format-version: 1.2 date: 23:04:2013 07:51 saved-by: peter auto-generated-by: OBO-Edit 2.3 subsetdef: secondary_consequence "Consequence of a disorder in another organ system." default-namespace: human_phenotype ontology: hp [Term] id: HP:0000001 name: All comment: Root of all terms in the Human Phenotype Ontology. [Term] id: HP:0000002 name: Abnormality of body height is_a: HP:0001507 ! Growth abnormality created_by: peter creation_date: 2008-02-27T02:20:00Z [Term] id: HP:0000003 name: Multicystic kidney dysplasia alt_id: HP:0004715 def: "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators] comment: Multicystic kidney dysplasia is the result of abnormal fetal renal development in which the affected kidney is replaced by multiple cysts and has little or no residual function. The vast majority of multicystic kidneys are unilateral. Multicystic kidney can be diagnosed on prenatal ultrasound. synonym: "Multicystic dysplastic kidney" EXACT [] synonym: "Multicystic kidneys" EXACT [] synonym: "Multicystic renal dysplasia." EXACT [] xref: MeSH:D021782 "Multicystic Kidney Dysplasia" xref: UMLS:C0345335 "Multicystic Kidney Dysplasia" is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000004 name: Onset and clinical course comment: Age of onset of clinical signs and symptoms. is_a: HP:0000001 ! All [Term] id: HP:0000005 name: Mode of inheritance alt_id: HP:0001453 alt_id: HP:0001461 def: "The pattern in which a particular genetic trait or disorder is passed from one generation to the next." [HPO:probinson] synonym: "Inheritance" EXACT [] is_a: HP:0000001 ! All [Term] id: HP:0000006 name: Autosomal dominant inheritance alt_id: HP:0001415 alt_id: HP:0001447 alt_id: HP:0001448 alt_id: HP:0001451 alt_id: HP:0001455 alt_id: HP:0001456 alt_id: HP:0001463 def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] synonym: "Autosomal dominant" EXACT [] xref: UMLS:C0443147 "Autosomal dominant" is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0000007 name: Autosomal recessive inheritance alt_id: HP:0001416 alt_id: HP:0001526 def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] synonym: "Autosomal recessive" EXACT [] synonym: "Autosomal recessive predisposition" RELATED [] is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0000008 name: Abnormality of female internal genitalia def: "An abnormality of the `female internal genitalia` (FMA:45654)." [HPO:probinson] is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010460 ! Abnormality of the female genitalia [Term] id: HP:0000009 name: Functional abnormality of the bladder alt_id: HP:0008731 def: "`Dysfunction` (PATO:0001641) of the `urinary bladder` (FMA:15900)." [HPO:probinson] synonym: "Poor bladder function" EXACT [] xref: UMLS:C1848145 "Poor bladder function" is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0000010 name: Recurrent urinary tract infections alt_id: HP:0000094 def: "Repeated infections of the urinary tract." [HPO:curators] synonym: "Frequent urinary tract infections" EXACT [] synonym: "Urinary infection" EXACT [] synonym: "Urinary tract infection" EXACT [] synonym: "Urinary tract infections" EXACT [] synonym: "Urinary tract infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C0042029 "Infections, Urinary Tract" xref: UMLS:C0262655 "Recurrent urinary tract infections" is_a: HP:0002719 ! Recurrent infections is_a: HP:0100577 ! Urinary bladder inflammation [Term] id: HP:0000011 name: Neurogenic bladder 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 "Neurogenic Bladder" is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000012 name: Urinary urgency def: "Urge incontinence is the strong, sudden need to urinate." [HPO:probinson, pmid:12559262] comment: Urinary urgency is the strong, sudden need to urinate and is usually due to bladder spasms or contractions. This symptom is suggestive of, but not necessarily conclusive for urodynamically demonstrable detrusor hyperactivity. synonym: "Overactive bladder syndrome" RELATED [] synonym: "Urgency frequency syndrome" RELATED [] xref: UMLS:C0085606 "Urinary urgency" is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000013 name: Hypoplasia of the uterus alt_id: HP:0001154 alt_id: HP:0008637 def: "Underdevelopment of the `uterus` (FMA:17558)." [HPO:probinson] synonym: "Hypoplastic uterus" EXACT [] synonym: "Rudimentary uterus" EXACT [] xref: UMLS:C1836183 "Hypoplastic uterus" is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus [Term] id: HP:0000014 name: Abnormality of the bladder def: "An abnormality of the `urinary bladder` (FMA:15900)." [HPO:probinson] is_a: HP:0010936 ! Abnormality of the lower urinary tract [Term] id: HP:0000015 name: Bladder diverticula 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 "BLADDER DIVERTICULUM" is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0000016 name: Urinary retention 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: MeSH:D016055 "Urinary Retention" is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000017 name: Nocturia def: "Abnormally increased production of urine during the night leading to an unusually frequent need to urinate." [HPO:sdoelken] comment: Often occuring as a result of heart insufficiency. synonym: "Nycturia" EXACT [HPO:sdoelken] xref: MeSH:D053158 "Nocturia" xref: UMLS:C0028734 "Nycturia" is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000019 name: Urinary hesitancy def: "Difficulty in beginning the process of `urination` (GO:0060073)." [HPO:probinson] xref: UMLS:C0152032 "Hesitancy" is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000020 name: Urinary incontinence alt_id: HP:0006942 alt_id: HP:0008681 def: "Loss of the ability to control the `urinary bladder` (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 [] xref: MeSH:D014549 "Urinary Incontinence" is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000021 name: Lower urinary tract dilatation alt_id: HP:0002838 def: "Dilatation of the `lower urinary tract` (FMA:45659)." [HPO:probinson] is_a: HP:0010936 ! Abnormality of the lower urinary tract [Term] id: HP:0000022 name: Abnormality of male internal genitalia 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. is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0010461 ! Abnormality of the male genitalia [Term] id: HP:0000023 name: Inguinal hernia def: "Protrusion of the contents of the abdominal cavity through the inguinal canal." [HPO:probinson] comment: Inguinal hernia appears as a bulge in the groin. xref: MeSH:D006552 "Hernia, Inguinal" xref: UMLS:C0019294 "Hernias, Inguinal" is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0000024 name: Prostatitis def: "The presence of `inflammation` (MPATH:212) of the `prostate` (FMA:9600)." [HPO:probinson] xref: MeSH:D011472 "Prostatitis" xref: UMLS:C0033581 "prostatitis" is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0000025 name: Functional abnormality of male internal genitalia is_a: HP:0000080 ! Abnormality of genital physiology [Term] id: HP:0000026 name: Male hypogonadism alt_id: HP:0008649 def: "`Decreased functionality` (PATO:0001624) of the male gonad, i.e., of the `testis` (FMA:7210)." [HPO:probinson] xref: UMLS:C0151721 "Eunuchoidism" 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 def: "Absence of any measurable level of sperm in his semen." [HPO:probinson, pmid:20514278] xref: MeSH:D053713 "Azoospermia" xref: UMLS:C0004509 "AZOSPERMIA" is_a: HP:0008669 ! Abnormal spermatogenesis [Term] id: HP:0000028 name: Cryptorchidism alt_id: HP:0000797 def: "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: MeSH:D003456 "Cryptorchidism" xref: UMLS:C0010417 "Cryptorchidism" is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000029 name: Testicular atrophy xref: UMLS:C0156312 "Testicular atrophy" is_a: HP:0008734 ! Decreased testicular size [Term] id: HP:0000030 name: Testicular gonadoblastoma def: "The presence of a `gonadoblastoma` (MPATH:315) of the `testis` (FMA:7210)." [HPO:probinson] synonym: "Gonadoblastoma, male" RELATED [] is_a: HP:0000150 ! Gonadoblastoma is_a: HP:0010788 ! Testicular neoplasm [Term] id: HP:0000031 name: Epididymitis def: "The presence of `inflammation` (MPATH:212) of the `epididymis` (FMA:18255)." [HPO:probinson] xref: MeSH:D004823 "Epididymitis" xref: UMLS:C0014534 "Epididymitis" is_a: HP:0009714 ! Abnormality of the epididymis [Term] id: HP:0000032 name: Abnormality of male external genitalia def: "An abnormality of `male external genitalia` (FMA:45642)." [HPO:probinson] is_a: HP:0000811 ! Abnormal external genitalia is_a: HP:0010461 ! Abnormality of the male genitalia [Term] id: HP:0000033 name: Ambiguous genitalia, male def: "`Ambiguous genitalia` (HP:0000062) in an individual with XY genetic gender." [HPO:probinson] synonym: "Ambiguous genitalia in males" EXACT [] is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0000034 name: Hydrocele testis def: "Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis." [HPO:probinson] synonym: "Testicular hydrocele" EXACT [] xref: MeSH:D006848 "Testicular Hydrocele" is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000035 name: Abnormality of the testis is_a: HP:0000022 ! Abnormality of male internal genitalia [Term] id: HP:0000036 name: Abnormality of the penis is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000037 name: Male pseudohermaphroditism def: "Hermaphroditism refers to a discrepancy between the morphology of the gonads and that of the external genitalia. In male pseudohermaphroditism, the genotype is male (XY) and the external genitalia are imcompletely virilized, ambiguous, or complete female. If gonads are present, they are testes." [HPO:curators] xref: UMLS:C0238395 "Male Pseudohermaphroditism" is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000039 name: Epispadias def: "Displacement of the urethral opening on the dorsal (superior) surface of the penis." [HPO:curators] xref: MeSH:D004842 "Epispadias" xref: UMLS:C0014588 "Epispadias" is_a: HP:0100627 ! Displacement of the external urethral meatus [Term] id: HP:0000040 name: Enlarged penis synonym: "Large penis" EXACT [] xref: UMLS:C0269011 "Large penis" is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0000041 name: Chordee def: "A condition in which the head of the penis curves downward." [HPO:curators] xref: UMLS:C0221182 "Chordee" is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0000042 name: Absent external genitalia xref: UMLS:C1848869 "Absent external genitalia" is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000044 name: Hypogonadotrophic hypogonadism alt_id: HP:0008224 def: "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] synonym: "Hypogonadism, hypogonadotropic" EXACT [] synonym: "Isolated hypogonadotropic hypogonadism" RELATED [] xref: UMLS:C0271623 "HYPOGONADISM, ISOLATED HYPOGONADOTROPIC" is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000045 name: Abnormality of the scrotum is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000046 name: Scrotal hypoplasia synonym: "Hypoplastic scrotum" EXACT [] xref: UMLS:C1853568 "Scrotal hypoplasia" is_a: HP:0000045 ! Abnormality of the scrotum is_a: HP:0000050 ! Hypoplastic genitalia [Term] id: HP:0000047 name: Hypospadias def: "Displacement of the urethral opening on the ventral (inferior) surface of the penis." [HPO:curators] xref: MeSH:D007021 "Hypospadias" xref: UMLS:C0848558 "Hypospadias" is_a: HP:0100627 ! Displacement of the external urethral meatus [Term] id: HP:0000048 name: Bifid scrotum def: "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 "Bifid scrotum" is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0000049 name: Shawl scrotum def: "A condition in which the upper scrotal skin rises over the base of the penis." [HPO:curators] synonym: "Overriding scrotum" EXACT [] xref: UMLS:C1858539 "Shawl scrotum" is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0000050 name: Hypoplastic genitalia xref: UMLS:C1842582 "Hypoplastic genitalia" is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0003241 ! Genital hypoplasia [Term] id: HP:0000051 name: Perineal hypospadias xref: UMLS:C0452148 "Hypospadias, perineal" is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000052 name: Urethral atresia, male def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in males." [HPO:probinson] is_a: HP:0000036 ! Abnormality of the penis is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000053 name: Macroorchidism def: "The presence of abnormally large testes." [HPO:probinson] xref: UMLS:C1263023 "Macroorchidism" is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000054 name: Micropenis alt_id: HP:0000038 def: "Abnormally small `penis` (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:C0266435 "Micropenis" is_a: HP:0008736 ! Hypoplasia of penis [Term] id: HP:0000055 name: Abnormality of female external genitalia def: "An abnormality of the `female external genitalia` (FMA:45649)." [HPO:probinson] is_a: HP:0000811 ! Abnormal external genitalia is_a: HP:0010460 ! Abnormality of the female genitalia [Term] id: HP:0000056 name: Abnormality of the clitoris def: "An abnormality of the `clitoris` (FMA:9909)." [HPO:probinson] xref: UMLS:C0156394 "Enlarged clitoris" is_a: HP:0000055 ! Abnormality of female external genitalia [Term] id: HP:0000057 name: Clitoromegaly 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:C1837531 "Prominent clitoris" is_a: HP:0000056 ! Abnormality of the clitoris [Term] id: HP:0000058 name: Abnormality of the labia is_a: HP:0000055 ! Abnormality of female external genitalia [Term] id: HP:0000059 name: Hypoplastic labia majora synonym: "Hypoplasia of labia majora" EXACT [] synonym: "Small labia majora" EXACT [] xref: UMLS:C1858540 "Hypoplastic labia majora" is_a: HP:0000066 ! Labial hypoplasia [Term] id: HP:0000060 name: Clitoral hypoplasia def: "Developmental hypoplasia of the `clitoris` (FMA:9909)." [HPO:probinson] synonym: "Hypoplastic clitoris" EXACT [] synonym: "Small clitoris" EXACT [] xref: UMLS:C1844527 "Clitoral hypoplasia" is_a: HP:0000056 ! Abnormality of the clitoris is_a: HP:0003241 ! Genital hypoplasia [Term] id: HP:0000061 name: Ambiguous genitalia, female 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 [] is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0000062 name: Ambiguous genitalia alt_id: HP:0008685 alt_id: HP:0008693 def: "A genital phenotype that is not clearly assignable to a single gender. Ambiguous genitalia can be evaluated using the Prader scale: Prader 0: Normal female external genitalia. Prader 1: Female external genitalia with clitoromegaly. Prader 2: Clitoromegaly with partial labial fusion forming a funnel-shaped urogenital sinus. Prader 3: Increased phallic enlargement. Complete labioscrotal fusion forming a urogenital sinus with a single opening. Prader 4: Complete scrotal fusion with urogenital opening at the base or on the shaft of the phallus. Prader 5: Normal male external genitalia. The diagnosis of ambiguous genitalia is made for Prader 1-4." [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:C0266362 "Ambiguous genitalia" is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0000063 name: Fused labia minora def: "Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction." [HPO:curators] xref: UMLS:C1837532 "Fused labia minora" is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0000064 name: Hypoplastic labia minora xref: UMLS:C1849295 "Hypoplastic labia minora" is_a: HP:0000066 ! Labial hypoplasia [Term] id: HP:0000065 name: Labial hypertrophy xref: UMLS:C0404531 "Labial hypertrophy" is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0000066 name: Labial hypoplasia synonym: "Hypoplastic labia" EXACT [] xref: UMLS:C1844528 is_a: HP:0000058 ! Abnormality of the labia is_a: HP:0003241 ! Genital hypoplasia [Term] id: HP:0000067 name: Urethral atresia, female def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra in females." [HPO:probinson] is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000068 name: Urethral atresia def: "Congenital anomaly characterized by closure or failure to develop an opening in the urethra." [HPO:probinson] xref: UMLS:C1610065 "Urethral atresia" is_a: HP:0000795 ! Abnormality of the urethra is_a: HP:0000809 ! Urinary tract atresia [Term] id: HP:0000069 name: Abnormality of the ureter 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:C1840382 "Ureteral anomalies" is_a: HP:0010935 ! Abnormality of the upper urinary tract [Term] id: HP:0000070 name: Ureterocele def: "A ureterocele is a congenital saccular dilatation of the distal segment of the ureter." [eMedicine:453993] xref: MeSH:D014518 "Ureterocele" xref: UMLS:C0041960 "Ureterocele" is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000071 name: Ureteral stenosis def: "The presence of a stenotic, i.e., `constricted` (PATO:0001847) `ureter` (FMA:9704)." [HPO:probinson] xref: UMLS:C0521618 "Ureteral stenosis" is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000072 name: Hydroureter 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 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000073 name: Ureteral duplication def: "A developmental anomaly characterized by the presence of two, instead of one, ureter connecting a kidney to the bladder." [HPO:curators] synonym: "Double ureter" EXACT [] xref: UMLS:C1848759 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000074 name: Ureteropelvic junction obstruction synonym: "Pelviureteric junction obstruction" EXACT [] xref: UMLS:C0948710 is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000075 name: Renal duplication def: "A congenital anomaly of the urinary tract, in which the `kidney` (FMA:7203) is duplicated and is drained via two separate renal pelves and ureters." [HPO:probinson] synonym: "Supernumerary kidney" RELATED [] xref: UMLS:C1849336 "Renal duplication" is_a: HP:0012210 ! Abnormal renal morphology created_by: peter creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000076 name: Vesicoureteral reflux alt_id: HP:0005998 alt_id: HP:0006002 alt_id: HP:0008667 def: "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:probinson] synonym: "Ureteral reflux" EXACT [] synonym: "Ureteric reflux" EXACT [] synonym: "Vesicoureteric reflux" EXACT [] xref: MeSH:D014718 "Vesico-ureteral reflux" is_a: HP:0000009 ! Functional abnormality of the bladder is_a: HP:0000069 ! Abnormality of the ureter [Term] id: HP:0000077 name: Abnormality of the kidney def: "An abnormality of the `kidney` (FMA:7203)." [HPO:probinson] comment: The kidney is a paired organ whose primary function is the production of urine. synonym: "Kidney disease" RELATED [] synonym: "Renal anomalies" EXACT [] synonym: "Renal anomaly" EXACT [] is_a: HP:0010935 ! Abnormality of the upper urinary tract [Term] id: HP:0000078 name: Abnormality of the genital system def: "An abnormality of the `genital system` (FMA:7160)." [HPO:probinson] synonym: "Abnormality of the reproductive system" RELATED [] synonym: "Genital abnormalities" EXACT [] synonym: "Genital abnormality" EXACT [] synonym: "Genital anomalies" EXACT [] synonym: "Genital defects" EXACT [] xref: UMLS:C0744356 "GENITAL ABNORMALITY" is_a: HP:0000119 ! Abnormality of the genitourinary system [Term] id: HP:0000079 name: Abnormality of the urinary system 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:C0158698 "URINARY TRACT ANOMALY" is_a: HP:0000119 ! Abnormality of the genitourinary system [Term] id: HP:0000080 name: Abnormality of genital physiology def: "An `abnormal` (PATO:0000460) `functionality` (PATO:0001509) of the `genital system` (FMA:7160)." [HPO:probinson] synonym: "Genital functional abnormality" EXACT [] is_a: HP:0000078 ! Abnormality of the genital system [Term] id: HP:0000081 name: Duplicated collecting system def: "A duplication of the collecting system of the kidney." [HPO:probinson] synonym: "Double collecting system" EXACT [] synonym: "Double urinary collecting systems on intravenous pyelography" EXACT [] synonym: "Duplicated renal collecting system" EXACT [] xref: UMLS:C1858565 is_a: HP:0000073 ! Ureteral duplication is_a: HP:0004742 ! Abnormality of the renal collecting system created_by: peter creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000082 name: Abnormality of renal physiology 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:C1848822 "Renal dysfunction" is_a: HP:0011277 ! Abnormality of the urinary system physiology [Term] id: HP:0000083 name: Renal insufficiency alt_id: HP:0000084 alt_id: HP:0004723 def: "A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism." [HPO:probinson] synonym: "Renal failure" EXACT [] synonym: "Renal failure in adulthood" EXACT [] xref: MeSH:D051437 "Renal Insufficiency" xref: UMLS:C1963154 "Renal failure" is_a: HP:0000082 ! Abnormality of renal physiology [Term] id: HP:0000085 name: Horseshoe kidney def: "A connection of the right and left kidney by an isthmus of functioning renal parenchyma or fibrous tissue that crosses the midline." [HPO:probinson] synonym: "Horseshoe kidneys" EXACT [] xref: UMLS:C0221353 "Horseshoe kidney" is_a: HP:0100542 ! Abnormal localization of kidneys [Term] id: HP:0000086 name: Ectopic kidney def: "A developmental defect in which a kidney is located in an abnormal anatomic position." [HPO:probinson] synonym: "Ectopic kidneys" EXACT [] synonym: "Renal ectopia" EXACT [] xref: UMLS:C0238207 is_a: HP:0100542 ! Abnormal localization of kidneys [Term] id: HP:0000089 name: Renal hypoplasia alt_id: HP:0001968 alt_id: HP:0004741 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:C0266295 is_a: HP:0008678 ! Renal hypoplasia/aplasia [Term] id: HP:0000090 name: Nephronophthisis comment: Progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. xref: UMLS:C0687120 "Medullary cystic disease NOS" is_a: HP:0100957 ! Abnormality of the renal medulla [Term] id: HP:0000091 name: Abnormality of the renal tubule def: "An abnormality of the `renal tubules` (FMA:15627)." [HPO:probinson] comment: The renal tubules are reabsorptive canals that are involved in the secreting, collecting, and conducting of the urine. is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000092 name: Tubular atrophy alt_id: HP:0005578 def: "The presence of renal tubules with thick redundant basement membranes, or a reduction of greater than 50% in tubular diameter compared to surrounding non-atrophic tubules." [HPO:probinson] synonym: "Renal tubular cell atrophy" EXACT [] xref: UMLS:C1858395 is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0000093 name: Proteinuria def: "Increased levels of protein in the urine." [HPO:probinson] xref: MeSH:D011507 "Proteinuria" xref: UMLS:C0033687 is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0000095 name: Morphological abnormalities of the glomeruli is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000096 name: Glomerulosclerosis xref: UMLS:C0178664 "glomerular sclerosis" is_a: HP:0000095 ! Morphological abnormalities of the glomeruli [Term] id: HP:0000097 name: Focal segmental glomerulosclerosis synonym: "Focal and segmental glomerular sclerosis" EXACT [] synonym: "Focal and segmental glomerulosclerosis" EXACT [] xref: MeSH:D005923 "Glomerulosclerosis, Focal Segmental" is_a: HP:0000096 ! Glomerulosclerosis [Term] id: HP:0000098 name: Tall stature alt_id: HP:0001527 alt_id: HP:0003515 alt_id: HP:0003516 def: "A height above that which is expected according to age and gender norms." [HPO:probinson] synonym: "Accelerated linear growth" EXACT [] synonym: "Increased body height" EXACT [] synonym: "Increased linear growth" EXACT [] xref: UMLS:C0241240 xref: UMLS:C1837794 "Increased linear growth" is_a: HP:0000002 ! Abnormality of body height created_by: peter creation_date: 2008-02-27T02:21:00Z [Term] id: HP:0000099 name: Glomerulonephritis def: "Inflammation of the renal glomeruli." [HPO:probinson] synonym: "Glomrulonephritis" EXACT [] xref: MeSH:D005921 "Glomerulonephritis" xref: UMLS:C0017658 "Glomerulonephritis" is_a: HP:0000095 ! Morphological abnormalities of the glomeruli is_a: HP:0000123 ! Nephritis [Term] id: HP:0000100 name: Nephrotic syndrome alt_id: HP:0000801 alt_id: HP:0004718 def: "Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia." [HPO:probinson] comment: In adults, nephrotic syndrome is characterized by protein excretion of 3.5 g or more per day. In children, nephrotic syndrome is accompanied by protein excretion of more than 40 mg/m2/h. synonym: "Nephrosis" EXACT [] xref: MeSH:D009404 "Nephrotic Syndrome" is_a: HP:0000082 ! Abnormality of renal physiology is_a: HP:0100820 ! Glomerulopathy [Term] id: HP:0000103 name: Polyuria 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: MeSH:D011141 "Polyuria" xref: UMLS:C0032617 "Polyuria" is_a: HP:0011036 ! Abnormality of renal excretion [Term] id: HP:0000104 name: Renal agenesis alt_id: HP:0000785 alt_id: HP:0004745 alt_id: HP:0008680 def: "`Agenesis` (MPATH:57), that is, 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 [] synonym: "Renal aplasia" EXACT [] xref: UMLS:C0220706 is_a: HP:0008678 ! Renal hypoplasia/aplasia [Term] id: HP:0000105 name: Enlarged kidneys def: "An abnormal increase in the size of the kidney." [HPO:probinson] comment: The main causes of large kidney are hydronephrosis, polycystic disease, renal cell carcinoma, nephroblastoma/Wilm's tumor (in children), and solitary cysts. If possible, a specific term should be used instead of this one. synonym: "Large kidneys" EXACT [] synonym: "Renal enlargement" EXACT [] xref: UMLS:C0542518 is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000106 name: Progressive renal insufficiency alt_id: HP:0001918 synonym: "Progressive renal failure" EXACT [] synonym: "Renal insufficiency, progressive" EXACT [] xref: UMLS:C0748318 "Progressive renal failure" is_a: HP:0000083 ! Renal insufficiency [Term] id: HP:0000107 name: Renal cysts alt_id: HP:0000088 alt_id: HP:0000109 synonym: "Cystic kidney disease" RELATED [] xref: UMLS:C0268800 "Renal cysts" is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000108 name: Renal corticomedullary cysts def: "The presence of multiple cysts at the border between the renal cortex and medulla." [HPO:probinson] synonym: "Corticomedullary renal cysts" EXACT [] synonym: "Renal corticomedullary cystic disease" EXACT [] xref: UMLS:C1968619 "Corticomedullary renal cysts" is_a: HP:0000107 ! Renal cysts is_a: HP:0011035 ! Abnormality of the renal cortex is_a: HP:0100957 ! Abnormality of the renal medulla [Term] id: HP:0000110 name: Renal dysplasia alt_id: HP:0000116 alt_id: HP:0004721 def: "The presence of `developmental dysplasia` (MPATH:64) of the `kidney` (FMA:7203)." [HPO:probinson] synonym: "Dysplastic kidneys" EXACT [] synonym: "Renal adysplasia" EXACT [] xref: UMLS:C0266313 "Renotubular dysgenesis" is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000111 name: Renal juxtaglomerular cell hypertrophy/hyperplasia is_a: HP:0000095 ! Morphological abnormalities of the glomeruli [Term] id: HP:0000112 name: Nephropathy def: "A nonspecific term referring to disease or damage of the kidneys." [HPO:curators] xref: UMLS:C0022658 "Kidney disease" is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000113 name: Polycystic kidney dysplasia alt_id: HP: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: MeSH:D007690 "Polycystic kidney diseases" is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000114 name: Proximal tubulopathy def: "Dysfunction of the proximal tubule, which is the portion of the duct system of the nephron of the kidney which leads from Bowman's capsule to the loop of Henle." [HPO:probinson] synonym: "Proximal renal tubule defect" EXACT [] synonym: "Proximal renal tubulopathy" EXACT [] synonym: "Proximal tubular defect" EXACT [] synonym: "Proximal tubule dysfunction" EXACT [] xref: UMLS:C1859342 is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0000117 name: Decreased renal tubular phosphate reabsorption 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:C1845169 is_a: HP:0000127 ! Renal salt wasting [Term] id: HP:0000118 name: Phenotypic abnormality 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 [] is_a: HP:0000001 ! All [Term] id: HP:0000119 name: Abnormality of the genitourinary system 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 disease" RELATED [] synonym: "Genitourinary tract anomalies" EXACT [] synonym: "Urogenital abnormalities" EXACT [] synonym: "Urogenital anomalies" EXACT [] xref: MeSH:D014564 "Urogenital Abnormalities" xref: UMLS:C1844502 "GENITOURINARY TRACT ANOMALIES" is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000120 name: Reduced creatinine clearance def: "Renal clearance is defined as the volume of plasma per minute needed to excrete the quantity of a solute appearing in the urine in a minute. Normal values for adults are 97 to 137 ml/min (male) and 88 to 128 ml/min (female). This term refers to a reduction below normal limits in the ability of the kidney to clear creatinine from the bloodstream." [HPO:probinson] synonym: "Impaired renal creatinine clearance" EXACT [] xref: UMLS:C1856356 "Reduced creatinine clearance" is_a: HP:0011036 ! Abnormality of renal excretion [Term] id: HP:0000121 name: Nephrocalcinosis xref: MeSH:D009397 "Nephrocalcinosis" xref: UMLS:C0027709 "Nephrocalcinosis" is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000122 name: Unilateral renal agenesis def: "A `unilateral` (PATO:0000634) form of `agenesis` (MPATH:57) of the `kidney` (FMA:7203)." [HPO:probinson] synonym: "Unilateral kidney agenesis" EXACT [] xref: UMLS:C0266294 "Unilateral kidney agenesis" is_a: HP:0000104 ! Renal agenesis [Term] id: HP:0000123 name: Nephritis def: "The presence of `inflammation` (MPATH:212) affecting the `kidney` (FMA:7203)." [HPO:probinson] xref: MeSH:D009393 "Nephritis" xref: UMLS:C0027697 "Nephritis" is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000124 name: Renal tubular dysfunction synonym: "Renal tubular defect" EXACT [] synonym: "Renal tubular disease" EXACT [] xref: UMLS:C0268709 "Renal tubular defect" is_a: HP:0000082 ! Abnormality of renal physiology [Term] id: HP:0000125 name: Pelvic kidney def: "A developmental defect in which a kidney is located in an abnormal anatomic position within the pelvis." [HPO:probinson] xref: UMLS:C0221209 "Pelvic kidney" is_a: HP:0000086 ! Ectopic kidney [Term] id: HP:0000126 name: Hydronephrosis def: "Severe distention of the kidney with dilation of the renal pelvis and calyces, caused by retrograde pressure on the kidney when the flow of urine is obstructed." [HPO:probinson] xref: MeSH:D006869 "Hydronephrosis" xref: UMLS:C0020295 "Hydronephrosis" is_a: HP:0010946 ! Dilatation of the renal pelvis [Term] id: HP:0000127 name: Renal salt wasting synonym: "Renal salt-wasting" EXACT [] synonym: "Salt wasting" EXACT [] synonym: "Salt-wasting" EXACT [] xref: UMLS:C1846347 is_a: HP:0000082 ! Abnormality of renal physiology is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0000128 name: Renal potassium wasting xref: UMLS:C1846348 "Renal potassium wasting" is_a: HP:0000127 ! Renal salt wasting [Term] id: HP:0000130 name: Abnormality of the uterus 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:C0266383 "Uterine abnormalities" is_a: HP:0000008 ! Abnormality of female internal genitalia [Term] id: HP:0000131 name: Uterine leiomyoma 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 [] is_a: HP:0010784 ! Uterine neoplasm [Term] id: HP:0000132 name: Menorrhagia def: "Abnormally heavy and prolonged menstrual period." [HPO:probinson] xref: UMLS:C0025323 "Menorrhagia" is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000133 name: Gonadal dysgenesis alt_id: HP:0003243 synonym: "Mixed gonadal dysgenesis" EXACT [] synonym: "Pure gonadal dysgenesis" EXACT [] xref: MeSH:D006059 "Gonadal Dysgenesis" xref: UMLS:C0018051 "Gonadal Dysgenesis" is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0000134 name: Female hypogonadism def: "`Decreased functionality` (PATO:0001624) of the female gonads, i.e., of the `ovary` (FMA:7209)." [HPO:probinson] synonym: "Hypogonadism, female" EXACT [] is_a: HP:0000135 ! Hypogonadism is_a: HP:0000137 ! Abnormality of the ovary [Term] id: HP:0000135 name: Hypogonadism def: "A `decreased functionality` (PATO:0001624) of the `gonad` (FMA:18250)." [HPO:curators] comment: Reduced functioning of the gonads (ovaries or testes) with reduced production of sex hormones. xref: MeSH:D007006 "Hypogonadism" xref: UMLS:C0020619 "Hypogonadism" is_a: HP:0000080 ! Abnormality of genital physiology is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000136 name: Bifid uterus 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 "Bifid uterus" is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0000137 name: Abnormality of the ovary def: "An abnormality of the `ovary` (FMA:7209)." [HPO:probinson] synonym: "Abnormality of the ovaries" EXACT [] synonym: "Ovarian disease" RELATED [] is_a: HP:0000008 ! Abnormality of female internal genitalia [Term] id: HP:0000138 name: Ovarian cysts alt_id: HP:0000146 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 [] synonym: "Ovarian cystic abnormality" EXACT [] xref: MeSH:D010048 "Ovarian cysts" xref: UMLS:C0029927 "Ovarian Cysts" is_a: HP:0000137 ! Abnormality of the ovary [Term] id: HP:0000139 name: Uterine prolapse alt_id: HP:0100824 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: MeSH:D014596 "Uterine Prolapse" xref: UMLS:C0042140 "Uterine Prolapse" is_a: HP:0000130 ! Abnormality of the uterus is_a: HP:0100823 ! Genital hernia [Term] id: HP:0000140 name: Abnormality of the menstrual cycle def: "An abnormality of the `ovulation cycle` (GO:0042698)." [HPO:probinson] synonym: "Menstrual abnormalities" RELATED [] is_a: HP:0000008 ! Abnormality of female internal genitalia is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000141 name: Amenorrhea xref: MeSH:D000568 "Amenorrhea" xref: UMLS:C2219717 "amenorrhea" is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000142 name: Abnormality of the vagina alt_id: HP:0008650 def: "An abnormality of the `vagina` (FMA:19949)." [HPO:probinson] synonym: "Vaginal malformation" EXACT [] xref: UMLS:C1856023 "Vaginal malformation" is_a: HP:0000008 ! Abnormality of female internal genitalia [Term] id: HP:0000143 name: Rectovaginal fistula def: "The presence of a `fistula` (MPATH:70) between the `vagina` (FMA:19949) and the `rectum` (FMA:14544)." [HPO:probinson] xref: MeSH:D012006 "Rectovaginal fistula" xref: UMLS:C0034895 "Rectovaginal Fistula" is_a: HP:0004320 ! Vaginal fistula is_a: HP:0100590 ! Rectal fistula [Term] id: HP:0000144 name: Decreased fertility xref: UMLS:C0520927 "Decreased fertility" is_a: HP:0000080 ! Abnormality of genital physiology [Term] id: HP:0000145 name: Transverse vaginal septum synonym: "Transverse vaginal membrane" EXACT [] xref: UMLS:C1858564 "Transverse vaginal septum" is_a: HP:0001153 ! Septate vagina [Term] id: HP:0000147 name: Polycystic ovaries alt_id: HP:0008644 alt_id: HP:0008657 synonym: "Polycystic ovary" EXACT [] synonym: "Polycystic ovary disease" EXACT [] synonym: "Sclerocystic ovaries" EXACT [] xref: UMLS:C0032460 "Polycystic ovaries" is_a: HP:0000138 ! Ovarian cysts [Term] id: HP:0000148 name: Vaginal atresia def: "Congenital occlusion of the vagina or adhesion of the walls of the vagina causing occlusion." [HPO:probinson] xref: UMLS:C1321884 "Vaginal atresia" is_a: HP:0000142 ! Abnormality of the vagina is_a: HP:0001827 ! Genital tract atresia [Term] id: HP:0000149 name: Ovarian gonadoblastoma def: "The presence of a `gonadoblastoma` (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 [] is_a: HP:0000150 ! Gonadoblastoma is_a: HP:0100615 ! Ovarian neoplasm [Term] id: HP:0000150 name: Gonadoblastoma alt_id: HP:0006745 def: "The presence of a `gonadoblastoma` (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: MeSH:D018238 "Gonadoblastoma" xref: UMLS:C0206661 "Gonadoblastoma" is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0100728 ! Germ cell neoplasia [Term] id: HP:0000151 name: Aplasia of the uterus def: "`Aplasia` (MPATH:58) of the `uterus` (FMA:17558)." [HPO:probinson] synonym: "Absent uterus" EXACT [] xref: UMLS:C0425913 "Absent uterus" is_a: HP:0008684 ! Aplasia/hypoplasia of the uterus [Term] id: HP:0000152 name: Abnormality of head and neck 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 [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000153 name: Abnormality of the mouth def: "An abnormality of the `mouth` (FMA:49184)." [HPO:probinson] is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000154 name: Wide mouth alt_id: HP:0000181 alt_id: HP:0002052 def: "Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective)." [pmid:19125428] comment: The width of the mouth varies with facial movement and must be assessed when the subject has a relaxed (neutral) face. This term replaces macrostomia, large mouth, and large oral aperture because these terms imply a wide and open mouth. The term should not be used to describe a patient with a lateral oral cleft. synonym: "Broad mouth" EXACT [] synonym: "Large mouth" EXACT [] synonym: "Macrostomia" EXACT [] xref: MeSH:D008265 "Macrostomia" xref: UMLS:C1837534 "Wide mouth" is_a: HP:0011337 ! Abnormality of mouth size [Term] id: HP:0000155 name: Oral ulcer def: "Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue." [HPO:probinson] xref: MeSH:D019226 "Oral Ulcer" xref: UMLS:C0149745 "Oral Ulcers" is_a: HP:0011830 ! Abnormality of oral mucosa [Term] id: HP:0000156 name: High-arched palate 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:C0240635 "High arched palate" is_a: HP:0000189 ! Narrow palate is_a: HP:0000218 ! High palate [Term] id: HP:0000157 name: Abnormality of the tongue def: "Any abnormality of the `tongue` (FMA:54640)." [HPO:probinson] synonym: "Tongue abnormality" EXACT [] xref: UMLS:C0878638 "Tongue abnormality" is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000158 name: Macroglossia alt_id: HP:0000203 def: "Increased length and width of the tongue." [pmid:19125428] comment: Normal standards do not exist. Large size usually leads to protrusion of the tongue. This is an acknowledged bundled term, but due to its frequent usage and relative paucity of situations that would call for separate individual assessments of tongue dimensions, the bundled term is retained. Micrognathia may give the false appearance of a large tongue. synonym: "Hyperplasia of the tongue" EXACT [] synonym: "Hypertrophy of the tongue" EXACT [] synonym: "Large tongue" EXACT [] synonym: "Tongue hypertrophy" EXACT [] xref: MeSH:D008260 "Macroglossia" xref: UMLS:C0009677 "Macroglossia" is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0003712 ! Muscle hypertrophy [Term] id: HP:0000159 name: Abnormality of the lip def: "An abnormality of the `lip` (FMA:59815)." [HPO:probinson] synonym: "Lip abnormality" EXACT [] xref: UMLS:C2183966 "lip abnormalities" is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000160 name: Narrow mouth alt_id: HP:0002261 alt_id: HP:0009095 alt_id: HP:0009096 def: "Distance between the commissures of the `mouth` (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: MeSH:D008865 "Microstomia" xref: UMLS:C0026034 "Microstomia" xref: UMLS:C1837735 "Small mouth" is_a: HP:0011337 ! Abnormality of mouth size [Term] id: HP:0000161 name: Median cleft lip def: "A type of `cleft lip` (HP:0000204) presenting as a midline (median) gap in the upper lip." [HPO:probinson] synonym: "Midline cleft lip" EXACT [] xref: UMLS:C1850256 "Median cleft lip" is_a: HP:0000204 ! Cleft upper lip [Term] id: HP:0000162 name: Glossoptosis def: "Posterior displacement of the tongue into the pharynx, i.e., a `tongue` (FMA:54640) that is `mislocalised posteriorly` (PATO:0001922)." [HPO:probinson, pmid:19125428] comment: Presumably, use of the suffix ptosis refers to the situation where the patient is supine, and the displacement is downward. Strictly speaking, the term glossoptosis indicates falling of the tongue and thus can also be forward displacement; however by convention it is only used for backward displacement. Glossoptosis may cause obstruction of the airway. xref: UMLS:C0267048 "Glossoptosis" is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000163 name: Abnormality of the oral cavity def: "Abnormality of the `oral cavity` (FMA:20292), i.e., the opening or hollow part of the mouth." [HPO:curators] is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000164 name: Abnormality of the teeth alt_id: HP:0001567 alt_id: HP:0006296 alt_id: HP:0006348 def: "Any abnormality of the `teeth` (FMA:12516)." [HPO:ibailleulforestier] comment: Any abnormality of the primary (deciduous) or permanent teeth. synonym: "Abnormal dentition" EXACT [] synonym: "Abnormal teeth" EXACT [] synonym: "Dental abnormalities" EXACT [] synonym: "Dental abnormality" EXACT [] synonym: "Dental anomalies" EXACT [] synonym: "Tooth abnormalities" RELATED [] xref: UMLS:C0262444 "Dental abnormalities" is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000166 name: Severe periodontitis def: "A `severe` (PATO:0000396) form of `periodontitis` (HP:0000165)." [HPO:probinson] is_a: HP:0000704 ! Periodontitis [Term] id: HP:0000168 name: Abnormality of the gingiva def: "Any abnormality of the `gingiva` (FMA:59762) (also known as gums)." [HPO:probinson] comment: The gingiva consists of the mucosal tissue that lies over the alveolar bone and around the base of the teeth. synonym: "Gingival abnormality" EXACT [] xref: UMLS:C0017563 "Gingival disorder" is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000169 name: Gingival fibromatosis 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: MeSH:D005351 "Fibromatosis, Gingival" xref: UMLS:C0016049 "Fibromatosis, Gingival" is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0010614 ! Fibroma [Term] id: HP:0000171 name: Microglossia alt_id: HP:0000226 alt_id: HP:0009079 def: "Decreased length and width of the `tongue` (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 "Microglossia" is_a: HP:0010295 ! Aplasia/Hypoplasia of the tongue [Term] id: HP:0000172 name: Abnormality of the uvula def: "Abnormality of the `uvula` (FMA:55022), the conic projection from the posterior edge of the middle of the soft palate." [HPO:probinson] is_a: HP:0100736 ! Abnormality of the soft palate [Term] id: HP:0000174 name: Abnormality of the palate def: "Any abnormality of the `palate` (FMA:54549), i.e., of roof of the mouth)." [HPO:probinson] is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000175 name: Cleft palate def: "Cleft palate is a developmental defect of the `palate` (FMA:54549) resulting from a failure of fusion of the palatine processes and manifesting as a spearation of the roof of the mouth (soft and hard palate)." [HPO:probinson] comment: Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate. xref: MeSH:D002972 "Cleft palate" xref: UMLS:C2240378 "cleft palate" is_a: HP:0000202 ! Oral cleft is_a: HP:0100737 ! Abnormality of the hard palate [Term] id: HP:0000176 name: Submucous cleft hard palate alt_id: HP:0000208 alt_id: HP:0002746 alt_id: HP:0009091 def: "Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate." [HPO:curators, pmid:19779505] synonym: "Submucosal cleft palate" EXACT [] synonym: "Submucous clefting" RELATED [] xref: UMLS:C0432090 "Cleft hard palate NOS" xref: UMLS:C0432103 "Submucous cleft palate" xref: UMLS:C1845577 "Submucous clefting" is_a: HP:0000175 ! Cleft palate is_a: HP:0100737 ! Abnormality of the hard palate [Term] id: HP:0000177 name: Abnormality of upper lip def: "An abnormality of the `upper lip` (FMA:59817)." [HPO:probinson] is_a: HP:0000159 ! Abnormality of the lip [Term] id: HP:0000178 name: Abnormality of lower lip def: "An abnormality of the `lower lip` (FMA:59818)." [HPO:probinson] is_a: HP:0000159 ! Abnormality of the lip [Term] id: HP:0000179 name: Thick lower lip vermilion alt_id: HP:0000170 def: "Increased thickness of the lower lip, leading to a prominent appearance of the lower lip. The height of the vermilion of the lower lip in the midline is more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the lower lip in the frontal view (subjective)." [HPO:curators, pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981] but measurements are not commonly used. Most clinicians determine this feature subjectively. The lower lip is typically thicker than the upper one. The height of the vermilion of the lower lip varies among ethnic groups, and the vermilion should\nbe compared to a population of same ethnic background. When the vermilion is thick, it is more convex and more everted than usual on profile view, but that should be assessed separately. synonym: "Full lips" RELATED [] synonym: "Full lower lip" RELATED [] synonym: "Prominent lower lip" EXACT [] synonym: "Thick lips" RELATED [] synonym: "Thick lower lip" RELATED [] xref: UMLS:C1836543 "Thick lips" xref: UMLS:C1839739 "Prominent lower lip" is_a: HP:0000178 ! Abnormality of lower lip [Term] id: HP:0000180 name: Lobulated tongue def: "Multiple indentations and/or elevations on the edge and/or surface of the tongue producing an irregular surface contour." [pmid:19125428] comment: Lobulated tongue can bilobed, trilobed, or show multiple lobes. synonym: "Lobulate tongue" EXACT [] xref: UMLS:C0431564 "Lobulated tongue" is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000182 name: Movement abnormality of the tongue is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000183 name: Difficulty in tongue movements is_a: HP:0000182 ! Movement abnormality of the tongue [Term] id: HP:0000185 name: Cleft soft palate def: "Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency." [HPO:curators] xref: UMLS:C0432098 "Cleft soft palate NOS" is_a: HP:0000202 ! Oral cleft is_a: HP:0100736 ! Abnormality of the soft palate [Term] id: HP:0000187 name: Broad alveolar ridges synonym: "Broad alveolar margins" EXACT [] synonym: "Widened alveolar ridges" EXACT [] xref: UMLS:C1857948 "Broad alveolar ridges" is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0000188 name: Short upper lip def: "`Decreased width` (PATO:0000599) of the `upper lip` (FMA:59817)." [HPO:probinson] xref: UMLS:C1848977 "Short upper lip" is_a: HP:0000177 ! Abnormality of upper lip [Term] id: HP:0000189 name: Narrow palate def: "Width of the palate more than 2 SD below the mean (objective) or apparently decreased palatal width (subjective)." [pmid:19125428] comment: Palatal width is measured as the distance between the maxillary first permanent molar on the right and left sides, at the lingual cervical line, using a specific device. Palate width is typically assessed subjectively in routine clinical practice. Narrowing is often associated with a High palate, but this should be assessed and coded separately. Gingival overgrowth can give the impression of a narrow palate but should be distinguished and coded separately. The term gothic palate is used to indicate that the roof of the palate is not round but rather has an inverted V-shape, and therefore, only the upper part of the palate is narrow. xref: UMLS:C1398312 "Narrow palate" is_a: HP:0000174 ! Abnormality of the palate [Term] id: HP:0000190 name: Abnormality of oral frenula def: "An abnormality of the `lingual frenulum` (FMA:59820), that is of the small fold of mucous membrane that attaches the tongue to the floor of the mouth, or the presence of accessory frenula in the oral cavity." [HPO:probinson] is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000191 name: Accessory oral frenulum def: "Extra fold of tissue extending from the alveolar ridge to the inner surface of the upper or lower lip." [pmid:19125428] comment: This finding is assessed by gently retracting the oral mucosa from the alveolar ridge. Typically there is a single maxillary and a single mandibular frenulum located in the midline between the two central incisors. Abnormalities of the alveolar ridges may accompany accessory frenula, but these should be assessed separately. synonym: "Extra oral frenulum" EXACT [] synonym: "Supernumerary oral frenulum" EXACT [] xref: UMLS:C1850258 "Oral frenula" is_a: HP:0000190 ! Abnormality of oral frenula [Term] id: HP:0000193 name: Bifid uvula alt_id: HP:0000173 def: "`Uvula` (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 "Bifid uvula" is_a: HP:0000172 ! Abnormality of the uvula [Term] id: HP:0000194 name: Open mouth xref: UMLS:C0240379 "Open mouth" is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000196 name: Lower lip pit def: "Depression located on the `vermilion of the lower lip` (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 "Lower lip pits" is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0100269 ! Paramedian lip pit [Term] id: HP:0000197 name: Abnormality of parotid gland def: "Any abnormality of the parotid glands, which are the salivary glands that are located in the subcutaneous tissues of the face overlying the mandibular ramus and anterior and inferior to the external ear." [HPO:curators] is_a: HP:0010286 ! Abnormality of the salivary glands [Term] id: HP:0000198 name: Absence of Stensen duct synonym: "Absent stensen duct" EXACT [] xref: UMLS:C1835603 "Absent Stensen duct" is_a: HP:0000197 ! Abnormality of parotid gland [Term] id: HP:0000199 name: Tongue nodules xref: UMLS:C0241438 "Tongue nodules" is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000200 name: Short lingual frenulum def: "The presence of an abnormally short `lingual frenulum` (FMA:59820)." [HPO:probinson] synonym: "Short tongue frenulum" EXACT [] xref: UMLS:C1849949 "Short lingual frenulum" is_a: HP:0000190 ! Abnormality of oral frenula [Term] id: HP:0000201 name: Pierre-Robin sequence def: "Pierre Robin malformation is a sequence of developmental malformations characterized by `micrognathia (mandibular hypoplasia)` (HP:0000347), `glossoptosis` (HP:0000162) and `cleft palate` (HP:0000175)." [HPO:probinson] synonym: "Pierre Robin sequence" EXACT [] synonym: "Robin sequence" EXACT [] xref: MeSH:D010855 "Pierre Robin Syndrome" xref: UMLS:C0031900 "Pierre Robin sequence" is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000202 name: Oral cleft def: "The presence of a cleft in the oral cavity, the two main types of which are cleft lip and cleft palate. In cleft lip, there is the congenital failure of the maxillary and median nasal processes to fuse, forming a groove or fissure in the lip. In cleft palate, there is a congenital failure of the palate to fuse properly, forming a grooved depression or fissure in the roof of the mouth. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately." [HPO:probinson] synonym: "Cleft lip, cleft palate" NARROW [] synonym: "Cleft lip/palate" RELATED [] synonym: "Oral clefting" EXACT [] is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000204 name: Cleft upper lip def: "A gap in the `upper lip` (FMA:59817). This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development." [HPO:probinson] synonym: "Cleft lip" RELATED [] synonym: "Cleft of upper lip" RELATED [] xref: MeSH:D002971 "Cleft lip" xref: UMLS:C0008924 "Cleft Lip" is_a: HP:0000177 ! Abnormality of upper lip is_a: HP:0000202 ! Oral cleft [Term] id: HP:0000205 name: Pursed lips def: "An abnormality of the appearance of the face caused by constant contraction of the lips leading to a puckered or pursed appearance." [HPO:probinson] xref: UMLS:C1832130 "Pursed lips" is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000206 name: Glossitis def: "Inflammation of the tongue." [HPO:sdoelken] xref: MeSH:D005928 "Glossitis" xref: UMLS:C0017675 "Glossitis" is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000207 name: Triangular mouth def: "The presence of a `triangular` (PATO:0001875) form of the `mouth` (FMA:49184)." [HPO:probinson] synonym: "Triangular shaped mouth" EXACT [] xref: UMLS:C1849341 "Triangular mouth" is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0000211 name: Trismus def: "Limitation in the ability to open the mouth." [HPO:curators] xref: MeSH:D014313 "Trismus" xref: UMLS:C0041105 "Trismus" is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0000212 name: Gingival overgrowth alt_id: HP:0000195 def: "`Hyperplasia` (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: MeSH:D019214 "Gingival Overgrowth" xref: UMLS:C0017566 "Gingival Hyperplasia" is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0000213 name: Thin lips def: "`Decreased thickness` (PATO:0000592) of the `lips` (FMA:59815)." [HPO:probinson] xref: UMLS:C0578038 "Thin lips" is_a: HP:0000159 ! Abnormality of the lip [Term] id: HP:0000214 name: Lip telangiectasia def: "`Telangiectasia` (MPATH:476) (that is, the presence of small dilated superficial blood vessels) of the `lips` (FMA:59815)." [HPO:probinson] synonym: "Lip telangiectases" EXACT [] synonym: "TELANGIECTASIA OF THE LIPS" EXACT [HPO:skoehler] xref: UMLS:C1857697 "Lip telangiectases" is_a: HP:0000159 ! Abnormality of the lip is_a: HP:0000228 ! Oral cavity teleangiectasia [Term] id: HP:0000215 name: Thick upper lip vermilion alt_id: HP:0000231 def: "Height of the vermilion of the upper lip in the midline more than 2 SD above the mean. Alternatively, an apparently increased height of the vermilion of the upper lip in the frontal view (subjective)." [pmid:19125428] comment: Normal values for the height of the vermilion are available [Farkas, 1981], but measurements are not commonly used. Most clinicians determine this feature subjectively or utilize the Likert scale of Astley and Clarren [2000] (Fig. 17). The vermilion of the upper lip varies considerably among ethnic groups, and the vermilion should be compared to a population of same ethnic background. The thickness of the upper lip vermilion is sensitive to the facial expression. On profile view, a thick vermilion is more convex than usual. synonym: "Full lips" RELATED [] synonym: "Prominent upper lip" EXACT [] synonym: "Thick upper lip" EXACT [HPO:sdoelken] synonym: "Thick vermilion border of upper lip" EXACT [] xref: UMLS:C1846423 "Prominent upper lip" is_a: HP:0011339 ! Abnormality of upper lip vermillion [Term] id: HP:0000216 name: Broad secondary alveolar ridge synonym: "Secondary alveolar ridges" EXACT [] xref: UMLS:C1839276 "Broad secondary alveolar ridge" is_a: HP:0000187 ! Broad alveolar ridges [Term] id: HP:0000217 name: Xerostomia alt_id: HP:0002709 alt_id: HP:0100756 def: "Dryness of the mouth due to salivary gland dysfunction." [HPO:probinson] synonym: "Dry mouth" EXACT [] synonym: "Reduced salivation" EXACT [] xref: MeSH:D014987 "Xerostomia" xref: UMLS:C0043352 "Xerostomia" is_a: HP:0100755 ! Abnormality of salivation [Term] id: HP:0000218 name: High palate 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:C1398297 "High palate" is_a: HP:0000174 ! Abnormality of the palate [Term] id: HP:0000219 name: Thin upper lip vermilion 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 "Thin upper lip" is_a: HP:0000213 ! Thin lips is_a: HP:0011339 ! Abnormality of upper lip vermillion [Term] id: HP:0000220 name: Velopharyngeal insufficiency def: "Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech." [DDD:jhurst] synonym: "Velopharyngeal incompetence" EXACT [] xref: MeSH:D014681 "Velopharyngeal Insufficiency" xref: UMLS:C0042454 "Velopharyngeal Incompetence" is_a: HP:0100736 ! Abnormality of the soft palate [Term] id: HP:0000221 name: Furrowed tongue def: "Accentuation of the grooves on the dorsal surface of the tongue." [pmid:19125428] comment: Usually there is a midline groove of the tongue with smaller radiating grooves. The deep furrows may extend to the lateral borders. They may follow a regular geometric pattern or be irregular. A furrowed tongue occurs in 10-25% of individuals but is rare in children. synonym: "Prominent tongue grooves" EXACT [] synonym: "Scrotal tongue" EXACT [] xref: MeSH:D014063 "Tongue, Fissured" xref: UMLS:C0040412 "Tongue, Furrowed" is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000222 name: Gingival hyperkeratosis alt_id: HP:0007539 def: "`Hyperkeratosis` (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:C1857013 "Gingival hyperkeratosis" is_a: HP:0000168 ! Abnormality of the gingiva is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0000223 name: Abnormality of taste sensation is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0000224 name: Decreased taste sensation synonym: "Decreased taste" EXACT [] xref: UMLS:C1837498 "Decreased taste sensation" is_a: HP:0000223 ! Abnormality of taste sensation [Term] id: HP:0000225 name: Gingival bleeding alt_id: HP:0000167 def: "`Hemorrhage` (MPATH:119) affecting the `gingiva` (FMA:59762)." [HPO:ibailleulforestier] synonym: "Oral bleeding" EXACT [] xref: UMLS:C0017565 "Gingival bleeding" xref: UMLS:C0029163 "Oral bleeding" is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0000227 name: Tongue telangiectasia def: "`Telangiectasia` (MPATH:476) (that is, the presence of small dilated superficial blood vessels) of the tongue." [HPO:probinson] xref: UMLS:C1857698 "Tongue telangiectases" is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0000228 ! Oral cavity teleangiectasia [Term] id: HP:0000228 name: Oral cavity teleangiectasia def: "Presence of teleangiectases in the oral cavity." [HPO:probinson] is_a: HP:0011830 ! Abnormality of oral mucosa is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000230 name: Gingivitis def: "`Inflammation` (MPATH:212) of the `gingiva` (FMA:59762)." [HPO:probinson] xref: MeSH:D005891 "Gingivitis" xref: UMLS:C0017574 "Gingivitis" is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0000232 name: Everted lower lip vermilion alt_id: HP:0000184 alt_id: HP:0002264 alt_id: HP:0002712 alt_id: HP:0004665 alt_id: HP:0009086 alt_id: HP:0009093 def: "An abnormal configuration of the `lower lip` (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: "Eclabion" EXACT [] synonym: "Eclabium" RELATED [] synonym: "Everted lower lip" EXACT [] synonym: "Everted prominent lower lip" EXACT [] synonym: "Prominent lips" RELATED [] synonym: "Protruding lower lip" RELATED [] xref: UMLS:C1848738 "Eclabion" xref: UMLS:C1863874 "Prominent lips" xref: UMLS:C1866234 "Protruding lower lip" is_a: HP:0000178 ! Abnormality of lower lip [Term] id: HP:0000233 name: Thin vermilion border comment: The vermilion is the red part of the lips, and the vermilion border is the rim of paler skin that demarcates the vermilion from the rest of the skin of the face. synonym: "Thin vermillion" EXACT [] xref: UMLS:C1849947 "Thin vermillion border" is_a: HP:0000159 ! Abnormality of the lip [Term] id: HP:0000234 name: Abnormality of the head def: "An abnormality of the `head` (FMA:7154)." [HPO:probinson] synonym: "Head abnormality" EXACT [] is_a: HP:0000152 ! Abnormality of head and neck [Term] id: HP:0000235 name: Abnormality of the fontanelles and cranial sutures def: "Any abnormality of the fontanelles (the regions covered by a thick membrane that normally ossify in the first two years of life) or the cranial sutures (the fibrous joints in which the articulating bones or cartilages of the skull are connected by sutural ligaments )." [HPO:probinson] is_a: HP:0002683 ! Abnormality of the calvaria [Term] id: HP:0000236 name: Abnormality of the anterior fontanelle def: "An abnormality of the anterior fontanelle, i.e., the cranial fontanelle that is located at the intersection of the coronal and sagittal sutures." [HPO:curators] is_a: HP:0011328 ! Abnormality of fontanelles [Term] id: HP:0000237 name: Small anterior fontanelle def: "Abnormally decreased size of the `anterior fontanelle` (FMA:75439) with respect to age-dependent norms." [HPO:probinson] synonym: "Small anterior fontanel" EXACT [] xref: UMLS:C1859455 "Small anterior fontanel" is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0000238 name: Hydrocephalus alt_id: HP:0007189 alt_id: HP:0008503 def: "Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation." [HPO:probinson, pmid:18211712, pmid:19410151] comment: Hydrocephalus results from an imbalance between the rate of production of cerebrospinal fluid (CSF), mainly in the choroid plexus, and its reabsorption in the subarchnoid space over brain and spinal cord. synonym: "Hydrocephaly" EXACT [] synonym: "Nonsyndromal hydrocephalus" EXACT [] xref: MeSH:D006849 "Hydrocephalus" xref: UMLS:C0020255 "Hydrocephalus" is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0000239 name: Large fontanelles alt_id: HP:0004473 def: "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:probinson] comment: There are six membrane-covered openings between the cranial sutures in the incompletely ossified skull of the fetus or newborn infant that normally close sometime after birth (anterior fontanel, cranial fontanel, mastoid fontanel, posterior fontanel, sphenoidal fontanel). synonym: "Enlarged fontanelles" EXACT [] synonym: "Large fontanel" EXACT [] synonym: "Large fontanelle" EXACT [] synonym: "Large fontanels" EXACT [] synonym: "Large, late-closing fontanelle" EXACT [] synonym: "Wide fontanelles" EXACT [] xref: UMLS:C0456132 "Wide fontanelle" is_a: HP:0011328 ! Abnormality of fontanelles [Term] id: HP:0000240 name: Abnormality of skull size def: "Any abnormality of the size of the skull." [HPO:curators] is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0000242 name: Parietal bossing alt_id: HP:0004641 def: "Parietal bossing is a marked prominence in the parietal region." [HPO:probinson] synonym: "Biparietal bossing" EXACT [] synonym: "Bossing of parietal bone" EXACT [] xref: UMLS:C1856227 "Parietal bossing" is_a: HP:0002696 ! Abnormality of the parietal bone [Term] id: HP:0000243 name: Trigonocephaly def: "Wedge-shaped, or triangular head, with the apex of the triangle at the midline of the forehead and the base of the triangle at the occiput." [pmid:19125436] comment: This shape should be assessed from above, with the examiner looking down on the head of the patient. Trigonocephaly can be caused by premature fusion of the metopic suture. xref: UMLS:C0265535 "Trigonocephaly" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0000244 name: Brachyturricephaly synonym: "Turribrachycephaly" EXACT [] xref: UMLS:C1843494 "Brachyturricephaly" is_a: HP:0000248 ! Brachycephaly is_a: HP:0000262 ! Turricephaly [Term] id: HP:0000245 name: Abnormality of the sinuses def: "Abnormality of the paranasal (cranial) sinuses, which are air-filled spaces that are located within the bones of the skull and face and communicate with the nasal cavity. They comprise the maxillary sinuses, the frontal sinuses, the ethmoid sinuses, and the sphenoid sinuses." [HPO:curators] is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0000246 name: Sinusitis def: "Inflammation of the `paranasal sinuses` (FMA:59679) owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction." [HPO:probinson] xref: MeSH:D012852 "Sinusitis" xref: UMLS:C0037199 "Sinusitis" is_a: HP:0000245 ! Abnormality of the sinuses [Term] id: HP:0000248 name: Brachycephaly alt_id: HP:0002258 alt_id: HP:0004479 alt_id: HP:0008512 def: "An `abnormality of skull shape` (HP:0002648) characterized by a `decreased anterior-posterior diameter` (PATO:0002042). That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width." [HPO:probinson, pmid:19125436] comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms also have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Brachycephaly is distinct from Flat occiput, but both can be present in the same individual and should be coded separately. xref: UMLS:C0221356 "Brachycephaly" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0000250 name: Dense calvaria def: "An abnormal increase of density of the bones making up the calvaria." [HPO:curators] xref: UMLS:C1854834 "Dense calvaria" is_a: HP:0002683 ! Abnormality of the calvaria is_a: HP:0004330 ! Increased skull ossification [Term] id: HP:0000252 name: Microcephaly alt_id: HP:0001366 alt_id: HP:0005485 alt_id: HP:0005489 alt_id: HP:0005497 def: "Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the `cranium` (FMA:46565)." [pmid:19125436, pmid:9683597] comment: Head circumference is measured from just above the glabella (the most prominent point on the frontal bone above the root of the nose) to the most posterior prominent point of the occipital bone using a tape measure. Some standard charts are organized by centiles [Hall et al. [2007]], others by standard deviations [Farkas, [1981]]. It is important to add an indication of how far below the normal standard the head circumference is if an accurate assessment of this can be made. Microcephaly is an absolute term. The term relative microcephaly can be used when the head size centile is less than the centile for height, for example, head size at the 3rd centile with height at the 75% for age and sex. On prenatal ultrasound, microcephaly is diagnosed if the head circumference or the biparietal diameter is more than three standard deviations below the mean. synonym: "Decreased head circumference" EXACT [] synonym: "Reduced head circumference" EXACT [] synonym: "Small head circumference" EXACT [] xref: MeSH:D008831 "Microcephaly" xref: UMLS:C0025958 "Microcephaly" is_a: HP:0000240 ! Abnormality of skull size is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0000253 name: Progressive microcephaly def: "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:probinson] synonym: "Microcephaly, postnatal, progressive" EXACT [] synonym: "Microcephaly, progressive" EXACT [HPO:skoehler] is_a: HP:0000252 ! Microcephaly [Term] id: HP:0000255 name: Acute sinusitis def: "An `acute` (PATO:0000389) form of `sinusitis` (HP:0000246)." [HPO:probinson] xref: UMLS:C0149512 "Acute sinusitis NOS" is_a: HP:0000246 ! Sinusitis [Term] id: HP:0000256 name: Macrocephaly alt_id: HP:0005491 alt_id: HP:0005496 def: "Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the `cranium` (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: MeSH:D058627 "Macrocephaly" xref: UMLS:C0221355 "Macrocephaly" is_a: HP:0000240 ! Abnormality of skull size [Term] id: HP:0000260 name: Wide anterior fontanel def: "Enlargement of the `anterior fontanelle` (FMA:75439) 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:C1866134 "Wide anterior fontanel" is_a: HP:0000236 ! Abnormality of the anterior fontanelle is_a: HP:0000239 ! Large fontanelles [Term] id: HP:0000262 name: Turricephaly alt_id: HP:0001356 def: "Tall head relative to width and length." [pmid:19125436] comment: Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull. This feature may have previously been considered to overlap with or include a tall forehead. Turricephaly is present when the head appears tall (subjective) and head length and width are reduced compared to normal age-related standards (objective). Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. The term acrocephaly (or oxycephaly) is used when there is turricephaly and the top of the skull assumes a cone shape. xref: UMLS:C0030044 "Acrocephaly" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0000263 name: Oxycephaly def: "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull." [HPO:curators] synonym: "Acrocephaly" RELATED [] xref: UMLS:C0030044 "Acrocephaly" is_a: HP:0000262 ! Turricephaly [Term] id: HP:0000264 name: Abnormality of the mastoid def: "An abnormality of the `mastoid process` (FMA:52872), which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone." [HPO:curators] is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0000265 name: Mastoiditis xref: MeSH:D008417 "Mastoiditis" xref: UMLS:C0024904 "Mastoiditis" is_a: HP:0000264 ! Abnormality of the mastoid [Term] id: HP:0000267 name: Cranial asymmetry def: "Asymmetry of the bones of the skull." [HPO:curators] xref: UMLS:C1860245 "Cranial asymmetry" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0000268 name: Dolichocephaly alt_id: HP:0000258 alt_id: HP:0005440 def: "An `abnormality of skull shape` (HP:0002648) characterized by a `increased anterior-posterior diameter` (PATO:0002043), i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture." [HPO:probinson, pmid:19125436] comment: Cephalic index is the ratio of head width expressed as a percentage of head length. The normal range is 76-80.9%. Head length is measured between the glabella (the most prominent point on the frontal bone above the root of the nose) and the most prominent part of the occiput in the midline, using spreading calipers. Head width is measured between the most lateral points of the parietal bones on each side of the head, using spreading calipers. Cephalic index standards are derived from Caucasians and have limited relevance for other races and ethnicities. Current norms have limited validity because of changes in infant sleeping position and consequent changes in head shape. New data should be developed. Dolichocephaly is distinct from Prominent occiput, but both can be present in the same individual and should be coded separately. Scaphocephaly is a subtype of dolichocephaly where the anterior and posterior aspects of the cranial vault are pointed (boat-shaped). synonym: "Large dolichocephalic skull" EXACT [] synonym: "Scaphocephaly" EXACT [] synonym: "Turridolichocephaly" EXACT [] xref: UMLS:C0221358 "Dolichocephaly" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0000269 name: Prominent occiput alt_id: HP:0004489 def: "Increased convexity of the `occiput` (FMA:49187) (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 "Prominent occiput" is_a: HP:0011217 ! Abnormal shape of the occiput [Term] id: HP:0000270 name: Delayed cranial suture closure alt_id: HP:0002704 alt_id: HP:0003794 def: "Infants normally have two fontanels at birth, the diamond-shaped anterior fontanelle at the junction of the coronal and sagittal sutures, and the posterior fontanelle at the intersection of the occipital and parietal bones. The posterior fontanelle usually closes by the 8th week of life, and the anterior fontanel closes by the 18th month of life on average. This term applies if there is delay of closure of the fontanelles beyond the normal age." [HPO:probinson] synonym: "Broad late closing cranial sutures" EXACT [] synonym: "Delayed closure of fontanel" EXACT [] synonym: "Delayed closure of fontanelles" EXACT [] synonym: "Delayed closure of the fontanelles" EXACT [] synonym: "Delayed fontanel closure" EXACT [] synonym: "Delayed fontanelle closure" EXACT [] synonym: "Late closing fontanelles" EXACT [] synonym: "Late closure of fontanelle" EXACT [] synonym: "Late-closing fontanelle" EXACT [] synonym: "Open sutures" EXACT [] xref: UMLS:C1096211 "Delayed fontanel closure" xref: UMLS:C1970468 "Open sutures" is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0000271 name: Abnormality of the face def: "An abnormality of the `face` (FMA:24728)." [HPO:probinson] is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0000272 name: Malar flattening alt_id: HP:0000312 alt_id: HP:0000332 alt_id: HP:0004642 alt_id: HP:0004658 alt_id: HP:0004671 alt_id: HP:0005319 alt_id: HP:0005443 alt_id: HP:0005455 alt_id: HP:0100846 def: "Underdevelopment of the malar (frontal) process of the maxilla, appreciated in profile and/or by palpation." [HPO:probinson, pmid:19125436] comment: The malar process is the most medial and superior portion of the maxilla, contiguous with the lateral boundary of the nasal bridge. The term malar hypoplasia is no longer preferred because surface examination cannot distinguish hypoplasia from hypotrophy. synonym: "Depressed malar region" EXACT [] synonym: "Flat midface" EXACT [] synonym: "Malar hypoplasia" EXACT [] synonym: "Mid-face hypoplasia" EXACT [] synonym: "Midface hypoplasia" EXACT [] xref: UMLS:C1836641 "Malar hypoplasia" is_a: HP:0000309 ! Abnormality of the midface is_a: HP:0001999 ! Abnormal facial shape is_a: HP:0005557 ! Abnormality of the zygomatic arch [Term] id: HP:0000273 name: Facial grimacing xref: UMLS:C0234853 "Facial grimacing" is_a: HP:0005324 ! Disturbance of facial expression [Term] id: HP:0000274 name: Small face def: "A face that is short (HP:0011219) and narrow (HP:0000275)." [HP:probinson] comment: This term represents a combination of two terms, short face and narrow face. synonym: "Small facies" EXACT [] xref: UMLS:C1855538 "Small face" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000275 name: Narrow face alt_id: HP:0000318 def: "Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective)." [pmid:19125436] comment: Objective measurement of the upper facial width is made with spreading calipers. The tips of the calipers are passed over the zygomatic arches until the maximum width is determined. Objective measurement of the lower faces is made with spreading calipers, with the tips firmly pressed against the inferomedial surface of the angle of the mandible. synonym: "Narrow facies" EXACT [] synonym: "Thin face" RELATED [] xref: UMLS:C1837463 "Narrow face" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000276 name: Long face alt_id: HP:0000334 def: "Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective)." [pmid:19125436] comment: Objective measurement of the face height is made with sliding calipers from the nasion, just above the depth of the nasal root, to the gnathion, the inferior border of the mandible, both in the midline. Note that long face is distinct from narrow face. xref: UMLS:C1836047 "Long face" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000277 name: Abnormality of the mandible alt_id: HP:0000209 def: "Any abnormality of the `mandible` (FMA:52748), the bone of the lower jaw." [HPO:probinson] is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0000278 name: Retrognathia alt_id: HP:0002053 alt_id: HP:0002954 def: "An abnormality in which the `mandible` (FMA:52748) is `mislocalised posteriorly` (PATO:0001922)." [HPO:probinson] synonym: "Receding chin" EXACT [] synonym: "Receding mandible" EXACT [] xref: UMLS:C0035353 "Retrognathia" xref: UMLS:C1850067 "Receding chin" is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0000280 name: Coarse facial features alt_id: HP:0000281 alt_id: HP:0004640 def: "Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues." [pmid:19125436] synonym: "Coarse face" EXACT [] synonym: "Coarse facies" EXACT [] xref: UMLS:C1854600 "Coarse facial features" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000282 name: Facial edema xref: UMLS:C0542571 "Facial edema" is_a: HP:0000969 ! Edema is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000283 name: Broad face def: "Bizygomatic (upper face) and bigonial (lower face) width greater than 2 standard deviations above the mean (objective); or an apparent increase in the width of the face (subjective)." [pmid:19125436] comment: Note that broad face is distinct from round face. xref: UMLS:C1859680 "Broad face" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000284 name: Abnormality of the ocular region is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000286 name: Epicanthus alt_id: HP:0000624 def: "A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus." [HPO:curators] comment: In extreme cases, the skin fold can start as high as the eyebrow; this is called epicanthus superciliaris. synonym: "Epicanthal fold" EXACT [] synonym: "Epicanthal folds" EXACT [] synonym: "Epicanthic folds" EXACT [] synonym: "Epicanthus palpebralis" EXACT [] xref: UMLS:C0678230 "Epicanthus" is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000287 name: Increased facial adipose tissue def: "An increased amount of subcutaneous fat tissue in the face." [HPO:probinson] is_a: HP:0000291 ! Abnormality of facial adipose tissue [Term] id: HP:0000288 name: Abnormality of the philtrum alt_id: HP:0011216 def: "An abnormality of the `philtrum` (FMA:59819)." [HPO:probinson] comment: The paralabial region is the region surrounding the lips and includes the philtrum. synonym: "Abnormal philtrum" EXACT [] synonym: "Abnormality of the paralabial region" EXACT [] xref: UMLS:C1857045 "Abnormal philtrum" is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000289 name: Broad philtrum def: "Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum." [pmid:19152422] comment: The mean width of the philtrum was found to be 7 mm in infants by Franz and Sokol [1971] and 9.7 mm in adults by Ward and Jamison [1991]. Measuring width of the philtrum is even more inaccurate than measuring length (vide supra). A broad philtrum may be associated with reduced ridge prominence or a shallow groove, a Smooth philtrum, which should be assessed and coded separately. It may be found with a broad nasal septum. synonym: "Wide philtrum" EXACT [] xref: UMLS:C1854111 "Wide philtrum" is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000290 name: Abnormality of the forehead is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000291 name: Abnormality of facial adipose tissue is_a: HP:0009124 ! Abnormality of adipose tissue is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000292 name: Loss of facial adipose tissue def: "Loss of normal subcutaneous fat tissue in the face." [HPO:curators] synonym: "Loss of facial subcutaneous adipose tissue" EXACT [] synonym: "Loss of subcutaneous adipose tissue from face" EXACT [] is_a: HP:0000291 ! Abnormality of facial adipose tissue [Term] id: HP:0000293 name: Full cheeks alt_id: HP:0002262 alt_id: HP:0004427 def: "Increased prominence or roundness of soft tissues between zygomata and mandible." [DDD:awilkie] synonym: "Chubby cheeks" RELATED [] synonym: "Puffy cheeks" RELATED [] xref: UMLS:C0007966 "Cheek" xref: UMLS:C1866231 "Full cheeks" is_a: HP:0004426 ! Abnormality of the cheeks [Term] id: HP:0000294 name: Low anterior hairline def: "Distance between the hairline (trichion) and the glabella (the most prominent point on the frontal bone above the root of the nose), in the midline, more than two SD below the mean. Alternatively, an apparently decreased distance between the hairline and the glabella." [pmid:19125436] comment: This feature gives the appearance of a short forehead. It is distinct from hirsutism of the forehead. In the latter, orientation of hair growth is lateral and texture and density of hair differs from scalp hair. synonym: "Low frontal hairline" EXACT [] synonym: "Low-set frontal hairline" EXACT [] xref: UMLS:C1842366 "Low anterior hairline" is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0000295 name: Doll-like facies def: "A characteristic facial appearance with a round facial form, full cheeks, a short nose, and a relatively small chin." [HPO:probinson] comment: This term represents a bundle of phenotypic features and is kept for historical reasons. It is preferable to annotate the individual clinical findings precisely. is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000297 name: Facial hypotonia xref: UMLS:C1845251 "Facial hypotonia" is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0000298 name: Mask-like facies def: "A lack of facial expression often with staring eyes and a slightly open mouth." [HPO:probinson] comment: Mask-like facies can be seen in many neurological disorders such as Parkinsonism and myotonic dystrophy. synonym: "Amimia" EXACT [] synonym: "Expressionless face" EXACT [] synonym: "Masklike facies" EXACT [] xref: UMLS:C0424448 "Mask-like facies" is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0000300 name: Oval face def: "A face with a rounded and slightly elongated outline." [HPO:probinson] xref: UMLS:C1849025 "Oval face" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000301 name: Abnormality of facial musculature is_a: HP:0003011 ! Abnormality of the musculature is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000303 name: Mandibular prognathia alt_id: HP:0000251 alt_id: HP:0000279 alt_id: HP:0000328 alt_id: HP:0002051 alt_id: HP:0004648 alt_id: HP:0004656 alt_id: HP:0008514 def: "Abnormal prominence of the `chin` (FMA:46495) related to `increased length` (PATO:0000573) of the `mandible` (FMA:52748)." [HPO:probinson] synonym: "Enlarged mandible" EXACT [] synonym: "Large mandible" EXACT [] synonym: "Mandible prognathism" EXACT [] synonym: "Mandibular prognathism" EXACT [] synonym: "Prognathia" EXACT [] synonym: "Prognathism" EXACT [] synonym: "Prominent chin" EXACT [] synonym: "Prominent jaw" EXACT [] synonym: "Relative mandibular prognathism" EXACT [] xref: MeSH:D011378 "Prognathism" xref: UMLS:C1839784 "Prominent jaw" xref: UMLS:C1857643 "Mandible prognathism" is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000306 name: Abnormality of the chin def: "An abnormality of the `chin` (FMA:46495), i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw." [HPO:probinson, pmid:19125436] is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000307 name: Pointed chin alt_id: HP:0005330 def: "A marked tapering of the lower face to the chin." [pmid:19125436] comment: The two rami of the mandible meet at an acute angle. synonym: "Small pointed chin" EXACT [] xref: UMLS:C1842873 "Pointed chin" is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000308 name: Microretrognathia def: "A form of `developmental hypoplasia` (MPATH:10060) of the `mandible` (FMA:52748) in which the mandible is `mislocalised posteriorly` (PATO:0001922)." [HPO:probinson] synonym: "Retromicrognathia" EXACT [] xref: UMLS:C1839546 "Microretrognathia" is_a: HP:0000278 ! Retrognathia is_a: HP:0000347 ! Micrognathia [Term] id: HP:0000309 name: Abnormality of the midface is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000311 name: Round face alt_id: HP:0000304 alt_id: HP:0004653 def: "The facial appearance is more circular than usual as viewed from the front." [pmid:19125436] synonym: "Round facial appearance" EXACT [] synonym: "Round facies" EXACT [] synonym: "Round, full face" BROAD [] is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000315 name: Abnormality of the orbital region is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000316 name: Hypertelorism alt_id: HP:0000578 alt_id: HP:0002001 alt_id: HP:0004657 alt_id: HP:0007871 def: "Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes)." [pmid:19125427] synonym: "Increased interpupillary distance" EXACT [] synonym: "Ocular hypertelorism" EXACT [] synonym: "Wide-set eyes" EXACT [] xref: MeSH:D006972 "Hypertelorism" xref: UMLS:C0020534 "Ocular hypertelorism" is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000317 name: Facial myokymia alt_id: HP:0004651 def: "Facial myokymia is a fine fibrillary activity of the facial muscles." [HPO:curators] comment: Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes. xref: UMLS:C0270871 "Facial Myokymia" is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0002411 ! Myokymia [Term] id: HP:0000319 name: Smooth philtrum alt_id: HP:0000299 alt_id: HP:0000323 alt_id: HP:0004663 def: "Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border." [pmid:19152422] comment: There is a spectrum of this finding from total absence of the philtral ridges to a some prominence of the ridges. The central groove varies from absent to shallow. Normal values for the frequency of smooth philtrum are available. Grading of the smoothness of the philtrum, used in the assessment of Fetal Alcohol Syndrome, has been developed. This finding is greatly influenced by the facial expression, and care should be taken to evaluate the philtrum when the face is in a neutral position. A smooth philtrum can be associated with a Long philtrum. However, the two findings should be coded separately. synonym: "Flat philtrum" EXACT [] synonym: "Philtrum, smooth" EXACT [] synonym: "Simple philtrum" EXACT [] xref: UMLS:C1142533 "Flat philtrum" is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000320 name: Bird-like facies xref: UMLS:C1837758 "Bird-like facies" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000321 name: Square face def: "Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance." [pmid:19125436] xref: UMLS:C1832127 "Square face" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000322 name: Short philtrum def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border." [pmid:19152422] xref: UMLS:C1861324 "Short philtrum" is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000324 name: Facial asymmetry alt_id: HP:0003775 def: "An abnormal difference between the left and right sides of the face." [HPO:probinson] synonym: "Asymmetric facies" EXACT [] xref: MeSH:D005146 "Facial Asymmetry" xref: UMLS:C0546952 "Facial asymmetry" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000325 name: Triangular face alt_id: HP:0004645 alt_id: HP:0004662 alt_id: HP:0004668 def: "Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin." [DDD:jclayton-smith, pmid:19125436] synonym: "Triangular facies" EXACT [] xref: UMLS:C1835884 "Triangular face" is_a: HP:0001999 ! Abnormal facial shape [Term] id: HP:0000326 name: Abnormality of the maxilla def: "An abnormality of the `Maxilla` (FMA:9711) (upper jaw bone)." [HPO:probinson] is_a: HP:0000309 ! Abnormality of the midface is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0000327 name: Hypoplasia of the maxilla alt_id: HP:0004644 def: "Underdevelopment of the `Maxilla` (FMA:9711)." [HPO:probinson] synonym: "Hypoplastic maxilla" EXACT [] synonym: "Hypoplastic maxillary bones" EXACT [] synonym: "Maxillar hypoplasia" EXACT [] synonym: "Maxillary hypoplasia" EXACT [] synonym: "Small maxilla" EXACT [] xref: UMLS:C1844602 "Hypoplastic maxilla" is_a: HP:0009117 ! Aplasia/Hypoplasia of the maxilla [Term] id: HP:0000329 name: Facial hemangioma def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face." [HPO:curators] synonym: "Facial hemangiomata" EXACT [] xref: UMLS:C1847881 "Facial hemangioma" is_a: HP:0001028 ! Hemangioma is_a: HP:0011799 ! Abnormality of facial soft tissue [Term] id: HP:0000331 name: Small chin xref: UMLS:C1839323 "Small chin" is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000336 name: Prominent supraorbital ridges def: "Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones." [pmid:19125436] synonym: "Prominent supraorbital ridge" EXACT [] xref: UMLS:C1842060 "Prominent supraorbital ridges" is_a: HP:0100538 ! Abnormality of the supraorbital ridges [Term] id: HP:0000337 name: Broad forehead alt_id: HP:0000352 alt_id: HP:0000354 def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations above the mean (objective); or apparently increased distance between the two sides of the forehead." [pmid:19125436] comment: Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. Note that this term should not be confused with prominent forehead. synonym: "Wide forehead" EXACT [] xref: UMLS:C1855408 "Broad forehead" is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000338 name: Hypomimic face xref: UMLS:C1837824 "Hypomimic face" is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0000339 name: Pugilistic facies def: "Coarse facial features reminiscent of those of a boxer." [HPO:probinson] xref: UMLS:C1846011 "'Pugilistic facies'" is_a: HP:0000280 ! Coarse facial features [Term] id: HP:0000340 name: Sloping forehead alt_id: HP:0000351 alt_id: HP:0004480 alt_id: HP:0008493 alt_id: HP:0008500 def: "Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view." [pmid:19125436] comment: Measurement requires an angle meter, inclined on the anterior surface of the forehead, in the midline, along a line connecting the hairline to the glabella, compared to the vertical. synonym: "Low, sloping forehead" EXACT [] synonym: "Receding forehead" EXACT [] synonym: "Receding, small forehead" EXACT [] synonym: "Sloping, narrow forehead" EXACT [] xref: UMLS:C1857679 "Sloping forehead" is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000341 name: Narrow forehead alt_id: HP:0000314 alt_id: HP:0004674 alt_id: HP:0004677 def: "Width of the forehead or distance between the frontotemporales is more than two standard deviations below the mean (objective); or apparently narrow intertemporal region (subjective)." [pmid:19125436] comment: A reduced distance between the temporal regions (temples) on each side of the head to one another. Frontotemporalis is a point lateral to the vertical component of the supraorbital ridge, where there is a hollowing. Spreading caliper tips are placed in the deepest part of that hollow. synonym: "Bitemporal narrowing" EXACT [] synonym: "Bitemporal narrowness" EXACT [] synonym: "Bitemporal skull narrowing" EXACT [] synonym: "Intertemporal narrowing" EXACT [] synonym: "Narrow bitemporal diameter" EXACT [] synonym: "Temporal narrowness" EXACT [] xref: UMLS:C1839127 "Narrow forehead" is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000343 name: Long philtrum def: "Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border." [pmid:19152422] xref: UMLS:C1865014 "Long philtrum" is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000346 name: Whistling appearance def: "An abnormality of facial morphology characterized by a small mouth opening and constant contraction of the lips as if the patient were whistling." [HPO:probinson, pmid:856233] xref: UMLS:C1848473 "'Whistling' appearance" is_a: HP:0000205 ! Pursed lips [Term] id: HP:0000347 name: Micrognathia alt_id: HP:0000210 alt_id: HP:0000330 alt_id: HP:0000345 alt_id: HP:0002005 alt_id: HP:0002674 alt_id: HP:0004669 alt_id: HP:0005460 alt_id: HP:0005470 def: "`Developmental hypoplasia` (MPATH:10060) of the `mandible` (FMA:52748)." [HPO:probinson] 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: "Mandibular hypoplasia" EXACT [] synonym: "Small jaw" EXACT [] synonym: "Small mandible" EXACT [] xref: UMLS:C0025990 "Micrognathia" is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible [Term] id: HP:0000348 name: High forehead alt_id: HP:0000342 def: "An abnormally increased height of the forehead." [HPO:curators] synonym: "High, protruding forehead" EXACT [] synonym: "High, sloping forehead" EXACT [] xref: UMLS:C0239676 "High forehead" is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000349 name: Widow's peak def: "Frontal hairline with bilateral arcs to a low point in the midline of the forehead." [pmid:19125436] comment: The hair may need to be pulled back to recognize this feature. Historically, English widows in the 18th century wore a black hat, triangular in shape, with a point facing forward in the midline. is_a: HP:0009890 ! High anterior hairline [Term] id: HP:0000350 name: Small forehead def: "The presence of a forehead that is abnormally small." [HPO:curators] xref: UMLS:C1845250 "Small forehead" is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000356 name: Abnormality of the outer ear alt_id: HP:0001752 def: "An abnormality of the `external ear` (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:C1846460 "External ear malformations" is_a: HP:0000598 ! Abnormality of the ear [Term] id: HP:0000357 name: Abnormal location of ears def: "Abnormal location of the `ear` (FMA:52780)." [HPO:probinson] comment: `Mislocalized` (PATO:0000628) `ear` (FMA:52780). is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000358 name: Posteriorly rotated ears alt_id: HP:0008535 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, pmid:19152421] comment: Angle formed by the line perpendicular to the Frankfurt plane and the medial longitudinal axis of the ear (the two most remote points of the ear) greater than two standard deviations above the mean for age. synonym: "Ear, posterior angulation, increased" EXACT [] synonym: "Posteriorly angulated ears" EXACT [] synonym: "Posteriorly rotated" EXACT [] synonym: "Posteriorly rotated auricles" EXACT [] synonym: "Posteriorly-angulated ears" EXACT [] synonym: "Posteriorly-rotated ears" EXACT [] xref: UMLS:C0431478 "Posteriorly rotated ears" is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0000359 name: Abnormality of the inner ear def: "An abnormality of the `inner ear` (FMA:60909)." [HPO:probinson] synonym: "Inner ear abnormality" EXACT [] is_a: HP:0000598 ! Abnormality of the ear [Term] id: HP:0000360 name: Tinnitus def: "Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation." [Cochrane:ab005233] xref: MeSH:D014012 "Tinnitus" xref: UMLS:C0040264 "Tinnitus" is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000361 name: Pulsatile tinnitus (tympanic paraganglioma) def: "Pulsatile tinnitus related to a tympanic paraganglioma, which is a benign neoplasm of the middle ear." [HPO:probinson] xref: UMLS:C0751559 "Pulsatile Tinnitus" is_a: HP:0002864 ! Paraganglioma of head and neck is_a: HP:0008629 ! Pulsatile tinnitus [Term] id: HP:0000362 name: Otosclerosis def: "In otosclerosis, a callus of bone accumulates on the stapes creating a partial fixation. This limits the movement of the stapes bone, which results in hearing loss." [HPO:probinson, pmid:15931303] comment: Otosclerosis cannot be seen on an office examination. The audiogram indicates a conductive type of hearing loss. Testing of the stapedial reflexes indicates limited or no movement of the bones of hearing. xref: MeSH:D010040 "Otosclerosis" xref: UMLS:C0029899 "Otosclerosis" is_a: HP:0008628 ! Abnormality of the stapes [Term] id: HP:0000363 name: Abnormality of earlobe def: "An abnormality of the `lobule of pinna` (FMA:60984)." [HPO:probinson] synonym: "Abnormal earlobe" EXACT [] synonym: "Abnormality of ear lobe" EXACT [] is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000364 name: Hearing abnormality 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. is_a: HP:0000598 ! Abnormality of the ear [Term] id: HP:0000365 name: Hearing impairment alt_id: HP:0000404 alt_id: HP:0001728 alt_id: HP:0001729 alt_id: HP:0001754 alt_id: HP:0008560 alt_id: HP:0008563 def: "A `decreased magnitude` (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. The World Health Organization uses the word deafness to refer to complete loss of the ability to hear, and hearing impairment to refer to any degree of reduced hearing. synonym: "Congenital deafness" EXACT [] synonym: "Congenital hearing loss" EXACT [] synonym: "Deafness" EXACT [] synonym: "Hearing defect" EXACT [] synonym: "Hearing loss" RELATED [] xref: MeSH:D003638 "Deafness" xref: UMLS:C0011053 "Deafness" xref: UMLS:C0262435 "CONGENITAL HEARING LOSS" xref: UMLS:C2029884 "hearing loss" is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000366 name: Abnormality of the nose def: "An abnormality of the `nose` (FMA:46472)." [HPO:probinson] is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000368 name: Low-set, posteriorly rotated ears def: "Ears that are low-set (HP:0000369) and posteriorly rotated (HP:0000358)." [HPO:probinson] comment: This bundled term is left for convenience because of its common use in the literature. It is preferable to code each feature separately. synonym: "Low-set posteriorly rotated ears" EXACT [] xref: UMLS:C1857486 "Low-set posteriorly rotated ears" is_a: HP:0000358 ! Posteriorly rotated ears is_a: HP:0000369 ! Low-set ears [Term] id: HP:0000369 name: Low-set ears def: "Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear." [HPO:probinson, pmid:19152421] synonym: "Low set ears" EXACT [] synonym: "Lowset ears" EXACT [] synonym: "Melotia" EXACT [] xref: UMLS:C0239234 "Low set ears" is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0000370 name: Abnormality of the middle ear def: "An abnormality of the `middle ear` (FMA:56513)." [HPO:probinson] synonym: "Middle ear abnormalities" EXACT [] synonym: "Middle ear abnormality" EXACT [] xref: UMLS:C1861141 "Middle ear abnormalities" is_a: HP:0000598 ! Abnormality of the ear [Term] id: HP:0000371 name: Acute otitis media def: "Acute otitis media is a short and generally painful infection of the middle ear." [HPO:probinson] xref: UMLS:C0271429 "Acute otitis media" is_a: HP:0000388 ! Otitis media [Term] id: HP:0000372 name: Abnormality of the auditory canal def: "An abnormality of the `External acoustic tube` (FMA:61734) (also known as the auditory canal)." [HPO:probinson] synonym: "Auditory canal abnormality" EXACT [] is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000375 name: Abnormality of cochlea 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. is_a: HP:0011390 ! Morphological abnormality of the inner ear [Term] id: HP:0000376 name: Incomplete partition of the cochlea type II def: "The cochlea is lacking the entire modiolus and cribriform area, resulting in a cystic appearance. This is accompanied by a large cystic vestibule." [HPO:probinson] comment: 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. synonym: "Mondini malformation" RELATED [] xref: UMLS:C1857078 "Mondini malformation" is_a: HP:0011373 ! Incomplete partition of the cochlea [Term] id: HP:0000377 name: Abnormality of the pinna alt_id: HP:0000390 alt_id: HP:0000398 alt_id: HP:0004465 alt_id: HP:0008562 alt_id: HP:0008566 alt_id: HP:0008567 alt_id: HP:0008580 alt_id: HP:0008582 alt_id: HP:0008602 def: "An abnormality of the `pinna` (FMA:56580), which is also referred to as the auricle or external ear." [HPO:probinson] comment: The term 'dysplastic' is no longer accepted as a descriptor for an ear with unusual morphology. Each specific anatomical component of the ear should be described when the ear is thought to be abnormal in appearance. synonym: "Abnormal form of ears" EXACT [] synonym: "Abnormality of the external ear" EXACT [] synonym: "Abnormally shaped ears" EXACT [] synonym: "Auricular malformation" EXACT [] synonym: "Deformed auricles" EXACT [] synonym: "Deformed ears" EXACT [] synonym: "Dysplastic ears" EXACT [] synonym: "Malformation of auricle" EXACT [] synonym: "Malformed auricles" EXACT [] synonym: "Malformed ears" EXACT [] synonym: "Malformed external ears" EXACT [] synonym: "Minor malformation of the auricles" EXACT [] synonym: "Poorly defined conchae" EXACT [] synonym: "Simple ears" EXACT [] xref: UMLS:C1858566 "Malformed auricles" is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000378 name: Cupped ear alt_id: HP:0008531 alt_id: HP:0008600 def: "Laterally protruding ear that lacks antihelical folding (including absence of inferior and superior crura)." [HPO:probinson, pmid:19162421] synonym: "Capuchin ears" RELATED [] synonym: "Cup-shaped ears" EXACT [] synonym: "Simple, cup-shaped ears" EXACT [] xref: UMLS:C1845447 "Cupped ears" is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000381 name: Stapes ankylosis def: "Stapes ankylosis refers to congenital or acquired fixation of the stapes (the stirrup-shaped small bone or ossicle in the middle ear), which is associated with conductive hearing resulting from impairment of the sound-conduction mechanism (the external auditory canal, tympanic membrane, and/or middle-ear ossicles)." [HPO:probinson, pmid:12089654] comment: Stapes ankylosis may be congenital or acquired, in which case it is refered to as otosclerosis. Otosclerosis is the most common cause of progressive conductive hearing loss in adults, and is generally manifested as nonsyndromic, delayed-onset, conductive hearing loss, but it may also affect the inner ear to cause sensorineural loss. Congenital stapes ankylosis may be difficult to differentiate from otosclerosis when the diagnosis of conductive hearing loss is delayed. is_a: HP:0008628 ! Abnormality of the stapes [Term] id: HP:0000383 name: Abnormality of periauricular region is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000384 name: Preauricular skin tag alt_id: HP:0008575 alt_id: HP:0100278 def: "A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear)." [HPO:probinson] synonym: "Periauricular skin tag" EXACT [] synonym: "Preauricular skin tags" EXACT [] synonym: "Preauricular tag" EXACT [] synonym: "Preauricular tag, isolated (skin covered and composed of elastic cartilage)" EXACT [] synonym: "Preauricular tags" EXACT [] xref: UMLS:C1860816 "Preauricular skin tag" is_a: HP:0000383 ! Abnormality of periauricular region is_a: HP:0010609 ! Skin tags [Term] id: HP:0000385 name: Small earlobe alt_id: HP:0008616 def: "Reduced volume of the earlobe." [HPO:probinson, pmid:19152421] comment: All gradations in size of the earlobe may be seen from absent to clearly enlarged compared to average. This finding is highly variable. synonym: "Hypoplastic earlobes" EXACT [] synonym: "Hypoplastic lobules" EXACT [] xref: UMLS:C1845848 "Hypoplastic ear lobes" is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes [Term] id: HP:0000386 name: Large, floppy ears is_a: HP:0000400 ! Macrotia [Term] id: HP:0000387 name: Absent earlobe def: "Absence of fleshy non-cartilaginous tissue inferior to the tragus and incisura." [HPO:probinson, pmid:19152421] synonym: "Earlobe, absent" EXACT [] synonym: "Lobeless ears" EXACT [] xref: UMLS:C1849364 "Lobeless ears" is_a: HP:0009906 ! Aplasia/Hypoplasia of the earlobes [Term] id: HP:0000388 name: Otitis media def: "Inflammation or infection of the middle ear." [HPO:probinson] xref: MeSH:D010033 "Otitis Media" xref: UMLS:C0029882 "Otitis Media" is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0000389 name: Chronic otitis media alt_id: HP:0008524 def: "Chronic otitis media refers to fluid, swelling, or infection of the middle ear that does not heal and may cause permanent damage to the ear." [HPO:probinson] synonym: "Chronic ear infection" RELATED [] synonym: "OTITIS MEDIA, CHRONIC" EXACT [HPO:skoehler] xref: UMLS:C0271441 "Chronic otitis media" is_a: HP:0000388 ! Otitis media [Term] id: HP:0000391 name: Thickened helices def: "`Increased thickness` (PATO:0000591) of the`helix` (FMA:60992) of the ear." [HPO:probinson] xref: UMLS:C1842874 "Thickened helices" is_a: HP:0011039 ! Abnormality of the helix [Term] id: HP:0000394 name: Lop ear def: "Anterior and inferior folding of the upper portion of the ear that obliterates triangular fossa and scapha." [HPO:probinson, pmid:19152421] comment: The term 'lop ear' refers to excessive protrusion of the ear from the side of the head, that is, the external ear stands away from the head at a greater than normal angle (Normal angle of the auricle to the median plane averages 25 degrees in boys and 18 degrees in girls). Lop ears are usually larger than normal ears. Mild forms are limited to the superior ear, more severe forms affect the superior and posterior ear. The concha may be excessively concave. This should be distinguished from an Overfolded helix where the external contour of the ear is normal. xref: UMLS:C0266614 "Lop ears" is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000395 name: Prominent antihelix def: "The presence of an abnormally `prominent` (PATO:0001482) `antihelix` (FMA:60995)." [HPO:probinson] xref: UMLS:C1845272 "Prominent antihelix" is_a: HP:0009738 ! Abnormality of the antihelix [Term] id: HP:0000396 name: Overfolded helix alt_id: HP:0001758 alt_id: HP:0008570 def: "A condition in which the `helix` (FMA:60992) is `folded` (PATO:0001910) over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear." [HPO:probinson, pmid:19152421] comment: This is most often seen in the superior helix where it must be distinguished from a Lop ear (where the usual convexity of the posterior border of the ear is lost). Helix folding is highly variable. synonym: "Over-folded helices" EXACT [] synonym: "Overfolded ears" EXACT [] synonym: "Overfolded helices" EXACT [] xref: UMLS:C1837731 "Over-folded helices" is_a: HP:0008544 ! Abnormally folded helix [Term] id: HP:0000399 name: Prelingual sensorineural hearing impairment alt_id: HP:0001731 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" EXACT [] synonym: "Prelingual sensorineural deafness " EXACT [] is_a: HP:0011474 ! Childhood onset sensorineural hearing impairment [Term] id: HP:0000400 name: Macrotia alt_id: HP:0000382 alt_id: HP:0001755 def: "Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective)." [pmid:19152421] comment: This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used. synonym: "Large ears" EXACT [] synonym: "Large pinnae" EXACT [] synonym: "Large prominent ears" EXACT [] synonym: "Large protruding ears" EXACT [] synonym: "Large, prominent ears" EXACT [] synonym: "Large, prominent pinnae" EXACT [] synonym: "Large, protruding ears" EXACT [] xref: UMLS:C1835581 "Large protruding ears" xref: UMLS:C1850189 "Large pinnae" xref: UMLS:C1860838 "Large prominent ears" is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000401 name: Large, dysplastic ears synonym: "Large dysplastic ears" EXACT [] xref: UMLS:C1855062 "Large dysplastic ears" is_a: HP:0000400 ! Macrotia [Term] id: HP:0000402 name: Stenosis of the external auditory canal alt_id: HP:0000373 def: "An abnormal narrowing of the external auditory canal." [HPO:probinson] synonym: "External auditory canal stenosis" EXACT [] synonym: "Narrow auditory canals" EXACT [] synonym: "Narrow external auditory canals" EXACT [] synonym: "Narrow external auditory meatus" EXACT [] synonym: "Stenotic external auditory canal" EXACT [] xref: UMLS:C1866191 "Stenotic external auditory canal" is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0000403 name: Recurrent otitis media alt_id: HP:0008622 alt_id: HP:0008623 alt_id: HP:0008624 def: "Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media." [HPO:probinson] synonym: "Frequent otitis media" EXACT [] synonym: "Multiple episodes of otitis media" EXACT [] synonym: "Otitis media, recurrent" EXACT [HPO:skoehler] synonym: "Recurrent episodes of otitis media" EXACT [] synonym: "Susceptibility to otitis media" EXACT [] xref: UMLS:C0747085 "Recurrent otitis media" is_a: HP:0000388 ! Otitis media is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0000405 name: Conductive hearing impairment alt_id: HP:0000367 alt_id: HP:0008581 def: "An abnormality of `vibrational conductance of sound to the inner ear` (GO:0055127) leading to impairment of `sensory perception of sound` (GO:0007605)." [HPO:probinson] comment: A conductive hearing impariment with greater than 90 dB loss. synonym: "Conduction deafness" EXACT [] synonym: "Conductive deafness" EXACT [] synonym: "Conductive hearing loss" EXACT [] synonym: "Hearing loss, conductive" EXACT [] xref: MeSH:D006314 "Hearing Loss, Conductive" xref: UMLS:C0018777 "Conductive hearing loss" is_a: HP:0000365 ! Hearing impairment is_a: HP:0011452 ! Functional abnormality of the middle ear [Term] id: HP:0000407 name: Sensorineural hearing impairment alt_id: HP:0000374 alt_id: HP:0001753 alt_id: HP:0001916 alt_id: HP:0008538 alt_id: HP:0008553 alt_id: HP:0008565 alt_id: HP:0008576 alt_id: HP:0008611 alt_id: HP:0008613 alt_id: HP:0008614 def: "A type of `hearing impairment` (HP:0000365) in one or both ears related to 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, SENSORINEURAL" EXACT [HPO:skoehler] synonym: "Sensorineural deafness" EXACT [] is_a: HP:0000365 ! Hearing impairment is_a: HP:0011389 ! Functional abnormality of the inner ear [Term] id: HP:0000408 name: Progressive sensorineural hearing impairment alt_id: HP:0000397 alt_id: HP:0000406 alt_id: HP:0008592 alt_id: HP:0008601 alt_id: HP:0008617 def: "A `progressive` (PATO:0001818) form of `sensorineural hearing impairment` (HP:0000407)." [HPO:probinson] synonym: "Bilateral progressive sensorineural hearing loss" EXACT [] synonym: "Hearing loss, progressive sensorineural" EXACT [] synonym: "Hearing loss, sensorineural, bilateral, progressive" EXACT [] synonym: "Hearing loss, sensorineural, progressive" EXACT [] synonym: "Progressive bilateral sensorineural hearing loss" EXACT [] synonym: "Sensorineural hearing loss, progressive" EXACT [] xref: UMLS:C1970279 "Hearing loss, sensorineural, bilateral, progressive" is_a: HP:0000407 ! Sensorineural hearing impairment is_a: HP:0001730 ! Progressive hearing impairment [Term] id: HP:0000410 name: Mixed hearing impairment def: "A type of hearing loss resulting from a combination of `conductive hearing impairment` (HP:0000405) and `sensorineural hearing impairment` (HP:0000407)." [HPO:probinson] synonym: "HEARING LOSS, MIXED" EXACT [HPO:skoehler] synonym: "Mixed hearing loss" EXACT [] is_a: HP:0000405 ! Conductive hearing impairment [Term] id: HP:0000411 name: Protruding ear def: "Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective)." [pmid:19152421] synonym: "Prominent ear" EXACT [] xref: UMLS:C1855285 "Protruding ears" is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000412 name: Prominent ears xref: UMLS:C1305420 "Prominent ear" is_a: HP:0000377 ! Abnormality of the pinna [Term] id: HP:0000413 name: Atresia of the external auditory canal alt_id: HP:0008547 alt_id: HP:0008564 alt_id: HP:0008626 def: "Absence or failure to form of the external auditory canal." [HPO: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 canal atresia" EXACT [] synonym: "External auditory meatal atresia" EXACT [] synonym: "External auditory meatus atresia" EXACT [] xref: UMLS:C0266597 "AUDITORY CANAL ATRESIA, EXTERNAL" is_a: HP:0000372 ! Abnormality of the auditory canal [Term] id: HP:0000414 name: Bulbous nose alt_id: HP:0000443 def: "Increased volume and globular shape of the anteroinferior aspect of the nose." [pmid:19152422] comment: This is a bundled term, but as it is useful in practice it is kept here. This alteration of size and shape may be limited to the tip, but may involve the lower third of the nose. If only the width of the nasal tip is increased this should be coded as Broad nasal tip. synonym: "Bulbous nasal tip" RELATED [] xref: UMLS:C0240543 "Bulbous nose" xref: UMLS:C1855751 "Bulbous nasal tip" is_a: HP:0000436 ! Abnormality of the nasal tip is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000415 name: Abnormality of the choanae def: "Abnormality of the choanae (the posterior nasal apertures)." [HPO:curators] is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000417 name: Slender nose xref: UMLS:C1857645 "Slender nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000418 name: Narrow nasal ridge def: "Decreased width of the nasal ridge." [pmid:19152422] comment: This feature may be accompanied by narrow nasal bridge and narrow nasal base, which should be coded separately. synonym: "Pinched nose" EXACT [] xref: UMLS:C1837761 "Pinched nose" is_a: HP:0011119 ! Abnormality of the nasal dorsum [Term] id: HP:0000419 name: Abnormality of the nasal septum def: "An abnormality of the `nasal septum` (FMA:54375)." [HPO:probinson] is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000420 name: Short nasal septum xref: UMLS:C1844857 "Short nasal septum" is_a: HP:0000419 ! Abnormality of the nasal septum [Term] id: HP:0000421 name: Epistaxis def: "Epistaxis, or nosebleed, refers to a `hemorrhage` (MPATH:119) localized in the`nose` (FMA:46472)." [HPO:probinson] synonym: "nose bleeding" EXACT [] synonym: "nosebleed" EXACT [] xref: MeSH:D004844 "Epistaxis" xref: UMLS:C2228238 "epistaxis" is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000422 name: Abnormality of the nasal bridge alt_id: HP:0000423 def: "Abnormality of the nasal bridge, which is the saddle-shaped area that includes the nasal root and the lateral aspects of the nose. It lies between the glabella and the inferior boundary of the nasal bone, and extends laterally to the inner canthi." [HPO:probinson, pmid:19152422] comment: The nasal root is the most depressed, superior part of the nose along the nasal ridge. synonym: "Abnormality of the nasal root" EXACT [] is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000426 name: Prominent nasal bridge alt_id: HP:0000432 alt_id: HP:0000442 alt_id: HP:0004498 alt_id: HP:0005287 def: "Anterior positioning of the nasal root in comparison to the usual positioning for age." [pmid:19152422] comment: A prominent nasal bridge can occur irrespective of the width of the nasal bridge, and the width should be assessed separately. The nasal bridge becomes more prominent with age. Although the nasal root may be anteriorly placed without increasing the space between the eyes, prominence of the nasal bridge may be accompanied by Telecanthus or ocular Hypertelorism. If such findings are present these should be coded separately. Deep-set eyes may lead to the impression of a prominent nasal bridge, but this finding should be coded separately. synonym: "Elevated nasal bridge" EXACT [] synonym: "High nasal bridge" EXACT [] synonym: "Prominent nasal root" EXACT [] xref: UMLS:C1837533 "High nasal bridge" xref: UMLS:C1837827 "Prominent nasal bridge" xref: UMLS:C1843694 "Prominent nasal root" xref: UMLS:C1854113 "Elevated nasal bridge" is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000429 name: Abnormality of the nasal alae def: "An abnormality of the `Ala of nose` (FMA:59519)." [HPO:probinson, pmid:19152422] comment: The nasal ala is the tissue comprising the lateral boundary of the nose, inferiorly, surrounding the naris. synonym: "Abnormality of the nasal ala" EXACT [] is_a: HP:0010938 ! Abnormality of the external nose [Term] id: HP:0000430 name: Hypoplastic nasal alae alt_id: HP:0004507 alt_id: HP:0005277 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. With severe hypoplasia of the nasal alae, the nasal tip may appear depressed. 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:C1865990 "Hypoplastic nasal alae" is_a: HP:0000429 ! Abnormality of the nasal alae is_a: HP:0009924 ! Aplasia/Hypoplasia involving the nose [Term] id: HP:0000431 name: Wide nasal bridge alt_id: HP:0000424 alt_id: HP:0004500 alt_id: HP:0004504 alt_id: HP:0004650 def: "Increased breadth of the nasal bridge (and with it, the nasal root)." [HPO:probinson, pmid:19152422] comment: Care should be taken to distinguish between increased width of bone and Fullness of paranasal tissue. A wide nasal bridge should be distinguished from Telecanthus and Hypertelorism. A wide nasal bridge can be either prominent or depressed, which should be coded separately. synonym: "Broad nasal bridge" EXACT [] synonym: "Broad nasal root" EXACT [] synonym: "Broadened nasal bridge" EXACT [] synonym: "Nasal bridge broad" EXACT [] synonym: "Widened nasal bridge" EXACT [] xref: UMLS:C1864688 "Broad nasal bridge" xref: UMLS:C1866488 "Broad nasal root" is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000433 name: Abnormality of the nasal mucosa is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000434 name: Nasal mucosa telangiectasia def: "`Telangiectasia` (MPATH:476) of the nasal mucosa." [HPO:probinson] xref: UMLS:C1857696 "Nasal mucosa telangiectases" is_a: HP:0000433 ! Abnormality of the nasal mucosa is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000436 name: Abnormality of the nasal tip def: "An abnormality of the `nasal tip` (FMA:59518)." [HPO:probinson, pmid:19152422] comment: The nasal tip is located at the junction of the inferior margin of the nasal ridge and the columella. Commonly, it is the part of the nose furthest from the plane of the face. In rare circumstances, such as markedly prominent and convex nasal profiles, other parts of the ridge may be further removed from the facial plane. is_a: HP:0010938 ! Abnormality of the external nose [Term] id: HP:0000437 name: Depressed nasal tip alt_id: HP:0005279 def: "Decreased distance from the nasal tip to the nasal base." [pmid:19152422] comment: This often accompanies a Short columella, Overhanging nasal tip, and Underdeveloped nasal tip, but these should be assessed and coded separately. synonym: "Flat nasal tip" EXACT [] synonym: "Flattened nasal tip" EXACT [] synonym: "Nasal tip, depressed" EXACT [] synonym: "Nasal tip, recessed" EXACT [] synonym: "Nasal tip, retruded" EXACT [] xref: UMLS:C1858568 "Flat nasal tip" xref: UMLS:C1866967 "Flattened nasal tip" is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000444 name: Convex nasal ridge def: "Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low." [pmid:19152422] synonym: "Beaklike protrusion" EXACT [] synonym: "Hooked nose" EXACT [] xref: UMLS:C0240538 "Beaked nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000445 name: Wide nose alt_id: HP:0000438 def: "Interalar distance more than two standard deviations above the mean for age, i.e., an apparently increased width of the nasal base and alae." [pmid:19152422] synonym: "Broad nose" EXACT [] xref: UMLS:C1853571 "Broad nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000446 name: Narrow nasal bridge alt_id: HP:0100782 def: "Decreased width of the bony bridge of the nose." [pmid:19152422] comment: The narrowness may be accompanied by a sharp, keel-shaped appearance. The nasal bridge may narrow with age. synonym: " Nasal bridge, thin" EXACT [] synonym: "Narrow nasal root" EXACT [] synonym: "Nasal Bridge, Narrow " EXACT [] is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000447 name: Pear-shaped nose xref: UMLS:C1853482 "Pear-shaped nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000448 name: Prominent nose alt_id: HP:0000461 alt_id: HP:0005271 def: "Distance between subnasale and pronasale more than two standard deviations above the mean, or alternatively, an apparently increased anterior protrusion of the nasal tip." [pmid:19152422] synonym: "Disproportionately large nose" EXACT [] synonym: "Large nose" EXACT [] xref: UMLS:C0426415 "Large nose" xref: UMLS:C0847549 "Prominent nose" xref: UMLS:C1868548 "Disproportionately large nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000451 name: Triangular nasal tip xref: UMLS:C1839765 "Triangular nasal tip" is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000452 name: Choanal stenosis def: "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:curators] synonym: "Coanal stenosis" EXACT [] xref: UMLS:C0584837 "Choanal stenosis" is_a: HP:0000415 ! Abnormality of the choanae [Term] id: HP:0000453 name: Choanal atresia alt_id: HP:0000416 alt_id: HP:0004503 def: "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:probinson] xref: MeSH:D002754 "Choanal Atresia" xref: UMLS:C0008297 "Choanal Atresia" is_a: HP:0000415 ! Abnormality of the choanae [Term] id: HP:0000454 name: Flared nostrils synonym: "Flared nasal alae" EXACT [] is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0000455 name: Broad nasal tip alt_id: HP:0004501 alt_id: HP:0005269 def: "Increase in width of the `nasal tip` (FMA:59518)." [HPO:probinson, pmid:19152422] comment: MERGED COMMENT:\nTARGET COMMENT: Nasal tip width is assessed at the anterior junction of the alae and the tip. This is easier in persons with a somewhat squared shape of the nasal tip. This may be best viewed from the inferior aspect of the nose. No objective measures are available. See Bulbous nose for a related term.\n--------------------\nSOURCE COMMENT: This bundled term will be made obsolete in future versions of the HPO and should not be used for new annotations. synonym: " Nasal tip, wide" EXACT [] synonym: "Broad, upturned nose" EXACT [] synonym: "Nasal tip, broad" EXACT [] xref: UMLS:C0426429 "Broad nasal tip" is_a: HP:0000436 ! Abnormality of the nasal tip is_a: HP:0000463 ! Anteverted nares [Term] id: HP:0000456 name: Bifid nasal tip alt_id: HP:0005282 def: "A splitting of the nasal tip. Visually assessable vertical indentation, cleft, or depression of the nasal tip." [HPO:sdoelken, pmid:19152422] comment: This is a rare congenital deformity due to failure of the paired nasal processes to fuse to a single midline organ during early gestation. synonym: "Notched nasal tip" RELATED [] xref: UMLS:C0426428 "Bifid nasal tip" is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000457 name: Flat nose xref: UMLS:C1842876 "Flat nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000458 name: Anosmia def: "An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell." [HPO:curators] xref: UMLS:C0003126 "Anosmia" is_a: HP:0004408 ! Abnormality of the sense of smell [Term] id: HP:0000460 name: Narrow nose def: "Interalar distance more than 2 SD below the mean for age, or alternatively, an apparently decreased width of the nasal base and alae." [pmid:19152422] comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately. xref: UMLS:C0426422 "Narrow nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000462 name: Nasal polyps xref: MeSH:D009298 "Nasal Polyps" xref: UMLS:C0027430 "Nasal Polyps" is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000463 name: Anteverted nares alt_id: HP:0000427 alt_id: HP:0000435 alt_id: HP:0000441 def: "Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip)." [pmid:19152422] comment: The tip of the nose is upturned and is positioned superiorly to the nasal base, allowing the nares to be easily visualized from the front. With maturation and growth of the nasal ridge and tip, the nares usually become more downwardly directed. synonym: "Anteverted nose" EXACT [] synonym: "Anteverted nostrils" EXACT [] synonym: "Nasal tip, upturned" EXACT [] synonym: "Nostrils anteverted" EXACT [] synonym: "Upturned nasal tip" EXACT [] synonym: "Upturned nose" EXACT [] xref: UMLS:C0240582 "Upturned nose" xref: UMLS:C0240583 "Short upturned nose" xref: UMLS:C1853244 "Anteverted nares" is_a: HP:0000429 ! Abnormality of the nasal alae is_a: HP:0005105 ! Abnormal nasal morphology is_a: HP:0005288 ! Abnormality of the nares [Term] id: HP:0000464 name: Abnormality of the neck def: "An abnormality of the `neck` (FMA:7155)." [HPO:probinson] is_a: HP:0000152 ! Abnormality of head and neck [Term] id: HP:0000465 name: Webbed neck synonym: "Pterygium colli" EXACT [] xref: UMLS:C0221217 "Pterygium colli" is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000466 name: Limited neck range of motion is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0000467 name: Neck muscle weakness def: "`Decreased strength` (PATO:0001779) of the `neck musculature` (FMA:71290)." [HPO:probinson] xref: UMLS:C0240479 "Neck muscle weakness" is_a: HP:0001324 ! Muscle weakness is_a: HP:0011006 ! Abnormality of the musculature of the neck [Term] id: HP:0000468 name: Increased adipose tissue around the neck def: "An increased amount of subcutaneous fat tissue around the neck." [HPO:probinson] is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0009124 ! Abnormality of adipose tissue [Term] id: HP:0000470 name: Short neck alt_id: HP:0005992 def: "Diminished length of the `neck` (FMA:7155)." [HPO:probinson] xref: UMLS:C0521525 "Short neck" is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0000471 name: Gastrointestinal angiodysplasia def: "`Dysplasia` (MPATH:589) affecting the vasculature of the `gastrointestinal tract` (FMA:71132)." [HPO:probinson] xref: UMLS:C0854242 "Gastrointestinal angiodysplasia" is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature [Term] id: HP:0000472 name: Long neck xref: UMLS:C1839816 "Long neck" is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000473 name: Spasmodic torticollis 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: MeSH:D014103 "Torticollis" xref: UMLS:C0040485 "Torticollis" is_a: HP:0011006 ! Abnormality of the musculature of the neck is_a: HP:0011442 ! Abnormality of central motor function is_a: HP:0012179 ! Craniofacial dystonia [Term] id: HP:0000474 name: Thickened nuchal skin fold alt_id: HP:0000477 def: "A thickening of the skin thickness in the posterior aspect of the fetal neck. A nuchal fold measurement is obtained in a transverse section of the fetal head at the level of the cavum septum pellucidum and thalami, angled posteriorly to include the cerebellum. The measurement is taken from the outer edge of the occiput bone to the outer skin limit directly in the midline. A measurement 6 mm or more is considered significant between 18 and 24 weeks and a measurement of 5 mm or more is considered significant at 16 to 18 weeks (pmid:16100637)." [HPO:probinson, pmid:16100637] comment: A thickened nuchal fold should be distinguished from cystic hygroma, in which the skin in this area has fluid-filled loculations. A thickened nuchal fold should not be confused with nuchal translucency, which is a specific measurement of fluid in the posterior aspect of the neck at 11 to 14 weeks gestation (see practice guidelines at http://www.sogc.org). synonym: "Excess nuchal skin" EXACT [] synonym: "Redundant nuchal skin" EXACT [] xref: UMLS:C1858543 "Redundant nuchal skin" is_a: HP:0011425 ! Fetal ultrasound soft marker [Term] id: HP:0000475 name: Broad neck xref: UMLS:C1853638 "Broad neck" is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000476 name: Cystic hygroma def: "A cystic lymphatic lesion of the `neck` (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: MeSH:D018191 "Lymphangioma, cystic" xref: UMLS:C0206620 "Hygroma, Cystic" is_a: HP:0000464 ! Abnormality of the neck [Term] id: HP:0000478 name: Abnormality of the eye def: "Any abnormality of the `eye` (FMA:54448), including location, spacing, and intraocular abnormalities." [HPO:curators] synonym: "Eye disease" RELATED [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000479 name: Abnormality of the retina def: "An abnormality of the `retina` (FMA:58301)." [HPO:probinson] synonym: "Retinal disease" RELATED [] is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0000480 name: Retinal coloboma xref: UMLS:C0240896 "Retinal coloboma" is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0000589 ! Coloboma [Term] id: HP:0000481 name: Abnormality of the cornea alt_id: HP:0007771 alt_id: HP:0007972 def: "Any abnormality of the `cornea` (FMA:58238), which is the transparent tissue at the front of the eye that covers the iris, pupil, and anterior chamber." [HPO:probinson] synonym: "Corneal abnormalities" EXACT [] synonym: "Corneal abnormality" EXACT [] synonym: "Cornela disease" RELATED [] xref: UMLS:C1855670 "Corneal abnormalities" is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0000482 name: Microcornea alt_id: HP:0100688 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. synonym: "Decreased corneal diameter" EXACT [] xref: UMLS:C0266544 "Microcornea" is_a: HP:0001120 ! Abnormality of corneal size [Term] id: HP:0000483 name: Astigmatism def: "Astigmatism describes a refractive error characterized by a difference in the horizontal and vertical curvature of the cornea." [DDD:ncarter, HPO:probinson] comment: The irregular curvature associated with astigmatism means that the optical system is not symmetric about the optical axis. Most commonly the cornea is affected such that the refractive power in one meridian is less than that of the perpendicular axis. Astigmatism of significant degree causes blurry vision. xref: MeSH:D001251 "Astigmatism" xref: UMLS:C0004106 "Astigmatism" is_a: HP:0000539 ! Abnormality of refraction is_a: HP:0100691 ! Abnormality of the curvature of the cornea [Term] id: HP:0000484 name: Hyperopic astigmatism def: "A form of astigmatism in which one meridian is hyperopic while the one at a right angle to it has no refractive error." [HPO:probinson] xref: UMLS:C1847524 "Hyperopic astigmatism" is_a: HP:0000483 ! Astigmatism [Term] id: HP:0000485 name: Megalocornea alt_id: HP:0007660 def: "An enlargement of the `cornea` (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] synonym: "Increased corneal diameter" EXACT [] xref: UMLS:C0344530 "Keratoglobus" xref: UMLS:C1167712 "Increased corneal diameter" is_a: HP:0001120 ! Abnormality of corneal size [Term] id: HP:0000486 name: Strabismus def: "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] synonym: "Squint" EXACT [] xref: MeSH:D013285 "Strabismus" xref: UMLS:C2020541 "strabismus" is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000487 name: Congenital strabismus xref: UMLS:C0521579 "Congenital strabismus" is_a: HP:0000486 ! Strabismus [Term] id: HP:0000488 name: Retinopathy xref: UMLS:C1962966 "Retinopathy" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000489 name: Abnormality of globe location or size is_obsolete: true [Term] id: HP:0000490 name: Deeply set eye 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 "Deep set eyes" is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000491 name: Keratitis def: "Inflammation of the cornea." [HPO:curators] xref: MeSH:D007634 "Keratitis" xref: UMLS:C0022568 "Keratitis" is_a: HP:0000481 ! Abnormality of the cornea is_a: HP:0011495 ! Abnormality of corneal epithelium is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000492 name: Abnormality of the eyelid alt_id: HP:0000285 def: "An abnormality of the `eyelids` (FMA:75178)." [HPO:probinson] synonym: "Abnormality of the eyelids" EXACT [] 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 def: "An abnormality of the `fovea centralis` (FMA:58658), the central area of the macula that mediates central, high resolution vision and contains the largest concentration of cone cells in the retina." [HPO:probinson] is_a: HP:0001103 ! Abnormality of the macula created_by: peter creation_date: 2008-04-02T01:29:00Z [Term] id: HP:0000494 name: Downslanted palpebral fissures alt_id: HP:0007714 alt_id: HP:0007908 def: "The palpebral fissure inclination is more than two standard deviations below the mean." [pmid:19125427] synonym: "Antimongoloid eye slant" EXACT [] synonym: "Antimongoloid slant of palpebral fissures" EXACT [] synonym: "Antimongoloid slanted palpebral fissures" EXACT [] synonym: "Down slanting palpebral fissures" EXACT [] synonym: "Down-slanted palpebral fissures" EXACT [] synonym: "Down-slanting palpebral fissure" EXACT [] synonym: "Down-slanting palpebral fissures" EXACT [] synonym: "Downslanting palpebral fissure" EXACT [] synonym: "Downslanting palpebral fissures" EXACT [HPO:skoehler] synonym: "Downward slanted palpebral fissures" EXACT [] synonym: "Downward-slanting palpebral fissures" EXACT [] synonym: "Palpebral fissures down-slanted" EXACT [] xref: UMLS:C0423110 "Downward slanting palpebral fissures" is_a: HP:0200006 ! Slanting of the palpebral fissure [Term] id: HP:0000495 name: Recurrent corneal erosions alt_id: HP:0007674 alt_id: HP:0007749 def: "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [HPO:curators] synonym: "Corneal erosions, recurrent" EXACT [] synonym: "Corneal ulceration" RELATED [] synonym: "Corneal ulcerations" EXACT [] synonym: "Epithelial corneal erosions" RELATED [] synonym: "Recurrent corneal ulceration" EXACT [] xref: UMLS:C0155119 "Recurrent corneal erosions" is_a: HP:0200020 ! Corneal erosions [Term] id: HP:0000496 name: Abnormality of eye movement alt_id: HP:0006860 def: "An abnormality in voluntary or involuntary eye movements or their control." [HPO:probinson] synonym: "Abnormal extraocular movement" EXACT [] synonym: "Abnormal extraocular movements" EXACT [] synonym: "Abnormal eye motility" EXACT [] synonym: "Abnormal eye movement" EXACT [] synonym: "Abnormal eye movements" EXACT [] synonym: "Abnormal ocular movements" EXACT [] synonym: "Eye movement abnormalities" EXACT [] synonym: "Ocular movement abnormalities" EXACT [] synonym: "Oculomotor abnormalities" EXACT [] xref: UMLS:C1854374 "Eye movement abnormalities" is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000497 name: Globe retraction and deviation on abduction is_a: HP:0011347 ! Abnormality of ocular abduction [Term] id: HP:0000498 name: Blepharitis def: "Inflammation of the eyelids." [HPO:curators] xref: MeSH:D001762 "Blepharitis" xref: UMLS:C2230188 "blepharitis" is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000499 name: Abnormality of the eyelashes alt_id: HP:0004530 def: "An abnormality of the `eyelashes` (FMA:53669)." [HPO:probinson] synonym: "Eyelash abnormality" EXACT [] is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0001595 ! Abnormality of the hair [Term] id: HP:0000501 name: Glaucoma def: "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:probinson, pmid:11815354] comment: The feature that differentiates glaucoma from other causes of visual morbidity is a characteristic pattern of damage to the optic nerve head. This is most easily recognised at the superior and inferior poles of the optic disc. The vertical cup:disc ratio (VCDR) has proved to be a simple, relatively robust index of glaucomatous loss of the neuroretinal rim. As with intraocular pressure, VCDR is a continuous variable within the population. xref: MeSH:D005901 "Glaucoma" xref: UMLS:C1962986 "Glaucoma" is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000502 name: Abnormality of the conjunctiva 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). is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000503 name: Tortuosity of conjunctival vessels def: "The presence of an increased number of twists and turns of the conjunctival blood vessels." [HPO:probinson] is_a: HP:0008054 ! Abnormality of the vasculature of the conjunctiva [Term] id: HP:0000504 name: Abnormality of vision def: "Abnormality of eyesight (visual perception)." [HPO:curators] is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000505 name: Visual impairment alt_id: HP:0000516 alt_id: HP:0000566 alt_id: HP:0007860 alt_id: HP:0007983 def: "Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery." [DDD:gblack] synonym: "Decreased visual acuity" EXACT [] synonym: "Impaired vision" EXACT [] synonym: "Poor vision" EXACT [] synonym: "Poor visual acuity" EXACT [] synonym: "Reduced visual acuity" EXACT [] xref: UMLS:C0580104 "Poor visual acuity" is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000506 name: Telecanthus def: "Distance between the inner canthi more than two standard deviations above the mean (objective); or, apparently increased distance between the inner canthi." [HPO: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 not necessarily widely spaced. synonym: "Dystopia canthorum" EXACT [] xref: UMLS:C0423113 "Telecanthus" is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000508 name: Ptosis def: "The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective)." [pmid:19125427] synonym: "Blepharoptosis" EXACT [] synonym: "EYELID PTOSIS" EXACT [HPO:skoehler] xref: MeSH:D001763 "Blepharoptosis" xref: UMLS:C0005745 "Ptosis" is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000509 name: Conjunctivitis def: "Inflammation of the `conjunctiva` (FMA:59011)." [HPO:probinson] xref: MeSH:D003231 "Conjunctivitis" xref: UMLS:C0009763 "Conjunctivitis" is_a: HP:0000502 ! Abnormality of the conjunctiva is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000510 name: Retinitis pigmentosa alt_id: HP:0001127 alt_id: HP:0007635 alt_id: HP:0007645 alt_id: HP:0007742 alt_id: HP:0007816 alt_id: HP:0007826 alt_id: HP:0007927 def: "Hereditary degeneration and atrophy of the retina." [HPO:probinson] comment: Retinitis pigmentosa is a groupü of hereditary diseases of the eye. However, the term retinitis pigmentosa has also been used to describe the retinal findings characteristic of these diseases but also seen on other diseases such as Usher syndrome. It is preferable to describe the findings precisely if possible, but this term is kept for convenience. xref: MeSH:D012174 "Retinitis Pigmentosa" xref: UMLS:C0035334 "Retinitis Pigmentosa" is_a: HP:0007703 ! Abnormal retinal pigmentation [Term] id: HP:0000511 name: Vertical supranuclear gaze palsy def: "A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [HPO:probinson] xref: UMLS:C1843369 "Vertical supranuclear gaze palsy" is_a: HP:0000605 ! Supranuclear gaze palsy [Term] id: HP:0000512 name: Abnormal electroretinogram alt_id: HP:0003285 def: "Any abnormality of the electrical responses of various cell types in the retina as measured by electroretinography." [HPO:probinson] comment: The electrical responses of the photoreceptors (rods and cones), inner retinal cells (bipolar and amacrine cells), and the ganglion cells can be assessed by ERG. synonym: "Abnormal electroretinogram (ERG)" EXACT [] synonym: "Abnormal electroretinography" EXACT [] synonym: "Abnormal ERG" EXACT [] synonym: "ERG abnormal" EXACT [] xref: UMLS:C0476397 "Abnormal electroretinogram" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000514 name: Slow saccadic eye movements def: "An abnormally slow velocity of the saccadic eye movements." [HPO:probinson] comment: Saccades are rapid eye movements that align the fovea with the target. synonym: "Slow saccades" EXACT [] xref: UMLS:C1321329 "Slow saccades" is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000517 name: Abnormality of the lens def: "An abnormality of the `lens` (FMA:58241)." [HPO:probinson] synonym: "Lens disease" RELATED [] is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0000518 name: Cataract 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: MeSH:D002386 "Cataract" xref: UMLS:C0086543 "Cataract" is_a: HP:0000517 ! Abnormality of the lens [Term] id: HP:0000519 name: Congenital cataract alt_id: HP:0001108 alt_id: HP:0007679 alt_id: HP:0007726 alt_id: HP:0007788 def: "A congenital `cataract` (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:C0521707 "Bilateral cataracts" is_a: HP:0000518 ! Cataract [Term] id: HP:0000520 name: Proptosis alt_id: HP:0000536 alt_id: HP:0000644 alt_id: HP:0000645 alt_id: HP:0007711 alt_id: HP:0007870 def: "An eye that is protruding anterior to the plane of the face to a greater extent than is typical." [HPO:sdoelken, pmid:19125427] comment: Some sources define "exophthalmos" as a protrusion of the globe greater than 18 mm and "proptosis" as a protusion equal to or less than 18 mm. Others define "exophthalmos" as protusion secondary to endocrine dysfunction and "proptosis" as any non-endocrine-mediated protusion (Source: Wikipedia). This finding should be distinguished frm underdevelopment of the supraorbital ridge or maxilla/zygoma. In proptosis, the globe is anteriorly protuberant to the overall plane of the face. synonym: "Anterior bulging of the globe" EXACT [] synonym: "Exophthalmos" EXACT [] synonym: "Ocular proptosis" EXACT [] synonym: "Prominent eyes" EXACT [] synonym: "Prominent globes" EXACT [] synonym: "Protruding eyes" EXACT [] xref: MeSH:D005094 "Exophthalmos" xref: UMLS:C1862425 "Prominent globes" is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000521 name: Abnormality of tear glands or tear production is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000522 name: Alacrima def: "Absence of tear secretion." [HPO:probinson] comment: Alacrima is generally a congenital deficiency. xref: UMLS:C0344505 "Alacrima" is_a: HP:0000633 ! Decreased lacrimation [Term] id: HP:0000523 name: Subcapsular cataract alt_id: HP:0001490 alt_id: HP:0007978 def: "A cataract that affects the region of the lens directly beneath the `capsule of the lens` (FMA:58881)." [HPO:probinson] synonym: "Subcapsular cataracts" EXACT [] synonym: "Subcapsular lenticular cataracts" EXACT [] synonym: "Subcapsular opacities" EXACT [] xref: UMLS:C1866179 "Subcapsular opacities" is_a: HP:0010696 ! Polar cataract [Term] id: HP:0000524 name: Conjunctival telangiectasia def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the conjunctiva." [HPO:probinson] synonym: "Conjunctival telangiectases" EXACT [] synonym: "Telangiectasia, conjunctival" EXACT [] xref: UMLS:C0239105 "Telangiectasia, conjunctival" is_a: HP:0008054 ! Abnormality of the vasculature of the conjunctiva is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0000525 name: Abnormality of the iris def: "An abnormality of the `iris` (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] 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 def: "Congenital absence of the `iris` (FMA:58235)." [HPO:probinson] xref: MeSH:D015783 "Aniridia" xref: UMLS:C0003076 "Aniridia" is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris [Term] id: HP:0000527 name: Long eyelashes alt_id: HP:0000500 def: "Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective)." [pmid:19125427] 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: "Ciliary trichomegaly" EXACT [] synonym: "Unusually long eyelashes" EXACT [] xref: UMLS:C1853738 "Long eyelashes" is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0000528 name: Anophthalmia alt_id: HP:0001485 alt_id: HP:0007664 def: "Absence of the globe or eyeball." [DDD:ncarter] synonym: "Anophthalmia, clinical" EXACT [] synonym: "Clinical anophthalmia, unilateral/bilateral" EXACT [] xref: UMLS:C0003119 "Anophthalmia" is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0000529 name: Progressive visual loss alt_id: HP:0000560 alt_id: HP:0007735 alt_id: HP:0007753 alt_id: HP:0007967 def: "A reduction of previously attained ability to see." [HPO:probinson] synonym: "Loss of visual acuity" EXACT [] synonym: "Progressive loss of vision" EXACT [] synonym: "Progressive vision loss" EXACT [] synonym: "Progressive visual acuity loss" EXACT [] synonym: "Progressive visual impairment" EXACT [] synonym: "Slowly progressive visual loss" EXACT [] synonym: "Visual loss, progressive" EXACT [] xref: UMLS:C1866286 "Visual loss, progressive" is_a: HP:0000572 ! Visual loss [Term] id: HP:0000531 name: Corneal crystals xref: UMLS:C1857391 "Corneal crystals" is_a: HP:0007759 ! Opacification of the corneal stroma [Term] id: HP:0000532 name: Chorioretinal abnormality def: "An abnormality of the choroid and retina." [HPO:probinson] comment: The choroid is the vascular layer of the eye, located between the retina and the sclera. is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0000533 name: Chorioretinal atrophy alt_id: HP:0007918 alt_id: HP:0007931 def: "Atrophy of the choroid and retinal layers of the fundus." [HPO:probinson] synonym: "Chorioretinal degeneration" EXACT [] synonym: "Chorioretinal thinning" EXACT [] xref: UMLS:C0521683 "Chorioretinal atrophy" xref: UMLS:C1850241 "Progressive chorioretinal degeneration" is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0000534 name: Abnormality of the eyebrow def: "An abnormality of the `eyebrow` (FMA:54237)." [HPO:probinson] is_a: HP:0000284 ! Abnormality of the ocular region is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0001595 ! Abnormality of the hair [Term] id: HP:0000535 name: Sparse eyebrow alt_id: HP:0002222 alt_id: HP:0002554 alt_id: HP:0004520 alt_id: HP:0004551 def: "Decreased density/number and/or decreased diameter of eyebrow hairs." [pmid:19125427] comment: Sparseness can be regional (medial, central, lateral) or total. These modifiers should be incorporated into the term, when appropriate. synonym: "Hypotrichosis of eyebrow" EXACT [] synonym: "Thin eyebrows" EXACT [] synonym: "Thin, sparse eyebrows" EXACT [] xref: UMLS:C0578682 "Sparse eyebrows" is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow [Term] id: HP:0000537 name: Epicanthus inversus def: "A fold of skin starting at or just below the medial aspect of the lower lid and arching upward to cover, extend in front of and lateral to the medial canthus." [pmid:19125427] xref: UMLS:C1303003 "Epicanthus inversus" is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000538 name: Pseudopapilledema xref: UMLS:C0155300 "Pseudopapilledema" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000539 name: Abnormality of refraction def: "An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina." [HPO:probinson] is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000540 name: Hypermetropia def: "An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry." [HPO:probinson] synonym: "Farsightedness" EXACT [] synonym: "Hyperopia" EXACT [] synonym: "Long-sightedness." EXACT [] xref: MeSH:D006956 "Hyperopia" xref: UMLS:C0020490 "Hypermetropia" is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000541 name: Retinal detachment alt_id: HP:0007864 alt_id: HP:0008021 def: "Separation of the inner layers of the retina (neural retina) from the pigment epithelium." [HPO:probinson] synonym: "Detached retina" EXACT [] xref: MeSH:D012163 "Retinal Detachment" xref: UMLS:C1963229 "Retinal detachment" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000542 name: Impaired ocular adduction xref: UMLS:C1846463 "Impaired ocular adduction" is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000543 name: Optic disc pallor alt_id: HP:0001148 alt_id: HP:0001484 def: "A pale yellow discoloration of the optic disk (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression." [HPO:probinson] comment: Optic disc pallor can be judged clinically with serial color photographs or by comparison to the other eye. synonym: "Pale optic disc" EXACT [] synonym: "Pale optic disk" EXACT [] xref: UMLS:C0554970 "Pale optic discs" is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0000544 name: External ophthalmoplegia alt_id: HP:0007762 def: "Paralysis of the external ocular muscles." [HPO:probinson] synonym: "Ophthalmoplegia externa" EXACT [] xref: UMLS:C0162292 "External Ophthalmoplegia" is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000545 name: Myopia alt_id: HP:0001110 alt_id: HP:0007847 def: "An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry." [HPO:probinson] xref: MeSH:D009216 "Myopia" xref: UMLS:C0027092 "Myopia" is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000546 name: Retinal degeneration alt_id: HP:0007632 xref: MeSH:D012162 "Retinal Degeneration" xref: UMLS:C0035304 "Retinal Degeneration" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000547 name: Tapetoretinal degeneration xref: UMLS:C0035334 "Retinitis Pigmentosa" is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0000548 name: Cone-rod dystrophy alt_id: HP:0008157 synonym: "Cone-rod retinal dystrophy" EXACT [] is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0000549 name: Disconjugate eye movements synonym: "Abnormal conjugate eye movement" EXACT [] is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000550 name: Abolished electroretinogram (ERG) alt_id: HP:0008042 def: "Lack of any response to stimulation upon electroretinography." [HPO:probinson] synonym: "Abolished electroretinogram" EXACT [] synonym: "Absent electroretinogram" EXACT [] synonym: "Extinction of electroretinogram" EXACT [] synonym: "Extinguished electroretinogram" EXACT [] synonym: "No light-evoked response on electroretinogram" EXACT [] xref: UMLS:C1855685 "Extinguished electroretinogram" is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0000551 name: Abnormality of color vision def: "An anomaly in the ability to discriminate between or recognize colors." [HPO:probinson] synonym: "Abnormal color vision" EXACT [] synonym: "Color vision defect" RELATED [] xref: UMLS:C0234629 "Abnormal color vision" is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000552 name: Tritanomaly def: "Difficulty distinguishing between yellow and blue, possible related to dysfunction of the S photopigment." [HPO:probinson] synonym: "Blue-yellow dyschromatopsia" EXACT [] synonym: "Dyschromatopsia, blue-yellow" EXACT [] xref: UMLS:C1853142 "Blue-yellow dyschromatopsia" is_a: HP:0011519 ! Anomalous trichromacy [Term] id: HP:0000553 name: Abnormality of the uvea def: "An abnormality of the `uvea` (FMA:58103), the vascular layer of the eyeball." [HPO:probinson] is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000554 name: Uveitis def: "Inflammation of one or all portions of the uveal tract." [HPO:curators] comment: The uvea is the pigmented middle layer of the eye consisting of the iris and ciliary body together with the choroid. xref: MeSH:D014605 "Uveitis" xref: UMLS:C1963266 "Uveitis" is_a: HP:0000553 ! Abnormality of the uvea is_a: HP:0100533 ! Inflammatory abnormality of the eye [Term] id: HP:0000555 name: Leukocoria def: "An abnormal white reflection from the pupil rather than the usual black reflection." [HPO:probinson] comment: The word leukocoria literally means white pupil, but leukocoria is not an abnormality of the pupil. Rather, leukocoria can be caused by cataract, retinal detachment, retinopathy of prematurity, retinal malformation, endophthalmitis, retinal vascular abnormality, and intraocular tumor (e.g., retinoblastoma). xref: UMLS:C0152458 "Leucocoria" is_a: HP:0000615 ! Abnormality of the pupil [Term] id: HP:0000556 name: Retinal dystrophy alt_id: HP:0007974 xref: MeSH:D058499 "Retinal Dystrophies" xref: UMLS:C0854723 "Retinal dystrophy" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000557 name: Buphthalmos def: "Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched." [HPO:curators] xref: UMLS:C0020302 "Congenital glaucoma" is_a: HP:0001087 ! Congenital glaucoma [Term] id: HP:0000558 name: Rieger anomaly def: "A congenital malformation of the anterior segment characterized by iridicorneal malformation, glaucoma, iris stroma hypoplasia, posterior embryotoxon, and corneal opacities." [HPO:probinson] comment: Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea. xref: UMLS:C0265341 "Rieger anomaly" is_a: HP:0007676 ! Hypoplasia of the iris is_a: HP:0007700 ! Anterior segment dysgenesis [Term] id: HP:0000559 name: Corneal scarring xref: UMLS:C0349702 "CORNEAL SCARRING" is_a: HP:0007957 ! Reduction of corneal clarity is_a: HP:0100699 ! Scarring [Term] id: HP:0000561 name: Absent eyelashes alt_id: HP:0002288 alt_id: HP:0004516 alt_id: HP:0004539 alt_id: HP:0007926 def: "Lack of eyelashes." [HPO:curators, pmid:19125427] comment: Often this finding is congenital and associated with alopecia universalis, but this should be coded separately. synonym: "Atrichia of eyelashes" EXACT [] xref: UMLS:C1843005 "Absent eyelashes" is_a: HP:0000499 ! Abnormality of the eyelashes is_a: HP:0002298 ! Absent hair [Term] id: HP:0000563 name: Keratoconus def: "A cone-shaped deformity of the cornea." [HPO:probinson] xref: MeSH:D007640 "Keratoconus" xref: UMLS:C0022578 "Keratoconus" is_a: HP:0100689 ! Decreased corneal thickness is_a: HP:0100692 ! Increased corneal curvature [Term] id: HP:0000564 name: Lacrimal duct atresia alt_id: HP:0007729 def: "A developmental disorder of the lacrimal drainage system that most often affects the lacrimal ostium and resulting in non-opening of the nasolacrimal duct. It usually results from a non-canalization of the nasolacrimal duct." [HPO:probinson] synonym: "Imperforate nasolacrimal ducts" EXACT [] synonym: "Nasolacrimal duct atresia" EXACT [] xref: UMLS:C1863756 "Lacrimal duct atresia" is_a: HP:0011481 ! Abnormality of the lacrimal duct [Term] id: HP:0000565 name: Esotropia def: "A form of strabismus with one or both eyes turned inward ('crossed')." [HPO:probinson] synonym: "Convergent strabismus" EXACT [] xref: MeSH:D004948 "Esotropia" xref: UMLS:C0014877 "Strabismus, Convergent" is_a: HP:0000486 ! Strabismus [Term] id: HP:0000567 name: Chorioretinal coloboma alt_id: HP:0007718 def: "Absence of a region of the retina, retinal pigment epithelium, and choroid." [HPO:probinson] synonym: "Choroidoretinal coloboma" EXACT [] xref: UMLS:C1844534 "Choroidoretinal