) of `copper` (CHEBI:28694) in the `urine` (FMA:12274)." [HPO:probinson] is_a: HP:0010836 ! Abnormality of copper homeostasis created_by: peter creation_date: 2010-07-10T07:44:50Z [Term] id: HP:0010840 name: Focal EEG Abnormality namespace: medical_genetics def: "A localized (focal) abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG)." [HPO:probinson] is_a: HP:0002353 ! EEG abnormalities created_by: peter creation_date: 2010-07-10T07:53:12Z [Term] id: HP:0010841 name: Multifocal EEG abnormality namespace: medical_genetics def: "A abnormality in cerebral electrical activity recorded along the scalp by electroencephalography (EEG) and being identified at multiple locations (foci)." [HPO:probinson] is_a: HP:0002353 ! EEG abnormalities created_by: peter creation_date: 2010-07-10T08:01:28Z [Term] id: HP:0010842 name: EEG: generalized (poly)spikes/sharp waves namespace: medical_genetics comment: Spikes (<70 ms) and sharp waves (70-200 ms) are sharp transient waves that have a strong association with epilepsy. No difference is noted in terms of clinical significance of spikes and sharp waves. Significant spikes usually are followed by a slow wave. synonym: "EEG: generalised (poly)spikes/sharp waves" EXACT [] is_a: HP:0010850 ! EEG: spike-wave complexes created_by: peter creation_date: 2010-07-10T08:04:33Z [Term] id: HP:0010843 name: EEG: focal slow activity namespace: medical_genetics def: "Focal (localized) slow activity reflects focal dysfunction, not diffuse dysfunction (i.e., encephalopathy)." [HPO:probinson] synonym: "EEG: localised slow activity" EXACT [] synonym: "EEG: localized slow activity" EXACT [] is_a: HP:0002353 ! EEG abnormalities created_by: peter creation_date: 2010-07-10T08:10:59Z [Term] id: HP:0010844 name: EEG: multifocal slow activity namespace: medical_genetics is_a: HP:0002353 ! EEG abnormalities created_by: peter creation_date: 2010-07-10T08:13:54Z [Term] id: HP:0010845 name: EEG: generalized slow activity namespace: medical_genetics 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 [] is_a: HP:0002353 ! EEG abnormalities created_by: peter creation_date: 2010-07-10T08:15:05Z [Term] id: HP:0010846 name: EEG: persistent abnormal rhythmic activity namespace: medical_genetics is_a: HP:0002353 ! EEG abnormalities created_by: peter creation_date: 2010-07-10T08:18:01Z [Term] id: HP:0010847 name: EEG: spike-wave complexes (<2.5 Hz) namespace: medical_genetics 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: spike-wave complexes created_by: peter creation_date: 2010-07-10T08:18:25Z [Term] id: HP:0010848 name: EEG: spike-wave complexes (2.5-3.5 Hz) namespace: medical_genetics def: "The presence of complexes of spikes and waves (2.5-3.5 Hz) in electroencephalography (EEG)." [HPO:probinson] is_a: HP:0010850 ! EEG: spike-wave complexes created_by: peter creation_date: 2010-07-10T08:21:13Z [Term] id: HP:0010849 name: EEG: spike-wave complexes (>3.5 Hz) namespace: medical_genetics def: "The presence of complexes of spikes and waves (>3.5 Hz) in electroencephalography (EEG)." [HPO:probinson] is_a: HP:0010850 ! EEG: spike-wave complexes created_by: peter creation_date: 2010-07-10T08:22:40Z [Term] id: HP:0010850 name: EEG: spike-wave complexes namespace: medical_genetics 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:0002353 ! EEG abnormalities created_by: peter creation_date: 2010-07-10T08:23:28Z [Term] id: HP:0010851 name: EEG: burst suppression namespace: medical_genetics 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:0010857 ! EEG: periodic abnormalities created_by: peter creation_date: 2010-07-11T08:02:41Z [Term] id: HP:0010852 name: EEG: photoparoxysmal response namespace: medical_genetics 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. is_a: HP:0002353 ! EEG abnormalities created_by: peter creation_date: 2010-07-11T08:10:17Z [Term] id: HP:0010853 name: EEG: periodic lateralized epileptiform discharges namespace: medical_genetics 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. is_a: HP:0010840 ! Focal EEG Abnormality created_by: peter creation_date: 2010-07-11T08:25:02Z [Term] id: HP:0010854 name: EEG: generalized low amplitude activity namespace: medical_genetics 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:0002353 ! EEG abnormalities created_by: peter creation_date: 2010-07-11T08:34:13Z [Term] id: HP:0010855 name: EEG: localized low amplitude activity namespace: medical_genetics 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:0002353 ! EEG abnormalities created_by: peter creation_date: 2010-07-11T08:36:03Z [Term] id: HP:0010856 name: EEG: periodic complexes namespace: medical_genetics is_a: HP:0010857 ! EEG: periodic abnormalities created_by: peter creation_date: 2010-07-11T08:38:52Z [Term] id: HP:0010857 name: EEG: periodic abnormalities namespace: medical_genetics def: "Periodically recurring abnormalities in the EEG." [HPO:probinson] is_a: HP:0002353 ! EEG abnormalities created_by: peter creation_date: 2010-07-11T08:39:39Z [Term] id: HP:0010858 name: EEG: hyperventilation-induced epileptiform discharges namespace: medical_genetics 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:0002353 ! EEG abnormalities created_by: peter creation_date: 2010-07-11T08:44:38Z [Term] id: HP:0010859 name: Frank breech presentation namespace: medical_genetics def: "A kind of `breech presentation` (HP:0001623) in which the hips are flexed and the knees are extended." [HPO:curators] is_a: HP:0001623 ! Breech presentation created_by: peter creation_date: 2010-08-03T12:33:15Z [Term] id: HP:0010860 name: Complete breech presentation namespace: medical_genetics def: "A kind of `breech presentation` (HP:0001623) in which the hips are flexed and the knees are flexed." [HPO:probinson] is_a: HP:0001623 ! Breech presentation created_by: peter creation_date: 2010-08-03T12:34:30Z [Term] id: HP:0010861 name: Incomplete breech presentation namespace: medical_genetics def: "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." [HPO:probinson] is_a: HP:0001623 ! Breech presentation created_by: peter creation_date: 2010-08-03T12:34:57Z [Term] id: HP:0010862 name: Delayed fine motor development namespace: medical_genetics def: "A type of `motor retardation` characterized by an delay in acquiring the ability to control the fingers and hands." [HPO:probinson] is_a: HP:0001270 ! Motor retardation created_by: peter creation_date: 2010-08-03T05:44:08Z [Term] id: HP:0010863 name: Receptive language delay namespace: medical_genetics def: "A kind of `language delay` (HP:0002336) characterized by a delay primarily in the acquisition of the ability to understand the speech of others." [HPO:probinson] is_a: HP:0000750 ! Impaired language development created_by: peter creation_date: 2010-08-03T06:02:52Z [Term] id: HP:0010864 name: Mental retardation, severe namespace: medical_genetics def: "Moderate 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: "Severe mental retardation" EXACT [] is_a: HP:0001249 ! Mental retardation created_by: peter creation_date: 2010-08-03T06:29:35Z [Term] id: HP:0010865 name: Oppositional defiant disorder namespace: medical_genetics 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 ! Behavioural/Psychiatric Abnormality created_by: peter creation_date: 2010-08-03T07:09:09Z [Term] id: HP:0010866 name: Abdominal wall defect namespace: medical_genetics def: "An `incomplete closure` (PATO:0000609) of the `abdominal wall` (FMA:259054)." [HPO:probinson] synonym: "Congenital anterior abdominal wall defect" EXACT [] is_a: HP:0004298 ! Abnormality of the abdominal wall is_a: HP:0100656 ! Thoracoabdominal wall defects created_by: peter creation_date: 2010-08-03T09:55:15Z [Term] id: HP:0010867 name: Dyssynergia namespace: medical_genetics 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 created_by: peter creation_date: 2010-08-18T01:17:10Z [Term] id: HP:0010868 name: Ocular dyssynergia namespace: medical_genetics def: "A type of `dyssynergia` (HP:0010867) 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 created_by: peter creation_date: 2010-08-18T01:20:05Z [Term] id: HP:0010869 name: Asynergia namespace: medical_genetics def: "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." [HPO:probinson] is_a: HP:0010867 ! Dyssynergia created_by: peter creation_date: 2010-08-18T01:39:38Z [Term] id: HP:0010870 name: Abnormality of proprioception namespace: medical_genetics def: "Abnormality of the sensation of the relative positioning of the parts of the body owing to a sensory neurological deficit." [HPO:probinson] is_a: HP:0001333 ! Abnormality of the sensory nervous system created_by: peter creation_date: 2010-08-18T01:56:31Z [Term] id: HP:0010871 name: Sensory ataxia namespace: medical_genetics 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] is_a: HP:0010870 ! Abnormality of proprioception created_by: peter creation_date: 2010-08-18T01:57:54Z [Term] id: HP:0010872 name: EKG: T-wave inversion namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 ! Abnormality of the tendons created_by: peter creation_date: 2010-08-30T11:01:16Z [Term] id: HP:0010875 name: Chaddock reflex namespace: medical_genetics 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 ! Pyramidal signs created_by: peter creation_date: 2010-09-07T12:11:07Z [Term] id: HP:0010876 name: Abnormality of circulating protein level namespace: medical_genetics def: "An abnormal level of a circulating `protein` (CHEBI:16541) in the `blood` (FMA:9670)." [HPO:probinson] synonym: "Serum protein abnormality" RELATED [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2010-09-07T01:51:12Z [Term] id: HP:0010877 name: Unilateral strabismus namespace: medical_genetics def: "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." [HPO:probinson] is_a: HP:0000486 ! Strabismus created_by: peter creation_date: 2010-09-08T10:47:57Z [Term] id: HP:0010878 name: Fetal cystic hygroma namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0000476 ! Cystic hygroma created_by: peter creation_date: 2010-09-13T08:08:47Z [Term] id: HP:0010880 name: Increased nuchal translucency namespace: medical_genetics 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 namespace: medical_genetics 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 and umbilical cord created_by: peter creation_date: 2010-09-13T08:24:04Z [Term] id: HP:0010882 name: Pulmonary valve atresia namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics def: "Shortening of the extremities affecting primarily the distal parts of the limbs (hands and feet) in relation to the otherl segments of the limbs." [HPO:probinson] is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities is_a: HP:0010494 ! Acromelia involving the lower limbs created_by: peter creation_date: 2010-09-20T11:17:40Z [Term] id: HP:0010885 name: Aseptic necrosis namespace: medical_genetics 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:0000924 ! Abnormality of the musculoskeletal system created_by: gdoelken creation_date: 2010-09-24T10:11:05Z [Term] id: HP:0010886 name: Osteochondrosis dissecans namespace: medical_genetics 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 ! Abnormality of the joints is_a: HP:0100323 ! Juvenile aseptic necrosis created_by: gdoelken creation_date: 2010-09-24T10:15:07Z [Term] id: HP:0010888 name: Morbus Koehler namespace: medical_genetics def: "Morbus Koehler is a `Juvenile aseptic necrosis` (HP:0100323) affecting the Os naviculare pedis." [HPO:sdoelken] is_a: HP:0100323 ! Juvenile aseptic necrosis is_a: HP:0100339 ! Abnormality of the os naviculare pedis created_by: gdoelken creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010889 name: Morbus Kienboeck namespace: medical_genetics def: "Morbus Kienboeck is a `Juvenile aseptic necrosis` (HP:0100323) 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 created_by: gdoelken creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010890 name: Morbus Osgood-Schlatter namespace: medical_genetics def: "Morbus Osgood-Schlatter is a `Juvenile aseptic necrosis` (HP:0100323) 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 created_by: gdoelken creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010891 name: Scheuermann disease namespace: medical_genetics 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 verterbal 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: "Morbus Scheuermann" EXACT [] synonym: "Scheuermann kyphosis" EXACT [] synonym: "Sherman's Disease" EXACT [] is_a: HP:0003468 ! Abnormality of the vertebrae is_a: HP:0100323 ! Juvenile aseptic necrosis created_by: gdoelken creation_date: 2010-09-25T11:04:19Z [Term] id: HP:0010892 name: Abnormality of branched chain family amino acid metabolism namespace: medical_genetics def: "Abnormality of a `branched chain family amino acid metabolic process` (GO:0009081)." [HPO:probinson] is_a: HP:0004337 ! Abnormality of amino acid metabolism created_by: peter creation_date: 2010-11-11T02:53:04Z [Term] id: HP:0010893 name: Abnormality of phenylalanine metabolism namespace: medical_genetics def: "An abnormality of `L-phenylalanine metabolic process` (GO:0006558)." [HPO:probinson] is_a: HP:0004338 ! Abnormality of aromatic amino acid family metabolism created_by: peter creation_date: 2010-11-11T03:23:30Z [Term] id: HP:0010894 name: Abnormality of serine family amino acid metabolism namespace: medical_genetics def: "An abnormality of a `serine family amino acid metabolic process` (GO:0009069)." [HPO:probinson] is_a: HP:0004337 ! Abnormality of amino acid metabolism created_by: peter creation_date: 2010-11-30T05:21:41Z [Term] id: HP:0010895 name: Abnormality of glycine metabolism namespace: medical_genetics def: "An abnormality of a `glycine metabolic process` (GO:0006544)." [HPO:gcarletti] is_a: HP:0010894 ! Abnormality of serine family amino acid metabolism created_by: peter creation_date: 2010-11-30T05:27:24Z [Term] id: HP:0010896 name: Hypersarcosinemia namespace: medical_genetics def: "An elevated plasma concentration of `sarcosine` (CHEBI:15611)." [HPO:gcarletti] comment: Sarcosine is the N-methyl derivative of glycine. is_a: HP:0010898 ! Abnormality of sarcosine metabolism created_by: peter creation_date: 2010-11-30T05:38:24Z [Term] id: HP:0010897 name: Hypersarcosinuria namespace: medical_genetics def: "An elevated urinary concentration of `sarcosine` (CHEBI:15611)." [HPO:gcarletti] is_a: HP:0010898 ! Abnormality of sarcosine metabolism created_by: peter creation_date: 2010-11-30T05:43:45Z [Term] id: HP:0010898 name: Abnormality of sarcosine metabolism namespace: medical_genetics def: "An abnormality of the metabolism of `sarcosine` (CHEBI:15611)." [HPO:probinson] is_a: HP:0010895 ! Abnormality of glycine metabolism created_by: peter creation_date: 2010-11-30T05:44:10Z [Term] id: HP:0010899 name: Abnormality of aspartate family amino acid metabolism namespace: medical_genetics def: "Abnormality of a `aspartate family amino acid metabolic process` (GO:0009066)." [HPO:probinson] is_a: HP:0004337 ! Abnormality of amino acid metabolism created_by: peter creation_date: 2010-12-02T04:40:57Z [Term] id: HP:0010900 name: Abnormality of threonine metabolism namespace: medical_genetics def: "Abnormality of a `threonine metabolic process` (GO:0006566)." [HPO:probinson] is_a: HP:0010899 ! Abnormality of aspartate family amino acid metabolism created_by: peter creation_date: 2010-12-02T04:42:19Z [Term] id: HP:0010901 name: Abnormality of methionine metabolism namespace: medical_genetics def: "An abnormality of `methionine metabolic process` (GO:0006555)." [HPO:probinson] is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism is_a: HP:0010899 ! Abnormality of aspartate family amino acid metabolism created_by: peter creation_date: 2010-12-02T05:15:22Z [Term] id: HP:0010902 name: Abnormality of glutamine family amino acid metabolism namespace: medical_genetics def: "An abnormality of a `glutamine family amino acid metabolic process` (GO:0009064)." [HPO:probinson] is_a: HP:0004337 ! Abnormality of amino acid metabolism created_by: peter creation_date: 2010-12-03T04:30:22Z [Term] id: HP:0010903 name: Abnormality of glutamine metabolism namespace: medical_genetics def: "An abnormality of a `glutamine metabolic process` (GO:0006541)." [HPO:probinson] is_a: HP:0010902 ! Abnormality of glutamine family amino acid metabolism created_by: peter creation_date: 2010-12-03T04:31:22Z [Term] id: HP:0010904 name: Abnormality of histidine family amino acid metabolism namespace: medical_genetics def: "An abnormality of a `histidine family amino acid metabolic process` (GO:0009075)." [HPO:probinson] comment: The histidine family amino acids include only histidine. This term is kept for consistency with the other grouping terms that are based on the structure of the Gene Ontology. is_a: HP:0004337 ! Abnormality of amino acid metabolism created_by: peter creation_date: 2010-12-08T07:13:56Z [Term] id: HP:0010905 name: Abnormality of histidine metabolism namespace: medical_genetics def: "An abnormality of `histidine metabolic process` (GO:0006547)." [HPO:probinson] is_a: HP:0010904 ! Abnormality of histidine family amino acid metabolism created_by: peter creation_date: 2010-12-08T07:15:34Z [Term] id: HP:0010906 name: Hyperhistidinemia namespace: medical_genetics def: "An increased concentration of `histidine` (CHEBI:27570) in the `blood` (FMA:9670)." [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:0010905 ! Abnormality of histidine metabolism created_by: peter creation_date: 2010-12-08T07:27:47Z [Term] id: HP:0010907 name: Abnormality of proline metabolism namespace: medical_genetics def: "An abnormality of a `proline metabolic process` (GO:0006560)." [HPO:gcarletti] is_a: HP:0010902 ! Abnormality of glutamine family amino acid metabolism created_by: peter creation_date: 2010-12-08T07:50:08Z [Term] id: HP:0010908 name: Abnormality of lysine metabolism namespace: medical_genetics def: "An abnormality of a `lysine metabolic process` (GO:0006553)." [HPO:gcarletti] is_a: HP:0010899 ! Abnormality of aspartate family amino acid metabolism created_by: peter creation_date: 2010-12-08T08:05:55Z [Term] id: HP:0010909 name: Abnormality of arginine metabolism namespace: medical_genetics def: "An abnormality of a `arginine metabolic process` (GO:0006525)." [HPO:probinson] is_a: HP:0010902 ! Abnormality of glutamine family amino acid metabolism created_by: peter creation_date: 2010-12-08T08:25:05Z [Term] id: HP:0010910 name: Hypervalinemia namespace: medical_genetics def: "An increased concentration of `valine` (CHEBI:27266) in the `blood` (FMA:9670)." [HPO:gcarletti] is_a: HP:0010914 ! Abnormality of valine metabolism created_by: peter creation_date: 2010-12-08T08:44:27Z [Term] id: HP:0010911 name: Hyperleucinemia namespace: medical_genetics def: "An increased concentration of `leucine` (CHEBI:25017) 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 created_by: peter creation_date: 2010-12-08T08:45:56Z [Term] id: HP:0010912 name: Abnormality of isoleucine metabolism namespace: medical_genetics def: "An abnormality of a `isoleucine metabolic process` (GO:0006549)." [HPO:probinson] is_a: HP:0010892 ! Abnormality of branched chain family amino acid metabolism created_by: peter creation_date: 2010-12-08T08:47:47Z [Term] id: HP:0010913 name: Hyperisoleucinemia namespace: medical_genetics def: "An increased concentration of `isoleucine` (CHEBI:24898) in the `blood` (FMA:9670)." [HPO:gcarletti] comment: Normal isoleucine blood levels are around 60-80 micromole per liter. is_a: HP:0010912 ! Abnormality of isoleucine metabolism created_by: peter creation_date: 2010-12-08T08:49:42Z [Term] id: HP:0010914 name: Abnormality of valine metabolism namespace: medical_genetics def: "An abnormality of a `valine metabolic process` (GO:0006573)." [HPO:probinson] is_a: HP:0010892 ! Abnormality of branched chain family amino acid metabolism created_by: peter creation_date: 2010-12-08T08:51:14Z [Term] id: HP:0010915 name: Abnormality of pyruvate family amino acid metabolism namespace: medical_genetics def: "An abnormality of a `pyruvate family amino acid metabolic process` (GO:0009078)." [HPO:probinson] is_a: HP:0004337 ! Abnormality of amino acid metabolism created_by: peter creation_date: 2010-12-08T08:55:53Z [Term] id: HP:0010916 name: Abnormality of alanine metabolism namespace: medical_genetics def: "An abnormality of an `alanine metabolic process` (GO:0006522)." [HPO:gcarletti] is_a: HP:0010915 ! Abnormality of pyruvate family amino acid metabolism created_by: peter creation_date: 2010-12-08T08:57:53Z [Term] id: HP:0010917 name: Abnormality of tyrosine metabolism namespace: medical_genetics def: "An abnormality of a `tyrosine metabolic process` (GO:0006570)." [HPO:probinson] is_a: HP:0004338 ! Abnormality of aromatic amino acid family metabolism created_by: peter creation_date: 2010-12-08T09:13:53Z [Term] id: HP:0010918 name: Abnormality of cysteine metabolism namespace: medical_genetics def: "An abnormality of a `cysteine metabolic process` (GO:0006534)." [HPO:probinson] is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism created_by: peter creation_date: 2010-12-11T11:45:39Z [Term] id: HP:0010919 name: Abnormality of homocysteine metabolism namespace: medical_genetics def: "An abnormality of a `homocysteine metabolic process` (GO:0050667)." [HPO:probinson] is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism created_by: peter creation_date: 2010-12-11T11:48:52Z [Term] id: HP:0010920 name: Zonular cataract namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics def: "A type of cataract affecting the `Anterior pole of lens` (FMA:58897) immediately adjacent to ('beneath') the `Lens capsule` (FMA:58881)." [HPO:probinson] is_a: HP:0000523 ! Subcapsular cataract created_by: peter creation_date: 2010-12-12T12:51:55Z [Term] id: HP:0010924 name: Posterior cortical cataract namespace: medical_genetics def: "A `cataract` (HP:0000518) that affects the posterior part of the `cortex of the lens` (FMA:58970)." [HPO:probinson] is_a: HP:0100019 ! Cortical cataract created_by: peter creation_date: 2010-12-12T12:55:36Z [Term] id: HP:0010925 name: Nuclear punctate cataract namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics def: "An abnormality of `divalent inorganic cation homeostasis` (GO:0072507)." [HPO:probinson] is_a: HP:0010929 ! Abnormality of cation homeostasis created_by: peter creation_date: 2011-01-06T07:47:18Z [Term] id: HP:0010928 name: Abnormality of orotic acid metabolism namespace: medical_genetics def: "An abnormality of the metabolism of `orotic acid` (CHEBI:16742)." [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 created_by: peter creation_date: 2011-01-06T10:06:46Z [Term] id: HP:0010929 name: Abnormality of cation homeostasis namespace: medical_genetics def: "An abnormality of `cation homeostasis` (GO:0055080)." [HPO:probinson] is_a: HP:0003111 ! Abnormality of ion homeostasis created_by: peter creation_date: 2011-01-06T10:36:04Z [Term] id: HP:0010930 name: Abnormality of monovalent inorganic cation homeostasis namespace: medical_genetics def: "An abnormality of `monovalent inorganic cation homeostasis` (GO:0055067)." [HPO:probinson] is_a: HP:0010929 ! Abnormality of cation homeostasis created_by: peter creation_date: 2011-01-06T10:38:38Z [Term] id: HP:0010931 name: Abnormality of sodium homeostasis namespace: medical_genetics def: "An abnormal concentration of `sodium` (CHEBI:29101)." [HPO:probinson] is_a: HP:0010930 ! Abnormality of monovalent inorganic cation homeostasis created_by: peter creation_date: 2011-01-06T10:40:20Z [Term] id: HP:0010932 name: Abnormality of nucleobase metabolism namespace: medical_genetics def: "An abnormality of a `nucleobase metabolic process` (GO:0009112)." [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. is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2011-01-06T10:46:17Z [Term] id: HP:0010933 name: Abnormality of xanthine metabolism namespace: medical_genetics def: "An abnormality of a `xanthine metabolic process` (GO:0046110)." [HPO:probinson] is_a: HP:0004352 ! Abnormality of purine metabolism created_by: peter creation_date: 2011-01-10T07:53:26Z [Term] id: HP:0010934 name: Xanthinuria namespace: medical_genetics def: "An increased concentration of `xanthine` (CHEBI:15318) in the `urine` (FMA:12274)." [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. is_a: HP:0010933 ! Abnormality of xanthine metabolism created_by: peter creation_date: 2011-01-10T07:55:12Z [Term] id: HP:0010935 name: Abnormality of the upper urinary tract namespace: medical_genetics def: "An abnormality of the `upper urinary tract` (FMA:45658)." [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 created_by: peter creation_date: 2011-01-16T11:37:29Z [Term] id: HP:0010936 name: Abnormality of the lower urinary tract namespace: medical_genetics def: "An abnormality of the `lower urinary tract` (FMA:45659)." [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 created_by: peter creation_date: 2011-01-16T11:39:17Z [Term] id: HP:0010937 name: Abnormality of the nasal skeleton namespace: medical_genetics def: "An abnormality of the `nasal skeleton` (FMA:60116)." [HPO:probinson] is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2011-01-16T02:19:38Z [Term] id: HP:0010938 name: Abnormality of the external nose namespace: medical_genetics def: "An abnormality of the `external nose` (FMA:59515)." [HPO:probinson] is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2011-01-16T02:21:10Z [Term] id: HP:0010939 name: Abnormality of the nasal bone namespace: medical_genetics def: "An abnormality of the `nasal bone` (FMA:52745), comprising the `left nasal bone` (FMA:53648) and the `right nasal bone` (FMA:53647)." [HPO:probinson] is_a: HP:0010937 ! Abnormality of the nasal skeleton created_by: peter creation_date: 2011-01-16T02:28:45Z [Term] id: HP:0010940 name: Aplasia/Hypoplasia of the nasal bone namespace: medical_genetics def: "Absence or underdevelopment of the `nasal bone` (FMA:52745)." [HPO:probinson] is_a: HP:0010939 ! Abnormality of the nasal bone created_by: peter creation_date: 2011-01-16T02:31:16Z [Term] id: HP:0010941 name: Aplasia of the nasal bone namespace: medical_genetics def: "Absence of the `nasal bone` (FMA:52745)." [HPO:probinson] is_a: HP:0010940 ! Aplasia/Hypoplasia of the nasal bone created_by: peter creation_date: 2011-01-16T02:32:39Z [Term] id: HP:0010942 name: Echogenic intracardiac focus namespace: medical_genetics 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." [HPO:probinson, 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:0001713 ! Abnormality of the cardiac ventricle created_by: peter creation_date: 2011-01-16T02:52:26Z [Term] id: HP:0010943 name: Echogenic fetal bowel namespace: medical_genetics def: "A finding of increased echogenicity upon prenatal ultrasound examination of the bowel. The foci may be present in one or both ventricles." [HPO:probinson, 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. is_a: HP:0002242 ! Abnormality of the intestine created_by: peter creation_date: 2011-01-16T03:04:36Z [Term] id: HP:0010944 name: Abnormality of the renal pelvis namespace: medical_genetics def: "An abnormality of the `renal pelvis` (FMA:15575)." [HPO:probinson] is_a: HP:0000077 ! Abnormality of the kidney created_by: peter creation_date: 2011-01-16T03:33:55Z [Term] id: HP:0010945 name: Fetal pyelectasis namespace: medical_genetics def: "An enlargement of the `renal pelvis` (FMA:15575)." [HPO:probinson] comment: The renal pelvis is the part of the kidney that collects urine. Fetal pyelectasis is a prenatal ultrasound finding that is diagnosed with enlargment of the renal pelvis from 4 to 10 millimeters. Note that dilatation of the renal pelvis to more than 10 mm is refered to as sever pyelectasis or hydronephrosis. synonym: "Fetal renal pelvic dilatation" EXACT [] is_a: HP:0010946 ! Dilatation of the renal pelvis created_by: peter creation_date: 2011-01-16T03:36:31Z [Term] id: HP:0010946 name: Dilatation of the renal pelvis namespace: medical_genetics def: "The presence of `dilatation` (MPATH:66) of the `renal pelvis` (FMA:15575)." [HPO:probinson] is_a: HP:0010944 ! Abnormality of the renal pelvis created_by: peter creation_date: 2011-01-16T03:39:20Z [Term] id: HP:0010947 name: Abnormality of ductus venosus blood flow namespace: medical_genetics def: "An first-trimester prenatal ultrasound finding of abnormal blood flow in the ductus venosus." [HPO:probinson, pmid:21048453] comment: The typical abnormal finding in abnormal ductus venosus flow is a reversed a-wave. is_a: HP:0010948 ! Abnormality of the fetal circulation system created_by: peter creation_date: 2011-01-16T03:50:45Z [Term] id: HP:0010948 name: Abnormality of the fetal circulation system namespace: medical_genetics def: "An abnormality of the fetal circulation system." [HPO:probinson] 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 namespace: medical_genetics 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 circulation system created_by: peter creation_date: 2011-01-16T04:15:43Z [Term] id: HP:0010950 name: Abnormality of the fourth ventricle namespace: medical_genetics def: "An abnormality of the `fourth ventricle` (FMA:78469)." [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 created_by: peter creation_date: 2011-01-17T12:58:00Z [Term] id: HP:0010951 name: Abnormality of the third ventricle namespace: medical_genetics def: "An abnormality of the `third ventricle` (FMA:78454 )." [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 created_by: peter creation_date: 2011-01-17T01:00:31Z [Term] id: HP:0010952 name: Fetal ventriculomegaly namespace: medical_genetics def: "A kind of `ventriculomegaly` (HPO:HP:0002119) occurring in the fetal period and usually diagnosed by prenatal ultrasound." [HPO:probinson] 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 created_by: peter creation_date: 2011-01-17T01:36:57Z [Term] id: HP:0010953 name: Noncommunicating hydrocephalus namespace: medical_genetics def: "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." [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 created_by: peter creation_date: 2011-01-17T02:22:26Z [Term] id: HP:0010954 name: Hypoplastic right heart namespace: medical_genetics 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 created_by: peter creation_date: 2011-01-17T03:31:37Z [Term] id: HP:0010955 name: Dilatation of the bladder namespace: medical_genetics def: "The presence of a `dilated` (PATO:0001571) `urinary bladder` (FMA:15900)." [HPO:probinson] is_a: HP:0000014 ! Abnormality of the bladder created_by: peter creation_date: 2011-01-18T10:42:26Z [Term] id: HP:0010956 name: Fetal megacystis namespace: medical_genetics 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. synonym: "Megacystis" RELATED [] 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 namespace: medical_genetics 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 [] 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 namespace: medical_genetics def: "Bilateral failure of the `kidney` (FMA:7203) to develop during embryogenesis and development." [HPO:probinson] is_a: HP:0000104 ! Renal agenesis created_by: peter creation_date: 2011-01-18T11:42:58Z [Term] id: HP:0010959 name: Congenital cystic adenomatoid malformation of the lung namespace: medical_genetics def: "A hamartomatous lesion of the lung (i.e., a lesion characterized by normal lung tissues in a disorganized spatial arrangement)." [HPO:probinson, pmid:20610189] 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 [] is_a: HP:0002088 ! Abnormality of the lung created_by: peter creation_date: 2011-01-18T11:56:02Z [Term] id: HP:0010960 name: Bronchopulmonary sequestration namespace: medical_genetics 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. 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 namespace: medical_genetics 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 created_by: peter creation_date: 2011-01-18T12:34:14Z [Term] id: HP:0010962 name: Extralobar sequestration namespace: medical_genetics 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 created_by: peter creation_date: 2011-01-18T12:36:55Z [Term] id: HP:0010963 name: Absence of stomach bubble on fetal sonography namespace: medical_genetics 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:0002577 ! Abnormality of the stomach created_by: peter creation_date: 2011-01-18T12:45:41Z [Term] id: HP:0010964 name: Abnormality of long-chain fatty-acid metabolism namespace: medical_genetics def: "An abnormality of `long-chain fatty acid` (CHEBI:15904) 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 created_by: peter creation_date: 2011-01-27T08:05:00Z [Term] id: HP:0010965 name: Abnormality of phytanic acid metabolism namespace: medical_genetics def: "An abnormality of `phytanic acid` (CHEBI:16285) 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 created_by: peter creation_date: 2011-01-27T08:07:48Z [Term] id: HP:0010966 name: Abnormality of fatty-acid anion metabolism namespace: medical_genetics def: "An abnormality of `fatty acid anion` (CHEBI:28868) metabolism." [HPO:probinson] comment: A fatty acid anion is the conjugate base of a fatty acid. is_a: HP:0004359 ! Abnormality of fatty-acid metabolism created_by: peter creation_date: 2011-01-27T09:17:48Z [Term] id: HP:0010967 name: Abnormality of carnitine metabolism namespace: medical_genetics def: "An abnormality of `carnitine` (CHEBI:17126) metabolism." [HPO:gcarletti] comment: Carnitine is required for the transport of fatty acids from the cytosol into the mitochondria. is_a: HP:0010966 ! Abnormality of fatty-acid anion metabolism created_by: peter creation_date: 2011-01-27T09:19:42Z [Term] id: HP:0010968 name: Abnormality of liposaccharide metabolism namespace: medical_genetics def: "An abnormality of `liposaccharide` (CHEBI:35740) metabolism." [HPO:probinson] is_a: HP:0003119 ! Abnormality of lipid metabolism created_by: peter creation_date: 2011-01-27T09:22:56Z [Term] id: HP:0010969 name: Abnormality of glycolipid metabolism namespace: medical_genetics def: "An abnormality of `glycolipid` (CHEBI:33563) metabolism." [HPO:probinson] is_a: HP:0010968 ! Abnormality of liposaccharide metabolism created_by: peter creation_date: 2011-01-27T09:25:31Z [Term] id: HP:0010970 name: Blood group antigen abnormality namespace: medical_genetics 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 namespace: medical_genetics def: "Absence of the Lutheran antigen (a type I integral membrane glycoprotein) from the sruface 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 namespace: medical_genetics alt_id: HP:0005501 alt_id: HP:0005504 alt_id: HP:0005553 def: "A kind of `anemia` (HP:0001903) 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:C0002871 xref: UMLS:C0014819 xref: UMLS:C0221143 xref: UMLS:C0332452 xref: UMLS:C0392708 xref: UMLS:C1000483 is_a: HP:0001903 ! Anemia created_by: peter creation_date: 2011-02-06T02:24:54Z [Term] id: HP:0010973 name: Abnormality of erythroid lineage cell namespace: medical_genetics def: "An abnormality of a `erythroid lineage cell` (CL:0000764)." [HPO:probinson] is_a: HP:0001871 ! Abnormality of the hematopoietic system created_by: peter creation_date: 2011-02-06T04:15:51Z [Term] id: HP:0010974 name: Abnormality of myeloid leukocytes namespace: medical_genetics def: "An abnormality of `myeloid leukocytes` (CL:0000766)." [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 created_by: peter creation_date: 2011-02-06T09:24:46Z [Term] id: HP:0010975 name: Abnormality of B cell number namespace: medical_genetics def: "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." [HPO:probinson, MP:0002458] is_a: HP:0002846 ! Abnormality of B cells created_by: peter creation_date: 2011-02-06T09:38:18Z [Term] id: HP:0010976 name: Reduction in B cell number namespace: medical_genetics alt_id: HP:0002956 def: "An abnormal decrease from the normal count of `B cells` (CL:0000236)." [HPO:probinson] comment: Plasma B cells differentiate from B cells and secrete large amounts of antibodies. xref: UMLS:C0005953 xref: UMLS:C0032112 xref: UMLS:C0205251 xref: UMLS:C0237753 xref: UMLS:C0449788 xref: UMLS:C1299352 xref: UMLS:C1550472 is_a: HP:0010975 ! Abnormality of B cell number created_by: peter creation_date: 2011-02-06T09:44:11Z [Term] id: HP:0010977 name: Abnormality of phagocytes namespace: medical_genetics def: "An abnormality of `phagocytes` (CL:0000518)." [HPO:probinson] is_a: HP:0010974 ! Abnormality of myeloid leukocytes created_by: peter creation_date: 2011-02-06T10:31:46Z [Term] id: HP:0010978 name: Abnormality of immune system physiology namespace: medical_genetics def: "A functional abnormality of the `immune system` (FMA:9825)." [HPO:probinson, MP:0001790] is_a: HP:0002715 ! Abnormality of the immune system created_by: peter creation_date: 2011-02-07T04:28:55Z [Term] id: HP:0010979 name: Abnormality of the level of lipoprotein cholesterol namespace: medical_genetics def: "An abnormal increase or decrease in the level of `lipoprotein cholesterol` (CHEBI:50404) in the `blood` (FMA:9670)." [HPO:probinson] comment: Cholesterol esters and free cholesterol which are contained in or bound to lipoproteins. is_a: HP:0003107 ! Abnormality of cholesterol metabolism created_by: peter creation_date: 2011-02-07T09:47:29Z [Term] id: HP:0010980 name: Hyperlipoproteinemia namespace: medical_genetics def: "An abnormal increase in the level of `lipoprotein cholesterol` (CHEBI:50404) in the `blood` (FMA:9670)." [HPO:probinson] is_a: HP:0010979 ! Abnormality of the level of lipoprotein cholesterol created_by: peter creation_date: 2011-02-07T10:56:30Z [Term] id: HP:0010981 name: Hypolipoproteinemia namespace: medical_genetics def: "An abnormal decrease in the level of `lipoprotein cholesterol` (CHEBI:50404) in the `blood` (FMA:9670)." [HPO:proteinemia] is_a: HP:0010979 ! Abnormality of the level of lipoprotein cholesterol created_by: peter creation_date: 2011-02-07T11:01:50Z [Term] id: HP:0010982 name: Polygenic inheritance namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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:0010986 name: Abnormality of immune system organ namespace: medical_genetics is_a: HP:0002715 ! Abnormality of the immune system created_by: peter creation_date: 2011-02-08T12:33:28Z [Term] id: HP:0010987 name: Abnormality of cellular immune system namespace: medical_genetics def: "An abnormality of the morphology or counts of the cells that make up the `immune system` (FMA:9825)." [HPO:probinson] is_a: HP:0002715 ! Abnormality of the immune system created_by: peter creation_date: 2011-02-08T12:49:47Z [Term] id: HP:0010988 name: Abnormality of the extrinsic pathway namespace: medical_genetics def: "An abnormality of the `extrinsic pathway` (GO:0007598) (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 created_by: peter creation_date: 2011-02-08T01:59:22Z [Term] id: HP:0010989 name: Abnormality of the intrinsic pathway namespace: medical_genetics def: "An abnormality of the `intrinsic pathway` (GO:0007597) (also known as the contact activation pathway) of the coagulation cascade." [HPO:probinson] is_a: HP:0003256 ! Abnormality of the coagulation cascade created_by: peter creation_date: 2011-02-08T04:26:55Z [Term] id: HP:0010990 name: Abnormality of the common coagulation pathway namespace: medical_genetics def: "An abnormality of `blood coagulation, common pathway` (GO:0072377)." [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 created_by: peter creation_date: 2011-02-08T04:31:53Z [Term] id: HP:0010991 name: Abnormality of the abdominal musculature namespace: medical_genetics def: "An abnormality of the `abdominal musculature` (FMA:86917)." [HPO:probinson] is_a: HP:0004298 ! Abnormality of the abdominal wall created_by: peter creation_date: 2011-02-09T08:05:11Z [Term] id: HP:0010992 name: Stress urinary incontinence namespace: medical_genetics def: "In voluntary urine leakage synchronous with exertion, or actions such as sneezing, or coughing." [HPO:probinson, pmid:12559262] 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 namespace: medical_genetics def: "An abnormality of the `cerebral subcortex` (FMA:242188)." [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 created_by: peter creation_date: 2011-02-09T10:32:54Z [Term] id: HP:0010994 name: Abnormality of the striatum namespace: medical_genetics 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 namespace: medical_genetics def: "An abnormality of `dicarboxylic acid` (CHEBI:35692) metabolism." [HPO:probinson] comment: A dicarboxylic acid is an oxoacid containing two carboxy groups. is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism created_by: peter creation_date: 2011-02-10T02:01:02Z [Term] id: HP:0010996 name: Abnormality of monocarboxylic acid metabolism namespace: medical_genetics def: "An abnormality of `monocarboxylic acid` (CHEBI:25384) metabolism." [HPO:gcarletti] is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism created_by: peter creation_date: 2011-02-10T02:20:42Z [Term] id: HP:0010997 name: Chromosomal breakage induced by ionizing radiation namespace: medical_genetics 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:0003220 ! Abnormality of chromosome stability created_by: peter creation_date: 2011-02-10T06:10:33Z [Term] id: HP:0010998 name: Increased susceptibility to spontaneous sister chromatid exchange namespace: medical_genetics 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 name: Aplasia of the optic tract namespace: medical_genetics is_a: HP:0011000 ! Aplasia/Hypoplasia of the optic tract created_by: gdoelken creation_date: 2011-02-13T11:28:03Z [Term] id: HP:0011000 name: Aplasia/Hypoplasia of the optic tract namespace: medical_genetics is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: gdoelken creation_date: 2011-02-13T11:28:43Z [Term] id: HP:0011001 name: Increased bone mineral density namespace: medical_genetics 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:curators] comment: This term may be merged with Increased bone density in the future or made obsolete. synonym: "Generalized osteosclerosis" EXACT [] synonym: "Increased bone density" EXACT [] synonym: "Increased bone density, mild-moderate" EXACT [] synonym: "Increased bone mineral density" EXACT [] synonym: "Osteosclerosis" EXACT [] synonym: "Osteosclerosis of bones" EXACT [] xref: UMLS:C0005938 xref: UMLS:C0029053 xref: UMLS:C0029464 xref: UMLS:C0205081 xref: UMLS:C0205217 xref: UMLS:C0205246 xref: UMLS:C0262950 xref: UMLS:C0391978 xref: UMLS:C0442805 xref: UMLS:C0547040 xref: UMLS:C1266908 xref: UMLS:C1266909 xref: UMLS:C1865344 xref: UMLS:C1881878 is_a: HP:0004348 ! Abnormality of bone mineral density created_by: gdoelken creation_date: 2011-02-13T11:57:32Z [Term] id: HP:0011002 name: Osteopetrosis namespace: medical_genetics is_a: HP:0011001 ! Increased bone mineral density created_by: gdoelken creation_date: 2011-02-13T11:58:36Z [Term] id: HP:0011003 name: Severe Myopia namespace: medical_genetics alt_id: HP:0000569 synonym: "High myopia" EXACT [] synonym: "Severe myopia" EXACT [] synonym: "Severe myopia (> -6.00 diopters)" EXACT [] xref: UMLS:C0271183 xref: UMLS:C0439484 xref: UMLS:C0439485 xref: UMLS:C0439486 is_a: HP:0000545 ! Myopia created_by: gdoelken creation_date: 2011-02-13T12:56:48Z [Term] id: HP:0011004 name: Abnormality of the systemic arterial tree namespace: medical_genetics def: "An abnormality of the `systemic arterial tree` (FMA:49894), which consists of the aorta and other systemic arteries." [HPO:probinson] is_a: HP:0002597 ! Abnormality of the vasculature created_by: peter creation_date: 2011-02-16T08:46:49Z [Term] id: HP:0011005 name: Mixed cirrhosis namespace: medical_genetics def: "A type of `cirrhosis` (HP:0001394) 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 created_by: peter creation_date: 2011-02-17T09:01:14Z [Term] id: HP:0011006 name: Abnormality of the musculature of the neck namespace: medical_genetics def: "An abnormality of the `neck musculature` (FMA:71290)." [HPO:probinson] is_a: HP:0000464 ! Abnormality of the neck created_by: peter creation_date: 2011-02-19T11:15:01Z [Term] id: HP:0011007 name: Age of onset namespace: medical_genetics def: "The age group in which disease manifestations appear." [HPO:probinson] is_a: HP:0003674 ! Onset created_by: peter creation_date: 2011-02-20T10:20:57Z [Term] id: HP:0011008 name: Speed of onset namespace: medical_genetics def: "The speed at which disease manifestations first develop." [HPO:probinson] is_a: HP:0003674 ! Onset created_by: peter creation_date: 2011-02-20T10:22:32Z [Term] id: HP:0011009 name: Acute namespace: medical_genetics def: "Sudden appearance of disease manifestations over a short period of time." [HPO:probinson] synonym: "Acute onset" EXACT [] is_a: HP:0011008 ! Speed of onset created_by: peter creation_date: 2011-02-20T10:23:18Z [Term] id: HP:0011010 name: Chronic namespace: medical_genetics 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 ! Speed of onset created_by: peter creation_date: 2011-02-20T10:25:55Z [Term] id: HP:0011011 name: Subacute namespace: medical_genetics def: "Somewhat rapid onset and change of disease manifestations." [HPO:probinson] comment: Subacute is between acute and chronic. is_a: HP:0011008 ! Speed of onset created_by: peter creation_date: 2011-02-20T10:27:54Z [Term] id: HP:0011012 name: Abnormality of polysaccharide metabolism namespace: medical_genetics def: "An abnormality of the metabolism of `polysaccharide` (CHEBI:18154)." [HPO:probinson] is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis created_by: peter creation_date: 2011-02-21T09:46:11Z [Term] id: HP:0011013 name: Abnormality of carbohydrate metabolism/homeostasis namespace: medical_genetics def: "An abnormality of the metabolism/homeostasis of a `carbohydrate` (CHEBI:23008)." [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 created_by: peter creation_date: 2011-02-21T09:47:27Z [Term] id: HP:0011014 name: Abnormal glucose homeostasis namespace: medical_genetics def: "Abnormality of `glucose homeostasis` (GO:0042593)." [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 created_by: peter creation_date: 2011-02-21T10:37:21Z [Term] id: HP:0011015 name: Abnormality of blood glucose concentration namespace: medical_genetics def: "An abnormality of the concentration of `glucose` (CHEBI:17234) in the `blood` (FMA:9670)." [HPO:probinson] is_a: HP:0011014 ! Abnormal glucose homeostasis created_by: peter creation_date: 2011-02-21T10:41:13Z [Term] id: HP:0011016 name: Abnormality of urine glucose concentration namespace: medical_genetics def: "An abnormality of the concentration of `glucose` (CHEBI:17234) in the `urine` (FMA:12274)." [HPO:gcarletti] is_a: HP:0011014 ! Abnormal glucose homeostasis created_by: peter creation_date: 2011-02-21T11:09:32Z [Term] id: HP:0011017 name: Abnormality of cell physiology namespace: medical_genetics def: "An abnormality in a `cellular process` (GO:0009987)." [HPO:probinson] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2011-02-22T07:05:50Z [Term] id: HP:0011018 name: Abnormality of the cell cycle namespace: medical_genetics def: "An abnormality of the `cell cycle` (GO:0007049)." [HPO:probinson] is_a: HP:0011017 ! Abnormality of cell physiology created_by: peter creation_date: 2011-02-22T07:09:31Z [Term] id: HP:0011019 name: Abnormality of chromosome condensation namespace: medical_genetics def: "An abnormality of `chromosome condensation` (GO:0030261)." [HPO:probinson] is_a: HP:0011017 ! Abnormality of cell physiology created_by: peter creation_date: 2011-02-22T07:19:30Z [Term] id: HP:0011020 name: Abnormality of mucopolysaccharide metabolism namespace: medical_genetics is_a: HP:0004371 ! Abnormality of glycosaminoglycan metabolism created_by: peter creation_date: 2011-02-23T07:58:02Z [Term] id: HP:0011021 name: Abnormality of circulating enzyme level namespace: medical_genetics 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 namespace: medical_genetics def: "An abnormality of `unsaturated fatty acid` (CHEBI:27208) metabolism." [HPO:probinson] is_a: HP:0004359 ! Abnormality of fatty-acid metabolism created_by: peter creation_date: 2011-02-28T09:04:58Z [Term] id: HP:0011023 name: Abnormality of prostaglandin metabolism namespace: medical_genetics def: "An abnormality of `prostaglandin` (CHEBI:26333) metabolism." [HPO:probinson] is_a: HP:0011022 ! Abnormality of unsaturated fatty acid metabolism created_by: peter creation_date: 2011-02-28T09:19:20Z [Term] id: HP:0011024 name: Abnormality of the gastrointestinal tract namespace: medical_genetics def: "An abnormality of the `gastrointestinal tract` (FMA:71132)." [HPO:probinson] is_a: HP:0002012 ! Abnormality of the abdominal organs created_by: peter creation_date: 2011-03-01T07:52:06Z [Term] id: HP:0011025 name: Abnormality of cardiovascular system physiology namespace: medical_genetics def: "`Abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `cardiovascular system` (FMA:7161)." [HPO:probinson] is_a: HP:0001626 ! Abnormality of the cardiovascular system created_by: peter creation_date: 2011-03-03T10:23:19Z [Term] id: HP:0011026 name: Aplasia/Hypoplasia of the vagina namespace: medical_genetics def: "`Aplasia` (MPATH:58) or developmental hypoplasia of the `vagina` (FMA:19949)." [HPO:probinson] is_a: HP:0000142 ! Abnormality of the vagina created_by: peter creation_date: 2011-03-02T06:17:46Z [Term] id: HP:0011027 name: Abnormality of the fallopian tube namespace: medical_genetics def: "An abnormality of the `fallopian tube` (FMA:18245)." [HPO:probinson] is_a: HP:0000008 ! Abnormality of female internal genitalia created_by: peter creation_date: 2011-03-02T06:36:01Z [Term] id: HP:0011028 name: Abnormality of blood circulation namespace: medical_genetics def: "An abnormality of `blood circulation` (GO:0008015)." [HPO:probinson] is_a: HP:0011025 ! Abnormality of cardiovascular system physiology created_by: peter creation_date: 2011-03-03T10:25:21Z [Term] id: HP:0011029 name: Internal hemorrhage namespace: medical_genetics def: "The presence of `hemorrhage` (MPATH:119) within the `body` (FMA:20394)." [HPO:probinson] is_a: HP:0011028 ! Abnormality of blood circulation created_by: peter creation_date: 2011-03-03T10:26:26Z [Term] id: HP:0011030 name: Abnormality of transition element cation homeostasis namespace: medical_genetics def: "An abnormality of the homeostasis (concentration) of `transition element cation` (CHEBI:33515)." [HPO:probinson] is_a: HP:0010929 ! Abnormality of cation homeostasis created_by: peter creation_date: 2011-03-04T07:59:31Z [Term] id: HP:0011031 name: Abnormality of iron homeostasis namespace: medical_genetics def: "An abnormality of the homeostasis (concentration) of `iron cation` (CHEBI:24875)." [HPO:probinson] is_a: HP:0011030 ! Abnormality of transition element cation homeostasis created_by: peter creation_date: 2011-03-04T08:01:07Z [Term] id: HP:0011032 name: Abnormality of fluid regulation namespace: medical_genetics def: "An abnormality of the `regulation of body fluids` (GO:0050878)." [HPO:probinson] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2011-03-05T09:09:27Z [Term] id: HP:0011033 name: Impairment of fructose metabolism namespace: medical_genetics def: "An impairment of a `fructose metabolic process` (GO:0006000)." [HPO:probinson] is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis created_by: peter creation_date: 2011-03-05T10:06:29Z [Term] id: HP:0011034 name: Amyloidosis namespace: medical_genetics def: "The presence of `amyloid deposition` (MPATH:34) in one or more tissues. Amyloidosis may be defined as the exrtracellular 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. is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2011-03-06T10:56:39Z [Term] id: HP:0011035 name: Abnormality of the renal cortex namespace: medical_genetics def: "An abnormality of the `cortex of the kidney` (FMA:15581)." [HPO:probinson] is_a: HP:0000077 ! Abnormality of the kidney created_by: peter creation_date: 2011-03-06T11:31:39Z [Term] id: HP:0011036 name: Abnormality of renal excretion namespace: medical_genetics def: "An altered ability of the kidneys to void urine and/or specific substances." [HPO:probinson] xref: MP:0005555 is_a: HP:0000082 ! Abnormality of renal physiology created_by: peter creation_date: 2011-03-06T12:28:55Z [Term] id: HP:0011037 name: Decreased urine output namespace: medical_genetics def: "A `decreased rate` (PATO:0000911) of `micturition` (GO:0060073)." [HPO:probinson] comment: A reduction in the overall amount of urine output. is_a: HP:0011036 ! Abnormality of renal excretion created_by: peter creation_date: 2011-03-06T12:33:12Z [Term] id: HP:0011038 name: Abnormality of renal resorption namespace: medical_genetics def: "An abnormality of `renal absorption` (GO:0070293)." [HPO:probinson] is_a: HP:0000082 ! Abnormality of renal physiology created_by: peter creation_date: 2011-03-06T12:38:04Z [Term] id: HP:0011039 name: Abnormality of the helix namespace: medical_genetics alt_id: HP:0000380 def: "An abnormality of the `helix` (FMA:60992)." [HPO:probinson] synonym: "Abnormal helices" EXACT [] synonym: "Abnormality of the helix" EXACT [] synonym: "Helix abnormal" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0018882 xref: UMLS:C0205161 xref: UMLS:C0229304 xref: UMLS:C1704258 xref: UMLS:C1704821 xref: UMLS:C1705682 xref: UMLS:C1856660 xref: UMLS:C2347472 is_a: HP:0000377 ! Abnormality of the pinna created_by: peter creation_date: 2011-03-06T04:41:34Z [Term] id: HP:0011040 name: Abnormality of the intrahepatic bile duct namespace: medical_genetics def: "An abnormality of the `intrahepatic bile duct` (FMA:15766)." [HPO:probinson] is_a: HP:0001080 ! Biliary tract abnormality created_by: peter creation_date: 2011-03-07T07:54:11Z [Term] id: HP:0011041 name: Aplasia/Hypoplasia of the cervical spine namespace: medical_genetics def: "`Aplasia` (MPATH:58) or developmental hypoplasia of the `cervical vertebral column` (FMA:24138)." [HPO:probinson] is_a: HP:0003319 ! Abnormality of the cervical spine created_by: peter creation_date: 2011-03-09T08:29:34Z [Term] id: HP:0011042 name: Abnormality of potassium homeostasis namespace: medical_genetics def: "An abnormal concentration of `potassium` (CHEBI:29103)." [HPO:probinson] is_a: HP:0010930 ! Abnormality of monovalent inorganic cation homeostasis created_by: peter creation_date: 2011-03-09T11:00:32Z [Term] id: HP:0011043 name: Abnormality of circulating adrenocorticotropin level namespace: medical_genetics def: "An `abnormal` (PATO:0000460) `concentration` (PATO:0000033) of `corticotropin` (CHEBI:3892) in the `blood` (FMA:9670)." [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 created_by: peter creation_date: 2011-03-10T07:46:59Z [Term] id: HP:0011044 name: Abnormal number of permanent teeth namespace: medical_genetics def: "The presence of an `altered number of`(PATO:0002083) of `teeth` (FMA:12516)." [HPO:ibailleulforestier] is_a: HP:0006483 ! Abnormal number of teeth created_by: peter creation_date: 2011-03-10T10:43:37Z [Term] id: HP:0011045 name: Agenesis of permanent upper central incisor namespace: medical_genetics def: "`Agenesis` (MPATH:57) of `upper secondary incisor` (FMA:55712)." [HPO:ibailleulforestier] comment: This feature is to be distinguished from single central upper incisor, which is median. is_a: HP:0006293 ! Agenesis of upper central incisor created_by: peter creation_date: 2011-03-10T11:20:25Z [Term] id: HP:0011046 name: Agenesis of primary upper central incisor namespace: medical_genetics def: "`Agenesis` (MPATH:57) of `upper central primary incisor` (FMA:84216)." [HPO:ibailleulforestier] comment: This feature is to be distinguished from single central upper incisor, which is median. is_a: HP:0006293 ! Agenesis of upper central incisor created_by: peter creation_date: 2011-03-10T11:21:41Z [Term] id: HP:0011047 name: Agenesis of primary lower central incisor namespace: medical_genetics def: "`Agenesis` (MPATH:57) of `lower primary incisor` (FMA:84215)." [HPO:ibailleulforestier] is_a: HP:0006355 ! Agenesis of lower central incisor created_by: peter creation_date: 2011-03-10T11:14:55Z [Term] id: HP:0011048 name: Agenesis of permanent lower central incisor namespace: medical_genetics def: "`Agenesis` (MPATH:57) of `lower secondary incisor` (FMA:55713)." [HPO:ibailleulforestier] is_a: HP:0006355 ! Agenesis of lower central incisor created_by: peter creation_date: 2011-03-10T11:16:08Z [Term] id: HP:0011049 name: Agenesis of primary maxillary lateral incisor namespace: medical_genetics def: "`Agenesis` (MPATH:57) of one or more maxillary lateral incisor, comprising the `maxillary lateral primary incisor` (FMA84217)." [HPO:ibailleulforestier] is_a: HP:0000690 ! Agenesis of maxillary lateral incisor created_by: peter creation_date: 2011-03-10T11:31:10Z [Term] id: HP:0011050 name: Agenesis of permanent maxillary lateral incisor namespace: medical_genetics def: "`Agenesis` (MPATH:57) of one or more `upper lateral secondary incisor` (FMA:55724)." [HPO:ibailleulforestier] is_a: HP:0000690 ! Agenesis of maxillary lateral incisor created_by: peter creation_date: 2011-03-10T11:32:17Z [Term] id: HP:0011051 name: Agenesis of premolar namespace: medical_genetics def: "`Agenesis` (MPATH:57) of `premolar tooth` (FMA:55637)." [HPO:ibailleulforestier] comment: Note that premolar teeth occur only in the permanent dentition. is_a: HP:0001592 ! Selective tooth agenesis created_by: peter creation_date: 2011-03-10T11:36:44Z [Term] id: HP:0011052 name: Agenesis of maxillary premolar namespace: medical_genetics def: "`Agenesis` (MPATH:57) of `maxillary premolar` (FMA:55716)." [HPO:ibailleulforestier] comment: Note that premolar teeth occur only in the permanent dentition. is_a: HP:0011051 ! Agenesis of premolar created_by: peter creation_date: 2011-03-10T11:39:06Z [Term] id: HP:0011053 name: Agenesis of mandibular premolar namespace: medical_genetics def: "`Agenesis` (MPATH:57) of `mandibular premolar` (FMA:55717)." [HPO:ibailleulforestier] is_a: HP:0011051 ! Agenesis of premolar created_by: peter creation_date: 2011-03-10T11:40:37Z [Term] id: HP:0011054 name: Agenesis of molar namespace: medical_genetics def: "`Agenesis` (MPATH:57) of `molar tooth` (FMA:55638)." [HPO:ibailleulforestier] is_a: HP:0001592 ! Selective tooth agenesis created_by: peter creation_date: 2011-03-10T11:41:46Z [Term] id: HP:0011055 name: Agenesis of permanent molar namespace: medical_genetics def: "`Agenesis` (MPATH:57) of `secondary molar tooth` (FMA:84207)." [HPO:ibailleulforestier] is_a: HP:0011054 ! Agenesis of molar created_by: peter creation_date: 2011-03-10T11:44:27Z [Term] id: HP:0011056 name: Agenesis of first permanent molar tooth namespace: medical_genetics def: "`Agenesis` (MPATH:57) of either `maxillary first permanent molar` (FMA:55811) or `mandibular first permanent molar` (FMA:55814) or both." [HPO:ibailleulforestier] is_a: HP:0011055 ! Agenesis of permanent molar created_by: peter creation_date: 2011-03-10T11:45:27Z [Term] id: HP:0011057 name: Agenesis of second permanent molar namespace: medical_genetics def: "`Agenesis` (MPATH:57) of either `mandibular second permanent molar` (FMA:55815) or `maxillary second permanent molar` (FMA:55812)." [HPO:ibailleulforestier] is_a: HP:0011055 ! Agenesis of permanent molar created_by: peter creation_date: 2011-03-10T11:47:58Z [Term] id: HP:0011058 name: Generalized periodontitis namespace: medical_genetics def: "A generalized form of `periodontitis` (HP:0000165)." [HPO:ibailleulforestier] is_a: HP:0000165 ! Periodontitis created_by: peter creation_date: 2011-03-10T12:23:22Z [Term] id: HP:0011059 name: Localized periodontitis namespace: medical_genetics def: "A `localized` (PATO:0000627) form of `periodontitis` (HP:0000165)." [HPO:ibailleulforestier] is_a: HP:0000165 ! Periodontitis created_by: peter creation_date: 2011-03-10T12:26:35Z [Term] id: HP:0011060 name: Dentin dysplasia namespace: medical_genetics def: "`Developmental dysplasia` of `dentin` (FMA:55628)." [HPO:ibailleulforestier] is_a: HP:0010299 ! Abnormality of dentin created_by: peter creation_date: 2011-03-10T12:33:46Z [Term] id: HP:0011061 name: Abnormality of dental structure namespace: medical_genetics 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 namespace: medical_genetics def: "`Misaligned` (PATO:0001654) `incisor` (FMA:12823)." [HPO:ibailleulforestier] is_a: HP:0000676 ! Abnormality of the incisors is_a: HP:0000692 ! Misalignment of teeth created_by: peter creation_date: 2011-03-10T01:57:43Z [Term] id: HP:0011063 name: Abnormality of incisor morphology namespace: medical_genetics def: "An abnormality of `morphology` (PATO:0000051) of the `incisor tooth` (FMA:12823)." [HPO:ibailleulforestier] is_a: HP:0000676 ! Abnormality of the incisors is_a: HP:0006482 ! Abnormality of dental morphology created_by: peter creation_date: 2011-03-10T02:06:54Z [Term] id: HP:0011064 name: Abnormality of number of incisors namespace: medical_genetics def: "The presence of an `altered number of`(PATO:0002083) of the `incisor teeth` (FMA:12823).." [HPO:ibailleulforestier] is_a: HP:0000676 ! Abnormality of the incisors is_a: HP:0006483 ! Abnormal number of teeth created_by: peter creation_date: 2011-03-10T02:09:16Z [Term] id: HP:0011065 name: Conical incisor namespace: medical_genetics def: "An abnormal morphology of the incisors having a `conical` (PATO:0002021) shape." [HPO:ibailleulforestier] comment: Conical incisors are incisors that are round in cross-sectional views of the crown. synonym: "Conoid incisor" EXACT [] is_a: HP:0011063 ! Abnormality of incisor