coloboma" is_a: HP:0000480 ! Retinal coloboma is_a: HP:0000532 ! Chorioretinal abnormality is_a: HP:0000611 ! Choroid coloboma [Term] id: HP:0000568 name: Microphthalmos alt_id: HP:0007996 def: "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:probinson] synonym: "Microphthalmia" EXACT [] synonym: "Nanophthalmos" RELATED [] xref: MeSH:D008850 "Microphthalmos" xref: UMLS:C1055232 "Microphthalmus" xref: UMLS:C1837464 "Small eyes" is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0000570 name: Abnormality of saccadic eye movements alt_id: HP:0000604 def: "An `abnormality of eye movement` (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. synonym: "Impaired saccades" RELATED [] xref: UMLS:C1842584 "Impaired saccades" is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000571 name: Hypometric saccades def: "Saccadic undershoot, i.e., a saccadic eye movement that has less than the magnitude that would be required to gain fixation of the object." [HPO:probinson, pmid:572501] xref: UMLS:C0423082 "Hypometric saccades" is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000572 name: Visual loss def: "Loss of visual acuity (implying that vision was better at a certain timepoint in live - otherwise the term is impaired vision or a subclass of that)." [HPO:sdoelken] synonym: "Loss of vision" EXACT [] is_a: HP:0000505 ! Visual impairment [Term] id: HP:0000573 name: Retinal hemorrhage def: "`Hemorrhage` (MPATH:119) occurring within the `retina` (FMA:58301)." [HPO:gcarletti] synonym: "Retinal bleeding" EXACT [] synonym: "Retinal hemorrhages" EXACT [] xref: MeSH:D012166 "Retinal hemorrhage" xref: UMLS:C0035317 "Retinal hemorrhage" is_a: HP:0008046 ! Abnormality of the retinal vasculature is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0011885 ! Hemorrhage of the eye [Term] id: HP:0000574 name: Thick eyebrow alt_id: HP:0004546 def: "Increased density/number and/or increased diameter of eyebrow hairs." [pmid:19125427] comment: Thickness can be regional (medial, middle/central, lateral) or total. synonym: "Broad bushy eyebrows" EXACT [] synonym: "Bushy eyebrows" EXACT [] synonym: "Dense eyebrow" EXACT [] synonym: "Heavy eyebrows" EXACT [] synonym: "Hypertrichosis of the eyebrow" EXACT [] synonym: "Prominent eyebrows" EXACT [] synonym: "Thick eyebrows" EXACT [HPO:skoehler] xref: UMLS:C1839313 "Prominent eyebrows" is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0000575 name: Scotoma def: "Scotoma refers to an area or island of loss or impairment of visual acuity surrounded by a field of normal or relatively well-preserved vision." [HPO:curators] xref: MeSH:D012607 "Scotoma" is_a: HP:0001123 ! Visual field defect [Term] id: HP:0000576 name: Centrocecal scotoma def: "A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape." [HPO:probinson] xref: UMLS:C0271196 "Centrocaecal scotoma" is_a: HP:0000575 ! Scotoma [Term] id: HP:0000577 name: Exotropia def: "A form of strabismus with one or both eyes deviated outward." [HPO:probinson] xref: MeSH:D005099 "Exotropia" xref: UMLS:C0015310 "Exotropia" is_a: HP:0000486 ! Strabismus [Term] id: HP:0000579 name: Nasolacrimal duct obstruction synonym: "Lacrimal duct obstruction" EXACT [] xref: MeSH:D007767 "Lacrimal Duct Obstruction" xref: UMLS:C1281931 "Nasolacrimal duct obstruction" is_a: HP:0011481 ! Abnormality of the lacrimal duct [Term] id: HP:0000580 name: Pigmentary retinopathy xref: UMLS:C0035334 "Retinitis Pigmentosa" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000581 name: Blepharophimosis alt_id: HP:0000507 alt_id: HP:0000513 def: "A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures." [pmid:19125427] comment: When the palpebral fissures are severely shortened, they cannot be widely separated, actively or passively. synonym: "Narrow palpebral fissures" EXACT [] synonym: "Short palpebral fissure" EXACT [] synonym: "Short palpebral fissures" EXACT [] xref: MeSH:D016569 "Blepharophimosis" xref: UMLS:C0005744 "Blepharophimosis" is_a: HP:0200007 ! Abnormal size of the palpebral fissures [Term] id: HP:0000582 name: Upslanted palpebral fissure def: "The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age." [pmid:19125427] synonym: "Mongoloid slant" EXACT [] synonym: "Upslanting palpebral fissures" EXACT [] synonym: "Upward slanted palpebral fissures" EXACT [] synonym: "Upward slanting of palpebral fissures" EXACT [] synonym: "Upward slanting palpebral fissures" EXACT [] xref: UMLS:C0239542 "Mongoloid slant" is_a: HP:0200006 ! Slanting of the palpebral fissure [Term] id: HP:0000584 name: Punctate corneal epithelial erosions xref: UMLS:C1832170 "Punctate corneal epithelial erosions" is_a: HP:0200020 ! Corneal erosions [Term] id: HP:0000585 name: Band keratopathy 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:C1720530 "Calcific band keratopathy" is_a: HP:0011493 ! Central opacification of the cornea [Term] id: HP:0000586 name: Shallow orbits alt_id: HP:0002706 def: "Reduced depth of the orbits associated with prominent-appearing ocular globes." [HPO:probinson] synonym: "Small shallow orbits" EXACT [] xref: UMLS:C1859765 "Small orbits" is_a: HP:0000520 ! Proptosis [Term] id: HP:0000587 name: Abnormality of the optic nerve def: "Abnormality of the `optic nerve` (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. is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0000588 name: Optic nerve coloboma alt_id: HP:0007997 def: "A cleft of the optic nerve that extends inferiorly." [HPO:probinson, pmid:16219745] comment: A congenital, unilateral or bilateral congenital condition caused by incomplete closure of the embryonic fissure. synonym: "Coloboma of optic nerve" EXACT [] synonym: "Optic disk coloboma" EXACT [] xref: UMLS:C0155299 "Optic nerve coloboma" is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0000589 ! Coloboma [Term] id: HP:0000589 name: Coloboma alt_id: HP:0007767 alt_id: HP:0007995 def: "A developmental defect characterized by a cleft of some portion of the `eye` (FMA:54448`) or ocular adnexa." [HPO:probinson] synonym: "Ocular coloboma" EXACT [] synonym: "Ocular colobomas" EXACT [] xref: MeSH:D003103 "Coloboma" xref: UMLS:C0009363 "Colobomas" is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000590 name: Progressive external ophthalmoplegia alt_id: HP:0000562 def: "Initial bilateral ptosis followed by limitation of eye movements in all directions and slowing of saccades." [HPO:probinson] comment: Progressive external ophthalmoplegia (PEO) can be regarded as a diagnosis, or as a feature of several other syndromes. The latter is the meaning of this term. synonym: "External ophthalmoplegia, progressive (PEO)" EXACT [] xref: UMLS:C0162674 "Progressive External Ophthalmoplegia" is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0000591 name: Abnormality of the sclera def: "An abnormality of the `sclera` (FMA:58269)." [HPO:probinson] is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000592 name: Blue sclerae def: "An abnormal bluish coloration of the `sclera` (FMA:58269)." [HPO:probinson] synonym: "Blue sclera" EXACT [] synonym: "Bluish sclerae" EXACT [] xref: UMLS:C0542514 "Blue sclerae" is_a: HP:0000591 ! Abnormality of the sclera [Term] id: HP:0000593 name: Abnormality of the anterior chamber 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:C0266546 "Anterior chamber anomalies" is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0000594 name: Shallow anterior chamber def: "Reduced depth of the anterior chamber, i.e., the anteroposterior distance between the cornea and the iris is decreased." [HPO:probinson] xref: UMLS:C0860573 "Shallow anterior chamber" is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0000597 name: Ophthalmoparesis alt_id: HP:0007701 alt_id: HP:0008044 def: "Ophthalmoplegia is a paralysis or weakness of one or more of the muscles that control eye movement." [HPO:curators] synonym: "Extraocular muscle palsy" EXACT [] synonym: "Extraocular muscle paralysis" EXACT [] xref: UMLS:C0751401 "Ophthalmoparesis" is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000598 name: Abnormality of the ear def: "An abnormality of the `ear` (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 [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000599 name: Abnormality of the frontal hairline 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 is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0000601 name: Hypotelorism alt_id: HP:0007877 def: "Interpupillary distance less than 2 SD 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 "Ocular hypotelorism" is_a: HP:0100886 ! Abnormality of globe location [Term] id: HP:0000602 name: Ophthalmoplegia xref: MeSH:D009886 "Ophthalmoplegia" xref: UMLS:C0029089 "Ophthalmoplegia" is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0000603 name: Central scotoma def: "An area of depressed vision located at the point of fixation and that interferes with central vision." [HPO:probinson] synonym: "Central scotomata" EXACT [] xref: UMLS:C0152191 "Central scotoma" is_a: HP:0000575 ! Scotoma [Term] id: HP:0000605 name: Supranuclear gaze palsy def: "A supranuclear gaze palsy is an inability to look in a particular direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal." [HPO:probinson] synonym: "Supranuclear gaze paralysis" EXACT [] xref: UMLS:C1720037 "Supranuclear gaze palsy" is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0000606 name: Abnormality of the periorbital region def: "An abnormality of the region situated around the orbit of the eye." [HPO:probinson] is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000607 name: Periorbital wrinkles synonym: "Excess periorbital skin wrinkling" EXACT [] synonym: "Periorbital wrinkling" EXACT [] xref: UMLS:C1844605 "Periorbital wrinkles" is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0100678 ! Premature skin wrinkling [Term] id: HP:0000608 name: Macular degeneration alt_id: HP:0007694 def: "Degeneration of the `macula lutea` (FMA:58637)." [HPO:probinson] synonym: "Pigmented macular degeneration" EXACT [] xref: MeSH:D008268 "Macular degeneration" xref: UMLS:C0024437 "Macular degeneration" is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0000609 name: Optic nerve hypoplasia alt_id: HP:0007273 synonym: "Hypoplastic optic nerves" EXACT [] xref: UMLS:C0338502 "Optic nerve hypoplasia" is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve [Term] id: HP:0000610 name: Abnormality of the choroid def: "An abnormality of the `choroid` (FMA:58298)." [HPO:probinson] synonym: "Choroid disease" RELATED [] is_a: HP:0000553 ! Abnormality of the uvea is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0000611 name: Choroid coloboma alt_id: HP:0007784 def: "A congenital defect in which a portion of choroid is not developed and the corresponding region of the retina is atrophic." [HPO:probinson] synonym: "Choroidal coloboma" EXACT [] synonym: "Coloboma of choroid " EXACT [] xref: UMLS:C0239054 "CHOROID COLOBOMA" is_a: HP:0000589 ! Coloboma is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0000612 name: Iris coloboma def: "A `coloboma` (HP:0000589) of the `iris` (FMA:58235)." [HPO:probinson, pmid:19369671] synonym: "Coloboma of iris" EXACT [] synonym: "Coloboma of the iris" EXACT [] synonym: "Keyhole iris" EXACT [] xref: UMLS:C0266551 "IRIS COLOBOMA" is_a: HP:0000525 ! Abnormality of the iris is_a: HP:0000589 ! Coloboma [Term] id: HP:0000613 name: Photophobia def: "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:probinson] xref: MeSH:D020795 "Photophobia" xref: UMLS:C0085636 "Photophobia" is_a: HP:0000504 ! Abnormality of vision is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000614 name: Abnormality of the nasolacrimal system def: "An abnormality of the nasolacrimal drainage system, which serves as a conduit for tear flow from the external eye to the nasal cavity." [DDD:ncarter] comment: The nasolacrimal system consists of the puncta, canaliculi, lacrimal sac, and nasolacrimal duct. is_a: HP:0000521 ! Abnormality of tear glands or tear production [Term] id: HP:0000615 name: Abnormality of the pupil alt_id: HP:0008018 def: "An abnormality of the `pupil` (FMA:58252)." [HPO:probinson] synonym: "Pupillary abnormalities" EXACT [] xref: UMLS:C0154936 "Pupillary abnormalities" is_a: HP:0000525 ! Abnormality of the iris [Term] id: HP:0000616 name: Miosis def: "Abnormal (non-physiological) constriction of the pupil." [HPO:probinson] xref: MeSH:D015877 "Miosis" xref: UMLS:C0728710 "Miosis" is_a: HP:0000615 ! Abnormality of the pupil [Term] id: HP:0000617 name: Abnormality of ocular smooth pursuit 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: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. Slow-pursuit eye movements are involved in tracking a slowly moving target after the saccadic system has placed the image of the target on the fovea. synonym: "Abnormal smooth pursuits" EXACT [] synonym: "Disrupted ocular pursuit movements" EXACT [] synonym: "Impaired smooth pursuit ocular movements" EXACT [] synonym: "Irregular visual pursuit movements" EXACT [] xref: UMLS:C1836393 "Disrupted ocular pursuit movements" is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000618 name: Blindness def: "Blindness is the condition of lacking visual perception due to physiological or neurological factors. Various scales have been developed to describe the extent of vision loss and define blindness. Total blindness is the complete lack of form and visual light perception and is clinically recorded as NLP (no light perception). Blindness is frequently used to describe severe visual impairment with residual vision. Those described as having only light perception have no more sight than the ability to tell light from dark and the general direction of a light source." [DDD:gblack] xref: MeSH:D001766 "Blindness" xref: UMLS:C0376288 "Amaurosis" xref: UMLS:C0456909 "Blindness" is_a: HP:0000505 ! Visual impairment [Term] id: HP:0000619 name: Impaired convergence xref: UMLS:C1846466 "Impaired convergence" is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000620 name: Dacrocystitis def: "Inflammation of the nasolacrimal sac." [HPO:probinson] comment: Dacrocystitis is frequently caused by nasolacrimal duct obstruction or infection, which often results from stagnation of tears in a pathologically closed lacrimal drainage system. xref: UMLS:C0010930 "DACROCYSTITIS" is_a: HP:0000614 ! Abnormality of the nasolacrimal system [Term] id: HP:0000621 name: Entropion def: "An inward turning (inversion) of the eyelid margin." [pmid:19125427] comment: The inward turned eyelid margin increases the potential for mechanical irritation of the eye by eyelashes. Entropion is to be distinguished from epiblepharon. xref: MeSH:D004774 "Entropion" xref: UMLS:C0014390 "Entropion" is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000622 name: Blurred vision alt_id: HP:0007723 def: "Lack of sharpness of vision resulting in the inability to see fine detail." [HPO:probinson] comment: This is a very nonspecific term and it is preferable to describe the correlates of blurred vision with the corresponding terms if possible. xref: UMLS:C0344232 "Blurred vision" is_a: HP:0000505 ! Visual impairment [Term] id: HP:0000623 name: Supranuclear ophthalmoplegia xref: UMLS:C1408507 "Supranuclear ophthalmoplegia" is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000625 name: Cleft eyelid def: "A short discontinuity of the margin of the lower or upper eyelid." [pmid:19125427] comment: The lateral segment of the lower eyelid is most commonly involved. As the milder forms of this finding are clearly subjective and no boundary of subjective and objective is defined, the term is considered subjective. The term eyelid coloboma has been replaced because the word coloboma should be used only for defects at the site of fusion of embryologic structures, which is not the case here. Modifiers to designate the location of the cleft may be added, such as lower and lateral. synonym: "Eyelid coloboma" EXACT [] synonym: "Notched eyelid." EXACT [] is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0000589 ! Coloboma [Term] id: HP:0000627 name: Posterior embryotoxon alt_id: HP:0100740 def: "A posterior embryotoxon is the presence of a prominent and anteriorly displaced `line of Schwalbe` (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. synonym: "Embryotoxon" EXACT [] xref: UMLS:C0546967 "Posterior embryotoxon" is_a: HP:0008048 ! Abnormality of the line of Schwalbe [Term] id: HP:0000629 name: Periorbital fullness def: "Increase in periorbital soft tissue." [HPO:sdoelken] synonym: "Periorbital puffiness" EXACT [] xref: UMLS:C1858036 "Periorbital fullness" is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0000630 name: Abnormality of retinal arteries synonym: "Retinal arterial abnormality" EXACT [] is_a: HP:0008046 ! Abnormality of the retinal vasculature is_a: HP:0011004 ! Abnormality of the systemic arterial tree [Term] id: HP:0000631 name: Retinal arterial tortuosity def: "The presence of an increased number of twists and turns of the retinal artery." [HPO:probinson] xref: UMLS:C0423401 "Retinal arterial tortuosity" is_a: HP:0000630 ! Abnormality of retinal arteries is_a: HP:0005116 ! Arterial tortuosity [Term] id: HP:0000632 name: Lacrimation abnormality is_a: HP:0000521 ! Abnormality of tear glands or tear production [Term] id: HP:0000633 name: Decreased lacrimation def: "Abnormally decreased lacrimation, that is, reduced ability to produce tears." [HPO:probinson] xref: UMLS:C0235857 "DECREASED LACRIMATION" is_a: HP:0000632 ! Lacrimation abnormality [Term] id: HP:0000634 name: Impaired ocular abduction def: "An impaired ability of the eye to move in the outward direction (towards the side of the head)." [HPO:probinson] xref: UMLS:C1846462 "Impaired ocular abduction" is_a: HP:0011347 ! Abnormality of ocular abduction [Term] id: HP:0000635 name: Blue irides def: "A markedly blue coloration of the iris." [HPO:probinson] synonym: "Blue eyes" EXACT [] xref: UMLS:C0578626 "Blue irides" is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0000636 name: Upper eyelid coloboma def: "A short discontinuity of the margin of the `upper eyelid` (FMA:54439)." [HPO:probinson] synonym: "Upper eyelid colobomas" EXACT [] xref: UMLS:C1863872 "Upper eyelid colobomas" is_a: HP:0000625 ! Cleft eyelid [Term] id: HP:0000637 name: Long palpebral fissure alt_id: HP:0007904 def: "Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures." [pmid:19125427] synonym: "Wide palpebral fissures" EXACT [] xref: UMLS:C1849340 "Wide palpebral fissures" is_a: HP:0200007 ! Abnormal size of the palpebral fissures [Term] id: HP:0000639 name: Nystagmus def: "Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms." [HPO:curators] xref: UMLS:C1963184 "NYSTAGMUS" is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000640 name: Gaze-evoked nystagmus def: "Nystagmus made apparent by looking to the right or to the left." [HPO:curators] is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000641 name: Dysmetric saccades def: "The controller signal for saccadic eye movements has two components: the pulse that moves the eye rapidly from one point to the next, and the step that holds the eye in the new position. When both the pulse and the step are not the correct size, a dysmetric refixation eye movement results." [HPO:probinson, pmid:572501] xref: UMLS:C1836392 "Dysmetric saccades" is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000642 name: Red-green dyschromatopsia alt_id: HP:0007960 def: "Difficulty with discriminating red and green hues." [DDD:gblack] synonym: "Dyschromatopsia with red-green confusion" EXACT [] xref: UMLS:C1833800 "Red-green dyschromatopsia" is_a: HP:0007641 ! Dyschromatopsia [Term] id: HP:0000643 name: Blepharospasm alt_id: HP:0007907 def: "A focal dystonia that affects the muscles of the eyelids and brow, associated with involuntary recurrent spasm of both eyelids." [HPO:probinson] xref: MeSH:D001764 "Blepharospasm" xref: UMLS:C0005747 "Blepharospasm" is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0012179 ! Craniofacial dystonia [Term] id: HP:0000646 name: Amblyopia def: "Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways. 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: MeSH:D000550 "Amblyopia" xref: UMLS:C0002418 "Amblyopia" is_a: HP:0000505 ! Visual impairment [Term] id: HP:0000647 name: Sclerocornea def: "A congenital anomaly in which a part or the whole of the cornea acquires the characteristics of sclera, resulting in clouding of the cornea." [HPO:probinson] xref: UMLS:C1853235 "SCLEROCORNEA" is_a: HP:0007957 ! Reduction of corneal clarity [Term] id: HP:0000648 name: Optic atrophy alt_id: HP:0007751 alt_id: HP:0007855 def: "`Atrophy` (MPATH:127) of the `optic nerve` (FMA:50863)." [HPO:probinson] synonym: "Optic nerve atrophy" EXACT [] synonym: "Optic-nerve degeneration" EXACT [] xref: MeSH:D009896 "Optic Atrophy" xref: UMLS:C0029124 "Optic Atrophy" is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0000649 name: Abnormality of vision evoked potentials synonym: "Abnormal visual evoked potential" EXACT [] synonym: "Abnormal visual evoked potentials" EXACT [] synonym: "Abnormal visual evoked responses" EXACT [] synonym: "Abnormal visual-evoked potentials" EXACT [] synonym: "VEP abnormalities" EXACT [] xref: UMLS:C0522214 "Abnormal visual evoked potentials" is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000650 name: Reduced amplitude of pattern visual evoked potentials is_a: HP:0000649 ! Abnormality of vision evoked potentials [Term] id: HP:0000651 name: Diplopia def: "Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision." [HPO:probinson] synonym: "Double vision" EXACT [] xref: MeSH:D004172 "Diplopia" xref: UMLS:C0012569 "Diplopia" is_a: HP:0011514 ! Abnormality of binocular vision [Term] id: HP:0000652 name: Lower eyelid coloboma alt_id: HP:0007909 def: "A short discontinuity of the margin of the `lower eyelid` (FMA:54442)." [HPO:probinson] synonym: "Coloboma of lower eyelid" EXACT [] synonym: "Lower lid coloboma" EXACT [] xref: UMLS:C1837826 "Lower eyelid coloboma" is_a: HP:0000625 ! Cleft eyelid [Term] id: HP:0000653 name: Sparse eyelashes alt_id: HP:0002284 alt_id: HP:0004519 alt_id: HP:0004531 alt_id: HP:0004555 alt_id: HP:0004777 alt_id: HP:0007853 def: "Decreased density/number of eyelashes." [pmid:19125427] synonym: "Partial to total absence of eyelashes" EXACT [] synonym: "Scant eyelashes" EXACT [] synonym: "Scant-absent eyelashes" EXACT [] synonym: "Scanty eyelashes" EXACT [] synonym: "Sparse/absent eyebrows" EXACT [] synonym: "Sparse/absent eyelashes" EXACT [] synonym: "Thin, sparse eyelashes" EXACT [] xref: UMLS:C1835682 "Scant eyelashes" xref: UMLS:C1843300 "Sparse eyelashes" is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0000654 name: Decreased electroretinogram (ERG) amplitude alt_id: HP:0007636 alt_id: HP:0007689 alt_id: HP:0007845 def: "Descreased amplitude of eletrical response upon electroretinography." [HPO:probinson] synonym: "Decreased amplitudes on flash visual electroretinogram" EXACT [] synonym: "Decreased electroretinogram" EXACT [] synonym: "Decreased electroretinogram response" EXACT [] synonym: "Flattened or absent electroretinogram" EXACT [] synonym: "Reduced electroretinogram" EXACT [] synonym: "Reduced electroretinogram (ERG)" EXACT [] synonym: "Reduced or abolished electroretinogram" EXACT [] is_a: HP:0000512 ! Abnormal electroretinogram [Term] id: HP:0000655 name: Vitreoretinal degeneration xref: UMLS:C0344290 "Vitreoretinal degeneration" is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0000656 name: Ectropion def: "An outward turning (eversion) or rotation of the eyelid margin." [pmid:19125427] comment: Ectropion is frequently associated wit overexposure of the palpebral and scleral conjunctiva and cornea. It usually involves the lower eyelid. xref: MeSH:D004483 "Ectropion" xref: UMLS:C0013592 "Ectropion" is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000657 name: Oculomotor apraxia alt_id: HP:0000628 alt_id: HP:0007764 def: "Inability to follow objects visually with compensatory head movements, decreased smooth pursuit, and cancellation of the vestibulo-ocular reflex." [HPO:probinson, pmid:20615230] comment: Oculomotor apraxia leads defective or absent horizontal voluntary eye movements with head thrusting to look at objects to the side as well as jerky, abnormal eye movements. synonym: "Defective or absent horizontal voluntary eye movements" RELATED [] synonym: "Ocular motor apraxia" EXACT [] xref: UMLS:C0497202 "Abnormal eye movements" is_a: HP:0000496 ! Abnormality of eye movement is_a: HP:0002186 ! Apraxia [Term] id: HP:0000658 name: Eyelid apraxia xref: UMLS:C1142448 "Eyelid apraxia" is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0002186 ! Apraxia [Term] id: HP:0000659 name: Peters anomaly def: "A form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. Peters anomaly is characterized by central, paracentral, or complete corneal opacity." [HPO:probinson] xref: UMLS:C0344559 "Peter's anomaly" is_a: HP:0007700 ! Anterior segment dysgenesis [Term] id: HP:0000660 name: Lipemia retinalis def: "A creamy appearance of the retinal blood vessels that occurs when the concentration of lipids in the blood are extremely increased, with pale pink to milky white retinal vessels and altered pale reflexes from choroidal vasculature." [pmid:10379021, pmid:16120862] comment: Lipemia retinalis is thought to be directly correlated with the serum triglyceride level; typically, the retinal findings do not occur until the triglyceride level reaches 2500 mg per deciliter (28.2 mmol per liter). xref: UMLS:C0339477 "Lipaemia retinalis" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000661 name: Palpebral fissure narrowing on adduction is_a: HP:0000581 ! Blepharophimosis [Term] id: HP:0000662 name: Night blindness alt_id: HP:0007653 alt_id: HP:0007725 alt_id: HP:0007865 alt_id: HP:0007895 def: "Inability to see well at night or in poor light." [HPO:probinson] synonym: "Difficulties with night vision" RELATED [] synonym: "Nyctalopia" EXACT [] xref: MeSH:D009755 "Night Blindness" xref: UMLS:C0028077 "Night Blindness" is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000663 name: Enophthalmos xref: MeSH:D015841 "Enophthalmos" xref: UMLS:C0014306 "Enophthalmos" is_a: HP:0000490 ! Deeply set eye [Term] id: HP:0000664 name: Synophrys alt_id: HP:0002210 def: "Meeting of the medial `eyebrows` (FMA:54237) in the midline." [pmid:19125427] synonym: "Synophris" EXACT [] synonym: "Unibrow" EXACT [] xref: UMLS:C0431447 "Synophrys" is_a: HP:0002219 ! Facial hypertrichosis is_a: HP:0010747 ! Medial flaring of the eyebrow [Term] id: HP:0000666 name: Horizontal nystagmus def: "Nystagmus consisting of horizontal to-and-fro eye movements." [HPO:probinson] synonym: "Nystagmus, horizontal" EXACT [] xref: UMLS:C0271385 "Horizontal Nystagmus" is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000667 name: Phthisis bulbi def: "Atrophy of the eyeball with blindness and decreased intraocular pressure due to end-stage intraocular disease." [HPO:curators] comment: Phthisis bulbi refers to atrophy and degeneration of a blind eye. xref: UMLS:C0271007 "Phthisis bulbi" is_a: HP:0000478 ! Abnormality of the eye [Term] id: HP:0000668 name: Hypodontia 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 "Hypodontia" is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0000670 name: Carious teeth alt_id: HP:0006295 alt_id: HP:0006306 def: "Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries." [HPO:probinson] comment: It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution. synonym: "Caries" EXACT [] synonym: "Dental caries" EXACT [] synonym: "Early dental caries" EXACT [] synonym: "Frequent caries" EXACT [] xref: MeSH:D003731 "Dental Caries" xref: UMLS:C1867882 "Early dental caries" is_a: HP:0011061 ! Abnormality of dental structure [Term] id: HP:0000674 name: Anodontia alt_id: HP:0006484 def: "The congenital `absence` (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: MeSH:D000848 "Anodontia" xref: UMLS:C1504306 "Anodontia" is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0000675 name: Macrodontia of permanent maxillary central incisor def: "`Increased size` (PATO:0000586) of the `maxillary central secondary incisor tooth` (FMA:55722)." [HPO:ibailleulforestier] synonym: "Long maxillary central incisors" EXACT [] synonym: "Prominent upper incisors" EXACT [] synonym: "Prominent, protruding upper incisors" EXACT [] is_a: HP:0011081 ! Incisor macrodontia [Term] id: HP:0000676 name: Abnormality of the incisor alt_id: HP:0006340 def: "An abnormality of the `Incisor tooth` (FMA:12823)." [HPO:probinson] is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0000677 name: Oligodontia 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 "Hypodontia" is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0000678 name: Dental crowding def: "Overlapping teeth within an alveolar ridge." [pmid:19125428] synonym: "Crowded teeth" EXACT [] synonym: "Dental overcrowding" EXACT [] xref: UMLS:C1847525 "Dental crowding" is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000679 name: Taurodontia 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:C1848911 "Taurodontia" is_a: HP:0006479 ! Abnormality of the dental pulp is_a: HP:0006486 ! Abnormality of the dental root is_a: HP:0011071 ! Abnormality of permanent molar morphology [Term] id: HP:0000680 name: Delayed eruption of primary teeth 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:C1867100 "Delayed primary teeth eruption" is_a: HP:0000684 ! Delayed eruption of teeth is_a: HP:0006481 ! Abnormality of primary teeth [Term] id: HP:0000682 name: Abnormality of dental enamel alt_id: HP:0006322 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 [] is_a: HP:0011061 ! Abnormality of dental structure [Term] id: HP:0000683 name: Grayish enamel def: "A `grey` (PATO:0000950) `discoloration` (PATO:0000331) of the `dental enamel` (FMA:55629)." [HPO:ibailleulforestier] comment: Grey enamel may be seen in dentinogenesis imperfecta, but dentinogenesis imperfecta should be coded separately if present. synonym: "Greyish enamel" EXACT [] xref: UMLS:C1854783 "Grayish enamel" is_a: HP:0000682 ! Abnormality of dental enamel is_a: HP:0011073 ! Abnormality of dental color [Term] id: HP:0000684 name: Delayed eruption of teeth alt_id: HP:0000686 alt_id: HP:0006294 alt_id: HP:0006314 alt_id: HP:0006328 def: "`Delayed` (PATO:0000502) `tooth eruption` (MeSH:D014078), which can be defined as tooth eruption more than 2 SD beyond the mean eruption age." [HPO:ibailleulforestier, pmid:19125428] comment: This term should not be used in a patient with Gingival overgrowth. There are established norms for the timing of eruption in both deciduous and permanent teeth [Garn and Rohmann, [1966]; Lunt and Law, [1974]; McDonald et al. [2004]]. Eruption is defined by the appearance of a tooth that has pierced the gum. synonym: "Delayed dental development" EXACT [] synonym: "Delayed dental eruption" EXACT [] synonym: "Delayed eruption" EXACT [] synonym: "Delayed teeth eruption" EXACT [] synonym: "Delayed tooth eruption" EXACT [] synonym: "Eruption, delayed" EXACT [] synonym: "Late eruption of teeth" EXACT [] synonym: "Late tooth eruption" EXACT [] xref: UMLS:C1866235 "Delayed dental eruption" is_a: HP:0006292 ! Abnormality of dental eruption [Term] id: HP:0000685 name: Hypoplasia of teeth alt_id: HP:0000688 alt_id: HP:0006281 alt_id: HP:0006307 def: "Developmental hypoplasia of `teeth` (FMA:12516)." [HPO:ibailleulforestier] synonym: "Hypoplastic teeth" EXACT [] xref: UMLS:C1855437 "Hypoplastic teeth" is_a: HP:0011061 ! Abnormality of dental structure [Term] id: HP:0000687 name: Widely spaced teeth def: "Increased spaces (diastemata) between most of the teeth in the same dental arch." [pmid:19125428] comment: Wide spacing can be secondary to increased room by an unusually large dental arch, microdontia or mixed primary and secondary dentition. It should be carefully noted that slight spacing between the primary teeth is normal, so experience in evaluation is important in determining this feature. This descriptor must be distinguished from Diastema. synonym: "Multiple diastemata" EXACT [] synonym: "Wide-spaced teeth" EXACT [] synonym: "Widely-spaced teeth" EXACT [] xref: UMLS:C1855414 "Widely spaced teeth" is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000689 name: Dental malocclusion def: "Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns." [HPO:curators] synonym: "Malocclusion" EXACT [] xref: MeSH:D008310 "Malocclusion" xref: UMLS:C0024636 "Dental malocclusion" is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000690 name: Agenesis of maxillary lateral incisor def: "`Agenesis` (MPATH:57) of one or more maxillary lateral incisor, comprising the `maxillary lateral primary incisor` (FMA84217) and `maxillary lateral secondary incisor` (FMA:55724)." [HPO:ibailleulforestier] synonym: "Absent upper lateral incisors" EXACT [] xref: UMLS:C1849950 "Absent upper lateral incisors" is_a: HP:0006485 ! Agenesis of incisor [Term] id: HP:0000691 name: Microdontia def: "`Decreased size` (PATO:0000587) of the `teeth` (FMA:12516), which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth." [HPO:ibailleulforestier, pmid:19125428] comment: Standard reference has means and standard deviations by gender [Moyers et al, 1976]. It is easy to measure the width of teeth, for which reason the definition of microdontia can be made with reference to the width of the tooth. However, microdontia means that the overall size of the tooth is decreased. In microdontia, the gaps between the teeth, particularly the anterior upper and lower teeth, are increased, creating diastemata. This should be assessed and coded separately. synonym: "Small teeth" EXACT [] xref: UMLS:C0240340 "Microdontia" is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0000692 name: Misalignment of teeth alt_id: HP:0000693 alt_id: HP:0001569 alt_id: HP:0006303 alt_id: HP:0006478 def: "Abnormal alignment, positioning, or spacing of the teeth, i.e., `misaligned` (PATO:0001654) `teeth` (FMA:12516)." [HPO:ibailleulforestier] synonym: "Abnormal dental position" EXACT [] synonym: "Abnormal teeth spacing" EXACT [] synonym: "Abnormality of teeth spacing" EXACT [] synonym: "Malaligned teeth" EXACT [] synonym: "Malposition of teeth" EXACT [] synonym: "Malpositioned teeth" EXACT [] xref: UMLS:C0155940 "Malpositioned teeth" is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0000694 name: Shell teeth def: "A type of dental dysplasia occurring in dentinogenesis imperfecta in which the pulp chambers are enlarged and there is a reduced amount of coronal dentin." [HPO:ibailleulforestier] xref: UMLS:C0206554 "Shell teeth" is_a: HP:0000703 ! Dentinogenesis imperfecta [Term] id: HP:0000695 name: Natal tooth def: "Erupted tooth or teeth at birth." [pmid:19125428] synonym: "Natal teeth" EXACT [] synonym: "Neonatal teeth" EXACT [] xref: MeSH:D009306 "Natal Teeth" xref: UMLS:C0027443 "Natal Teeth" is_a: HP:0006288 ! Advanced eruption of teeth [Term] id: HP:0000696 name: Delayed eruption of permanent teeth def: "`Delayed` (PATO:0000502) `tooth eruption` (MeSH:D014078) affecting the `secondary dentition` (FMA:55654)." [HPO:ibailleulforestier] synonym: "Delayed eruption of secondary teeth" EXACT [] synonym: "Delayed permanent dentition" EXACT [] xref: UMLS:C1859820 "Delayed permanent dentition" is_a: HP:0000684 ! Delayed eruption of teeth [Term] id: HP:0000698 name: Conical teeth def: "An abnormal `conical` (PATO:0002021) form of the `teeth` (FMA:12516)." [HPO:ibailleulforestier] xref: UMLS:C0266037 "Conical teeth" is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0000699 name: Diastema def: "Increased space between two adjacent teeth in the same dental arch." [pmid:19125428] comment: Usually there is contact between the lateral aspects of the permanent teeth, at their broadest point. Diastema can apply to any pair of teeth and the term should be modified by a descriptor of the involved teeth. This descriptor must be distinguished from Widely spaced teeth. xref: MeSH:D003970 "Diastema" xref: UMLS:C1014152 "Diastema" is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000700 name: Periapical radiolucency def: "Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root)." [HPO:ibailleulforestier] comment: Periapical radiolucencies can be seen with periapical granuloma, cysts, ameloblastoma, odotogenic keratatoycsts, and other lesions. synonym: "Periapical radiolucencies" RELATED [] xref: UMLS:C1852169 "Periapical radiolucencies" is_a: HP:0000164 ! Abnormality of the teeth [Term] id: HP:0000703 name: Dentinogenesis imperfecta def: "`Developmental dysplasia` of `dentin` (FMA:55628)." [HPO:ibailleulforestier] comment: This term refers to the phenotypic feature of dentinogenesis imperfecta rather than to the disease entity. xref: MeSH:D003811 "Dentinogenesis imperfecta" xref: UMLS:C0011436 "Dentinogenesis Imperfecta" is_a: HP:0010299 ! Abnormality of dentin [Term] id: HP:0000704 name: Periodontitis alt_id: HP:0000165 alt_id: HP:0006301 def: "`Inflammation` (MPATH:212) of the `periodontium` (FMA:56665)." [HPO:ibailleulforestier] synonym: "Periodontal disease" BROAD [] xref: MeSH:D010518 "Periodontitis" xref: UMLS:C0031099 "Periodontitis" is_a: HP:0000164 ! Abnormality of the teeth is_a: HP:0000168 ! Abnormality of the gingiva [Term] id: HP:0000705 name: Amelogenesis imperfecta alt_id: HP:0006284 alt_id: HP:0006310 alt_id: HP:0006325 alt_id: HP:0006327 alt_id: HP:0006331 def: "A `developmental dysplasia` (MPATH:64) of the `dental enamel` (FMA:55629)." [HPO:ibailleulforestier, pmid:18499550] comment: Amelogenesis imperfecta (AI) is a term for a clinically and genetically heterogeneous group of diseases that affect the dental enamel, occasionally in conjunction with other dental, oral and extraoral tissues. This term has often been used to describe the phenotype associated with AI, but for new annotations it is recommended to describe the individual manifestations. xref: MeSH:D000567 "Amelogenesis imperfecta" xref: UMLS:C0002452 "Amelogenesis Imperfecta" is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0000706 name: Unerupted tooth def: "The presence of one or more embedded tooth germs which have failed to erupt." [HPO:ibailleulforestier] xref: MeSH:D014097 "Tooth, Unerupted" xref: UMLS:C0040458 "Teeth, Unerupted" is_a: HP:0006292 ! Abnormality of dental eruption [Term] id: HP:0000707 name: Abnormality of the nervous system alt_id: HP:0001333 alt_id: HP:0006987 def: "An abnormality of the `nervous system` (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 [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000708 name: Behavioural/Psychiatric Abnormality alt_id: HP:0000715 alt_id: HP:0002368 alt_id: HP:0002456 def: "An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities." [HPO:probinson] synonym: "Behavioral changes" EXACT [] synonym: "Behavioral disorders" EXACT [] synonym: "Behavioral disturbances" EXACT [] synonym: "Behavioral problems" EXACT [] synonym: "Behavioral symptoms" RELATED [] synonym: "Behavioral/psychiatric abnormalities" EXACT [] synonym: "Psychiatric disorders" EXACT [] synonym: "Psychiatric disturbances" EXACT [] xref: UMLS:C1856060 "Psychiatric disturbances" is_a: HP:0011446 ! Abnormality of higher mental function [Term] id: HP:0000709 name: Psychosis def: "A condition characterized by changes of personality and thought patterns often accompanied by hallucinations and delusional beliefs." [HPO:curators] xref: UMLS:C0033975 "Psychotic" is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000710 name: Hyperorality def: "A tendency or compulsion to examine objects by mouth." [HPO:sdoelken] synonym: "Hyperoralia" EXACT [] xref: UMLS:C1843802 "Hyperorality" is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000711 name: Restlessness xref: UMLS:C0085631 "Restlessness" is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000712 name: Emotional lability alt_id: HP:0008766 synonym: "Emotional instability" EXACT [] xref: UMLS:C0085633 "Mood change" is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior [Term] id: HP:0000713 name: Agitation xref: UMLS:C1963060 "Agitation" is_a: HP:0000711 ! Restlessness [Term] id: HP:0000716 name: Depression def: "A condition characterized by pervasive dysphoric mood, loss of interests, and inability to experience pleasure." [HPO:curators] synonym: "Depressive disorder" RELATED [] xref: MeSH:D003863 "Depression" xref: UMLS:C0344315 "Depressed" is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000717 name: Autism def: "Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior." [DDD:hvfirth] xref: UMLS:C0004352 "Autism" is_a: HP:0000729 ! Autism spectrum disorder [Term] id: HP:0000718 name: Aggressive behavior def: "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] synonym: "Aggression" EXACT [] synonym: "Aggressive behaviour" EXACT [] synonym: "Aggressiveness" EXACT [] xref: MeSH:D000374 "Aggression" is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior [Term] id: HP:0000719 name: Inappropriate behavior xref: UMLS:C0233522 "Inappropriate behavior" is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000720 name: Mood swings def: "An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels." [HPO:curators] xref: UMLS:C0085633 "Mood change" is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior [Term] id: HP:0000721 name: Lack of spontaneous play is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000722 name: Obsessive-compulsive disorder 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: MeSH:D009771 "Obsessive-Compulsive Disorder" xref: UMLS:C0028768 "Obsessive-Compulsive Disorder" is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000723 name: Restrictive behavior def: "Behavior characterized by an abnormal limitation to few interests and activities." [HPO:probinson] synonym: "Restrictive behaviour" EXACT [] is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000725 name: Psychotic episodes xref: UMLS:C0338614 "Psychotic episodes" is_a: HP:0000709 ! Psychosis [Term] id: HP:0000726 name: Dementia alt_id: HP:0002274 alt_id: HP:0007122 alt_id: HP:0007150 alt_id: HP:0007283 def: "A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior." [HPO:probinson] synonym: "Dementia, progressive" EXACT [] synonym: "Progressive dementia" EXACT [] xref: MeSH:D003704 "Dementia" xref: UMLS:C0497327 "Dementia" is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0000727 name: Frontal lobe dementia xref: UMLS:C1846712 "Frontal lobe dementia" is_a: HP:0000726 ! Dementia [Term] id: HP:0000728 name: Impaired ability to form peer relationships is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000729 name: Autism spectrum disorder def: "A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV)." [DSM-IV:299.00, HPO:probinson] comment: This term can be used to refer to autism spectrum disorder as a phenotypic feature that can be a component of a disease. Autism spectrum disorder range from a severe form, called autistic disorder, to a milder form, Asperger syndrome. synonym: "Pervasive developmental disorder" EXACT [] xref: UMLS:C0524528 "Pervasive Developmental Disorder NOS" is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000732 name: Inflexible adherence to routines or rituals is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000733 name: Stereotypic behavior alt_id: HP:0008758 alt_id: HP:0008759 def: "A repetitive behaviour that does not serve an observable goal. In general the movements are not aimed at the environment, but at the person itself. Stereotypical behaviour is seen especially in children with sensory, intellectual and/or cognitive handicaps." [HPO:probinson] comment: An abnormality of behavior characterized by one or more stereotyped and restricted patterns of behavior such as inflexible adherence to specific, nonfunctional routines or rituals, stereotyped and repetitive motor mannerisms (e.g., hand or finger flapping or twisting, or complex whole-body movements), or persistent preoccupation with parts of objects. synonym: "Perseverative behavior" EXACT [] synonym: "Stereotyped behavior" EXACT [] synonym: "Stereotyped, repetitive behaviour" EXACT [] synonym: "Stereotypic behaviors" EXACT [] synonym: "Stereotypical motor behaviors" EXACT [] synonym: "Stereotypy" EXACT [] synonym: "Sterotyped behavior" EXACT [] xref: MeSH:D013239 "Stereotypic behavior" xref: UMLS:C1843368 "Perseverative behavior" xref: UMLS:C1845867 "Stereotypical motor behaviors" xref: UMLS:C1846041 "Stereotypic behavior" is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000734 name: Disinhibition def: "A lack of restraint manifested in several ways, including disregard for social conventions, impulsivity, and poor risk assessment." [HPO:sdoelken] comment: Disinhibition affects motor, instinctual, emotional, cognitive and perceptual aspects with signs and symptoms similar to the diagnostic criteria for mania. Hypersexuality, hyperphagia, and aggressive outbursts are indicative of disinhibited instinctual drives. xref: UMLS:C0424296 "Disinhibition" is_a: HP:0000719 ! Inappropriate behavior [Term] id: HP:0000735 name: Impaired social interactions def: "Difficulty in social interactions related to an impairment of characteristics such as eye contact, smiling, appropriate facial expressions, and body postures and characterized by difficulty in forming peer relationships and forming friendships." [HPO:probinson] synonym: "Impaired social interaction" EXACT [] synonym: "Poor social interactions" EXACT [] xref: UMLS:C1839794 "Poor social interactions" is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000736 name: Short attention span def: "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder." [HPO:curators] synonym: "Poor attention span" EXACT [] xref: UMLS:C0262630 "Short attention span" is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000737 name: Irritability xref: UMLS:C0022107 "Irritability" is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000738 name: Hallucinations def: "Perceptions in a conscious and awake state in the absence of external stimuli which have qualities of real perception, in that they are vivid, substantial, and located in external objective space." [HPO:sdoelken] synonym: "Hallucination" EXACT [] xref: MeSH:D006212 "Hallucinations" xref: UMLS:C0018524 "Hallucinations" is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000739 name: Anxiety def: "Feeling or dread, apprehension, and impending disaster." [HPO:probinson] synonym: "Anxiety disease" RELATED [] xref: MeSH:D001007 "Anxiety" xref: UMLS:C0860603 "anxiety" is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior [Term] id: HP:0000740 name: Anxiety (with pheochromocytoma) is_a: HP:0000739 ! Anxiety [Term] id: HP:0000741 name: Apathy def: "Lack of emotion or emotional expression; a disorder of motivation that persists over time." [MeSH:D057565] xref: MeSH:D057565 "Apathy" xref: UMLS:C0085632 "Apathy" is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000742 name: Self-mutilation synonym: "Self mutilation" EXACT [] xref: MeSH:D012652 "Self mutilation" xref: UMLS:C2242914 "self-mutilation" is_a: HP:0100716 ! Self-injurious behavior [Term] id: HP:0000743 name: Frontal release signs alt_id: HP:0006911 def: "Primitive reflexes traditionally held to be a sign of disorders that affect the frontal lobes." [HPO:sdoelken] synonym: "Frontal release reflexes" EXACT [] xref: UMLS:C1836153 "Frontal release signs" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0000744 name: Low frustration tolerance xref: UMLS:C0548883 "Low frustration tolerance" is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000745 name: Lack of motivation is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000746 name: Delusions def: "A belief that is pathological and is held despite evidence to the contrary." [HPO:sdoelken] xref: MeSH:D003702 "Delusions" xref: UMLS:C0011253 "Delusions" is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000748 name: Inappropriate laughter xref: UMLS:C0424304 "Inappropriate laughter" is_a: HP:0000719 ! Inappropriate behavior [Term] id: HP:0000749 name: Paroxysmal bursts of laughter synonym: "Paroxysmal laughter" EXACT [] xref: UMLS:C1862914 "Paroxysmal laughter" is_a: HP:0000748 ! Inappropriate laughter [Term] id: HP:0000750 name: Delayed speech and language development alt_id: HP:0002116 alt_id: HP:0002117 alt_id: HP:0002336 alt_id: HP:0002399 alt_id: HP:0002498 alt_id: HP:0006936 alt_id: HP:0007004 alt_id: HP:0007127 alt_id: HP:0007170 alt_id: HP:0007172 def: "A degree of language development that is significantly below the norm for a child of a specified age." [HPO:probinson] comment: Language delay can be characterized by a failure to meet the developmental milestones for language development, an inability to follow directions, or slow or incomprehensible speech after the age of three years, as well as with severe problems with syntax or articulation. synonym: "Deficiency of speech development" EXACT [] synonym: "Delayed language development" EXACT [] synonym: "Delayed speech acquisition" EXACT [] synonym: "Delayed speech development" EXACT [] synonym: "Impaired speech and language development" EXACT [] synonym: "Impaired speech development" EXACT [] synonym: "Language delay" EXACT [] synonym: "Language delayed" EXACT [] synonym: "Language development deficit" EXACT [] synonym: "Late-onset speech development" EXACT [] synonym: "Poor language development" EXACT [] synonym: "Speech and language delay" EXACT [] synonym: "Speech and language difficulties" EXACT [] synonym: "Speech delay" EXACT [] synonym: "Speech difficulties" RELATED [] xref: UMLS:C0233715 "speech difficulties" xref: UMLS:C1836708 "Delayed speech development" xref: UMLS:C1837687 "Impaired language development" xref: UMLS:C1861134 "Late-onset speech development" is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0000751 name: Personality changes def: "An abnormal shift in patterns of thinking, acting, or feeling." [HPO:probinson] comment: This term refers to changes in personality that are perceived as being abnormal. It does not refer to the usual gradual personality changes that tend to accompany aging and certain life situations. synonym: "Personality change" EXACT [] xref: UMLS:C0240735 "Personality change" is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0000752 name: Hyperactivity alt_id: HP:0008764 synonym: "Hyperactive behavior" EXACT [] xref: UMLS:C0424295 "Hyper" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0000753 name: Autism with high cognitive abilities is_a: HP:0000729 ! Autism spectrum disorder [Term] id: HP:0000756 name: Agoraphobia def: "A type of anxiety disorder characterized by avoidance of public places, especially where crowds gather." [HPO:probinson] xref: MeSH:D000379 "Agoraphobia" xref: UMLS:C2188188 "agoraphobia" is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior [Term] id: HP:0000757 name: Lack of insight is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0000758 name: Impaired use of nonverbal behaviors def: "Reduced ability to use nonverbal behavior for communication, such as eye-to-eye gaze, facial expression, body posture, and gestures." [HPO:probinson] synonym: "Impaired use of nonverbal behaviours" EXACT [] is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000759 name: Abnormality of the peripheral nervous system alt_id: HP:0003483 def: "An abnormality of the `peripheral nervous system` (FMA:9903), which is composed of the nerves that lead to or branch off from the central nervous system." [HPO:probinson] comment: The peripheral nervous system is divided into autonomic and somatic components, which both include afferent (sensory) and efferent (motor) nerves. synonym: "Peripheral nervous system disease" RELATED [] xref: MeSH:D010523 "Peripheral Nervous System Diseases" is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0000762 name: Decreased nerve conduction velocity alt_id: HP:0000761 alt_id: HP:0007118 alt_id: HP:0007218 alt_id: HP:0007231 def: "A reduction in the speed at which electrical signals propagate along the axon of a `neuron` (FMA:54527)." [HPO:probinson] comment: Nerve conduction velocity is usually measured with surface electrodes placed on the skin over nerves at various locations. Following stimulation at one electrode, the speed at which the signal is propagated to other electrodes is recorded. Abnormal values may suggest demyelination, a conduction block, or axonopathy. synonym: "Abnormal nerve conduction" EXACT [] synonym: "Decreased nerve conduction velocities (NCV)" EXACT [] synonym: "Delayed nerve conduction velocity" EXACT [] synonym: "Nerve conduction abnormalities" EXACT [] synonym: "Reduced nerve conduction velocities" EXACT [] synonym: "Slow nerve conduction velocity" EXACT [] synonym: "Slowed nerve conduction velocities" EXACT [] xref: UMLS:C0234090 "Abnormal nerve conduction" is_a: HP:0003134 ! Abnormality of peripheral nerve conduction [Term] id: HP:0000763 name: Sensory neuropathy alt_id: HP:0003410 alt_id: HP:0006815 alt_id: HP:0007043 alt_id: HP:0007142 def: "Peripheral neuropathy affecting the sensory nerves." [HPO:curators] synonym: "Peripheral sensory neuropathy" EXACT [] xref: UMLS:C0151313 "Sensory neuropathy" is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0000764 name: Peripheral axonal degeneration alt_id: HP:0006787 alt_id: HP:0006876 alt_id: HP:0007304 def: "Progressive deterioration of peripheral axons." [HPO:probinson] comment: This finding is typically demonstrated by nerve biopsy. xref: UMLS:C1837496 "Axonal degeneration" is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0000765 name: Abnormality of the thorax def: "Any abnormality of the thorax (the region of the body formed by the sternum, the thoracic vertebrae and the ribs)." [HPO:curators] is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000766 name: Abnormality of the sternum alt_id: HP:0000780 alt_id: HP:0006586 alt_id: HP:0006594 alt_id: HP:0006605 alt_id: HP:0006630 alt_id: HP:0006708 def: "An anomaly of the `sternum` (FMA:7485), also known as the breastbone." [HPO:probinson] synonym: "Pectus carinatum or pectus excavatum" EXACT [] synonym: "Pectus deformities" EXACT [] synonym: "Pectus deformity" EXACT [] synonym: "Pectus excavatum or carinatum" EXACT [] synonym: "Pectus excavatum or pectus carinatum" EXACT [] synonym: "Pectus excavatum/carinatum" EXACT [] synonym: "Sternal anomalies" EXACT [] xref: UMLS:C1860493 "Sternal anomalies" is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000767 name: Pectus excavatum alt_id: HP:0006613 alt_id: HP:0006617 def: "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance." [HPO:curators] synonym: "Funnel chest" EXACT [] xref: MeSH:D005660 "Funnel Chest" xref: UMLS:C0016842 "Pectus Excavatum" is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0000768 name: Pectus carinatum alt_id: HP:0006639 def: "A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum." [HPO:curators] xref: UMLS:C0158731 "Pectus carinatum" is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0000769 name: Abnormality of the breast def: "An abnormality of the `breast` (FMA:9601)." [HPO:probinson] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000771 name: Gynecomastia alt_id: HP:0000770 def: "Abnormal development of large mammary glands in males resulting in breast enlargement." [HPO:probinson] synonym: "Gynaecomastia" EXACT [] xref: MeSH:D006177 "Gynecomastia" xref: UMLS:C1963120 "Gynecomastia" is_a: HP:0000769 ! Abnormality of the breast [Term] id: HP:0000772 name: Abnormality of the ribs alt_id: HP:0006618 synonym: "Rib abnormalities" EXACT [] synonym: "Rib anomalies" EXACT [] xref: UMLS:C0432172 "Rib anomalies" is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000773 name: Short ribs alt_id: HP:0000899 alt_id: HP:0000908 alt_id: HP:0009750 def: "Reduced rib length." [HPO:probinson] synonym: "Hypoplastic ribs" EXACT [] synonym: "Rib hypoplasia" EXACT [] xref: UMLS:C0426817 "Short ribs" xref: UMLS:C1868159 "Hypoplastic ribs" is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000774 name: Narrow chest alt_id: HP:0000909 alt_id: HP:0005252 alt_id: HP:0006588 def: "Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder." [HPO:probinson] synonym: "Low chest circumference" EXACT [] synonym: "Narrow shoulders" EXACT [] synonym: "Narrow thorax" EXACT [] synonym: "Reduced anterior-posterior chest diameter" EXACT [] xref: UMLS:C1843667 "Narrow chest" is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0000775 name: Abnormality of the diaphragm alt_id: HP:0005204 def: "Any abnormality of the `diaphragm` (FMA:13295)." [HPO:probinson] synonym: "Diaphragmatic defect" EXACT [] xref: UMLS:C1848873 "Diaphragmatic defect" is_a: HP:0001438 ! Abnormality of the abdomen is_a: HP:0012252 ! Abnormal respiratory system morphology [Term] id: HP:0000776 name: Congenital diaphragmatic hernia alt_id: HP:0006604 def: "The presence of a `hernia` (MPATH:75) of the `diaphragm` (FMA:13295) present at birth." [HPO:probinson] comment: Diaphragmatic hernia is the result of a developmental defect causing an abnormal opening in the diaphragm, through which abdominal organs (stomach, spleen, liver, and intestines) can protrude into the thoracic cavity. This usually causes respiratory distress in the newborn period. synonym: "Diaphragmatic hernia" EXACT [] xref: UMLS:C0235833 "Congenital diaphragmatic hernia" is_a: HP:0000775 ! Abnormality of the diaphragm is_a: HP:0100790 ! Hernia [Term] id: HP:0000777 name: Abnormality of the thymus 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:C0685891 "Thymic hypoplasia" is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0000778 name: Hypoplasia of the thymus def: "Underdevelopment of the `thymus` (FMA:9607)." [HPO:curators] synonym: "Thymus hypoplasia" EXACT [] xref: UMLS:C0685891 "Thymic hypoplasia" is_a: HP:0010515 ! Aplasia/Hypoplasia of the thymus [Term] id: HP:0000782 name: Abnormality of the scapula def: "Any abnormality of the `scapula` (FMA:13394), also known as the shoulder blade." [HPO:probinson] is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000786 name: Primary amenorrhea xref: UMLS:C0232939 "Primary amenorrhea" is_a: HP:0000141 ! Amenorrhea [Term] id: HP:0000787 name: Nephrolithiasis alt_id: HP:0000102 def: "The presence of calculi (stones) in the kidneys." [HPO:probinson] comment: Urinary stone disease is caused by supersaturation of the urine by stone forming substances including calcium, oxalate, and uric acid. Crystals or foreign bodies can act as a nidus for further stone formation. THe resulting kidney stones (calculi) lead to symptoms if they become impacted in the ureter. synonym: "Kidney stones" EXACT [] synonym: "Renal calculi" EXACT [] synonym: "Renal stones" EXACT [] xref: MeSH:D053040 "Nephrolithiasis" xref: UMLS:C0392525 "Nephrolithiasis" is_a: HP:0012210 ! Abnormal renal morphology is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000789 name: Infertility xref: MeSH:D007246 "Infertility" xref: UMLS:C0021359 "Infertility" is_a: HP:0000144 ! Decreased fertility [Term] id: HP:0000790 name: Hematuria def: "The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic hematuria (detected by dipstick or microscopic examination of the urine)." [HPO:curators] xref: MeSH:D006417 "Hematuria" xref: UMLS:C0221752 "hematuria" is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0012211 ! Abnormal renal physiology [Term] id: HP:0000791 name: Uric acid nephrolithiasis def: "The presence of uric acid-containing calculi (stones) in the kidneys." [HPO:probinson] synonym: "Uric acid urolithiasis" EXACT [] xref: UMLS:C0403719 "Uric acid urolithiasis" is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0000792 name: Kidney malformation 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 "Kidney malformation" is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000793 name: Membranoproliferative glomerulonephritis xref: MeSH:D015432 "Glomerulonephritis, Membranoproliferative" xref: UMLS:C0017662 "Glomerulonephritis, Membranoproliferative" is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0000794 name: IgA nephropathy xref: UMLS:C0017661 "Nephropathy, IGA" is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0000795 name: Abnormality of the urethra 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:C0041969 "Urethral disorder" 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 def: "Obstruction of the flow of urine through the `urethra` (FMA:19667)." [HPO:probinson] xref: MeSH:D014524 "Urethral Obstruction" xref: UMLS:C0041972 "Urethral Obstruction" is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0000798 name: Oligospermia def: "Reduced count of spermatozoa in the semen, defined as a sperm count below 20 million per milliliter semen." [HPO:probinson] xref: MeSH:D009845 "Oligospermia" xref: UMLS:C0868910 "Oligospermia" is_a: HP:0008669 ! Abnormal spermatogenesis [Term] id: HP:0000799 name: Fatty kidney def: "Abnormal fat accumulation in the kidneys." [HPO:probinson] xref: UMLS:C0022646 "Kidney" is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0000800 name: Cystic renal dysplasia synonym: "Bilateral cystic dysplasia" EXACT [] synonym: "Renal cystic dysplasia" EXACT [] synonym: "Renal dysplasia, cystic" EXACT [] xref: UMLS:C1842693 "Cystic renal dysplasia" is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000802 name: Impotence synonym: "Erectile dysfunction" EXACT [] xref: UMLS:C2187990 "impotence" is_a: HP:0000080 ! Abnormality of genital physiology is_a: HP:0100639 ! Erectile abnormalities [Term] id: HP:0000803 name: Renal cortical cysts synonym: "Cortical cysts" EXACT [] synonym: "Venal cortical cysts" EXACT [] xref: UMLS:C1969144 "Cortical cysts" is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000804 name: Xanthine nephrolithiasis def: "The presence of xanthine-containing calculi (stones) in the kidneys." [HPO:probinson] synonym: "Urinary xanthine stones" EXACT [] synonym: "Xanthine stones" EXACT [] xref: UMLS:C1848431 "Xanthine stones" is_a: HP:0000787 ! Nephrolithiasis [Term] id: HP:0000805 name: Enuresis def: "Lack of the ability to control the urinary bladder leading to involuntary `urination` (GO:0060073) at an age where control of the bladder should already be possible." [HPO:sdoelken] xref: MeSH:D004775 "Enuresis" xref: UMLS:C0014394 "Enuresis" is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000806 name: Selective proximal tubular damage is_a: HP:0000114 ! Proximal tubulopathy [Term] id: HP:0000807 name: Glandular hypospadias xref: UMLS:C0452168 "Hypospadias, glandular" is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000808 name: Penoscrotal hypospadias def: "A severe form of hypospadias in which the urethral opening is located at the junction of the penis and scrotum." [HPO:curators] xref: UMLS:C0452147 "Hypospadias, penoscrotal" is_a: HP:0003244 ! Penile hypospadias [Term] id: HP:0000809 name: Urinary tract atresia def: "Congenital absence of the normal opening of a structure of the urinary tract." [HPO:probinson] is_a: HP:0000079 ! Abnormality of the urinary system created_by: peter creation_date: 2008-02-27T04:07:00Z [Term] id: HP:0000811 name: Abnormal external genitalia is_a: HP:0012243 ! Abnormal genital system morphology [Term] id: HP:0000812 name: Abnormal internal genitalia def: "An anomaly of the adnexa, uterus, and vagina (in female) orseminal tract and prostate (in male)." [HPO:probinson] is_a: HP:0012243 ! Abnormal genital system morphology [Term] id: HP:0000813 name: Bicornuate uterus alt_id: HP:0008735 def: "The presence of a `bicornuate` (PATO:0002161) `uterus` (FMA:17558)." [HPO:probinson] comment: Uterus with two horn-shaped branches. xref: UMLS:C0266387 "Bicornuate uterus" is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0000814 name: Multiple small renal cortical cysts is_a: HP:0000803 ! Renal cortical cysts [Term] id: HP:0000815 name: Hypergonadotropic hypogonadism alt_id: HP:0008679 def: "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators] synonym: "Hypergonadotrophic hypogonadism" EXACT [] synonym: "Primary hypogonadism" EXACT [] xref: UMLS:C1415538 "hypergonadotropic hypogonadism" is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000816 name: Abnormality of Krebs cycle metabolism def: "An abnormality of the `tricarboxylic acid cycle` (GO:0006099)." [HPO:probinson] synonym: "Abnormality of citric acid cycle" EXACT [HPO:curators] synonym: "Abnormality of the tricarboxylic cycle" EXACT [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis created_by: peter creation_date: 2008-03-17T12:58:00Z [Term] id: HP:0000817 name: Poor eye contact def: "Difficulty in looking at another person in the eye." [HPO:probinson] comment: Eye contact, define as the meeting of the gaze between two people during a conversation, is an important form of nonverbal communication. xref: UMLS:C1445953 "Poor eye contact" is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000818 name: Abnormality of the endocrine system def: "Ab abnormality of the `endocrine system` (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. synonym: "Endocrine system disease" RELATED [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000819 name: Diabetes mellitus alt_id: HP:0004908 alt_id: HP:0008217 alt_id: HP:0008234 alt_id: HP:0008260 def: "A group of abnormalities characterized by hyperglycemia and glucose intolerance." [HPO:probinson] xref: MeSH:D003920 "Diabetes mellitus" is_a: HP:0000818 ! Abnormality of the endocrine system is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0000820 name: Abnormality of the thyroid gland def: "An abnormality of the `thyroid gland` (FMA:9603)." [HPO:probinson] synonym: "Thyroid abnormality" EXACT [] synonym: "Thyroid disease" EXACT [] xref: MeSH:D013959 "Diseases, Thyroid" xref: UMLS:C2186538 "thyroid disease" is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000821 name: Hypothyroidism alt_id: HP:0003222 alt_id: HP:0008203 def: "Deficiency of thyroid hormone." [HPO:probinson] synonym: "Low T4" EXACT [] xref: MeSH:D007037 "Hypothyroidism" xref: UMLS:C0020676 "Hypothyroidism" is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0000822 name: Hypertension alt_id: HP:0004949 alt_id: HP:0005126 def: "The presence of `chronic` (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: MeSH:D006973 "Hypertension" xref: UMLS:C0020538 "Hypertension" is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0000823 name: Delayed puberty alt_id: HP:0008859 alt_id: HP:0010466 alt_id: HP:0010467 def: "Passing the age when puberty normally occurs with no physical or hormonal signs of the onset of puberty." [HPO:probinson] synonym: "Delalyed puberty" EXACT [] synonym: "Delayed pubertal development" EXACT [] synonym: "Delayed pubertal growth" EXACT [] synonym: "Delayed puberty (female)" EXACT [] synonym: "Delayed puberty (male)" EXACT [] xref: MeSH:D011628 "Puberty, Delayed" xref: UMLS:C0034012 "Delayed Puberty" is_a: HP:0001510 ! Growth delay is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000824 name: Growth hormone deficiency alt_id: HP:0000861 alt_id: HP:0008195 alt_id: HP:0008206 def: "Insufficient production of growth hormone, which is produced by the anterior pituitary gland. Growth hormone is a major participant in control of growth and metabolism." [HPO:probinson] xref: UMLS:C0013338 "growth hormone deficiency" xref: UMLS:C0271563 "Isolated growth hormone deficiency" is_a: HP:0000830 ! Anterior hypopituitarism is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0000825 name: Hyperinsulinemic hypoglycemia def: "An `increased concentration` (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:C1864903 "Hyperinsulinemic hypoglycemia" is_a: HP:0000842 ! Hyperinsulinemia [Term] id: HP:0000826 name: Precocious puberty def: "The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys." [HPO:probinson] xref: MeSH:D011629 "Puberty, Precocious" xref: UMLS:C0034013 "Precocious Puberty" is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000828 name: Abnormality of the parathyroid gland 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. synonym: "Parathyroid disease" RELATED [] is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000829 name: Hypoparathyroidism alt_id: HP:0000856 alt_id: HP:0008292 def: "A condition caused by a deficiency of parathyroid hormone characterized by hypocalcemia and hyperphosphatemia." [HPO:probinson] synonym: "Low parathyroid hormone" EXACT [] xref: MeSH:D007011 "Hypoparathyroidism" xref: UMLS:C1384672 "hypoparathyroidism" is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000830 name: Anterior hypopituitarism def: "A condition of reduced function of the pituitary gland characterized by decreased secretion of one or more of the pituitary hormones growth hormone, thyroid-stimulating hormone, adrenocorticotropic hormone, prolactin, luteinizing hormone, and follicle-stimulating hormone." [HPO:probinson] xref: UMLS:C0020635 "Pituitary deficiency" is_a: HP:0011747 ! Abnormality of the anterior pituitary [Term] id: HP:0000831 name: Insulin-resistant diabetes mellitus def: "A type of diabetes mellitus related not to lack of insulin but rather to lack of response to insulin on the part of the target tissues of insulin such as muscle, fat, and liver cells. This type of diabetes is typically associated with increases both in blood glucose concentrations as will as in fasting and postprandial serum insulin levels." [HPO:probinson, pmid:7706500] synonym: "Insulin resistant diabetes" EXACT [] synonym: "Insulin resistant diabetes mellitus" EXACT [] synonym: "Insulin-resistant diabetes" EXACT [] xref: UMLS:C0743125 "Insulin resistant diabetes mellitus" is_a: HP:0000819 ! Diabetes mellitus is_a: HP:0000855 ! Insulin resistance [Term] id: HP:0000832 name: Primary hypothyroidism def: "A type of `hypothyroidism` (HP:0000821) that results from a defect in the `thyroid gland` (FMA:9603)." [HPO:probinson] xref: UMLS:C0700502 "Primary hypothyroidism" is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0000833 name: Glucose intolerance synonym: "Impaired glucose tolerance" EXACT [] xref: MeSH:D018149 "Glucose Intolerance" xref: UMLS:C0271650 "Glucose Intolerance" is_a: HP:0001952 ! Abnormal glucose tolerance [Term] id: HP:0000834 name: Abnormality of the adrenal glands def: "Abnormality of the `adrenal glands` (FMA:9604), i.e., of the endocrine glands located at the top of the kindneys." [HPO:probinson] synonym: "Adrenal abnormalities" EXACT [] synonym: "Adrenal gland disease" RELATED [] is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000835 name: Adrenal hypoplasia 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 "Adrenal hypoplasia" is_a: HP:0011732 ! Abnormality of adrenal morphology [Term] id: HP:0000836 name: Hyperthyroidism alt_id: HP:0008241 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: MeSH:D006980 "Hyperthyroidism" xref: UMLS:C0020550 "Hyperthyroidism" is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0000837 name: Gonadotropin excess def: "Overproduction of gonadotropins (FSH, LH) by the anterior pituitary gland." [DDD:spark] synonym: "Elevated gonadotropins" EXACT [] synonym: "Elevated serum gonadotropins" EXACT [] xref: UMLS:C1862265 "Elevated gonadotropins" is_a: HP:0010514 ! Hyperpituitarism [Term] id: HP:0000839 name: Pituitary dwarfism def: "A type of reduced stature with normal proportions related to dysfunction of the pituitary gland related to either an isolated defect in the secretion of growth hormone or to panhypopituitarism, i.e., a deficit of all the anterior pituitary hormones." [HPO:probinson] xref: MeSH:D004393 "Dwarfism, Pituitary" xref: UMLS:C0013338 "growth hormone deficiency" is_a: HP:0000824 ! Growth hormone deficiency [Term] id: HP:0000840 name: Adrenogenital syndrome alt_id: HP:0001921 def: "Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects." [HPO:probinson] xref: MeSH:D047808 "Adrenogenital Syndrome" xref: UMLS:C0302280 "Adrenogenital Syndrome" is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000841 name: Hyperactive renin-angiotensin system def: "An abnormally increased activity of the renin-angiotensin system, causing hypertension by a combination of volume excess and vasoconstrictor mechanisms." [HPO:probinson] comment: If the kidneys sense reduced renal blood flow, as can happen with reduced blood pressure, they secrete renin into the blood, where it reacts with angiotensinogen to produce angiotensin I, which is converted to angiotensin II by angiotensin converting enzyme (ACE). Both angiotensin I and II are vasoconstrictors. Angiotensin II additionally leads to the production of aldosterone by the adrenal cortex, which in turn leads to an increase in blood volume. xref: UMLS:C1846345 "Hyperactive renin-angiotensin system" is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0000842 name: Hyperinsulinemia def: "An `increased concentration` (PATO:0001162) of `insulin` (PRO:000009054) in the `blood` (FMA:9670)." [HPO:probinson] xref: MeSH:D006946 "Hyperinsulinism" xref: UMLS:C0020459 "Hyperinsulinaemia" is_a: HP:0003117 ! Abnormality of circulating hormone level is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0000843 name: Hyperparathyroidism def: "Excessive production of parathyroid hormone (PTH) by the parathyroid glands." [HPO:probinson] xref: MeSH:D006961 "Hyperparathyroidism" xref: UMLS:C0020502 "Hyperparathyroidism" is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000845 name: Growth hormone excess alt_id: HP:0008856 def: "Acromegaly is a condition resulting from overproduction of growth hormone by the pituitary gland in persons with closed epiphyses, and consists chiefly in the enlargement of the distal parts of the body. The circumference of the skull increases, the nose becomes broad, the tongue becomes enlarged, the facial features become coarsened, the mandible grows excessively, and the teeth become separated. The fingers and toes grow chiefly in thickness." [DDD:spark, HPO:probinson] comment: Disorder resulting from excess pituitary gland production of growth hormone (hGH). synonym: "Acral hypertrophy" EXACT [] synonym: "Acromegalic growth" EXACT [] synonym: "Acromegaly" EXACT [] xref: MeSH:D000172 "Acromegaly" xref: UMLS:C0001206 "Acromegaly" is_a: HP:0010514 ! Hyperpituitarism [Term] id: HP:0000846 name: Adrenal insufficiency alt_id: HP:0000865 alt_id: HP:0008218 def: "Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves." [HPO:probinson, pmid:11443143] comment: Adrenal insufficiency may cause persistent vomiting, anorexia, hypoglycemia, poor weight gain in a child, or unexplained weight loss in an adult, malaise, fatigue, muscular weakness, unexplained isotonic or hyponatremic dehydration, hyperkalemia, hypotension, hypoglycemia and especially generalized hyperpigmentation. synonym: "Hypoadrenalism" EXACT [] xref: MeSH:D000309 "Adrenal Insufficiency" xref: UMLS:C0001623 "Adrenal Insufficiency" xref: UMLS:C0405580 "Adrenal Insufficiency" is_a: HP:0011733 ! Abnormality of adrenal physiology [Term] id: HP:0000847 name: Abnormality of renin-angiotensin system alt_id: HP:0003350 def: "An abnormality of the `renin-angiotensin system` (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 [] is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000848 name: Increased circulating renin level alt_id: HP:0003615 def: "An increased level of renin (PRO:000013883) in the `blood` (FMA:9670)." [HPO:probinson] synonym: "Elevated plasma renin" EXACT [] synonym: "Hyperreninemia" EXACT [] synonym: "Increased plasma renin" EXACT [] synonym: "Increased serum renin" EXACT [] xref: UMLS:C1846346 "Increased plasma renin" is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0000849 name: Adrenocortical abnormality is_a: HP:0011732 ! Abnormality of adrenal morphology [Term] id: HP:0000851 name: Congenital hypothyroidism def: "A type of `hypothyroidism` (HP:0000821) with `congenital onset` (HP:0003577)." [HPO:probinson] synonym: "Hypothyroidism, congenital" EXACT [] xref: MeSH:D003409 "Congenital Hypothyroidism" is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0000852 name: Pseudohypoparathyroidism def: "A condition characterized by resistance to the action of parathyroid hormone, in which there is hypocalcemia, hyperphosphatemia, and (appropriately) high levels of parathyroid hormone." [HPO:probinson] xref: MeSH:D011547 "Pseudohypoparathyroidism" xref: UMLS:C0033806 "Pseudohypoparathyroidism" is_a: HP:0011767 ! Abnormality of the parathyroid physiology [Term] id: HP:0000853 name: Goiter def: "An enlargement of the `thyroid gland` (FMA:9603)." [HPO:probinson] synonym: "Goitre" EXACT [] xref: MeSH:D006042 "Goiter" xref: UMLS:C0018021 "GOITRE" is_a: HP:0011772 ! Abnormality of thyroid morphology [Term] id: HP:0000854 name: Thyroid adenoma def: "The presence of a `adenoma` (MPATH:270) of the `thyroid gland` (FMA:9603)." [HPO:probinson] xref: UMLS:C0151468 "Thyroid Adenoma" is_a: HP:0100031 ! Neoplasm of the thyroid gland [Term] id: HP:0000855 name: Insulin resistance def: "`Increased resistance` (PATO:0001650) towards `insulin` (PRO:000009054), that is, diminished effectiveness of insulin in reducing blood glucose levels." [HPO:probinson] xref: MeSH:D007333 "Insulin Resistance" xref: UMLS:C0021655 "Insulin Resistance" is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0000857 name: Neonatal insulin-dependent diabetes mellitus is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000858 name: Menstrual irregularities synonym: "Menstrual irregularity" EXACT [] xref: UMLS:C0156404 "Irregularities, menstrual" is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000859 name: Hyperaldosteronism alt_id: HP:0004318 alt_id: HP:0005975 def: "Overproduction of the mineralocorticoid aldosterone by the adrenal cortex." [DDD:spark, HPO:probinson] synonym: "Elevated plasma aldosterone" EXACT [] synonym: "Increased aldosterone" EXACT [] synonym: "Increased aldosterone production" EXACT [] synonym: "Mineralocorticoid excess" EXACT [] xref: MeSH:D006929 "Hyperaldosteronism" xref: UMLS:C0020428 "Hyperaldosteronism" xref: UMLS:C0857641 "Increased plasma aldosterone" is_a: HP:0002717 ! Adrenal overactivity [Term] id: HP:0000860 name: Parathyroid hypoplasia def: "Developmental hypoplasia of the `parathyroid gland` (FMA:13890)." [HPO:probinson] xref: UMLS:C1389851 "Parathyroid hypoplasia" is_a: HP:0011768 ! Parathyroid dysgenesis [Term] id: HP:0000863 name: Central diabetes insipidus alt_id: HP:0008210 def: "A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus." [HPO:curators] synonym: "Neurohypophyseal diabetes insipidus" EXACT [] xref: MeSH:D020790 "Diabetes Insipidus, Neurogenic" xref: UMLS:C0687720 "Diabetes Insipidus, Neurohypophyseal" is_a: HP:0000873 ! Diabetes insipidus is_a: HP:0011751 ! Abnormality of the posterior pituitary [Term] id: HP:0000864 name: Abnormality of the hypothalamus-pituitary axis alt_id: HP:0000838 alt_id: HP:0000844 def: "Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit." [DDD:spark] synonym: "Abnormality of the pituitary gland" EXACT [] is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000866 name: Euthyroid multinodular goiter xref: UMLS:C1846034 "Euthyroid multinodular goiter" is_a: HP:0009798 ! Euthyroid goiter [Term] id: HP:0000867 name: Secondary hyperparathyroidism def: "Secondary hyperparathyroidism refers to the production of higher than normal levels of parathyroid hormone in the presence of hypocalcemia." [HPO:probinson, pmid:19836494] comment: Secondary hyperparathyroidism occurs most commonly secondary to chronic renal failure. Other causes of secondary hyperparathyroidism include osteomalacia, rickets, and malabsorption. The pathophysiology of secondary hyperparathyroidism results from abnormalities in the renal tubular absorption of phosphate with reduced phosphate excretion and hyperphosphatemia, as well as impaired renal conversion of 25-hydroxycholecalciferal to 1,25-dihydroxycholecalciferol, which in turn leads to a decrease in the intestinal absorption of calcium. In combination, elevated serum phosphate levels and reduced vitamin D production result in decreases in serum calcium levels or hypocalcemia, leading to hyperparathyroidism. xref: MeSH:D006962 "Hyperparathyroidism, Secondary" xref: UMLS:C0020503 "Hyperparathyroidism, Secondary" is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0000868 name: Decreased fertility in females synonym: "Reduced fertility in females" EXACT [] is_a: HP:0000144 ! Decreased fertility [Term] id: HP:0000869 name: Secondary amenorrhea xref: UMLS:C0232940 "Secondary amenorrhea" is_a: HP:0000141 ! Amenorrhea [Term] id: HP:0000870 name: Prolactin excess def: "The presence of abnormally increased levels of prolactin in the blood. Prolactin is a peptide hormone produced by the anterior pituitary gland that plays a role in breast development and lactation during pregnancy." [DDD:spark, HPO:probinson] synonym: "Hyperprolactinaemia" EXACT [] synonym: "Hyperprolactinemia" EXACT [] xref: MeSH:D006966 "Hyperprolactinemia" xref: UMLS:C0020514 "Hyperprolactinemia" is_a: HP:0010514 ! Hyperpituitarism [Term] id: HP:0000871 name: Panhypopituitarism def: "A pituitary functional deficit affecting all the anterior pituitary hormones (growth hormone, thyroid-stimulating hormone, follicle-stimulating hormone, luteinizing hormone, adrenocorticotropic hormone, and prolactin)." [HPO:probinson, pmid:12466332] xref: UMLS:C0342376 "PANHYPOPITUITARISM" is_a: HP:0000830 ! Anterior hypopituitarism [Term] id: HP:0000872 name: Hashimoto thyroiditis def: "A chronic, autoimmune type of `thyroiditis` (HP:0100646) associated with `hypothyroidism` (HP:0000821)." [HPO:probinson] synonym: "Chronic lymphocytic thyroiditis " EXACT [] synonym: "Hashimoto's thyroiditis" EXACT [] xref: MeSH:D050031 "Hashimoto Disease" xref: UMLS:C0677607 "Hashimoto Thyroiditis" is_a: HP:0002960 ! Autoimmunity is_a: HP:0100646 ! Thyroiditis [Term] id: HP:0000873 name: Diabetes insipidus def: "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators] xref: MeSH:D003919 "Diabetes insipidus" xref: UMLS:C0011848 "Diabetes Insipidus" is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0000875 name: Episodic hypertension xref: UMLS:C1857175 "Hypertension, episodic" is_a: HP:0000822 ! Hypertension [Term] id: HP:0000876 name: Oligomenorrhea xref: MeSH:D009839 "Oligomenorrhea" xref: UMLS:C2057730 "oligomenorrhea" is_a: HP:0000140 ! Abnormality of the menstrual cycle [Term] id: HP:0000877 name: Insulin-resistant diabetes mellitus at puberty is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000878 name: 11 pairs of ribs is_a: HP:0000921 ! Missing ribs [Term] id: HP:0000879 name: Short sternum synonym: "Hypoplastic sternum" RELATED [] xref: UMLS:C0575497 "Short sternum" is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0000882 name: Hypoplastic scapulae alt_id: HP:0000906 alt_id: HP:0006616 def: "Underdeveloped `scapula` (FMA:13394)." [HPO:probinson] synonym: "Hypoplastic scapula" EXACT [] synonym: "Scapular hypoplasia" EXACT [] synonym: "Short scapulae" EXACT [] synonym: "Small scapula" EXACT [] synonym: "Small scapulae" EXACT [] xref: UMLS:C1843669 "Hypoplastic scapulae" xref: UMLS:C1846434 "Short scapulae" is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae [Term] id: HP:0000883 name: Thin ribs def: "Ribs with a reduced diameter." [HPO:probinson] synonym: "Slender ribs" EXACT [] xref: UMLS:C0426818 "Thin ribs" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000884 name: Prominent sternum synonym: "Sternal protrusion" EXACT [] xref: UMLS:C1846152 "Prominent sternum" is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0000885 name: Broad ribs alt_id: HP:0000903 alt_id: HP:0000950 alt_id: HP:0006667 def: "Increased width of ribs." [HPO:probinson] synonym: "Wide ribs" EXACT [] xref: UMLS:C1848654 "Broad ribs" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000886 name: Deformed rib cage def: "Malformation of the `rib cage` (FMA:7480)." [HPO:probinson] xref: UMLS:C1838659 "Deformed rib cage" is_a: HP:0001547 ! Abnormality of the morphology of the rib cage [Term] id: HP:0000887 name: Cupped ribs alt_id: HP:0006635 def: "Wide, concave rib end." [HPO:probinson] synonym: "Rib cupping" EXACT [] synonym: "Rib flaring" RELATED [] xref: UMLS:C1865039 "Cupped ribs" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000888 name: Horizontal ribs def: "A horizontal (flat) conformation of the ribs, the long curved bones that form the rib cage and normally progressively oblique (slanted) from ribs 1 through 9, then less slanted through rib 12." [HPO:probinson] is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000889 name: Abnormality of the clavicles def: "Any abnormality of the clavicles (collar bones)." [HPO:curators] is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000890 name: Long clavicles alt_id: HP:0006592 def: "Increased length of the clavicles." [HPO:probinson] synonym: "Elongated clavicles" EXACT [] xref: UMLS:C0426808 "Long clavicles" is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0000891 name: Cervical ribs def: "A supernumerary rib developing from an abnormal enlargement of the costal element of the C7 vertebra." [HPO:probinson, MeSH:D057070] xref: MeSH:D057070 "Cervical rib" xref: UMLS:C0158779 "Cervical ribs" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000892 name: Bifid ribs def: "A bifid rib refers to cleavage of the sternal end of a rib, usually unilateral. Bifid ribs are usually asymptomatic, and are often discovered incidentally by chest x-ray." [HPO:curators] xref: UMLS:C0265695 "Rib fusion" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000893 name: Bulging of the costochondral junction def: "Abnormal outward curving (protuberance) of the junction of ribs and costal cartilage." [HPO:probinson] comment: The costochondral junction is the structure where the ribs articulate with the sternum. is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000894 name: Short clavicles alt_id: HP:0000898 alt_id: HP:0005698 alt_id: HP:0005902 def: "Reduced length of the clavicles." [HPO:probinson] synonym: "Clavicular hypoplasia" EXACT [] synonym: "Hypoplastic clavicles" EXACT [] synonym: "Underdeveloped clavicles" EXACT [] xref: UMLS:C0426799 "Hypoplastic clavicles" xref: UMLS:C0426807 "Short clavicles" is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0000895 name: Hooked clavicles synonym: "Hook-shaped clavicles" EXACT [] xref: UMLS:C0426805 "Hooked clavicles" is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0000896 name: Rib exostoses xref: UMLS:C1835579 "Rib exostoses" is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0100777 ! Exostoses [Term] id: HP:0000897 name: Rachitic rosary def: "A row of beadlike prominences at the junction of a rib and its cartilage, resembling a rosary." [HPO:probinson] xref: UMLS:C0426824 "Rachitic rosary" is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000900 name: Thickened ribs xref: UMLS:C1854820 "Thickened ribs" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000902 name: Rib fusion alt_id: HP:0000880 synonym: "Fused ribs" EXACT [] xref: UMLS:C0265695 "Rib fusion" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000904 name: Flaring of rib cage alt_id: HP:0006656 def: "The presence of wide, concave anterior rib ends." [HPO:curators] synonym: "Anterior flaring of ribs" EXACT [] is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000905 name: Progressive clavicular acroosteolysis def: "Progressive bone resorption in the distal part of the clavicle." [HPO:probinson] synonym: "Progressive acroosteolysis of the clavicle" EXACT [] is_a: HP:0000889 ! Abnormality of the clavicles is_a: HP:0002797 ! Osteolysis [Term] id: HP:0000907 name: Anterior rib cupping alt_id: HP:0006601 def: "Wide, concave anterior rib end." [HPO:probinson] synonym: "Anterior cupping of ribs" EXACT [] synonym: "Anteriorly splayed ribs" EXACT [] xref: UMLS:C1866708 "Anteriorly splayed ribs" is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000910 name: Wide-cupped costochondral junctions xref: UMLS:C1861213 "Wide-cupped costochondral junctions" is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000911 name: Flat glenoid fossa def: "Abnormally flat configuration of the `glenoid fossa` (FMA:23275), also known as the glenoid cavity, which is the articular surface of the scapula that articulates with the head of the humerus." [HPO:probinson, pmid:15163819] comment: See pmid:15163819, figure 2, for the arthrographic appearance of a flat glenoid fossa. xref: UMLS:C1855177 "Flat glenoid fossa" is_a: HP:0011912 ! Abnormality of the glenoid fossa [Term] id: HP:0000912 name: Sprengel anomaly alt_id: HP:0006621 def: "A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other)." [HPO:probinson] comment: Sprengel deformity is associated with malposition and dysplasia of the scapula and also involves regional muscle hypoplasia or atrophy, which causes disfigurement and limitation of shoulder movement. Sprengel deformity may be unilateral or bilateral and occur in isolation or as a syndromic component. Abduction of shoulder beyond 90 degrees is impossible. synonym: "Congenital, upward displacement of the scapula" EXACT [] synonym: "Sprengel deformity" EXACT [] xref: UMLS:C1860355 "Sprengel anomaly" is_a: HP:0000782 ! Abnormality of the scapula [Term] id: HP:0000913 name: Posterior rib fusion xref: UMLS:C1842084 "Posterior rib fusion" is_a: HP:0000902 ! Rib fusion [Term] id: HP:0000914 name: Shield chest xref: UMLS:C1834124 "Shield chest" is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0000915 name: Pectus excavatum of inferior sternum def: "Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum." [HPO:probinson] synonym: "Pectus excavatum inferiorly" EXACT [] xref: UMLS:C1864796 "Pectus excavatum inferiorly" is_a: HP:0000767 ! Pectus excavatum [Term] id: HP:0000916 name: Broad clavicles alt_id: HP:0006651 def: "Increased width (cross-sectional diameter) of the clavicles." [HPO:probinson] xref: UMLS:C0426801 "Broad clavicles" is_a: HP:0000889 ! Abnormality of the clavicles [Term] id: HP:0000917 name: Superior pectus carinatum def: "Pectus carinatum affecting primarily the superior part of the sternum." [HPO:curators] synonym: "Pectus carinatum superiorly" EXACT [] xref: UMLS:C1864795 "Pectus carinatum superiorly" is_a: HP:0000768 ! Pectus carinatum [Term] id: HP:0000918 name: Scapular exostoses def: "The presence of multiple exostoses on the scapula. An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage." [HPO:probinson] synonym: "Scapulae exostoses" EXACT [] xref: UMLS:C1851415 "Scapular exostoses" is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0100777 ! Exostoses [Term] id: HP:0000919 name: Abnormality of the costochondral junction def: "Any anomaly of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [HPO:probinson] comment: The first seven pairs of ribs are connected with the sternum; the next three ribs are each articulated with the lower border of the cartilage of the preceding rib; the last two ribs have pointed extremities, which do not connect with the sternum. synonym: "Costochondral juctions abnormal" EXACT [] is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000920 name: Enlargement of the costochondral junction alt_id: HP:0006620 def: "Abnormally increased size of the costochondral junctions, which are located between the distal part of the ribs and the costal cartilages, which are bars of hyaline cartilage that connect the ribs to the sternum." [HPO:probinson] synonym: "Costochondral thickening" EXACT [] synonym: "Enlarged costochondral junctions" EXACT [] synonym: "Prominent costochondral junction" EXACT [] synonym: "Wide costochondral junctions" EXACT [] synonym: "Widened costochondral junction" EXACT [] xref: UMLS:C1861322 "Prominent costochondral junction" is_a: HP:0000919 ! Abnormality of the costochondral junction [Term] id: HP:0000921 name: Missing ribs alt_id: HP:0000881 alt_id: HP:0006627 synonym: "Absent ribs" EXACT [] synonym: "Decreased rib number" EXACT [] xref: UMLS:C0426816 "Missing ribs" is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000922 name: Posterior rib cupping alt_id: HP:0006622 def: "Wide, concave posterior rib end." [HPO:probinson] synonym: "Anterior and posterior rib cupping" EXACT [] is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000923 name: Beaded ribs def: "The presence of a row of beadlike prominences at the junction of a rib and its cartilag." [HPO:curators] comment: Beaded ribs, sometimes referred to as rachitic rosary, were often seen in rachitic children. xref: UMLS:C0426824 "Rachitic rosary" is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000924 name: Abnormality of the skeletal system def: "An abnormality of the `skeletal system` (FMA:23881)." [HPO:probinson] synonym: "Skeletal abnormalities" EXACT [] synonym: "Skeletal anomalies" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0000925 name: Abnormality of the vertebral column def: "Any abnormality of the `vertebral column` (FMA:13478)." [HPO:probinson] synonym: "Abnormal vertebral column" EXACT [] synonym: "Abnormality of the backbone" RELATED [] synonym: "Abnormality of the spine" EXACT [] is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000926 name: Platyspondyly alt_id: HP:0002940 alt_id: HP:0004595 alt_id: HP:0004623 alt_id: HP:0004627 alt_id: HP:0005123 alt_id: HP:0005644 alt_id: HP:0008466 def: "A flattened vertebral body shape with reduced distance beween the vertebral endplates." [HPO:probinson] synonym: "Flat vertebral bodies" EXACT [] synonym: "Flattened vertebrae" EXACT [] synonym: "Flattened vertebral bodies" EXACT [] xref: UMLS:C1865023 "Platyspondyly" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0000927 name: Abnormality of skeletal maturation def: "The bones of the skeleton undergo a series of characteristic changes in size, shape, and calcification from fetal life until puberty. An abnormality of this process can include delayed or accelerated skeletal maturation, or deviation of some, but not all bones from the expected patterns of maturation." [HPO:probinson] is_a: HP:0011843 ! Abnormality of skeletal physiology [Term] id: HP:0000929 name: Abnormality of the skull def: "An abnormality of the `skull` (FMA:46565), the bony framework of the head which is comprised of eight cranial and fourteen facial bones." [HPO:probinson] is_a: HP:0000234 ! Abnormality of the head is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0000930 name: Elevated imprint of the transverse sinuses is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0000931 name: Thinning and bulging of the posterior fossa bones synonym: "Thinning and bulging of posterior fossa bones" EXACT [] is_a: HP:0000932 ! Abnormality of the posterior cranial fossa [Term] id: HP:0000932 name: Abnormality of the posterior cranial fossa alt_id: HP:0007306 def: "An abnormality of the fossa cranii posterior (the posterior fossa), which is made up primarily of the occipital bone and which surrounds to the foramen magnum." [HPO:curators] comment: This finding can be demonstrated by cerebral magnetic resonance imaging or computer tomography. synonym: "Abnormality of the posterior fossa" EXACT [] synonym: "Posterior fossa anomaly" EXACT [] is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0000933 name: Posterior fossa cyst at the fourth ventricle is_a: HP:0007109 ! Periventricular cysts is_a: HP:0007291 ! Posterior fossa cyst [Term] id: HP:0000934 name: Chondrocalcinosis def: "Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) ." [HPO:sdoelken] xref: MeSH:D002805 "Chondrocalcinosis" xref: UMLS:C0553730 "Chondrocalcinosis" is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0010766 ! Ectopic calcification is_a: HP:0100685 ! Abnormality of Sharpey fibers [Term] id: HP:0000935 name: Thickened cortex of long bones def: "Abnormal thickening of the cortex of long bones." [HPO:curators] synonym: "Broad cortex of long bones" EXACT [] synonym: "Cortical thickening of the long bones" EXACT [] synonym: "Thickened cortices of long bones" EXACT [] is_a: HP:0011314 ! Abnormality of long bone morphology is_a: HP:0100039 ! Thickened cortex of bones [Term] id: HP:0000938 name: Osteopenia alt_id: HP:0002768 alt_id: HP:0002799 alt_id: HP:0002800 def: "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:probinson] synonym: "Decreased bone mineral density" EXACT [] synonym: "Generalized osteopenia" EXACT [] xref: MeSH:D001851 "Osteopenia" xref: UMLS:C1968854 "Decreased bone mineral density" is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000939 name: Osteoporosis alt_id: HP:0002774 def: "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] synonym: "Generalized osteoporosis" EXACT [] xref: MeSH:D010024 "Osteoporosis" xref: UMLS:C0029456 "Osteoporosis" is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000940 name: Abnormal diaphysis morphology def: "An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone." [HPO:probinson] synonym: "Abnormality of the diaphyses" EXACT [] is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0000941 name: Short diaphyses is_a: HP:0000940 ! Abnormal diaphysis morphology [Term] id: HP:0000943 name: Dysostosis multiplex alt_id: HP:0002760 xref: UMLS:C0086795 "Dysostosis multiplex" is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0000944 name: Abnormality of the metaphyses alt_id: HP:0006506 def: "An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood." [HPO:probinson] is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0000945 name: Flared irregular metaphyses alt_id: HP:0005055 synonym: "Flared and irregular metaphyses" EXACT [] synonym: "Irregular, flared metaphyses" EXACT [] synonym: "Metaphyseal flaring and irregularity" EXACT [] is_a: HP:0003015 ! Flared metaphyses [Term] id: HP:0000946 name: Hypoplastic ilia alt_id: HP:0003176 alt_id: HP:0003178 def: "Underdevelopment of the `ilium` (FMA:16589)." [HPO:probinson] synonym: "Short and small iliac bones" EXACT [] synonym: "Small iliac bones" EXACT [] xref: UMLS:C1846800 "Hypoplastic ilia" is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0000947 name: Dumbbell-shaped long bone alt_id: HP:0005061 alt_id: HP:0005071 alt_id: HP:0005075 def: "An abnormal appearance of the long bones with resemblance to a dumbbell, a short bar with a weight at each end. That is, the long bone is shortened and displays flaring (widening) of the metaphyses." [HPO:probinson] synonym: "Dumbbell widening of long bone metaphyses" EXACT [] is_a: HP:0003016 ! Metaphyseal widening is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0000951 name: Abnormality of the skin alt_id: HP:0001478 alt_id: HP:0001479 alt_id: HP:0005591 alt_id: HP:0006736 alt_id: HP:0007415 alt_id: HP:0007580 def: "An abnormality of the `skin` (FMA:7163)." [HPO:probinson] synonym: "dermatopathy" EXACT [HPO:skoehler] synonym: "dermopathy" EXACT [HPO:skoehler] synonym: "Skin abnormality" RELATED [] is_a: HP:0001574 ! Abnormality of the integument [Term] id: HP:0000952 name: Jaundice def: "Yellow pigmentation of the skin or sclera due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream." [HPO:curators] xref: MeSH:D007565 "Jaundice" xref: UMLS:C0022346 "Jaundice" is_a: HP:0001005 ! Dermatological manifestations of systemic disorders is_a: HP:0001396 ! Cholestasis [Term] id: HP:0000953 name: Hyperpigmentation of the skin alt_id: HP:0007527 def: "A darkening of the skin related to an increase in melanin production and deposition." [HPO:probinson] synonym: "Cutaneous hyperpigmentation" EXACT [] synonym: "Increased skin pigmentation" EXACT [] synonym: "Skin hyperpigmentation" EXACT [] is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0000954 name: Single transverse palmar crease alt_id: HP:0006214 def: "The distal and proximal transverse palmar creases are merged into a single transverse palmar crease." [HPO:probinson, pmid:19125433] comment: The presence of a single palmar crease (instead of the two palmar creases that are typically present). synonym: "Simian crease" EXACT [] synonym: "Simian creases" EXACT [] synonym: "Single flexion crease" EXACT [] synonym: "Single palmar crease" EXACT [] synonym: "Single palmar creases" EXACT [] synonym: "Single transverse palmar creases" EXACT [] synonym: "Transverse palmar crease" EXACT [] xref: UMLS:C1865130 "Transverse palmar creases" is_a: HP:0010490 ! Abnormality of the palmar creases [Term] id: HP:0000956 name: Acanthosis nigricans alt_id: HP:0007498 alt_id: HP:0007518 alt_id: HP:0007591 def: "A dermatosis characterized by thickened, hyperpigmented plaques, typically on the intertriginous surfaces and neck." [DDD:cmoss, pmid:19061584] comment: Acanthosis nigricans is seen in a variety of syndromes including those characterized by insulin resistance or fibroblast growth factor receptor (FGFR) mutations, and may also occur as an adverse effect of several medications that promote hyperinsulinemia. subset: secondary_consequence xref: MeSH:D000052 "Acanthosis Nigricans" xref: UMLS:C0000889 "Acanthosis Nigricans" xref: UMLS:C0343059 "Benign acanthosis nigricans" is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0000957 name: Cafe-au-lait spot alt_id: HP:0005601 alt_id: HP:0007454 def: "Cafe-au-lait spots are hyperpigmented lesions that can vary in color from light brown to dark brown with smooth borders and having a size of 1.5 cm or more in adults and 0.5 cm or more in children." [HPO:probinson] comment: The phrase cafe-au-lait comes from the French word for milk-coffee. A single cafe-au-lait spot can be an isolated finding in otherwise normal individuals. Multiple cafe-au-lait spots often indicate the presence of neurofibromatosis type 1 but may also be seen in other diseases including McCune-Albright syndrome, tuberous sclerosis, and Fanconi anemia. synonym: "Cafe au lait spots" EXACT [] synonym: "Cafe-au-lait macules" EXACT [] synonym: "Multiple cafe-au-lait spots" RELATED [] xref: MeSH:D019080 "Cafe-au-Lait Spots" xref: UMLS:C0221263 "Cafe-au-Lait Spots" is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0000958 name: Dry skin def: "Skin characterized by the lack of natural or normal moisture." [HPO:probinson] synonym: "Xerosis" EXACT [] xref: MP:0003853 xref: UMLS:C0151908 "Dry skin" is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0000960 name: Sacral dimple def: "A subtype of `skin dimples` (HP:0010781) presenting as an indentation in the skin of the intergluteal cleft ." [HPO:probinson] synonym: "Pilonidal dimple" EXACT [] xref: UMLS:C0426848 "Sacral dimple" is_a: HP:0010767 ! Sacrococcygeal pilonidal abnormality is_a: HP:0010781 ! Skin dimples [Term] id: HP:0000961 name: Cyanosis def: "A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule." [MeSH:D003490] xref: MeSH:D003490 "Cyanosis" xref: UMLS:C0010520 "Cyanosis" is_a: HP:0001005 ! Dermatological manifestations of systemic disorders is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0000962 name: Hyperkeratosis alt_id: HP:0007523 def: "Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum." [HPO:curators] xref: UMLS:C0870082 "Hyperkeratosis" is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0000963 name: Thin skin xref: UMLS:C0423757 "Thin skin" is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0000964 name: Eczema alt_id: HP:0001481 def: "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:probinson] synonym: "Dermatitis" EXACT [] xref: MeSH:D004485 "Eczema" xref: UMLS:C0013595 "Eczema" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0000965 name: Cutis marmorata alt_id: HP:0001037 def: "A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata, also called livedo reticularis, generally occurs on the legs, arms and trunk and is often more severe in cold weather." [HPO:sdoelken] synonym: "Livedo reticularis" EXACT [] xref: MeSH:D054068 "Livedo Reticularis" xref: UMLS:C0263401 "Cutis marmorata" is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0000966 name: Hypohidrosis alt_id: HP:0007551 alt_id: HP:0007571 def: "Abnormally diminished capacity to sweat." [HPO:curators] synonym: "Decreased ability to sweat" EXACT [] synonym: "Decreased sweating" EXACT [] synonym: "Oligohidrosis" EXACT [] xref: MeSH:D007007 "Hypohidrosis" xref: UMLS:C0020620 "Hypohidrosis" is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0000967 name: Petechiae def: "Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae." [HPO:probinson] xref: UMLS:C0031256 "Petechiae" is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000968 name: Ectodermal dysplasia alt_id: HP:0007615 def: "Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands." [HPO:probinson] comment: This term is kept in the HPO for now as 'ectodermal dysplasia' has been recorded as a phenotypic of other disorders such as DEAFNESS WITH ANHIDROTIC ECTODERMAL DYSPLASIA (MIM125050). Nevertheless it is preferable to use precise descriptions of the phenotypic abnormalities and this term should not be used for new annotations. It will be made obsolete in the future. xref: MeSH:D004476 "Ectodermal Dysplasia" xref: UMLS:C0013575 "Ectodermal Dysplasia" is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0000969 name: Edema alt_id: HP:0000990 def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:probinson] comment: Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability. synonym: "Hydrops" EXACT [] synonym: "Oedema" EXACT [] xref: MeSH:D004487 "Edema" xref: UMLS:C0013604 "Edema" is_a: HP:0011032 ! Abnormality of fluid regulation [Term] id: HP:0000970 name: Anhidrosis def: "Inability to sweat." [HPO:curators] xref: UMLS:C0003028 "ANHYDROSIS" is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0000971 name: Abnormality of the sweat gland def: "An abnormality of the `sweat gland` (FMA:59152)." [HPO:probinson] synonym: "Sweat gland disease" RELATED [] is_a: HP:0011138 ! Abnormality of skin adnexa [Term] id: HP:0000972 name: Palmoplantar hyperkeratosis 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:C1857046 "Palmoplantar hyperkeratosis" is_a: HP:0007556 ! Plantar hyperkeratosis is_a: HP:0010765 ! Palmar hyperkeratosis is_a: HP:0100871 ! Abnormality of the palm is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0000973 name: Cutis laxa def: "Wrinkled, redundant, inelastic and sagging skin." [HPO:probinson] synonym: "Lax skin" EXACT [] synonym: "Loose skin" EXACT [] synonym: "Skin laxity" EXACT [] xref: MeSH:D003483 "Cutis Laxa" xref: UMLS:C0010495 "Dermatochalasis" is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0000974 name: Hyperextensible skin alt_id: HP:0007389 alt_id: HP:0007493 alt_id: HP:0007578 def: "A condition in which the skin can be stretched beyond normal, and then returns to its initial position." [HPO:sdoelken] comment: Skin hyperelasticity is to be distinguished from cutis laxa, which refers to extra, redundant skin which tends to hang in folds. synonym: "Hyperelastic skin" EXACT [] synonym: "Skin hyperelasticity" EXACT [] synonym: "Skin hyperextensibility" EXACT [] synonym: "Stretchable skin" EXACT [] xref: UMLS:C1844593 "Hyperextensible skin" is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0000975 name: Hyperhidrosis def: "An abnormally increased perspiration." [HPO:probinson] synonym: "Sweating" EXACT [] xref: MeSH:D006945 "Hyperhidrosis" xref: UMLS:C0020458 "Hyperhidrosis" is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0000976 name: Eczematoid dermatitis xref: UMLS:C0013595 "Eczema" is_a: HP:0000964 ! Eczema [Term] id: HP:0000977 name: Soft skin synonym: "Velvety skin" RELATED [] xref: UMLS:C1844592 "Soft skin" is_a: HP:0010647 ! Abnormal elasticity of skin [Term] id: HP:0000978 name: Bruising susceptibility alt_id: HP:0000959 alt_id: HP:0007433 alt_id: HP:0007472 def: "An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma." [HPO:probinson] comment: An ecchymosis is defined as being larger than 1 cm in size. synonym: "Bruisability" EXACT [] synonym: "Easy bruisability" EXACT [] synonym: "Easy bruising" EXACT [] synonym: "Ecchymoses" RELATED [] xref: UMLS:C0013491 "Ecchymoses" is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000979 name: Purpura def: "Purpura (from Latin: purpura, meaning \"purple\") is the appearance of red or purple discolorations on the skin that do not blanch on applying pressure. They are caused by bleeding underneath the skin. This term refers to an abnormally increased susceptibility to developing purpura. Purpura are larger than petechiae." [HPO:probinson] xref: MeSH:D011693 "Purpura" xref: UMLS:C0034150 "Purpura" is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000980 name: Pallor def: "Abnormally `pale` (PATO:0000328) `skin` (FMA:7163)." [HPO:probinson] synonym: "Paleness" RELATED [] xref: MeSH:D010167 "Pallor" xref: UMLS:C0030232 "Pallor" is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0000982 name: Palmoplantar keratoderma synonym: "Palmar and plantar keratoderma" EXACT [] xref: MeSH:D007645 "Palmoplantar Keratoderma" is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0000987 name: Atypical scarring of skin def: "Atypically `scarred` (PATO:0001850) `skin` (FMA:7163) ." [HPO:sdoelken] synonym: "Atypical scarring" EXACT [] is_a: HP:0011354 ! Generalized abnormality of skin is_a: HP:0100699 ! Scarring [Term] id: HP:0000988 name: Skin rash xref: UMLS:C0015230 "Eruption" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0000989 name: Pruritus def: "Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus." [HPO:curators] xref: MeSH:D011537 "Pruritus" xref: UMLS:C0033774 "Pruritus" is_a: HP:0011122 ! Abnormality of skin physiology [Term] id: HP:0000991 name: Xanthomatosis def: "The presence of multiple xanthomas (xanthomata) in the skin. Xanthomas are yellowish, firm, lipid-laden nodules in the skin." [HPO:curators] synonym: "Xanthomata" EXACT [] xref: MeSH:D014973 "Xanthomatosis" xref: UMLS:C0043325 "Xanthomatosis" is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0000992 name: Cutaneous photosensitivity alt_id: HP:0005594 alt_id: HP:0006831 alt_id: HP:0007538 def: "An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin." [HPO:probinson] synonym: "Photosensitive skin" EXACT [] synonym: "Photosensitive skin rashes" EXACT [] synonym: "Photosensitivity" EXACT [] synonym: "Skin photosensitivity" EXACT [] synonym: "Sun sensitivity" EXACT [] xref: UMLS:C0349506 "Photosensitivity" is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0000993 name: Molluscoid pseudotumors def: "Bluish-grey, spongy nodules associated with scars over pressure points and easily traumatized areas like the elbows and knees." [HPO:probinson] synonym: "Molluscoid pseudotumor" EXACT [] xref: UMLS:C1844597 "Molluscoid pseudotumors" is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0000995 name: Pigmented nevi 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:probinson] synonym: "Melanocytic nevi" EXACT [] synonym: "Nevocellular nevi" EXACT [] synonym: "Pigmented naevi" EXACT [] xref: MeSH:D009508 "Nevus, Pigmented" is_a: HP:0001000 ! Abnormality of skin pigmentation is_a: HP:0003764 ! Nevus [Term] id: HP:0000996 name: Facial capillary hemangioma xref: UMLS:C1858545 "Facial capillary hemangioma" is_a: HP:0000329 ! Facial hemangioma is_a: HP:0005306 ! Capillary hemangiomas [Term] id: HP:0000997 name: Axillary freckling xref: UMLS:C1860335 "Axillary freckling" is_a: HP:0001480 ! Freckling [Term] id: HP:0000998 name: Hypertrichosis def: "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:probinson] xref: MeSH:D006983 "Hypertrichosis" xref: UMLS:C0020555 "Hypertrichosis" is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0000999 name: Pyoderma def: "Any manifestation of a skin disease associated with the production of pus." [HPO:probinson] comment: Pyoderma is mainly seen with bacterial skin infections but can also be observed in autoimmune conditions. xref: MeSH:D011711 "Pyoderma" xref: UMLS:C0034212 "Pyoderma" is_a: HP:0005406 ! Recurrent bacterial skin infections [Term] id: HP:0001000 name: Abnormality of skin pigmentation alt_id: HP:0007582 alt_id: HP:0200045 def: "An abnormality of the `pigmentation` (GO:0043473) of the `skin` (FMA:7163)." [HPO:probinson] synonym: "Abnormal pigmentation" EXACT [] synonym: "Abnormality of pigmentation" EXACT [] synonym: "Pigmentary changes" EXACT [] synonym: "Pigmentary skin changes" EXACT [] synonym: "Pigmentation" EXACT [] synonym: "Pigmentation anomaly" EXACT [] xref: UMLS:C1260926 "Abnormal pigmentation" is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0001001 name: Abnormality of subcutaneous fat tissue is_a: HP:0009124 ! Abnormality of adipose tissue is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001002 name: Decreased subcutaneous fat synonym: "Little subcutaneous fat" EXACT [] synonym: "Sparse subcutaneous fat" EXACT [] synonym: "Subcutaneous fat loss" EXACT [] xref: UMLS:C1835128 "Decreased subcutaneous fat" is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0001003 name: Multiple lentigines def: "Presence of an unusually high number of lentigines (singular: lentigo), which are flat, tan to brown oval spots." [HPO:probinson] comment: Lentigines are commonly (but not always) due to chronic sun exposure (solar lentigines; sometimes called liver spots) and occur most frequently on the face and back of the hands. xref: UMLS:C1328931 "Multiple lentigines" is_a: HP:0001034 ! Hypermelanotic macule [Term] id: HP:0001004 name: Lymphedema alt_id: HP:0003605 def: "Localized fluid retention and tissue swelling caused by a compromised `lymphatic system` (FMA:7162)." [HPO:sdoelken] synonym: "Lymphoedema" EXACT [] synonym: "Onset of lymphedema around puberty" EXACT [] xref: MeSH:D008209 "Lymphedema" xref: UMLS:C0024236 "LYMPHOEDEMA" is_a: HP:0000969 ! Edema [Term] id: HP:0001005 name: Dermatological manifestations of systemic disorders subset: secondary_consequence is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001006 name: Hypotrichosis alt_id: HP:0002551 alt_id: HP:0004525 alt_id: HP:0004874 def: "Congenital lack of hair growth." [HPO:probinson] comment: Unlike alopecia, which describes hair loss where formerly there was hair growth, hypotrichosis describes a situation where there wasn't any hair growth in the first place. synonym: "Congenital hypotrichosis" EXACT [] synonym: "Hypotrichosis, infantile" EXACT [] synonym: "Marked hypotrichosis" EXACT [] xref: MeSH:D007039 "Hypotrichosis" xref: UMLS:C0020678 "Hypotrichosis" is_a: HP:0002115 ! Sparse or absent hair is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0001007 name: Hirsutism def: "Abnormally increased hair growth referring to a male pattern of body hair (androgenic hair)." [HPO:sdoelken] xref: MeSH:D006628 "Hirsutism" xref: UMLS:C0019572 "Hirsutism" is_a: HP:0011362 ! Abnormal hair quantity [Term] id: HP:0001008 name: Accumulation of melanosomes in melanocytes is_a: HP:0011125 ! Abnormality of dermal melanosomes [Term] id: HP:0001009 name: Telangiectasia alt_id: HP:0001079 def: "Telangiectasias refer to small dilated blood vessels located near the surface of the skin or mucous membranes, measuring between 0.5 and 1 millimeter in diameter. Telangiectasia are located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips." [HPO:probinson] synonym: "Cutaneous telangiectasia" EXACT [] synonym: "Telangiectases" EXACT [] xref: MeSH:D013684 "Telangiectasis" xref: UMLS:C1963248 "Telangiectasia" is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001010 name: Hypopigmentation of the skin alt_id: HP:0005589 alt_id: HP:0007604 alt_id: HP:0007622 def: "A reduction of skin color related to a decrease in melanin production and deposition." [HPO:probinson] synonym: "Hypopigmentation" EXACT [] synonym: "Hypopigmented skin" EXACT [] synonym: "Skin hypopigmentation" RELATED [] xref: MeSH:D017496 "Hypopigmentation" xref: UMLS:C1844614 "Mild localized pigmentation abnormalities" xref: UMLS:C1876214 "HYPOPIGMENTATION" is_a: HP:0000980 ! Pallor is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001011 name: Diaphoresis (with pheochromocytoma) subset: secondary_consequence is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001012 name: Multiple lipomas def: "The presence of multiple lipomas (a type of benign tissue made of fatty tissue)." [HPO:sdoelken] comment: A lipoma is a benign tumor composed of fatty tissue. They are the most common form of soft tissue tumor and are usually soft to the touch, movable, and generally painless (but there is a separate entity of painful multiple lipomas which is a hereditary disease called Dercum disease or adiposis dolorosa). Many lipomas are small (under one centimeter diameter) but can enlarge to sizes greater than six centimeters. Lipomas are commonly found in adults from 40 to 60 years of age, but can also be found in children. synonym: "Lipomas" RELATED [] is_a: HP:0012031 ! Lipomatous tumor [Term] id: HP:0001013 name: Eruptive xanthomas def: "Eruptive xanthomas are yellow-orange-to-red-brown papules that are often surrounded by an erythematous halo. They appear in crops on the buttocks, extensor surfaces of the extremities, and flexural creases. Acutely, variable amounts of pruritus and pain occur." [pmid:12165227, pmid:22375975] comment: Eruptive xanthomas occur in the setting of chylomicronemia and hypertriglyceridemia. xref: UMLS:C0221252 "Eruptive xanthomas" is_a: HP:0000991 ! Xanthomatosis [Term] id: HP:0001014 name: Angiokeratoma def: "A vascular lesion defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction. Clinically, angiokeratoma presents as a small, raised, dark-red spot." [HPO:probinson, pmid:8993949] synonym: "Angiokeratomas" EXACT [] xref: MeSH:D000794 "Angiokeratoma" xref: UMLS:C0002985 "Angiokeratomas" is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001015 name: Prominent superficial veins xref: UMLS:C1837785 "Prominent superficial veins" is_a: HP:0002624 ! Venous abnormality is_a: HP:0007394 ! Prominent superficial blood vessels [Term] id: HP:0001017 name: Anemic pallor def: "A type of `pallor` (HP:0000980) that is secondary to the presence of `anemia` (HP:0001903)." [HPO:probinson] is_a: HP:0000980 ! Pallor [Term] id: HP:0001018 name: Abnormal palmar dermatoglyphics def: "An abnormality of the dermatoglyphs, i.e., an abnormality of the patterns of ridges of the `skin of palm of hand` (FMA:38301)." [HPO:probinson] is_a: HP:0007477 ! Abnormal dermatoglyphics is_a: HP:0100871 ! Abnormality of the palm [Term] id: HP:0001019 name: Erythroderma def: "An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever." [HPO:probinson] synonym: "Generalized erythroderma" EXACT [] synonym: "Generalized erythrodermia" EXACT [] xref: UMLS:C1863723 "Generalized erythrodermia" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001020 name: Soft, thin skin xref: UMLS:C1864982 "Soft thin skin" is_a: HP:0000963 ! Thin skin is_a: HP:0000977 ! Soft skin [Term] id: HP:0001022 name: Albinism def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina)." [HPO:sdoelken] xref: MeSH:D000417 "Albinism" xref: UMLS:C0001916 "Albinism" is_a: HP:0005599 ! Hypopigmentation of hair is_a: HP:0007513 ! Generalized hypopigmentation [Term] id: HP:0001024 name: Skin dimple over apex of long bone angulation is_a: HP:0010781 ! Skin dimples [Term] id: HP:0001025 name: Urticaria def: "Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure." [HPO:probinson] synonym: "Hives" EXACT [] xref: MeSH:D014581 "Urticaria" xref: UMLS:C0042109 "Urticaria" is_a: HP:0011276 ! Vascular skin abnormality [Term] id: HP:0001026 name: Penetrating foot ulcers is_a: HP:0200042 ! Skin ulcer [Term] id: HP:0001027 name: Soft, doughy skin xref: UMLS:C1844592 "Soft skin" is_a: HP:0000977 ! Soft skin [Term] id: HP:0001028 name: Hemangioma alt_id: HP:0007444 def: "A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma)." [HPO:probinson] synonym: "Hemangiomata" RELATED [] xref: MeSH:D006391 "Hemangioma" is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0100742 ! Vascular neoplasm [Term] id: HP:0001029 name: Poikiloderma def: "Poikiloderma refers to a patch of skin with (1) reticulated hypopigmentation and hyperpigmentation, (2) wrinkling secondary to epidermal atrophy, and (3) telangiectasias." [HPO:probinson] comment: Poikiloderma does not refer to a specific disease entity, but can be seen owing to a number of different causes. xref: UMLS:C0392777 "Poikiloderma" is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0001030 name: Fragile skin synonym: "Skin fragility" EXACT [] xref: UMLS:C0241181 "Fragile skin" is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001031 name: Subcutaneous lipoma def: "The presence of subcutaneous `lipoma` (MPATH:417)." [HPO:probinson] xref: UMLS:C1403035 "Subcutaneous lipomas" is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue is_a: HP:0001012 ! Multiple lipomas is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0001032 name: Absent distal interphalangeal creases def: "Absence of the distal interphalangeal flexion creases of the fingers." [HPO:curators] synonym: "Absence of skin creases over distal interphalangeal joints" EXACT [] synonym: "Aplasia of the distal interphalangeal creases" EXACT [] synonym: "Distal finger flexion creases absent" EXACT [] xref: UMLS:C1861349 "Absent distal interphalangeal creases" is_a: HP:0006109 ! Absent phalangeal crease [Term] id: HP:0001033 name: Facial flushing after alcohol intake subset: secondary_consequence is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001034 name: Hypermelanotic macule alt_id: HP:0007442 alt_id: HP:0007491 alt_id: HP:0007492 alt_id: HP:0100815 alt_id: HP:0200031 alt_id: HP:0200033 def: "A hyperpigmented circumscribed area of change in normal skin color without elevation or depression of any size." [DDD:cmoss] synonym: "Hyperpigmented macules" EXACT [] synonym: "Hyperpigmented skin patches" EXACT [] synonym: "Hyperpigmented spots" EXACT [] xref: UMLS:C1842774 "Hyperpigmented macules" is_a: HP:0007400 ! Irregular hyperpigmentation is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0001036 name: Parakeratosis def: "Abnormal formation of the keratinocytes of the epidermis characterized by persistence of nuclei, incomplete formation of keratin, and moistness and swelling of the keratinocytes." [HPO:probinson] comment: Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. Parakeratosis is observed as scaling in many conditions such as psoriasis. xref: MeSH:D010241 "Parakeratosis" xref: UMLS:C0030436 "Parakeratosis" is_a: HP:0011368 ! Epidermal thickening [Term] id: HP:0001038 name: Warfarin-induced skin necrosis subset: secondary_consequence is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001039 name: Atheroeruptive xanthoma xref: UMLS:C0302314 "Xanthoma" is_a: HP:0000991 ! Xanthomatosis [Term] id: HP:0001040 name: Multiple pterygia xref: UMLS:C1867448 "Pterygia, multiple" is_a: HP:0001059 ! Pterygia [Term] id: HP:0001041 name: Facial erythema alt_id: HP:0001068 def: "Redness of the skin of the face, caused by hyperemia of the capillaries in the lower layers of the skin." [HPO:probinson] synonym: "Ruddy face" RELATED [] xref: UMLS:C0239488 "FACIAL ERYTHEMA" is_a: HP:0010783 ! Erythema [Term] id: HP:0001042 name: High axial triradius is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0001043 name: Prominent scalp veins xref: UMLS:C1856542 "Prominent scalp veins" is_a: HP:0001015 ! Prominent superficial veins [Term] id: HP:0001045 name: Vitiligo xref: MeSH:D014820 "Vitiligo" xref: UMLS:C0042900 "Vitiligo" is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001046 name: Intermittent jaundice def: "Jaundice that is sometimes present, sometimes not." [HPO:curators] subset: secondary_consequence is_a: HP:0000952 ! Jaundice [Term] id: HP:0001047 name: Atopic dermatitis alt_id: HP:0007533 alt_id: HP:0007564 def: "A chronic inflammatory genetically determined disease of the skin manifested by lichenification, excoriation, and crusting, mainly on the flexural surfaces of the elbow and knee." [HPO:probinson] comment: In infants, atopic dermatitis is known as infantile eczema. synonym: "Atopic dermatitis, chronic" EXACT [] synonym: "Dermatitis, Atopic" EXACT [] xref: MeSH:D003876 "Dermatitis, Atopic" xref: UMLS:C0011615 "Dermatitis, Atopic" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001048 name: Cavernous hemangioma def: "The presence of a cavernous hemangioma. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma." [HPO:probinson] synonym: "Cavernous haemangioma" EXACT [] xref: MeSH:D006392 "Hemangioma, Cavernous" xref: UMLS:C0018920 "Cavernous Hemangiomas" is_a: HP:0001028 ! Hemangioma [Term] id: HP:0001049 name: Absent dorsal skin creases over affected joints is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0001050 name: Plethora comment: Related to polycythemia. xref: UMLS:C0232370 "Plethora" is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001051 name: Seborrheic dermatitis alt_id: HP:0007562 def: "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [HPO:curators] comment: Dandruff. synonym: "Dysseborrheic dermatitis" RELATED [] synonym: "Seborrhea" EXACT [] synonym: "Seborrheic eczema" EXACT [] xref: MeSH:D012628 "Dermatitis, Seborrheic" xref: UMLS:C0036508 "Seborrheic dermatitis" is_a: HP:0000964 ! Eczema [Term] id: HP:0001052 name: Nevus flammeus def: "A congenital vascular malformation consisting of superficial and deep dilated capillaries in the skin which produce a reddish to purplish discolouration of the skin." [HPO:sdoelken] synonym: "port-wine stain" EXACT [HPO:SKOEHLER] xref: UMLS:C0235752 "Naevus flammeus" is_a: HP:0003764 ! Nevus is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0001053 name: Hypopigmented skin patches is_a: HP:0001010 ! Hypopigmentation of the skin is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0001054 name: Numerous nevi synonym: "Multiple pigmented nevi" EXACT [] xref: UMLS:C1836894 "Numerous nevi" is_a: HP:0003764 ! Nevus is_a: HP:0010566 ! Hamartoma [Term] id: HP:0001055 name: Erysipelas def: "Increased susceptibility to erysipelas, as manifested by a medical history of repeated episodes of erysipelas, which is a superficial infection of the skin, typically involving the lymphatic system." [HPO:probinson] synonym: " St. Anthony's Fire" RELATED [] xref: MeSH:D004886 "Erysipelas" xref: UMLS:C0014733 "Erysipelas" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001056 name: Milia def: "Presence of multiple small cysts containing keratin (skin protein) and presenting as tiny pearly-white bumps just under the surface of the skin." [HPO:probinson] comment: Milia are a normal finding in newborn babies (40-50%), often occurring around the nose. xref: UMLS:C0345996 "Milia" is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0001057 name: Aplasia cutis congenita def: "A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs." [HPO:curators] xref: UMLS:C0282160 "Aplasia Cutis Congenita" is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0001058 name: Poor wound healing xref: UMLS:C1851789 "Poor wound healing" is_a: HP:0011354 ! Generalized abnormality of skin [Term] id: HP:0001059 name: Pterygia def: "Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [HPO:probinson] is_a: HP:0001367 ! Abnormal joint morphology is_a: HP:0011356 ! Regional abnormality of skin [Term] id: HP:0001060 name: Axillary pterygia xref: UMLS:C1844738 "Axillary pterygia" is_a: HP:0001059 ! Pterygia [Term] id: HP:0001061 name: Acne alt_id: HP:0005596 def: "A skin condition in which there is an increase in sebum secretion by the pilosebaceous apparatus associated with open comedones (blackheads), closed comedones (whiteheads), and pustular nodules (papules, pustules, and cysts)." [HPO:probinson] xref: UMLS:C0702166 "Acne" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001062 name: Atypical nevi (>5mm with irregular edge and pigmentation) is_a: HP:0003764 ! Nevus [Term] id: HP:0001063 name: Acrocyanosis xref: UMLS:C0221347 "Acrocyanosis" is_a: HP:0000961 ! Cyanosis [Term] id: HP:0001064 name: Diaphoresis alt_id: HP:0007424 def: "Abnormal excessive sweating." [HPO:curators] synonym: "Increased sweating" EXACT [] xref: UMLS:C0700590 "Diaphoresis" is_a: HP:0000971 ! Abnormality of the sweat gland [Term] id: HP:0001065 name: Striae distensae alt_id: HP:0001023 alt_id: HP:0001066 alt_id: HP:0100680 def: "Thinned, erythematous, depressed bands of atrophic skin. Initially, striae appear as flattened and thinned, pinkish linear regions of the skin. Striae tend to enlarge in length and become reddish or purplish. Later, striae tend to appear as white, depressed bands that are parallel to the lines of skin tension. Striae distensae occur most often in areas that have been subject to distension such as the lower back, buttocks, thighs, breast, abdomen, and shoulders." [HPO:curators] synonym: "Purplish striae" EXACT [] synonym: "Stretch marks" RELATED [] synonym: "Striae" EXACT [] synonym: "Striae atrophicae" EXACT [] synonym: "Striae cutis distensae" EXACT [] xref: MeSH:D057896 "Striae Distensae" xref: UMLS:C1963160 "Striae" is_a: HP:0004334 ! Dermal atrophy is_a: HP:0100679 ! Lack of skin elasticity [Term] id: HP:0001067 name: Neurofibromas alt_id: HP:0006746 alt_id: HP:0007386 alt_id: HP:0007612 def: "The presence of multiple cutaneous neurofibromas." [HPO:probinson] synonym: "multiple neurofibromas" RELATED [] synonym: "Neurofibromata" EXACT [] synonym: "Neurofibromatosis" EXACT [] xref: UMLS:C0027830 "Neurofibromas" is_a: HP:0008069 ! Neoplasm of the skin is_a: HP:0010614 ! Fibroma is_a: HP:0100007 ! Neoplasm of the peripheral nervous system [Term] id: HP:0001069 name: Hyperhidrosis, episodic is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0001070 name: Mottled pigmentation alt_id: HP:0007584 def: "Patchy and irregular skin pigmentation." [HPO:probinson] synonym: "Stippled pigmentation" RELATED [] xref: UMLS:C0860439 "Mottled pigmentation" is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001071 name: Angiokeratoma corporis diffusum xref: UMLS:C0002986 "Angiokeratoma Corporis Diffusum" is_a: HP:0001014 ! Angiokeratoma [Term] id: HP:0001072 name: Thickened skin alt_id: HP:0007393 def: "Laminary thickening of skin." [HPO:sdoelken] synonym: "Diffusely thickened skin" RELATED [] synonym: "Pachydermia" EXACT [] xref: UMLS:C0241165 "Thickened skin" is_a: HP:0011121 ! Abnormality of skin morphology [Term] id: HP:0001073 name: Cigarette-paper scars synonym: "'cigarette paper scarring'" EXACT [] synonym: "Cigarette paper scarring" EXACT [] xref: UMLS:C1851828 "'Cigarette paper scarring'" is_a: HP:0001075 ! Atrophic scars [Term] id: HP:0001074 name: Atypical nevi in non-sun exposed areas is_a: HP:0003764 ! Nevus [Term] id: HP:0001075 name: Atrophic scars alt_id: HP:0007567 synonym: "Thin, atrophic scars" EXACT [] xref: UMLS:C0162154 "Atrophic scars" is_a: HP:0000987 ! Atypical scarring of skin is_a: HP:0004334 ! Dermal atrophy [Term] id: HP:0001076 name: Glabellar hemangioma synonym: "Glabellar capillary hemangioma" EXACT [] xref: UMLS:C1857261 "Glabellar hemangioma" is_a: HP:0001028 ! Hemangioma [Term] id: HP:0001080 name: Biliary tract abnormality def: "An abnormality of the `biliary tree` (FMA:14665)." [HPO:probinson] synonym: "Biliary tract disease" RELATED [] xref: UMLS:C0549613 "BILIARY TRACT ABNORMALITY" is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0001081 name: Cholelithiasis def: "Hard, pebble-like deposits that form within the `gallbladder` (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: MeSH:D002769 "Cholelithiasis" xref: UMLS:C0947622 "CHOLELITHIASIS" is_a: HP:0005264 ! Abnormality of the gallbladder [Term] id: HP:0001082 name: Cholecystitis def: "The presence of `inflammatory` (PATO:0002104) changes in the `gallbladder` (FMA:7202)." [HPO:probinson] xref: MeSH:D002764 "Cholecystitis" xref: UMLS:C1963083 "Cholecystitis" is_a: HP:0005264 ! Abnormality of the gallbladder [Term] id: HP:0001083 name: Ectopia lentis alt_id: HP:0000665 alt_id: HP:0007637 alt_id: HP:0007882 alt_id: HP:0008016 def: "Dislocation or malposition of the crystalline lens of the eye. A partial displacement (or dislocation) of the lens is described as a subluxation of the lens, while a complete displacement is termed luxation of the lens. A complete displacement occurs if the lens is completely outside the patellar fossa of the lens, either in the anterior chamber, in the vitreous, or directly on the retina. If the lens is partially displaced but still contained within the lens space, then it is termed subluxation." [HPO:probinson] synonym: "Abnormality of lens position" EXACT [] synonym: "Dislocated lens" EXACT [] synonym: "Dislocated lenses" EXACT [] synonym: "Lens dislocation" EXACT [] xref: MeSH:D004479 "Ectopia lentis" xref: UMLS:C0013581 "Ectopia Lentis" xref: UMLS:C0023309 "Lens dislocation" is_a: HP:0000517 ! Abnormality of the lens [Term] id: HP:0001084 name: Corneal arcus alt_id: HP:0100741 def: "A hazy, grayish-white ring about 2 mm in width located close to but separated from the limbus (the corneoscleral junction). Corneal arcus generally occurs bilaterally, and is related to lipid deposition in the cornea. Corneal arcus can occur in elderly persons as a part of the aging process but may be associated with hypercholesterolemia in people under the age of 50 years." [HPO:curators] comment: A grey opaque line which surrounds the margin of the cornea caused by lipid deposits. synonym: "Anterior embryotoxon" EXACT [] synonym: "Arcus lipoidis" EXACT [] synonym: "Arcus senilis" EXACT [] synonym: "Corneal annulus" EXACT [] synonym: "Gerontoxon" EXACT [] xref: MeSH:D001112 "Arcus Senilis" xref: UMLS:C0003742 "Corneal Arcus" is_a: HP:0008011 ! Peripheral opacification of the cornea [Term] id: HP:0001085 name: Papilledema alt_id: HP:0001130 def: "Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure." [HPO:probinson] xref: MeSH:D010211 "Papilledema" xref: UMLS:C0155288 "Papilledema" is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001087 name: Congenital glaucoma xref: UMLS:C0020302 "Congenital glaucoma" is_a: HP:0000501 ! Glaucoma [Term] id: HP:0001088 name: Brushfield spots def: "The presence of whitish spots in a ring-like arrangement at the periphery of the iris." [HPO:probinson] comment: Brushfield spots are relatively common in the general population but opccur more frequently in persons with certain disorders (especially Down syndrome). synonym: "Iris brushfield spots" EXACT [] xref: UMLS:C1303007 "Brushfield spots" is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0001089 name: Iris atrophy def: "Atrophy of the `iris` (FMA:58235)." [HPO:probinson] xref: UMLS:C0423319 "Iris atrophy, NOS" is_a: HP:0000525 ! Abnormality of the iris [Term] id: HP:0001090 name: Large eyes xref: UMLS:C1855852 "Large eyes" is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0001092 name: Absent lacrimal puncta alt_id: HP:0007977 def: "No identifiable superior and/or inferior lacrimal punctum." [pmid:19125427] comment: The lacrimal puncta (openings of the tear ducts) are normally located at the medial margin of each eyelid. The opening on the lower eyelid border is more visible than the opening on the upper eyelid border. synonym: "Absent lacrimal gland puncta" EXACT [] synonym: "Absent lacrimal openings" EXACT [] synonym: "Agenesis of the lacrimal punctum" RELATED [] synonym: "Aplasia of lacrimal puncta" EXACT [] synonym: "Lacrimal puncta aplasia" EXACT [] synonym: "Lacrimal punctum, absence" EXACT [] xref: UMLS:C1851881 "Absent lacrimal puncta" is_a: HP:0011479 ! Abnormality of the lacrimal punctum [Term] id: HP:0001093 name: Optic nerve dysplasia def: "The presence of `developmental dysplasia` (MPATH:64) of the `optic nerve` (FMA:50863)." [HPO:probinson] is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001094 name: Iridocyclitis def: "A type of anterior uveitis, in which there is Inflammation of the iris and the ciliary body." [HPO:probinson] xref: MeSH:D015863 "Iridocyclitis" xref: UMLS:C0022073 "Iridocyclitis" is_a: HP:0012122 ! Anterior uveitis [Term] id: HP:0001095 name: Hypertensive retinopathy subset: secondary_consequence xref: MeSH:D058437 "Hypertensive Retinopathy" xref: UMLS:C0152132 "Hypertensive Retinopathy" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001096 name: Keratoconjunctivitis def: "Inflammation of the cornea and conjunctiva." [HPO:probinson] xref: MeSH:D007637 "Keratoconjunctivitis" xref: UMLS:C0022573 "Keratoconjunctivitis" is_a: HP:0000491 ! Keratitis is_a: HP:0000509 ! Conjunctivitis [Term] id: HP:0001097 name: Keratoconjunctivitis sicca def: "Dryness of the eye related to deficiency of the tear film components (aqueous, mucin, or lipid), lid surface abnormalities, or epithelial abnormalities. Keratoconjunctivitis sicca often results in a scratchy or sandy sensation (foreign body sensation) in the eyes, and may also be associated with itching, inability to produce tears, photosensitivity, redness, pain, and difficulty in moving the eyelids." [HPO:probinson] synonym: "Dry eye syndrome" RELATED [] synonym: "Keratitis sicca" EXACT [] synonym: "Xerophthalmia" EXACT [] xref: MeSH:D007638 "Keratoconjunctivitis Sicca" xref: UMLS:C0553844 "keratoconjunctivitis sicca" is_a: HP:0001096 ! Keratoconjunctivitis [Term] id: HP:0001098 name: Abnormality of the fundus is_a: HP:0004329 ! Abnormality of the posterior segment of the eye [Term] id: HP:0001099 name: Fundus atrophy is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0001100 name: Heterochromia iridis def: "Heterochromia iridis is a difference in the color of the `iris` (FMA:58235) in the two eyes." [HPO:probinson] synonym: "Heterochromia irides" EXACT [] xref: UMLS:C0423318 "heterochromia" is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0001101 name: Iritis def: "Inflammation of the `iris` (FMA:58235)." [HPO:probinson] xref: MeSH:D007500 "Iritis" xref: UMLS:C0022081 "Iritis" is_a: HP:0000525 ! Abnormality of the iris [Term] id: HP:0001102 name: Angioid streaks of the retina def: "Bilateral, narrow, irregular lines inferior to the retina and emanating in a radiating fashion from the optic disc." [HPO:probinson] comment: Angioid streaks result from breaks in a weakened Bruch's membrane. synonym: "Angioid streaks" EXACT [] synonym: "Angioid streaks, retina" EXACT [] xref: MeSH:D000793 "Angioid streaks" xref: UMLS:C0002982 "Angioid Streaks" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001103 name: Abnormality of the macula def: "An abnormality of the `macula lutea` (FMA:58637) is an oval-shaped highly pigmented yellow spot near the center of the retina." [HPO:probinson] synonym: "Macula abnormality" EXACT [] synonym: "Macular abnormality" EXACT [] xref: UMLS:C0730362 "Macula abnormality" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001104 name: Macular hypoplasia xref: UMLS:C1849412 "Macular hypoplasia" is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula [Term] id: HP:0001105 name: Retinal atrophy xref: UMLS:C0521694 "Retinal atrophy" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001106 name: Periorbital hyperpigmentation def: "Increased pigmentation of the skin in the region surrounding the orbit of the eye." [HPO:probinson] xref: UMLS:C1844606 "Periorbital hyperpigmentation" is_a: HP:0000606 ! Abnormality of the periorbital region is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001107 name: Ocular albinism alt_id: HP:0007745 alt_id: HP:0007837 def: "An abnormal reduction in the amount of pigmentation (reduced or absent) of the `iris` (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. synonym: "Albinism, Ocular" EXACT [] xref: MeSH:D016117 "Albinism, Ocular" xref: UMLS:C0078917 "Albinism, Ocular" is_a: HP:0001098 ! Abnormality of the fundus is_a: HP:0007730 ! Iris hypopigmentation [Term] id: HP:0001112 name: Leber optic atrophy alt_id: HP:0001086 def: "Degeneration of retinal ganglion cells and their axons." [HPO:probinson] synonym: "Leber optic atrophy features" EXACT [] xref: UMLS:C0917796 "Leber Optic Atrophy" is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001113 name: Early cataracts xref: UMLS:C1835120 "Early cataracts" is_obsolete: true [Term] id: HP:0001114 name: Xanthelasma def: "The presence of xanthomata in the skin of the eyelid." [HPO:curators] xref: UMLS:C0302314 "Xanthoma" is_a: HP:0000991 ! Xanthomatosis is_a: HP:0010604 ! Cysts of the eyelid [Term] id: HP:0001115 name: Posterior polar cataract def: "A `polar cataract` (HP:0010696) that affects the `posterior pole of the lens` (FMA:58898)." [HPO:probinson] xref: UMLS:C1861837 "Posterior polar cataract" is_a: HP:0010696 ! Polar cataract [Term] id: HP:0001116 name: Macular coloboma def: "A congenital defect of the macula distinct from coloboma associated with optic fissure closure defects." [DDD:gblack] xref: UMLS:C1857620 "Macular coloboma" is_a: HP:0000480 ! Retinal coloboma is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0001117 name: Sudden central visual loss is_a: HP:0001123 ! Visual field defect [Term] id: HP:0001118 name: Juvenile cataract def: "A type of cataract that is not apparent at birth but that arises in childhood or adolescence." [HPO:probinson] comment: Juvenile cataracts are generally either hereditary (especially if bilateral) or due to trauma (especially if unilateral). xref: UMLS:C0302254 "Juvenile cataract" is_a: HP:0000518 ! Cataract [Term] id: HP:0001119 name: Keratoglobus def: "Limbus-to-limbus corneal thinning, often greatest in the periphery, with globular protrusion of the cornea." [pmid:19667340] xref: UMLS:C0344530 "Keratoglobus" is_a: HP:0100689 ! Decreased corneal thickness is_a: HP:0100692 ! Increased corneal curvature [Term] id: HP:0001120 name: Abnormality of corneal size def: "Any abnormality of the size or morphology of the cornea." [HPO:curators] is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0001122 name: Aplasia/Hypoplasia of the choroid def: "Absence or underdevelopment of the `choroid` (FMA:58298)." [HPO:probinson] is_a: HP:0000610 ! Abnormality of the choroid is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus created_by: peter creation_date: 2008-04-02T03:23:00Z [Term] id: HP:0001123 name: Visual field defect synonym: "VISUAL FIELD DEFECTS" EXACT [HPO:skoehler] xref: UMLS:C0036454 "Visual field defects NOS" is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0001125 name: Hemianopic blurring of vision alt_id: HP:0000583 def: "Transient hemianopsia associated with the aura phase of migraine." [HPO:probinson] comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. synonym: "Hemianopic blurring" RELATED [] synonym: "Hemianoptic blurring of vision" EXACT [] is_a: HP:0000505 ! Visual impairment [Term] id: HP:0001126 name: Cryptophthalmos alt_id: HP:0008032 def: "Cryptophthalmos is a condition of total absence of eyelids and the skin of forehead is continuous with that of cheek, in which the eyeball is completely concealed by the skin, which is stretched over the orbital cavity." [HPO:curators, pmid:19125427] comment: Failure of eyelid formation. Crypopthalmos is typically associated with a rudimentary or small globe. Frequently, a tuft of hair accompanies the aberrant skin. xref: UMLS:C0311249 "Cryptophthalmos" is_a: HP:0100886 ! Abnormality of globe location is_a: HP:0100887 ! Abnormality of globe size [Term] id: HP:0001128 name: Trichiasis def: "Inversion and rubbing of the eyelashes against the globe of the eye." [HPO:curators] comment: Eyelash inversion. xref: MeSH:D058457 "Trichiasis" xref: UMLS:C0221259 "Trichiasis" is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0001129 name: Large central visual field defect is_a: HP:0001123 ! Visual field defect [Term] id: HP:0001131 name: Corneal dystrophy alt_id: HP:0007775 def: "An `abnormality of the cornea` (HP:0000481) that is characterized by opacity of one or parts of the cornea." [HPO:probinson] xref: UMLS:C0010036 "Corneal dystrophy" is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0001132 name: Lens subluxation def: "Partial dislocation of the lens of the eye." [HPO:probinson] comment: Partial dislocation of the lens of the eye can be recognized by trembling of the iris (iridodonesis). xref: MeSH:D007906 "Lens Subluxation" xref: UMLS:C0023316 "Lens Subluxation" is_a: HP:0001083 ! Ectopia lentis [Term] id: HP:0001133 name: Constricted visual fields alt_id: HP:0007887 synonym: "Depressed visual field" EXACT [] synonym: "Reduced visual fields" EXACT [] synonym: "Visual field constriction" EXACT [] xref: UMLS:C1849268 "Reduced visual fields" is_a: HP:0001123 ! Visual field defect [Term] id: HP:0001134 name: Anterior polar cataract def: "A `polar cataract` (HP:0010696) that affects the `anterior pole of the lens` (FMA:58897)." [HPO:probinson] xref: UMLS:C1855179 "CATARACT, ANTERIOR POLAR" is_a: HP:0010696 ! Polar cataract [Term] id: HP:0001135 name: Chorioretinal dystrophy xref: UMLS:C1857627 "Chorioretinal dystrophy" is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0001136 name: Retinal arteriolar tortuosity def: "The presence of an increased number of twists and turns of the retinal arterioles." [HPO:probinson] synonym: "Tortuous retinal arterioles" EXACT [] xref: UMLS:C1843517 "Retinal arteriolar tortuosity" is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0001137 name: Alternating esotropia xref: UMLS:C0152205 "Alternating esotropia" is_a: HP:0000565 ! Esotropia [Term] id: HP:0001138 name: Optic neuropathy alt_id: HP:0007806 xref: UMLS:C0029132 "Optic Neuropathy" is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001139 name: Choroideremia xref: MeSH:D015794 "Choroideremia" xref: UMLS:C0008525 "Choroideraemia" is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0001140 name: Epibulbar dermoids def: "An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)." [HPO:probinson] synonym: "Epibulbar dermoid" EXACT [] xref: UMLS:C1867616 "Epibulbar dermoids" is_a: HP:0000481 ! Abnormality of the cornea is_a: HP:0000502 ! Abnormality of the conjunctiva is_a: HP:0000591 ! Abnormality of the sclera [Term] id: HP:0001141 name: Severe visual impairment alt_id: HP:0007640 alt_id: HP:0007842 alt_id: HP:0007951 alt_id: HP:0008023 synonym: "Marked vision impairment" EXACT [] synonym: "Severely impaired vision" EXACT [] xref: UMLS:C1301509 "Severe visual impairment" is_a: HP:0000505 ! Visual impairment [Term] id: HP:0001142 name: Lenticonus def: "A conical projection of the anterior or posterior surface of the lens, occurring as a developmental anomaly." [DDD:ncarter] comment: A conical projection of the anterior or posterior surface of the lens. xref: UMLS:C0239119 "Lenticonus" is_a: HP:0011526 ! Abnormality of lens shape [Term] id: HP:0001144 name: Orbital cysts 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 "Orbital cysts" is_a: HP:0000315 ! Abnormality of the orbital region [Term] id: HP:0001145 name: Chorioretinopathy alt_id: HP:0007888 xref: UMLS:C0339383 "Chorioretinopathy" xref: UMLS:C1844750 "Bilateral chorioretinopathy" is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0001146 name: Pigmentary retinal degeneration alt_id: HP:0007934 synonym: "Retinal pigmentary degeneration" EXACT [] xref: UMLS:C1833999 "Pigmentary retinal degeneration" is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0001147 name: Retinal exudate def: "Fluid which has escaped from retinal bllod vessels with a high concentration of lipid, protein, and cellular debris with a typically bright, reflective, white or cream colored appearance on the surface of the retina." [HPO:probinson] comment: Retinal exudates indicate increased vessel permeability and an associated risk of retinal edema. xref: UMLS:C0240897 "RETINAL EXUDATE" is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001149 name: Lattice corneal dystrophy def: "The presence of fine, branching linear opacities in Bowman's layer in the central area that may spread to the periphery in the clinical course. The deep corneal stroma may be involved but the process does not reach Descemet's membrane. Recurrent corneal erosion may occur. Histologic examination reveals amyloid deposits in the collagen fibers of the cornea." [HPO:curators] xref: UMLS:C1527170 "Lattice corneal dystrophy" is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0001150 name: Choroidal sclerosis alt_id: HP:0007884 def: "Choroidal sclerosis is a descriptive term applied to the ophthalmoscopic appearance of prominent white choroidal vessels in which the blood columns are not seen or are sheathed by white lines." [HPO:probinson, pmid:4694397] synonym: "Choroidal vessel sclerosis" EXACT [] xref: UMLS:C0344297 "Choroidal sclerosis" is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0001151 name: Impaired horizontal smooth pursuit def: "An `abnormality of ocular smooth pursuit` (HP:0000617) characterized by an impairment of the ability to track horizontally moving objects." [HPO:probinson] synonym: "Impaired horizontal visual pursuit" EXACT [] xref: UMLS:C1866753 "Impaired horizontal smooth pursuit" is_a: HP:0007772 ! Impaired smooth pursuit [Term] id: HP:0001152 name: Saccadic smooth pursuit alt_id: HP:0000530 def: "An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements." [HPO:probinson] comment: Tracking eye movements consist of two different components, namely, smooth pursuit and saccades. Smooth pursuit, or just pursuit, is a class of rather slow eye movements that minimizes retinal target motion. Saccades are rapid eye movements that align the fovea with the target. synonym: "Saccadic pursuit movements" EXACT [] synonym: "Saccadic slow pursuit" EXACT [] xref: UMLS:C1836479 "Saccadic pursuit movements" xref: UMLS:C1853405 "Saccadic smooth pursuit" is_a: HP:0000617 ! Abnormality of ocular smooth pursuit [Term] id: HP:0001153 name: Septate vagina def: "The presence of a vaginal septum, thereby creating a vaginal duplication. The septum is longitudinal in the majority of cases." [HPO:curators] xref: UMLS:C0266411 "Septate vagina" is_a: HP:0000142 ! Abnormality of the vagina [Term] id: HP:0001155 name: Abnormality of the hand alt_id: HP:0005858 def: "An abnormality affecting one or both hands." [HPO:curators] synonym: "Hand anomalies" EXACT [] synonym: "Hand deformities" EXACT [] xref: UMLS:C0018564 "Hand deformities" is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0001156 name: Brachydactyly syndrome alt_id: HP:0001189 alt_id: HP:0001201 alt_id: HP:0005630 alt_id: HP:0005657 alt_id: HP:0005727 alt_id: HP:0006017 alt_id: HP:0006128 alt_id: HP:0100667 def: "Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used to describe a series of Mendelian diseases characterized by distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here, however, it is preferable to described the observed phenotypic abnormalities precisely." [HPO:probinson] xref: MeSH:D059327 "Brachydactyly" xref: UMLS:C1836188 "Severe brachydactyly" is_a: HP:0011927 ! Short digit [Term] id: HP:0001159 name: Syndactyly alt_id: HP:0001206 alt_id: HP:0001236 def: "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. Bony fusions are revered to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers or toes in a proximo-distal axis are refered to as \"Symphalangism\"." [HPO:probinson] xref: MeSH:D013576 "Syndactyly" xref: UMLS:C0039075 "Syndactyly" is_a: HP:0011297 ! Abnormality of the digits [Term] id: HP:0001161 name: Polydactyly (hands) 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 [] is_a: HP:0009997 ! Duplication of phalanx of hand is_a: HP:0010442 ! Polydactyly [Term] id: HP:0001162 name: Postaxial polydactyly (hands) alt_id: HP:0004698 alt_id: HP:0005763 alt_id: HP:0009984 def: "Supernumerary digits located at the ulnar side of the hand (that is, on the side with the fifth finger)." [HPO:sdoelken] synonym: "Polydactyly affecting the 5th finger" EXACT [] synonym: "Polydactyly, postaxial" EXACT [] synonym: "Postaxial polydactyly of fingers" EXACT [] synonym: "Postaxial polydactyly of hand" EXACT [] synonym: "Postaxial polydactyly of hands" EXACT [] xref: UMLS:C0220697 "POLYDACTYLY, POSTAXIAL" is_a: HP:0001161 ! 