morphology created_by: peter creation_date: 2011-03-10T02:14:34Z [Term] id: HP:0011066 name: Pointed incisor namespace: medical_genetics def: "An abnormal morphology of the incisors having a `pointed` (PATO:0002258) shape." [HPO:ibailleulforestier] comment: Pointed incisors are incisors that taper to a point at the tip of the tooth. is_a: HP:0011063 ! Abnormality of incisor morphology created_by: peter creation_date: 2011-03-10T02:16:59Z [Term] id: HP:0011067 name: Mesiodens namespace: medical_genetics def: "The presence of a supernumerary tooth in the midline between the maxillary central incisors." [HPO:ibailleulforestier, pmid:18262485] 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 namespace: medical_genetics is_a: HP:0100612 ! Odontogenic neoplasm created_by: peter creation_date: 2011-03-10T02:40:52Z [Term] id: HP:0011069 name: Increased number of teeth namespace: medical_genetics def: "The presence of a `increased number` (PATO:0000470) of `teeth` (FMA:12516)." [HPO:ibailleulforestier] is_a: HP:0006483 ! Abnormal number of teeth created_by: peter creation_date: 2011-03-10T02:52:19Z [Term] id: HP:0011070 name: Abnormality of molar morphology namespace: medical_genetics def: "An abnormality of `morphology` (PATO:0000051) of `molar tooth` (FMA:55638)." [HPO:ibailleulforestier] is_a: HP:0006482 ! Abnormality of dental morphology created_by: peter creation_date: 2011-03-10T03:45:51Z [Term] id: HP:0011071 name: Abnormality of permanent molar morphology namespace: medical_genetics def: "An abnormality of `morphology` (PATO:0000051) of `permanent molar` (FMA:84207)." [HPO:ibailleulforestier] is_a: HP:0011070 ! Abnormality of molar morphology created_by: peter creation_date: 2011-03-10T03:48:43Z [Term] id: HP:0011072 name: Rootless teeth namespace: medical_genetics 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 namespace: medical_genetics def: "A developmental defect of tooth color." [HPO:ibailleulforestier] 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 namespace: medical_genetics def: "A `localized` (PATO:0000627) form of developmental hypoplasia of the `dental enamel` (FMA:55629)." [HPO:ibailleulforestier] is_a: HP:0006297 ! Hypoplasia of dental enamel created_by: peter creation_date: 2011-03-10T05:13:09Z [Term] id: HP:0011075 name: Green teeth namespace: medical_genetics 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:0100000 name: Early onset of puberty namespace: medical_genetics def: "An early onset of puberty, in this case early does not refer to precocious." [HPO:curators] xref: UMLS:C0034011 xref: UMLS:C1833334 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 namespace: medical_genetics 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 is_a: HP:0002664 ! Neoplasia created_by: doelkens creation_date: 2010-05-11T04:10:29Z [Term] id: HP:0100002 name: Pleural mesothelioma namespace: medical_genetics def: "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." [HPO:sdoelken] xref: UMLS:C1377913 is_a: HP:0100001 ! Malignant mesothelioma is_a: HP:0100527 ! Neoplasia of the pleura created_by: doelkens creation_date: 2010-05-11T04:16:23Z [Term] id: HP:0100003 name: Peritoneal mesothelioma namespace: medical_genetics def: "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." [HPO:sdoelken] xref: UMLS:C0346109 xref: UMLS:C1377610 is_a: HP:0002585 ! Abnormality of the peritoneum is_a: HP:0100001 ! Malignant mesothelioma is_a: HP:0100016 ! Abnormality of the mesentery created_by: doelkens creation_date: 2010-05-11T04:16:23Z [Term] id: HP:0100004 name: Pericardial mesothelioma namespace: medical_genetics def: "A `Malignant mesothelioma` (HP:0100001) originating from cells of the pericardium (the thin layer of mesothelium lining the heart)." [HPO:sdoelken] xref: UMLS:C1335381 is_a: HP:0001697 ! Abnormality of the pericardium is_a: HP:0100001 ! Malignant mesothelioma created_by: doelkens creation_date: 2010-05-11T04:16:23Z [Term] id: HP:0100005 name: Testicular mesothelioma namespace: medical_genetics def: "A `Malignant mesothelioma` (HP:0100001) of the `testis` (FMA:7210)." [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. xref: UMLS:C0025500 xref: UMLS:C0205070 xref: UMLS:C0405581 is_a: HP:0010788 ! Testicular neoplasm is_a: HP:0100001 ! Malignant mesothelioma created_by: doelkens creation_date: 2010-05-11T04:16:23Z [Term] id: HP:0100006 name: Neoplasm of the central nervous system namespace: medical_genetics def: "A `neoplasm` (MPATH:218) of the `central nervous system` (FMA:55675)." [HPO:probinson] synonym: "Neoplasia of the central nervous system" RELATED [] synonym: "Tumors of the central nervous system" EXACT [HPO:sdoelken] xref: UMLS:C0027651 xref: UMLS:C0927232 xref: UMLS:C1269563 is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0004375 ! Neoplasm of the nervous system created_by: doelkens creation_date: 2010-05-14T09:11:53Z [Term] id: HP:0100007 name: Neoplasia of the peripheral nervous system namespace: medical_genetics synonym: "Tumors of the peripheral nervous system" EXACT [HPO:sdoelken] xref: UMLS:C0027651 xref: UMLS:C0206417 xref: UMLS:C1305921 is_a: HP:0004375 ! Neoplasm of the nervous system created_by: doelkens creation_date: 2010-05-14T09:11:53Z [Term] id: HP:0100008 name: Abnormality of the Schwann Cells namespace: medical_genetics def: "An abnormality of the schwann cells, which are glia of the peripheral nervous system (PNS)." [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-Barré syndrome (GBS), schwannomatosis and chronic inflammatory demyelinating polyneuropathy (CIDP) are all neuropathies involving Schwann cells. xref: UMLS:C0000768 xref: UMLS:C0036387 xref: UMLS:C1704258 is_a: HP:0000759 ! Abnormality of the peripheral nervous system created_by: doelkens creation_date: 2010-05-14T09:13:07Z [Term] id: HP:0100009 name: Intracranial meningioma namespace: medical_genetics xref: UMLS:C0349604 is_a: HP:0002858 ! Meningioma created_by: doelkens creation_date: 2010-05-14T09:29:27Z [Term] id: HP:0100010 name: Spinal meningioma namespace: medical_genetics xref: UMLS:C0347515 is_a: HP:0002858 ! Meningioma created_by: doelkens creation_date: 2010-05-14T09:29:27Z [Term] id: HP:0100011 name: Scleral schwannoma namespace: medical_genetics xref: UMLS:C0027809 xref: UMLS:C0036410 is_a: HP:0100008 ! Abnormality of the Schwann Cells is_a: HP:0100012 ! Neoplasia of the eye created_by: doelkens creation_date: 2010-05-14T09:41:55Z [Term] id: HP:0100012 name: Neoplasia of the eye namespace: medical_genetics xref: UMLS:C0015392 xref: UMLS:C0027651 xref: UMLS:C1280202 is_a: HP:0002664 ! Neoplasia created_by: doelkens creation_date: 2010-05-14T09:43:34Z [Term] id: HP:0100013 name: Neoplasm of the breast namespace: medical_genetics alt_id: HP:0010623 def: "A `neoplasm` (MPATH:218) of the `breast` (FMA:9601)." [HPO:probinson] synonym: "Neoplasia of the breast" RELATED [] synonym: "Tumours of the breast" RELATED [] xref: UMLS:C0006141 xref: UMLS:C0027651 xref: UMLS:C1268990 is_a: HP:0000769 ! Abnormality of the breast is_a: HP:0002664 ! Neoplasia created_by: doelkens creation_date: 2010-05-14T09:45:09Z [Term] id: HP:0100014 name: Epiretinal membrane namespace: medical_genetics 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: "Macular pucker" EXACT [] synonym: "Premacular fibrosis" EXACT [] xref: UMLS:C0016059 xref: UMLS:C0154853 xref: UMLS:C0339543 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 namespace: medical_genetics def: "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." [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:C0013443 xref: UMLS:C0205437 xref: UMLS:C0229308 xref: UMLS:C0431480 xref: UMLS:C0521421 xref: UMLS:C1140621 xref: UMLS:C1281123 xref: UMLS:C1420365 xref: UMLS:C1524062 xref: UMLS:C1862689 xref: UMLS:C2019825 is_a: HP:0011039 ! Abnormality of the helix created_by: doelkens creation_date: 2010-05-25T10:30:14Z [Term] id: HP:0100016 name: Abnormality of the mesentery namespace: medical_genetics 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] xref: UMLS:C0000768 xref: UMLS:C0025474 xref: UMLS:C1704258 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 namespace: medical_genetics def: "A cataract that affects the `capsule of the lens` (FMA:58881)." [HPO:probinson] xref: UMLS:C0339352 is_a: HP:0000518 ! Cataract created_by: doelkens creation_date: 2010-05-27T06:01:54Z [Term] id: HP:0100018 name: Nuclear cataract namespace: medical_genetics def: "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." [HPO:sdoelken] xref: UMLS:C0392557 is_a: HP:0010920 ! Zonular cataract created_by: doelkens creation_date: 2010-05-28T11:34:45Z [Term] id: HP:0100019 name: Cortical cataract namespace: medical_genetics def: "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." [HPO:sdoelken] xref: UMLS:C0271160 is_a: HP:0010920 ! Zonular cataract created_by: doelkens creation_date: 2010-05-28T11:35:33Z [Term] id: HP:0100020 name: Posterior capsular cataract namespace: medical_genetics def: "A cataract which is found in the back outer layer of the lens. This type often develops more rapidly." [HPO:sdoelken] xref: UMLS:C0205095 xref: UMLS:C0339352 is_a: HP:0100017 ! Capsular cataract created_by: doelkens creation_date: 2010-05-28T11:36:49Z [Term] id: HP:0100021 name: Cerebral paralysis namespace: medical_genetics 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 palsy" EXACT [] xref: UMLS:C0007789 xref: UMLS:C0392549 is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0003011 ! Abnormality of musculature 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 namespace: medical_genetics 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 [] xref: UMLS:C0000768 xref: UMLS:C0026649 xref: UMLS:C0392702 xref: UMLS:C0427086 xref: UMLS:C1704258 is_a: HP:0000707 ! Abnormality of the nervous system created_by: doelkens creation_date: 2010-05-28T11:48:50Z [Term] id: HP:0100023 name: Recurrent hand flapping namespace: medical_genetics xref: UMLS:C0034897 xref: UMLS:C0440949 is_a: HP:0100022 ! Abnormality of movement created_by: doelkens creation_date: 2010-05-28T12:10:09Z [Term] id: HP:0100024 name: Conspicuously happy disposition namespace: medical_genetics 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 [] xref: UMLS:C0018592 xref: UMLS:C0184758 xref: UMLS:C0743223 xref: UMLS:C1547011 xref: UMLS:C1705555 xref: UMLS:C1879746 is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality created_by: doelkens creation_date: 2010-05-28T05:32:35Z [Term] id: HP:0100025 name: Overfriendliness namespace: medical_genetics 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:0000708 ! Behavioural/Psychiatric Abnormality created_by: doelkens creation_date: 2010-05-28T05:42:06Z [Term] id: HP:0100026 name: Arteriovenous malformations namespace: medical_genetics xref: UMLS:C0003857 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 namespace: medical_genetics def: "A `recurrent` (PATO:0000427) form of `pancreatitis` (HP:0001733)." [HPO:probinson] synonym: "Recurring pancreatitis" EXACT [] xref: UMLS:C1840398 is_a: HP:0001733 ! Pancreatitis created_by: doelkens creation_date: 2010-06-01T01:45:23Z [Term] id: HP:0100028 name: Ectopic thyroid namespace: medical_genetics def: "`Mislocalised` (PATO:0000628) `thyroid gland` (FMA:9603)." [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] xref: UMLS:C0040132 xref: UMLS:C0266283 xref: UMLS:C0279175 xref: UMLS:C0443127 xref: UMLS:C2228489 is_a: HP:0000820 ! Abnormality of the thyroid gland created_by: doelkens creation_date: 2010-06-10T10:16:37Z [Term] id: HP:0100029 name: Lingual thyroid namespace: medical_genetics def: "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." [HPO:sdoelken] comment: A lingual thyroid is the most common form of an aberrant thyroid gland. xref: UMLS:C0266284 is_a: HP:0100028 ! Ectopic thyroid created_by: doelkens creation_date: 2010-06-10T10:20:31Z [Term] id: HP:0100030 name: Accessory ectopic thyroid tissue namespace: medical_genetics 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 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 namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `thyroid gland` (FMA:9603)." [HPO:probinson] synonym: "Neoplasia of the thyroid gland" RELATED [] xref: UMLS:C0027651 xref: UMLS:C0040132 xref: UMLS:C1278878 is_a: HP:0000820 ! Abnormality of the thyroid gland is_a: HP:0100568 ! Endocrine neoplasia created_by: doelkens creation_date: 2010-06-10T10:30:24Z [Term] id: HP:0100033 name: Tic disorders namespace: medical_genetics 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. xref: UMLS:C0040188 is_a: HP:0000733 ! Stereotyped, repetitive behaviour is_a: HP:0100022 ! Abnormality of movement created_by: doelkens creation_date: 2010-06-10T12:10:29Z [Term] id: HP:0100034 name: Motor tics namespace: medical_genetics def: "Movement-based tics affecting discrete muscle groups." [HPO:sdoelken] xref: UMLS:C0751900 is_a: HP:0100033 ! Tic disorders created_by: doelkens creation_date: 2010-06-10T12:13:57Z [Term] id: HP:0100035 name: Phonic tics namespace: medical_genetics 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 [] xref: UMLS:C0040188 xref: UMLS:C0278076 xref: UMLS:C0439824 xref: UMLS:C0751901 xref: UMLS:C2169806 is_a: HP:0100033 ! Tic disorders created_by: doelkens creation_date: 2010-06-10T12:13:57Z [Term] id: HP:0100036 name: Pseudo-fractures namespace: medical_genetics def: "A band of bone material of decreased density forming alongside the surface of the cortical bone with thickening of the periosteum. The formation of callouses 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:0002659 ! Increased susceptibility to fractures is_a: HP:0003103 ! Abnormality of cortical bone created_by: doelkens creation_date: 2010-06-14T05:25:53Z [Term] id: HP:0100037 name: Abnormality of the scalp hair namespace: medical_genetics is_a: HP:0001595 ! Abnormality of the hair is_a: HP:0001965 ! Abnormality of the scalp created_by: doelkens creation_date: 2010-06-22T05:29:31Z [Term] id: HP:0100038 name: Slow-growing scalp hair namespace: medical_genetics 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 namespace: medical_genetics def: "An `Abnormality of cortical bone` (HP:0003103) leading to an abnormal thickness of the cortex of affected bones." [HPO:sdoelken] is_a: HP:0003103 ! Abnormality of cortical bone created_by: doelkens creation_date: 2010-06-24T09:39:01Z [Term] id: HP:0100040 name: Broad 2nd toe namespace: medical_genetics 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:0010319 ! Abnormality of the 2nd toe created_by: doelkens creation_date: 2010-06-24T09:52:57Z [Term] id: HP:0100041 name: Broad 3rd toe namespace: medical_genetics def: "A broad appearance of the third toe." [HPO:sdoelken] is_a: HP:0010320 ! Abnormality of the 3rd toe created_by: doelkens creation_date: 2010-06-24T09:54:55Z [Term] id: HP:0100042 name: Broad 4th toe namespace: medical_genetics def: "A broad appearance of the fourth toe." [HPO:sdoelken] 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 namespace: medical_genetics def: "A broad appearance of the fifth toe." [HPO:sdoelken] 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0010171 ! Stippling 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:0100054 name: Triangular epiphyses of the 2nd toe namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0010171 ! Stippling 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:0100065 name: Triangular epiphyses of the 3rd toe namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0010171 ! Stippling 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:0100076 name: Triangular epiphyses of the 4th toe namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0010171 ! Stippling 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:0100087 name: Triangular epiphyses of the 5th toe namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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) namespace: medical_genetics 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 namespace: medical_genetics def: "An abnormal union between bones or parts of bones of the upper limbs." [HPO:sdoelken] is_a: HP:0009810 ! Abnormality of the joints of the upper limbs 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 namespace: medical_genetics is_a: HP:0001367 ! Abnormality of the joints created_by: doelkens creation_date: 2010-06-24T06:04:02Z [Term] id: HP:0100241 name: Ectopic respiratory mucosa namespace: medical_genetics 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:0000951 ! Abnormality of the skin is_a: HP:0002086 ! Abnormality of the respiratory system is_a: HP:0002973 ! Abnormality of the forearm created_by: doelkens creation_date: 2010-06-29T11:18:12Z [Term] id: HP:0100242 name: Sarcoma namespace: medical_genetics def: "The presence of a `sarcoma` (MPATH:551)." [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). is_a: HP:0002664 ! Neoplasia created_by: doelkens creation_date: 2010-07-08T10:43:57Z [Term] id: HP:0100243 name: Leiomyosarcoma namespace: medical_genetics 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] is_a: HP:0100242 ! Sarcoma created_by: doelkens creation_date: 2010-07-08T10:49:35Z [Term] id: HP:0100244 name: Fibrosarcoma namespace: medical_genetics 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] is_a: HP:0100242 ! Sarcoma created_by: doelkens creation_date: 2010-07-08T10:55:40Z [Term] id: HP:0100245 name: Desmoid tumors namespace: medical_genetics 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 ! Gastrointestinal tract neoplasia 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 namespace: medical_genetics 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] is_a: HP:0010622 ! Neoplasia of the skeletal system created_by: doelkens creation_date: 2010-07-08T11:38:30Z [Term] id: HP:0100247 name: Recurrent singultus namespace: medical_genetics 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: "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 namespace: medical_genetics def: "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." [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 muscle contractions created_by: doelkens creation_date: 2010-07-09T12:21:41Z [Term] id: HP:0100249 name: Calcification of muscles namespace: medical_genetics is_a: HP:0010766 ! Ectopic calcifications created_by: doelkens creation_date: 2010-07-09T12:32:25Z [Term] id: HP:0100250 name: Meningeal calcification namespace: medical_genetics def: "`Calcium deposition` (MPATH:36) affecting the `Meninges` (FMA:231572)." [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 created_by: doelkens creation_date: 2010-07-14T03:41:34Z [Term] id: HP:0100251 name: Lipomas of the central neryous system namespace: medical_genetics is_a: HP:0001012 ! Lipomas is_a: HP:0100006 ! Neoplasm of the central nervous system created_by: doelkens creation_date: 2010-07-14T03:55:50Z [Term] id: HP:0100252 name: Diaphyseal dysplasia namespace: medical_genetics is_a: HP:0000940 ! Abnormality of the diaphyses 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 namespace: medical_genetics 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 ! Abnormality of the diaphyses created_by: doelkens creation_date: 2010-07-14T05:09:21Z [Term] id: HP:0100254 name: Stenosis of the medullary cavity of the long bones namespace: medical_genetics 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 namespace: medical_genetics alt_id: HP:0000948 alt_id: HP:0005002 alt_id: HP:0005636 def: "The presence of dysplastic regions in metaphyseal bones." [HPO:sdoelken] synonym: "Metaphyseal dysplasia" EXACT [] synonym: "mild metaphyseal dysplasia" EXACT [] xref: UMLS:C0265294 xref: UMLS:C1856204 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 namespace: medical_genetics 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 [] is_a: HP:0002011 ! Abnormality of the central nervous system created_by: doelkens creation_date: 2010-07-15T02:43:44Z [Term] id: HP:0100257 name: Ectrodactyly namespace: medical_genetics 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. is_a: HP:0002813 ! Abnormality of the extremities created_by: doelkens creation_date: 2010-07-15T03:56:58Z [Term] id: HP:0100258 name: Preaxial polydactyly namespace: medical_genetics 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] is_a: HP:0010442 ! Polydactyly created_by: doelkens creation_date: 2010-07-20T11:00:32Z [Term] id: HP:0100259 name: Postaxial polydactyly namespace: medical_genetics 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 is_a: HP:0010442 ! Polydactyly created_by: doelkens creation_date: 