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 def: "An abnormality of the `metacarpal bones`(FMA:71336)." [HPO:probinson] is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001166 name: Arachnodactyly alt_id: HP:0001505 def: "Abnormally long and slender fingers (\"spider fingers\")." [HPO:probinson] synonym: "Long slender fingers" EXACT [] synonym: "Long, slender fingers" EXACT [] xref: MeSH:D054119 "Arachnodactyly" is_a: HP:0001238 ! Slender finger is_a: HP:0010511 ! Long toe is_a: HP:0100807 ! Long fingers [Term] id: HP:0001167 name: Abnormality of finger alt_id: HP:0003035 def: "An anomaly of a `finger` (FMA:9666)." [HPO:probinson] comment: Abnormality of hands, feet, or both. synonym: "Abnormalities of the fingers" EXACT [] is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0011297 ! Abnormality of the digits [Term] id: HP:0001169 name: Broad palm alt_id: HP:0001174 def: "For children from birth to 4 years of age the palm width is more than 2 SD above the mean; for children from 4 to 16 years of age the palm width is above the 95th centile; or, the width of the palm appears disproportionately wide for the length." [HPO:probinson, pmid:19125433] comment: Hand width is measured across the palm at the level of the MCPJ (radial aspect of the second MCPJ to the ulnar aspect of the fifth MCPJ) [Hall et al., 2007]. Caution is advised with the subjective assessment as short metacarpals can mimic a broad palm. In persons with polydactyly that includes a supernumerary metacarpal, that should be separately coded and the measurement technique from Hall et al, [2007] would need to be modified to account for the supernumerary digit (i.e., with postaxial polydactyly, measure to the sixth MCPJ). synonym: "Broad hand" EXACT [] synonym: "Wide palm" EXACT [] xref: UMLS:C0264142 "Broad hands" xref: UMLS:C1849956 "Short broad hands" is_a: HP:0100871 ! Abnormality of the palm [Term] id: HP:0001171 name: Ectrodactyly (hands) 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:C1842987 "Claw hand deformities" is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0100257 ! Ectrodactyly [Term] id: HP:0001172 name: Abnormality of the thumb def: "An anomaly of the `thumb`(FMA:24938)." [HPO:probinson] synonym: "Abnormality of the thumbs" EXACT [] synonym: "Thumb deformity" EXACT [] xref: UMLS:C0575897 "THUMB DEFORMITY" is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0001176 name: Large hands alt_id: HP:0002820 alt_id: HP:0006044 alt_id: HP:0006219 synonym: "Disproportionately large hands" EXACT [] xref: UMLS:C0426870 "Large hands" is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001177 name: Preaxial polydactyly (hands) 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:C1395852 "THUMB POLYDACTYLY" 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: Ulnar claw def: "An abnormal hand position characterized by hyperextension of the fourth and fifth fingers at the metacarpophalangeal joints and flexion of the interphalangeal joints of the same fingers such that they are curled towards the palm." [HPO:probinson] comment: An ulnar claw, also known as claw hand, is an abnormal hand position that is associated with lesions of the ulnar nerve. Note that ulnar claw is to be distinguished from ectrodactyly, which also can be referred to as claw hand. is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001180 name: Oligodactyly (hands) def: "A developmental defect resulting in the presence of fewer than the normal number of fingers." [HPO:probinson] is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0012165 ! Oligodactyly [Term] id: HP:0001181 name: Adducted thumb alt_id: HP:0005646 def: "In the resting position, the tip of the thumb is on, or near, the palm, close to the base of the fourth or fifth finger." [pmid:19125433] comment: The thumb is both flexed and adducted. Lesser degrees of adduction than that specified here may warrant the use of this term, for example, when the tip of the thumb lies near the base of F2 or F3. synonym: "Adducted thumbs" EXACT [] xref: UMLS:C1832151 "Adducted thumbs" is_a: HP:0001172 ! Abnormality of the thumb [Term] id: HP:0001182 name: Tapered finger alt_id: HP:0005795 alt_id: HP:0005800 alt_id: HP:0006032 alt_id: HP:0006080 alt_id: HP:0006098 alt_id: HP:0006111 alt_id: HP:0006125 alt_id: HP:0006244 alt_id: HP:0007532 def: "The gradual reduction in girth of the digit from proximal to distal." [pmid:19125433] synonym: "Distally tapering fingers" EXACT [] synonym: "Tapered fingertips" EXACT [] synonym: "Tapering fingers" EXACT [] xref: UMLS:C0426886 "Tapering fingers" is_a: HP:0001167 ! Abnormality of finger is_a: HP:0100807 ! Long fingers [Term] id: HP:0001187 name: Hyperextensibility of the finger joints def: "The ability of the finger joints to move beyond their normal range of motion." [HPO:curators] synonym: "Hyperextensible digits" EXACT [] synonym: "Hyperextensible finger" EXACT [] synonym: "Hyperextensible fingers" RELATED [] xref: UMLS:C1835479 "Hyperextensible digits" is_a: HP:0001167 ! Abnormality of finger is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0001188 name: Hand clenching def: "An abnormal hand posture in which the hands are clenched to fists. All digits held completely flexed at the metacarpophalangeal and interphalangeal joints." [HPO:sdoelken, pmid:10085502] comment: Hand clenching is commonly characterized by malpositioning of the fingers characterized by radial deviation of the 4th and 5th digits and ulnar deviation of the 2nd digit over the 3rd finger. Hand clenching is distinguished from Camptodactyly, as that term may describe fewer than five digits of a eudactylous hand and does not involve the MCPJ. The digits may overlap when they lie flexed in the palm. It is not necessary to specify the overlapping fingers finding separately. synonym: "Clenched hands" EXACT [] xref: UMLS:C0018563 "Hands" is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001191 name: Abnormality of the carpal bones def: "An abnormality affecting the carpal bones of the wrist (scaphoid, lunate, triquetral, pisiform, trapezium, trapezoid, capitate, hamate)." [HPO:curators] synonym: "Abnormal carpal bones" EXACT [] synonym: "Anomalous carpal bones" EXACT [] synonym: "Carpal bone anomalies" EXACT [] xref: UMLS:C1861320 "Abnormal carpal bones" is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0001193 name: Ulnar deviation of the hand or of fingers of the hand synonym: "Ulnar deviation of hands" EXACT [] synonym: "Ulnar deviation of the hands" EXACT [] is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand [Term] id: HP:0001194 name: Abnormalities of placenta and umbilical cord def: "An abnormality of the placenta (the organ that connects the developing fetus to the uterine wall) or of the umbilical cord (the cord that connects the fetus to the placenta)." [HPO:curators] is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001195 name: Single umbilical artery def: "Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord." [HPO:probinson] comment: The umbilical cord normally has two arteries and one vein. xref: MeSH:D058529 "Single umbilical artery" xref: UMLS:C1384670 "Single umbilical artery" is_a: HP:0010948 ! Abnormality of the fetal cardiovascular system is_a: HP:0011403 ! Abnormal umbilical cord blood vessels is_a: HP:0011425 ! Fetal ultrasound soft marker [Term] id: HP:0001196 name: Short umbilical cord def: "Decreased length of the `umbilical cord` (FMA:85541)." [HPO:probinson] xref: UMLS:C0266786 "Short umbilical cord" is_a: HP:0010881 ! Abnormality of the umbilical cord [Term] id: HP:0001197 name: Abnormality of prenatal development or birth def: "An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities." [HPO:probinson] comment: Because of the close link between prenatal developmental abnormalities and abnormalities of the birth process, a single term is chosen to subsume both classes of abnormality. is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001199 name: Triphalangeal thumb alt_id: HP:0005846 alt_id: HP:0006194 alt_id: HP:0009610 def: "A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:probinson, pmid:19125433] comment: The requirement for a single PD axis relates to the issue that partial forms of Preaxial polydactyly may comprise a partially duplicated thumb with two distal phalanges and a single proximal phalanx. That finding is instead coded as a mild form of thumb polydactyly. Note that this finding can be readily assessed by examination and/or physical manipulation of the thumb. synonym: "Digitalized thumb" EXACT [] synonym: "Finger-like thumb" EXACT [] synonym: "Triphalangeal thumbs" EXACT [] synonym: "Triphalangy of thumb" EXACT [] xref: UMLS:C0241397 "Triphalangeal thumb" is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0009619 ! Accessory phalanx of the thumb [Term] id: HP:0001204 name: Distal symphalangism (hands) alt_id: HP:0006079 alt_id: HP:0006116 alt_id: HP:0009841 alt_id: HP:0009871 def: "The term distal symphalangism refers to a bony fusion of the distal and middle phalanges of the digits of the hand, in other words the distal interphalangeal joint (DIJ) is missing which can be seen either on x-rays or as an absence of the distal interphalangeal finger creases." [HPO:sdoelken] synonym: "Symphalangism affecting the distal phalanges of the hand" EXACT [] synonym: "Symphalangism, distal" EXACT [] synonym: "Synostosis of distal phalanges" EXACT [] synonym: "Terminal symphalangism" EXACT [] xref: UMLS:C1862158 "Terminal symphalangism" is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanx of finger is_a: HP:0100263 ! Distal symphalangism [Term] id: HP:0001211 name: Abnormality of the fingertips is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0001212 name: Prominent fingertip pads alt_id: HP:0001235 def: "A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist." [HPO:curators] synonym: "Persistence of fingerpads" EXACT [] synonym: "Persistent fetal fingertip pads" EXACT [] synonym: "Prominent finger pads" EXACT [] xref: UMLS:C1848512 "Prominent fingertip pads" is_a: HP:0001211 ! Abnormality of the fingertips is_a: HP:0011298 ! Prominent digit pad [Term] id: HP:0001215 name: Camptodactyly (2nd-5th fingers) def: "The distal interphalangeal joint and/or the proximal interphalangeal joint of the second to fifth fingers cannot be extended to 180 degrees by either active or passive extension." [HPO:probinson] is_a: HP:0100490 ! Camptodactyly of finger [Term] id: HP:0001216 name: Delayed ossification of carpal bones synonym: "Carpal delayed ossification" EXACT [] synonym: "Delayed carpal bone age" EXACT [] synonym: "Delayed carpal ossification" EXACT [] synonym: "Delayed maturation of carpal bones" EXACT [] xref: UMLS:C1841684 "Carpal delayed ossification" is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0001217 name: Clubbing alt_id: HP:0003036 alt_id: HP:0005874 def: "Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails." [HPO:sdoelken, pmid:19125433] comment: Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions (distal phalanges of the fingers). synonym: "Clubbing of fingers and toes" EXACT [] synonym: "Digital clubbing" EXACT [] xref: UMLS:C0149651 "Clubbing" is_a: HP:0011297 ! Abnormality of the digits [Term] id: HP:0001218 name: Autoamputation def: "Spontaneous detachment (amputation) of an appendage from the body." [HPO:probinson] xref: UMLS:C1833222 "Autoamputation" is_a: HP:0002813 ! Abnormality of limb bone morphology [Term] id: HP:0001220 name: Interphalangeal joint contractures (hands) synonym: "Interphalangeal joint flexion contractures" EXACT [] xref: UMLS:C1854605 "Interphalangeal joint flexion contractures" is_a: HP:0100490 ! Camptodactyly of finger [Term] id: HP:0001222 name: Spatulate thumbs def: "Spoon-shaped, broad thumbs." [HPO:curators] xref: UMLS:C0241395 "Spatulate thumbs" is_a: HP:0011304 ! Broad thumb [Term] id: HP:0001223 name: Pointed proximal second through fifth metacarpals def: "All of the metacarpal bones of the hand have a pointed proximal appearance." [HPO:curators] is_a: HP:0006119 ! Proximal tapering of metacarpals [Term] id: HP:0001225 name: Wrist swelling xref: UMLS:C0241760 "WRIST SWELLING" is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0001226 name: Acral ulceration and osteomyelitis leading to autoamputation of digits alt_id: HP:0005040 def: "Ulceration and osteomyelitis of the distal parts of the limbs associated with necrosis and spontaneous detachment of digits or parts of digits." [HPO:probinson] synonym: "Acral ulceration and osteomyelitis leading to autoamputation" EXACT [] is_a: HP:0007460 ! Autoamputation of digits is_a: HP:0200042 ! Skin ulcer [Term] id: HP:0001227 name: Abnormality of the thenar eminence def: "An abnormality of the thenar eminence, i.e., of the muscle on the palm of the human hand just beneath the thumb." [HPO:curators] synonym: "Thenar abnormality" EXACT [] is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0001230 name: Broad metacarpals alt_id: HP:0006024 alt_id: HP:0006065 def: "Abnormally broad metacarpal bones." [HPO:probinson] synonym: "Wide metacarpals" EXACT [] xref: UMLS:C1842229 "Broad metacarpals" is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0001231 name: Abnormality of the fingernails def: "An abnormality of the `fingernails` (FMA:54327)." [HPO:probinson] is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001232 name: Nail bed telangiectasia def: "Telangiectases in the area of the `nails` (FMA:54326)." [HPO:probinson] synonym: "Nail bed telangiectases" EXACT [] xref: UMLS:C1838167 "Nail bed telangiectases" is_a: HP:0001009 ! Telangiectasia is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001233 name: 2-3 finger syndactyly 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:C1839283 "Syndactyly 2nd-3rd fingers" is_a: HP:0006101 ! Finger syndactyly [Term] id: HP:0001234 name: Hitchhiker thumb def: "With the hand relaxed and the thumb in the plane of the palm, the axis of the thumb forms an angle of at least 90 degrees with the long axis of the hand." [HPO:probinson, pmid:19125433] comment: The condition known as "hitchhiker's thumb" means, that the distal phalanx of the thumb, when the thumb is extended (as in a "thumbs-up"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending. synonym: "Abducted thumb" EXACT [] xref: UMLS:C1857269 "Hitchhiker thumb" is_a: HP:0001172 ! Abnormality of the thumb is_a: HP:0009466 ! Radial deviation of finger is_a: HP:0009603 ! Deviation/Displacement of the thumb is_a: HP:0009617 ! Abnormality of the distal phalanx of the thumb [Term] id: HP:0001238 name: Slender finger def: "Digits are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual." [pmid:19125433] synonym: "Narrow fingers" EXACT [] synonym: "thin fingers" EXACT [] xref: UMLS:C1857482 "Slender fingers" is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0001239 name: Wrist flexion contracture alt_id: HP:0006049 alt_id: HP:0006137 def: "A chronic loss of wrist joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the wrist." [HPO:probinson] synonym: "Finger and wrist contractures" EXACT [] synonym: "Wrist contracture" EXACT [] synonym: "Wrist flexion deformity" EXACT [] xref: UMLS:C1850646 "Wrist contractures" is_a: HP:0003019 ! Abnormality of the wrist is_a: HP:0100360 ! Contractures of the joints of the upper limbs [Term] id: HP:0001241 name: Capitate-hamate fusion synonym: "Capitate-hamate fusions" EXACT [] synonym: "Fused capitate and hamate" EXACT [] synonym: "Fusion of capitate and hamate" EXACT [] synonym: "Fusion of hamate and capitate" EXACT [] xref: UMLS:C1857002 "Capitate-hamate fusion" is_a: HP:0004259 ! Abnormality of the hamate bone is_a: HP:0004262 ! Abnormality of the capitate bone is_a: HP:0009702 ! Carpal synostosis [Term] id: HP:0001245 name: Small thenar eminence alt_id: HP:0006188 def: "Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb." [HPO:probinson, pmid:19125433] comment: The reduced soft tissue is typically abductor pollicis brevis and flexor pollicis brevis muscle bulk. Detection of this abnormality entails clinical judgment, especially in mild cases. The bulk of the muscle mass around the base of the thumb is diminished, and there may be a mild concavity over the volar aspect of the first metacarpal. When the deficiency is unilateral, comparison between the two hands will point up the often-subtle change in contour of the thenar muscles. If the degree of involvement is severe, the palm may taper in width proximally. synonym: "Hypoplastic thenar eminences" EXACT [] synonym: "Thenar hypoplasia" EXACT [] synonym: "Thenar muscle hypoplasia" EXACT [] xref: UMLS:C1846474 "Thenar hypoplasia" is_a: HP:0001227 ! Abnormality of the thenar eminence [Term] id: HP:0001248 name: Short tubular bones (hand) is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001249 name: Intellectual disability alt_id: HP:0000730 alt_id: HP:0001267 alt_id: HP:0001286 alt_id: HP:0002122 alt_id: HP:0002192 alt_id: HP:0002316 alt_id: HP:0002382 alt_id: HP:0002386 alt_id: HP:0002402 alt_id: HP:0002458 alt_id: HP:0002482 alt_id: HP:0002499 alt_id: HP:0002543 alt_id: HP:0003767 alt_id: HP:0006833 alt_id: HP:0007154 alt_id: HP:0007176 alt_id: HP:0007180 def: "Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70." [HPO:probinson] comment: This term should be used for children at least five years old. For younger children, consider the term Global developmental delay (HP:0001263). synonym: "Dull intelligence" RELATED [] synonym: "Low intelligence" RELATED [] synonym: "Mental deficiency" EXACT [] synonym: "Mental retardation" EXACT [] synonym: "Mental retardation, nonspecific" EXACT [] synonym: "Mental-retardation" EXACT [] synonym: "Nonprogressive intellectual disability" EXACT [] synonym: "Nonprogressive mental retardation" EXACT [] synonym: "Poor school performance" RELATED [] xref: MeSH:D008607 "Intellectual Disability" xref: UMLS:C0025362 "Mental Retardation" xref: UMLS:C0423903 "Low intelligence" is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0001250 name: Seizures alt_id: HP:0001275 alt_id: HP:0001303 alt_id: HP:0002125 alt_id: HP:0002182 alt_id: HP:0002279 alt_id: HP:0002306 alt_id: HP:0002348 alt_id: HP:0002391 alt_id: HP:0002417 alt_id: HP:0002430 alt_id: HP:0002431 alt_id: HP:0002432 alt_id: HP:0002434 alt_id: HP:0002437 alt_id: HP:0002466 alt_id: HP:0002479 alt_id: HP:0002794 alt_id: HP:0006997 alt_id: HP:0010520 def: "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements. The term epilepsy is used to describe chronic, recurrent seizures." [HPO:probinson] comment: The term epilepsy is not used to describe recurrent febrile seizures. Epilepsy presumably reflects an abnormally reduced seizure threshold. synonym: "Epilepsy" RELATED [] synonym: "Seizure" EXACT [] xref: MeSH:D012640 "Seizures" xref: UMLS:C0036572 "Seizure" is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001251 name: Ataxia alt_id: HP:0001253 alt_id: HP:0002513 alt_id: HP:0007050 alt_id: HP:0007157 def: "Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly)." [HPO:probinson] comment: Ataxia can be differentiated into dyssynergy, asynergy, dysmetria (hypometria, hypermetria), dysdiadochokinesis, gait ataxia, truncal ataxia, limb ataxia, and dysarthria). Note: This term does not include sensory ataxia. synonym: "Cerebellar ataxia" EXACT [] xref: MeSH:D001259 "Ataxia" xref: UMLS:C0004134 "Ataxia" is_a: HP:0001317 ! Abnormality of the cerebellum is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0001252 name: Muscular hypotonia alt_id: HP:0001318 def: "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] synonym: "Muscle hypotonia" EXACT [] xref: MeSH:D009123 "Muscle Hypotonia" xref: UMLS:C0026827 "Hypotonia" is_a: HP:0003808 ! Abnormal muscle tone [Term] id: HP:0001254 name: Lethargy def: "A state of disinterestedness, listlessness, and indifference, resulting in difficulty performing simple tasks or concentrating." [HPO:probinson] xref: MeSH:D053609 "Lethargy" xref: UMLS:C0023380 "Lethargy" is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001256 name: Intellectual disability, mild alt_id: HP:0006908 alt_id: HP:0007119 def: "Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:probinson] synonym: "Mental retardation, borderline-mild" EXACT [] synonym: "Mental retardation, mild" RELATED [] synonym: "Mild and nonprogressive mental retardation" EXACT [] synonym: "Mild mental retardation" EXACT [] xref: UMLS:C0026106 "Mild Mental Retardation" is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0001257 name: Spasticity def: "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes." [HPO:probinson] synonym: "Muscle spasticity" EXACT [] synonym: "Muscular spasticity" EXACT [] xref: UMLS:C0026838 "Spasticity" is_a: HP:0001276 ! Hypertonia [Term] id: HP:0001258 name: Spastic paraplegia alt_id: HP:0007062 alt_id: HP:0007124 alt_id: HP:0007216 def: "Spasticity and weakness of the leg and hip muscles." [HPO:probinson] comment: This phenotypic feature is a major component of the disease hereditary spastic paraplegia, which has multiple distinct genetic etiologies. synonym: "Spastic paraplegia, lower limb" EXACT [] xref: UMLS:C0037772 "Spastic Paraplegia" is_a: HP:0002061 ! Lower limb spasticity is_a: HP:0010550 ! Paraplegia [Term] id: HP:0001259 name: Coma def: "Complete absence of wakefulness and content of conscience, which manifests itself as a lack of response to any kind of external stimuli." [HPO:probinson] comment: Coma is generally a result of diffuse or extensive involvement of both hemispheres of the brain or lesions in the brainstem. xref: ICD-10:R40.2 "Coma, unspecified" xref: MeSH:D003128 "Coma" xref: UMLS:C0009421 "Coma" is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001260 name: Dysarthria alt_id: HP:0002327 def: "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] synonym: "Dysarthric speech" EXACT [] xref: MeSH:D004401 "Dysarthria" xref: UMLS:C0013362 "Dysarthria" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0001262 name: Somnolence xref: UMLS:C0013144 "Drowsiness" is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001263 name: Global developmental delay alt_id: HP:0000754 alt_id: HP:0001255 alt_id: HP:0001277 alt_id: HP:0001292 alt_id: HP:0002433 alt_id: HP:0002473 alt_id: HP:0002532 alt_id: HP:0006793 alt_id: HP:0006867 alt_id: HP:0006885 alt_id: HP:0006935 alt_id: HP:0007005 alt_id: HP:0007094 alt_id: HP:0007106 alt_id: HP:0007174 alt_id: HP:0007224 alt_id: HP:0007228 alt_id: HP:0007342 def: "A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age." [DDD:hvfirth, HPO:sdoelken] comment: Developmental retardation is any significant lag in development in the any or all of the physical, cognitive, behavioral, emotional, or social spheres. Note that the term intellectual disability (mental retardation) refers to not merely a delay in development but rather a permanent limitation. Note that the term 'psychomotor retardation' is also used in some contexts to refer to a slowing of thought and physical movements as a result of major depression or intoxication. synonym: "Cognitive delay" RELATED [] synonym: "Delayed cognitive development" EXACT [] synonym: "Delayed development" EXACT [] synonym: "Delayed developmental milestones" EXACT [] synonym: "Delayed intellectual development" EXACT [] synonym: "Delayed milestones" EXACT [] synonym: "Delayed psychomotor development" EXACT [] synonym: "Developmental delay" EXACT [] synonym: "Developmental delay in early childhood" EXACT [] synonym: "Developmental delay, global" EXACT [] synonym: "Developmental retardation" EXACT [] synonym: "Lack of psychomotor development" EXACT [] synonym: "Mental and motor retardation" EXACT [] synonym: "Motor and developmental delay" EXACT [] synonym: "Psychomotor delay" EXACT [] synonym: "Psychomotor development deficiency" EXACT [] synonym: "Psychomotor development failure" EXACT [] synonym: "Psychomotor developmental delay" EXACT [] synonym: "Psychomotor retardation" EXACT [] synonym: "Psychomotor retardation, severe" EXACT [] synonym: "Retarded development" EXACT [] synonym: "Retarded mental development" EXACT [] synonym: "Retarded psychomotor development" EXACT [] xref: UMLS:C0557874 "Global developmental delay" is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0001264 name: Spastic diplegia def: "Spasticity (neuromuscular hypertonia) primarily in the muscles of the legs, hips, and pelvis." [HPO:curators] is_a: HP:0001257 ! Spasticity [Term] id: HP:0001265 name: Hyporeflexia alt_id: HP:0002467 def: "Reduction of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] synonym: "Decreased deep tendon reflexes" EXACT [] synonym: "Decreased tendon reflexes" EXACT [] synonym: "Depressed tendon reflexes" EXACT [] synonym: "Diminished deep tendon reflexes" EXACT [] xref: UMLS:C0151888 "Hyporeflexia" is_a: HP:0001315 ! Reduced tendon reflexes [Term] id: HP:0001266 name: Choreoathetosis alt_id: HP:0002469 alt_id: HP:0006811 alt_id: HP:0007028 alt_id: HP:0007337 def: "Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements)." [HPO:probinson] synonym: "Choreoathetoid movements" EXACT [] xref: UMLS:C0085583 "Choreoathetosis" is_a: HP:0002072 ! Chorea [Term] id: HP:0001268 name: Mental deterioration alt_id: HP:0002303 alt_id: HP:0006822 alt_id: HP:0007155 alt_id: HP:0007253 alt_id: HP:0007264 alt_id: HP:0007298 def: "Loss of previously present mental abilities, generally in adults." [HPO:probinson] synonym: "Cognitive decline" EXACT [] synonym: "Cognitive decline, progressive" EXACT [] synonym: "Intellectual deterioration" EXACT [] synonym: "Progressive cognitive decline" EXACT [] xref: UMLS:C0234985 "Mental deterioration" is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0001269 name: Hemiparesis def: "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] xref: UMLS:C0018989 "Hemiparesis" is_a: HP:0004374 ! Hemiplegia/hemiparesis [Term] id: HP:0001270 name: Motor delay alt_id: HP:0001307 alt_id: HP:0002130 alt_id: HP:0006788 alt_id: HP:0006826 alt_id: HP:0006909 alt_id: HP:0006950 alt_id: HP:0006968 alt_id: HP:0007219 alt_id: HP:0007251 def: "A type of `Developmental delay` (HP:0001263) characterized by a delay in acquiring motor skills." [HPO:probinson] synonym: "Delay in motor development" EXACT [] synonym: "Delayed early motor milestones" EXACT [] synonym: "Delayed motor development" EXACT [] synonym: "Delayed motor milestones" EXACT [] synonym: "Locomotor delay" EXACT [] synonym: "Motor developmental delay" EXACT [] synonym: "Motor developmental milestones not achieved" EXACT [] synonym: "Motor retardation" EXACT [] synonym: "No development of motor milestones" RELATED [] synonym: "Retarded motor development" EXACT [] xref: UMLS:C1854301 "Motor delay" xref: UMLS:C1858119 "Delayed early motor milestones" is_a: HP:0001263 ! Global developmental delay [Term] id: HP:0001271 name: Polyneuropathy alt_id: HP:0006941 alt_id: HP:0007287 def: "A generalized disorder of peripheral nerves." [HPO:curators] xref: MeSH:D011115 "Polyneuropathies" xref: UMLS:C0152025 "Polyneuropathy" is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001272 name: Cerebellar atrophy alt_id: HP:0002364 alt_id: HP:0006839 alt_id: HP:0007072 alt_id: HP:0007203 def: "Atrophy (wasting) of the cerebellum`(FMA:67944)." [HPO:probinson, pmid:12169461] comment: Cerebellar atrophy can be diagnosed if the cerebellum is small with shrunken folia and large cerebellar fissures or if it has been shown to undergo progressive volume loss. synonym: "Infratentorial atrophy" RELATED [] xref: UMLS:C0740279 "Cerebellar atrophy" is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0001273 name: Abnormality of the corpus callosum alt_id: HP:0007323 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. This finding can be demonstrated by cerebral magenitc resonance tomography. synonym: "Abnormal corpus callosum" EXACT [] synonym: "Corpus callosum abnormality" EXACT [] xref: UMLS:C1842581 "Abnormal corpus callosum" is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0001274 name: Agenesis of corpus callosum alt_id: HP:0006800 def: "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] synonym: "Absence of corpus callosum" EXACT [] synonym: "Absent corpus callosum" EXACT [] synonym: "Agenesis of the corpus callosum" EXACT [] synonym: "Callosal agenesis" EXACT [] synonym: "Corpus callosum agenesis" EXACT [] synonym: "Dysplastic or absent corpus callosum" EXACT [] xref: MeSH:D061085 "Agenesis of Corpus Callosum" xref: UMLS:C0175754 "Absent corpus callosum" is_a: HP:0006989 ! Dysplastic corpus callosum is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0001276 name: Hypertonia alt_id: HP:0002388 synonym: "Hypertonicity" EXACT [] synonym: "Increased muscle tone" EXACT [] synonym: "Muscle hypertonia" RELATED [] xref: MeSH:D009122 "Muscle Hypertonia" xref: UMLS:C0026826 "increased muscle tone" is_a: HP:0007256 ! Abnormality of pyramidal motor function [Term] id: HP:0001278 name: Orthostatic hypotension alt_id: HP:0006700 def: "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:probinson] synonym: "Postural hypotension" EXACT [] xref: MeSH:D007024 "Hypotension, Orthostatic" is_a: HP:0002270 ! Abnormality of the autonomic nervous system is_a: HP:0002615 ! Hypotension [Term] id: HP:0001279 name: Syncope def: "Syncope refers to a generalized weakness of muscles with loss of postural tone, inability to stand upright, and loss of consciousness. Once the patient is in a horizontal position, blood flow to the brain is no longer hindered by gravitation and consciousness is regained. Unconsciousness usually lasts for seconds to minutes. Headache and drowsiness (which usually follow seizures) do not follow a syncopal attack. Syncope results from a sudden impairment of brain metabolism usually due to a reduction in cerebral blood flow. This term refers to an abnormally increased disposition to syncope." [HPO:curators] xref: MeSH:D013575 "Syncope" xref: UMLS:C0039070 "Syncope" 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 def: "A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system." [MeSH:D013746] xref: MeSH:D013746 "Tetany" xref: UMLS:C0039621 "Tetany" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0001283 name: Bulbar palsy alt_id: HP:0003441 alt_id: HP:0003709 def: "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [HPO:curators] synonym: "Bulbar muscle weakness" EXACT [] synonym: "Bulbar palsies" EXACT [] synonym: "Bulbar weakness" EXACT [] xref: UMLS:C0030442 "Bulbar Palsy" is_a: HP:0001324 ! Muscle weakness is_a: HP:0002363 ! Abnormality of the brainstem [Term] id: HP:0001284 name: Areflexia alt_id: HP:0001314 def: "Absence of neurologic reflexes such as the knee-jerk reaction." [HPO:probinson] comment: The strectch reflexes (also called deep tendon relfexes) include the knee-jerk reflex (patellar reflex, the biceps reflex, the triceps reflex, and the ankle jerk reflex or Achilles tendon reflex). synonym: "Absent deep tendon reflexes" EXACT [] synonym: "Absent tendon reflexes" EXACT [] synonym: "Deep tendon reflexes absent" EXACT [] synonym: "Loss of deep tendon reflexes" EXACT [] xref: UMLS:C0234146 "Areflexia" is_a: HP:0001315 ! Reduced tendon reflexes [Term] id: HP:0001285 name: Spastic tetraparesis alt_id: HP:0002393 def: "Spastic weakness affecting all four limbs." [HPO:curators] synonym: "Spastic quadriparesis" EXACT [] xref: UMLS:C1853397 "Spastic tetraparesis" is_a: HP:0001257 ! Spasticity [Term] id: HP:0001287 name: Meningitis def: "`Inflammation` (MPATH:212) of the `meninges` (FMA:231572)." [HPO:probinson] xref: MeSH:D008581 "Meningitis" xref: UMLS:C0025289 "Meningitis" is_a: HP:0011450 ! CNS infection [Term] id: HP:0001288 name: Gait disturbance alt_id: HP:0006953 def: "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [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 "Gait disturbance" xref: UMLS:C1839568 "Impaired gait" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001289 name: Confusion alt_id: HP:0000731 def: "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] synonym: "Disorientation" EXACT [] xref: MeSH:D003221 "Confusion" xref: UMLS:C1963086 "Confusion" is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001290 name: Generalized hypotonia def: "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] synonym: "Generalized muscular hypotonia" EXACT [] synonym: "Hypotonia, generalized" EXACT [] xref: UMLS:C1858120 "Generalized hypotonia" is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0001291 name: Abnormality of the cranial nerves alt_id: HP:0003480 def: "Abnormality affecting one or more of the `cranial nerves` (FMA:5865), which emerge directly from the brain stem." [HPO:probinson] synonym: "Cranial nerve abnormality" RELATED [] synonym: "Cranial nerve disease" EXACT [] synonym: "Cranial nerve involvement" EXACT [] xref: UMLS:C1854510 "Cranial nerve involvement" is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001293 name: Cranial nerve compression xref: UMLS:C0521670 "Cranial nerve compression" is_a: HP:0001291 ! Abnormality of the cranial nerves [Term] id: HP:0001297 name: Stroke alt_id: HP:0002452 def: "Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain." [HPO:probinson] synonym: "Cerebral vascular events" EXACT [] synonym: "Cerebrovascular accident" EXACT [] xref: MeSH:D020521 "Stroke" xref: UMLS:C0038454 "Stroke" xref: UMLS:C1849743 "Cerebral vascular events" is_a: HP:0100659 ! Abnormality of the cerebral vasculature [Term] id: HP:0001298 name: Encephalopathy def: "The word encephalopathy is used to describe any diffuse disorder of the brain that alters brain function or structure." [HPO:probinson] xref: UMLS:C1963101 "Encephalopathy" is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001300 name: Parkinsonism def: "Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait." [HPO:probinson] synonym: "Parkinsonian disease" RELATED [] xref: UMLS:C0242422 "Parkinsonism" is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0001301 name: Chronic sensorineural polyneuropathy xref: UMLS:C1167650 "Chronic Polyneuropathy" is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001302 name: Pachygyria def: "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] synonym: "Cerebral pachygyria" EXACT [] xref: UMLS:C0266483 "Macrogyria" is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0001304 name: Torsion dystonia def: "Sustained involuntary muscle contractions that produce twisting and repetitive movements of the body." [HPO:probinson] synonym: "Dystonia musculorum deformans" EXACT [] xref: UMLS:C0013423 "Torsion Dystonia" is_a: HP:0001332 ! Dystonia [Term] id: HP:0001305 name: Dandy-Walker malformation alt_id: HP:0001313 alt_id: HP:0006809 def: "A congenital brain malformation typically characterized by incomplete formation of the cerebellar vermis, dilation of the fourth ventricle, and enlargement of the posterior fossa. In layman's terms, Dandy Walker malformation is a cyst in the cerebellum (typically symmetrical) that is involved with the fourth ventricle. This may interfere with the ability to drain cerebrospinal fluid from the brain, resulting in hydrocephalus. Dandy Walker cysts are formed during early embryonic development, while the brain forms. The cyst in the cerebellum typically has several blood vessels running through it connecting to the brain, thereby prohibiting surgical removal." [HPO:probinson] synonym: "Dandy-walker anomaly" EXACT [] synonym: "Dandy-Walker cyst" EXACT [] xref: MeSH:D003616 "Dandy-Walker Syndrome" xref: UMLS:C1856021 "Dandy-Walker anomaly" is_a: HP:0001320 ! Cerebellar vermis hypoplasia is_a: HP:0002198 ! Dilated fourth ventricle is_a: HP:0002350 ! Cerebellar cyst is_a: HP:0005445 ! Widened posterior fossa [Term] id: HP:0001308 name: Tongue fasciculations alt_id: HP:0003727 def: "Fasciculations or fibrillation affecting the tongue muscle." [HPO:probinson] synonym: "Tongue fasciculation" EXACT [] synonym: "Tongue fasciculations/fibrillations" EXACT [] xref: UMLS:C0239548 "Fasciculation, Tongue" is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0002380 ! Fasciculations is_a: HP:0010546 ! Muscle fibrillation [Term] id: HP:0001310 name: Dysmetria def: "A type of `ataxia` (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 "Dysmetria" is_a: HP:0001251 ! Ataxia [Term] id: HP:0001311 name: Neurophysiological abnormality alt_id: HP:0002531 alt_id: HP:0003129 synonym: "Neurophysiologic abnormalities" EXACT [] synonym: "Neurophysiologic abnormalities (EEG, VEP, SEP)" EXACT [] is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0001312 name: Giant somatosensory evoked potentials def: "An abnormal enlargement (i.e. increase in measured voltage) of somatosensory evoked potentials." [HPO:curators] synonym: "Giant somatosensory evoked potentials (SEPS)" EXACT [] is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0001315 name: Reduced tendon reflexes alt_id: HP:0001316 def: "Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease." [HPO:probinson, pmid:20941667] comment: The deep tendon reflex is a monosynaptic reflex arc with sensory and motor nerve components, but the arc is much more vulnerable to sensory nerve damage. Ankle plantar flexion is retained in all but the most severe peripheral neuropathies, and thus loss of the Achilles tendon reflex in an objective indication of a substantial sensory nerve defect. synonym: "Absent or decreased deep tendon reflexes" EXACT [] synonym: "Decreased to absent deep tendon reflexes" EXACT [] synonym: "Decreased/absent deep tendon reflexes" EXACT [] synonym: "Diminished or absent deep tendon reflexes" EXACT [] synonym: "Diminished or absent tendon reflexes" EXACT [] synonym: "Hypoactive to absent deep tendon reflexes" EXACT [] synonym: "Impaired tendon reflexes" EXACT [] synonym: "Reduced/absent deep tendon reflexes" EXACT [] synonym: "Weak or absent deep tendon reflexes" EXACT [] is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0001317 name: Abnormality of the cerebellum 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:C0007760 "Cerebellar abnormalities" is_a: HP:0011283 ! Abnormality of the metencephalon [Term] id: HP:0001319 name: Neonatal hypotonia alt_id: HP:0008976 def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] synonym: "Hypotonia, in neonatal onset" EXACT [] synonym: "Hypotonia, neonatal" EXACT [] xref: UMLS:C2267233 "Neonatal Hypotonia" is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0001320 name: Cerebellar vermis hypoplasia def: "Underdevelopment of the `vermis of cerebellum` (FMA:76928)." [HPO:probinson] synonym: "Cerebellar vermal hypoplasia" EXACT [] synonym: "Hypoplasia of the cerebellar vermis" EXACT [] synonym: "Hypoplastic cerebellar vermis " EXACT [] xref: UMLS:C1865061 "Cerebellar vermis hypoplasia" is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis [Term] id: HP:0001321 name: Cerebellar hypoplasia 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. In adults, cerebellar hypoplasia is typically diagnosed by computer tomography or magnetic resonance imaging. Cerebellar hypoplasia can be diagnosed if there is a small cerebellum with fissures of normal size compared with the folia (this is a distinguishing characteristic compared with cerebellar atrophy). synonym: "Congenital cerebellar hypoplasia" EXACT [] synonym: "Hypoplasia of cerebellum" EXACT [] synonym: "Hypoplastic cerebellum" EXACT [] xref: UMLS:C0266470 "Cerebellar hypoplasia" is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum [Term] id: HP:0001322 name: Brain very small is_a: HP:0006872 ! Cerebral hypoplasia [Term] id: HP:0001324 name: Muscle weakness alt_id: HP:0002309 alt_id: HP:0008979 alt_id: HP:0009012 alt_id: HP:0009061 def: "Reduced strength of muscles." [HPO:probinson, pmid:15832536] comment: It is important clinical to distinguish between muscle weakness, fatigue, and asthenia. Fatigue describes the inability to continue performing a task after multiple repetitions; in contrast, a patient with primary weakness is unable to perform the first repetition of the task. Asthenia is a sense of weariness or exhaustion in the absence of muscle weakness. Conditions that result in intrinsic muscle weakness can be divided into several main categories: infectious, neurologic, endocrine, inflammatory, rheumatologic, genetic, metabolic, electrolyte-induced, or drug-induced. synonym: "Muscular weakness" EXACT [] synonym: "Weakness" RELATED [] xref: MeSH:D018908 "Muscle weakness" xref: UMLS:C0151786 "Muscle Weakness" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0001325 name: Hypoglycemic coma synonym: "Coma, hypoglycemic" EXACT [] synonym: "Hypoglycaemic coma" EXACT [] synonym: "Loss of consciousness due to hypoglycemia" EXACT [] xref: UMLS:C0020617 "Hypoglycaemic coma" is_a: HP:0001259 ! Coma [Term] id: HP:0001326 name: EEG with irregular generalized spike and wave complexes def: "EEG shows spikes (<80 ms) and waves, which are recorded over the entire scalp and do not have a specific frequency." [HPO:jalbers] is_a: HP:0010850 ! EEG with spike-wave complexes [Term] id: HP:0001327 name: Photomyoclonic seizures xref: UMLS:C0036572 "Seizure" is_a: HP:0002123 ! Generalized myoclonic seizures [Term] id: HP:0001328 name: Specific learning disability alt_id: HP:0007234 def: "Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence." [HPO:probinson] comment: The term learning disability is used with different meanings in different contexts. Significant impairments of mental functioning with a reduction in IQ below 70 should be coded as mental retardation. xref: UMLS:C0751265 "Learning disability" is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0001331 name: Absent septum pellucidum alt_id: HP:0006969 def: "Absence of the `septum pellucidum` (FMA:61844)." [HPO:probinson] comment: TODO: Bundled term. Revise annotations and split this term. synonym: "Absence of septum pellucidum" EXACT [] synonym: "Absence of the septum pellucidum" EXACT [] synonym: "Agenesis of the septum pellucidum" EXACT [] xref: UMLS:C1848502 "Absent septum pellucidum" is_a: HP:0007375 ! Abnormality of the septum pellucidum [Term] id: HP:0001332 name: Dystonia alt_id: HP:0002328 def: "An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk." [HPO:probinson] synonym: "Dystonic disease" RELATED [] synonym: "Dystonic movements" EXACT [] xref: MeSH:D004421 "Dystonia" xref: UMLS:C0013421 "Dystonia" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001334 name: Communicating hydrocephalus def: "A form of `hydrocephalus` (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 "Communicating Hydrocephalus" is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0001335 name: Bimanual synkinesia def: "Mirror hand movements." [HPO:probinson] synonym: "Hand mirror movements" EXACT [] synonym: "Mirror hand movements" EXACT [] synonym: "Mirror movements" EXACT [] xref: UMLS:C0454455 "Mirror movements" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001336 name: Myoclonus alt_id: HP:0002535 def: "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] synonym: "Myoclonic jerks" EXACT [] xref: MeSH:D009207 "Myoclonus" xref: UMLS:C0027066 "Myoclonus" is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0001337 name: Tremor alt_id: HP:0001295 alt_id: HP:0001309 def: "An unintentional, oscillating to-and-fro muscle movement." [HPO:probinson] xref: MeSH:D014202 "Tremor" xref: UMLS:C1963252 "Tremor" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0001338 name: Partial agenesis of the corpus callosum alt_id: HP:0006982 alt_id: HP:0007090 alt_id: HP:0007128 def: "A partial failure of the development of the corpus callosum." [HPO:curators] synonym: "Corpus callosum agenesis, partial" EXACT [] synonym: "Partial agenesis of corpus callosum" EXACT [] synonym: "Partial corpus callosum agenesis" EXACT [] synonym: "Partial or complete agenesis of corpus callosum" EXACT [] synonym: "Partial to complete agenesis of corpus callosum" EXACT [] synonym: "Partial-total agenesis of corpus callosum" EXACT [] xref: UMLS:C0431368 "Corpus callosum agenesis, partial" is_a: HP:0001274 ! Agenesis of corpus callosum [Term] id: HP:0001339 name: Lissencephaly alt_id: HP:0002537 def: "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure." [HPO:curators] synonym: "Agyria" EXACT [] xref: MeSH:D054082 "Lissencephaly" xref: UMLS:C0266463 "Lissencephaly" is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0001340 name: Enhancement of the C-reflex def: "Increase in amplitude of a long-loop response upon somatosensory evoked potential testing, representing an electrically evoked myoclonic response." [HPO:probinson, pmid:4819909] is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0001341 name: Olfactory lobe agenesis synonym: "Olfactory lobe absence" EXACT [] xref: UMLS:C1855331 "Olfactory lobe absence" is_a: HP:0007319 ! Morphological abnormality of the central nervous system [Term] id: HP:0001342 name: Cerebral hemorrhage alt_id: HP:0002137 def: "`Hemorrhage` (MPATH:119) into the parenchyma of 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: MeSH:D002543 "Cerebral hemorrhage" xref: UMLS:C0007784 "CEREBRAL HAEMORRHAGE" is_a: HP:0002170 ! Intracranial hemorrhage [Term] id: HP:0001343 name: Kernicterus def: "Damage to cerebral nuclei caused in infants by highly increased levels of unconjugated bilirubin. The basal ganglia and brainstem nuclei could be shown to have a yellow staining historically in infants who died of kernicterus, that is, kernicterus is strictly speaking a pathological diagnosis. The presence of kernicterus may be inferred in infants with characteristic acute or chronic bilirubin-induced neurological dysfunction." [HPO:probinson] xref: MeSH:D007647 "Kernicterus" xref: UMLS:C0022610 "Kernicterus" is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001344 name: Absent speech alt_id: HP:0001617 alt_id: HP:0006798 def: "Complete lack of development of speech and language abilities." [HPO:probinson] comment: This term should not be used in very young children. synonym: "Absent speech development" EXACT [] synonym: "Lack of language development" EXACT [] synonym: "No speech development" EXACT [] synonym: "No speech or language development" EXACT [] xref: UMLS:C1856200 "Absent speech" is_a: HP:0000750 ! Delayed speech and language development is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0001345 name: Psychotic mentation is_a: HP:0000709 ! Psychosis [Term] id: HP:0001347 name: Hyperreflexia alt_id: HP:0001282 alt_id: HP:0006820 alt_id: HP:0007184 alt_id: HP:0007318 def: "The presence of overactive or overresponsive reflexes." [HPO:probinson] comment: Reflexes are graded according to the following scale: 0=absent; 1=present but diminished; 2=normoactive; 3=exaggerated; and 4=clonus. Clonus is always abnormal, and a grade 3 reflex may be abnormal if it is asymmetric or if it was previously grade 2 or less. synonym: "Increased deep tendon reflexes" EXACT [] synonym: "Increased reflexes" EXACT [] xref: UMLS:C0151889 "Hyperreflexia" is_a: HP:0007256 ! Abnormality of pyramidal motor function [Term] id: HP:0001348 name: Brisk reflexes is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0001349 name: Facial diplegia alt_id: HP:0005334 alt_id: HP:0007085 def: "Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy)." [HPO:probinson] synonym: "Bilateral facial weakness" EXACT [] synonym: "Facial paresis, bilateral" EXACT [] xref: UMLS:C1836003 "Facial diplegia" is_a: HP:0010628 ! Facial palsy [Term] id: HP:0001350 name: Slurred speech def: "Abnormal coordination of muscles involved in speech." [DDD:fmunitoni] xref: UMLS:C0234518 "Slurred speech" is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0001351 name: Jerk-locked premyoclonus spikes is_a: HP:0001311 ! Neurophysiological abnormality [Term] id: HP:0001355 name: Megalencephaly def: "The presence of an unusually large, and usually malfunctioning brain." [HPO:curators] synonym: "Macrencephaly" EXACT [] xref: UMLS:C0221355 "Macrocephaly" is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0001357 name: Plagiocephaly alt_id: HP:0001121 def: "Asymmetric head shape, which is usually a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape." [pmid:19125436] comment: Plagiocephaly may affect the posterior skull alone. With plagiocephaly, one can see a combination of unilateral occipital flattening with ipsilateral frontal prominence, leading to rhomboid cranial shape or asymmetry of the posterior skull alone. xref: MeSH:D059041 "Plagiocephaly" xref: UMLS:C0265529 "Plagiocephaly" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0001360 name: Holoprosencephaly alt_id: HP:0009807 def: "Holoprosencephaly is a structural anomaly of the brain in which the developing forebrain fails to divide into two separate hemispheres and ventricles." [HPO:probinson] comment: The presence of a single cerebral ventricle (instead of the usual four) may be seen as part of holoprosencephaly. synonym: "Single brain ventricle" EXACT [] xref: MeSH:D016142 "Holoprosencephaly" xref: UMLS:C0079541 "Holoprosencephaly" is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0007319 ! Morphological abnormality of the central nervous system [Term] id: HP:0001361 name: Nystagmus-induced head nodding def: "Head movements associated with nystagmus, that may represent an attempt to compensate for the involuntary eye movements and to improve vision." [HPO:probinson] is_a: HP:0000639 ! Nystagmus [Term] id: HP:0001362 name: Skull defect def: "A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year." [HPO:curators] is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0001363 name: Craniosynostosis alt_id: HP:0001365 alt_id: HP:0004494 alt_id: HP:0005448 alt_id: HP:0005457 alt_id: HP:0005467 alt_id: HP:0008492 def: "Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth." [HPO:probinson] comment: Skull deformity caused by the premature closure of the cranial sutures. Craniostenosis is a deformity of the skull caused by craniosynostosis, with consequent cessation of skull growth. synonym: "Craniostenosis" RELATED [] synonym: "Craniosyostosis" EXACT [] synonym: "Early fusion of cranial sutures" EXACT [] synonym: "Premature closure of cranial sutures" EXACT [] synonym: "Premature fontanel closure" EXACT [] xref: MeSH:D003398 "Craniosynostoses" xref: UMLS:C0010278 "Craniosynostosis" is_a: HP:0002648 ! Abnormality of calvarial morphology is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0001367 name: Abnormal joint morphology def: "An abnormal structure or form of the `joints` (FMA:73023), i.e., one or more of the articulations where two bones join." [HPO:probinson] synonym: "Abnormality of the joints" EXACT [] synonym: "Joint disease" RELATED [] is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0001369 name: Arthritis def: "Inflammation of a joint." [HPO:probinson] xref: MeSH:D001168 "Arthritis" xref: UMLS:C0003864 "Arthritis" is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001370 name: Rheumatoid arthritis def: "Inflammatory changes in the synovial membranes and articular structures with widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, as well as atrophy and rarefaction of bony structures." [HPO:probinson] xref: MeSH:D001172 "Arthritis, Rheumatoid" xref: UMLS:C0003873 "Rheumatoid Arthritis" is_a: HP:0001369 ! Arthritis [Term] id: HP:0001371 name: Flexion contracture alt_id: HP:0001372 alt_id: HP:0001381 alt_id: HP:0005053 alt_id: HP:0005189 alt_id: HP:0005660 def: "A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints." [HPO:probinson] synonym: "Contracture" EXACT [] synonym: "Flexion contractures" EXACT [] synonym: "Flexion contractures of joints" EXACT [] synonym: "Joint contracture" EXACT [] synonym: "Joint contractures" EXACT [] xref: MeSH:D003286 "Contracture" xref: UMLS:C0333068 "Flexion contracture" is_a: HP:0003549 ! Abnormality of connective tissue is_a: HP:0011729 ! Abnormality of joint mobility is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0001373 name: Joint dislocation alt_id: HP:0002772 def: "Displacement or malalignment of joints." [HPO:curators] synonym: "Dislocations" EXACT [] synonym: "Recurrent joint dislocations" EXACT [] is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001374 name: Congenital hip dislocation synonym: "Congenital dislocation of the hip" EXACT [] synonym: "Congenital dislocation of the hips" EXACT [] synonym: "Congenital hip anomaly" EXACT [] synonym: "Congenital hip dislocations" EXACT [] xref: MeSH:D006618 "Hip Dislocation, Congenital" is_a: HP:0002827 ! Hip dislocation [Term] id: HP:0001376 name: Limitation of joint mobility alt_id: HP:0003101 def: "A reduction in the freedom of movement of one or more joints." [HPO:probinson] synonym: "Decreased joint mobility" EXACT [] synonym: "Decreased mobility of joints" EXACT [] synonym: "Limited joint mobility" EXACT [] synonym: "Limited joint motion" EXACT [] xref: UMLS:C1856088 "Limited joint mobility" is_a: HP:0011729 ! Abnormality of joint mobility [Term] id: HP:0001377 name: Limited elbow extension alt_id: HP:0005073 synonym: "Decreased elbow extension" EXACT [] synonym: "Elbow limited extension" EXACT [] synonym: "Limitation of elbow extension" EXACT [] synonym: "Limited extension at elbows" EXACT [] synonym: "Limited forearm extension" EXACT [] synonym: "Restricted elbow extension" EXACT [] xref: UMLS:C1865003 "Limited elbow extension" is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0001379 name: Degenerative joint disease xref: UMLS:C0029408 "Osteoarthritis" is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001380 name: Ligamentous laxity synonym: "Joint ligamentous laxity" EXACT [] xref: UMLS:C1850677 "Ligamentous laxity" is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0001382 name: Joint hypermobility alt_id: HP:0001378 alt_id: HP:0005034 def: "The ability of a joint to move beyond its normal range of motion." [HPO:probinson] synonym: "Extensible joints" EXACT [] synonym: "Hyperextensible joints" EXACT [] synonym: "Increased mobility of joints" EXACT [] synonym: "Joint hyperextensibility" EXACT [] xref: MeSH:D007593 "Joint Instability" xref: UMLS:C1833778 "Mild joint hypermobility" is_a: HP:0011729 ! Abnormality of joint mobility [Term] id: HP:0001384 name: Abnormality of the hip joint def: "An abnormality of the `hip joint` (FMA:35178)." [HPO:probinson] synonym: "Abnormality of the hip joints" RELATED [] is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0001385 name: Hip dysplasia alt_id: HP:0008787 def: "The presence of `developmental dysplasia` (MPATH:64) of the `hip` (FMA:24964)." [HPO:probinson] synonym: "Congenital hip dysplasia" EXACT [] xref: UMLS:C1328407 "Hip dysplasia" is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0001386 name: Joint swelling xref: UMLS:C0152031 "Joint swelling" is_a: HP:0000969 ! Edema is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0001387 name: Joint stiffness alt_id: HP:0002775 alt_id: HP:0003033 def: "Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time." [HPO:probinson] comment: This term may be made obsolete in the future. The mild degree can be indicated in the annotation file. synonym: "Joint stiffness (hands, shoulder, elbows, knees, and ankles)" EXACT [] synonym: "Mild joint stiffness" EXACT [] synonym: "Stiff joint" EXACT [] synonym: "Stiff joints" EXACT [] xref: UMLS:C0162298 "Stiff joint" is_a: HP:0001376 ! Limitation of joint mobility [Term] id: HP:0001388 name: Joint laxity alt_id: HP:0001383 alt_id: HP:0002771 def: "Lack of stability of a joint." [HPO:probinson] comment: Joint laxity may be caused by a number of factors including intraarticular disease and injury or slacking of extraarticular structures such as joint capsules, ligaments, and muscles. synonym: "Lax joints" EXACT [] synonym: "Loose-jointedness" EXACT [] synonym: "Loosejointedness" EXACT [] xref: MeSH:D007593 "Joint Instability" xref: UMLS:C0086437 "Laxity, Joint" is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0001392 name: Abnormality of the liver def: "An abnormality of the `liver` (FMA:7197)." [HPO:probinson] synonym: "Liver abnormality" EXACT [] synonym: "Liver disease" RELATED [] is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001394 name: Cirrhosis 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: MeSH:D008103 "Liver Cirrhosis" xref: UMLS:C0023890 "Cirrhosis" is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001395 name: Hepatic fibrosis def: "The presence of `fibrosis` (MPATH:181) of the `liver` (FMA:7197) tissue." [HPO:probinson] xref: UMLS:C0239946 "Hepatic fibrosis" is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001396 name: Cholestasis xref: MeSH:D002779 "Cholestasis" xref: UMLS:C0008370 "Cholestasis" is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0001397 name: Hepatic steatosis alt_id: HP:0002252 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: MeSH:D005234 "Fatty Liver" xref: UMLS:C0015695 "Hepatic steatosis" is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001399 name: Hepatic failure synonym: "Liver failure" EXACT [] xref: MeSH:D017093 "Liver Failure" xref: UMLS:C0085605 "Liver Failure" is_a: HP:0001410 ! Decreased liver function [Term] id: HP:0001400 name: Hepatic abscesses due to immunodeficiency is_a: HP:0002721 ! Immunodeficiency is_a: HP:0100523 ! Liver abscess [Term] id: HP:0001401 name: Intrahepatic biliary dysgenesis xref: UMLS:C1859235 "Intrahepatic biliary dysgenesis" is_a: HP:0011040 ! Abnormality of the intrahepatic bile duct [Term] id: HP:0001402 name: Hepatocellular carcinoma alt_id: HP:0002899 alt_id: HP:0003007 alt_id: HP:0006750 def: "A kind of `neoplasm of the liver` (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: MeSH:D006528 "Carcinoma, Hepatocellular" xref: UMLS:C1512411 "Hepatocellular carcinoma" is_a: HP:0002896 ! Neoplasm of the liver [Term] id: HP:0001403 name: Macrovesicular hepatic steatosis 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 "Macrovesicular steatosis" is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0001404 name: Hepatocellular necrosis synonym: "Hepatocellular loss" EXACT [] xref: UMLS:C1855038 "Hepatocellular loss" is_a: HP:0002605 ! Hepatic necrosis [Term] id: HP:0001405 name: Periportal fibrosis def: "The presence of `fibrosis` (MPATH:181) affecting the `interlobular stroma of liver` (FMA: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 "Periportal fibrosis" is_a: HP:0001395 ! Hepatic fibrosis [Term] id: HP:0001406 name: Intrahepatic cholestasis xref: MeSH:D002780 "Cholestasis, Intrahepatic" xref: UMLS:C0008372 "Intrahepatic Cholestasis" is_a: HP:0001396 ! Cholestasis [Term] id: HP:0001407 name: Hepatic cysts xref: UMLS:C0267834 "Hepatic cysts" is_a: HP:0006706 ! Cystic liver disease [Term] id: HP:0001408 name: Bile duct proliferation def: "Proliferative changes of the `bile ducts` (FMA:9706)." [HPO:probinson] synonym: "Proliferation of bile canaliculi" EXACT [] xref: UMLS:C0267818 "Bile duct proliferation" is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0001409 name: Portal hypertension 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: MeSH:D006975 "Hypertension, Portal" xref: UMLS:C0020541 "Hypertension, Portal" is_a: HP:0000822 ! Hypertension is_a: HP:0006707 ! Abnormality of the hepatic vasculature [Term] id: HP:0001410 name: Decreased liver function alt_id: HP:0004393 alt_id: HP:0005228 alt_id: HP:0006570 def: "Reduced ability of the liver to perform its functions." [HPO:probinson] synonym: "Liver dysfunction" EXACT [] xref: UMLS:C0086565 "Liver Dysfunction" xref: UMLS:C0232744 "Decreased liver function" is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001412 name: Enteroviral hepatitis xref: UMLS:C1843995 "Enteroviral hepatitis" is_a: HP:0006562 ! Viral hepatitis [Term] id: HP:0001413 name: Micronodular cirrhosis def: "A type of `cirrhosis` (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. This finding can be demonstrated by liver biopsy. xref: UMLS:C0267812 "Micronodular cirrhosis" is_a: HP:0001394 ! Cirrhosis [Term] id: HP:0001414 name: Microvesicular hepatic steatosis def: "A form of `hepatic steatosis` (HP:0001397) characterized by the presence of small, lipid-laden vesicles in the affected hepatocytes." [HPO:probinson] comment: This finding can be demonstrated by liver biopsy. synonym: "Microvesicular steatosis" EXACT [] xref: UMLS:C1850415 "Microvesicular steatosis" is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0001417 name: X-linked inheritance alt_id: HP:0001418 def: "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] synonym: "X-linked" EXACT [] xref: UMLS:C0241764 is_a: HP:0010985 ! Gonosomal inheritance [Term] id: HP:0001419 name: X-linked recessive inheritance def: "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] synonym: "X-LINKED RECESSIVE" EXACT [HPO:skoehler] xref: UMLS:C0241764 is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001421 name: Abnormality of the musculature of the hand is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:59:00Z [Term] id: HP:0001423 name: X-linked dominant inheritance def: "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001425 name: Heterogeneous synonym: "Genetic heterogeneity" EXACT [] synonym: "Heterogeneity" EXACT [] synonym: "Heterogeneity." EXACT [] synonym: "Heterogeneous." EXACT [] is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001426 name: Multifactorial inheritance alt_id: HP:0001429 def: "A mode of inheritance that depends on a mixture of major and minor genetic determinants possibly together with environmental factors. Diseases inherited in this manner are termed complex diseases." [HPO:probinson] xref: MeSH:D020412 "Multifactorial Inheritance" is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001427 name: Mitochondrial inheritance alt_id: HP:0001431 alt_id: HP:0001458 alt_id: HP:0001506 def: "A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is essentially always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy)." [HPO:probinson] synonym: "Mitochondrial" EXACT [] is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001428 name: Somatic mutation xref: UMLS:C0544886 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001430 name: Abnormality of the calf musculature alt_id: HP:0004300 synonym: "Abnormality of calf musculature" EXACT [] is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs created_by: peter creation_date: 2008-04-07T10:18:00Z [Term] id: HP:0001433 name: Hepatosplenomegaly def: "Simultaneous `enlargement` (PATO:0000586) of the `liver` (FMA:7197) and `spleen` (FMA:7196)." [HPO:probinson] xref: UMLS:C0019214 "Hepatosplenomegaly" is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0001743 ! Abnormality of the spleen is_a: HP:0003271 ! Visceromegaly created_by: peter creation_date: 2008-02-20T10:51:00Z [Term] id: HP:0001435 name: Abnormality of the shoulder girdle musculature alt_id: HP:0004301 synonym: "Abnormality of shoulder musculature" EXACT [] is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:19:00Z [Term] id: HP:0001436 name: Abnormality of the foot musculature def: "An anomaly of the `musculature of foot` (FMA:50214)." [HPO:probinson] is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs created_by: peter creation_date: 2008-04-07T10:21:00Z [Term] id: HP:0001437 name: Abnormality of the musculature of the lower limbs is_a: HP:0009127 ! Abnormality of the musculature of the limbs created_by: peter creation_date: 2008-04-07T10:21:00Z [Term] id: HP:0001438 name: Abnormality of the abdomen def: "Abnormality of the `abdomen` (FMA:9577) ('belly'), that is, the part of the body between the pelvis and the thorax." [HPO:probinson] synonym: "Abdomen abnormality" RELATED [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001440 name: Synostosis involving metatarsal bones alt_id: HP:0004705 alt_id: HP:0008098 synonym: "Fusion of metatarsals" EXACT [] synonym: "Metatarsal synostosis" EXACT [] xref: UMLS:C1834165 "Metatarsal synostosis" is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0009140 ! Synostosis involving bones of the feet is_a: HP:0100265 ! Synostosis of metacarpals/metatarsals created_by: peter creation_date: 2008-04-17T02:36:00Z [Term] id: HP:0001441 name: Abnormality of the musculature of the thigh is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs created_by: peter creation_date: 2008-04-07T10:27:00Z [Term] id: HP:0001442 name: Somatic mosaicism def: "The presence of genetically distinct populations of somatic cells in a given organism caused by DNA mutations, epigenetic alterations of DNA, chromosomal abnormalities or the spontaneous reversion of inherited mutations." [HPO:probinson, pmid:12360233] xref: UMLS:C1866227 is_a: HP:0001428 ! Somatic mutation [Term] id: HP:0001443 name: Abnormality of the gluteal musculature is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter creation_date: 2008-04-07T10:31:00Z [Term] id: HP:0001444 name: Autosomal dominant somatic cell mutation is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001445 name: Abnormality of the hip-girdle musculature is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter creation_date: 2008-04-07T10:31:00Z [Term] id: HP:0001446 name: Abnormality of the musculature of the upper limbs is_a: HP:0009127 ! Abnormality of the musculature of the limbs created_by: peter creation_date: 2008-04-07T10:40:00Z [Term] id: HP:0001449 name: Duplication of metatarsal bones is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0009136 ! Duplication involving bones of the feet created_by: peter creation_date: 2008-04-17T02:37:00Z [Term] id: HP:0001450 name: Y-linked inheritance def: "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome." [HPO:curators] xref: UMLS:C0814045 is_a: HP:0010985 ! Gonosomal inheritance [Term] id: HP:0001452 name: Autosomal dominant contiguous gene syndrome is_a: HP:0000006 ! Autosomal dominant inheritance is_a: HP:0001466 ! Contiguous gene syndrome [Term] id: HP:0001454 name: Abnormality of the upper arm is_a: HP:0002817 ! Abnormality of the upper limb created_by: peter creation_date: 2008-04-07T10:41:00Z [Term] id: HP:0001457 name: Abnormality of the musculature of the upper arm is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0001454 ! Abnormality of the upper arm created_by: peter creation_date: 2008-04-07T10:42:00Z [Term] id: HP:0001459 name: 1-3 toe syndactyly def: "`Syndactyly` (HP:0001159) with fusion of toes one to three." [HPO:sdoelken] xref: UMLS:C0265660 "Toe syndactyly" is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0001460 name: Aplasia/Hypoplasia involving the musculature def: "Absence or underdevelopment of the musculature." [HPO:curators] is_a: HP:0011805 ! Abnormality of muscle morphology created_by: peter creation_date: 2008-04-07T10:46:00Z [Term] id: HP:0001464 name: Aplasia/Hypoplasia involving the shoulder musculature def: "Absence or underdevelopment of the muscles of the shoulder." [HPO:curators] is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:49:00Z [Term] id: HP:0001465 name: Amyotrophy involving the shoulder musculature is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature created_by: peter creation_date: 2008-04-07T10:50:00Z [Term] id: HP:0001466 name: Contiguous gene syndrome xref: UMLS:C1855496 is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001467 name: Aplasia/Hypoplasia involving the musculature of the upper limbs def: "Absence or underdevelopment of the musculature of the upper limbs." [HPO:curators] is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP: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 def: "Absence or underdevelopment of the muscles of the upper arm." [HPO:curators] is_a: HP:0001457 ! Abnormality of the musculature of the upper arm is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:52:00Z [Term] id: HP:0001469 name: Abnormality of the musculature of the pelvis is_a: HP:0003011 ! Abnormality of the musculature created_by: peter creation_date: 2008-04-07T10:55:00Z [Term] id: HP:0001470 name: Sex-limited autosomal dominant is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001471 name: Aplasia/Hypoplasia of the musculature of the pelvis is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter creation_date: 2008-04-07T10:56:00Z [Term] id: HP:0001472 name: Familial predisposition is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0001473 name: Metatarsal osteolysis alt_id: HP:0001866 def: "Osteolysis involving metatarsal bones." [HPO:probinson] synonym: "Osteolysis involving metatarsal bones" EXACT [] xref: UMLS:C1854614 "Metatarsal osteolysis" is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0009134 ! Osteolysis involving bones of the feet created_by: peter creation_date: 2008-04-17T02:38:00Z [Term] id: HP:0001474 name: Sclerotic scapulae def: "Increased density of the bony tissue of the scapula." [HPO:probinson] xref: UMLS:C1849263 "Sclerotic scapulae" is_a: HP:0000782 ! Abnormality of the scapula [Term] id: HP:0001475 name: Male-limited autosomal dominant is_a: HP:0001470 ! Sex-limited autosomal dominant [Term] id: HP:0001476 name: Delayed closure of the anterior fontanelle def: "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:probinson] synonym: "Delayed anterior fontanelle closure" EXACT [] synonym: "Delayed closure anterior fontanel" EXACT [] synonym: "Delayed closure anterior fontanelle" EXACT [] synonym: "Delayed closure of anterior fontanel" EXACT [] synonym: "Delayed closure of anterior fontanelle" EXACT [] synonym: "Late closure of large anterior fontanel" EXACT [] synonym: "Persistent anterior fontanelle" EXACT [] xref: UMLS:C1855653 "Delayed closure anterior fontanel" is_a: HP:0000236 ! Abnormality of the anterior fontanelle is_a: HP:0000270 ! Delayed cranial suture closure [Term] id: HP:0001477 name: Compensatory chin elevation def: "A tendency to hold the child elevated by about 20 to 30 degrees to compensate for a limitation of eye movement." [HPO:probinson] synonym: "Compensatory head tilt/chin elevation" EXACT [] xref: UMLS:C1846911 "Compensatory chin elevation" is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0001480 name: Freckling xref: UMLS:C0016689 "Freckles" is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001482 name: Subcutaneous nodules alt_id: HP:0005903 def: "Slightly elevated lesions on or in the skin with a diameter of over 5 mm." [HPO:probinson] comment: Subcutaneous nodules may move freely within the dermis or may be fixed to skin above or subcutaneous tissue below. synonym: "Multiple, subcutaneous nodules" RELATED [] xref: UMLS:C0151811 "subcutaneous nodules" is_a: HP:0200036 ! Skin nodule [Term] id: HP:0001483 name: Eye poking def: "Repetitive pressing, poking, and/or rubbing in the eyes." [HPO:probinson, pmid:8881355] comment: Eye poking is usually observed in children with an intellectual and visual handicap. xref: UMLS:C0233593 "Eye poking" is_a: HP:0000733 ! Stereotypic behavior [Term] id: HP:0001487 name: Hypopigmented fundi synonym: "Hypopigmented ocular fundus" EXACT [] xref: UMLS:C1856885 "Hypopigmented fundi" is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0001488 name: Bilateral ptosis xref: UMLS:C1865916 "Bilateral ptosis" is_a: HP:0000508 ! Ptosis [Term] id: HP:0001489 name: Vitreous detachment xref: MeSH:D020255 "Vitreous Detachment" xref: UMLS:C0042907 "Vitreous Detachment" is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0001491 name: Congenital fibrosis of extraocular muscles synonym: "Congenital fibrosis of extraocular muscles (CFEOM)" EXACT [] synonym: "Congenital fibrosis of the extraocular muscles" EXACT [] is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0001492 name: Axenfeld anomaly def: "Axenfeld's anomaly is a bilateral disorder characterized by a prominent, anteriorly displaced Schwalbe's line (posterior embryotoxon) and peripheral iris strands which span the anterior chamber angle to attach to Schwalbe's line." [HPO:probinson] xref: UMLS:C0266548 "Axenfeld anomaly" is_a: HP:0007700 ! Anterior segment dysgenesis [Term] id: HP:0001493 name: Falciform retinal fold alt_id: HP:0008013 def: "An area of the retina that is buckled so that a sector-shaped sheet of retina lies in front of the normal retina. This feature is of congenital onset." [HPO:probinson] synonym: "Congenital retinal fold" EXACT [] xref: UMLS:C0344550 "Congenital retinal fold" xref: UMLS:C1866177 "Falciform retinal folds" is_a: HP:0008052 ! Abnormal retinal folds [Term] id: HP:0001495 name: Carpal osteolysis def: "Osteolysis affecting carpal bones." [HPO:curators] synonym: "Carpal bone osteolysis" EXACT [] xref: UMLS:C1854608 "Carpal osteolysis" is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0002797 ! Osteolysis [Term] id: HP:0001498 name: Carpal bone hypoplasia alt_id: HP:0001209 alt_id: HP:0006029 alt_id: HP:0006072 alt_id: HP:0006117 alt_id: HP:0006130 alt_id: HP:0006227 def: "Underdevelopment of one or more `carpal bones` (FMA:23889)." [HPO:probinson] synonym: "Hypoplasia of carpal bones" EXACT [] synonym: "Hypoplastic carpal bones" EXACT [] synonym: "Small carpal bones" EXACT [] synonym: "Small carpals" EXACT [] xref: UMLS:C1873508 "Carpal bone hypoplasia" is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones [Term] id: HP:0001500 name: Broad finger alt_id: HP:0001497 def: "Increased width of a non-thumb digit of the hand." [pmid:19125433] comment: Note that the girth may be increased in a broad finger, but this must be distinguished from Macrodactyly, because there the length is also increased. This distinction can be subtle. This term should not be used when the increased width is limited to the distal phalanges, instead use Broad fingertips. The affected digit should be specified by the numbering scheme in the introduction. This term is not used for the first digit, see Broad thumbs. When a thumb and one or more fingers are affected, it may be more economical to specify "Broad fingers, F1-5" instead of separately specifying "Broad thumb" and "Broad fingers F2-5". synonym: "Broad fingers" EXACT [] synonym: "Wide fingers" EXACT [] xref: UMLS:C1844906 "Broad fingers" is_a: HP:0001167 ! Abnormality of finger [Term] id: HP:0001501 name: 6 metacarpals xref: UMLS:C0025526 "Metacarpals" is_a: HP:0005917 ! Supernumerary metacarpal bones [Term] id: HP:0001504 name: Metacarpal osteolysis synonym: "Metacarpals osteolysis" EXACT [] xref: UMLS:C1854610 "Metacarpal osteolysis" is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0002797 ! Osteolysis [Term] id: HP:0001507 name: Growth abnormality alt_id: HP:0008904 synonym: "Increased upper to lower segment ratio" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001508 name: Failure to thrive alt_id: HP:0001535 alt_id: HP:0008853 alt_id: HP:0008878 alt_id: HP:0008916 def: "Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm." [HPO:probinson] comment: Although there is no clear consensus on the exact definition of FTT, it is usually diagnoses in a child growing below the 3rd percentile or in a child whose decreased growth has cross two major growth percentiles (for example, from above the 75th percentile to below the 25th percentile). synonym: "Poor weight gain" RELATED [] synonym: "Postnatal failure to thrive" EXACT [] xref: MeSH:D005183 "Failure to thrive" xref: UMLS:C0015544 "Failure to Thrive" xref: UMLS:C0231246 "Poor weight gain" xref: UMLS:C1838628 "Postnatal failure to thrive" xref: UMLS:C1854925 "Progressive failure to thrive" is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001510 name: Growth delay alt_id: HP:0001434 alt_id: HP:0001512 alt_id: HP:0001514 alt_id: HP:0001517 alt_id: HP:0001532 alt_id: HP:0008847 alt_id: HP:0008870 alt_id: HP:0008886 alt_id: HP:0008893 alt_id: HP:0008926 def: "A deficiency or slowing down of growth pre- and postnatally." [HPO:probinson] comment: Poor or abnormally slow gains in weight or height in a child. synonym: "Delayed growth" EXACT [] synonym: "Growth deficiency" EXACT [] synonym: "Growth failure" EXACT [] synonym: "Growth retardation" EXACT [] synonym: "Poor growth" EXACT [] synonym: "Retarded growth" EXACT [] xref: UMLS:C0476243 "Physical retardation" xref: UMLS:C0878787 "Growth failure" is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0001511 name: Intrauterine growth retardation alt_id: HP:0001515 alt_id: HP:0008862 alt_id: HP:0008892 alt_id: HP:0008931 def: "An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age." [HPO:probinson] comment: Intrauterine growth restriction is a newer term that is preferred over Intrauterine growth retardation. The causes of IUGR include maternal abnormalities (chronic hypertension, cyanotic heart disease, smoking, drug abuse), placental or umbilical cord abnormalities (including placenta previa and cord anomalies), maternal medicationas, and genetic disorders of the fetus. synonym: "In utero growth retardation" EXACT [] synonym: "Intrauterine growth failure" EXACT [] synonym: "Intrauterine growth restriction" EXACT [] synonym: "Intrauterine growth retardation (IUGR)" EXACT [] synonym: "Intrauterine growth retardation, IUGR" EXACT [] synonym: "Intrauterine retardation" EXACT [] synonym: "Prenatal growth deficiency" EXACT [] synonym: "Prenatal growth failure" EXACT [] synonym: "Prenatal growth retardation" EXACT [] synonym: "Prenatal onset growth retardation" EXACT [] synonym: "Prenatal-onset growth retardation" EXACT [] synonym: "Small for gestational age infant" EXACT [] xref: UMLS:C1844889 "Prenatal growth deficiency" xref: UMLS:C1855336 "Variable prenatal growth deficiency" xref: UMLS:C1855652 "Intrauterine growth failure" is_a: HP:0001510 ! Growth delay [Term] id: HP:0001513 name: Obesity def: "Body weight that is grossly above the acceptable or desirable weight, usually due to accumulation of excess fats in the body. The standards may vary with age, sex, genetic or cultural background. In the body mass index (BMI), a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese." [HPO:probinson, MeSH:D009765] xref: MeSH:D009765 "Obesity" xref: UMLS:C1963185 "Obesity" is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001518 name: Small for gestational age alt_id: HP:0001422 alt_id: HP:0008849 alt_id: HP:0008919 alt_id: HP:0008927 def: "Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age." [DDD:hfirth] synonym: "Birth weight less than 10th percentile" EXACT [] synonym: "Low birth weight" EXACT [] is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001519 name: Disproportionate tall stature alt_id: HP:0003511 alt_id: HP:0008864 def: "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [DDD:hfirth, HPO:probinson] synonym: "Dolichostenomelia" EXACT [] synonym: "Marfanoid body habitus" EXACT [] synonym: "Marfanoid habitus" EXACT [] synonym: "Reduced upper-lower segment ratio" EXACT [] xref: UMLS:C0003706 "Dolichostenomelia" xref: UMLS:C1836997 "Reduced upper-lower segment ratio" is_a: HP:0000098 ! Tall stature [Term] id: HP:0001520 name: Large for gestational age alt_id: HP:0001825 def: "The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age." [eMedicine:262679, HPO:probinson] comment: Fetal macrosomia has been defined in several different ways, including birth weight of 4000-4500 g (8 lb 13 oz to 9 lb 15 oz) or greater than 90% for gestational age after correcting for neonatal sex and ethnicity. Based on these definitions, macrosomia affects 1-10% of all pregnancies. A diagnosis of fetal macrosomia can be made only by measuring birth weight after delivery; therefore, the condition is confirmed only retrospectively, ie, after delivery of the neonate. synonym: "Birth weight > 90th percentile" EXACT [] synonym: "Birthweight > 90th percentile" EXACT [] synonym: "Fetal macrosomia" EXACT [] synonym: "Macrosomia" EXACT [] synonym: "Macrosomia, neonatal" EXACT [HPO:skoehler] xref: MeSH:D005320 "Fetal Macrosomia" is_a: HP:0001548 ! Overgrowth is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001522 name: Death in infancy alt_id: HP:0003816 alt_id: HP:0003817 alt_id: HP:0003818 alt_id: HP:0003823 alt_id: HP:0003827 def: "Death within the first 24 months of life." [HPO:probinson] synonym: "Death in early childhood" RELATED [] synonym: "Infantile death" EXACT [] synonym: "Lethal in infancy" EXACT [] is_a: HP:0011420 ! Death [Term] id: HP:0001525 name: Severe failure to thrive alt_id: HP:0008876 synonym: "Marked failure to thrive" EXACT [] synonym: "Severe postnatal failure to thrive" EXACT [] xref: UMLS:C1855514 "Severe failure to thrive" xref: UMLS:C1857668 "Severe postnatal failure to thrive" is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001528 name: Hemihypertrophy alt_id: HP:0006416 def: "Overgrowth of only one side of the body." [HPO:probinson] synonym: "Asymmetric limb hypertrophy" EXACT [] xref: UMLS:C0332890 "Hemihypertrophy" is_a: HP:0002813 ! Abnormality of limb bone morphology is_a: HP:0100555 ! Asymmetric growth [Term] id: HP:0001530 name: Mild postnatal growth retardation alt_id: HP:0008860 alt_id: HP:0008917 def: "A mild degree of slow or limited growth after birth, being between two and three standard deviations below age- and sex-related norms." [DDD:hfirth] synonym: "Mild growth deficiency" RELATED [] synonym: "Postnatal onset of mild growth retardation" EXACT [] xref: UMLS:C1860835 "Mild growth deficiency" is_a: HP:0008897 ! Postnatal growth retardation [Term] id: HP:0001531 name: Failure to thrive in infancy alt_id: HP:0008863 alt_id: HP:0008925 synonym: "Failure to thrive in first year of life" EXACT [] is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001533 name: Slender build alt_id: HP:0001529 def: "Asthenic habitus refers to a slender build with long limbs, an angular profile, and prominent muscles or bones." [HPO:curators] comment: Slender, long-limbed habitus. synonym: "Asthenic habitus" EXACT [] xref: UMLS:C1861200 "Asthenic habitus" is_a: HP:0000098 ! Tall stature is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001534 name: Genitourinary atresia 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:0001537 name: Umbilical hernia def: "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] synonym: "Umbilical hernias" EXACT [] xref: MeSH:D006554 "Hernia, Umbilical" xref: UMLS:C0019322 "Umbilical Hernias" is_a: HP:0001551 ! Abnormality of the umbilicus is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0001538 name: Protuberant abdomen def: "A thrusting or bulging out of the abdomen." [HPO:probinson] synonym: "Abdominal protuberance" EXACT [] xref: UMLS:C1849208 "Protuberant abdomen" is_a: HP:0003270 ! Abdominal distention [Term] id: HP:0001539 name: Omphalocele def: "A midline anterior `incomplete closure` (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 "Omphalocele" is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0001540 name: Diastasis recti def: "A separation of the rectus abdominis muscle into right and left halves (which are normally joined at the midline at the linea alba)." [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 "Diastasis recti" is_a: HP:0010991 ! Abnormality of the abdominal musculature [Term] id: HP:0001541 name: Ascites def: "Accumulation of fluid in the peritoneal cavity." [HPO:probinson] comment: Ascites is commonly associated with liver disease that has resulted in portal hypertension and low serum albumin levels. xref: MeSH:D001201 "Ascites" xref: UMLS:C0003962 "Ascites" is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001543 name: Gastroschisis def: "A type of congenital ventral `incomplete closure` (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: MeSH:D020139 "Gastroschisis" xref: UMLS:C0265706 "Gastroschisis" is_a: HP:0010866 ! Abdominal wall defect [Term] id: HP:0001544 name: Prominent umbilicus def: "Abnormally prominent umbilicus (belly button)." [HPO:curators] xref: UMLS:C1837795 "Prominent umbilicus" is_a: HP:0001551 ! Abnormality of the umbilicus [Term] id: HP:0001545 name: Anteriorly placed anus def: "Anterior malposition of the anus." [HPO:curators] synonym: "Anteriorly displaced anus" EXACT [] is_a: HP:0004397 ! Ectopic anus [Term] id: HP:0001547 name: Abnormality of the morphology of the rib cage is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0001548 name: Overgrowth def: "Excessive postnatal growth which may comprise increased weight, increased length, and/or increased head circumference." [HPO:probinson] xref: UMLS:C1849265 "Overgrowth" is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0001549 name: Abnormality of the ileum is_a: HP:0002244 ! Abnormality of the small intestine created_by: peter creation_date: 2008-02-20T11:05:00Z [Term] id: HP:0001551 name: Abnormality of the umbilicus def: "Abnormality of the `umbilicus` (FMA:61584)." [HPO:probinson] comment: The umbilicus is also known as the belly button or the navel. synonym: "Abnormal umbilicus" EXACT [] xref: UMLS:C1849338 "Abnormal umbilicus" is_a: HP:0004298 ! Abnormality of the abdominal wall [Term] id: HP:0001552 name: Barrel-shaped chest alt_id: HP:0000781 alt_id: HP:0001553 synonym: "Barrel chest" EXACT [] synonym: "Broad chest" EXACT [] xref: UMLS:C1839322 "Barrel-shaped chest" is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0001555 name: Asymmetry of the thorax def: "Lack of symmetry of the thorax." [HPO:curators] synonym: "Asymmetric chest" EXACT [] xref: UMLS:C1858033 "Asymmetric chest" is_a: HP:0001547 ! Abnormality of the morphology of the rib cage [Term] id: HP:0001557 name: Prenatal movement abnormality alt_id: HP:0007629 def: "An abnormality of fetal movement." [HPO:probinson] comment: Fetal movements generally become apparent during the second trimester of pregnancy around the 20th week but occasionally up to the 25th week. The initiation of perceptible fetal movements is referred to as 'quickening'. synonym: "Abnormal intrauterine movements" EXACT [] xref: UMLS:C1849510 "Abnormal intrauterine movements" is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001558 name: Decreased fetal movement alt_id: HP:0001559 alt_id: HP:0006840 alt_id: HP:0007630 alt_id: HP:0007631 def: "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] synonym: "Decreased fetal activity" EXACT [] synonym: "Decreased fetal movements" EXACT [] synonym: "Decreased movement in utero" EXACT [] synonym: "Reduced fetal movement" EXACT [] synonym: "Reduced fetal movements" EXACT [] xref: UMLS:C0235659 "Decreased fetal movements" is_a: HP:0001557 ! Prenatal movement abnormality [Term] id: HP:0001560 name: Abnormality of the amniotic fluid def: "Abnormality of the amniotic fluid, which is the fluid contained in the amniotic sac surrounding the developing fetus." [HPO:curators] is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001561 name: Polyhydramnios alt_id: HP:0005098 def: "The presence of excess amniotic fluid in the uterus during pregnancy." [HPO:probinson] comment: Polyhydramnios is diagnosed if the deepest vertical pool of amniotic fluid is more than 8 cm or amniotic fluid index is more than 95th percentile for the corresponding gestational age. synonym: "Hydramnios" EXACT [] xref: MeSH:D006831 "Polyhydramnios" xref: UMLS:C0020224 "Hydramnios" is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001562 name: Oligohydramnios alt_id: HP:0004638 def: "Diminished amniotic fluid volume in pregnancy." [HPO:probinson] comment: Oligohydramnios is the opposite of polyhydramnios. In normal pregnancy the amniotic fluid volume increases by about 10 ml/day until the 34th, after which it slowly diminishes. A normal amniotic fluid volume at term is about 500-2,000 ml. Oligohydramnios is defined as an AFI (amniotic fluid index) less than 5 cm or smallest vertical pocket of fluid less than 2 cm. synonym: "Maternal oligohydramnios" EXACT [] xref: MeSH:D016104 "Oligohydramnios" xref: UMLS:C0079924 "Oligohydramnios" is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001563 name: Fetal polyuria def: "Abnormally increased production of urine by the fetus resulting in `polyhydramnios` (HP:0001561)." [HPO:probinson, pmid:21460147] comment: The fetal urine production rate can be measured by ultrasonography. xref: UMLS:C1865279 "Fetal polyuria" is_a: HP:0001560 ! Abnormality of the amniotic fluid [Term] id: HP:0001566 name: Widely-spaced maxillary central incisors alt_id: HP:0000669 alt_id: HP:0001570 alt_id: HP:0006300 alt_id: HP:0006324 def: "Increased distance between the `maxillary central permanent incisor tooth` (FMA:55722)." [HPO:ibailleulforestier] synonym: "Central incisor gap" EXACT [] synonym: "Diastasis of the central incisors" EXACT [] synonym: "Separated superior central incisors" EXACT [] synonym: "Wide gap between upper central incisors" EXACT [] synonym: "Wide upper central incisors" EXACT [] synonym: "Widely spaced upper incisors" EXACT [] xref: UMLS:C1835762 "Wide upper central incisors" is_a: HP:0000699 ! Diastema is_a: HP:0006304 ! Widely-spaced incisors [Term] id: HP:0001571 name: Multiple impacted teeth def: "The presence of `multiple` (PATO:0002118) `impacted teeth` (HP:0011079)." [HPO:ibailleulforestier] synonym: "Impacted teeth" EXACT [] is_a: HP:0011079 ! Impacted tooth [Term] id: HP:0001572 name: Macrodontia def: "`Increased size` (PATO:0000586) of the `teeth` (FMA:12516), which can be defined as a mesiodistal tooth diameter (width) more than 2 SD above mean for age. Alternatively, an apparently increased maximum width of the tooth." [HPO:ibailleulforestier, pmid:19125428] comment: The standard reference has means and standard deviations by gender [Moyers et al, 1976]. Although it is easy to measure the width of teeth, and the definition is made with reference to the width of teeth, macrodontia actually means that the overall size of the tooth is increased. synonym: "Large teeth" EXACT [] xref: UMLS:C0266036 "Macrodontia" is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0001574 name: Abnormality of the integument 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. is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001575 name: Mood changes xref: UMLS:C0085633 "Mood change" is_a: HP:0100852 ! Abnormal fear/anxiety-related behavior [Term] id: HP:0001578 name: Hypercortisolism alt_id: HP:0000850 alt_id: HP:0004316 def: "Overproduction of the hormone of `cortisol` (CHEBI:17650) by the adrenal cortex, resulting in a characteristic combination of clinical symptoms termed Cushing syndrome, with truncal obesity, a round, full face, striae atrophicae and acne, muscle weakness, and other features." [DDD:spark, HPO:probinson] synonym: "Cushing syndrome" EXACT [] synonym: "Increased cortisol production" EXACT [] xref: UMLS:C0010481 "Hypercortisolism" is_a: HP:0002717 ! Adrenal overactivity [Term] id: HP:0001579 name: Primary hypercorticolism def: "Hypercortisolemia associated with a primary defect of the adrenal gland leading to overproduction of cortisol." [HPO:probinson] synonym: "ACTH-independent hypercortisolemia" RELATED [] xref: UMLS:C1968852 "ACTH-independent hypercortisolemia" is_a: HP:0001578 ! Hypercortisolism [Term] id: HP:0001580 name: Pigmented micronodular adrenocortical disease xref: UMLS:C1968851 "Pigmented micronodular adrenocortical disease" is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0001581 name: Recurrent skin infections alt_id: HP:0007563 def: "Infections of the skin that happen multiple times." [HPO:curators] synonym: "Cutaneous infections" EXACT [] synonym: "Skin infections" EXACT [] synonym: "Skin infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C1853193 "Recurrent skin infections" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0001582 name: Redundant skin alt_id: HP:0007391 def: "Loose and sagging skin often associated with loss of skin elasticity." [HPO:probinson] synonym: "Loose redundant skin" EXACT [] synonym: "Redundant skin folds" EXACT [] synonym: "Sagging, redundant skin" EXACT [] xref: UMLS:C1855241 "Redundant skin folds" is_a: HP:0000973 ! Cutis laxa [Term] id: HP:0001583 name: Rotary nystagmus def: "A form of nystagmus in which the eyeball makes rotary motions around the axis." [HPO:probinson] xref: UMLS:C0240595 "Rotary Nystagmus" is_a: HP:0000639 ! Nystagmus [Term] id: HP:0001586 name: Vesicovaginal fistula def: "The presence of a `fistula` (MPATH:70) connecting the `urinary bladder` (FMA:15900) to the `vagina` (FMA:19949)." [HPO:probinson] xref: MeSH:D014719 "Vesicovaginal Fistula" xref: UMLS:C0042582 "Vesico-vaginal fistula" is_a: HP:0004320 ! Vaginal fistula is_a: HP:0004321 ! Bladder fistula [Term] id: HP:0001587 name: Primary ovarian failure def: "Malfunctioning of the ovaries such that a girl never begins menstruation." [HPO:probinson] synonym: "Primary ovarian insufficiency" EXACT [] xref: MeSH:D016649 "Primary Ovarian Insufficiency" xref: UMLS:C0271606 "Primary ovarian failure" is_a: HP:0000137 ! Abnormality of the ovary [Term] id: HP:0001591 name: Bell-shaped chest synonym: "Bell-shaped thorax" EXACT [] xref: UMLS:C1865186 "Bell-shaped chest" is_a: HP:0100625 ! Enlarged thorax [Term] id: HP:0001592 name: Selective tooth agenesis 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 "Selective tooth agenesis" is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0001593 name: Maxillary lateral incisor microdontia def: "`Decreased size` (PATO:0000587) of the `maxillary permanent incisor` (FMA:55713)." [HPO:ibailleulforestier] is_a: HP:0000691 ! Microdontia is_a: HP:0011063 ! Abnormality of incisor morphology [Term] id: HP:0001595 name: Abnormality of the hair def: "An abnormality of the `hair` (FMA:53667)." [HPO:probinson] synonym: "Hair abnormality" EXACT [] xref: UMLS:C0157733 "Hair abnormality" is_a: HP:0011138 ! Abnormality of skin adnexa [Term] id: HP:0001596 name: Alopecia alt_id: HP:0002238 alt_id: HP:0008068 def: "Loss of hair from the head or body." [HPO:probinson] synonym: "Hair loss" EXACT [] xref: MeSH:D000505 "Alopecia" xref: UMLS:C0002170 "Alopecia" is_a: HP:0002115 ! Sparse or absent hair [Term] id: HP:0001597 name: Abnormality of the nail def: "Abnormality of the `nail` (FMA:54326)." [HPO:probinson] comment: Abnormality of the fingernails and/or toenails. synonym: "Nail disease" RELATED [] is_a: HP:0011138 ! Abnormality of skin adnexa [Term] id: HP:0001598 name: Concave nail alt_id: HP:0001815 def: "The natural longitudinal (posterodistal) convex arch is not present or is inverted." [pmid:19125433] comment: Koilonychia literally means spoon nails. This often results in a saucer- or spoon-shaped nail and the free edge of the nail is typically everted. The affected digits should be specified. Note that the bundled term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. synonym: "Koilonychia" EXACT [] synonym: "Spoon-shaped nails" EXACT [] xref: UMLS:C0221261 "Koilonychia" is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001600 name: Abnormality of the larynx def: "An abnormality of the `larynx` (FMA:55097)." [HPO:probinson] synonym: "Laryngeal abnormalities" EXACT [] synonym: "Laryngeal anomalies" EXACT [] is_a: HP:0002087 ! Abnormality of the upper respiratory tract [Term] id: HP:0001601 name: Laryngomalacia def: "Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration." [HPO:probinson] comment: Laryngomalacia may affect the epiglottis, the arytenoid cartilages, or both. It is the most common cause of congenital stridor. xref: MeSH:D055092 "Laryngomalacia" xref: UMLS:C0264303 "Laryngomalacia" is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001602 name: Laryngeal stenosis def: "Stricture or narrowing of the larynx that may be associated with symptoms of respiratory difficulty depending on the degree of laryngeal narrowing." [HPO:probinson] xref: MeSH:D007829 "Laryngostenosis" xref: UMLS:C0023075 "Laryngeal Stenosis" is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001604 name: Vocal cord paresis alt_id: HP:0001603 alt_id: HP:0001616 alt_id: HP:0008745 def: "`Decreased strength` (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 [] synonym: "Weakness of the vocal cords" EXACT [] xref: UMLS:C0751576 "Vocal Cord Paresis" is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0001609 ! Hoarse voice is_a: HP:0008777 ! Abnormality of the vocal cords [Term] id: HP:0001605 name: Vocal cord paralysis alt_id: HP:0006847 def: "A loss of the ability to move the `vocal folds` (FMA:55457)." [HPO:probinson] comment: Vocal cord paralysis may lead to signs and symptoms such as hoarseness, inability to speak loudly, choking or coughing while eating with the risk of aspiration pneumonia. Affected patients may also experience breathing difficulties. xref: MeSH:D014826 "Vocal Cord Paralysis" xref: UMLS:C0042928 "Vocal Cord Paralysis" is_a: HP:0001604 ! Vocal cord paresis [Term] id: HP:0001606 name: Vocal cord paralysis (caused by tumor impingement) is_a: HP:0001604 ! Vocal cord paresis [Term] id: HP:0001607 name: Subglottic stenosis xref: UMLS:C0238441 "Subglottic stenosis" is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001608 name: Abnormality of the voice def: "Any abnormality of the voice." [HPO:probinson, MeSH:D014831] comment: This term describes any abnormality of the voice, i.e., of the sounds produced by humans by the passage of air through the larynx and over the vocal cords, and then modified by the resonance organs, the nasopharynx, and the mouth. synonym: "Voice abnormality" EXACT [] is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001609 name: Hoarse voice alt_id: HP:0001619 def: "Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky." [HPO:probinson] synonym: "Hoarseness" EXACT [] synonym: "Husky voice" EXACT [] xref: MeSH:D006685 "Hoarseness" xref: UMLS:C0019825 "Hoarse voice" is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001611 name: Nasal speech alt_id: HP:0001614 def: "A type of speech characterized by the presence of an abnormally increased nasal airflow during speech, associated with incomplete or weak closure of the velum." [HPO:sdoelken] comment: Examination is by nasal endoscopy. synonym: "Hypernasal speech" EXACT [] synonym: "Hypernasal voice" EXACT [] synonym: "Nasal voice" EXACT [] xref: UMLS:C1839742 "Nasal speech" xref: UMLS:C1861154 "Hypernasal speech" is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001612 name: Weak cry xref: UMLS:C0234860 "Weak cry" is_a: HP:0001608 ! Abnormality of the voice is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0001613 name: Hoarse voice (caused by tumor impingement) is_a: HP:0001609 ! Hoarse voice [Term] id: HP:0001615 name: Hoarse cry xref: UMLS:C0019825 "Hoarse voice" is_a: HP:0001609 ! Hoarse voice [Term] id: HP:0001618 name: Dysphonia def: "An impairment in the ability to produce voice sounds." [HPO:probinson] xref: MeSH:D055154 "Dysphonia" xref: UMLS:C1527344 "Dysphonia" is_a: HP:0001608 ! Abnormality of the voice is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0001620 name: High pitched voice alt_id: HP:0001610 alt_id: HP:0008374 alt_id: HP:0008377 alt_id: HP:0008378 alt_id: HP:0008379 alt_id: HP:0009146 def: "An abnormal increase in the pitch (frequency) of the voice." [HPO:probinson] synonym: "High-pitched voice" EXACT [] xref: UMLS:C0241703 "High pitched voice" is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001621 name: Weak voice def: "Reduced intensity (volume) of speech." [HPO:probinson] synonym: "Soft voice" EXACT [] is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001622 name: Premature birth def: "The birth of a baby of less than 37 weeks of gestational age." [HPO:probinson] synonym: "Premature delivery" EXACT [] synonym: "Premature delivery of affected infants" EXACT [] synonym: "Preterm delivery" EXACT [] xref: MeSH:D047928 "Premature Birth" xref: UMLS:C2028283 "premature birth" is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001623 name: Breech presentation def: "A position of the fetus at delivery in which the fetus enters the birth canal with the buttocks or feet first." [HPO:probinson] synonym: "Breech presentation at birth" EXACT [] xref: MeSH:D001946 "Breech Presentation" xref: UMLS:C2053609 "breech presentation" is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001626 name: Abnormality of the cardiovascular system def: "Any abnormality of the `cardiovascular system` (FMA:7161)." [HPO:probinson] comment: The cardiovascular system consists of the heart, vasculature, and the lymphatic system. synonym: "Cardiovascular abnormality" EXACT [] synonym: "Cardiovascular disease" RELATED [] xref: MeSH:D018376 "Cardiovascular Abnormalities" xref: UMLS:C0243050 "CARDIOVASCULAR ABNORMALITY" is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001627 name: Abnormality of the heart def: "An abnormality of the `heart` (FMA:7088)." [HPO:probinson] synonym: "Cardiac abnormality" EXACT [] synonym: "Cardiac anomalies" EXACT [] xref: UMLS:C0018798 "Congenital Heart Defects" is_a: HP:0001626 ! Abnormality of the cardiovascular system [Term] id: HP:0001629 name: Ventricular septal defect alt_id: HP:0001652 def: "A hole between the two bottom chambers (ventricles) of the heart. The defect is centered around the most superior aspect of the ventricular septum." [HPO:curators] synonym: "Ventricular septal defects" EXACT [] synonym: "Ventriculoseptal defect" EXACT [] xref: UMLS:C1859213 "Ventriculoseptal defect" is_a: HP:0010438 ! Abnormality of the ventricular septum [Term] id: HP:0001631 name: Defect in the atrial septum alt_id: HP:0001630 def: "Atrial septal defect (ASD) is a congenital abnormality of the `interatrial septum` (FMA:7108) that enables blood flow between the left and right atria via the interatrial septum." [DDD:dbrown, HPO:probinson] synonym: "Atria septal defect" EXACT [] synonym: "Atrial septal defect" EXACT [] xref: ICD-10:Q21.1 xref: UMLS:C0018817 "Atrial septal defect" is_a: HP:0005120 ! Abnormality of cardiac atrium is_a: HP:0011994 ! Abnormality of the atrial septum [Term] id: HP:0001633 name: Abnormality of the mitral valve def: "An abnormality of the `mitral valve` (FMA:7235)." [HPO:probinson] is_a: HP:0006705 ! Abnormality of the atrioventricular valves [Term] id: HP:0001634 name: Mitral valve prolapse def: "One or both of the leaflets (cusps) of the mitral valve bulges back into the left atrium upon contraction of the left ventricle." [HPO:probinson] comment: Mitral valve prolapse can be associated with mitral regurgitation. xref: MeSH:D008945 "Mitral Valve Prolapse" is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0001635 name: Congestive heart failure alt_id: HP:0006686 def: "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:probinson] synonym: "Cardiac failure" EXACT [] synonym: "Cardiac insufficiency" EXACT [] synonym: "Heart failure" EXACT [] xref: MeSH:D006333 "Heart Failure" xref: UMLS:C0018802 "Congestive heart failure" is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0001636 name: Tetralogy of Fallot def: "A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present." [HPO:probinson] synonym: "Tetrology of fallot" EXACT [] xref: ICD-10:Q21.3 xref: MeSH:D013771 "Tetralogy of Fallot" xref: UMLS:C0039685 "Tetralogy of Fallot" is_a: HP:0001710 ! Conotruncal defect [Term] id: HP:0001637 name: Abnormality of the myocardium is_a: HP:0002564 ! Malformation of the heart and great vessels [Term] id: HP:0001638 name: Cardiomyopathy def: "A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality." [HPO:probinson, pmid:17916581] xref: MeSH:D009202 "Cardiomyopathy" xref: UMLS:C0878544 "Cardiomyopathy" is_a: HP:0001637 ! Abnormality of the myocardium [Term] id: HP:0001639 name: Hypertrophic cardiomyopathy def: "Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality." [pmid:17916581] synonym: "Cardiomyopathy, hypertrophic" EXACT [] xref: MeSH:D002312 "Cardiomyopathy, Hypertrophic" xref: UMLS:C0340425 "Hypertrophic Cardiomyopathy" is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001640 name: Cardiomegaly def: "`Increased size` (PATO:0000586) of the `heart` (FMA:7088)." [HPO:probinson] xref: MeSH:D006332 "Cardiomegaly" xref: UMLS:C0018800 "Cardiomegaly" is_a: HP:0001627 ! Abnormality of the heart [Term] id: HP:0001641 name: Abnormality of the pulmonary valve def: "An abnormality of the `pulmonary valve` (FMA:7246)." [HPO:probinson] is_a: HP:0001654 ! Abnormality of the heart valves [Term] id: HP:0001642 name: Pulmonic stenosis def: "A narrowing of the right ventricular outflow tract that can occur at the pulmonary valve (valvular stenosis) or just below the pulmonary valve (infundibular stenosis)." [HPO:probinson] comment: Infundibular pulmonic stenosis is mostly caused by overgrowth of the heart muscle wall (hypertrophy of the septoparietal trabeculae). Pulmonic stenosis is often seen as a part of Fallot' s tetralogy, in which case the events leading to the formation of the overriding aorta are also believed to be a cause of the pulmonic stenosis. The pulmonic stenosis is the major cause of the malformations seen in patients with Fallot tetralogy, with the other associated malformations acting as compensatory mechanisms to the pulmonic stenosis. The degree of stenosis varies between individuals with TOF, and is the primary determinant of symptoms and severity. This malformation is infrequently described as sub-pulmonary stenosis or subpulmonary obstruction. synonym: "Pulmonary stenosis" EXACT [] synonym: "Pulmonary valve stenosis" EXACT [] synonym: "Pulmonic valve stenosis" EXACT [] xref: UMLS:C1956257 "Pulmonic stenosis" is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0001643 name: Patent ductus arteriosus def: "In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences." [HPO:probinson, pmid:20421261] synonym: "Ductus arteriosus" EXACT [] synonym: "Persistent arterial duct" EXACT [] synonym: "Persistent ductus arteriosus" EXACT [] xref: MeSH:D004374 "Ductus Arteriosus, Patent" xref: UMLS:C0013274 "Patent ductus arteriosus" is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001644 name: Dilated cardiomyopathy alt_id: HP:0001725 alt_id: HP:0005159 def: "Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis." [pmid:17916581] synonym: "Cardiomyopathy, dilated" EXACT [] xref: MeSH:D002311 "Cardiomyopathy, Dilated" xref: UMLS:C0007193 "Cardiomyopathy, Dilated" is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001645 name: Sudden cardiac death alt_id: HP:0005161 def: "The heart suddenly and unexpectedly stops beating resulting in death within a short time period (generally within 1 h of symptom onset)." [HPO:probinson] synonym: "Premature sudden cardiac death" EXACT [] xref: MeSH:D016757 "Sudden Cardiac Death" xref: UMLS:C0085298 "Sudden Cardiac Death" xref: UMLS:C1968862 "Premature sudden cardiac death" is_a: HP:0001695 ! Cardiac arrest [Term] id: HP:0001646 name: Abnormality of the aortic valve def: "Any abnormality of the `aortic valve` (FMA:7236)." [HPO:curators] is_a: HP:0001654 ! Abnormality of the heart valves [Term] id: HP:0001647 name: Bicuspid aortic valve 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 "Bicuspid aortic valve" is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0001648 name: Cor pulmonale def: "Right-sided heart failure resulting from chronic hypertension in the pulmonary arteries and right ventricle." [HPO:probinson] comment: Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy. xref: UMLS:C0238074 "Cor Pulmonale" is_a: HP:0001707 ! Abnormality of the right ventricle [Term] id: HP:0001649 name: Tachycardia alt_id: HP:0001720 def: "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:probinson] synonym: "Rapid heart beat" EXACT [] xref: MeSH:D013610 "Tachycardia" xref: UMLS:C0039231 "Tachycardia" is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001650 name: Aortic valve stenosis alt_id: HP:0005140 def: "The presence of a stenosis (narrowing) of the aortic valve." [HPO:probinson] comment: Aortic stenosis can lead to a pressure gradient between the left ventricle and the aorta and may result in left ventricular hypertrophy and decreased left ventricular compliance. synonym: "Aortic stenosis" EXACT [] synonym: "Valvular aortic stenosis" EXACT [] xref: MeSH:D001024 "Aortic Valve Stenosis" xref: UMLS:C0003507 "Aortic Stenosis" is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0001651 name: Dextrocardia def: "The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or \"mirror reflection\") of the anatomical location of the heart in which the heart is locate on the right side instead of the left." [DDD:dbrown, HPO:sdoelken] synonym: "Thoracic situs inversus" EXACT [] xref: EPCC:02.01.02 xref: ICD-10:Q24.0 xref: MeSH:D003914 "Dextrocardia" xref: UMLS:C0011813 "Dextrocardia" is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001653 name: Mitral regurgitation def: "An `abnormality of the mitral valve` (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: MeSH:D008944 "Mitral Valve Insufficiency" xref: UMLS:C0026266 "Mitral Incompetence" is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0001654 name: Abnormality of the heart valves 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: MeSH:D006349 "Heart Valve Diseases" xref: UMLS:C1963123 "Valvular heart disease" is_a: HP:0002564 ! Malformation of the heart and great vessels [Term] id: HP:0001655 name: Patent foramen ovale def: "Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria." [DDD:dbrown, HPO:probinson] comment: The foramen ovale is located in the atrial septum and is essential for proper fetal circulation. With separation from the placenta and with the first few breaths, the left atrium fills with blood returning from the lungs and closes the foramen ovale. Subsequently, during the first years of life, the foramen ovale seals shut. xref: ICD-10:Q21.1 is_a: HP:0001631 ! Defect in the atrial septum [Term] id: HP:0001657 name: Prolonged QT interval def: "Increased time between the start of the Q wave and the end of the T wave as measured by the electrocardiogram (EKG)." [HPO:probinson] comment: The QT interval represents electrical depolarization and repolarization of the left and right ventricles. synonym: "Long Q-T syndrome" RELATED [] synonym: "Long QT syndrome" EXACT [] synonym: "Prolong qt interval on ekg" EXACT [] xref: MeSH:D008133 "Long QT Syndrome" xref: UMLS:C0023976 "Long Q-T syndrome" is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0001658 name: Myocardial infarction def: "Necrosis of the myocardium caused by an obstruction of the blood supply to the heart and often associated with chest pain, shortness of breath, palpitations, and anxiety as well as characteristic EKG findings and elevation of serum markers including creatine kinase-MB fraction and troponin." [HPO:probinson] xref: Mesh:D009203 "Myocardial Infarction" xref: UMLS:C0027051 "Myocardial Infarction" is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0001659 name: Aortic regurgitation def: "An insufficiency of the aortic valve, leading to regurgitation (backward flow) of blood from the aorta into the left ventricle." [HPO:probinson] synonym: "Aortic insufficiency" EXACT [] synonym: "Aortic valve regurgitation" EXACT [] xref: MeSH:D001022 "Aortic Valve Insufficiency" xref: UMLS:C0003504 "Regurgitation, Aortic Valve" is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0001660 name: Truncus arteriosus def: "A single arterial trunk arises from the cardiac mass. The pulmonary arteries, aorta and coronary arteries arise from this single trunk with no evidence of another outflow tract." [DDD:dbrown, HPO:probinson] synonym: "Common arterial trunk" EXACT [] synonym: "Persistant truncus arteriosus" RELATED [] xref: ICD-10:Q20.0 xref: MeSH:D014338 "Truncus Arteriosus" xref: UMLS:C0041206 "Truncus Arteriosus" is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001662 name: Bradycardia def: "A slower than normal heart rate (in adults, slower than 60 beats per minute)." [HPO:probinson] xref: MeSH:D001919 "Bradycardia" xref: UMLS:C0428977 "Bradycardia" is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001663 name: Ventricular fibrillation alt_id: HP:0005166 def: "Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations." [HPO:probinson] xref: MeSH:D014693 "Ventricular Fibrillation" xref: UMLS:C1962976 "Ventricular fibrillation" is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0001664 name: Torsade de pointes def: "A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG." [HPO:probinson] synonym: "Torsades de pointes" EXACT [] xref: MeSH:D016171 "Torsade de pointes" xref: UMLS:C1963250 "Torsade de pointes" is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0001667 name: Right ventricular hypertrophy def: "In this case the right ventricle is more muscular than normal, causing a characteristic boot-shaped (coeur-en-sabot) appearance as seen on anterior- posterior chest x-rays. Right ventricular hypertrophy is commonly associated with any form of right ventricular outflow obstruction or pulmonary hypertension, which may in turn owe its origin to left-sided disease. The echocardiographic signs are thickening of the anterior right ventricular wall and the septum. Cavity size is usually normal, or slightly enlarged. In many cases there is associated volume overload present due to tricuspid regurgitation, in the absence of this, septal motion is normal." [HPO:probinson] xref: UMLS:C0232305 "right ventricular hypertrophy" is_a: HP:0001707 ! Abnormality of the right ventricle is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001669 name: Transposition of the great arteries def: "A complex congenital heart defect in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle." [eMedicine:900574, HPO:probinson, pmid:10798431] synonym: "Transposition of great vessels" EXACT [] xref: MeSH:D014188 "Transposition of Great Vessels" xref: UMLS:C0040761 "Transposition of Great Vessels" is_a: HP:0011563 ! Abnormal ventriculo-arterial connection is_a: HP:0011603 ! Congenital malformation of the great arteries [Term] id: HP:0001670 name: Asymmetric septal hypertrophy def: "Hypertrophic cardiomyopathy with an asymmetrical pattern of hypertrophy, with a predilection for the interventricular septum and myocyte disarray." [HPO:probinson, pmid:17916581] xref: UMLS:C0205700 "Asymmetric Septal Hypertrophy" is_a: HP:0001639 ! Hypertrophic cardiomyopathy [Term] id: HP:0001671 name: Abnormality of the cardiac septa alt_id: HP:0001690 synonym: "Septal defects" EXACT [] is_a: HP:0002564 ! Malformation of the heart and great vessels [Term] id: HP:0001673 name: Tachycardia (with pheochromocytoma) is_a: HP:0001675 ! Rhythm disturbances associated with pheochromocytoma [Term] id: HP:0001674 name: Complete atrioventricular canal defect alt_id: HP:0001689 alt_id: HP:0006697 def: "A congenital heart defect characteizred by a specific combination of heart defects with a common atrioventricular valve, primum atrial septal defect and inlet ventricular septal defect." [DDD:dbrown, HPO:probinson, pmid:16722604] comment: The complete form of AVC shows an ostium primum atrial septal defect, a common atrioventricular valve and a variable deficiency of the interventricular septum inlet. CAVC can be classified into types A, B or C according to the morphology of the common atrioventricular valve. synonym: "Atrioventricular canal" EXACT [] synonym: "Common atrioventricular canal" EXACT [] synonym: "Complete atrioventricular septal defect" EXACT [] synonym: "Complete common AV canal" EXACT [] xref: UMLS:C0231081 "Atrioventricular canal" is_a: HP:0006695 ! Atrioventricular canal defect [Term] id: HP:0001675 name: Rhythm disturbances associated with pheochromocytoma is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001676 name: Palpitations (with pheochromocytoma) is_a: HP:0001675 ! Rhythm disturbances associated with pheochromocytoma [Term] id: HP:0001677 name: Coronary artery disease alt_id: HP:0005138 def: "Reduction of the diamter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia." [HPO:probinson] synonym: "Coronary disease" EXACT [] xref: MeSH:D003324 "Coronary Artery Disease" xref: UMLS:C0010068 "Coronary Artery Disease" is_a: HP:0002621 ! Atherosclerosis is_a: HP:0006704 ! Abnormality of the coronary arteries is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0001678 name: Atrioventricular block alt_id: HP:0001668 alt_id: HP:0005142 alt_id: HP:0006672 def: "Delayed or lack of conduction of atrial depolarizations through the atrioventricular node to the ventricles." [HPO:probinson] synonym: "Atrioventricular nodal disease" RELATED [] synonym: "Congenital heart block" EXACT [] synonym: "Heart block" EXACT [] xref: MeSH:D054537 "Atrioventricular Block" xref: UMLS:C0004245 "Atrioventricular Block" xref: UMLS:C0018794 "Heart Block" xref: UMLS:C1841659 "Atrioventricular nodal disease" is_a: HP:0005150 ! Abnormal atrioventricular conduction [Term] id: HP:0001679 name: Abnormality of the aorta def: "An abnormality of the `aorta` (FMA:3734)." [HPO:probinson] is_a: HP:0011004 ! Abnormality of the systemic arterial tree [Term] id: HP:0001680 name: Coarctation of aorta def: "Coarctation of the aorta is a narrowing or constriction of a segment of the aorta." [HPO:probinson] synonym: "Aortic coarctation" EXACT [] synonym: "Coaractation of the aorta" EXACT [] synonym: "Coarctation of the aorta" EXACT [] xref: MeSH:D001017 "Aortic Coarctation" is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0001681 name: Angina pectoris def: "Paroxysmal chest pain that occurs with exertion or stress and is related to myocardial ischemia." [HPO:probinson] xref: MeSH:D000787 "Angina Pectoris" xref: UMLS:C0002962 "Angina Pectoris" is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0001682 name: Subvalvular aortic stenosis def: "A fixed form of obstruction to blood flow across the `left-ventricular outflow tract` (FMA:9473) related to stenosis (narrowing) below the level of the aortic valve." [HPO:probinson] comment: Narrowing of the left ventricle of the heart just below the aortic valve through which blood must pass on its way up into the aorta. synonym: "Subaortic stenosis" EXACT [] xref: MeSH:D001020 xref: UMLS:C0340375 "Subaortic stenosis" is_a: HP:0011103 ! Abnormality of the left ventricular outflow tract [Term] id: HP:0001683 name: Ectopia cordis def: "Congenital malformation of the ventral wall with partial or total evisceration of the heart outside the thoracic cavity and through the defect in the ventral wall." [DDD:dbrown] comment: See Moss and Adams 'Heart Disease in Infants, Children and Adolescents' p1168. Ectopia cordis has a very poor prognosis. Ectopia cordis is generally divided into five types: cervical, cervicothoracic, thoracic, abdominal, and thoracicoabdominal. Ectopia cordis is rare (5-8 per million live births), but the two most common forms are thoracic (59%) and thoracicoabdominal (38%). xref: MeSH:D054083 "Ectopia Cordis" xref: UMLS:C0013580 "Ectopia Cordis" is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001684 name: Secundum atrial septal defect 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." [DDD:dbrown, HPO:probinson] xref: ICD-10:Q21.1 xref: UMLS:C0016522 "Secundum atrial septal defect" is_a: HP:0001631 ! Defect in the atrial septum [Term] id: HP:0001685 name: Myocardial fibrosis xref: UMLS:C0151654 "Myocardial fibrosis" is_a: HP:0001637 ! Abnormality of the myocardium [Term] id: HP:0001686 name: Loss of voice is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001688 name: Sinus bradycardia alt_id: HP:0005137 def: "Bradycardia related to a mean resting sinus rate of less than 50 beats per minute." [HPO:probinson] xref: UMLS:C2108107 "sinus bradycardia" is_a: HP:0001662 ! Bradycardia is_a: HP:0011702 ! Abnormal electrophysiology of sinoatrial node origin [Term] id: HP:0001691 name: Muscular subvalvular aortic stenosis def: "A type of subvalvular aortic stenosis resulting from thickening of the musculature of the interventricular septum, which results in obstruction to blood flow though the left-ventricular outflow tract." [HPO:probinson] synonym: "Muscular subaortic stenosis" EXACT [] xref: UMLS:C0700053 "MUSCULAR SUBAORTIC STENOSIS" is_a: HP:0001682 ! Subvalvular aortic stenosis [Term] id: HP:0001692 name: Primary atrial arrhythmia def: "A type of supraventricular tachycardia in which the atria are the principal site of electrophysiologic disturbance." [DDD:dbrown] synonym: "Atrial arrhythmia" RELATED [] xref: UMLS:C0085611 "Atrial arrhythmias" is_a: HP:0004755 ! Supraventricular tachycardia [Term] id: HP:0001693 name: Cardiac shunt def: "Pattern of blood flow in the heart that deviates from the normal circuit of the circulatory system." [HPO:probinson] xref: UMLS:C0542331 "Shunts" is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0001694 name: Right-to-left shunt is_a: HP:0001693 ! Cardiac shunt [Term] id: HP:0001695 name: Cardiac arrest xref: MeSH:D006323 "Heart Arrest" xref: UMLS:C0018790 "Cardiac Arrest" is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001696 name: Situs inversus totalis def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the major thoracic and abdominal organs." [DDD:dbrown, HPO:probinson] synonym: "Situs inversus" RELATED [] synonym: "situs oppositus" EXACT [] synonym: "situs transversus" EXACT [] xref: UMLS:C0037221 "Situs inversus viscerum" is_a: HP:0001651 ! Dextrocardia is_a: HP:0003363 ! Abdominal situs inversus is_a: HP:0011534 ! Abnormal spatial orientation of the cardiac segments [Term] id: HP:0001697 name: Abnormality of the pericardium def: "An abnormality of the `pericardium` (FMA:9869), i.e., of the fluid filled sac that surrounds the heart and the proximal ends of the aorta, vena cava, and the pulmonary artery." [HPO:probinson] is_a: HP:0002564 ! Malformation of the heart and great vessels [Term] id: HP:0001698 name: Pericardial effusion def: "Accumulation of fluid within the pericardium." [HPO:probinson] synonym: "Pericardial effusions" EXACT [] xref: MeSH:D010490 "Pericardial effusion" xref: UMLS:C0031039 "Pericardial effusion" is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0001699 name: Sudden death def: "Rapid and unexpected death." [HPO:probinson] xref: MeSH:D003645 "Death, Sudden" is_a: HP:0011420 ! Death [Term] id: HP:0001700 name: Myocardial necrosis xref: UMLS:C1442837 "Myocardial necrosis" is_a: HP:0001637 ! Abnormality of the myocardium [Term] id: HP:0001701 name: Pericarditis xref: MeSH:D010493 "Pericarditis" xref: UMLS:C0031046 "Pericarditis" is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0001702 name: Abnormality of the tricuspid valve def: "An abnormality of the `tricuspid valve` (FMA:7234)." [HPO:probinson] xref: EPCC:06.01.00 is_a: HP:0006705 ! Abnormality of the atrioventricular valves [Term] id: HP:0001704 name: Tricuspid valve prolapse def: "One or more of the leaflets (cusps) of the tricuspid valve bulges back into the right atrium upon contraction of the right ventricle." [HPO:probinson] xref: MeSH:D014263 "Tricuspid Valve Prolapse" xref: UMLS:C0040962 "Tricuspid Valve Prolapse" is_a: HP:0001702 ! Abnormality of the tricuspid valve [Term] id: HP:0001705 name: Right ventricular outlet obstruction xref: UMLS:C1849344 "Right ventricular outlet obstruction" is_a: HP:0001707 ! Abnormality of the right ventricle [Term] id: HP:0001706 name: Endocardial fibroelastosis xref: MeSH:D004695 "Endocardial Fibroelastosis" xref: UMLS:C0014117 "Endocardial Fibroelastosis" is_a: HP:0004306 ! Abnormality of the endocardium [Term] id: HP:0001707 name: Abnormality of the right ventricle def: "An abnormality of the `right ventricle` (FMA:7098) of the heart." [HPO:probinson] comment: The function of the right ventricle is to receive blood from the right atrium and to eject blood into the pulmonary artery. synonym: "Right ventricular abnormality" EXACT [] xref: UMLS:C0344887 "Right ventricular abnormality" is_a: HP:0001713 ! Abnormality of cardiac ventricle [Term] id: HP:0001708 name: Right ventricular failure def: "Reduced ability of the right ventricle to perform its function (to receive blood from the right atrium and to eject blood into the pulmonary artery), often leading top pitting peripheral edema, ascites, and hepatomegaly." [HPO:probinson] xref: UMLS:C0235527 "Right ventricular failure" is_a: HP:0001707 ! Abnormality of the right ventricle [Term] id: HP:0001709 name: Third degree atrioventricular block def: "A form of atrioventricular block in which atrial impulse propagates to the ventricles." [HPO:probinson] synonym: "Complete heart block" EXACT [] synonym: "Third-degree heart block" RELATED [] xref: UMLS:C0151517 "Complete heart block" is_a: HP:0001678 ! Atrioventricular block [Term] id: HP:0001710 name: Conotruncal defect def: "A congenital malformation of the outflow tract of the heart. Conotruncal defects are thought to result from a disturbance of the outflow tract of the embryonic heart, and comprise truncus arteriosus, tetralogy of Fallot, interrupted aortic arch, transposition of the great arteries, and double outlet right ventricle." [HPO:probinson] synonym: "Conotruncal heart defects" EXACT [] xref: UMLS:C1853238 "Conotruncal heart defects" is_a: HP:0002564 ! Malformation of the heart and great vessels [Term] id: HP:0001711 name: Abnormality of the left ventricle def: "An abnormality of the `left ventricle` (FMA:7101) of the heart." [HPO:probinson] synonym: "Left ventricular abnormality" EXACT [] xref: UMLS:C0344905 "Left ventricular abnormality" is_a: HP:0001713 ! Abnormality of cardiac ventricle [Term] id: HP:0001712 name: Left ventricular hypertrophy alt_id: HP:0005171 synonym: "Left ventricular wall hypertrophy" EXACT [] xref: UMLS:C0149721 "Left Ventricular Hypertrophy" xref: UMLS:C1845018 "Left ventricular wall hypertrophy" is_a: HP:0001711 ! Abnormality of the left ventricle is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001713 name: Abnormality of cardiac ventricle def: "An abnormality of a `cardiac ventricle` (FMA:7100)." [HPO:probinson] comment: This terms groups abnormalities affecting either the `right ventricle` (FMA:7098) and/or the `left ventricle` (FMA:7101). is_a: HP:0002564 ! Malformation of the heart and great vessels [Term] id: HP:0001714 name: Ventricular hypertrophy alt_id: HP:0005167 def: "Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy." [HPO:probinson] xref: UMLS:C0340279 "Ventricular hypertrophy" is_a: HP:0001713 ! Abnormality of cardiac ventricle [Term] id: HP:0001716 name: Wolff-Parkinson-White syndrome def: "A disorder of the cardiac conduction system of the heart characterized by ventricular preexcitation due to the presence of an abnormal accessory atrioventricular electrical conduction pathway." [HPO:probinson] xref: MeSH:D014927 "Wolff-Parkinson-White Syndrome" xref: UMLS:C0043202 "Wolf-Parkinson-White Syndrome" is_a: HP:0004309 ! Ventricular preexcitation [Term] id: HP:0001717 name: Coronary artery calcification def: "`Calcification` (PATO:0001447) affecting the `coronary arteries` (FMA:3800)." [HPO:probinson] xref: UMLS:C1611184 "Coronary artery calcification" is_a: HP:0003207 ! Arterial calcification is_a: HP:0006704 ! Abnormality of the coronary arteries [Term] id: HP:0001718 name: Mitral stenosis alt_id: HP:0005163 def: "Ab abnormal narrowing of the orifice of the mitral valve." [DDD:dbrown] synonym: "Mitral valve stenosis" EXACT [] xref: EPCC:06.02.92 xref: ICD-10:Q23.2 xref: MeSH:D008946 "Mitral Valve Stenosis" xref: UMLS:C0026269 "Mitral Stenosis" is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0001719 name: Double outlet right ventricle def: "Double outlet right ventricle (DORV) is a type of ventriculoarterial connection in which both great vessels arise entirely or predominantly from the right ventricle." [HPO:probinson, pmid:10798433] comment: During the development of the heart, the outflow tract initially connects exclusively with the primitive right ventricle and must undergo extensive remodelling to divide into a separate pulmonary artery and aorta; subsequently, there is continued remodelling to establish direct continuity from the left ventricle to the aorta. DORV encompasses a wide spectrum of anatomic arrangements and pathophysiologic disturbances. At one end of the spectrum, it mimics tetralogy of Fallot in the presence of pulmonary stenosis, or a large ventricular septal defect (VSD) in the absence of such stenosis. At the other end of the spectrum, it behaves like transposition of the great arteries with a VSD. synonym: "Double-outlet right ventricle" EXACT [] xref: MeSH:D004310 "Double Outlet Right Ventricle" xref: UMLS:C0013069 "Double Outlet Right Ventricle" is_a: HP:0001710 ! Conotruncal defect is_a: HP:0011723 ! Congenital malformation of the right heart [Term] id: HP:0001722 name: High-output congestive heart failure def: "A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others." [HPO:curators] is_a: HP:0001635 ! Congestive heart failure [Term] id: HP:0001723 name: Restrictive cardiomyopathy def: "Restrictive left ventricular physiology is characterized by a pattern of ventricular filling in which increased stiffness of the myocardium causes ventricular pressure to rise precipitously with only small increases in volume, defined as restrictive ventricular physiology in the presence of normal or reduced diastolic volumes (of one or both ventricles), normal or reduced systolic volumes, and normal ventricular wall thickness." [HPO:probinson, pmid:17916581] comment: Historically, systolic function was said to be preserved in RCM, but is rare for contractility to be truly normal. Restrictive physiology can occur in patients with end-stage hypertrophic and DCM. xref: MeSH:D002313 "Cardiomyopathy, Restrictive" xref: UMLS:C1963079 "Restrictive cardiomyopathy" is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001724 name: Aortic dilatation xref: UMLS:C0265004 "AORTA DILATION" is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0001726 name: Increased prevalence of valvular disease is_a: HP:0001654 ! Abnormality of the heart valves [Term] id: HP:0001727 name: Thromboembolic stroke def: "A cerebrovascular accident (stroke) that occurs because of thromboembolism." [HPO:probinson] is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0001730 name: Progressive hearing impairment alt_id: HP:0008590 def: "A `progressive` (PATO:0001818) form of `hearing impairment` (HP:0000365)." [HPO:probinson] synonym: "Progressive hearing loss" EXACT [] xref: UMLS:C1842138 "Progressive hearing loss" is_a: HP:0000365 ! Hearing impairment [Term] id: HP:0001732 name: Abnormality of the pancreas def: "An abnormality of the `pancreas` (FMA:7198)." [HPO:probinson] synonym: "Pancreatic disease" RELATED [] is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0001733 name: Pancreatitis def: "The presence of `inflammation` (MPATH:212) in the `pancreas` (FMA:7198)." [HPO:probinson] xref: MeSH:D010195 "Pancreatitis" xref: UMLS:C0030305 "Pancreatitis" is_a: HP:0012091 ! Abnormality of pancreas physiology [Term] id: HP:0001734 name: Annular pancreas def: "A congenital anomaly in which the pancreas completely (or sometimes incompletely) encircles the second portion of duodenum and occasionally obstructs the more proximal duodenum." [HPO:probinson] xref: UMLS:C0149955 "Annular pancreas" is_a: HP:0012090 ! Abnormality of pancreas morphology [Term] id: HP:0001735 name: Acute pancreatitis alt_id: HP:0004512 def: "A `acute` (PATO:0000389) form of `pancreatitis` (HP:0001733)." [HPO:probinson] synonym: "Pancreatitis, acute" EXACT [] is_a: HP:0001733 ! Pancreatitis [Term] id: HP:0001737 name: Pancreatic cysts def: "A cyst of the pancreas that possess a lining of mucous epithelium." [HPO:probinson] comment: Pancreatic cysts are to be distinguished from pancreatic pseudocysts that do not possess a lining of mucous epithelium. synonym: "Multiple pancreatic cysts" RELATED [] synonym: "Pancreatic cyst" RELATED [] xref: MeSH:D010181 "Pancreatic Cyst" xref: UMLS:C0030283 "Pancreatic cysts" is_a: HP:0012090 ! Abnormality of pancreas morphology [Term] id: HP:0001738 name: Exocrine pancreatic insufficiency alt_id: HP:0002581 alt_id: HP:0004508 alt_id: HP:0004509 def: "Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes." [HPO:probinson] synonym: "Pancreatic insufficiency" RELATED [] xref: MeSH:D010188 "Exocrine Pancreatic Insufficiency" xref: UMLS:C0267963 "Pancreatic Insufficiency" is_a: HP:0012091 ! Abnormality of pancreas physiology [Term] id: HP:0001739 name: Abnormality of the nasopharynx comment: The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. is_a: HP:0000366 ! Abnormality of the nose is_a: HP:0000600 ! Abnormality of the pharynx [Term] id: HP:0001741 name: Phimosis def: "The male foreskin cannot be fully retracted from the head of the penis." [HPO:sdoelken] xref: MeSH:D010688 "Phimosis" xref: UMLS:C0345326 "Phimosis" is_a: HP:0100587 ! Abnormality of the preputium [Term] id: HP:0001742 name: Nasal obstruction def: "Reduced ability to pass air through the nasal cavity often leading to mouth breathing." [HPO:probinson] xref: MeSH:D015508 "Nasal Obstruction" is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0001743 name: Abnormality of the spleen def: "An abnormality of the `spleen` (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. is_a: HP:0002012 ! Abnormality of the abdominal organs is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0001744 name: Splenomegaly alt_id: HP:0001745 alt_id: HP:0006269 def: "Abnormal `increased size` (PATO:0000586) of the `spleen` (FMA:7196)." [HPO:probinson] xref: MeSH:D013163 "Splenomegaly" xref: UMLS:C0038002 "Splenomegaly" is_a: HP:0001743 ! Abnormality of the spleen is_a: HP:0003271 ! Visceromegaly [Term] id: HP:0001746 name: Asplenia def: "Absence (aplasia) of the `spleen` (FMA:7196)." [HPO:curators] xref: UMLS:C0600031 "Asplenia" is_a: HP:0010451 ! Aplasia/Hypoplasia of the spleen [Term] id: HP:0001747 name: Accessory spleen def: "An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal variant mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance." [HPO:probinson] xref: UMLS:C0266631 "Supernumerary spleen" is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001748 name: Polysplenia alt_id: HP:0001749 alt_id: HP:0006271 alt_id: HP:0006272 def: "Polysplenia is a congenital disease manifested by multiple small accessory spleens." [HPO:curators] synonym: "Accessory spleens" EXACT [] synonym: "Multiple accessory spleens" EXACT [] xref: UMLS:C1856659 "Multiple accessory spleens" is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001750 name: Single ventricle xref: UMLS:C0152424 "Single ventricle" is_a: HP:0001713 ! Abnormality of cardiac ventricle [Term] id: HP:0001751 name: Vestibular dysfunction alt_id: HP:0006917 alt_id: HP:0007921 def: "An abnormality of the functioning of the vestibular apparatus." [HPO:probinson] comment: The vestibular apparatus is the nonauditory portion of the inner ear that mediates the subjective sensation of motion and spatial orientation of the head, adjusts muscular activity and body position to maintain posture, and stabilizes in space the fixation point of the eyes when the head moves, in order to provide a stable image upon the retina. The functioning of the vestibular system is often checked clinically by means of the caloric test, in which the head is tilted backward by about 60 degrees and either warm or cold water is introduced into the external auditory meatus on one side. The immediate results are usually vertigo, nausea, nystagmus, and twisting of the head and body. synonym: "Impaired vestibular function" EXACT [] synonym: "Interictal vestibular dysfunction" EXACT [] synonym: "Vestibular function defect" EXACT [] xref: UMLS:C1843865 "Vestibular dysfunction" is_a: HP:0011389 ! Functional abnormality of the inner ear [Term] id: HP:0001756 name: Vestibular hypofunction def: "Reduced functioning of the vestibular apparatus." [HPO:probinson] xref: UMLS:C1848606 "Vestibular hypofunction" is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0001757 name: High-frequency sensorineural hearing impairment def: "A form of `sensorineural hearing impairment` (HP:0008538) that affects primarily the higher frequencies." [HPO:probinson] synonym: "High frequency sensorineural hearing impairment" EXACT [] synonym: "High-tone sensorineural deafness" EXACT [] synonym: "High-tone sensorineural hearing impairment" EXACT [] xref: UMLS:C1835182 "High-tone sensorineural deafness" is_a: HP:0000407 ! Sensorineural hearing impairment [Term] id: HP:0001760 name: Abnormality of the foot alt_id: HP:0010216 alt_id: HP:0010611 def: "An abnormality of the `skeleton of foot` (FMA:24222)." [HPO:probinson] comment: A disorder of the foot that can either be congenital or acquired. Such deformities can include hammer toe, club foot deformity, flat feet, pes cavus, congenital vertical talus (rocker bottom foot), and many others. synonym: "Abnormal feet morphology" EXACT [] synonym: "Abnormality of the feet" EXACT [] synonym: "Foot deformities" EXACT [] synonym: "Foot deformity" EXACT [] xref: UMLS:C0016506 "Foot Deformity" is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0001761 name: Pes cavus def: "The presence of an unusually high `plantar arch` (FMA:43942). Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight." [HPO:probinson, pmid:19125433] xref: UMLS:C0728829 "Pes cavus" is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001762 name: Talipes equinovarus def: "Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg." [HPO:probinson] comment: Clubfoot is a complex, multifactorial deformity with genetic and intrauterine factors. One popular theory postulates that a clubfoot is a result of intrauterine maldevelopment of the talus that leads to adduction and plantarflexion of the foot. On radiographic projection a clubfoot can be noted as parallel axes of talus and calcaneus. 