2010-07-20T11:00:32Z [Term] id: HP:0100260 name: Central polydactyly namespace: medical_genetics is_a: HP:0010442 ! Polydactyly created_by: doelkens creation_date: 2010-07-20T11:00:32Z [Term] id: HP:0100261 name: Abnormality of the tendons namespace: medical_genetics def: "An abnormality of the `tendons` (FMA:9721), 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:0000924 ! Abnormality of the musculoskeletal system is_a: HP:0003549 ! Abnormality of connective tissue created_by: doelkens creation_date: 2010-07-20T01:20:19Z [Term] id: HP:0100262 name: Synostosis involving digits namespace: medical_genetics is_a: HP:0100240 ! Synostosis of joints created_by: doelkens creation_date: 2010-07-20T02:58:46Z [Term] id: HP:0100263 name: Distal symphalangism namespace: medical_genetics is_a: HP:0100262 ! Synostosis involving digits created_by: doelkens creation_date: 2010-07-20T03:00:19Z [Term] id: HP:0100264 name: Proximal symphalangism namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 [] xref: UMLS:C0007285 xref: UMLS:C0039316 xref: UMLS:C0332466 xref: UMLS:C1293131 xref: UMLS:C1322271 xref: UMLS:C1406822 is_a: HP:0100240 ! Synostosis of joints created_by: doelkens creation_date: 2010-07-20T03:02:14Z [Term] id: HP:0100267 name: Lip pits namespace: medical_genetics is_a: HP:0000159 ! Lip abnormality is_a: HP:0100276 ! Skin pits created_by: doelkens creation_date: 2010-07-20T04:06:32Z [Term] id: HP:0100268 name: Upper lip pit namespace: medical_genetics 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 pits created_by: doelkens creation_date: 2010-07-20T04:06:52Z [Term] id: HP:0100269 name: Paramedian lip pits namespace: medical_genetics def: "Depression located paramedia on the vermilion of the lower 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 pits created_by: doelkens creation_date: 2010-07-20T04:13:41Z [Term] id: HP:0100270 name: Abnormality of dorsoventral patterning of the limbs namespace: medical_genetics 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 feet created_by: doelkens creation_date: 2010-07-22T05:02:27Z [Term] id: HP:0100271 name: Hyponasal speech namespace: medical_genetics 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:0001611 ! Nasal speech created_by: doelkens creation_date: 2010-07-27T09:57:48Z [Term] id: HP:0100272 name: Branchial sinus namespace: medical_genetics 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: Neoplasia of the colon namespace: medical_genetics is_a: HP:0007378 ! Gastrointestinal tract neoplasia created_by: doelkens creation_date: 2010-07-28T05:37:31Z [Term] id: HP:0100274 name: Gustatory lacrimation namespace: medical_genetics 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 is_a: HP:0001333 ! Abnormality of the sensory nervous system created_by: doelkens creation_date: 2010-07-29T11:59:06Z [Term] id: HP:0100275 name: Diffuse cerebellar atrophy namespace: medical_genetics alt_id: HP:0006928 def: "Diffuse unlocalised atrophy affecting the cerebellum." [HPO:sdoelken] synonym: "Diffuse cerebellar atrophy" EXACT [] xref: UMLS:C0205219 xref: UMLS:C0740279 is_a: HP:0001272 ! Cerebellar atrophy is_a: HP:0002283 ! Diffuse brain atrophy created_by: doelkens creation_date: 2010-08-02T01:22:19Z [Term] id: HP:0100276 name: Skin pits namespace: medical_genetics is_a: HP:0000951 ! Abnormality of the skin created_by: doelkens creation_date: 2010-08-05T10:51:32Z [Term] id: HP:0100277 name: Periauricular skin pits namespace: medical_genetics 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 pits created_by: doelkens creation_date: 2010-08-05T10:54:32Z [Term] id: HP:0100278 name: Periauricular skin tag namespace: medical_genetics def: "A rudimentary tag of ear tissue often containing a core of cartilage located in the periauricular region." [HPO:sdoelken] is_a: HP:0000383 ! Abnormality of periauricular region created_by: doelkens creation_date: 2010-08-05T11:03:58Z [Term] id: HP:0100279 name: Ulcerative colitis namespace: medical_genetics 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 [] is_a: HP:0002960 ! Autoimmunity is_a: HP:0100281 ! Chronic colitis created_by: doelkens creation_date: 2010-08-10T09:25:44Z [Term] id: HP:0100280 name: Crohn's disease namespace: medical_genetics 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:0002960 ! Autoimmunity is_a: HP:0100281 ! Chronic colitis created_by: doelkens creation_date: 2010-08-10T09:26:05Z [Term] id: HP:0100281 name: Chronic colitis namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0003457 ! EMG abnormalities created_by: doelkens creation_date: 2010-08-10T12:59:19Z [Term] id: HP:0100284 name: EMG: myotonic discharges namespace: medical_genetics is_a: HP:0003457 ! EMG abnormalities created_by: doelkens creation_date: 2010-08-10T01:02:13Z [Term] id: HP:0100285 name: EMG: impaired neuromuscular transmission namespace: medical_genetics is_a: HP:0003457 ! EMG abnormalities created_by: doelkens creation_date: 2010-08-10T01:02:59Z [Term] id: HP:0100286 name: EMG: absent muscle activity upon active contraction namespace: medical_genetics is_a: HP:0003457 ! EMG abnormalities created_by: doelkens creation_date: 2010-08-10T01:03:35Z [Term] id: HP:0100287 name: EMG: slow motor conduction namespace: medical_genetics is_a: HP:0003457 ! EMG abnormalities created_by: doelkens creation_date: 2010-08-10T01:11:48Z [Term] id: HP:0100288 name: EMG: myokymic discharges namespace: medical_genetics is_a: HP:0002411 ! Myokymia is_a: HP:0003457 ! EMG abnormalities created_by: doelkens creation_date: 2010-08-10T01:12:27Z [Term] id: HP:0100289 name: Abnormality of pattern reversal visual evoked potentials namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system created_by: doelkens creation_date: 2010-08-10T01:46:51Z [Term] id: HP:0100293 name: Muscle fiber hypertrophy namespace: medical_genetics 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:0100294 name: Muscle fiber hypotrophy namespace: medical_genetics is_a: HP:0004303 ! Abnormality of muscle fibers created_by: doelkens creation_date: 2010-08-10T01:57:53Z [Term] id: HP:0100295 name: Muscle fiber atrophy namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics synonym: "Muscle fiber desmin-reactive inclusion bodies" EXACT [] 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0001321 ! Cerebellar hypoplasia created_by: doelkens creation_date: 2010-08-10T02:51:21Z [Term] id: HP:0100308 name: Cerebral cortical hemiatrophy namespace: medical_genetics is_a: HP:0002120 ! Cerebral cortical atrophy created_by: doelkens creation_date: 2010-08-10T02:52:37Z [Term] id: HP:0100309 name: Subdural hemorrhage namespace: medical_genetics def: "`Hemorrhage` (MPATH:119) occurring between the `dura mater` (FMA:9592) and the `arachnoid mater` (FMA:9591)." [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 [] synonym: "Subdural hemorrhage" EXACT [] is_a: HP:0002170 ! Intracranial hemorrhage created_by: doelkens creation_date: 2010-08-10T03:01:08Z [Term] id: HP:0100310 name: Epidural hemorrhage namespace: medical_genetics def: "`Hemorrhage` (MPATH:119) occurring between the `dura mater` (FMA:9592) and the `skull` (FMA:46565)." [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 created_by: doelkens creation_date: 2010-08-10T03:05:35Z [Term] id: HP:0100311 name: Cerebral ventricular adhesions namespace: medical_genetics 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 namespace: medical_genetics def: "The presence of a `germ cell tumor` (MPATH:310) of the `cerebrum` (FMA:62000)." [HPO:probinson] is_a: HP:0100006 ! Neoplasm of the central nervous system is_a: HP:0100620 ! Germinoma created_by: doelkens creation_date: 2010-08-10T03:17:16Z [Term] id: HP:0100313 name: Cerebral granuloma namespace: medical_genetics is_a: HP:0002060 ! Abnormality of the cerebrum created_by: doelkens creation_date: 2010-08-10T03:19:05Z [Term] id: HP:0100314 name: Cerebral inclusion bodies namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0100314 ! Cerebral inclusion bodies created_by: doelkens creation_date: 2010-08-10T03:32:14Z [Term] id: HP:0100316 name: Hirano bodies namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics def: "Cerebral eosinophile, discrete, intracytoplasmatic inclusions of unkown 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0001272 ! Cerebellar atrophy created_by: doelkens creation_date: 2010-08-10T03:56:48Z [Term] id: HP:0100322 name: Aplasia of the pyramidal tract namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics def: "A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies." [HPO:sdoelken] comment: A chronic autoimmune disease characterized by fibrosis (or hardening), vascular alterations, and autoantibodies. is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0002960 ! Autoimmunity created_by: doelkens creation_date: 2010-08-10T04:14:42Z [Term] id: HP:0100325 name: Metacarpophalangeal Synostosis namespace: medical_genetics def: "Fusion of proximal phalanges of the fingers with the corresponding metacarpals." [HPO:sdoelken] is_a: HP:0009700 ! Synostosis involving bones of the fingers created_by: doelkens creation_date: 2010-09-14T05:41:34Z [Term] id: HP:0100326 name: Immunologic hypersensitivity namespace: medical_genetics 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 namespace: medical_genetics def: "A Hypersensitivity in form of an adverse immune reaction against cow milk protein." [HPO:sdoelken] is_a: HP:0100326 ! Immunologic hypersensitivity created_by: doelkens creation_date: 2010-09-16T06:03:58Z [Term] id: HP:0100328 name: Carpometacarpal synostosis namespace: medical_genetics is_a: HP:0009701 ! Synostosis involving the metacarpal bones is_a: HP:0009702 ! Synostosis involving the carpal bones created_by: doelkens creation_date: 2010-10-08T03:52:00Z [Term] id: HP:0100329 name: Tarsometatarsal synostosis namespace: medical_genetics is_a: HP:0001440 ! Synostosis involving metatarsal bones is_a: HP:0008368 ! Synostosis involving tarsal bones created_by: doelkens creation_date: 2010-10-08T03:53:06Z [Term] id: HP:0100330 name: Synostosis of tarsal bones namespace: medical_genetics is_a: HP:0008368 ! Synostosis involving tarsal bones created_by: doelkens creation_date: 2010-10-08T04:07:01Z [Term] id: HP:0100331 name: Unilateral cleft lip/palate namespace: medical_genetics is_a: HP:0100332 ! Non-midline cleft lip/palate created_by: doelkens creation_date: 2010-10-13T04:07:55Z [Term] id: HP:0100332 name: Non-midline cleft lip/palate namespace: medical_genetics is_a: HP:0000202 ! Cleft lip/palate created_by: doelkens creation_date: 2010-10-13T04:08:38Z [Term] id: HP:0100333 name: Unilateral cleft lip namespace: medical_genetics is_a: HP:0100331 ! Unilateral cleft lip/palate 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 namespace: medical_genetics is_a: HP:0100331 ! Unilateral cleft lip/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 namespace: medical_genetics is_a: HP:0000204 ! Cleft lip is_a: HP:0100332 ! Non-midline cleft lip/palate created_by: doelkens creation_date: 2010-10-13T04:12:24Z [Term] id: HP:0100336 name: Bilateral cleft lip namespace: medical_genetics is_a: HP:0002744 ! Bilateral cleft lip/palate 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 namespace: medical_genetics is_a: HP:0002744 ! Bilateral cleft lip/palate 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 namespace: medical_genetics is_a: HP:0000175 ! Cleft palate is_a: HP:0100332 ! Non-midline cleft lip/palate created_by: doelkens creation_date: 2010-10-13T04:16:40Z [Term] id: HP:0100339 name: Abnormality of the os naviculare pedis namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0010338 ! Deviation/Displacement 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 namespace: medical_genetics is_a: HP:0010338 ! Deviation/Displacement 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 namespace: medical_genetics is_a: HP:0010332 ! Deviation/Displacement 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 namespace: medical_genetics is_a: HP:0010332 ! Deviation/Displacement 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 namespace: medical_genetics is_a: HP:0010326 ! Deviation/Displacement 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 namespace: medical_genetics is_a: HP:0010326 ! Deviation/Displacement 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 namespace: medical_genetics is_a: HP:0010344 ! Deviation/Displacement 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 namespace: medical_genetics is_a: HP:0010344 ! Deviation/Displacement of the 5th toe created_by: doelkens creation_date: 2010-11-11T03:44:27Z [Term] id: HP:0100348 name: Contractures of the proximal interphalangeal joint of the 2nd toe namespace: medical_genetics is_a: HP:0010327 ! Joint contractures of the 2nd toe [Term] id: HP:0100349 name: Contractures of the proximal interphalangeal joint of the 3rd toe namespace: medical_genetics is_a: HP:0010333 ! Joint contractures of the 3rd toe [Term] id: HP:0100350 name: Contractures of the proximal interphalangeal joint of the 4th toe namespace: medical_genetics is_a: HP:0010339 ! Joint contractures of the 4th toe [Term] id: HP:0100351 name: Contractures of the proximal interphalangeal joint of the 5th toe namespace: medical_genetics is_a: HP:0010345 ! Joint contractures of the 5th toe [Term] id: HP:0100352 name: Contractures of the distal interphalangeal joint of the 2nd toe namespace: medical_genetics is_a: HP:0010327 ! Joint contractures of the 2nd toe [Term] id: HP:0100353 name: Contractures of the distal interphalangeal joint of the 3rd toe namespace: medical_genetics is_a: HP:0010333 ! Joint contractures of the 3rd toe [Term] id: HP:0100354 name: Contractures of the distal interphalangeal joint of the 4th toe namespace: medical_genetics is_a: HP:0010339 ! Joint contractures of the 4th toe [Term] id: HP:0100355 name: Contractures of the distal interphalangeal joint of the 5th toe namespace: medical_genetics is_a: HP:0010345 ! Joint contractures of the 5th toe [Term] id: HP:0100356 name: Contractures of the metatarsophalangeal joint of the 2nd toe namespace: medical_genetics is_a: HP:0010327 ! Joint contractures of the 2nd toe [Term] id: HP:0100357 name: Contractures of the metatarsophalangeal joint of the 3rd toe namespace: medical_genetics is_a: HP:0010333 ! Joint contractures of the 3rd toe [Term] id: HP:0100358 name: Contractures of the metatarsophalangeal joint of the 4th toe namespace: medical_genetics is_a: HP:0010339 ! Joint contractures of the 4th toe [Term] id: HP:0100359 name: Contractures of the metatarsophalangeal joint of the 5th toe namespace: medical_genetics is_a: HP:0010345 ! Joint contractures of the 5th toe [Term] id: HP:0100360 name: Contractures of the joints of the upper limbs namespace: medical_genetics is_a: HP:0003121 ! Limb contractures created_by: doelkens creation_date: 2010-11-11T04:18:29Z [Term] id: HP:0100362 name: Aplasia of the phalanges of the 3rd toe namespace: medical_genetics 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 fo the phalanges of the toes [Term] id: HP:0100363 name: Aplasia of the phalanges of the 4th toe namespace: medical_genetics 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 fo the phalanges of the toes [Term] id: HP:0100364 name: Aplasia of the phalanges of the 5th toe namespace: medical_genetics 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 fo the phalanges of the toes [Term] id: HP:0100366 name: Hypoplastic/small phalanges of the 3rd toe namespace: medical_genetics 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 fo the phalanges of the toes [Term] id: HP:0100367 name: Hypoplastic/small phalanges of the 4th toe namespace: medical_genetics 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 fo the phalanges of the toes [Term] id: HP:0100368 name: Hypoplastic/small phalanges of the 5th toe namespace: medical_genetics 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 fo the phalanges of the toes [Term] id: HP:0100369 name: Aplasia/Hypoplasia of the distal phalanx of the 3rd toe namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0010203 ! Aplasia/Hypoplasia of the proximal 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: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 namespace: medical_genetics is_a: HP:0010203 ! Aplasia/Hypoplasia of the proximal 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: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 namespace: medical_genetics is_a: HP:0010203 ! Aplasia/Hypoplasia of the proximal 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:0010394 ! Abnormality of the proximal phalanx of the 5th toe [Term] id: HP:0100378 name: Aplasia of the distal phalanx of the 3rd toe namespace: medical_genetics 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 [Term] id: HP:0100379 name: Aplasia of the distal phalanx of the 4th toe namespace: medical_genetics 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 namespace: medical_genetics 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: Aplasia of the middle phalanx of the 3rd toe namespace: medical_genetics 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 [Term] id: HP:0100382 name: Aplasia of the middle phalanx of the 4th toe namespace: medical_genetics 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 namespace: medical_genetics 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: Aplasia of the proximal phalanx of the 3rd toe namespace: medical_genetics 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 [Term] id: HP:0100385 name: Aplasia of the proximal phalanx of the 4th toe namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0010745 ! Aplasia fo 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 namespace: medical_genetics is_a: HP:0010745 ! Aplasia fo the phalanges of the toes created_by: doelkens creation_date: 2010-11-11T04:55:30Z [Term] id: HP:0100389 name: Hypoplastic/small distal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0100366 ! Hypoplastic/small phalanges of the 3rd toe is_a: HP:0100369 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd toe [Term] id: HP:0100390 name: Hypoplastic/small distal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0100367 ! Hypoplastic/small phalanges of the 4th toe is_a: HP:0100370 ! Aplasia/Hypoplasia of the distal phalanx of the 4th toe [Term] id: HP:0100391 name: Hypoplastic/small distal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0100368 ! Hypoplastic/small phalanges of the 5th toe is_a: HP:0100371 ! Aplasia/Hypoplasia of the distal phalanx of the 5th toe [Term] id: HP:0100392 name: Hypoplastic/small middle phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0100366 ! Hypoplastic/small phalanges of the 3rd toe is_a: HP:0100372 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd toe [Term] id: HP:0100393 name: Hypoplastic/small middle phalanx of the 4th toe namespace: medical_genetics is_a: HP:0100367 ! Hypoplastic/small phalanges of the 4th toe is_a: HP:0100373 ! Aplasia/Hypoplasia of the middle phalanx of the 4th toe [Term] id: HP:0100394 name: Hypoplastic/small middle phalanx of the 5th toe namespace: medical_genetics is_a: HP:0100368 ! Hypoplastic/small phalanges of the 5th toe is_a: HP:0100374 ! Aplasia/Hypoplasia of the middle phalanx of the 5th toe [Term] id: HP:0100395 name: Hypoplastic/small proximal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0100366 ! Hypoplastic/small phalanges of the 3rd toe is_a: HP:0100375 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd toe [Term] id: HP:0100396 name: Hypoplastic/small proximal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0100367 ! Hypoplastic/small phalanges of the 4th toe is_a: HP:0100376 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th toe [Term] id: HP:0100397 name: Hypoplastic/small proximal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0100368 ! Hypoplastic/small phalanges of the 5th toe is_a: HP:0100377 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th toe [Term] id: HP:0100398 name: Partial/complete duplication of the distal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010334 ! Polydactyly affecting the 3rd toe is_a: HP:0010367 ! Partial/complete duplication of the phalanges of the 3rd toe is_a: HP:0010368 ! Abnormality of the distal phalanx of the 3rd toe [Term] id: HP:0100399 name: Partial/complete duplication of the distal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010340 ! Polydactyly affecting the 4th toe is_a: HP:0010379 ! Partial/complete duplication of the phalanges of the 4th toe is_a: HP:0010380 ! Abnormality of the distal phalanx of the 4th toe [Term] id: HP:0100400 name: Partial/complete duplication of the distal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0001830 ! Postaxial polydactyly (feet) is_a: HP:0010391 ! Partial/complete duplication of the phalanges of the 5th toe is_a: HP:0010392 ! Abnormality of the distal phalanx of the 5th toe [Term] id: HP:0100401 name: Partial/complete duplication of the middle phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010334 ! Polydactyly affecting the 3rd toe is_a: HP:0010367 ! Partial/complete duplication of the phalanges of the 3rd toe is_a: HP:0010369 ! Abnormality of the middle phalanx of the 3rd toe [Term] id: HP:0100402 name: Partial/complete duplication of the middle phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010340 ! Polydactyly affecting the 4th toe is_a: HP:0010379 ! Partial/complete duplication of the phalanges of the 4th toe is_a: HP:0010381 ! Abnormality of the middle phalanx of the 4th toe [Term] id: HP:0100403 name: Partial/complete duplication of the middle phalanx of the 5th toe namespace: medical_genetics is_a: HP:0001830 ! Postaxial polydactyly (feet) is_a: HP:0010391 ! Partial/complete 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: Partial/complete duplication of the proximal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010334 ! Polydactyly affecting the 3rd toe is_a: HP:0010367 ! Partial/complete duplication of the phalanges of the 3rd toe is_a: HP:0010370 ! Abnormality of the proximal phalanx of the 3rd toe [Term] id: HP:0100405 name: Partial/complete duplication of the proximal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010340 ! Polydactyly affecting the 4th toe is_a: HP:0010379 ! Partial/complete duplication of the phalanges of the 4th toe is_a: HP:0010382 ! Abnormality of the proximal phalanx of the 4th toe [Term] id: HP:0100406 name: Partial/complete duplication of the proximal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0001830 ! Postaxial polydactyly (feet) is_a: HP:0010391 ! Partial/complete duplication of the phalanges of the 5th toe is_a: HP:0010394 ! Abnormality of the proximal phalanx of the 5th toe [Term] id: HP:0100407 name: Complete duplication of the distal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0100398 ! Partial/complete duplication of the distal phalanx of the 3rd toe [Term] id: HP:0100408 name: Complete duplication of the distal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0100399 ! Partial/complete duplication of the distal phalanx of the 4th toe [Term] id: HP:0100409 name: Complete duplication of the distal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0100400 ! Partial/complete duplication of the distal phalanx of the 5th toe [Term] id: HP:0100410 name: Complete duplication of the middle phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0100401 ! Partial/complete duplication of the middle phalanx of the 3rd toe [Term] id: HP:0100411 name: Complete duplication of the middle phalanx of the 4th toe namespace: medical_genetics is_a: HP:0100402 ! Partial/complete duplication of the middle phalanx of the 4th toe [Term] id: HP:0100412 name: Complete duplication of the middle phalanx of the 5th toe namespace: medical_genetics is_a: HP:0100403 ! Partial/complete duplication of the middle phalanx of the 5th toe [Term] id: HP:0100413 name: Complete duplication of the proximal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0100404 ! Partial/complete duplication of the proximal phalanx of the 3rd toe [Term] id: HP:0100414 name: Complete duplication of the proximal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0100405 ! Partial/complete duplication of the proximal phalanx of the 4th toe [Term] id: HP:0100415 name: Complete duplication of the proximal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0100406 ! Partial/complete duplication of the proximal phalanx of the 5th toe [Term] id: HP:0100416 name: Partial duplication of the distal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0100398 ! Partial/complete duplication of the distal phalanx of the 3rd toe [Term] id: HP:0100417 name: Partial duplication of the distal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0100399 ! Partial/complete duplication of the distal phalanx of the 4th toe [Term] id: HP:0100418 name: Partial duplication of the distal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0100400 ! Partial/complete duplication of the distal phalanx of the 5th toe [Term] id: HP:0100419 name: Partial duplication of the middle phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0100401 ! Partial/complete duplication of the middle phalanx of the 3rd toe [Term] id: HP:0100420 name: Partial duplication of the middle phalanx of the 4th toe namespace: medical_genetics is_a: HP:0100402 ! Partial/complete duplication of the middle phalanx of the 4th toe [Term] id: HP:0100421 name: Partial duplication of the middle phalanx of the 5th toe namespace: medical_genetics is_a: HP:0100403 ! Partial/complete duplication of the middle phalanx of the 5th toe [Term] id: HP:0100422 name: Partial duplication of the proximal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0100404 ! Partial/complete duplication of the proximal phalanx of the 3rd toe [Term] id: HP:0100423 name: Partial duplication of the proximal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0100405 ! Partial/complete duplication of the proximal phalanx of the 4th toe [Term] id: HP:0100424 name: Partial duplication of the proximal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0100406 ! Partial/complete duplication of the proximal phalanx of the 5th toe [Term] id: HP:0100425 name: Broad middle phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010360 ! Broad phalanges of the 3rd toe [Term] id: HP:0100426 name: Broad middle phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010372 ! Broad phalanges of the 4th toe [Term] id: HP:0100427 name: Broad middle phalanx of the 5th toe namespace: medical_genetics is_a: HP:0010384 ! Broad phalanges of the 5th toe [Term] id: HP:0100428 name: Broad proximal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010360 ! Broad phalanges of the 3rd toe [Term] id: HP:0100429 name: Broad proximal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010372 ! Broad phalanges of the 4th toe [Term] id: HP:0100430 name: Broad proximal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0010384 ! Broad phalanges of the 5th toe [Term] id: HP:0100431 name: Broad distal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010360 ! Broad phalanges of the 3rd toe [Term] id: HP:0100432 name: Broad distal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010372 ! Broad phalanges of the 4th toe [Term] id: HP:0100433 name: Broad distal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0010384 ! Broad phalanges of the 5th toe [Term] id: HP:0100434 name: Bullet-shaped middle phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010361 ! Bullet-shaped phalanges of the 3rd toe [Term] id: HP:0100435 name: Bullet-shaped middle phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010373 ! Bullet-shaped phalanges of the 4th toe [Term] id: HP:0100436 name: Bullet-shaped middle phalanx of the 5th toe namespace: medical_genetics is_a: HP:0010385 ! Bullet-shaped phalanges of the 5th toe [Term] id: HP:0100437 name: Bullet-shaped proximal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010205 ! Bullet-shaped proximal phalanges of the toes is_a: HP:0010361 ! Bullet-shaped phalanges of the 3rd toe [Term] id: HP:0100438 name: Bullet-shaped proximal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010205 ! Bullet-shaped proximal phalanges of the toes is_a: HP:0010373 ! Bullet-shaped phalanges of the 4th toe [Term] id: HP:0100439 name: Bullet-shaped proximal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0010205 ! Bullet-shaped proximal phalanges of the toes is_a: HP:0010385 ! Bullet-shaped phalanges of the 5th toe [Term] id: HP:0100440 name: Bullet-shaped distal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010361 ! Bullet-shaped phalanges of the 3rd toe [Term] id: HP:0100441 name: Bullet-shaped distal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010373 ! Bullet-shaped phalanges of the 4th toe [Term] id: HP:0100442 name: Bullet-shaped distal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0010385 ! Bullet-shaped phalanges of the 5th toe [Term] id: HP:0100443 name: Curved middle phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010362 ! Curved phalanges of the 3rd toe [Term] id: HP:0100444 name: Curved middle phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010374 ! Curved phalanges of the 4th toe [Term] id: HP:0100445 name: Curved middle phalanx of the 5th toe namespace: medical_genetics is_a: HP:0010386 ! Curved phalanges of the 5th toe [Term] id: HP:0100446 name: Curved proximal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010362 ! Curved phalanges of the 3rd toe [Term] id: HP:0100447 name: Curved proximal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010374 ! Curved phalanges of the 4th toe [Term] id: HP:0100448 name: Curved proximal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0010386 ! Curved phalanges of the 5th toe [Term] id: HP:0100449 name: Curved distal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010362 ! Curved phalanges of the 3rd toe [Term] id: HP:0100450 name: Curved distal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010374 ! Curved phalanges of the 4th toe [Term] id: HP:0100451 name: Curved distal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0010386 ! Curved phalanges of the 5th toe [Term] id: HP:0100452 name: Osteolytic defects of the middle phalanx of the 3rd toe namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0010364 ! Patchy sclerosis of the phalanges of the 3rd toe [Term] id: HP:0100462 name: Patchy sclerosis of the middle phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010376 ! Patchy sclerosis of the phalanges of the 4th toe [Term] id: HP:0100463 name: Patchy sclerosis of the middle phalanx of the 5th toe namespace: medical_genetics is_a: HP:0010388 ! Patchy sclerosis of the phalanges of the 5th toe [Term] id: HP:0100464 name: Patchy sclerosis of the proximal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010364 ! Patchy sclerosis of the phalanges of the 3rd toe [Term] id: HP:0100465 name: Patchy sclerosis of the proximal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010376 ! Patchy sclerosis of the phalanges of the 4th toe [Term] id: HP:0100466 name: Patchy sclerosis of the proximal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0010388 ! Patchy sclerosis of the phalanges of the 5th toe [Term] id: HP:0100467 name: Patchy sclerosis of the distal phalanx of the 3rd toe namespace: medical_genetics is_a: HP:0010364 ! Patchy sclerosis of the phalanges of the 3rd toe [Term] id: HP:0100468 name: Patchy sclerosis of the distal phalanx of the 4th toe namespace: medical_genetics is_a: HP:0010376 ! Patchy sclerosis of the phalanges of the 4th toe [Term] id: HP:0100469 name: Patchy sclerosis of the distal phalanx of the 5th toe namespace: medical_genetics is_a: HP:0010388 ! Patchy sclerosis of the phalanges of the 5th toe [Term] id: HP:0100470 name: Symphalangism affecting the middle phalanx of the 3rd toe namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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: Symphalangism of the middle and proximal phalanges of the 3rd toe namespace: medical_genetics 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: Symphalangism of the middle and proximal phalanges of the 4th toe namespace: medical_genetics 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: Symphalangism of the middle and proximal phalanges of the 5th toe namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0010390 ! Triangular shaped phalanges of the 5th toe [Term] id: HP:0100488 name: Symphalangism of the proximal phalanx of the hallux with the 1st metatarsal namespace: medical_genetics 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:0100237 ! Proximal symphalangism (feet) created_by: doelkens creation_date: 2010-11-18T06:24:21Z [Term] id: HP:0100489 name: Symphalangism of the middle and proximal phalanges of the 2nd toe namespace: medical_genetics alt_id: HP:0100479 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 (hands) namespace: medical_genetics alt_id: HP:0005821 def: "Contractures of one ore more joints of the fingers." [HPO:sdoelken] synonym: "Contractures of the fingers" EXACT [] synonym: "Finger contractures" EXACT [] synonym: "Flexion contractures of the digits" EXACT [] synonym: "Flexion contractures of the fingers" EXACT [] synonym: "Flexion deformities of fingers" EXACT [] synonym: "Joint contractures of the fingers" EXACT [] xref: UMLS:C0016129 xref: UMLS:C0221369 xref: UMLS:C0549188 xref: UMLS:C0685409 is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand is_a: HP:0009473 ! Joint contractures involving the joints of the hand created_by: doelkens creation_date: 2010-12-14T10:46:57Z [Term] id: HP:0100491 name: Abnormality of the joints of the lower limbs namespace: medical_genetics alt_id: HP:0100239 synonym: "Abnormality of the joints of the lower limbs" EXACT [] is_a: HP:0001367 ! Abnormality of the joints 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 namespace: medical_genetics 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 ! Contractures is_a: HP:0100491 ! Abnormality of the joints of the lower limbs created_by: doelkens creation_date: 2010-12-14T11:03:38Z [Term] id: HP:0100493 name: Hypoammonemia namespace: medical_genetics def: "A decreased concentration of `ammonia` (CHEBI:16134) in the `blood` (FMA:9670)." [HPO:gcarletti] is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis created_by: doelkens creation_date: 2010-12-17T03:54:51Z [Term] id: HP:0100494 name: Abnormality of mast cells namespace: medical_genetics def: "An abnormality of `mast cells` (CL:0000097)." [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 created_by: doelkens creation_date: 2010-12-17T04:02:08Z [Term] id: HP:0100495 name: Mastocytosis namespace: medical_genetics def: "The presence of too many `mast cells` (CL:0000097) and CD34+ mast cell precursors in the body." [HPO:sdoelken] is_a: HP:0100494 ! Abnormality of mast cells created_by: doelkens creation_date: 2010-12-17T04:06:36Z [Term] id: HP:0100496 name: Abnormality of the vitamin B3 metabolism namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0001780 ! Abnormality of the toes created_by: doelkens creation_date: 2010-12-17T04:25:31Z [Term] id: HP:0100499 name: Tibial deviation of toes namespace: medical_genetics 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 namespace: medical_genetics 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: Bronchiolitis namespace: medical_genetics is_a: HP:0002837 ! Bronchitis created_by: doelkens creation_date: 2010-12-17T05:58:08Z [Term] id: HP:0100502 name: Vitamin B12 deficiency namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: doelkens creation_date: 2010-12-17T06:13:04Z [Term] id: HP:0100507 name: Vitamin B9 deficiency namespace: medical_genetics is_a: HP:0004340 ! Abnormality of vitamin B metabolism created_by: doelkens creation_date: 2010-12-17T06:13:04Z [Term] id: HP:0100508 name: Abnormality of vitamin metabolism namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0100508 ! Abnormality of vitamin metabolism created_by: doelkens creation_date: 2010-12-17T06:20:30Z [Term] id: HP:0100515 name: Pollakisuria namespace: medical_genetics def: "Increased frequency of urination." [HPO:probinson] is_a: HP:0000082 ! Abnormality of renal physiology created_by: doelkens creation_date: 2010-12-20T10:34:28Z [Term] id: HP:0100516 name: Neoplasm of the ureter namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `ureter` (FMA:9704)." [HPO:probinson] synonym: "Neoplasia of the ureters" RELATED [] is_a: HP:0000069 ! Abnormality of the ureter is_a: HP:0010786 ! Urinary tract neoplasm created_by: doelkens creation_date: 2010-12-20T10:35:11Z [Term] id: HP:0100517 name: Neoplasm of the urethra namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `urethra` (FMA:19667)." [HPO:probinson] synonym: "Neoplasia of the urethra" RELATED [] is_a: HP:0000795 ! Abnormality of the urethra is_a: HP:0010786 ! Urinary tract neoplasm created_by: doelkens creation_date: 2010-12-20T10:36:17Z [Term] id: HP:0100518 name: Dysuria namespace: medical_genetics def: "Painful or difficult `urination` (GO:0060073)." [HPO:probinson] is_a: HP:0000009 ! Functional abnormality of the bladder created_by: doelkens creation_date: 2010-12-20T10:40:36Z [Term] id: HP:0100519 name: Anuria namespace: medical_genetics def: "Absence of urine, clinically classified as below 50ml/day." [HPO:sdoelken] is_a: HP:0011037 ! Decreased urine output created_by: doelkens creation_date: 2010-12-20T10:41:00Z [Term] id: HP:0100520 name: Oliguria namespace: medical_genetics 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. is_a: HP:0011037 ! Decreased urine output created_by: doelkens creation_date: 2010-12-20T10:42:40Z [Term] id: HP:0100521 name: Neoplasia of the thymus namespace: medical_genetics def: "Tumorous growth of the `thymus` (FMA:9607)." [HPO:probinson] is_a: HP:0000777 ! Abnormality of the thymus created_by: doelkens creation_date: 2010-12-20T11:02:03Z [Term] id: HP:0100522 name: Thymoma namespace: medical_genetics def: "A tumor originating from the epithelial cells of the `thymus` (FMA:9607)." [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. is_a: HP:0100521 ! Neoplasia of the thymus created_by: doelkens creation_date: 2010-12-20T11:02:22Z [Term] id: HP:0100523 name: Liver abscess namespace: medical_genetics def: "The presence of an `abscess` (MPATH:608) of the `liver` (FMA:7197)." [HPO:probinson] synonym: "Hepatic abscess" EXACT [] is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0002722 ! Abscess formation in any organ created_by: doelkens creation_date: 2010-12-20T11:13:14Z [Term] id: HP:0100524 name: Limb duplication namespace: medical_genetics synonym: "Dimelia" EXACT [] is_a: HP:0002813 ! Abnormality of the extremities created_by: doelkens creation_date: 2010-12-20T11:32:41Z [Term] id: HP:0100525 name: Urachus fistula namespace: medical_genetics is_a: HP:0010478 ! Abnormality of the urachus created_by: doelkens creation_date: 2010-12-20T11:40:58Z [Term] id: HP:0100526 name: Neoplasia of the lungs namespace: medical_genetics synonym: "Lung tumor" EXACT [] is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0100606 ! Neoplasia of the respiratory system created_by: doelkens creation_date: 2010-12-20T11:47:12Z [Term] id: HP:0100527 name: Neoplasia of the pleura namespace: medical_genetics is_a: HP:0002103 ! Abnormality of the pleura is_a: HP:0100606 ! Neoplasia of the respiratory system created_by: doelkens creation_date: 2010-12-20T11:47:33Z [Term] id: HP:0100528 name: Pleuropulmonary blastoma namespace: medical_genetics 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 ! Neoplasia of the tracheobronchial system created_by: doelkens creation_date: 2010-12-20T11:48:57Z [Term] id: HP:0100529 name: Abnormality of phosphate homeostasis namespace: medical_genetics def: "An abnormality of `phosphate` (CHEBI:26020) homeostasis or concentration in the body." [HPO:probinson] is_a: HP:0003111 ! Abnormality of ion homeostasis created_by: doelkens creation_date: 2010-12-20T11:58:32Z [Term] id: HP:0100530 name: Abnormality of calcium-phosphate metabolism namespace: medical_genetics is_a: HP:0003111 ! Abnormality of ion homeostasis created_by: doelkens creation_date: 2010-12-20T12:00:26Z [Term] id: HP:0100531 name: Wind-swept deformity of the knees namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0000591 ! Abnormality of the sclera is_a: HP:0100533 ! Inflammatory abnormality of the eye created_by: doelkens creation_date: 2010-12-20T03:50:04Z [Term] id: HP:0100533 name: Inflammatory abnormality of the eye namespace: medical_genetics def: "Inflammation of the eye, parts of the eye or the periorbital region." [HPO:sdoelken] is_a: HP:0000478 ! Abnormality of the eye created_by: doelkens creation_date: 2010-12-20T03:53:42Z [Term] id: HP:0100534 name: Episcleritis namespace: medical_genetics is_a: HP:0000591 ! Abnormality of the sclera is_a: HP:0100533 ! Inflammatory abnormality of the eye created_by: doelkens creation_date: 2010-12-20T05:48:22Z [Term] id: HP:0100535 name: Tibiofibular diastasis namespace: medical_genetics 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 namespace: medical_genetics def: "An abnormality of `fascia` (FMA:30318)." [HPO:probinson] is_a: HP:0003549 ! Abnormality of connective tissue created_by: doelkens creation_date: 2010-12-20T05:58:56Z [Term] id: HP:0100537 name: Fasciitis namespace: medical_genetics def: "`Inflammation` (MPATH:212) of `fascia` (FMA:30318)." [HPO:probinson] is_a: HP:0100536 ! Abnormality of the fascia created_by: doelkens creation_date: 2010-12-20T05:59:18Z [Term] id: HP:0100538 name: Abnormality of the supraorbital ridges namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics alt_id: HP:0000626 synonym: "Edema of the eyelids" EXACT [] synonym: "Puffy eyelids" EXACT [] synonym: "Puffy lids" EXACT [] xref: UMLS:C0560024 xref: UMLS:C1533107 xref: UMLS:C1882376 is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0100539 ! Periorbital edema created_by: doelkens creation_date: 2010-12-20T06:09:32Z [Term] id: HP:0100541 name: Femoral hernia namespace: medical_genetics 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. synonym: "Crural hernia" EXACT [] 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 kidneys namespace: medical_genetics synonym: "Abnormal localisation of kidneys" EXACT [] is_a: HP:0000077 ! Abnormality of the kidney created_by: doelkens creation_date: 2010-12-20T06:43:50Z [Term] id: HP:0100543 name: Cognitive impairment namespace: medical_genetics alt_id: HP:0002128 alt_id: HP:0002302 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 impairment" EXACT [] synonym: "Intellectual impairment" EXACT [] synonym: "Mental impairment" EXACT [] xref: UMLS:C0000768 xref: UMLS:C0009240 xref: UMLS:C0338656 xref: UMLS:C0683322 xref: UMLS:C1306341 xref: UMLS:C1516691 xref: UMLS:C1704258 is_a: HP:0002011 ! Abnormality of the central nervous system created_by: doelkens creation_date: 2010-12-20T06:50:32Z [Term] id: HP:0100544 name: Cardiac neoplasm namespace: medical_genetics def: "A `neoplasm` (MPATH:218) of the `heart` (FMA:7088)." [HPO:probinson] synonym: "Cardiac neoplasia" RELATED [] is_a: HP:0001627 ! Abnormality of the heart is_a: HP:0002664 ! Neoplasia created_by: doelkens creation_date: 2010-12-20T07:00:31Z [Term] id: HP:0100545 name: Arterial stenosis namespace: medical_genetics 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 stenosis namespace: medical_genetics 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 the forebrain namespace: medical_genetics def: "An abnormality of the `forebrain` (FMA:61992), which has as its parts the telencephalon, diencephalon, lateral ventricles and third ventricle." [HPO:probinson] is_a: HP:0002011 ! Abnormality of the central nervous system created_by: doelkens creation_date: 2010-12-21T02:12:53Z [Term] id: HP:0100548 name: Exstrophy of gastrointestinal and/or genitourinary organs namespace: medical_genetics is_a: HP:0004298 ! Abnormality of the abdominal wall created_by: doelkens creation_date: 2010-12-21T02:20:01Z [Term] id: HP:0100549 name: Bone marrow failure namespace: medical_genetics is_a: HP:0005561 ! Generalized abnormality of the bone marrow created_by: doelkens creation_date: 2010-12-21T02:43:24Z [Term] id: HP:0100550 name: Rupture of tendons namespace: medical_genetics is_a: HP:0100261 ! Abnormality of the tendons created_by: doelkens creation_date: 2010-12-21T02:58:13Z [Term] id: HP:0100551 name: Neoplasia of the trachea namespace: medical_genetics is_a: HP:0002778 ! Abnormality of the trachea is_a: HP:0100552 ! Neoplasia of the tracheobronchial system created_by: doelkens creation_date: 2010-12-21T03:44:37Z [Term] id: HP:0100552 name: Neoplasia of the tracheobronchial system namespace: medical_genetics is_a: HP:0100526 ! Neoplasia of the lungs created_by: doelkens creation_date: 2010-12-21T03:46:30Z [Term] id: HP:0100553 name: Hemihypertrophy of lower limb namespace: medical_genetics is_a: HP:0001528 ! Hemihypertrophy is_a: HP:0002814 ! Abnormality 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 namespace: medical_genetics is_a: HP:0001528 ! Hemihypertrophy is_a: HP:0002817 ! Abnormality 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 namespace: medical_genetics is_a: HP:0001507 ! Growth abnormality created_by: doelkens creation_date: 2010-12-21T04:00:12Z [Term] id: HP:0100556 name: Hemiatrophy namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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:0100567 name: Endocrine pancreatic insufficiency namespace: medical_genetics is_a: HP:0002581 ! Pancreatic insufficiency is_a: HP:0006476 ! Abnormality of the pancreatic islet cells created_by: doelkens creation_date: 2010-12-21T04:44:36Z [Term] id: HP:0100568 name: Endocrine neoplasia namespace: medical_genetics is_a: HP:0002664 ! Neoplasia created_by: doelkens creation_date: 2010-12-21T04:55:15Z [Term] id: HP:0100569 name: Abnormality of ossification/mineralisation of vertebrae namespace: medical_genetics is_a: HP:0003468 ! Abnormality of the vertebrae is_a: HP:0004348 ! Abnormality of bone mineral density created_by: doelkens creation_date: 2010-12-21T04:50:43Z [Term] id: HP:0100570 name: Carcinoid namespace: medical_genetics 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] is_a: HP:0100568 ! Endocrine neoplasia created_by: doelkens creation_date: 2010-12-21T04:57:15Z [Term] id: HP:0100571 name: Cardiac diverticulum namespace: medical_genetics 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 the cardiac ventricle created_by: doelkens creation_date: 2010-12-21T05:11:26Z [Term] id: HP:0100572 name: Fibrous cardiac diverticulum namespace: medical_genetics 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 aneurysms is_a: HP:0100571 ! Cardiac diverticulum created_by: doelkens creation_date: 2010-12-21T05:14:00Z [Term] id: HP:0100573 name: Muscular cardiac diverticulum namespace: medical_genetics is_a: HP:0100571 ! Cardiac diverticulum created_by: doelkens creation_date: 2010-12-21T05:14:00Z [Term] id: HP:0100574 name: Biliary tract neoplasm namespace: medical_genetics def: "A `neoplasm` (MPATH:218) of the `biliary system` (FMA:79646)." [HPO:probinson] synonym: "Neoplasia of the biliary tract" RELATED [] is_a: HP:0001080 ! Biliary tract abnormality is_a: HP:0007378 ! Gastrointestinal tract neoplasia created_by: doelkens creation_date: 2010-12-21T05:18:27Z [Term] id: HP:0100575 name: Neoplasm of the gallbladder namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `gallbladder` (FMA:7202)." [HPO:probinson] synonym: "Neoplasia of the gallbladder" RELATED [] is_a: HP:0005264 ! Abnormality of the gallbladder is_a: HP:0100574 ! Biliary tract neoplasm created_by: doelkens creation_date: 2010-12-21T05:18:44Z [Term] id: HP:0100576 name: Amaurosis fugax namespace: medical_genetics def: "A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition." [HPO:sdoelken] is_a: HP:0000505 ! Impaired vision created_by: doelkens creation_date: 2010-12-27T12:42:59Z [Term] id: HP:0100577 name: Urinary bladder inflammation namespace: medical_genetics def: "`Inflammation`(MPATH:212) of the `urinary bladder` (FMA:15900)." [HPO:probinson] synonym: "Cystitis of the urinary bladder " EXACT [] is_a: HP:0000009 ! Functional abnormality of the bladder is_a: HP:0000094 ! Urinary tract infections created_by: doelkens creation_date: 2010-12-27T12:49:16Z [Term] id: HP:0100578 name: Lipoatrophy namespace: medical_genetics 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. is_a: HP:0009125 ! Lipodystrophy created_by: doelkens creation_date: 2010-12-27T12:55:33Z [Term] id: HP:0100579 name: Mucosal telangiectasiae namespace: medical_genetics def: "`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." [HPO:sdoelken] is_a: HP:0001009 ! Telangiectasia created_by: doelkens creation_date: 2010-12-27T01:04:18Z [Term] id: HP:0100580 name: Barrett esophagus namespace: medical_genetics 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 [] is_a: HP:0002031 ! Abnormality of the esophagus created_by: doelkens creation_date: 2010-12-27T01:33:00Z [Term] id: HP:0100581 name: Megacalicosis namespace: medical_genetics def: "A nonobstructive dilatation of the renal calices due to malformation of the renal papillae." [HPO:sdoelken] is_a: HP:0000077 ! Abnormality of the kidney created_by: doelkens creation_date: 2010-12-27T02:44:04Z [Term] id: HP:0100582 name: Nasal polyposis namespace: medical_genetics 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] 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 namespace: medical_genetics is_a: HP:0200020 ! Corneal erosions created_by: doelkens creation_date: 2010-12-27T02:52:19Z [Term] id: HP:0100584 name: Endocarditis namespace: medical_genetics def: "An inflammation of the endocardium, the inner layer of the heart, which usually involves the heart valves." [HPO:sdoelken] 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 namespace: medical_genetics is_a: HP:0001009 ! Telangiectasia created_by: doelkens creation_date: 2010-12-27T03:06:35Z [Term] id: HP:0100586 name: Aseptic leukocyturia namespace: medical_genetics is_a: HP:0003110 ! Abnormality of urine homeostasis created_by: doelkens creation_date: 2010-12-27T03:09:12Z [Term] id: HP:0100587 name: Abnormality of the preputium namespace: medical_genetics is_a: HP:0000036 ! Abnormality of the penis created_by: doelkens creation_date: 2010-12-27T03:13:07Z [Term] id: HP:0100588 name: Paraphimosis namespace: medical_genetics 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] 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 namespace: medical_genetics def: "The presence of a `fistula` (MPATH:70) affecting the `genitourinary system` (FMA:280610)." [HPO:probinson] is_a: HP:0008713 ! Genitourinary tract malformation created_by: doelkens creation_date: 2010-12-27T04:09:23Z [Term] id: HP:0100590 name: Rectal fistula namespace: medical_genetics def: "The presence of a `fistula` (MPATH:70) affecting the `rectum` (FMA:14544)." [HPO:probinson] is_a: HP:0002034 ! Abnormality of the rectum is_a: HP:0100589 ! Urogenital fistula created_by: doelkens creation_date: 2010-12-27T04:11:26Z [Term] id: HP:0100592 name: Peritoneal abscess namespace: medical_genetics def: "The presence of an `abscess` (MPATH:608) of the `peritoneum` (FMA:9584)." [HPO:probinson] is_a: HP:0002585 ! Abnormality of the peritoneum created_by: doelkens creation_date: 2010-12-27T04:30:53Z [Term] id: HP:0100593 name: Calcification of cartilage namespace: medical_genetics is_a: HP:0002763 ! Abnormality of cartilage is_a: HP:0010766 ! Ectopic calcifications created_by: doelkens creation_date: 2010-12-27T04:35:28Z [Term] id: HP:0100594 name: Esophageal web namespace: medical_genetics 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] is_a: HP:0002031 ! Abnormality of the esophagus created_by: doelkens creation_date: 2010-12-27T04:51:07Z [Term] id: HP:0100595 name: Camptocormia namespace: medical_genetics 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] 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 namespace: medical_genetics synonym: "Abouphalia" EXACT [] is_a: HP:0100597 ! Aplasia/Hypoplasia of the nares created_by: doelkens creation_date: 2010-12-27T05:07:16Z [Term] id: HP:0100597 name: Aplasia/Hypoplasia of the nares namespace: medical_genetics is_a: HP:0005288 ! Abnormality of the nares created_by: doelkens creation_date: 2010-12-27T05:07:38Z [Term] id: HP:0100598 name: Pulmonary edema namespace: medical_genetics def: "Fluid accumulation in the lungs." [HPO:sdoelken] 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: Diphallia namespace: medical_genetics def: "Duplication of the penis." [HPO:sdoelken] 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 namespace: medical_genetics def: "A partial or complete positional exchange between the penis and the scrotum." [HPO:sdoelken] 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: Ecplampsia namespace: medical_genetics 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] is_a: HP:0100603 ! Toxemia of pregnancy created_by: doelkens creation_date: 2010-12-27T05:26:33Z [Term] id: HP:0100602 name: Preecplampsia namespace: medical_genetics def: "Pregnancy-induced hypertension in association with significant amounts of protein in the urine." [HPO:sdoelken] 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 namespace: medical_genetics def: "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)." [HPO:sdoelken] synonym: "Hypertensive disorder of pregnancy" EXACT [] is_a: HP:0002686 ! Prenatal maternal abnormality created_by: doelkens creation_date: 2010-12-27T05:27:41Z [Term] id: HP:0100604 name: Neoplasm of the lip namespace: medical_genetics def: "A `neoplasm` (MPATH:218) of the `lips` (FMA:59815)." [HPO:probinson] synonym: "Neoplasia of the lip" RELATED [] is_a: HP:0000159 ! Lip abnormality is_a: HP:0002664 ! Neoplasia created_by: doelkens creation_date: 2010-12-27T05:46:46Z [Term] id: HP:0100605 name: Neoplasia of the larynx namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx is_a: HP:0100606 ! Neoplasia of the respiratory system created_by: doelkens creation_date: 2010-12-27T06:07:16Z [Term] id: HP:0100606 name: Neoplasia of the respiratory system namespace: medical_genetics is_a: HP:0002664 ! Neoplasia created_by: doelkens creation_date: 2010-12-27T06:08:41Z [Term] id: HP:0100607 name: Dysmenorrhea namespace: medical_genetics is_a: HP:0000140 ! Abnormality of the menstrual cycle created_by: doelkens creation_date: 2010-12-27T06:13:30Z [Term] id: HP:0100608 name: Metrorrhagia namespace: medical_genetics is_a: HP:0000140 ! Abnormality of the menstrual cycle created_by: doelkens creation_date: 2010-12-27T06:14:01Z [Term] id: HP:0100609 name: Hypermenorrhea namespace: medical_genetics is_a: HP:0000140 ! Abnormality of the menstrual cycle created_by: doelkens creation_date: 2010-12-27T06:16:02Z [Term] id: HP:0100610 name: Maternal hyperphenylalaninemia namespace: medical_genetics is_a: HP:0002686 ! Prenatal maternal abnormality is_a: HP:0004923 ! Hyperphenylalaninemia created_by: doelkens creation_date: 2010-12-27T06:17:13Z [Term] id: HP:0100611 name: Hypoplastic glomerulocystic kidney disease namespace: medical_genetics is_a: HP:0000095 ! Morphological abnormalities of the glomeruli created_by: doelkens creation_date: 2010-12-28T10:23:07Z [Term] id: HP:0100612 name: Odontogenic neoplasm namespace: medical_genetics def: "Neoplasia involving odontogenic cells." [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. is_a: HP:0000164 ! Abnormality of the teeth is_a: HP:0100649 ! Neoplasia of the oral cavity created_by: doelkens creation_date: 2010-12-28T11:03:36Z [Term] id: HP:0100613 name: Death in early adulthood namespace: medical_genetics is_a: HP:0003679 ! Pace of progression created_by: doelkens creation_date: 2010-12-28T11:12:21Z [Term] id: HP:0100614 name: Myositis namespace: medical_genetics 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. is_a: HP:0003011 ! Abnormality of musculature created_by: doelkens creation_date: 2010-12-28T11:14:59Z [Term] id: HP:0100615 name: Ovarian neoplasm namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) the `ovary` (FMA:7209)." [HPO:probinson] synonym: "Neoplasm of the o" EXACT [] synonym: "Ovarian neoplasia" RELATED [] is_a: HP:0000137 ! Abnormality of the ovary is_a: HP:0010785 ! Gonadal neoplasm created_by: doelkens creation_date: 2010-12-28T11:37:01Z [Term] id: HP:0100616 name: Testicular teratoma namespace: medical_genetics def: "The presence of a `teratoma` (MPATH:322) of the `testis` (FMA:7210)." [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 created_by: doelkens creation_date: 2010-12-28T11:42:18Z [Term] id: HP:0100617 name: Testicular seminoma namespace: medical_genetics def: "The presence of a `seminoma` (MPATH:317), an undifferentiated germ cell tumor of the `testis` (FMA:7210)." [HPO:sdoelken] is_a: HP:0010788 ! Testicular neoplasm is_a: HP:0100620 ! Germinoma created_by: doelkens creation_date: 2010-12-28T11:42:18Z [Term] id: HP:0100618 name: Leydig cell neoplasia namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `testis` (FMA:7210) with origin in a `Leydig cell` (CL:0000178)." [HPO:probinson] is_a: HP:0010788 ! Testicular neoplasm is_a: HP:0010789 ! Abnormality of the Leydig cells created_by: doelkens creation_date: 2010-12-28T11:42:18Z [Term] id: HP:0100619 name: Sertoli cell neoplasm namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `testis` (FMA:7210) with origin in a ` Sertoli cell` (CL:0000216)." [HPO:probinson] synonym: "Sertoli cell neoplasia" RELATED [] is_a: HP:0010788 ! Testicular neoplasm created_by: doelkens creation_date: 2010-12-28T11:42:18Z [Term] id: HP:0100620 name: Germinoma namespace: medical_genetics def: "A type of undifferentiated germ cell tumor that may be benign or malignant." [HPO:sdoelken] is_a: HP:0002664 ! Neoplasia created_by: doelkens creation_date: 2010-12-28T11:45:44Z [Term] id: HP:0100621 name: Dysgerminoma namespace: medical_genetics def: "The presence of a `dysgerminoma` (MPATH:312), i.e., an undifferentiated germ cell tumor of the `ovary` (FMA:7209)." [HPO:sdoelken] is_a: HP:0100615 ! Ovarian neoplasm is_a: HP:0100620 ! Germinoma created_by: doelkens creation_date: 2010-12-28T11:47:47Z [Term] id: HP:0100622 name: Maternal seizures namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics synonym: "Wide rib cage" EXACT [] synonym: "Wide thorax" EXACT [] is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage created_by: doelkens creation_date: 2010-12-28T04:14:55Z [Term] id: HP:0100626 name: Chronic hepatic failure namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics synonym: "Esophageal pouch" EXACT [] is_a: HP:0002031 ! Abnormality of the esophagus created_by: doelkens creation_date: 2010-12-29T02:22:08Z [Term] id: HP:0100629 name: Midline facial cleft namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0001739 ! Abnormality of the nasopharynx is_a: HP:0100606 ! Neoplasia of the respiratory system created_by: doelkens creation_date: 2010-12-29T02:23:48Z [Term] id: HP:0100631 name: Adrenal neoplasia namespace: medical_genetics is_a: HP:0100568 ! Endocrine neoplasia created_by: doelkens creation_date: 2010-12-29T02:27:47Z [Term] id: HP:0100632 name: Pulmonary sequestration namespace: medical_genetics 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: "Bronchopulmonary sequestration " EXACT [] 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 namespace: medical_genetics is_a: HP:0002031 ! Abnormality of the esophagus created_by: doelkens creation_date: 2010-12-29T05:09:23Z [Term] id: HP:0100634 name: Neuroendocrine neoplasia namespace: medical_genetics is_a: HP:0100007 ! Neoplasia of the peripheral nervous system is_a: HP:0100568 ! Endocrine neoplasia created_by: doelkens creation_date: 2010-12-29T05:12:37Z [Term] id: HP:0100635 name: Carotid paraganglioma namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0002668 ! Paragangliomas is_a: HP:0100526 ! Neoplasia of the lungs created_by: doelkens creation_date: 2010-12-29T05:23:34Z [Term] id: HP:0100637 name: Neoplasia of the nose namespace: medical_genetics is_a: HP:0100630 ! Neoplasia of the nasopharynx created_by: doelkens creation_date: 2010-12-29T05:31:36Z [Term] id: HP:0100638 name: Neoplasia of the pharynx namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx created_by: doelkens creation_date: 2010-12-29T05:48:37Z [Term] id: HP:0100641 name: Cortical adrenal neoplasia namespace: medical_genetics is_a: HP:0100631 ! Adrenal neoplasia created_by: doelkens creation_date: 2010-12-29T05:53:58Z [Term] id: HP:0100642 name: Medullar adrenal neoplasia namespace: medical_genetics is_a: HP:0100631 ! Adrenal neoplasia created_by: doelkens creation_date: 2010-12-29T05:54:15Z [Term] id: HP:0100643 name: Abnormality of the nail colour namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nail created_by: doelkens creation_date: 2010-12-29T05:59:15Z [Term] id: HP:0100644 name: Melanonychia namespace: medical_genetics is_a: HP:0100643 ! Abnormality of the nail colour created_by: doelkens creation_date: 2010-12-29T06:00:12Z [Term] id: HP:0100645 name: Cystocele namespace: medical_genetics 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] 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 namespace: medical_genetics def: "`Inflammation` (MPATH:212) of the `thyroid gland` (FMA:9603)." [HPO:probinson] is_a: HP:0000820 ! Abnormality of the thyroid gland created_by: doelkens creation_date: 2010-12-29T06:08:32Z [Term] id: HP:0100647 name: Graves disease namespace: medical_genetics 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 [] is_a: HP:0002960 ! Autoimmunity is_a: HP:0100646 ! Thyroiditis created_by: doelkens creation_date: 2010-12-29T06:08:53Z [Term] id: HP:0100648 name: Neoplasia of the tongue namespace: medical_genetics is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0100649 ! Neoplasia of the oral cavity created_by: doelkens creation_date: 2010-12-29T06:14:32Z [Term] id: HP:0100649 name: Neoplasia of the oral cavity namespace: medical_genetics is_a: HP:0000163 ! Abnormality of the oral cavity is_a: HP:0002664 ! Neoplasia created_by: doelkens creation_date: 2010-12-29T06:15:14Z [Term] id: HP:0100650 name: Vaginal neoplasm namespace: medical_genetics def: "The presence of a `neoplasm` (MPATH:218) of the `vagina` (FMA:19949)." [HPO:probinson] synonym: "Vaginal neoplasia" RELATED [] is_a: HP:0000142 ! Abnormality of the vagina is_a: HP:0010787 ! Genital neoplasm created_by: doelkens creation_date: 2010-12-29T06:34:41Z [Term] id: HP:0100651 name: Diabetes mellitus Type I namespace: medical_genetics is_a: HP:0000819 ! Diabetes mellitus created_by: doelkens creation_date: 2010-12-29T06:37:55Z [Term] id: HP:0100652 name: Diabetes mellitus Type II namespace: medical_genetics is_a: HP:0000819 ! Diabetes mellitus created_by: doelkens creation_date: 2010-12-29T06:38:09Z [Term] id: HP:0100653 name: Optic neuritis namespace: medical_genetics def: "`Inflammation` (MPATH:212) of the `optic nerve` (FMA:50863)." [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. is_a: HP:0000587 ! Abnormality of the optic nerve created_by: doelkens creation_date: 2010-12-30T09:56:38Z [Term] id: HP:0100654 name: Retrobulbar optic neuritis namespace: medical_genetics def: "`Optic neuritis`(HP:0100653) that occurs in the section of the optic nerve located behind the eyebal." [HPO:sdoelken] synonym: "Retrobulbar neuritis" EXACT [] is_a: HP:0100653 ! Optic neuritis created_by: doelkens creation_date: 2010-12-30T09:57:09Z [Term] id: HP:0100655 name: Thoracic wall defect namespace: medical_genetics is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0100656 ! Thoracoabdominal wall defects created_by: doelkens creation_date: 2010-12-30T10:03:09Z [Term] id: HP:0100656 name: Thoracoabdominal wall defects namespace: medical_genetics is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0001438 ! Abnormality of the abdomen created_by: doelkens creation_date: 2010-12-30T10:04:18Z [Term] id: HP:0100657 name: Celosomia namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system created_by: doelkens creation_date: 2010-12-30T11:39:15Z [Term] id: HP:0100660 name: Dyskinesis namespace: medical_genetics def: "A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements." [HPO:sdoelken] synonym: "Dyskinesia" EXACT [] is_a: HP:0100022 ! Abnormality of movement created_by: doelkens creation_date: 2010-12-30T11:46:50Z [Term] id: HP:0100661 name: Trigeminal neuralgia namespace: medical_genetics 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 [] 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 namespace: medical_genetics def: "Inflammation of cartilage." [HPO:sdoelken] synonym: "Cartilage inflammation" EXACT [] is_a: HP:0002763 ! Abnormality of cartilage created_by: doelkens creation_date: 2010-12-30T12:57:50Z [Term] id: HP:0100663 name: Synotia namespace: medical_genetics 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] is_a: HP:0000357 ! Abnormal location of ears created_by: doelkens creation_date: 2010-12-30T01:00:36Z [Term] id: HP:0100664 name: Bifid skull namespace: medical_genetics is_a: HP:0000929 ! Abnormality of the skull created_by: doelkens creation_date: 2010-12-30T01:03:38Z [Term] id: HP:0100665 name: Angioedema namespace: medical_genetics 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." [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 [] is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0000969 ! Edema created_by: doelkens creation_date: 2010-12-30T01:09:59Z [Term] id: HP:0100666 name: Hereditary angioedema namespace: medical_genetics is_a: HP:0100665 ! Angioedema created_by: doelkens creation_date: 2010-12-30T01:14:28Z [Term] id: HP:0100667 name: Brachydactyly (hand) namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly created_by: doelkens creation_date: 2010-12-30T01:18:22Z [Term] id: HP:0100668 name: Intestinal duplication namespace: medical_genetics synonym: "Bowel duplication" EXACT [] synonym: "Gut duplication" RELATED [] is_a: HP:0002242 ! Abnormality of the intestine created_by: doelkens creation_date: 2010-12-30T01:23:50Z [Term] id: HP:0100669 name: Abnormal pigmentation of oral cavity namespace: medical_genetics synonym: "Abnormal pigmentation of the oral mucosa/gingivae" EXACT [] is_a: HP:0000163 ! Abnormality of the oral cavity created_by: doelkens creation_date: 2010-12-30T01:25:45Z [Term] id: HP:0100670 name: Rough bone trabeculation namespace: medical_genetics synonym: "Rough trabeculation of bone" EXACT [] is_a: HP:0100671 ! Abnormality of bone trabeculation created_by: doelkens creation_date: 2010-12-30T01:29:46Z [Term] id: HP:0100671 name: Abnormality of bone trabeculation namespace: medical_genetics is_a: HP:0004348 ! Abnormality of bone mineral density created_by: doelkens creation_date: 2010-12-30T01:30:05Z [Term] id: HP:0100672 name: Vaginal hernia namespace: medical_genetics def: "The presence of a `hernia` (MPATH:75) of the `vagina` (FMA:19949)." [HPO:probinson] is_a: HP:0000142 ! Abnormality of the vagina created_by: doelkens creation_date: 2010-12-30T01:35:05Z [Term] id: HP:0100673 name: Vaginal hydrocele namespace: medical_genetics is_a: HP:0100672 ! Vaginal hernia created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100674 name: Vaginal hematocele namespace: medical_genetics is_a: HP:0100672 ! Vaginal hernia created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100675 name: Vaginal pyocele namespace: medical_genetics is_a: HP:0100672 ! Vaginal hernia created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100676 name: Vaginal lymphocele namespace: medical_genetics is_a: HP:0100672 ! Vaginal hernia created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100677 name: Vaginal varicocele namespace: medical_genetics is_a: HP:0100672 ! Vaginal hernia created_by: doelkens creation_date: 2010-12-30T01:36:39Z [Term] id: HP:0100678 name: Wrinkled skin namespace: medical_genetics is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0007495 ! Prematurely aged appearance created_by: doelkens creation_date: 2010-12-30T01:43:36Z [Term] id: HP:0100679 name: Lack of skin elasticity namespace: medical_genetics synonym: "Tight skin" RELATED [] is_a: HP:0000951 ! Abnormality of the skin created_by: doelkens creation_date: 2010-12-30T01:48:15Z [Term] id: HP:0100681 name: Esophageal duplication namespace: medical_genetics is_a: HP:0002031 ! Abnormality of the esophagus created_by: doelkens creation_date: 2010-12-30T02:08:38Z [Term] id: HP:0100682 name: Tracheal atresia namespace: medical_genetics is_a: HP:0002777 ! Tracheal stenosis created_by: doelkens creation_date: 2010-12-30T02:09:37Z [Term] id: HP:0100683 name: Abnormality of balance namespace: medical_genetics synonym: "Abnormality of equilibrium" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system created_by: doelkens creation_date: 2010-12-30T02:14:43Z [Term] id: HP:0100684 name: Salivary gland neoplasia namespace: medical_genetics is_a: HP:0010286 ! Abnormality of the salivary glands is_a: HP:0100649 ! Neoplasia of the oral cavity created_by: doelkens creation_date: 2010-12-30T02:20:38Z [Term] id: HP:0100685 name: Abnormality of Sharpey fibers namespace: medical_genetics 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 namespace: medical_genetics 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 namespace: medical_genetics def: "The presence of an extra auricle on one or both sides of the head." [HPO:sdoelken] is_a: HP:0000356 ! Abnormality of the outer ear created_by: doelkens creation_date: 2010-12-30T02:30:14Z [Term] id: HP:0100688 name: Decreased corneal diameter namespace: medical_genetics is_a: HP:0001120 ! Abnormality of corneal size or shape created_by: doelkens creation_date: 2011-02-18T04:38:36Z [Term] id: HP:0100689 name: Decreased corneal thickness namespace: medical_genetics is_a: HP:0001120 ! Abnormality of corneal size or shape created_by: doelkens creation_date: 2011-02-18T04:40:41Z [Term] id: HP:0100690 name: Mosaic central corneal dystrophy namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0001120 ! Abnormality of corneal size or shape created_by: doelkens creation_date: 2011-02-18T04:58:48Z [Term] id: HP:0100692 name: Steep corneal curvature namespace: medical_genetics 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 namespace: medical_genetics 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:0200000 name: Dysharmonic bone age namespace: medical_genetics xref: UMLS:C0429620 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 namespace: medical_genetics xref: UMLS:C0429620 xref: UMLS:C0521110 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:0200002 name: Splayed metaphyses namespace: medical_genetics xref: UMLS:C1850135 is_a: HP:0003016 ! Metaphyseal widening created_by: sebastiankohler creation_date: 2010-05-31T02:14:47Z [Term] id: HP:0200003 name: Splayed epiphyses namespace: medical_genetics xref: UMLS:C0014570 is_a: HP:0005930 ! Abnormality of the epiphyses created_by: sebastiankohler creation_date: 2010-05-31T02:19:45Z [Term] id: HP:0200004 name: Facial muscle weakness, moderate namespace: medical_genetics xref: UMLS:C0205081 xref: UMLS:C0427055 xref: UMLS:C1881878 is_a: HP:0010628 ! Facial nerve palsy created_by: sebastiankohler creation_date: 2010-05-31T03:25:45Z [Term] id: HP:0200005 name: Abnormal shape of the palpebral fissures namespace: medical_genetics xref: UMLS:C0332482 xref: UMLS:C2077312 is_a: HP:0008050 ! Abnormality of the palpebral fissures created_by: sebastiankohler creation_date: 2010-06-09T07:56:37Z [Term] id: HP:0200006 name: Slanting of the palpebral fissures namespace: medical_genetics xref: UMLS:C2077312 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 namespace: medical_genetics def: "An abnormal size of the palpebral fissures for example unusually long or short palpebral fissures." [HPO:sdoelken] xref: UMLS:C0332508 xref: UMLS:C2077312 is_a: HP:0008050 ! Abnormality of the palpebral fissures created_by: sebastiankohler creation_date: 2010-06-09T08:18:52Z [Term] id: HP:0200008 name: Multiple intestinal polyps namespace: medical_genetics xref: UMLS:C0021846 xref: UMLS:C0021853 xref: UMLS:C0334108 xref: UMLS:C0439064 is_a: HP:0005266 ! Intestinal polyps created_by: sebastiankohler creation_date: 2010-06-09T11:38:54Z [Term] id: HP:0200009 name: Abnormal size of corpus callosum namespace: medical_genetics xref: UMLS:C0010090 xref: UMLS:C0332508 is_a: HP:0001273 ! Abnormality of the corpus callosum created_by: sebastiankohler creation_date: 2010-06-09T11:48:07Z [Term] id: HP:0200010 name: Abnormal thickness of corpus callosum namespace: medical_genetics xref: UMLS:C0010090 xref: UMLS:C0332526 is_a: HP:0001273 ! Abnormality of the corpus callosum created_by: sebastiankohler creation_date: 2010-06-09T11:49:35Z [Term] id: HP:0200011 name: Abnormal length of corpus callosum namespace: medical_genetics xref: UMLS:C0010090 xref: UMLS:C0205161 xref: UMLS:C1444754 xref: UMLS:C1706316 xref: UMLS:C2347472 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 namespace: medical_genetics xref: UMLS:C0010090 xref: UMLS:C1806781 xref: UMLS:C2350002 is_a: HP:0200011 ! Abnormal length of corpus callosum created_by: sebastiankohler creation_date: 2010-06-09T11:52:21Z [Term] id: HP:0200013 name: Neoplasia of fatty tissue namespace: medical_genetics def: "An adipose tissue neoplasia." [HPO:sdoelken] xref: UMLS:C0001527 xref: UMLS:C0027651 is_a: HP:0002664 ! Neoplasia created_by: sebastiankohler creation_date: 2010-06-10T09:37:17Z [Term] id: HP:0200015 name: Symmetric great toe depigmentation namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation created_by: sebastiankohler creation_date: 2010-06-16T11:57:43Z [Term] id: HP:0200016 name: Acrokeratosis namespace: medical_genetics def: "Overgrowth of the skin's horny layer. Normally characterized by nodular configurations of the backs of the toes and fingers." [HPO:skoehler] is_a: HP:0001035 ! Abnormality of keratinization is_a: HP:0200036 ! skin nodules created_by: sebastiankohler creation_date: 2010-06-16T12:18:42Z [Term] id: HP:0200017 name: White matter agenesis namespace: medical_genetics is_a: HP:0002500 ! Abnormality of the cerebral white matter created_by: sebastiankohler creation_date: 2010-06-16T12:37:37Z [Term] id: HP:0200018 name: colorblindness, partial, protan series namespace: medical_genetics is_a: HP:0000551 ! Abnormal color vision created_by: sebastiankohler creation_date: 2010-06-16T12:55:24Z [Term] id: HP:0200019 name: red series defect namespace: medical_genetics is_a: HP:0000551 ! Abnormal color vision created_by: sebastiankohler creation_date: 2010-06-16T12:56:31Z [Term] id: HP:0200020 name: Corneal erosions namespace: medical_genetics def: "Erosions or Abbrasions of the cornea's outermost layer of epithelial cells." [HPO:sdoelken] is_a: HP:0000481 ! Abnormality of the cornea created_by: sebastiankohler creation_date: 2010-06-16T01:50:48Z [Term] id: HP:0200021 name: Rounded shoulders namespace: medical_genetics 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 namespace: medical_genetics def: "`Choroid plexus papilloma` (MPATH:246) is a histologically benign `neoplasm` (MPATH:218) located in the ventricular system of the `choroid plexus` (FMA:61934)." [HPO:skoehler] is_a: HP:0007376 ! Abnormality of the choroid plexus is_a: HP:0100006 ! Neoplasm of the central nervous system created_by: sebastiankohler creation_date: 2010-06-16T04:01:24Z [Term] id: HP:0200023 name: Priapism namespace: medical_genetics 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 [] 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 namespace: medical_genetics def: "The presence of `premature` (PATO:0000694) `sister chromatid segregation` (GO:0000819)." [HPO:probinson] is_a: HP:0002916 ! Abnormality of chromosome segregation created_by: sebastiankohler creation_date: 2010-06-16T05:13:30Z [Term] id: HP:0200025 name: mandibular pain namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0000284 ! Abnormality of the ocular region created_by: sebastiankohler creation_date: 2010-06-16T07:39:04Z [Term] id: HP:0200027 name: contractures of the toes namespace: medical_genetics alt_id: HP:0001860 alt_id: HP:0008367 synonym: "Contractures involving the toes" EXACT [] synonym: "Toe contractures" EXACT [] xref: UMLS:C0009917 xref: UMLS:C0040357 xref: UMLS:C1314939 xref: UMLS:C1406835 is_a: HP:0001780 ! Abnormality of the toes is_a: HP:0008366 ! Contractures involving the joints of the feet created_by: sebastiankohler creation_date: 2010-06-17T10:27:39Z [Term] id: HP:0200028 name: pretibial myxedema namespace: medical_genetics 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:0001482 ! subcutaneous nodules created_by: sebastiankohler creation_date: 2010-06-17T02:32:36Z [Term] id: HP:0200029 name: vasculitis in the skin namespace: medical_genetics is_a: HP:0000951 ! Abnormality of the skin is_a: HP:0002633 ! Vasculitis created_by: sebastiankohler creation_date: 2010-06-17T02:55:19Z [Term] id: HP:0200030 name: punctate vasculitis skin lesions namespace: medical_genetics is_a: HP:0200029 ! vasculitis in the skin created_by: sebastiankohler creation_date: 2010-06-17T02:55:38Z [Term] id: HP:0200031 name: macules namespace: medical_genetics def: "A change in skin surface color, without elevation or depression and, therefore, nonpalpable, well or ill-defined, variously sized, but generally considered less than 10mm for the maximum diameter." [HPO:SKOEHLER] is_a: HP:0001000 ! Abnormality of skin pigmentation created_by: sebastiankohler creation_date: 2010-06-18T12:50:26Z [Term] id: HP:0200032 name: Kayser-Fleischer ring namespace: medical_genetics 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:0000481 ! Abnormality of the cornea created_by: sebastiankohler creation_date: 2010-06-24T12:30:24Z [Term] id: HP:0200033 name: patches namespace: medical_genetics def: "A large macule equal to or greater than 10mm. May have some subtle surface change, such as a fine scale or wrinkling, but although the consistency of the surface is changed, the lesion itself is not palpable." [HPO:SKOEHLER] is_a: HP:0200031 ! macules created_by: sebastiankohler creation_date: 2010-06-18T01:25:04Z [Term] id: HP:0200034 name: skin papules namespace: medical_genetics 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] is_a: HP:0000951 ! Abnormality of the skin created_by: sebastiankohler creation_date: 2010-06-18T01:38:03Z [Term] id: HP:0200035 name: skin plaques namespace: medical_genetics def: "A broad papule, or confluence of papules equal to or greater than 10 mm. Has also been defined as an elevated, plateau-like lesion that is greater in its diameter than in its depth." [HPO:SKOEHLER] is_a: HP:0200034 ! skin papules created_by: sebastiankohler creation_date: 2010-06-18T01:39:28Z [Term] id: HP:0200036 name: skin nodules namespace: medical_genetics 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:0200034 ! skin papules created_by: sebastiankohler creation_date: 2010-06-18T01:48:50Z [Term] id: HP:0200037 name: skin vesicle namespace: medical_genetics def: "A circumscribed, fluid-containing, epidermal elevation generally considered less than 10mm in diameter at the widest point." [HPO:SKOEHLER] is_a: HP:0000951 ! Abnormality of the skin created_by: sebastiankohler creation_date: 2010-06-18T01:58:15Z [Term] id: HP:0200038 name: skin bulla namespace: medical_genetics def: "A large vesicle described as a rounded or irregularly shaped blister containing serous or seropurulent fluid, equal to or greater than 10mm." [HPO:SKOEHLER] is_a: HP:0000951 ! Abnormality of the skin created_by: sebastiankohler creation_date: 2010-06-18T01:59:14Z [Term] id: HP:0200039 name: skin pustule namespace: medical_genetics def: "A small elevation of the skin containing cloudy or purulent material usually consisting of necrotic inflammatory cells." [HPO:SKOEHLER] is_a: HP:0000951 ! Abnormality of the skin created_by: sebastiankohler creation_date: 2010-06-18T02:03:24Z [Term] id: HP:0200040 name: Skin cysts namespace: medical_genetics def: "The presence of one or more `cysts` (MPATH:62) of the `skin` (FMA:7163)." [HPO:skoehler] comment: A cyst is a cavity containing liquid, semisolid, or solid material. is_a: HP:0000951 ! Abnormality of the skin created_by: sebastiankohler creation_date: 2010-06-18T02:08:02Z [Term] id: HP:0200041 name: skin erosion namespace: medical_genetics def: "A discontinuity of the skin exhibiting incomplete loss of the epidermis, a lesion that is moist, circumscribed, and usually depressed." [HPO:SKOEHLER] is_a: HP:0000951 ! Abnormality of the skin created_by: sebastiankohler creation_date: 2010-06-18T02:15:51Z [Term] id: HP:0200042 name: skin ulcer namespace: medical_genetics def: "A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat." [HPO:SKOEHLER] is_a: HP:0000951 ! Abnormality of the skin created_by: sebastiankohler creation_date: 2010-06-18T02:17:00Z [Term] id: HP:0200043 name: verrucae namespace: medical_genetics def: "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:0000951 ! Abnormality of the skin created_by: sebastiankohler creation_date: 2010-06-18T11:35:25Z [Term] id: HP:0200044 name: Porokeratosis namespace: medical_genetics 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] is_a: HP:0001035 ! Abnormality of keratinization created_by: sebastiankohler creation_date: 2010-06-18T11:57:47Z [Term] id: HP:0200045 name: Abnormality of pigmentation namespace: medical_genetics is_a: HP:0001574 ! Abnormality of the integument created_by: sebastiankohler creation_date: 2010-09-16T02:18:54Z [Term] id: HP:0200046 name: Cat cry namespace: medical_genetics 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: Chrondritis of pinna namespace: medical_genetics synonym: "Inflammation of cartilage of pinna" EXACT [] is_a: HP:0000356 ! Abnormality of the outer ear created_by: sebastiankohler creation_date: 2011-02-02T02:02:10Z [Term] id: HP:0200048 name: Cyanotic episode namespace: medical_genetics is_a: HP:0000961 ! Cyanosis created_by: sebastiankohler creation_date: 2011-02-02T02:03:18Z