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: MeSH:D003025 "Clubfoot" xref: UMLS:C0009081 "Talipes Equinovarus" is_a: HP:0001883 ! Talipes [Term] id: HP:0001763 name: Pes planus def: "A foot where the `plantar arch` (FMA:43942) is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced." [HPO:probinson, pmid:19125433] synonym: "Dropped arches" RELATED [] synonym: "Fallen arches" RELATED [] synonym: "Flat feet" EXACT [] xref: MeSH:D005413 "Flatfoot" xref: UMLS:C0264133 "Pes planus" is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001765 name: Hammertoe def: "Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint." [pmid:19125433] synonym: "Hammer toe" EXACT [] synonym: "Hammertoes" EXACT [] xref: MeSH:D037801 "Hammer Toe Syndrome" xref: UMLS:C2239184 "hammer toe" is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001769 name: Broad foot def: "A foot for which the measured width is above the 95th centile for age; or, a foot that appears disproportionately wide for its length." [pmid:19125433] synonym: "Broad feet" EXACT [] xref: UMLS:C1866241 "Broad feet" is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001770 name: Toe syndactyly alt_id: HP:0001828 alt_id: HP:0005677 def: "Webbing or fusion of the toes, involving soft parts only or including bone structure. Bony fusions are revered to as \"bony\" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the toes in a proximo-distal axis are refered to as \"Symphalangism\"." [HPO:curators] synonym: "Syndactyly (feet)" EXACT [] synonym: "Syndactyly of toes" EXACT [] xref: UMLS:C0265660 "Toe syndactyly" is_a: HP:0001159 ! Syndactyly is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001771 name: Achilles tendon contracture alt_id: HP:0004711 alt_id: HP:0005031 alt_id: HP:0006430 def: "A contracture of the `Achilles tendon` (FMA:51061)." [HPO:probinson] synonym: "ACHILLES TENDON CONTRACTURES" EXACT [HPO:skoehler] synonym: "Contractures of the Achilles tendon" EXACT [] synonym: "Shortening of the achilles tendon" EXACT [] synonym: "Tight achilles tendon" EXACT [] xref: UMLS:C1857538 "Tight Achilles tendon" is_a: HP:0005109 ! Abnormality of the Achilles tendon is_a: HP:0008366 ! Contractures involving the joints of the feet [Term] id: HP:0001772 name: Talipes equinovalgus def: "A deformity of foot and ankle in which the foot is bent down and outwards." [HPO:probinson] synonym: "Equinovalgus deformity" RELATED [] xref: UMLS:C0265642 "Talipes equinovalgus" is_a: HP:0001883 ! Talipes [Term] id: HP:0001773 name: Short foot alt_id: HP:0001764 alt_id: HP:0001766 alt_id: HP:0001778 alt_id: HP:0008135 def: "A measured foot length that is more than 2 SD below the mean for a newborn of 27 - 41 weeks gestation, or foot that is less than the 3rd centile for individuals from birth to 16 years of age (objective). Alternatively, a foot that appears disproportionately short (subjective)." [HPO:probinson, pmid:19125433] synonym: "Hypoplastic feet" EXACT [] synonym: "Short feet" EXACT [] synonym: "Small feet" EXACT [] xref: UMLS:C0576224 "Small feet" xref: UMLS:C1848673 "Hypoplastic feet" is_a: HP:0001769 ! Broad foot is_a: HP:0001772 ! Talipes equinovalgus is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001775 name: Tarsal osteovalgus xref: UMLS:C1550316 "Tarsal" is_a: HP:0008365 ! Abnormality of the talus [Term] id: HP:0001776 name: Bilateral talipes equinovarus def: "Bilateral clubfoot deformity (see HP:0001762)." [HPO:probinson] synonym: "Bilateral clubfeet" EXACT [] synonym: "Bilateral clubfoot" EXACT [] xref: UMLS:C1844847 "Bilateral club feet" is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0001780 name: Abnormality of toe def: "An anomaly of a `toe` (FMA:25046)." [HPO:probinson] synonym: "Abnormalities of the toes" EXACT [] is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0011297 ! Abnormality of the digits [Term] id: HP:0001782 name: Bulbous tips of toes def: "An abnormality of the morphology of the toes, such that the tips of the toes are prominent and bulbous." [HPO:probinson] xref: UMLS:C1839520 "'Tree-frog' feet" is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001783 name: Broad metatarsal alt_id: HP:0005907 alt_id: HP:0008106 def: "Increased side-to-side width of a metatarsal bone." [HPO:probinson] synonym: "Broad metatarsals" RELATED [] synonym: "Widened metatarsal shaft" RELATED [] xref: UMLS:C1842231 "Broad metatarsals" xref: UMLS:C1850161 "Widened metatarsal shaft" is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0001785 name: Ankle swelling xref: UMLS:C0235439 "Ankle swelling" is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0001786 name: Narrow foot def: "A foot for which the measured width is below the 5th centile for age; or, a foot that appears disproportionately narrow for its length." [pmid:19125433] synonym: "Slender feet" EXACT [] xref: UMLS:C1833151 "Slender feet" is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001787 name: Abnormal delivery def: "An abnormality of the birth process." [HPO:probinson] xref: UMLS:C0549629 "Abnormal delivery" is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001788 name: Premature rupture of membranes alt_id: HP:0002163 def: "Premature rupture of membranes (PROM) is a condition which occurs in pregnancy when the amniotic sac ruptures more than an hour before the onset of labor." [HPO:probinson] is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001789 name: Hydrops fetalis def: "The abnormal accumulation of fluid in two or more fetal compartments, including ascites, pleural effusion, pericardial effusion, and skin edema." [HPO:probinson] comment: The most common causes of hydrops fetalis are hematologic (inclusing isoimmunization because of Rhesus incompatibility and other causes), hereditary hemolytic disorders, fetal hemorrhage, disorders of red cell production), cardiovascular disorders, infections, certain intrathoracic malformations, and idiopathic forms. xref: MeSH:D015160 "Hydrops fetalis" xref: UMLS:C0020305 "Hydrops Fetalis" is_a: HP:0000969 ! Edema is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0001790 name: Nonimmune hydrops fetalis def: "A type of `hydrops fetalis` (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:C0455988 "Hydrops Fetalis, Non-Immune" is_a: HP:0001789 ! Hydrops fetalis [Term] id: HP:0001791 name: Fetal ascites def: "Accumulation of fluid in the peritoneal cavity during the fetal period." [HPO:probinson] xref: UMLS:C1285291 "Fetal ascites" is_a: HP:0001197 ! Abnormality of prenatal development or birth is_a: HP:0001541 ! Ascites [Term] id: HP:0001792 name: Small nail alt_id: HP:0001813 def: "A nail that is diminished in length and width, i.e., underdeveloped `nail` (FMA:54326)." [HPO:probinson, pmid:19125433] synonym: "Hypoplastic nail" EXACT [] synonym: "Hypoplastic nails" EXACT [] synonym: "Nail hypoplasia" EXACT [] synonym: "Small nails" EXACT [] xref: UMLS:C0240439 "Nail hypoplasia" is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001795 name: Hyperconvex nail alt_id: HP:0008413 def: "When viewed on end (with the digit tip pointing toward the examiner's eye) the curve of the nail forms a tighter curve of convexity." [HPO:probinson, pmid:19125433] comment: No objective standards were identified for this finding. Another way to describe this finding is to say that the observed curve has a smaller radius than does the typical nail. The affected digits should be specified. synonym: "Nail overcurvature" EXACT [] xref: UMLS:C0221260 "Dystrophic nails" xref: UMLS:C1846074 "Hyperconvex nails" is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001798 name: Anonychia 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:C0265998 "ANONYCHIA" is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001799 name: Short nail def: "Decreased length of nail." [pmid:19125433] comment: Use this designation when the length is reduced but the width is normal. xref: UMLS:C0423808 "Short nails" is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001800 name: Hypoplastic toenails def: "Underdevelopment of the `toenail`(FMA:54328)." [HPO:probinson] xref: UMLS:C1837279 "Hypoplastic toenails" is_a: HP:0001792 ! Small nail is_a: HP:0010624 ! Aplastic/hypoplastic toenails [Term] id: HP:0001802 name: Absent toenails def: "Congenital absence of the `toenail`(FMA:54328)." [HPO:probinson] xref: UMLS:C1844555 "Absent toenails" is_a: HP:0001798 ! Anonychia is_a: HP:0010624 ! Aplastic/hypoplastic toenails [Term] id: HP:0001803 name: Nail pits def: "Small (typically about 1 mm or less in size) depressions on the dorsal nail surface." [pmid:19125433] synonym: "Nail pitting" EXACT [] synonym: "Pitted nails" EXACT [] xref: UMLS:C0150993 "Pitted nails" is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001804 name: Hypoplastic fingernail def: "Underdevelopment of a `fingernail`(FMA:54327)." [HPO:curators] xref: UMLS:C1856786 "Hypoplastic fingernails" is_a: HP:0001792 ! Small nail is_a: HP:0008384 ! Aplastic/hypoplastic fingernail [Term] id: HP:0001805 name: Thick nail alt_id: HP:0001819 def: "Nail that appears thick when viewed on end." [pmid:19125433] comment: There is a build up of keratin causing the nail plate to lift away from the nail bed. The thickened nail plate is usually very hard. synonym: "Onychogryposis" EXACT [] synonym: "Thickened nails" EXACT [] xref: UMLS:C0240444 "Thickened nails" xref: UMLS:C0263537 "Onychogryphosis" is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001806 name: Onycholysis def: "Detachment of the nail from the nail bed." [HPO:probinson] synonym: "Oncholysis" EXACT [] xref: MeSH:D054039 "Onycholysis" xref: UMLS:C0085661 "Onycholysis" is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001807 name: Ridged nail alt_id: HP:0001801 alt_id: HP:0001811 def: "Longitudinal, linear prominences in the nail plate." [pmid:19125433] comment: There may be only one, or several ridges. The affected digits should be specified. synonym: "Grooved nails" EXACT [] synonym: "Longitudinal ridging" EXACT [] synonym: "Nail ridging" EXACT [] xref: UMLS:C0423818 "Grooved nails" xref: UMLS:C0423820 "Nail ridging" xref: UMLS:C1844641 "Longitudinal ridging" is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001808 name: Fragile nails alt_id: HP:0001796 def: "Nails that easily break." [HPO:probinson] synonym: "Brittle nails" EXACT [] xref: UMLS:C1856963 "Fragile nails" is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001809 name: Split nail def: "A nail plate that has a longitudinal separation and the two sections of the nail share the same lateral radius of curvature." [pmid:19125433] comment: This is distinct from Fused nail, where the two parts of the nail have a separate radius of curvature. The affected digits should be specified as described in the introductory comments. synonym: "Longitudinal splitting of nail" EXACT [] xref: UMLS:C1844642 "Longitudinal splitting" is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001810 name: Dystrophic toenails alt_id: HP:0007558 synonym: "Dystrophic toenail changes" EXACT [] xref: UMLS:C1858546 "Dystrophic toenails" is_a: HP:0008404 ! Nail dystrophy [Term] id: HP:0001812 name: Hyperconvex fingernails def: "When viewed on end (with the finger tip pointing toward the examiner's eye) the curve of the fingernail forms a tighter curve of convexity." [HPO:probinson, pmid:19125433] xref: UMLS:C1844825 "Hyperconvex fingernails" is_a: HP:0001795 ! Hyperconvex nail [Term] id: HP:0001814 name: Thin, deep-set nails is_a: HP:0001816 ! Thin nail [Term] id: HP:0001816 name: Thin nail def: "Nail that appears thin when viewed on end." [HPO:probinson, pmid:19125433] comment: No objective standard for nail thickness could be identified. An unsupported claim suggests that nails are 0.5 mm in females and 0.6 mm in males. Thin nails are usually brittle, may easily fray, or break at the free edge. Thin nails usually grow slowly but this definition does not require slow growth of the nail. Note that the term koilonychia is an abnormal shape of the fingernail where the nail has raised ridges and is thin and concave. Since it indicates also other characteristics than thin nails, it should not be used to indicate this. The affected digits should be specified. synonym: "Thin nails" EXACT [] xref: UMLS:C0423823 "Thin nails" is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0001817 name: Absent fingernail def: "Absence of a `fingernail`(FMA:54327)." [HPO:probinson] xref: UMLS:C1844554 "Absent fingernails" is_a: HP:0001798 ! Anonychia is_a: HP:0008384 ! Aplastic/hypoplastic fingernail [Term] id: HP:0001818 name: Paronychia def: "The nail disease paronychia is an often-tender bacterial or fungal hand infection or foot infection where the nail and skin meet at the side or the base of a finger or toenail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia)." [HPO:probinson] xref: MeSH:D010304 "Paronychia" xref: UMLS:C0030578 "Paronychia" is_a: HP:0100803 ! Abnormality of the periungual region [Term] id: HP:0001820 name: Leukonychia def: "White discoloration of the `nails` (FMA:54326)." [HPO:probinson] xref: UMLS:C0240182 "Leuconychia" is_a: HP:0100643 ! Abnormality of nail color [Term] id: HP:0001821 name: Broad nail alt_id: HP:0008406 def: "Increased width of nail." [HPO:probinson] synonym: "Broad fingernails" EXACT [] synonym: "Wide fingernails" EXACT [] xref: UMLS:C1843112 "Broad fingernails" is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0001822 name: Hallux valgus alt_id: HP:0004682 def: "Lateral deviation of the great toe (i.e., in the direction of the little toe)." [HPO:curators] synonym: "Lateral deviation of great toe" EXACT [] synonym: "Lateral deviation of halluces" EXACT [] xref: MeSH:D006215 "Hallux Valgus" xref: UMLS:C0018536 "Hallux Valgus" is_a: HP:0010051 ! Deviation/Displacement of the hallux [Term] id: HP:0001824 name: Weight loss def: "Reduction inexisting body weight." [HPO:probinson] xref: MeSH:D015431 "Weight Loss" xref: UMLS:C0043096 "Decreased body weight" is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001827 name: Genital tract atresia is_a: HP:0012243 ! Abnormal genital system morphology created_by: peter creation_date: 2008-02-27T04:08:00Z [Term] id: HP:0001829 name: Polydactyly (feet) 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 [] is_a: HP:0001780 ! Abnormality of toe is_a: HP:0009136 ! Duplication involving bones of the feet is_a: HP:0010442 ! Polydactyly [Term] id: HP:0001830 name: Postaxial polydactyly of foot alt_id: HP:0010346 def: "Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit." [HPO:curators] comment: The modifier postaxial means that the supernumerary digit is not a hallux. synonym: "Fibular polydactyly" RELATED [] synonym: "Polydactyly affecting the 5th toe" EXACT [] synonym: "Postaxial polydactyly of feet" EXACT [] synonym: "Posterior polydactyly of foot" EXACT [] 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: Short toe alt_id: HP:0001767 alt_id: HP:0001781 alt_id: HP:0001855 alt_id: HP:0004701 alt_id: HP:0005889 alt_id: HP:0008099 def: "A `toe` (FMA:25046) that appears disproportionately short compared to the foot." [HPO:probinson] comment: This finding must be distinguished from digits that are of increased girth but of normal length and that of a long mid- and hind foot with normal digit lengths. The affected digits should be specified as described in the introductory comments. Note that we designate brachydactyly as a synonym, but this use of the term is distinct from the use of the same word in Bell's classification of brachdactyly. synonym: "Brachydactyly of the foot" EXACT [] synonym: "Hypoplasia of the toe" EXACT [] synonym: "Hypoplastic or dysplastic toes" EXACT [] synonym: "Hypoplastic toes" EXACT [] synonym: "Short phalanges (feet)" EXACT [] synonym: "Short toes" EXACT [] xref: UMLS:C1835156 "Hypoplastic toes" is_a: HP:0001991 ! Aplasia/Hypoplasia of the toes is_a: HP:0011927 ! Short digit [Term] id: HP:0001832 name: Abnormality of the metatarsal bones def: "Abnormalities of the `metatarsal bones` (FMA:24492) (i.e. of five tubular bones located between the tarsal bones of the hind- and mid-foot and the phalanges of the toes)." [HPO:probinson] is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001833 name: Large feet alt_id: HP:0008136 alt_id: HP:0008143 synonym: "Disproportionately large feet" EXACT [] synonym: "long feet" EXACT [] xref: UMLS:C1837801 "Large feet" is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001836 name: Camptodactyly (feet) is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0100492 ! Joint contractures involving the joints of the feet [Term] id: HP:0001837 name: Broad toe def: "Visible increase in width of the non-hallux digit without an increase in the dorso-ventral dimension." [pmid:19125433] comment: Note that the girth may be increased in a broad toe, but this must be distinguished from Macrodactyly because in Macrodactyly the length is increased as well. The affected digit should be specified. Note that this assessment may be difficult when the toes are short. This term is not used for the first digit, see Broad hallux. If all five digits are broad, both terms should be used for that patient. xref: UMLS:C1865038 "Broad toes" is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001838 name: Vertical talus alt_id: HP:0001835 alt_id: HP:0004693 alt_id: HP:0010218 def: "This foot deformity is also known as rocker bottom feet and is characterized by the presence of both a prominent heel and a convex contour of the sole." [HPO:probinson] comment: Congenital vertical talus is characterized by pes valgus, a rigid flatfoot deformity (as opposed to a flexible calcaneovalgus foot) caused by a malpositioned navicular bone at the neck of the talus; the ankle is in severe equinus and the forefoot in dorsiflexion, rocker bottom-like, accompanied by contraction of the talonavicular, deltoid and calcaneal cuboidal ligaments. The foot examination usually reveals a rigid foot with a "reversed" arch, a convex plantar surface, and a deep crease on the lateral dorsal side of the foot. The ankle joint is plantarflexed, while the midfoot and forefoot are extended upward. Lateral foot radiographs are helpful in confirming the diagnosis. synonym: "Congenital vertical talus" EXACT [] synonym: "Rocker bottom feet" EXACT [] synonym: "Rocker-bottom feet" EXACT [] synonym: "Rockerbottom feet" EXACT [] xref: UMLS:C0431979 "Congenital vertical talus" is_a: HP:0008365 ! Abnormality of the talus [Term] id: HP:0001839 name: Ectrodactyly (feet) 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:C0432028 "Split foot" is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0100257 ! Ectrodactyly [Term] id: HP:0001840 name: Metatarsus adductus alt_id: HP:0001768 alt_id: HP:0010217 def: "The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body." [HPO:probinson, pmid:19125433] comment: Metatarsus varus (adductus) is one of the most common foot deformities, that is defined as a transverse plane deformity in Lisfranc's (tarsometatarsal) joints in which the metatarsals are deviated medially. The relationship between talus and calcaneus is normal. On inspection the toes angle abruptly towards the midline, creating a C-shaped lateral foot border with a prominent styloid process of the 5th metatarsal. The result is that the forefoot is twisted inwards relative to the heel, so that the sole faces the midline. synonym: "Forefoot varus" EXACT [] synonym: "Intoe" RELATED [] synonym: "Metatarsus adductovarsus" EXACT [] synonym: "Metatarsus varus" EXACT [] xref: UMLS:C0265647 "Metatarsus varus" is_a: HP:0001832 ! Abnormality of the metatarsal bones [Term] id: HP:0001841 name: Preaxial polydactyly of foot alt_id: HP:0009607 alt_id: HP:0010050 def: "Duplication of all or part of the first ray." [HPO:probinson, pmid:19125433] comment: This term applies for a wide variety of partial and/or complete duplications of the phalanges of the big toe (sometimes including the 1st metatarsal). A partial duplication can present itself on x-rays as a notched phalanx, bifid phalanx or a broadened phalanx. Polydactyly affecting the big toe is called preaxial or hallucal polydactyly of the feet. synonym: "Partial/complete duplication of the phalanges of the big toe" EXACT [HPO:curators] synonym: "Polydactyly affecting the hallux" EXACT [] synonym: "Preaxial hallucal polydactyly" EXACT [] synonym: "Preaxial polydactyly (feet)" EXACT [] synonym: "Preaxial polydactyly of feet" EXACT [] synonym: "Preaxial polydactyly of the feet" EXACT [HPO:curators] synonym: "Preaxial polydactyly, feet" EXACT [] xref: UMLS:C1866339 "PREAXIAL HALLUCAL POLYDACTYLY" 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) is_a: HP:0009134 ! Osteolysis involving bones of the feet is_a: HP:0010177 ! Osteolytic defects of the phalanges of the toes [Term] id: HP:0001844 name: Abnormality of the hallux def: "This term applies for all abnormalities of the big toe, also called hallux." [HPO:curators] synonym: "Abnormalities of the hallux " EXACT [] is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001845 name: Overlapping toe def: "Describes a foot digit resting on the dorsal surface of an adjacent digit when the foot is at rest." [HPO:probinson, pmid:19125433] comment: This descriptor is ordered depending on which toes are involved. The overriding toe is labeled, as specified in the introduction (item 3): e.g., T3,4. The ordering of the numbers specifies which toe is dorsal, i.e., with dorsum of the foot facing upward the toe on top is/are recorded first separated by a comma from the digit that is/are overlapped. Toes that are laterally deviated, but do not rest on top of adjacent toes should be coded as Clinodactyly. synonym: "Crossover toe" RELATED [] synonym: "OVERLAPPING TOES" EXACT [HPO:skoehler] synonym: "Overriding toes" EXACT [] xref: UMLS:C0920299 "Crossover toe" is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001847 name: Long hallux alt_id: HP:0001867 def: "Increased length of the `big toe` (FMA:25047)." [HPO:probinson] synonym: "Increased length of the hallux" EXACT [] synonym: "Large halluces" EXACT [] synonym: "Long halluces" EXACT [] is_a: HP:0001844 ! Abnormality of the hallux is_a: HP:0010511 ! Long toe [Term] id: HP:0001848 name: Calcaneovalgus deformity alt_id: HP:0001774 alt_id: HP:0008120 def: "This is a postural deformity in which the foot is positioned up against the tibia. The heel (calcaneus) is positioned downward (that is, the ankle is flexed upward), and the heel is turned outward (valgus)." [HPO:probinson] comment: Calcaneovalgus deformity may be related to abnormal positioning of the foot in utero and can resolve spontaneously after birth. synonym: "Calcaneovalgus" EXACT [] synonym: "Calcaneovalgus Foot" EXACT [] synonym: "Valgus position of the calcaneus" EXACT [] xref: UMLS:C1866492 "Calcaneovalgus deformities" is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0001849 name: Oligodactyly (feet) alt_id: HP:0001777 def: "A developmental defect resulting in the presence of fewer than the normal number of toes." [HPO:probinson] synonym: "Missing toes" EXACT [] synonym: "Oligodactyly of feet" EXACT [] xref: UMLS:C2144104 "Missing toes" is_a: HP:0010760 ! Absent toe is_a: HP:0012165 ! Oligodactyly [Term] id: HP:0001850 name: Abnormality of the tarsal bones def: "An abnormality of the tarsus are the cluster of seven bones in the foot between the tibia and fibula and the metatarsus, including the calcaneus (heel) bone and the talus (ankle) bone." [HPO:curators] is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001852 name: Sandal gap def: "A widely spaced gap between the first toe (the great toe) and the second toe." [HPO:probinson, pmid:19125433] synonym: "Gap between 1st and 2nd toes" EXACT [] synonym: "Gap between first and second toe" EXACT [] synonym: "Increased space between first and second toes" EXACT [] synonym: "Sandal gap between first and second toes" EXACT [] synonym: "Space between great toe and second toe" EXACT [] synonym: "Wide space between 1st, 2nd ties" EXACT [] synonym: "Wide space between first and second toes" EXACT [] synonym: "Widely spaced 1st-2nd toes" EXACT [] synonym: "Widely spaced first and second toes" EXACT [] synonym: "Widened gap 1st-2nd toes" EXACT [] synonym: "Widened gap first and second toe" EXACT [] xref: UMLS:C1859769 "Widened gap 1st-2nd toes" is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001853 name: Bifid distal phalanx of toe alt_id: HP:0005615 synonym: "Bifid distal phalanges of toes" EXACT [] synonym: "Bifid terminal phalanx of toe" EXACT [] is_a: HP:0009136 ! Duplication involving bones of the feet [Term] id: HP:0001854 name: Gout (feet) def: "`Gout` (HP:0001997) affecting the `Metatarsophalangeal joint of big toe`." [HPO:sdoelken] synonym: "Podagra" EXACT [] is_a: HP:0001760 ! Abnormality of the foot is_a: HP:0001997 ! Gout [Term] id: HP:0001857 name: Short distal phalanx of toe def: "Short distance from the end of the toe to the most distal interphalangeal crease or distal interphalangeal joint flexion point, i.e., abnormally short `distal phalanx of toe` (FMA:75830)." [pmid:19125433] comment: This term differs from Partial absence of the toe because in that term the phalanx must be missing, whereas here it may be small, but present. Relative shortening of the distal phalanges of the toes can be harder to assess than in the fingers, as they are normally quite short. Distal phalangeal lengths can be assessed subjectively by comparing that digit segment to the rest of the digit, to other normal digits in that patient, or to typical patients of that age or build. synonym: "Hypoplastic distal phalanges (feet)" EXACT [] is_a: HP:0001831 ! Short toe is_a: HP:0010185 ! Aplasia/Hypoplasia of the distal phalanges of the toes [Term] id: HP:0001859 name: Distal symphalangism (feet) alt_id: HP:0100236 is_a: HP:0010179 ! Symphalangism affecting the phalanges of the toes is_a: HP:0100235 ! Synostosis involving bones of the toes is_a: HP:0100263 ! Distal symphalangism [Term] id: HP:0001862 name: Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) is_a: HP:0001868 ! Autoamputation (feet) is_a: HP:0200042 ! Skin ulcer [Term] id: HP:0001863 name: Toe clinodactyly def: "Bending or curvature of a `toe` (FMA:25046) in the tibial direction (i.e., towards the big toe)." [HPO:probinson] synonym: "Clinodactyly of feet" EXACT [] is_a: HP:0001780 ! Abnormality of toe [Term] id: HP:0001864 name: Fifth toe clinodactyly def: "Bending or curvature of a `fifth toe` (FMA:25053) in the tibial direction (i.e., towards the big toe)." [HPO:probinson] xref: UMLS:C1861397 "Fifth toe clinodactyly" is_a: HP:0001863 ! Toe clinodactyly [Term] id: HP:0001868 name: Autoamputation (feet) is_a: HP:0001218 ! Autoamputation is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001869 name: Deep plantar creases def: "The presence of unusually deep creases (ridges/wrinkles) on the `skin of sole of foot` (FMA:37849)." [HPO:probinson] xref: UMLS:C1857953 "Deep plantar creases" is_a: HP:0100872 ! Abnormality of the plantar skin of foot [Term] id: HP:0001870 name: Acroosteolysis of distal phalanges (feet) is_a: HP:0001842 ! Acroosteolysis (feet) is_a: HP:0010189 ! Osteolytic defects of the distal phalanges of the toes [Term] id: HP:0001871 name: Abnormality of blood and blood-forming tissues alt_id: HP:0003135 def: "An abnormality of the `hematopoietic system` (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: "Abnormality of the hematopoietic system" EXACT [] synonym: "Hematologic disease" RELATED [] synonym: "Hematological abnormality" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001872 name: Abnormality of thrombocytes alt_id: HP:0004807 alt_id: HP:0005554 def: "An abnormality of `platelets` (CL:0000233)." [HPO:probinson] comment: Platelets, also known as thrombocytes, are non-nucleated disk-shaped cells mainly involved in blood coagulation. synonym: "Blood platelet disease" RELATED [] synonym: "Platelet abnormalities" EXACT [] synonym: "Thrombasthenia" RELATED [] xref: MeSH:D013915 "Thrombasthenia" xref: UMLS:C0040015 "Thrombasthenia" xref: UMLS:C0151854 "Abnormal platelets" is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001873 name: Thrombocytopenia alt_id: HP:0001906 alt_id: HP:0004838 alt_id: HP:0008175 alt_id: HP:0008268 alt_id: HP:0008302 def: "A reduction in the number of circulating `thrombocytes` (CL:0000762)." [HPO:probinson] comment: Thrombocytopenia can be divided into three major causes; 1) low production of platelets in the bone marrow; 2) intravascular breakdown of thrombocytes; and 3) increased turnover of platelets in spleen or liver (extravascular). synonym: "Low platelet count" EXACT [] xref: MeSH:D013921 "Thrombocytopenia" is_a: HP:0011873 ! Abnormal platelet count [Term] id: HP:0001874 name: Abnormality of neutrophils 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. synonym: "Abnormality of polymorphonuclear neutrophils" EXACT [] is_a: HP:0001911 ! Abnormality of granulocytes [Term] id: HP:0001875 name: Neutropenia 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] comment: Mild neutropenia is defined as an absolute neutrophil cont between 1000 and 1500 cells per microliter, moderte as between 500 and 100, and severe as less than 500 cells. synonym: "Peripheral neutropenia" EXACT [] xref: MeSH:D009503 "Neutropenia" xref: UMLS:C0027947 "Neutropenia" is_a: HP:0011991 ! Abnormal neutrophil cell number [Term] id: HP:0001876 name: Pancytopenia def: "An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets)." [HPO:probinson] xref: MeSH:D010198 "Pancytopenia" xref: UMLS:C0030312 "Pancytopenia" is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow [Term] id: HP:0001877 name: Abnormality of erythrocytes alt_id: HP:0010973 def: "An abnormality of `erythrocytes` (CL:0000232) (red-blood cells)." [HPO:probinson] synonym: "Abnormality of erythroid lineage cell" RELATED [] synonym: "Abnormality of red blood cells" EXACT [] is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001878 name: Hemolytic anemia alt_id: HP:0001910 alt_id: HP:0004827 alt_id: HP:0004853 alt_id: HP:0004868 alt_id: HP:0005503 def: "A type of anemia caused by premature destruction of red blood cells (hemolysis)." [HPO:probinson] comment: Normally, erythrocytes survive on average about 110-120 days. With hemolysis, the erythrocyte survival is shortened, and generally increased marrow activity results in a reticulocyte count. synonym: "Haemolytic anaemia" EXACT [] synonym: "Increased hemolysis" EXACT [] xref: MeSH:D000743 "Anemia, Hemolytic" xref: UMLS:C0002878 "Anemia, Hemolytic" is_a: HP:0011895 ! Anemia due to reduced life span of red cells [Term] id: HP:0001879 name: Abnormality of eosinophils def: "An `eosinophil` (CL:0000771) abnormality." [HPO:probinson] is_a: HP:0001911 ! Abnormality of granulocytes [Term] id: HP:0001880 name: Eosinophilia def: "Increased count of `eosinophils` (CL:0000771) in the `blood` (FMA:9670)." [HPO:sdoelken] xref: MeSH:D004802 "Eosinophilia" xref: UMLS:C0014457 "Eosinophilia" is_a: HP:0001879 ! Abnormality of eosinophils is_a: HP:0001974 ! Leukocytosis [Term] id: HP:0001881 name: Abnormality of leukocytes 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:C1856364 "Abnormal leukocyte function" is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues is_a: HP:0010987 ! Abnormality of cellular immune system [Term] id: HP:0001882 name: Leukopenia def: "An abnormal decreased number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson] xref: MeSH:D007970 "Leukopenia" xref: UMLS:C0023530 "Leukopenia" is_a: HP:0011893 ! Abnormal leukocyte count [Term] id: HP:0001883 name: Talipes def: "A deformity of foot and ankle that has different subtypes that are talipes equinovarus, talipes equinovalgus, talipes calcaneovarus and talipes calcaneovalgus." [HPO:sdoelken] comment: Talipes means (a deformity of) foot and ankle. There are four types of talipes.\n1) Talipes equinovarus - the foot is pointing inwards and down (the most common form)\n2) Talipes equinovalgus - where the foot points outwards and down\n3) Talipes calcaneovarus - where the foot points inwards and up\n4) Talipes calcaneovalgus - where the foot points inwards and down. xref: UMLS:C1301937 "Talipes" is_a: HP:0005656 ! Positional foot deformities [Term] id: HP:0001884 name: Talipes calcaneovalgus def: "Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \"up and out\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg." [HPO:curators] synonym: "Pes calcaneovarus" EXACT [] is_a: HP:0001883 ! Talipes [Term] id: HP:0001885 name: Short 2nd toe def: "Underdevelopment (hypoplasia) of the `second toe` (FMA:25048)." [HPO:probinson] synonym: "Short second toe" EXACT [] is_a: HP:0001831 ! Short toe [Term] id: HP:0001886 name: Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) is_a: HP:0000763 ! Sensory neuropathy is_a: HP:0001760 ! Abnormality of the foot [Term] id: HP:0001888 name: Lymphopenia def: "A reduced number of `lymphocytes` (CL:0000542) in the blood." [HPO:probinson] synonym: "Lymphocytopenia" EXACT [] xref: MeSH:D008231 "Lymphopenia" xref: UMLS:C0024312 "Lymphopenia" is_a: HP:0004332 ! Abnormality of lymphocytes is_a: HP:0012140 ! Abnormality of cells of the lymphoid lineage [Term] id: HP:0001889 name: Megaloblastic anemia alt_id: HP:0004858 def: "Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts)." [HPO:probinson] comment: Megaloblastic anemia can result from folic acid deficiency or vitamin B12 deficiency. Folate deficiency leads to an impairment of DNA synthesis such that the cell cycle cannot progress from the G2 growth stage to the mitosis stage, in turn leading to continuing cell growth without division, which presents as macrocytosis. xref: MeSH:D000749 "Anemia, Megaloblastic" is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0001890 name: Autoimmune hemolytic anemia def: "An autoimmune form of `hemolytic anemia` (HP:0001878)." [HPO:probinson] synonym: "Autoimmune haemolytic anaemia" EXACT [] synonym: "Hemolytic anemia, autoimmune" EXACT [] xref: MeSH:D000744 "Anemia, Hemolytic, Autoimmune" xref: UMLS:C0002880 "Autoimmune haemolytic anaemia" is_a: HP:0001878 ! Hemolytic anemia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001891 name: Iron deficiency anemia synonym: "Iron-deficiency anemia" EXACT [] xref: MeSH:D018798 "Anemia, iron-deficiency" xref: UMLS:C0162316 "Iron deficiency anaemia" is_a: HP:0001931 ! Hypochromic anemia [Term] id: HP:0001892 name: Abnormal bleeding alt_id: HP:0004830 alt_id: HP:0004834 alt_id: HP:0004849 alt_id: HP:0004862 alt_id: HP:0004865 alt_id: HP:0008183 def: "An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects." [HPO:probinson] comment: This term is kept for historical reasons. If possible, a more exact description of the phenotype (i.e., whether there is a vascular, platelet and coagulation defect) should be attempted. synonym: "Bleeding diathesis" EXACT [] synonym: "Bleeding tendency" EXACT [] synonym: "Hemorrhagic diathesis" EXACT [] xref: UMLS:C1458140 "Bleeding diathesis" is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001894 name: Thrombocytosis def: "Increased numbers of platelets in the peripheral blood." [HPO:probinson] synonym: "Increased platelet count" EXACT [] xref: MeSH:D013922 "Thrombocytosis" xref: UMLS:C0836924 "thrombocytosis" is_a: HP:0011873 ! Abnormal platelet count [Term] id: HP:0001895 name: Normochromic anemia xref: UMLS:C0235983 "Normochromic anaemia" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001896 name: Reticulocytopenia def: "A reduced number of `reticulocytes` (CL:0000558) in the peripheral blood." [HPO:probinson] xref: UMLS:C0858867 "Reticulocytopenia" is_a: HP:0004312 ! Abnormality of reticulocytes [Term] id: HP:0001897 name: Normocytic anemia def: "A kind of anemia in which the volume of the red blood cells is normal." [HPO:probinson] comment: In normocytic anemia, the mean corpuscular volume (MCV) is within normal limits (80-100 fl in adults). xref: UMLS:C0085577 "Normocytic anaemia" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001898 name: Increased red blood cell mass def: "The presence of an increased mass of red blood cells in the circulation." [HPO:probinson] xref: UMLS:C1853288 "Increased red blood cell mass" is_a: HP:0001901 ! Polycythemia [Term] id: HP:0001899 name: Increased hematocrit def: "An increase in the volume of packed erythrocytes in a blood specimen." [HPO:probinson] xref: UMLS:C0239935 "Increased hematocrit" is_a: HP:0001901 ! Polycythemia [Term] id: HP:0001900 name: Increased hemoglobin xref: UMLS:C0549448 "Increased haemoglobin" is_a: HP:0001901 ! Polycythemia [Term] id: HP:0001901 name: Polycythemia alt_id: HP:0001893 def: "Polycythemia is diagnosed if the red blood cell count, the hemoglobin level, and the red blood cell volume all exceed the upper limits of normal." [HPO:probinson] synonym: "Erythrocytosis" EXACT [] xref: MeSH:D011086 "Polycythemia" xref: UMLS:C1527405 "Erythrocytosis" is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0001902 name: Giant platelets def: "Giant platelets are larger than 7 micrometers and usually 10 to 20 micrometers. The term giant platelet is used when the platelet is larger than the size of the average red cell in the field. (Description adapted from College of American Pathologists, Hematology Manual, 1998)." [HPO:probinson] xref: UMLS:C0333864 "Giant platelets" is_a: HP:0011877 ! Increased mean platelet volume [Term] id: HP:0001903 name: Anemia alt_id: HP:0001926 alt_id: HP:0003136 alt_id: HP:0005509 def: "A reduction in `erythrocytes` (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 [] synonym: "Decreased hemoglobin" RELATED [] xref: MeSH:D000740 "Anemia" xref: UMLS:C0162119 "Decreased haemoglobin" xref: UMLS:C1000483 "Anemia" is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0001904 name: Autoimmune neutropenia def: "Autoimmune-induced `neutropenia` (HP:0001875)." [HPO:probinson] xref: UMLS:C0340971 "Autoimmune neutropenia" is_a: HP:0001875 ! Neutropenia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001905 name: Congenital thrombocytopenia alt_id: HP:0004869 def: "Thrombocytopenia with congenital onset." [HPO:probinson] synonym: "thrombocytopenia, congenital" EXACT [] xref: UMLS:C0272278 "Congenital thrombocytopenia" is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0001907 name: Thromboembolism def: "The formation of a blood clot inside a blood vessel that subsequently travels through the blood stream from the site where it formed to another location in the body, generally leading to vascular occlusion at the distant site." [HPO:probinson] synonym: "Embolism and thrombosis" RELATED [] synonym: "Thromboembolic disease" EXACT [] synonym: "Thromboembolic events" EXACT [] xref: MeSH:D013923 "Thromboembolism" xref: UMLS:C0040038 "Thromboembolic disease" is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0001908 name: Hypoplastic anemia def: "Anemia with varying degrees of erythrocytic hypoplasia without leukopenia or thrombocytopenia." [HPO:probinson] xref: UMLS:C0178416 "Hypoplastic anaemia" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001909 name: Leukemia alt_id: HP:0005519 alt_id: HP:0006726 def: "A cancer of the blood and bone marrow characterized by an abnormal proliferation of leukocytes." [HPO:probinson] xref: MeSH:D007938 "Leukemia" xref: UMLS:C0023418 "LEUKAEMIA" is_a: HP:0001881 ! Abnormality of leukocytes is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0001911 name: Abnormality of granulocytes alt_id: HP:0005438 def: "An abnormality of `granulocytes` (CL:0000094)." [HPO:probinson] synonym: "Abnormality of neutrophil" EXACT [] is_a: HP:0010974 ! Abnormality of myeloid leukocytes [Term] id: HP:0001912 name: Abnormality of basophils def: "A `basophils` (CL:0000767) abnormality." [HPO:probinson] is_a: HP:0001911 ! Abnormality of granulocytes [Term] id: HP:0001913 name: Granulocytopenia def: "An abnormally reduced number of `granulocytes` (CL:0000094) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C0001824 "Granulocytopenia" is_a: HP:0001911 ! Abnormality of granulocytes [Term] id: HP:0001915 name: Aplastic anemia def: "Aplastic anemia is defined as pancytopenia with a hypocellular marrow." [HPO:probinson, pmid:21239768] comment: Aplastic anemia is characterized by reduced numbers of all blood cell types (red blood cells, white blood cells, and platelets) owing to reduced production. xref: MeSH:D000741 "Anemia, Aplastic" xref: UMLS:C0002874 "Aplastic Anemia" is_a: HP:0001876 ! Pancytopenia [Term] id: HP:0001917 name: Renal amyloidosis def: "A form of `amyloidosis` (HP:0011034) that affects the `kidney` (FMA:7203)." [HPO:probinson] xref: UMLS:C0268382 "Renal amyloidosis" is_a: HP:0011034 ! Amyloidosis is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0001919 name: Acute renal failure def: "Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia)." [HPO:probinson] comment: Acute renal failure is usually classified into prerenal (response to severe volume depletion), intrinsic (response to acute cytotoxic, ischemic, or inflammatory insults) and postrenal (response to obstruction of the passage of urine) etiologies. synonym: "Acute kidney injury" EXACT [] xref: MeSH:D058186 "Acute Kidney Injury" xref: UMLS:C0022660 "Renal Failure, Acute" is_a: HP:0000083 ! Renal insufficiency [Term] id: HP:0001920 name: Renal artery stenosis def: "The presence of `stenosis` (MPATH:80) of the `renal artery` (FMA:14751)." [HPO:probinson] xref: UMLS:C0035067 "Renal Artery Stenosis" is_a: HP:0008776 ! Abnormality of the renal artery is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0001922 name: Vacuolated lymphocytes alt_id: HP:0008147 alt_id: HP:0008329 def: "The presence of clear, sharply defined vacuoles in the lymphocyte cytoplasm." [HPO:probinson, pmid:20633042] comment: Vacuolated lymphocytes occur most commonly as the peripheral blood manifestation of inherited metabolic disorders, including Niemann-Pick disease Type A, infantile sialic acid storage disorder, Wolman's disease, Mucolipidoses II and III, Salla disease, mannosidosis, Batten disease, GM1 gangliosidosis, neuraminidase deficiency, galactosidosis, fucosidosis, Pompe's disease, aspartylglycosaminuria and rarely, multiple sulfatase deficiency. The metabolic product, which causes vacuolation, depends on the specific enzyme deficiency. synonym: "Enlarged lysosomal vacuoles in lymphocytes" EXACT [] synonym: "Vacuolated blood lymphocytes" EXACT [] xref: UMLS:C1836855 "Vacuolated lymphocytes" is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0001923 name: Reticulocytosis def: "An elevation in the number of `reticulocytes` (CL:0000558) (immature erythrocytes) in the peripheral blood circulation." [HPO:probinson] synonym: "Increased reticulocyte count" EXACT [] synonym: "Increased reticulocytes" EXACT [] xref: MeSH:D045262 "Reticulocytosis" xref: UMLS:C0206160 "Reticulocytosis" is_a: HP:0004312 ! Abnormality of reticulocytes [Term] id: HP:0001924 name: Sideroblastic anemia alt_id: HP:0100791 def: "Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining)." [HPO:probinson] comment: Sideroblastic anemia may be either congenital or acquired. In sideroblastic anemia, the hematocrit tends to be around 20 to 30 percent, and the mean corpuscular volume is normal or low. synonym: "Hypersideremic anemia" EXACT [] xref: MeSH:D000756 "Anemia, Sideroblastic" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001927 name: Acanthocytosis alt_id: HP:0005552 def: "Acanthocytosis is a type of `poikilocytosis` (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: MeSH:D000050 "Acanthocytes" xref: UMLS:C0000886 "Acanthocytes" is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0001928 name: Abnormality of coagulation def: "An abnormality of the process of `blood coagulation` (GO:0007596). That is, altered ability or inability of the blood to clot." [HPO:probinson] synonym: "Abnormal blood coagulation studies" EXACT [] synonym: "Blood coagulation disorder" RELATED [] synonym: "Coagulation abnormalities" EXACT [] synonym: "Coagulation abnormality" EXACT [] synonym: "Haemorrhagic disorders" EXACT [HPO:sdoelken] xref: UMLS:C1846821 "Coagulation abnormalities" is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001929 name: Reduced factor XI activity def: "Decreased activity of `coagulation factor XI` (PR:000007295). Factor XI, also known as plasma thromboplastin antecedent, is a serine proteinase that activates factor IX." [HPO:probinson] synonym: "Factor XI deficiency" RELATED [] xref: UMLS:C1414498 "Factor XI deficiency" is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0001930 name: Nonspherocytic hemolytic anemia xref: UMLS:C0002878 "Anemia, Hemolytic" is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001931 name: Hypochromic anemia def: "A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes." [HPO:probinson] comment: The low concentration of hemoglobin in the erythrocytes causes them to be abnormally pale, i.e., to have less color (be hypochromic). xref: MeSH:D000747 "Anemia, Hypochromic" xref: UMLS:C0002884 "Hypochromic anaemia, NOS" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001933 name: Subcutaneous hemorrhage def: "This term refers to an abnormally increased susceptibility to bruising (purpura, petechiae, or ecchymoses)." [HPO:probinson] comment: Purpura measure 0.3-1 cm (3-10 mm), whereas petechiae measure less than 3 mm, and ecchymoses greater than 1 cm. is_a: HP:0001892 ! Abnormal bleeding is_a: HP:0011276 ! Vascular skin abnormality created_by: peter creation_date: 2008-02-28T07:14:00Z [Term] id: HP:0001934 name: Persistent bleeding after trauma alt_id: HP:0007463 synonym: "Excessive bleeding after minor trauma" EXACT [] synonym: "Frequent bleeding with trauma" EXACT [] synonym: "Prolonged bleeding after minor trauma" EXACT [] is_a: HP:0001892 ! Abnormal bleeding [Term] id: HP:0001935 name: Microcytic anemia def: "A kind of anemia in which the volume of the red blood cells is reduced." [HPO:probinson] comment: In normocytic anemia, the mean corpuscular volume (MCV) is below normal limits (>80 fl in adults). xref: UMLS:C0085576 "Microcytic anaemia" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001937 name: Microangiopathic hemolytic anemia xref: UMLS:C1268935 "MICROANGIOPATHIC HEMOLYTIC ANEMIA" is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001939 name: Abnormality of metabolism/homeostasis alt_id: HP:0002146 synonym: "Laboratory abnormality" EXACT [] synonym: "Metabolism abnormality" EXACT [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0001941 name: Acidosis alt_id: HP:0001940 def: "Abnormal acid accumulation or depletion of base." [HPO:probinson] comment: Acidosis is a condition in which there is excessive acid in the body fluids. synonym: "acidemia" EXACT [HPO:SKOEHLER] xref: MeSH:D000138 "Acidosis" xref: UMLS:C0001122 "Acidosis" is_a: HP:0004360 ! Abnormality of acid-base homeostasis [Term] id: HP:0001942 name: Metabolic acidosis alt_id: HP:0004895 alt_id: HP:0004907 def: "Acid accumulation or depletion of base in the body due to buildup of metabolic acids." [HPO:probinson] xref: UMLS:C0220981 "Metabolic acidosis" is_a: HP:0001941 ! Acidosis [Term] id: HP:0001943 name: Hypoglycemia alt_id: HP:0003356 def: "A `decreased concentration` (PATO:0001163) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670)." [HPO:curators] synonym: "Hypoglycaemia " EXACT [] xref: MeSH:D007003 "Hypoglycemia" xref: UMLS:C0020615 "Hypoglycemia" is_a: HP:0011015 ! Abnormality of blood glucose concentration [Term] id: HP:0001944 name: Dehydration xref: MeSH:D003681 "Dehydration" xref: UMLS:C0011175 "Dehydration" is_a: HP:0011032 ! Abnormality of fluid regulation [Term] id: HP:0001945 name: Fever def: "Elevated body temperature due to failed thermoregulation." [HPO:sdoelken] comment: Hyperthermia is defined as a temperature greater than 37.5-38.3 °C (100-101 °F). synonym: "Hyperthermia" EXACT [] synonym: "Pyrexia" EXACT [] xref: MeSH:D005334 "Fever" xref: UMLS:C0424755 "fever" is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0001946 name: Ketosis alt_id: HP:0003543 def: "Presence of elevated levels of ketone bodies in the body." [HPO:probinson] comment: Ketone bodies are formed from acetyl-CoA in the liver by ketogenesis when the liver glycogen stores are depleted. Ketone bodies are acidic, and ketoacidosis ensues if the compensatory mechanisms are overloaded. synonym: "Ketonemia" EXACT [] xref: MeSH:D007662 "Ketosis" xref: UMLS:C0022638 "Ketosis" xref: UMLS:C0235430 "Ketonaemia" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0001947 name: Renal tubular acidosis def: "Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis." [HPO:probinson] xref: MeSH:D000141 "Acidosis, Renal Tubular" xref: UMLS:C0001126 "Renal tubular acidosis" is_a: HP:0000124 ! Renal tubular dysfunction is_a: HP:0001941 ! Acidosis [Term] id: HP:0001948 name: Alkalosis def: "Depletion of acid or accumulation base in the body fluids." [HPO:probinson] xref: MeSH:D000471 "Alkalosis" xref: UMLS:C0002063 "Alkalosis" is_a: HP:0004360 ! Abnormality of acid-base homeostasis [Term] id: HP:0001949 name: Hypokalemic alkalosis xref: UMLS:C0004775 "Hypokalemic Alkalosis" is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001950 name: Respiratory alkalosis def: "Alkalosis due to excess loss of carbon dioxide from the body." [HPO:probinson] xref: MeSH:D000472 "Alkalosis, Respiratory" xref: UMLS:C0002064 "Alkalosis, Respiratory" is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001951 name: Episodic ammonia intoxication xref: UMLS:C1839541 "Episodic ammonia intoxication" is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis [Term] id: HP:0001952 name: Abnormal glucose tolerance def: "An `abnormal` (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:C0235401 "Abnormal glucose tolerance" is_a: HP:0011014 ! Abnormal glucose homeostasis [Term] id: HP:0001953 name: Diabetic ketoacidosis alt_id: HP:0008253 def: "A type of diabetic metabolic abnormality with an accumulation of ketone bodies." [HPO:probinson] synonym: "Diabetic ketosis" EXACT [] xref: MeSH:D016883 "Diabetic ketoacidosis" xref: UMLS:C0011880 "Diabetic Ketoacidosis" is_a: HP:0000819 ! Diabetes mellitus is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0001954 name: Episodic fever alt_id: HP:0004903 alt_id: HP:0005962 alt_id: HP:0005966 alt_id: HP:0005980 def: "Periodic (episodic or recurrent) bouts of fever." [HPO:probinson] comment: This term should not be used for new annotations. Rather, the frequency of patients with the disease who have recurrent episodes of fever should be noted in the annotation file. This term will be obsoleted in the future. synonym: "Hyperthermia, episodic" EXACT [] synonym: "Increased body temperature, episodic" EXACT [] synonym: "Intermittent fever" EXACT [] xref: UMLS:C0277799 "Intermittent fever" is_a: HP:0001945 ! Fever [Term] id: HP:0001955 name: Unexplained fevers def: "Episodes of fever for which no infectious cause can be identified." [HPO:curators] xref: UMLS:C1844662 "Unexplained fevers" is_a: HP:0001945 ! Fever [Term] id: HP:0001956 name: Truncal obesity alt_id: HP:0008885 def: "Obesity located preferentially in the trunk of the body as opposed to the extremities." [HPO:probinson] synonym: "Centripetal obesity" EXACT [] xref: UMLS:C0311277 "Truncal obesity" is_a: HP:0001513 ! Obesity [Term] id: HP:0001958 name: Nonketotic hypoglycemia xref: UMLS:C1865292 "Hypoglycemia, nonketotic" is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001959 name: Polydipsia xref: MeSH:D059606 "Polydipsia" xref: UMLS:C0085602 "POLYDYPSIA" is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0001960 name: Hypokalemic metabolic alkalosis xref: UMLS:C0740898 "Hypokalemic metabolic alkalosis" is_a: HP:0001949 ! Hypokalemic alkalosis [Term] id: HP:0001961 name: Hypoplastic heart is_a: HP:0002564 ! Malformation of the heart and great vessels [Term] id: HP:0001962 name: Palpitations def: "A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia." [HPO:probinson] xref: UMLS:C0030252 "Palpitations" is_a: HP:0011675 ! Arrhythmia [Term] id: HP:0001963 name: Abnormal speech discrimination def: "A type of hearing impairment prominently characterized by a difficulty in understanding speech, rather than an inability to hear speech. Poor speech discrimination is a very common symptom of high frequency hearing loss." [HPO:curators] synonym: "Poor speech discrimination" EXACT [] xref: UMLS:C1836752 "Abnormal speech discrimination" is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0001964 name: Aplasia/Hypoplasia of metatarsal bones def: "Absence or underdevelopment of the metatarsal bones." [HPO:curators] synonym: "Absent or hypoplastic metatarsal" EXACT [] synonym: "Absent/hypoplastic metacarpals" EXACT [] synonym: "Aplastic/hypoplastic metatarsals" EXACT [] is_a: HP:0001832 ! Abnormality of the metatarsal bones is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001965 name: Abnormality of the scalp def: "Abnormality of the `scalp` (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. is_a: HP:0000234 ! Abnormality of the head [Term] id: HP:0001966 name: Mesangial abnormality def: "An abnormality of the `mesangium` (FMA:84139), i.e., of the central part of the renal glomerulus between capillaries." [HPO:probinson] is_a: HP:0012210 ! Abnormal renal morphology [Term] id: HP:0001967 name: Diffuse mesangial sclerosis def: "Diffuse sclerosis of the `mesangium` (FMA:84139), as manifestated by diffuse mesangial matrix expansion." [HPO:probinson] comment: This finding can be demonstrated by renal biopsy. synonym: "Mesangial sclerosis" EXACT [] xref: UMLS:C0268747 "Diffuse mesangial sclerosis" is_a: HP:0001966 ! Mesangial abnormality [Term] id: HP:0001969 name: Tubulointerstitial abnormality def: "An abnormality that involves the tubules and interstitial tissue of the kidney." [HPO:probinson] is_a: HP:0000091 ! Abnormality of the renal tubule [Term] id: HP:0001970 name: Tubulointerstitial nephritis def: "A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules." [HP:probinson] synonym: "Interstitial nephritis" EXACT [] synonym: "Nephritis, Tubulointerstitial" EXACT [] xref: UMLS:C0041349 "Nephritis, Tubulointerstitial" is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0001971 name: Hypersplenism def: "A malfunctioning of the `spleen` (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: MeSH:D006971 "Hypersplenism" xref: UMLS:C0020532 "Hypersplenism" is_a: HP:0001743 ! Abnormality of the spleen [Term] id: HP:0001972 name: Macrocytic anemia def: "A type of anemia characterized by increased size of erythrocytes with increased mean corpuscular volume (MCV) and increased mean corpuscular hemoglobin (MCH)." [HPO:probinson, pmid:19202968] comment: The causes of macrocytosis can be broadly classified as megaloblastic and nonmegaloblastic. Megaloblastic processes are characterized on the peripheral smear by macroovalocytes and hypersegmented neutrophils, which are absent in nonmegaloblastic macrocytic processes. Nonmegaloblastic processes have round macrocytes or macroreticulocytes. xref: MeSH:D000748 "Anemia, Macrocytic" xref: UMLS:C0002886 "Anemia, Macrocytic" is_a: HP:0010972 ! Anemia of inadequate production [Term] id: HP:0001973 name: Autoimmune thrombocytopenia alt_id: HP:0001936 alt_id: HP:0004806 alt_id: HP:0004829 def: "The presence of thrombocytopenia in combination with detection of antiplatelet antibodies." [DDD:wouwehand] comment: Autoimmune thrombocytopenia is causes by accelerated destruction of auto-antibody sensitized platelets in the reticular-endothelial\nsystem. Common etiologies include idiopathic thrombocytopenic purpura (ITP), Drug-induced autoimmune thrombocytopenia, and autoimmune thrombocytopenia following viral infection. synonym: "Idiopathic thrombocytopenia" EXACT [] synonym: "Idiopathic thrombocytopenic purpura" EXACT [] synonym: "Immune thrombocytopenia" EXACT [] xref: MeSH:D016553 "Purpura, Thrombocytopenic, Idiopathic" xref: UMLS:C0043117 "Purpura, Thrombocytopenic, Idiopathic" xref: UMLS:C0272286 "Immune thrombocytopenia" xref: UMLS:C0920163 "Idiopathic thrombocytopenia" is_a: HP:0001873 ! Thrombocytopenia is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0001974 name: Leukocytosis def: "An abnormal increase in the number of `leukocytes` (CL:0000738) in the `blood` (FMA:9670)." [HPO:probinson] xref: MeSH:D007964 "Leukocytosis" xref: UMLS:C0023518 "Leucocytosis, NOS" is_a: HP:0011893 ! Abnormal leukocyte count [Term] id: HP:0001975 name: Decreased platelet glycoprotein IIb-IIIa def: "Decreased cell membrane concentration of glycoprotein IIb-IIIa." [DDD:ouwehand] comment: The glycoprotein IIb-IIIa is an integrin complex found on platelets that acts a receptor for fibrinogen and aids in platelet activation. synonym: "Glanzmann thrombasthenia" RELATED [] synonym: "Reduced level of platelet glycoprotein IIb/IIIa complex" EXACT [] is_a: HP:0011878 ! Abnormal platelet membrane protein expression [Term] id: HP:0001976 name: Reduced antithrombin III activity def: "An `abnormality of coagulation` (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: "Antithrombin III deficiency" EXACT [] synonym: "Decreased antithrombin III" EXACT [] xref: MeSH:D020152 "Antithrombin III Deficiency" xref: UMLS:C0272375 "Antithrombin III Deficiency" is_a: HP:0003256 ! Abnormality of the coagulation cascade [Term] id: HP:0001977 name: Abnormal thrombosis def: "Venous or arterial thrombosis (formation of blood clots) of spontaneous nature and which cannot be fully explained by acquired risk (e.g. atherosclerosis)." [HPO:probinson] xref: UMLS:C0040053 "Thrombosis" is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001978 name: Extramedullary hematopoiesis alt_id: HP:0004847 def: "The process of hematopoiesis occurring outside of the bone marrow (in the liver, thymus, and spleen) in the postnatal organisms." [HPO:probinson] comment: During fetal life, the formation of cellular blood components occurs mainly in the liver, shifting to the bone marrow postnatally. SOme pathological conditions associated with a severe reduction of marrow hematopoiesis are associated with extramedullary hematopoiesis. synonym: "Extramedullary erythropoiesis" RELATED [] xref: MeSH:D006411 "Hematopoiesis, Extramedullary" xref: UMLS:C0018952 "Extramedullary Hematopoiesis" xref: UMLS:C1292120 "Extramedullary erythropoiesis" is_a: HP:0001871 ! Abnormality of blood and blood-forming tissues [Term] id: HP:0001980 name: Megaloblastic bone marrow def: "Abnormal increased number of megaloblasts in the bone marrow." [HPO:probinson] comment: A megaloblast is an abnormally large nucleated red blood cell found especially in people with pernicious anemia. Megaloblasts, like their normal counterparts, normoblasts, are immature red cell precursors in the bone marrow. Megaloblasts display both a larger size than normoblasts as well as a fine reticular nuclear structure. xref: UMLS:C0238801 "Megaloblastic bone marrow" is_a: HP:0012145 ! Abnormality of multiple cell lineages in the bone marrow [Term] id: HP:0001981 name: Schistocytosis def: "The presence of an abnormal number of fragmented red blood cells (schistocytes) in the blood." [HPO:probinson] synonym: "Schistocytes" EXACT [] xref: UMLS:C0221282 "SCHISTOCYTES" is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0001982 name: Sea-blue histiocytosis def: "An abnormality of `macrophages` (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 "'Sea blue' histiocytes" is_a: HP:0004311 ! Abnormality of macrophages [Term] id: HP:0001983 name: Reduced lymphocyte surface expression of CD43 (sialophorin) def: "A reduction in the expression of CD43 on the cell surface of `lymphocytes` (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 [] is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0001984 name: Intolerance to protein is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0001985 name: Hypoketotic hypoglycemia alt_id: HP:0005969 def: "A `decreased concentration` (PATO:0001163) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670) associated with a reduced concentration of ketone bodies." [HPO:probinson] comment: MERGED COMMENT:\nTARGET COMMENT: Normally, decreased glucose production leads to increased mitochondrial fatty acid beta-oxidation and the production of ketones. Thus, ketones provide an indication of whether the hypoglycemia is a result of inadequate production or overutilization of glucose (which tends to be associated with low plasma ketone levels). Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism.\n--------------------\nSOURCE COMMENT: A good starting point for evaluating hypoglycemia is to divide patients into ketotic or non-ketotic. Normal physiologic response to decreased glucose production is increased mitochondrial fatty acid beta-oxidation and the production of ketones. Ketones provide an indirect indication of whether hypoglycemia is the result of inadequate production or of over-utilization of glucose (insulin-induced over-utilization, associated with low urine or plasma ketones). The history of the relationship of the hypoglycemia to feeding is often helpful. Hypoketotic hypoglycemia developing within several minutes of feeding is typical of hyperinsulinism. Patients with defects in glycogen breakdown, gluconeogenesis, or fatty acid oxidation tend to tolerate short-term fasting much better. synonym: "Hypoglycemia, hypoketotic" EXACT [] xref: UMLS:C1856438 "Hypoglycemia, hypoketotic" is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001986 name: Hypertonic dehydration synonym: "Hyperosmolar dehydration" EXACT [] xref: UMLS:C1112601 "Hypertonic dehydration" is_a: HP:0001944 ! Dehydration [Term] id: HP:0001987 name: Hyperammonemia alt_id: HP:0008308 alt_id: HP:0008334 def: "An increased concentration of `ammonia` (CHEBI:16134) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: MeSH:D022124 "Hyperammonemia" is_a: HP:0002157 ! Azotemia [Term] id: HP:0001988 name: Recurrent hypoglycemia def: "`Recurrent` (PATO:0000427) episodes of `decreased concentration` (PATO:0001163) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670)." [HPO:gcarletti] synonym: "hypoglycaemia, recurrent" EXACT [HPO:skoehler] synonym: "hypoglycemia, recurrent" EXACT [HPO:skoehler] synonym: "Hypoglycemic episodes" EXACT [] synonym: "Recurrent hypoglycaemia" EXACT [] synonym: "Recurrent hypoglycemic episodes" EXACT [] xref: UMLS:C1846288 "Recurrent hypoglycemic episodes" is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001989 name: Fetal akinesia sequence def: "Decreases fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia)." [HPO:probinson] is_a: HP:0001558 ! Decreased fetal movement [Term] id: HP:0001991 name: Aplasia/Hypoplasia of the toes def: "Absence or hypoplasia of toes." [HPO:curators] synonym: "Aplastic/hypoplastic phalanges (feet)" EXACT [] is_a: HP:0001780 ! Abnormality of toe is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001992 name: Organic aciduria def: "Excretion of non-amino organic acids in urine." [HPO:probinson] xref: UMLS:C0241775 "Organic aciduria" is_a: HP:0012072 ! Aciduria [Term] id: HP:0001993 name: Ketoacidosis def: "Acidosis resulting from accumulation of ketone bodies." [HPO:probinson] comment: Ketoacidosis can result from diabetes, alcoholic ketoacidosis, prolonged fasting, as well as several hereditary diseases of metabolism. xref: UMLS:C0220982 "Ketoacidosis" is_a: HP:0001941 ! Acidosis is_a: HP:0001946 ! Ketosis [Term] id: HP:0001994 name: Renal Fanconi syndrome def: "An inability of the tubules in the kidney to reabsorb small molecules, causing increased urinary loss of electrolytes (sodium, potassium, bicarbonate), minerals, glucose, amino acids, and water." [HPO:probinson] synonym: "'de toni-fanconi-debre' syndrome" EXACT [] synonym: "Renal tubular fanconi syndrome" EXACT [] xref: UMLS:C0015624 "Renal Fanconi Syndrome" is_a: HP:0011038 ! Abnormality of renal resorption [Term] id: HP:0001995 name: Hyperchloremic acidosis xref: UMLS:C0085569 "Hyperchloraemic acidosis" is_a: HP:0001941 ! Acidosis [Term] id: HP:0001996 name: Chronic metabolic acidosis is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0001997 name: Gout 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: MeSH:D006073 "Gout" xref: UMLS:C0018099 "Gout" is_a: HP:0001369 ! Arthritis is_a: HP:0002149 ! Hyperuricemia [Term] id: HP:0001998 name: Neonatal hypoglycemia xref: UMLS:C0158986 "HYPOGLYCEMIA, INFANTILE" is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001999 name: Abnormal facial shape alt_id: HP:0002004 alt_id: HP:0002260 alt_id: HP:0004643 alt_id: HP:0004649 alt_id: HP:0004652 alt_id: HP:0004655 alt_id: HP:0004675 alt_id: HP:0005124 def: "An abnormal morphology (form) of the face or its components." [DDD:jclayton-smith] comment: This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. synonym: "Craniofacial abnormalities" RELATED [] synonym: "Craniofacial dysmorphism" EXACT [] synonym: "Distinctive facies" EXACT [] synonym: "Dysmorphic facial features" EXACT [] synonym: "Dysmorphic facies" EXACT [] synonym: "Facial dysmorphism" EXACT [] synonym: "Unusual facial appearance" EXACT [] synonym: "Unusual facies" EXACT [] xref: UMLS:C0266617 "Facial dysmorphism" is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002000 name: Short columella def: "Reduced distance from the anterior border of the naris to the subnasale." [pmid:19152422] comment: This is often accompanied by a Depressed nasal tip but this should be assessed and coded separately. The term Absent columella has been deleted because a columella is thought to always be present, except in Single naris and Proboscis. synonym: "Columella, short" EXACT [] xref: UMLS:C1857479 "Short columella" is_a: HP:0009929 ! Abnormality of the columella [Term] id: HP:0002002 name: Deep philtrum alt_id: HP:0000305 alt_id: HP:0004654 def: "Accentuated, prominent philtral ridges giving rise to an exaggerated groove in the midline between the nasal base and upper vermillion border." [pmid:19152422] comment: Some have used the term depressed philtrum, suggesting the presence of normal philtral ridges with a deeper groove, while admitting the difficulty in distinguishing this from prominent ridges with a normal philtral groove. We are unaware of a truly deepened philtral groove with normal height of the ridges. synonym: "Depressed philtrum" RELATED [] synonym: "Philtrum, deep" EXACT [] synonym: "Prominent philtrum" EXACT [] xref: UMLS:C1839797 "Deep philtrum" xref: UMLS:C1846177 "Prominent philtrum" is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0002003 name: Large forehead xref: UMLS:C1839783 "Large forehead" is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0002006 name: Facial cleft def: "A congenital malformation with a cleft (gap or opening) in the face." [HPO:probinson] xref: UMLS:C0685787 "Facial clefts" is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002007 name: Frontal bossing alt_id: HP:0000254 alt_id: HP:0000333 alt_id: HP:0001358 alt_id: HP:0001359 def: "Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline." [pmid:19125436] comment: This is not the same as prominent forehead. xref: UMLS:C0221354 "Frontal bossing" is_a: HP:0000290 ! Abnormality of the forehead is_a: HP:0011218 ! Abnormal shape of the frontal region [Term] id: HP:0002009 name: Potter facies def: "A facial appearance characteristic of a fetus or neonate due to oligohydramnios experienced in the womb, comprising ocular hypertelorism, low-set ears, receding chin, and flattening of the nose." [HPO:probinson] comment: Potter sequence is a sequence of events resulting from oligohydramnios due to any of a number of causes such as bilateral renal agenesis. Affected fetuses often have a characteristic facial appearance. xref: UMLS:C0266619 "Potter's facies" is_a: HP:0011334 ! Facial shape deformation [Term] id: HP:0002010 name: Narrow maxilla xref: UMLS:C1851835 "Narrow maxilla" is_a: HP:0000326 ! Abnormality of the maxilla [Term] id: HP:0002011 name: Abnormality of the central nervous system alt_id: HP:0002405 alt_id: HP:0002413 alt_id: HP:0002481 def: "An abnormality of the `central nervous system` (FMA:55675)." [HPO:curators] synonym: "Central nervous system disease" RELATED [] is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002012 name: Abnormality of the abdominal organs 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 [] is_a: HP:0001438 ! Abnormality of the abdomen [Term] id: HP:0002013 name: Vomiting def: "Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions." [HPO:probinson] synonym: "Emesis" EXACT [] xref: MeSH:D014839 "Vomiting" xref: UMLS:C0042963 "Vomiting" is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002014 name: Diarrhea def: "Abnormally increased frequency of loose or watery bowel movements." [HPO:probinson] xref: MeSH:D003967 "Diarrhea" xref: UMLS:C1963091 "Diarrhea" is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002015 name: Dysphagia alt_id: HP:0002569 def: "Difficulty in swallowing." [HPO:curators] synonym: "Deglutition disorder" RELATED [] synonym: "Poor swallowing" EXACT [] synonym: "Swallowing difficulties" EXACT [] synonym: "Swallowing difficulty" EXACT [] xref: UMLS:C0011168 "Dysphagia" 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 is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002018 name: Nausea def: "A sensation of unease in the stomach together with an urge to vomit." [HPO:probinson] xref: MeSH:D009325 "Nausea" xref: UMLS:C1963179 "Nausea" is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002019 name: Constipation alt_id: HP:0002241 alt_id: HP:0003786 def: "A chronic tendency to constipation." [HPO:probinson] synonym: "Chronic constipation" EXACT [] xref: MeSH:D003248 "Constipation" xref: UMLS:C0009806 "Constipation" is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002020 name: Gastroesophageal reflux alt_id: HP:0004793 def: "A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter." [HPO:probinson] synonym: "Gastroesophageal reflux disease" EXACT [] xref: MeSH:D005764 "Gastroesophageal Reflux" xref: UMLS:C0017168 "Gastroesophageal reflux disease" is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0002021 name: Pyloric stenosis def: "An abnormal narrowing of the `pylorus` (FMA:14581)." [HPO:probinson] comment: Pyloric stenosis occurs in the first few months of life. xref: MeSH:D011707 "Pyloric Stenosis" xref: UMLS:C0034194 "Pyloric Stenosis" is_a: HP:0004400 ! Abnormality of the pylorus [Term] id: HP:0002023 name: Anal atresia alt_id: HP:0001550 def: "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] synonym: "Imperforate anus" RELATED [] xref: UMLS:C0003466 "Anus, Imperforate" is_a: HP:0004378 ! Abnormality of the anus [Term] id: HP:0002024 name: Malabsorption alt_id: HP:0008270 def: "Impaired ability to absorb one or more nutrients from the intestine." [HPO:probinson] synonym: "Intestinal malabsorption" EXACT [] xref: UMLS:C1963165 "Malabsorption" is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002025 name: Anal stenosis def: "Abnormal narrowing of the anal opening." [HPO:curators] xref: UMLS:C0262374 "Anal stenosis" is_a: HP:0004378 ! Abnormality of the anus [Term] id: HP:0002027 name: Abdominal pain def: "Pain perceived to originate in the abdomen." [HPO:probinson] xref: MeSH:D015746 "Abdominal Pain" xref: UMLS:C0000737 "Abdominal Pain" is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002028 name: Chronic diarrhea def: "The presence of chronic `diarrhea` (HP:0002014), which is usually taken to mean diarrhea that has persisted for over 4 weeks." [HPO:probinson] xref: UMLS:C0401151 "Chronic diarrhea" is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002031 name: Abnormality of the esophagus def: "An abnormality of the `esophagus` (FMA:7131)." [HPO:probinson] is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0002032 name: Esophageal atresia def: "A developmental defect resulting in complete obliteration of the lumen of the esophagus such that the esophagus ends in a blind pouch rather than connecting to the stomach." [HPO:curators] xref: MeSH:D004933 "Esophageal Atresia" xref: UMLS:C0014850 "Esophageal Atresia" is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0002589 ! Gastrointestinal atresia [Term] id: HP:0002033 name: Poor suck def: "An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed." [HPO:curators] synonym: "Poor sucking" EXACT [HPO:skoehler] xref: UMLS:C1837142 "Poor suck" is_a: HP:0008872 ! Feeding difficulties in infancy [Term] id: HP:0002034 name: Abnormality of the rectum def: "An abnormaltiy of the `rectum` (FMA:14544), the final segment of the large intestine that stores solid waste until it passes through the anus." [HPO:probinson] is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0002035 name: Rectal prolapse def: "Protrusion of the rectal mucous membrane through the anus." [HPO:probinson] xref: MeSH:D012005 "Rectal Prolapse" xref: UMLS:C1868686 "RECTAL PROLAPSE" is_a: HP:0002034 ! Abnormality of the rectum [Term] id: HP:0002036 name: Hiatus hernia def: "The presence of a `hernia` (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: MeSH:D006551 "Hernia, Hiatal" xref: UMLS:C0019291 "Hiatus hernia NOS" is_a: HP:0002577 ! Abnormality of the stomach created_by: peter creation_date: 2008-02-20T11:28:00Z [Term] id: HP:0002037 name: Inflammation of the large intestine synonym: "Inflammatory bowel disease" RELATED [] xref: UMLS:C0021390 "Inflammatory bowel disease" is_a: HP:0002242 ! Abnormality of the intestine is_a: HP:0004386 ! Gastrointestinal inflammation [Term] id: HP:0002038 name: Protein avoidance xref: UMLS:C1839531 "Protein avoidance" is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002039 name: Anorexia def: "A lack or loss of appetite for food (as a medical condition)." [HPO:probinson] comment: Note that this term does not refer to the condition anorexia nervosa (A disorder characterized by an obsessive desire to lose weight by refusing to eat). xref: MeSH:D000855 "Anorexia" xref: UMLS:C0426579 "anorexia" is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0002040 name: Esophageal varices def: "Extreme dilation of the submucusoal veins in the lower portion of the esophagus." [HPO:probinson] comment: Esophageal varices are most often a consequence of portal hypertension. xref: UMLS:C0014867 "Esophageal Varices" is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0002041 name: Intractable diarrhea is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002043 name: Esophageal stricture def: "A pathological narrowing of the esophagus that is caused by the development of a ring of scar tissue that constricts the esophageal lumen." [HPO:probinson] comment: Gastroesophageal reflux is a common cause of esophageal stricture. xref: UMLS:C0014866 "Esophageal Stenosis" is_a: HP:0010450 ! Esophageal stenosis [Term] id: HP:0002044 name: Zollinger-Ellison syndrome def: "A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration." [HPO:probinson] comment: Zollinger-Ellison syndrome may occur as a manifestation of multiple endocrine neoplasia type 1. xref: MeSH:D015043 "Zollinger-Ellison Syndrome" xref: UMLS:C0043515 "Zollinger-Ellison syndrome" is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0002045 name: Hypothermia def: "Reduced body temperature due to failed thermoregulation." [HPO:sdoelken] comment: A condition in which core temperature drops below that required for normal metabolism and body functions which is defined as 35.0 °C (95.0 °F). xref: MeSH:D007035 "Hypothermia" xref: UMLS:C2364050 "Hypothermia" is_a: HP:0002270 ! Abnormality of the autonomic nervous system is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002046 name: Heat intolerance def: "The inability to maintain a comfortably body temperature in warm or hot weather." [HPO:probinson] comment: Heat intolerance tends to produce a feeling of being overheated and profuse diaphoresis (sweating). Many, but not all, cases of heat intolerance are related to thyrotoxicosis. synonym: "Intolerance to heat and fevers" EXACT [] xref: UMLS:C0231274 "Heat intolerance" is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002047 name: Malignant hyperthermia alt_id: HP:0004896 def: "Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine." [HPO:curators] synonym: "Malignant hyperthermia with anesthesia" EXACT [] xref: MeSH:D008305 "Malignant hyperthermia" xref: UMLS:C0024591 "Malignant Hyperthermia" is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002048 name: Renal cortical atrophy def: "`Atrophy` (MPATH:127) of the `cortex of the kidney` (FMA:15581)." [HPO:probinson] is_a: HP:0011035 ! Abnormality of the renal cortex [Term] id: HP:0002049 name: Proximal renal tubular acidosis def: "A type of renal tubular acidosis characterized by a failure of the proximal tubular cells to reabsorb bicarbonate, leading to urinary bicarbonate wasting and subsequent acidemia." [HPO:probinson] synonym: "Proximal tubular acidosis" EXACT [] synonym: "Renal tubular acidosis, proximal" EXACT [] synonym: "Renal tubular acidosis, type II" EXACT [] is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0002050 name: Macroorchidism, postpubertal xref: UMLS:C1263023 "Macroorchidism" is_a: HP:0000053 ! Macroorchidism [Term] id: HP:0002054 name: Heavy supraorbital ridges xref: UMLS:C1845107 "Heavy supraorbital ridges" is_a: HP:0000336 ! Prominent supraorbital ridges [Term] id: HP:0002055 name: Curved linear dimple below the lower lip is_a: HP:0000178 ! Abnormality of lower lip [Term] id: HP:0002056 name: Abnormality of the glabella def: "An abnormality of the `glabella` (FMA:52851)." [HPO:probinson] synonym: "Glabellar abnormality" EXACT [] is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0002057 name: Prominent glabella def: "Forward protrusion of the `glabella` (FMA:52851)." [HPO:probinson, pmid:19125436] comment: The glabella is the area of the forehead in the midline between the supraorbital ridges, just above the nasal root. xref: UMLS:C1860247 "Prominent glabella" is_a: HP:0002056 ! Abnormality of the glabella [Term] id: HP:0002058 name: Myopathic facies alt_id: HP:0004647 def: "A facial appearance characteristic of myopathic conditions. The face appears expressionless with sunken cheeks, bilateral ptosis, and inability to elevate the corners of the mouth, due to muscle weakness." [HPO:curators] synonym: "Myopathic face" EXACT [] xref: UMLS:C0332615 "Myopathic facies" is_a: HP:0004673 ! Decreased facial expression is_a: HP:0010628 ! Facial palsy [Term] id: HP:0002059 name: Cerebral atrophy alt_id: HP:0002422 alt_id: HP:0006890 def: "Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum." [HPO:sdoelken] comment: Atrophy may be progressive over time. synonym: "Supratentorial atrophy" RELATED [] is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0002060 name: Abnormality of the cerebrum def: "An abnormality of the `telencephalon` (FMA:62000), which is also known as the cerebrum." [HPO:probinson] synonym: "Abnormality of the telencephalon" EXACT [] is_a: HP:0100547 ! Abnormality of the forebrain [Term] id: HP:0002061 name: Lower limb spasticity def: "A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes in the lower limbs." [HPO:probinson] xref: UMLS:C1271100 "Lower limb spasticity" is_a: HP:0001257 ! Spasticity [Term] id: HP:0002062 name: Abnormality of the pyramidal tracts 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 [] is_a: HP:0007319 ! Morphological abnormality of the central nervous system [Term] id: HP:0002063 name: Rigidity def: "Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity." [HPO:probinson] comment: Rigidity is often a manifestation of basal ganglia diseases. synonym: "Muscle rigidity" EXACT [] xref: MeSH:D009127 "Muscle Rigidity" xref: UMLS:C0700109 "rigidity" is_a: HP:0011442 ! Abnormality of central motor function [Term] id: HP:0002064 name: Spastic gait xref: UMLS:C0231687 "Spastic gait" is_a: HP:0001257 ! Spasticity [Term] id: HP:0002066 name: Gait ataxia alt_id: HP:0002379 def: "A type of `ataxia` (HP:0001251) characterized by the impairment of the ability to coordinate the movements required for normal walking." [HPO:probinson] synonym: "Ataxic gait" EXACT [] xref: MeSH:D020234 "Gait Ataxia" xref: UMLS:C0751837 "Gait Ataxia" is_a: HP:0001251 ! Ataxia is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002067 name: Bradykinesia def: "Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement)." [HPO:probinson] xref: UMLS:C0233565 "Bradykinesia" is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0002068 name: Neuromuscular dysphagia is_a: HP:0002015 ! Dysphagia [Term] id: HP:0002069 name: Generalized tonic-clonic seizures alt_id: HP:0001306 alt_id: HP:0002407 alt_id: HP:0007252 def: "Generalized tonic-clonic seizures are `generalized seizures` (HP:0002197) with bilateral symmetrical tonic contraction then bilateral clonic contractions of somatic muscles usually associated with autonomic phenomena." [HPO:curators] comment: In a generalized tonic-clonic seizure, the patient suddenly loses conciousness, the eyes roll back, and the entire body musculature undergoes tonic contractions. In the clonic phase of the seizure, there are rhythmic contractions of the musculature alternating with relaxation of all muscle groups. Loss of sphincter control during the seizure is common. This form of seizure was formerly commonly called grand mal seizure. synonym: "Generalised tonic-clonic seizures" EXACT [] synonym: "Generalized clonic-tonic seizures" EXACT [] synonym: "Generalized tonic clonic seizures" EXACT [] synonym: "Grand mal seizures" EXACT [] synonym: "Seizures, generalized tonic-clonic" EXACT [] synonym: "Seizures, generalized, tonic-clonic" EXACT [] synonym: "Seizures, tonic-clonic" EXACT [] xref: UMLS:C0494475 "Generalised tonic-clonic seizures" is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0002070 name: Limb ataxia 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 "Ataxia, Limb" is_a: HP:0001251 ! Ataxia [Term] id: HP:0002071 name: Abnormality of extrapyramidal motor function alt_id: HP:0006810 alt_id: HP:0007113 def: "A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless)." [HPO:probinson] comment: The basal ganglia, paired subcortical masses of grey matter that form distinct nuclei, subserve motor functions that are distinct from those of the pyramidal (i.e., corticospinal) tract. This is a bundled term that is kept for historical reasons, but it is preferable to annotate the precise abnormalities observed. synonym: "Extrapyramidal dysfunction" EXACT [] synonym: "Extrapyramidal signs" EXACT [] synonym: "Extrapyramidal symptoms" EXACT [] synonym: "Extrapyramidal syndrome" EXACT [] synonym: "Extrapyramidal tract signs" EXACT [] xref: UMLS:C0234133 "Extrapyramidal signs" is_a: HP:0011442 ! Abnormality of central motor function [Term] id: HP:0002072 name: Chorea alt_id: HP:0002397 def: "Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators] synonym: "Choreatic disease" RELATED [] synonym: "Choreic movements" EXACT [] synonym: "Choreiform movements" EXACT [] xref: MeSH:D002819 "Chorea" xref: UMLS:C0008489 "choreiform movements" is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002073 name: Progressive cerebellar ataxia alt_id: HP:0001329 alt_id: HP:0002496 alt_id: HP:0007331 synonym: "Cerebellar ataxia, progressive" EXACT [] synonym: "Progressive ataxia" EXACT [] xref: UMLS:C0393525 "Progressive cerebellar ataxia" xref: UMLS:C1859521 "Ataxia, progressive" is_a: HP:0001251 ! Ataxia [Term] id: HP:0002074 name: Increased neuronal autofluorescent lipopigment def: "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the neuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, pmid:11406682] synonym: "Neuronal lipopigments" RELATED [] is_a: HP:0011813 ! Increased cerebral lipofuscin [Term] id: HP:0002075 name: Dysdiadochokinesis alt_id: HP:0002426 def: "A type of `ataxia` (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 "DYSDIADOCHOKINESIA" is_a: HP:0001251 ! Ataxia [Term] id: HP:0002076 name: Migraine alt_id: HP:0007194 def: "Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms." [HPO:probinson, pmid:15304572] synonym: "Intermittent migraine headaches" EXACT [] synonym: "Migraine headache" EXACT [] synonym: "Migraine headaches" EXACT [] xref: MeSH:D008881 "Migraine Disorders" xref: UMLS:C0149931 "Migraine" is_a: HP:0002315 ! Headache [Term] id: HP:0002077 name: Migraine with aura def: "A type of `migraine` (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: MeSH:D020325 "Migraine With Aura" is_a: HP:0002076 ! Migraine [Term] id: HP:0002078 name: Truncal ataxia alt_id: HP:0007014 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:C1836397 "Trunk ataxia" is_a: HP:0001251 ! Ataxia [Term] id: HP:0002079 name: Hypoplasia of the corpus callosum alt_id: HP:0007026 def: "Underdevelopment of the corpus callosum." [HPO:probinson] synonym: "Corpus callosum hypoplasia" EXACT [] synonym: "Hypoplasia of corpus callosum" EXACT [] synonym: "Hypoplastic corpus callosum" EXACT [] synonym: "Small corpus callosum" EXACT [] xref: UMLS:C1846150 "Small corpus callosum" is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0002080 name: Intention tremor 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:probinson] xref: UMLS:C0234376 "Intention tremor" is_a: HP:0001337 ! Tremor [Term] id: HP:0002083 name: Migraine without aura def: "Repeated headache attacks lasting 4-72 h fulfilling at least two of the following criteria: 1) unilateral location, 2) pulsating quality, 3) moderate or severe pain intensity, and 4) aggravation by or causing avoidance of routine physical activity such as climbing stairs. Headache attacks are commonly accompanied by nausea, vomiting, photophobia, or phonophobia." [HPO:probinson, pmid:15304572] comment: The definition of this term is based on the definition in the International Classification of Headache Disorders by the International Headache Society (pmid:15304572), which additionally stipulate that such headaches must have occurred at least five times and not other secondary cause must be apparent in order to make the diagnosis. xref: MeSH:D020326 "Migraine Without Aura" is_a: HP:0002076 ! Migraine [Term] id: HP:0002084 name: Encephalocele alt_id: HP:0002736 alt_id: HP:0100664 def: "A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull." [HPO:probinson] comment: A congenital gap in the skull that usually results in a protrusion of brain material. synonym: "Bifid skull" EXACT [] synonym: "Cranium bifidum" EXACT [] xref: MeSH:D004677 "Encephalocele" xref: UMLS:C0014065 "Encephalocele" is_a: HP:0007319 ! Morphological abnormality of the central nervous system is_a: HP:0011815 ! Cephalocele [Term] id: HP:0002085 name: Occipital encephalocele alt_id: HP:0007051 alt_id: HP:0007357 def: "A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp." [DDD:awilkie, HPO:probinson] synonym: "Occipital meningoencephalocele" EXACT [] synonym: "Posterior encephalocele" EXACT [] xref: UMLS:C0014067 "Occipital Encephalocele" is_a: HP:0002084 ! Encephalocele [Term] id: HP:0002086 name: Abnormality of the respiratory system def: "An abnormality of the `respiratory system` (FMA:7158), which include the airways, lungs, and the respiratory muscles." [HPO:probinson] synonym: "Respiratory abnormality" EXACT [] xref: UMLS:C1260922 "RESPIRATORY ABNORMALITY" is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002087 name: Abnormality of the upper respiratory tract def: "An abnormality of the `upper respiratory tract` (FMA:45661)." [HPO:probinson] is_a: HP:0012252 ! Abnormal respiratory system morphology [Term] id: HP:0002088 name: Abnormality of the lung def: "An abnormality of the `lung` (FMA:7195)." [HPO:probinson] synonym: "Abnormality of the lungs" EXACT [] synonym: "Lung disease" RELATED [] is_a: HP:0012252 ! Abnormal respiratory system morphology [Term] id: HP:0002089 name: Pulmonary hypoplasia synonym: "Hypoplastic lung" EXACT [] synonym: "Hypoplastic lungs" EXACT [] synonym: "Lung hypoplasia" EXACT [] xref: UMLS:C0265783 "Pulmonary hypoplasia" is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0002090 name: Pneumonia def: "Inflammation of any part of the lung parenchyma." [HPO:probinson] xref: MeSH:D011014 "Pneumonia" xref: UMLS:C0032285 "Pneumonia" is_a: HP:0011947 ! Respiratory tract infection [Term] id: HP:0002091 name: Restrictive lung disease xref: UMLS:C0085581 "Restrictive lung disease" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002092 name: Pulmonary hypertension alt_id: HP:0006546 def: "Pulmonary hypertension is defined as a mean pulmonary artery pressure greater than 25 mm Hg during rest (normal level, 10 mm Hg) or greater than 30 mm Hg during exercise (normal level, 15 mm Hg), as determined with right heart catheterization." [HPO:probinson] comment: Pulmonary hypertension can be secondary to known cardiac, pulmonary, or hepatic disease. If no cause is identifiable, the term primary pulmonary hypertension is used. synonym: "Pulmonary artery hypertension" EXACT [] xref: MeSH:D006976 "Hypertension, Pulmonary" xref: UMLS:C0020542 "Pulmonary Hypertension" is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0004890 ! Elevated pulmonary artery pressure [Term] id: HP:0002093 name: Respiratory insufficiency alt_id: HP:0006542 def: "Failure to adequately provide oxygen to cells of the body and to remove excess carbon dioxide." [HPO:probinson, MeSH:D012131] synonym: "Respiratory failure" EXACT [] synonym: "Respiratory impairment" EXACT [] synonym: "Respiratory insufficiency/failure" EXACT [] xref: MeSH:D012131 "Respiratory Insufficiency" xref: UMLS:C0035229 "Respiratory Insufficiency" is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002094 name: Dyspnea def: "Difficult or labored breathing." [HPO:probinson] xref: MeSH:D004417 "Dyspnea" xref: UMLS:C2024878 "dyspnea" is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002097 name: Emphysema alt_id: HP:0006534 synonym: "Pulmonary emphysema" EXACT [] xref: MeSH:D004646 "Emphysema" xref: UMLS:C0034067 "Emphysema" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002098 name: Respiratory distress xref: UMLS:C0476273 "Respiratory distress" is_a: HP:0002094 ! Dyspnea [Term] id: HP:0002099 name: Asthma alt_id: HP:0002112 def: "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators] synonym: "Bronchial asthma" EXACT [] xref: MeSH:D001249 "Asthma" xref: UMLS:C0004096 "Asthma" is_a: HP:0002088 ! Abnormality of the lung is_a: HP:0100326 ! Immunologic hypersensitivity [Term] id: HP:0002100 name: Recurrent aspiration pneumonia alt_id: HP:0002106 def: "Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia." [HPO:probinson] xref: MeSH:D011015 "Pneumonia, Aspiration" xref: UMLS:C0747651 "Recurrent aspiration pneumonia" is_a: HP:0011951 ! Aspiration pneumonia [Term] id: HP:0002101 name: Abnormal lung lobation alt_id: HP:0009753 def: "Defects in the formation of pulmonary lobules." [HPO:curators] synonym: "Defective lung lobation" EXACT [] xref: UMLS:C0685695 "Abnormal lung lobation" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002102 name: Pleuritis def: "Inflammation of the pleura." [HPO:sdoelken] synonym: "Pleurisy" EXACT [HPO:sdoelken] xref: UMLS:C0032231 "Pleurisy" is_a: HP:0002103 ! Abnormality of the pleura [Term] id: HP:0002103 name: Abnormality of the pleura def: "An abnormality of the `pulmonary pleura` (FMA:9734), the thin, transparent membrane which covers the lungs and lines the inside of the chest walls." [HPO:probinson] is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002104 name: Apnea alt_id: HP:0005936 alt_id: HP:0005958 def: "Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event." [HPO:curators] synonym: "Absence of spontaneous respiration" EXACT [] synonym: "Apneic episodes" EXACT [] synonym: "Apnoea" EXACT [] xref: MeSH:D001049 "Apnea" xref: UMLS:C1963065 "Apnea" is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002105 name: Hemoptysis def: "Coughing up (expectoration) of blood or blood-streaked sputum from the larynx, trachea, bronchi, or lungs." [HPO:probinson] xref: MeSH:D006469 "Hemoptysis" xref: UMLS:C0019079 "Hemoptysis" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002107 name: Pneumothorax def: "Accumulation of air in the pleural cavity leading to a partially or completely collapsed lung." [HPO:probinson] xref: MeSH:D011030 "Pneumothorax" xref: UMLS:C1963215 "Pneumothorax" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002108 name: Spontaneous pneumothorax def: "Pneumothorax occurring without traumatic injury to the chest or lung." [HPO:probinson] xref: UMLS:C0149781 "Spontaneous pneumothorax" is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0002109 name: Abnormality of the bronchi def: "An abnormality of the `set of bronchi`(FMA:70774)." [HPO:probinson] synonym: "Bronchial disease" RELATED [] is_a: HP:0005607 ! Abnormality of the tracheobronchial system [Term] id: HP:0002110 name: Bronchiectasis def: "Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways." [HPO:probinson] xref: MeSH:D001987 "Bronchiectasis" xref: UMLS:C0006267 "Bronchiectasis" is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0002111 name: Restrictive respiratory insufficiency synonym: "Restrictive deficit on pulmonary function tests" EXACT [] synonym: "Restrictive respiratory disease" EXACT [] synonym: "Restrictive respiratory syndrome" EXACT [] xref: UMLS:C1609528 "Restrictive respiratory insufficiency" is_a: HP:0002091 ! Restrictive lung disease [Term] id: HP:0002113 name: Pulmonary infiltrates synonym: "Pulmonic infiltration" EXACT [] xref: UMLS:C0235896 "Pulmonary infiltrates" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002115 name: Sparse or absent hair xref: UMLS:C0574763 "absent hair" is_a: HP:0001595 ! Abnormality of the hair [Term] id: HP:0002118 name: Abnormality of the cerebral ventricles 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). is_a: HP:0007319 ! Morphological abnormality of the central nervous system [Term] id: HP:0002119 name: Ventriculomegaly alt_id: HP:0002447 alt_id: HP:0005691 alt_id: HP:0007071 def: "An increase in size of the ventricular system of the brain." [HPO:probinson] synonym: "Cerebral ventricular dilatation" EXACT [] synonym: "Dilated cerebral ventricle" EXACT [] synonym: "Dilated cerebral ventricles" EXACT [] synonym: "Dilated ventricles" EXACT [] synonym: "Enlarged cerebral ventricles" EXACT [] synonym: "Enlarged ventricles" EXACT [] synonym: "Enlarged ventricular system" EXACT [] synonym: "Large cerebral ventricles and cisternae" EXACT [] synonym: "Ventricular dilatation" EXACT [] xref: UMLS:C1531647 "Ventriculomegaly" is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002120 name: Cerebral cortical atrophy alt_id: HP:0006823 alt_id: HP:0006835 def: "Atrophy of the cortex of the cerebrum." [HPO:probinson] comment: Cortical atrophy is a finding that can be demonstrated by computer tomography or magnetic resonance imaging. synonym: "Cerebral cortex atrophy" EXACT [] synonym: "Cortical atrophy" EXACT [] xref: UMLS:C1861441 "Cerebral cortical atrophy" is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0002121 name: Absence seizures alt_id: HP:0007143 def: "Recurrent absence seizures are `generalized seizures` (HP:0002197) and are characterized by a loss of consciousness, thus, are a form of `dialeptic seizures` (HP:0011146)." [HPO:probinson] xref: UMLS:C0014553 "Absence Seizures" is_a: HP:0002197 ! Generalized seizures is_a: HP:0011146 ! Dialeptic seizures [Term] id: HP:0002123 name: Generalized myoclonic seizures alt_id: HP:0006869 alt_id: HP:0006902 alt_id: HP:0007075 alt_id: HP:0007202 alt_id: HP:0007284 alt_id: HP:0007294 def: "Seizures with sudden, brief (< 100 msec) involuntary single or multiple contraction(s) of muscles(s) or muscle groups of variable topography (axial, proximal limb, distal)." [HPO:jalbers] 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. synonym: "Myoclonic epilepsy, progressive" RELATED [] synonym: "Myoclonic seizures" BROAD [] synonym: "Myoclonus seizures" EXACT [] xref: UMLS:C0014550 "Myoclonic seizures" is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0002126 name: Polymicrogyria def: "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] xref: UMLS:C0266464 "Polymicrogyria" is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0002127 name: Upper motor neuron abnormality synonym: "Upper motor neuron disorder" EXACT [] synonym: "Upper motor neuron signs" EXACT [] xref: UMLS:C0749870 "Upper motor neuron signs" is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0002131 name: Episodic ataxia def: "Periodic spells of incoordination and imbalance." [HPO:probinson] is_a: HP:0001251 ! Ataxia [Term] id: HP:0002132 name: Porencephaly def: "A disorder of the brain in which a cyst or cavity filled with cerebrospinal fluid develops in the cerebral hemisphere." [HPO:probinson] comment: Porencephaly is usually the result of damage from stroke or infection after birth, but may also be the result of a developmental defect. xref: UMLS:C1867983 "Porencephaly" is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002133 name: Status epilepticus def: "Seizures lasting for more than 30 minutes or longer or multiple seizures repeated frequently without regaining consciousness between seizures." [HPO:jalbers] xref: MeSH:D013226 "Status Epilepticus" xref: UMLS:C0038220 "Status Epilepticus" is_a: HP:0001250 ! Seizures [Term] id: HP:0002134 name: Abnormality of the basal ganglia alt_id: HP:0006952 alt_id: HP:0007257 def: "Abnormality of the `basal ganglia` (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: "Basal ganglia disease" EXACT [] is_a: HP:0010993 ! Abnormality of the cerebral subcortex [Term] id: HP:0002135 name: Basal ganglia calcification 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:C1389280 "Basal ganglia calcification" is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0002514 ! Cerebral calcification [Term] id: HP:0002136 name: Broad-based gait def: "An abnormal gait pattern in which persons stand and walk with their feet spaced widely apart. This is often a component of cerebellar ataxia." [HPO:curators] synonym: "Broad based gait" EXACT [] synonym: "Wide based gait" EXACT [] synonym: "Wide-based gait" EXACT [] xref: UMLS:C1836917 "Broad-based gait" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002138 name: Subarachnoid hemorrhage def: "`Hemorrhage` (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: MeSH:D013345 "Subarachnoid Hemorrhage" xref: UMLS:C0038525 "SUBARACHNOID HAEMORRHAGE" is_a: HP:0002170 ! Intracranial hemorrhage [Term] id: HP:0002139 name: Arrhinencephaly xref: UMLS:C0078982 "Arhinencephaly" is_a: HP:0002323 ! Anencephaly [Term] id: HP:0002140 name: Ischemic stroke xref: UMLS:C0948008 "Ischaemic stroke NOS" is_a: HP:0001297 ! Stroke is_a: HP:0002637 ! Cerebral ischemia [Term] id: HP:0002141 name: Gait imbalance alt_id: HP:0100683 synonym: "Abnormality of balance" EXACT [] synonym: "Abnormality of equilibrium" EXACT [] xref: UMLS:C1836150 "Gait imbalance" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002143 name: Abnormality of the spinal cord def: "An abnormality of the spinal cord (myelon)." [HPO:probinson] synonym: "Spinal cord disease" RELATED [] is_a: HP:0007319 ! Morphological abnormality of the central nervous system [Term] id: HP:0002144 name: Tethered cord def: "During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord." [HPO:curators] xref: UMLS:C1850322 "Tethered cord" is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002145 name: Frontotemporal dementia def: "A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight." [HPO:probinson] xref: MeSH:D057180 "Frontotemporal Dementia" xref: UMLS:C0338451 "Frontotemporal dementia" is_a: HP:0000726 ! Dementia [Term] id: HP:0002148 name: Hypophosphatemia def: "An abnormally decreased `phosphate` (CHEBI:18367) concentration in the `blood` (FMA:9670)." [HPO:gcarletti] synonym: "Hypophosphataemia" EXACT [] xref: MeSH:D017674 "Hypophosphatemia" xref: UMLS:C0085682 "Hypophosphatemia" is_a: HP:0100529 ! Abnormality of phosphate homeostasis [Term] id: HP:0002149 name: Hyperuricemia def: "An abnormally high level of `uric acid` (CHEBI:27226) in the `blood` (FMA:9670)." [HPO:probinson] synonym: "Hyperuricaemia" EXACT [] xref: MeSH:D033461 "Hyperuricemia" xref: UMLS:C0740394 "HYPERURICAEMIA" is_a: HP:0004368 ! Increased purine levels [Term] id: HP:0002150 name: Hypercalciuria synonym: "Hypercalcinuria" EXACT [] xref: MeSH:D053565 "Hypercalciuria" xref: UMLS:C0020438 "Hypercalciuria" is_a: HP:0004363 ! Abnormality of calcium homeostasis is_a: HP:0011280 ! Abnormality of urine calcium concentration [Term] id: HP:0002151 name: Increased serum lactate alt_id: HP:0003638 def: "Abnormally increased level of blood `lactate` (CHEBI:24996) (2-hydroxypropanoic acid). Lactate is produced from pyruvate by lactate dehydrogenase during normal metabolism." [HPO:probinson] synonym: "Increased blood lactate" EXACT [] xref: UMLS:C1836440 "Increased serum lactate" is_a: HP:0001941 ! Acidosis [Term] id: HP:0002152 name: Hyperproteinemia def: "An `increased concentration` (PATO:0001162) of `proteins` (CHEBI:36080) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C0267988 "HYPERPROTEINAEMIA" is_a: HP:0010876 ! Abnormality of circulating protein level [Term] id: HP:0002153 name: Hyperkalemia def: "An abnormally increased `potassium` (CHEBI:29103) concentration in the blood." [HPO:probinson] xref: MeSH:D006947 "Hyperkalemia" xref: UMLS:C0020461 "HYPERKALAEMIA" is_a: HP:0011042 ! Abnormality of potassium homeostasis [Term] id: HP:0002154 name: Hyperglycinemia 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 "Hyperglycinaemia" is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010895 ! Abnormality of glycine metabolism [Term] id: HP:0002155 name: Hypertriglyceridemia alt_id: HP:0003082 alt_id: HP:0008174 alt_id: HP:0008332 def: "An abnormal increase in the level of `triglycerides` (CHEBI:17855) in the `blood` (FMA:9670)." [HPO:probinson] synonym: "Increased plasma triglycerides" EXACT [] synonym: "Increased serum triglycerides" EXACT [] synonym: "Increased triglycerides" EXACT [] xref: MeSH:D015228 "Hypertriglyceridemia" xref: UMLS:C0858041 "Increased plasma triglycerides" is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0002156 name: Homocystinuria 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: MeSH:D006712 "Homocystinuria" xref: UMLS:C1439329 "HOMOCYSTINURIA" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010919 ! Abnormality of homocysteine metabolism [Term] id: HP:0002157 name: Azotemia 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. synonym: "Azotaemia" EXACT [] xref: MeSH:D053099 "Azotemia" xref: UMLS:C0554309 "Azotaemia" is_a: HP:0004364 ! Abnormality of nitrogen compound homeostasis [Term] id: HP:0002159 name: Heparan sulfate excretion in urine def: "An `increased concentration` (PATO:0001162) of `heparan sulfates` (CHEBI:35721) in the `urine` (FMA:12274)." [HPO:probinson] is_a: HP:0008155 ! Mucopolysacchariduria [Term] id: HP:0002160 name: Hyperhomocystinemia 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 "Homocystinaemia" is_a: HP:0010919 ! Abnormality of homocysteine metabolism [Term] id: HP:0002161 name: Hyperlysinemia 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: MeSH:D020167 "Hyperlysinemias" xref: UMLS:C0268553 "Hyperlysinaemia" is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010908 ! Abnormality of lysine metabolism [Term] id: HP:0002162 name: Low posterior hairline def: "Hair on the neck extends more inferiorly than usual." [pmid:19125436] comment: This feature is often seen in later childhood, as the neck lengthens, in an individual who was born with redundant nuchal skin, which should be assessed and coded separately. synonym: "Low posterior hair line" EXACT [] xref: UMLS:C1865008 "Low posterior hairline" is_a: HP:0000464 ! Abnormality of the neck is_a: HP:0009553 ! Abnormality of the hairline [Term] id: HP:0002164 name: Nail dysplasia alt_id: HP:0001793 alt_id: HP:0001794 alt_id: HP:0001797 alt_id: HP:0008387 alt_id: HP:0008403 alt_id: HP:0008409 alt_id: HP:0008412 def: "The presence of `developmental dysplasia` (MPATH:64) of the `nail` (FMA:54326)." [HPO:probinson] synonym: "Dysplastic nails" EXACT [] synonym: "Onychodysplasia" EXACT [] xref: UMLS:C1834405 "NAIL DYSPLASIA" is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0002165 name: Pterygium formation (nails) is_a: HP:0001597 ! Abnormality of the nail [Term] id: HP:0002166 name: Impaired vibration sensation in the lower limbs def: "A decrease in the ability to perceive vibration in the legs." [HPO:curators] synonym: "Decreased lower limb vibratory sense" EXACT [] synonym: "Decreased vibratory sense in lower limbs" EXACT [] synonym: "Decreased vibratory sense in the lower extremities" EXACT [] synonym: "Decreased vibratory sense in the lower limbs" EXACT [] synonym: "Diminished vibratory sensation in the legs" EXACT [] synonym: "Distal sensory loss, especially vibratory sense" EXACT [] synonym: "Distal vibratory impairment of the lower limbs" EXACT [] is_a: HP:0002495 ! Impaired vibratory sensation [Term] id: HP:0002167 name: Neurological speech impairment synonym: "Speech disorder" EXACT [] synonym: "Speech impairment" EXACT [] synonym: "Speech impediment" EXACT [] xref: UMLS:C0037822 "SPEECH DISORDER" is_a: HP:0011446 ! Abnormality of higher mental function [Term] id: HP:0002168 name: Scanning speech xref: UMLS:C0278184 "Scanning speech" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002169 name: Clonus def: "A series of rhythmic and involuntary muscle contractions (at a frequency of about 5 to 7 Hz) that occur in response to an abruptly applied and sustained stretch." [HPO:probinson] comment: Clonus is a manifestation of spasticity that can occur with lesions of the corticospinal tract. Only sustained clonus (5 beats or more) is considered abnormal. xref: UMLS:C0009024 "Clonus" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002170 name: Intracranial hemorrhage def: "`Hemorrhage` (MPATH:119) occurring within the `skull` (FMA:46565)." [HPO:gcarletti] xref: MeSH:D020300 "Intracranial hemorrhage" xref: UMLS:C0151699 "Intracranial hemorrhage" is_a: HP:0011029 ! Internal hemorrhage is_a: HP:0100659 ! Abnormality of the cerebral vasculature [Term] id: HP:0002171 name: Gliosis def: "The presence of `gliosis` (MPATH:182) in the `central nervous system` (FMA:55675)." [HPO:sdoelken] synonym: "Cerebral gliosis" EXACT [] xref: MeSH:D005911 "Gliosis" xref: UMLS:C0017639 "Gliosis" is_a: HP:0100705 ! Abnormality of the glial cells [Term] id: HP:0002172 name: Postural instability xref: UMLS:C1843921 "Postural instability" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002173 name: Hypoglycemic seizures is_a: HP:0001943 ! Hypoglycemia is_a: HP:0011145 ! Symptomatic seizures [Term] id: HP:0002174 name: Postural tremor alt_id: HP:0006925 alt_id: HP:0007197 def: "A type of tremors that is triggered by holding a limb in a fixed position." [HPO:probinson] xref: UMLS:C0234378 "Postural tremor" is_a: HP:0001337 ! Tremor [Term] id: HP:0002176 name: Spinal cord compression def: "External mechanical compression of the spinal cord." [HPO:probinson] comment: Clinical abnormalities vary according to the site of the compression\nany may comprise pain, weakness, sensory loss, incontinence, and impotence. The compression may be caused by fractures of the spine, neoplasms, abscesses, and other factors. xref: MeSH:D013117 "Spinal Cord Compression" xref: UMLS:C0037926 "Spinal Cord Compression" is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002179 name: Opisthotonus comment: Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. synonym: "Opisthotonos" EXACT [] xref: UMLS:C0151818 "OPISTHOTONOS" is_a: HP:0001257 ! Spasticity [Term] id: HP:0002180 name: Neurodegeneration def: "Progressive loss of neural cells and tissue." [HPO:probinson] synonym: "Neuro-degenerative disease" EXACT [] synonym: "Neurodegenerative disease" RELATED [] is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0002181 name: Cerebral edema def: "Abnormal accumulation of fluid in the brain." [HPO:curators] synonym: "Brain edema" EXACT [] synonym: "Brain oedema" EXACT [] xref: MeSH:D001929 "Brain Edema" xref: UMLS:C0006114 "Cerebral Edema" is_a: HP:0000969 ! Edema is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002183 name: Phonophobia def: "An abnormally heightened sensitivity to loud sounds." [HPO:probinson] comment: Phonophobia is generally used to refer to discomfort caused by loud sounds rather than 'fear' of sounds as the etymology of the word might suggest. xref: UMLS:C0751466 "Phonophobia" is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality [Term] id: HP:0002185 name: Neurofibrillary tangles alt_id: HP:0003132 alt_id: HP:0007070 def: "Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form." [HPO:sdoelken] synonym: "Neurofibrillary tangles composed of disordered microtubules in neurons" EXACT [] synonym: "Paired helical filaments" EXACT [] xref: MeSH:D016874 "Neurofibrillary Tangles" xref: UMLS:C0085400 "Neurofibrillary Tangles" is_a: HP:0100314 ! Cerebral inclusion bodies [Term] id: HP:0002186 name: Apraxia def: "A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements." [HPO:probinson] synonym: "Apraxias" RELATED [] xref: UMLS:C0003635 "Apraxia" is_a: HP:0011442 ! Abnormality of central motor function is_a: HP:0011446 ! Abnormality of higher mental function [Term] id: HP:0002187 name: Intellectual disability, profound def: "Profound mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:probinson] comment: Persons with profound mental retardation generally require constant care. synonym: "Mental retardation, profound" EXACT [] synonym: "Profound mental retardation" EXACT [] xref: UMLS:C0020796 "Profound Mental Retardation" is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0002188 name: Delayed CNS myelination alt_id: HP:0005770 alt_id: HP:0006974 alt_id: HP:0007300 def: "`Delayed` (PATO:0000502) `myelination` (GO:0042552) in the central nervous system." [HPO:probinson] comment: A delay in the process of myelination, which normally begins in the fifth fetal month and is about 90 percent complete at the age of two years. Myelination continues into early adulthood. synonym: "Delay in central nervous system myelination" EXACT [] xref: UMLS:C1277241 "Delayed myelination" is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0002189 name: Excessive daytime sleepiness xref: UMLS:C0694563 "Excessive daytime sleepiness" is_a: HP:0002360 ! Sleep disturbance [Term] id: HP:0002190 name: Choroid plexus cyst def: "A cyst occurring within the `choroid plexus` (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 "Choroid plexus cyst" is_a: HP:0007376 ! Abnormality of the choroid plexus [Term] id: HP:0002191 name: Spasticity, progressive is_a: HP:0001257 ! Spasticity [Term] id: HP:0002193 name: Pseudobulbar behavioral symptoms 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 "Behavioral Symptoms" is_a: HP:0002200 ! Pseudobulbar signs is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0002194 name: Delayed gross motor development alt_id: HP:0006905 alt_id: HP:0007046 alt_id: HP:0008973 def: "A type of `motor delay` (HP:0001270) characterized by an delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling." [HPO:probinson] synonym: "Delayed gross motor skills" EXACT [] synonym: "Delayed motor skills" EXACT [] synonym: "Developmental delay, gross motor" EXACT [] synonym: "Gross motor delay" EXACT [] synonym: "Limited gross motor development" EXACT [] xref: UMLS:C1837658 "Delayed gross motor development" is_a: HP:0001270 ! Motor delay [Term] id: HP:0002195 name: Dysgenesis of the cerebellar vermis def: "Defective development of the `vermis of cerebellum` (FMA:76928)." [HPO:probinson] is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0002196 name: Myelopathy xref: UMLS:C0037928 "Myelopathy" is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002197 name: Generalized seizures alt_id: HP:0002409 alt_id: HP:0007114 alt_id: HP:0007339 def: "Seizures of with initial involvement of both cerebral hemispheres." [HPO:probinson] comment: Generalized seizures are sub-categorized into several major types: generalized tonic clonic; myoclonic; absence; and atonic. synonym: "Generalized seizures, recurrent" EXACT [] synonym: "Infrequent generalized seizures" EXACT [] synonym: "Seizures, generalized, afebrile" EXACT [] xref: UMLS:C0234533 "Generalized seizures" is_a: HP:0001250 ! Seizures [Term] id: HP:0002198 name: Dilated fourth ventricle alt_id: HP:0007223 def: "An abnormal dilatation of the `fourth cerebral ventricle` (FMA:78469)." [HPO:probinson] synonym: "Enlarged fourth ventricle" EXACT [] xref: UMLS:C1855679 "Enlarged fourth ventricle" is_a: HP:0002119 ! Ventriculomegaly is_a: HP:0010950 ! Abnormality of the fourth ventricle [Term] id: HP:0002199 name: Hypocalcemic seizures synonym: "Seizures due to hypocalcemia" EXACT [] is_a: HP:0002901 ! Hypocalcemia is_a: HP:0011145 ! Symptomatic seizures [Term] id: HP:0002200 name: Pseudobulbar signs def: "Pseudobulbar signs result from injury to an upper motor neuron lesion to the corticobulbar pathways in the pyramidal tract. Patients have difficulty chewing, swallowing and demonstrate slurred 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:C1838579 "Pseudobulbar signs" is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002202 name: Pleural effusion def: "The presence of an excessive amount of fluid in the `pleural cavity` (FMA:9740)." [HPO:probinson] xref: MeSH:D010996 "Pleural Effusion" xref: UMLS:C1253943 "Pleural effusion" is_a: HP:0002103 ! Abnormality of the pleura [Term] id: HP:0002203 name: Respiratory paralysis def: "Inability to move the muscles of respiration." [HPO:probinson] xref: MeSH:D012133 "Respiratory Paralysis" xref: UMLS:C0035232 "Diaphragmatic Paralysis" is_a: HP:0004347 ! Weakness of muscles of respiration [Term] id: HP:0002204 name: Pulmonary embolism xref: MeSH:D011655 "Pulmonary Embolism" xref: UMLS:C0034065 "Pulmonary Embolism" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002205 name: Recurrent respiratory infections alt_id: HP:0002782 alt_id: HP:0002873 def: "An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections." [HPO:probinson] synonym: "Frequent respiratory infections" EXACT [] synonym: "Multiple respiratory infections" EXACT [] synonym: "respiratory infections, recurrent" EXACT [HPO:skoehler] synonym: "Susceptibility to respiratory infections" EXACT [] xref: UMLS:C1866203 "Recurrent respiratory infections" is_a: HP:0002719 ! Recurrent infections is_a: HP:0011947 ! Respiratory tract infection [Term] id: HP:0002206 name: Pulmonary fibrosis alt_id: HP:0006523 def: "Replacement of normal lung tissues are progressively replaced by fibroblasts and collagen." [DDD:tkuijpers, HPO:probinson] comment: Pulmonary fibrosis leads to an irreversible impairment of alveolar oxygen transfer. xref: MeSH:D011658 "Pulmonary fibrosis" xref: UMLS:C0034069 "Pulmonary Fibrosis" is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002207 name: Diffuse reticular or finely nodular infiltrations is_a: HP:0002088 ! Abnormality of the lung [Term] id: HP:0002208 name: Coarse hair xref: UMLS:C0277959 "Coarse hair" is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002209 name: Sparse scalp hair alt_id: HP:0002233 alt_id: HP:0002556 alt_id: HP:0004534 alt_id: HP:0004541 alt_id: HP:0004542 alt_id: HP:0004772 alt_id: HP:0004774 alt_id: HP:0004775 def: "Decreased number of `head hairs` (FMA:54241) per unit area." [pmid:19125436] comment: Hypotrichosis should not be used as a synonym as, formally, it means underdevelopment of the hair. No normal values for number of hairs per unit area exist. synonym: "Scalp hair, thinning" EXACT [] synonym: "Sparse, thin scalp hair" EXACT [] synonym: "sparse-absent scalp hair" EXACT [] synonym: "Thin scalp hair" RELATED [] xref: UMLS:C1857042 "Sparse scalp hair" xref: UMLS:C1859465 "Sparse-absent scalp hair" is_a: HP:0008070 ! Sparse hair is_a: HP:0100037 ! Abnormality of the scalp hair [Term] id: HP:0002211 name: White forelock def: "A triangular depigmented region of white hairs located in the anterior midline of the scalp." [DDD:probinson] xref: UMLS:C0344312 "White forelock" is_a: HP:0011365 ! Patchy hypopigmentation of hair [Term] id: HP:0002212 name: Curly hair xref: UMLS:C0558165 "Curly hair" is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002213 name: Fine hair xref: UMLS:C0423867 "Fine hair" is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002215 name: Sparse axillary hair alt_id: HP:0004514 alt_id: HP:0004518 alt_id: HP:0004545 def: "Reduced number or density of `axillary hair` (FMA:54253)." [HPO:probinson] synonym: "Sparse axillary and pubic hair" EXACT [] synonym: "Sparse scalp, axillary, and pubic hair" EXACT [] synonym: "sparse to absent axillary hair" EXACT [] xref: UMLS:C1858574 "Sparse axillary hair" is_a: HP:0008070 ! Sparse hair is_a: HP:0100134 ! Abnormality of the axillary hair [Term] id: HP:0002216 name: Premature graying of hair synonym: "Early graying" EXACT [] synonym: "Premature graying" EXACT [] synonym: "Premature greying" EXACT [] synonym: "Premature hair graying" EXACT [] xref: UMLS:C0263498 "Premature graying" is_a: HP:0007495 ! Prematurely aged appearance is_a: HP:0011358 ! Generalized hypopigmentation of hair [Term] id: HP:0002217 name: Slow-growing hair alt_id: HP:0004767 alt_id: HP:0004770 alt_id: HP:0004781 def: "Hair whose growth is slower than normal." [HPO:probinson] synonym: "Slow growing hair" EXACT [] xref: UMLS:C1832348 "Slow-growing hair" is_a: HP:0011363 ! Abnormality of hair growth rate [Term] id: HP:0002218 name: Silver-gray hair def: "Hypopigmented hair that appears silver-gray." [HPO:probinson] synonym: "Silver-gray hair color" EXACT [] synonym: "Silvery-gray hair" EXACT [] xref: UMLS:C1836576 "Silver-gray hair" is_a: HP:0011358 ! Generalized hypopigmentation of hair [Term] id: HP:0002219 name: Facial hypertrichosis xref: UMLS:C1851400 "FACIAL HYPERTRICHOSIS" is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0002220 name: Melanin pigment aggregation in hair shafts is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002221 name: Absent axillary hair alt_id: HP:0004549 def: "Absence of `axillary hair` (FMA:54253)." [HPO:probinson] xref: UMLS:C1859392 "Absent axillary hair" is_a: HP:0002298 ! Absent hair is_a: HP:0100134 ! Abnormality of the axillary hair [Term] id: HP:0002223 name: Absent eyebrow def: "Absence of the `eyebrow` (FMA:54237)." [HPO:probinson] synonym: "Absent eyebrows" EXACT [] xref: UMLS:C1844604 "Scand-absent eyebrows" is_a: HP:0002298 ! Absent hair is_a: HP:0100840 ! Aplasia/Hypoplasia of the eyebrow [Term] id: HP:0002224 name: Woolly hair xref: UMLS:C0343073 "Woolly hair" is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002225 name: Sparse pubic hair alt_id: HP:0004778 def: "Reduced number or density of `pubic hair`(FMA:54319)." [HPO:probinson] synonym: "Decreased sexual hair" EXACT [] synonym: "sparse to absent pubic hair" EXACT [] xref: UMLS:C1858573 "Sparse pubic hair" is_a: HP:0008070 ! Sparse hair is_a: HP:0100133 ! Abnormality of the pubic hair [Term] id: HP:0002226 name: White eyebrow alt_id: HP:0002228 alt_id: HP:0004536 def: "White color (lack of pigmentation) of the eyebrow." [HPO:probinson] is_a: HP:0000534 ! Abnormality of the eyebrow is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002227 name: White eyelashes def: "White color (lack of pigmentation) of the eyelashes." [DDD:cmoss] xref: UMLS:C1836736 "White eyelashes" is_a: HP:0000499 ! Abnormality of the eyelashes is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002229 name: Alopecia areata def: "Loss of round patches of scalp hair." [HPO:probinson] comment: In alopecia areata, round bald patches can appear suddenly. xref: MeSH:D000506 "Alopecia Areata" xref: UMLS:C0002171 "Alopecia Areata" is_a: HP:0001596 ! Alopecia is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002230 name: Generalized hirsutism def: "Abnormally increased hair growth over much of the entire body." [HPO:curators] xref: UMLS:C1849211 "Generalized hirsutism" is_a: HP:0001007 ! Hirsutism [Term] id: HP:0002231 name: Sparse body hair def: "Sparseness of the body hair." [HPO:probinson] xref: UMLS:C1862863 "Sparse body hair" is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002232 name: Patchy alopecia xref: UMLS:C1862862 "Patchy alopecia" is_a: HP:0001596 ! Alopecia [Term] id: HP:0002234 name: Early balding def: "Loss of scalp hair at an earlier than normal age." [HPO:probinson] is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002235 name: Pili canaliculi alt_id: HP:0002285 def: "Uncombable hair." [HPO:probinson] synonym: "Uncombable hair" EXACT [] xref: UMLS:C1860608 "Pili canaliculi" is_a: HP:0003328 ! Abnormal hair laboratory examination [Term] id: HP:0002236 name: Frontal upsweep of hair def: "Upward and/or sideward growth of anterior hair." [pmid:19125436] synonym: "Cowlick " EXACT [] synonym: "Upswept frontal hair" EXACT [] is_a: HP:0010721 ! Abnormal hair whorl [Term] id: HP:0002239 name: Gastrointestinal hemorrhage def: "`Hemorrhage` (MPATH:119) affecting the `gastrointestinal tract` (FMA:71132)." [HPO:probinson] synonym: "Gastrointestinal bleeding" EXACT [] synonym: "GI haemorrhage" EXACT [] synonym: "GI hemorrhage" EXACT [] xref: MeSH:D006471 "Gastrointestinal Hemorrhage" xref: UMLS:C1880931 "Hemorrhage, GI" is_a: HP:0011024 ! Abnormality of the gastrointestinal tract is_a: HP:0011029 ! Internal hemorrhage [Term] id: HP:0002240 name: Hepatomegaly alt_id: HP:0001393 alt_id: HP:0001398 def: "Abnormally `increased size` (PATO:0000586) of the `liver` (FMA:7197)." [HPO:probinson] synonym: "Enlarged liver" EXACT [] xref: MeSH:D006529 "Hepatomegaly" xref: UMLS:C0019209 "Hepatomegaly" is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0003271 ! Visceromegaly [Term] id: HP:0002242 name: Abnormality of the intestine alt_id: HP:0002628 def: "An abnormality of the `intestine` (FMA:7199). The closely related term enteropathy is used to refer to any disease of the intestine." [HPO:probinson] comment: The intestine (also known as bowel) is comprised of the `small intestine` (FMA:7200) and the `large intestine` (FMA:7201). synonym: "Enteropathy" EXACT [] xref: UMLS:C0021831 "Enteropathy" is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0002243 name: Protein-losing enteropathy def: "Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract." [HPO:probinson] comment: Affected individuals may present with peripheral edema, diarrhea with or without bleeding, abdominal pain, and/or weight loss. Protein-losing enteropathy is not a disease but is a manifestation of a number of gastrointestinal diseases and can be related to factors such as lymphatic obstruction, mucosal disease with erosions, ulcerations, or increased mucosal permeability to proteins. xref: MeSH:D011504 "Protein-Losing Enteropathies" xref: UMLS:C0033680 "Protein-Losing Enteropathy" is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002244 name: Abnormality of the small intestine def: "An abnormality of the `small intestine` (FMA:7200)." [HPO:probinson] is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002245 name: Meckel diverticulum def: "Meckel's diverticulum is a congenital diverticulum located in the distal ileum." [MeSH:probinson] xref: MeSH:D008467 "Meckel Diverticulum" xref: UMLS:C0025037 "Meckel's Diverticulum" is_a: HP:0001549 ! Abnormality of the ileum [Term] id: HP:0002246 name: Abnormality of the duodenum def: "An abnormality of the duodenum, i.e., the first section of the small intestine." [HPO:curators] is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002247 name: Duodenal atresia def: "A developmental defect resulting in complete obliteration of the duodenal lumen, that is, an abnormal closure of the duodenum." [HPO:curator] xref: UMLS:C0266174 "Duodenal atresia" is_a: HP:0002246 ! Abnormality of the duodenum is_a: HP:0011100 ! Intestinal atresia [Term] id: HP:0002248 name: Hematemesis def: "The vomiting of blood." [HPO:probinson] comment: The source of hematemesis is generally the upper gastrointestinal tract. xref: MeSH:D006396 "Hematemesis" xref: UMLS:C0018926 "HAEMATEMESIS" is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002249 name: Melena def: "The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., sotmach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding." [HPO:probinson] xref: MeSH:D008551 "Melena" xref: UMLS:C0474585 "melena" is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002250 name: Abnormality of the large intestine def: "Any abnormality of the `large intestine` (FMA:7201)." [HPO:probinson] comment: The large intestine comprises the cecum and colon. is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002251 name: Aganglionic megacolon alt_id: HP:0002029 alt_id: HP:0002030 alt_id: HP:0002606 alt_id: HP:0004391 def: "An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon." [HPO:probinson, pmid:17965226] comment: Aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. synonym: "Congenital megacolon" EXACT [] synonym: "Hirschsprung disease" EXACT [] synonym: "Hirschsprung megacolon" EXACT [] synonym: "Megacolon" EXACT [] xref: MeSH:D006627 "Hirschsprung Disease" xref: UMLS:C0025160 "Megacolon" is_a: HP:0004362 ! Abnormality of the enteric ganglia [Term] id: HP:0002253 name: Colonic diverticulosis alt_id: HP:0005860 def: "The presence of `multiple` (PATO:0002118) `diverticula` (MPATH:68) of the colon." [HPO:probinson] synonym: "Colon diverticula" EXACT [] synonym: "Colonic diverticula" EXACT [] xref: MeSH:D043963 "Diverticulosis, Colonic" xref: UMLS:C0012811 "Colonic Diverticula" is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0005222 ! Bowel diverticulosis [Term] id: HP:0002254 name: Intermittent diarrhea xref: UMLS:C0239181 "Intermittent diarrhea" is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002256 name: Small bowel diverticula xref: UMLS:C0267498 "SMALL BOWEL DIVERTICULA" is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0005222 ! Bowel diverticulosis [Term] id: HP:0002257 name: Chronic rhinitis def: "Chronic inflammation of the nasal mucosa." [HPO:probinson] xref: UMLS:C0008711 "Chronic rhinitis NOS" is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0002263 name: Exaggerated cupid's bow def: "More pronounced paramedian peaks and median notch of the Cupid's bow." [pmid:19125428] comment: This may be associated with a Deep philtrum, but that finding should be coded separately. synonym: "Cupid bow upper lip" EXACT [] synonym: "Cupid-bow shaped upper lip" EXACT [] synonym: "Prominent cupid-bow of upper lip" EXACT [] synonym: "Synonym: Cupid's bow, accentuated" EXACT [] xref: UMLS:C1850629 "Cupid bow upper lip" is_a: HP:0011339 ! Abnormality of upper lip vermillion [Term] id: HP:0002265 name: Large fleshy ears xref: UMLS:C0554972 "Large ears" is_a: HP:0000400 ! Macrotia [Term] id: HP:0002266 name: Focal clonic seizures xref: UMLS:C0752323 "Focal Clonic Seizures" is_a: HP:0011153 ! Focal motor seizures [Term] id: HP:0002267 name: Exaggerated startle response def: "An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face." [HPO:curators] synonym: "Exaggerated acoustic startle response" EXACT [] synonym: "Hyperekplexia" RELATED [] synonym: "Increased startle response" EXACT [] xref: UMLS:C1740801 "Exaggerated startle response" is_a: HP:0002071 ! Abnormality of extrapyramidal motor function [Term] id: HP:0002268 name: Paroxysmal dystonia alt_id: HP:0002412 def: "A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes." [HPO:probinson] synonym: "Episodic dystonia" EXACT [] is_a: HP:0001332 ! Dystonia [Term] id: HP:0002269 name: Abnormality of neuronal migration alt_id: HP:0007317 def: "An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain." [HPO:probinson] synonym: "Abnormal neuronal migration" EXACT [] synonym: "Heterotopias/abnormal migration" EXACT [] synonym: "Migrational brain disorder" EXACT [] synonym: "Neuronal migration disorder" EXACT [] xref: MeSH:D054081 "Neuronal Migration Disorders" xref: UMLS:C1837249 "Neuronal migration disorder" is_a: HP:0007319 ! Morphological abnormality of the central nervous system [Term] id: HP:0002270 name: Abnormality of the autonomic nervous system def: "An abnormality of the `autonomic nervous system` (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. is_a: HP:0000707 ! Abnormality of the nervous system [Term] id: HP:0002271 name: Autonomic dysregulation def: "An abnormality of the regulation of the `autonomic nervous system` (FMA:9905)." [HPO:probinson] xref: UMLS:C1836729 "Autonomic dysregulation" is_a: HP:0002270 ! Abnormality of the autonomic nervous system [Term] id: HP:0002273 name: Tetraparesis alt_id: HP:0002338 def: "Weakness of all four limbs." [HPO:probinson] synonym: "Quadriparesis" EXACT [] xref: UMLS:C0270790 "Tetraparesis" is_a: HP:0010549 ! Paralysis due to lesions of the principle motor tracts [Term] id: HP:0002275 name: Poor motor coordination xref: UMLS:C1848453 "Poor motor coordination" is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0002277 name: Horner syndrome alt_id: HP:0000596 def: "An abnormality resulting from a lesion of the sympathetic nervous system characterized by a combination of unilateral ptosis, miosis, and often ipsilateral hypohidrosis and conjunctival injection." [HPO:probinson] comment: Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva. synonym: "Horner's syndrome" EXACT [] xref: MeSH:D006732 "Horner Syndrome" xref: UMLS:C0019937 "Horner Syndrome" is_a: HP:0000508 ! Ptosis is_a: HP:0000616 ! Miosis is_a: HP:0002270 ! Abnormality of the autonomic nervous system [Term] id: HP:0002280 name: Enlarged cisterna magna def: "Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata." [HPO:probinson] comment: Cerebrospinal fluid produced in the fourth ventricle drains into the cisterna magna via the lateral apertures and median aperture. synonym: "Large cisterna magna" EXACT [] xref: UMLS:C1853377 "Enlarged cisterna magna" is_a: HP:0002119 ! Ventriculomegaly [Term] id: HP:0002281 name: Gray matter heterotopias def: "Gray matter heterotopia is a neurological disorder caused by clumps of grey matter being located in the wrong part of the brain. It is characterized as a type of cortical malformation. The neurons in heterotopia may appear to be normal, except for their mislocation; nuclear studies have shown glucose metabolism equal to that of normally positioned gray matter. The condition causes a variety of symptoms, but usually includes some degree of epilepsy or recurring seizures, and often affects the brain's ability to function on higher levels. Symptoms range from nonexistent to profound, in which case heterotopia can result in severe seizure disorder, loss of motor skills, and mental retardation." [DDD:ssisodiya, HPO:curators] xref: UMLS:C1839544 "Gray matter heterotopias" is_a: HP:0002269 ! Abnormality of neuronal migration is_a: HP:0002282 ! Heterotopia [Term] id: HP:0002282 name: Heterotopia synonym: "Heterotopias" EXACT [] xref: UMLS:C0008519 "Ectopia, NOS" is_a: HP:0002269 ! Abnormality of neuronal migration [Term] id: HP:0002283 name: Diffuse brain atrophy 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 "Diffuse brain atrophy" 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:0002286 name: Fair hair alt_id: HP:0002214 alt_id: HP:0002294 def: "A lesser degree of hair pigmentation than would otherwise be expected." [DDD:cmoss] comment: For instance, in Angelman syndrome, reduced expression of the gene OCA2 is associated with light-colored hair and fair skin, such that affected children often have noticeably fairer hair than their unaffected relatives. synonym: "Blond hair" EXACT [] synonym: "Light colored hair" EXACT [] xref: UMLS:C0239801 "Blonde hair" xref: UMLS:C1849221 "Fair hair" xref: UMLS:C1858571 "Light colored hair" is_a: HP:0011358 ! Generalized hypopigmentation of hair [Term] id: HP:0002287 name: Progressive alopecia def: "Progressive loss of hair." [HPO:probinson] xref: UMLS:C1851885 "Progressive alopecia" is_a: HP:0001596 ! Alopecia [Term] id: HP:0002289 name: Alopecia universalis alt_id: HP:0004550 def: "Loss of all hair on the entire body." [HPO:probinson] synonym: "Alopecia, complete" EXACT [] is_a: HP:0001596 ! Alopecia [Term] id: HP:0002290 name: Poliosis def: "Circumscribed depigmentation of the hair of the head or the eyelashes." [HPO:curators] xref: UMLS:C0221262 "Poliosis" is_a: HP:0011365 ! Patchy hypopigmentation of hair [Term] id: HP:0002292 name: Frontal balding def: "Absence of hair in the anterior midline and/or parietal areas." [pmid:19125436] synonym: "Frontal balding (male pattern baldness)" EXACT [] is_a: HP:0011360 ! Acquired abnormal hair pattern [Term] id: HP:0002293 name: Alopecia of scalp is_a: HP:0001596 ! Alopecia is_a: HP:0100037 ! Abnormality of the scalp hair [Term] id: HP:0002296 name: Progressive hypotrichosis def: "Progressively reduced or lacking hair growth." [HPO:curators] is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0002297 name: Red hair xref: UMLS:C0239803 "Red hair" is_a: HP:0009887 ! Abnormality of hair pigmentation [Term] id: HP:0002298 name: Absent hair alt_id: HP:0004548 xref: UMLS:C0574763 "absent hair" is_a: HP:0002115 ! Sparse or absent hair [Term] id: HP:0002299 name: Brittle hair def: "Fragile, easily breakable hair." [DDD:cmoss] comment: Brittle is used to describe hair which is very short because of an abnormality is in the structure of the shaft. Microscopically the ends appear fractured. Affected patients may report bits of hair on the collar or pillow. Brittle hair can be distinguished from hypotrichosis due to slow or deficient growth (e.g., due to hypotrichosis simplex) and hypotrichosis due to the hair being fine and soft where the hair just wears out too quickly (e.g., due to ectodermal dysplasia). is_a: HP:0010719 ! Abnormality of hair texture [Term] id: HP:0002300 name: Mutism xref: MeSH:D009155 "Mutism" xref: UMLS:C0026884 "Mutism" is_a: HP:0002167 ! Neurological speech impairment is_a: HP:0100851 ! Abnormal emotion/affect behavior [Term] id: HP:0002301 name: Hemiplegia def: "Paralysis (complete loss of muscle function) in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] xref: MeSH:D006429 "Hemiplegia" xref: UMLS:C0018991 "Hemiplegia" is_a: HP:0004374 ! Hemiplegia/hemiparesis [Term] id: HP:0002304 name: Akinesia def: "Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily." [HPO:probinson] comment: Akinesia is a typical extrapyramidal abnormality. xref: UMLS:C0085623 "Akinesia" is_a: HP:0002374 ! Diminished movement [Term] id: HP:0002305 name: Athetosis alt_id: HP:0007167 def: "Athetosis (from the Greek word for 'changeable' or 'unfixed') refers to an inability to sustain the muscles of the fingers, toes, tongue, or any other group of muscles in a fixed position. Instead, posture is interrupted by slow, purposeless involuntary movements." [HPO:curators] synonym: "Athetoid movements" EXACT [] xref: MeSH:D001264 "Athetosis" xref: UMLS:C0004158 "Athetosis" is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002307 name: Drooling def: "Habitual flow of saliva out of the mouth." [HPO:probinson] synonym: "Dribbling" EXACT [] synonym: "Sialorrhea" EXACT [HPO:sdoelken] xref: UMLS:C0013132 "Drooling" is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality is_a: HP:0003781 ! Excessive salivation [Term] id: HP:0002308 name: Arnold-Chiari malformation def: "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators] synonym: "Arnola-Chiari malformation" EXACT [] synonym: "Chiari malformation" EXACT [] xref: MeSH:D001139 "Arnold-Chiari Malformation" xref: UMLS:C0555206 "ARNOLD-CHIARI MALFORMATION" is_a: HP:0002438 ! Cerebellar malformation [Term] id: HP:0002310 name: Orofacial dyskinesia synonym: "Orofacial dyskinesias" EXACT [] xref: UMLS:C0152115 "Orofacial Dyskinesia" is_a: HP:0100660 ! Dyskinesia [Term] id: HP:0002311 name: Incoordination alt_id: HP:0002276 synonym: "Difficulties in coordination" EXACT [] synonym: "Incoordination of limb movements" EXACT [] synonym: "Limb incoordination" EXACT [] xref: UMLS:C0520966 "Incoordination" xref: UMLS:C1836396 "Limb incoordination" is_a: HP:0011443 ! Abnormality of coordination [Term] id: HP:0002312 name: Clumsiness def: "Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects." [HPO:probinson] xref: UMLS:C0233844 "Clumsiness" is_a: HP:0002311 ! Incoordination [Term] id: HP:0002313 name: Spastic paraparesis xref: MeSH:D020336 "Paraparesis, Spastic" xref: UMLS:C0037771 "Paraparesis, Spastic" is_a: HP:0002061 ! Lower limb spasticity is_a: HP:0002385 ! Paraparesis [Term] id: HP:0002314 name: Degeneration of the lateral corticospinal tracts alt_id: HP:0007254 def: "Deterioration of the tissues of the `lateral corticospinal tracts` (FMA:72635)." [HPO:probinson] synonym: "Degeneration of lateral corticospinal tracts" EXACT [] is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts [Term] id: HP:0002315 name: Headache alt_id: HP:0000266 alt_id: HP:0001354 def: "Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve." [HPO:probinson, pmid:15304572] comment: Headache is one of the most common types of recurrent pain as well as one of the most frequent symptoms in neurology. In addition to occasional headaches, there are well-defined headache disorders that vary in incidence, prevalence and duration and can be divided into two broad categories. In secondary headache disorders, headaches are attributed to another condition, such as brain tumour or head injury; for the primary disorders the headache is not due to another condition. synonym: "Headaches" EXACT [] xref: MeSH:D006261 "Headache" xref: UMLS:C0018681 "Headache" is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002317 name: Unsteady gait synonym: "Gait instability" EXACT [] xref: UMLS:C0231686 "Gait instability" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002318 name: Cervical myelopathy xref: UMLS:C0149645 "Cervical myelopathy" is_a: HP:0002196 ! Myelopathy [Term] id: HP:0002319 name: Thin corpus callosum synonym: "Thinning of the corpus callosum" EXACT [] xref: UMLS:C1853378 "Thin corpus callosum" is_a: HP:0200010 ! Abnormal thickness of corpus callosum [Term] id: HP:0002321 name: Vertigo def: "An abnormal sensation of spinning while the body is actually stationary." [HPO:probinson] synonym: "Dizziness" RELATED [] xref: MeSH:D014717 "Vertigo" xref: UMLS:C0042571 "Vertigo" is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0002322 name: Resting tremor def: "A resting tremor occurs when muscles are at rest and becomes less noticeable or disappears when the affected muscles are moved. Resting tremors are often slow and coarse." [HPO:probinson] synonym: "Tremor at rest" EXACT [] xref: UMLS:C0234379 "Resting Tremor" is_a: HP:0001337 ! Tremor [Term] id: HP:0002323 name: Anencephaly xref: MeSH:D000757 "Anencephaly" xref: UMLS:C2021655 "anencephaly" is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0002324 name: Hydranencephaly def: "A defect of development of the brain characterized by replacement of greater portions of the cerebral hemispheres and the corpus striatum by cerebrospinal fluid (CSF) and glial tissue." [HPO:probinson] xref: MeSH:D006832 "Hydranencephaly" xref: UMLS:C0020225 "Hydranencephaly" is_a: HP:0002323 ! Anencephaly [Term] id: HP:0002326 name: Transient ischemic attack synonym: "TIA" EXACT [] synonym: "Transient ischemic attacks" EXACT [] xref: MeSH:D002546 "Ischemic Attack, Transient" xref: UMLS:C0007787 "Attacks, Transient Ischemic" is_a: HP:0001297 ! Stroke is_a: HP:0002637 ! Cerebral ischemia [Term] id: HP:0002329 name: Drowsiness def: "Excessive daytime sleepiness." [HPO:probinson] xref: UMLS:C0013144 "Drowsiness" is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0002330 name: Paroxysmal drowsiness def: "Attacks of disabling daytime drowsiness and low alertness." [HPO:probinson] is_a: HP:0002329 ! Drowsiness [Term] id: HP:0002331 name: Headache (with pheochromocytoma) is_a: HP:0002315 ! Headache [Term] id: HP:0002332 name: Lack of peer relationships is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0002333 name: Motor deterioration def: "Loss of previously present motor (i.e., movement) abilities." [HPO:probinson] xref: UMLS:C1866284 "Motor deterioration" is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002334 name: Abnormality of the cerebellar vermis def: "An anomaly of the `vermis of cerebellum` (FMA:76928)." [HPO:probinson] is_a: HP:0002438 ! Cerebellar malformation [Term] id: HP:0002335 name: Agenesis of cerebellar vermis alt_id: HP:0007125 def: "Congenital absence of the `vermis of cerebellum` (FMA:76928)." [HPO:probinson] synonym: "Cerebellar vermis aplasia" EXACT [] xref: UMLS:C1861732 "CEREBELLAR VERMIS APLASIA" is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0002339 name: Abnormality of the caudate nucleus 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. is_a: HP:0010994 ! Abnormality of the striatum [Term] id: HP:0002340 name: Caudate atrophy xref: UMLS:C1858116 "Caudate atrophy" is_a: HP:0007374 ! Atrophy/Degeneration involving the caudate nucleus [Term] id: HP:0002341 name: Cervical cord compression alt_id: HP:0007145 def: "Compression of the spinal cord in the cervical region, generally manifested by paresthesias and numbness, weakness, difficulty walking, abnormalities of coordination, and neck pain or stiffness." [HPO:probinson] synonym: "Cervical cord compression myelopathy" EXACT [] xref: UMLS:C0852866 "Cervical cord compression" xref: UMLS:C1867486 "Cervical cord compression myelopathy" is_a: HP:0002176 ! Spinal cord compression [Term] id: HP:0002342 name: Intellectual disability, moderate alt_id: HP:0007303 def: "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators] synonym: "Mental retardation, moderate" EXACT [] synonym: "Moderate mental deficiency" EXACT [] synonym: "Moderate mental retardation" EXACT [] is_a: HP:0001249 ! Intellectual disability [Term] id: HP:0002343 name: Normal pressure hydrocephalus def: "A form of `hydrocephalus` (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 "Hydrocephalus, Normal Pressure" is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0002344 name: Progressive neurologic deterioration synonym: "Neurologic deterioration" EXACT [] synonym: "Neurologic deterioration, progressive" EXACT [] synonym: "Progressive mental deterioration" EXACT [] synonym: "Progressive neurodegeneration" EXACT [] xref: UMLS:C1854838 "Neurologic deterioration, progressive" is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002345 name: Action tremor def: "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement." [HPO:curators] xref: UMLS:C0234376 "Action Tremor" is_a: HP:0001337 ! Tremor [Term] id: HP:0002346 name: Head tremor def: "An unintentional, oscillating to-and-fro muscle movement affecting head movement." [HPO:probinson] xref: UMLS:C0239882 "Head tremor" is_a: HP:0001337 ! Tremor [Term] id: HP:0002349 name: Focal seizures without impairment of consciousness or awareness def: "A `partial seizure` (HP:0007359) in which consciousness is maintained." [HPO:probinson] synonym: "Simple partial seizures" EXACT [] xref: UMLS:C0234974 "Simple Partial Seizures" is_a: HP:0007359 ! Focal seizures [Term] id: HP:0002350 name: Cerebellar cyst synonym: "Cerebellar cysts" EXACT [HPO:skoehler] xref: UMLS:C1847762 "Cerebellar cysts" is_a: HP:0002438 ! Cerebellar malformation is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0002352 name: Leukoencephalopathy alt_id: HP:0006838 alt_id: HP:0007073 def: "This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells." [HPO:probinson] comment: This feature can be demonstrated by magnetic resonance imaging or computer tomography. xref: MeSH:D056784 "Leukoencephalopathies" xref: UMLS:C0270612 "Leukoencephalopathy" is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002353 name: EEG abnormality alt_id: HP:0001346 alt_id: HP:0002429 alt_id: HP:0006841 def: "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] synonym: "Abnormal EEG" EXACT [] synonym: "Abnormal electroencephalogram" EXACT [] synonym: "Electroencephalogram abnormal" EXACT [] synonym: "Electroencephalogram abnormalities" EXACT [] xref: UMLS:C0151611 "ABNORMAL ELECTROENCEPHALOGRAM" is_a: HP:0001311 ! Neurophysiological abnormality [Term] id: HP:0002354 name: Memory impairment alt_id: HP:0000747 alt_id: HP:0002081 def: "An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness." [HPO:probinson] comment: Affected individuals tend to lose their train of thought in conversation, begin tasks but forget their intention while doing it, repeat things often during conversations, and have difficulties in tasks of daily living. synonym: "Forgetfulness" EXACT [] synonym: "Memory loss" EXACT [] xref: UMLS:C0002622 "Memory loss" xref: UMLS:C0233794 "Memory impairment" xref: UMLS:C0542476 "Forgetfulness" is_a: HP:0011446 ! Abnormality of higher mental function [Term] id: HP:0002355 name: Difficulty walking alt_id: HP:0007101 alt_id: HP:0009030 def: "Reduced ability to walk (ambulate)." [HPO:probinson] synonym: "Difficulty in walking" EXACT [] xref: UMLS:C0311394 "Difficulty walking" is_a: HP:0001288 ! Gait disturbance is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0002356 name: Writer's cramp def: "A focal dystonia of the fingers, hand, and/or forearm that appears when the affected person attempts to do a task that requires fine motor movements such as writing or playing a musical instrument." [HPO:probinson] xref: UMLS:C0338902 "Writer's cramp" is_a: HP:0004373 ! Focal dystonia [Term] id: HP:0002357 name: Dysphasia xref: UMLS:C0973461 "Dysphasia" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002359 name: Frequent falls xref: UMLS:C0850703 "Frequent falls" is_a: HP:0002311 ! Incoordination is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0002360 name: Sleep disturbance def: "An abnormality of sleep including such phenomena as 1) insomnia/hypersomnia, 2) non-restorative sleep, 3) sleep schedule disorder, 4) excessive daytime somnolence, 5) sleep apnea, and 6) restlessness." [HPO:curators] synonym: "Sleep disturbances" EXACT [HPO:skoehler] xref: UMLS:C0851578 "Sleep Disturbances" is_a: HP:0000708 ! Behavioural/Psychiatric Abnormality is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002361 name: Psychomotor deterioration def: "Loss of previously present mental and motor abilities." [HPO:probinson] synonym: "Psychomotor degeneration" EXACT [] xref: UMLS:C1836842 "Psychomotor degeneration" is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002362 name: Shuffling gait xref: UMLS:C0231688 "Gait, Shuffling" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002363 name: Abnormality of the brainstem def: "An anomaly of the `brainstem` (FMA:79876)." [HPO:probinson] comment: Note: The term 'bulbar' refers to the brainstem. is_a: HP:0007319 ! Morphological abnormality of the central nervous system [Term] id: HP:0002365 name: Hypoplasia of the brainstem def: "Underdevelopment of the `brainstem` (FMA:79876)." [HPO:probinson] comment: This finding can be demonstrated by magnetic resonance imaging. synonym: "Brainstem hypoplasia" EXACT [] synonym: "Hypoplastic brain stem" EXACT [] synonym: "Hypoplastic brainstem" EXACT [] xref: UMLS:C1837232 "Hypoplastic brainstem" is_a: HP:0007362 ! Aplasia/Hypoplasia of the brainstem [Term] id: HP:0002366 name: Abnormality of the lower motor neuron alt_id: HP:0007276 def: "An abnormality of the ` lower motor neuron` (FMA:84632)." [HPO:probinson] synonym: "Lower motor neuron disease" EXACT [] synonym: "Lower motor neuron manifestations" EXACT [] synonym: "Lower motor neuron signs" EXACT [] xref: UMLS:C1865412 "Lower motor neuron signs" is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0002367 name: Visual hallucinations xref: UMLS:C0233763 "Hallucinations, Visual" is_a: HP:0000738 ! Hallucinations [Term] id: HP:0002370 name: Poor coordination xref: UMLS:C0563243 "Poor coordination" is_a: HP:0002311 ! Incoordination [Term] id: HP:0002371 name: Loss of speech is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002372 name: Normal interictal EEG xref: UMLS:C1843146 "Normal interictal EEG" is_a: HP:0002353 ! EEG abnormality [Term] id: HP:0002373 name: Febrile seizures alt_id: HP:0002175 alt_id: HP:0007102 def: "Febrile seizures are convulsions induced by a fever in infants or small children and are generally characterized by loss of consciousness and tonic-clonic movements. Most febrile seizures last a minute or two." [HPO:curators] synonym: "Febrile convulsions" EXACT [] synonym: "Seizures, febrile, in early childhood" EXACT [] synonym: "Seizures, generalized, associated with fever" EXACT [] xref: MeSH:D003294 "Seizures, Febrile" xref: UMLS:C0595982 "Febrile convulsions" is_a: HP:0001250 ! Seizures [Term] id: HP:0002374 name: Diminished movement is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002375 name: Hypokinesia alt_id: HP:0002603 alt_id: HP:0006795 def: "Abnormally diminished motor activity. In contrast to paralysis, hypokinesia is not characterized by a lack of motor strength, but rather by a poverty of movement. The typical habitual movements (e.g., folding the arms, crossing the legs) are reduced in frequency." [HPO:probinson] synonym: "Decreased spontaneous movement" EXACT [] synonym: "Decreased spontaneous movements" EXACT [] xref: MeSH:D018476 "Hypokinesia" xref: UMLS:C0086439 "Hypokinesia" xref: UMLS:C1839631 "Decreased spontaneous movements" is_a: HP:0002374 ! Diminished movement [Term] id: HP:0002376 name: Developmental regression alt_id: HP:0002471 alt_id: HP:0002489 alt_id: HP:0006797 alt_id: HP:0006828 alt_id: HP:0006854 alt_id: HP:0007037 alt_id: HP:0007242 alt_id: HP:0007247 def: "Loss of developmental skills, as manifested by loss of developmental milestones." [DDD:hvfirth] comment: Developmental regression is said to occur when a child that has reached a certain psychomotor developmental stage starts to regress and to lose the acquired milestones. synonym: "Loss of developmental milestones" EXACT [] synonym: "Mental deterioration in childhood" EXACT [] synonym: "Neurodevelopmental regression" EXACT [] synonym: "Psychomotor regression" EXACT [] synonym: "Psychomotor regression beginning in infancy" EXACT [] synonym: "Psychomotor regression in infants" EXACT [] synonym: "Psychomotor regression, progressive" EXACT [] xref: UMLS:C1836830 "Developmental regression" xref: UMLS:C1855019 "Psychomotor regression" is_a: HP:0100543 ! Cognitive impairment [Term] id: HP:0002377 name: Paraganglioma-related cranial nerve palsy def: "A cranial nerve palsy associated with a paraganglioma of the head or neck." [HPO:probinson] is_a: HP:0002864 ! Paraganglioma of head and neck is_a: HP:0006824 ! Cranial nerve paralysis [Term] id: HP:0002378 name: Hand tremor xref: UMLS:C0239842 "HAND TREMOR" is_a: HP:0001337 ! Tremor [Term] id: HP:0002380 name: Fasciculations alt_id: HP:0002468 alt_id: HP:0007092 def: "Fasciculations are observed as small, local, involuntary muscle contractions (twitching) visible under the skin. Fasciculations result from increased irritability of an axon (which in turn is often a manifestation of disease of a motor neuron). This leads to sporadic discharges of all the muscle fibers controlled by the axon in isolation from other motor units." [HPO:curators] comment: This finding can be visible clinically and can be demonstrated by electromyography (EMG). synonym: "Fasciculation" EXACT [] synonym: "Muscle fasciculation" EXACT [] xref: MeSH:D005207 "Fasciculation" xref: UMLS:C0015644 "Fasciculation" is_a: HP:0004305 ! Involuntary movements [Term] id: HP:0002381 name: Aphasia xref: MeSH:D001037 "Aphasia" xref: UMLS:C0003537 "Aphasia" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002383 name: Encephalitis xref: MeSH:D004660 "Encephalitis" xref: UMLS:C0014038 "Encephalitis" is_a: HP:0011450 ! CNS infection [Term] id: HP:0002384 name: Focal seizures with impairment of consciousness or awareness def: "A `partial seizure` (HP:0007359) characterized by impairment or loss of consciousness." [HPO:curators] synonym: "Complex focal seizures" EXACT [] synonym: "Complex partial seizures" EXACT [] synonym: "Dyscognitive seizures" EXACT [] xref: UMLS:C0149958 "Complex partial seizures" is_a: HP:0007359 ! Focal seizures is_a: HP:0011146 ! Dialeptic seizures [Term] id: HP:0002385 name: Paraparesis def: "Weakness or partial paralysis in the lower limbs." [HPO:probinson] comment: Diseases of the spinal cord that affect motor function of the legs produce a gait characterized by both leg weakness and spasticity. xref: MeSH:D020335 "Paraparesis" xref: UMLS:C0221166 "Paraparesis" is_a: HP:0010551 ! Paraplegia/paraparesis [Term] id: HP:0002389 name: Cavum septum pellucidum alt_id: HP:0006884 alt_id: HP:0007091 alt_id: HP:0007336 def: "If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space." [HPO:curators] synonym: "Large cavum septi pellucidi" EXACT [] synonym: "Persistent cavum septum pellucidum" EXACT [] synonym: "Widened cavum septum pellucidum" EXACT [] xref: UMLS:C0228158 "Cavum septum pellucidum" is_a: HP:0007375 ! Abnormality of the septum pellucidum [Term] id: HP:0002390 name: Spinal arteriovenous malformation xref: UMLS:C0348023 "Spinal arteriovenous malformation" is_a: HP:0002143 ! Abnormality of the spinal cord is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0002392 name: EEG with polyspike wave complexes def: "The presence of complexes of repetitive spikes and waves in EEG." [HPO:jalbers] synonym: "EEG: spike and multispike waves, 3-4 hz" EXACT [] is_a: HP:0010850 ! EEG with spike-wave complexes [Term] id: HP:0002394 name: Walking on tiptoes is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002395 name: Lower limb hyperreflexia alt_id: HP:0007245 alt_id: HP:0007288 synonym: "Brisk lower extremity reflexes" EXACT [] synonym: "Hyperreflexia in lower limbs" EXACT [] synonym: "Hyperreflexia in the lower limbs" EXACT [] synonym: "Increased deep tendon reflexes in the lower limbs" EXACT [] synonym: "Leg hyperreflexia" EXACT [] xref: UMLS:C1836696 "Brisk lower extremity reflexes" xref: UMLS:C1836900 "Lower limb hyperreflexia" is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0002396 name: Cogwheel rigidity xref: UMLS:C0151564 "Cog-wheel rigidity" is_a: HP:0002063 ! Rigidity [Term] id: HP:0002398 name: Degeneration of anterior horn cells alt_id: HP:0007136 alt_id: HP:0008312 synonym: "Anterior horn cell loss" EXACT [] synonym: "Degeneration of alpha-motor neurons in anterior horn cells of the spinal cord" EXACT [] synonym: "Degeneration of spinal cord anterior horn cells" EXACT [] synonym: "Loss of spinal cord anterior horn cells" EXACT [] synonym: "Progressive loss of anterior horn cells" EXACT [] synonym: "Spinal cord anterior horn cell degeneration" EXACT [] xref: UMLS:C1843505 "Spinal cord anterior horn cell degeneration" is_a: HP:0002127 ! Upper motor neuron abnormality is_a: HP:0006802 ! Abnormality of the anterior horn cell is_a: HP:0007373 ! Atrophy/Degeneration involving motor neurons [Term] id: HP:0002401 name: Stroke-like episodes synonym: "Strokelike episodes" EXACT [] xref: UMLS:C1857287 "Stroke-like episodes" is_a: HP:0001297 ! Stroke [Term] id: HP:0002403 name: Positive Romberg sign def: "The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception." [HPO:probinson] xref: UMLS:C0240914 "Positive Romberg sign" is_a: HP:0010831 ! Impaired proprioception [Term] id: HP:0002404 name: Thickened superior cerebellar peduncle def: "Increased width of the `superior cerebellar peduncle` (FMA:72495)." [HPO:probinson] synonym: "Thick cerebellar peduncles" EXACT [] is_a: HP:0011932 ! Abnormality of the superior cerebellar peduncle [Term] id: HP:0002406 name: Limb dysmetria def: "A type of `dysmetria` (HP:0001310) involving the limbs." [HPO:probinson] xref: UMLS:C1854489 "Limb dysmetria" is_a: HP:0001310 ! Dysmetria [Term] id: HP:0002408 name: Cerebral arteriovenous malformation synonym: "Cerebral av malformations" EXACT [] xref: MeSH:D002538 "Intracranial Arteriovenous Malformations" xref: UMLS:C0917804 "cerebral AV malformation" is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0002410 name: Aqueductal stenosis def: "Stenosis of the cerebral aqueduct (also known as the mesencephalic duct, aqueductus mesencephali, or aqueduct of Sylvius), which connects the third cerebral ventricle in the diencephalon to the fourth ventricle, which is between the pons and cerebellum." [HPO:curators] synonym: "Aqueduct of Sylvius stenosis" EXACT [] synonym: "Aqueduct stenosis " EXACT [] xref: UMLS:C0265216 "Aqueductal stenosis" is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002411 name: Myokymia def: "Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle." [HPO:probinson, MeSH:D020385] xref: MeSH:D020385 "Myokymia" xref: UMLS:C0684219 "Myokymia" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002414 name: Spina bifida def: "Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele." [HPO:curators] xref: UMLS:C0080178 "Spinal Dysraphism" is_a: HP:0010301 ! Spinal dysraphism [Term] id: HP:0002415 name: Leukodystrophy def: "Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes." [HPO:probinson] comment: The deterioration coincides with clinical regression of skills, and in the most severe cases neurological devastation. Leukodystrophy should be distinguished from leukoencephalopathy (defect causing secondary myelin damage). Note that the term leukodystrophy is most often used to refer to a disease rather than a phenotypic feature, and a more precise description is to be preferred if possible. xref: UMLS:C0023520 "Leucodystrophy NOS" is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0002416 name: Subependymal cysts xref: UMLS:C1833431 "Subependymal cysts" is_a: HP:0002118 ! Abnormality of the cerebral ventricles is_a: HP:0010576 ! Intracranial cystic lesion [Term] id: HP:0002418 name: Abnormality of the midbrain synonym: "Abnormality of the mesencephalon" EXACT [] is_a: HP:0007319 ! Morphological abnormality of the central nervous system [Term] id: HP:0002419 name: Molar tooth sign on MRI def: "An abnormal appearance of the midbrain in axial magnetic resonance imaging in which the elongated superior cerebellar peduncles give the midbrain an appearance reminiscent of a molar or wisdom tooth." [HPO:probinson, pmid:14657304] comment: Molar tooth appearance results from a lack of normal decussation of superior cerebellar peduncular fiber tracts which in turn leads to enlargement of the peduncles, which also follow a more horizontal course. The absence of crossing fibers also leads to a reduction in the anteroposterior diameter of the midbrain and deepening of the interpeduncular cistern. synonym: "'molar tooth sign'" 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:C1969141 "'Molar tooth sign'" is_a: HP:0002418 ! Abnormality of the midbrain [Term] id: HP:0002421 name: Poor head control def: "Difficulty to maintain correct position of the head while standing or sitting." [HPO:probinson] xref: UMLS:C1836038 "Poor head control" is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0002423 name: Long-tract signs comment: Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions. synonym: "Long tract signs" EXACT [] xref: UMLS:C1865903 "Long tract signs" is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0002425 name: Anarthria def: "A defect in the motor ability that enables speech." [HPO:curators] xref: UMLS:C0234517 "Anarthria" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002427 name: Motor aphasia def: "Impairment of expressive language and relative preservation of receptive language abilities. That is, the patient understands language (speech, writing) but cannot express it." [HPO:probinson] xref: MeSH:D001039 "Aphasia, Broca" xref: UMLS:C0003550 "Aphasia, Motor" is_a: HP:0002381 ! Aphasia [Term] id: HP:0002435 name: Meningocele def: "Protrusion of the meninges through a defect of the vertebral column." [HPO:sdoelken] xref: MeSH:D008588 "Meningocele" xref: UMLS:C0025299 "Meningocele" is_a: HP:0002414 ! Spina bifida is_a: HP:0007319 ! Morphological abnormality of the central nervous system is_a: HP:0010651 ! Abnormality of the meninges [Term] id: HP:0002436 name: Occipital meningocele xref: UMLS:C1848652 "Occipital meningocele" is_a: HP:0002435 ! Meningocele [Term] id: HP:0002438 name: Cerebellar malformation xref: UMLS:C1846143 "Cerebellar malformation" is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0002439 name: Frontolimbic dementia xref: UMLS:C1836151 "Frontolimbic dementia" is_a: HP:0000726 ! Dementia [Term] id: HP:0002442 name: Dyscalculia def: "A specific learning disability involving mathematics and arithmetic." [DDD:probinson] xref: MeSH:D060705 "Dyscalculia" xref: UMLS:C1411876 "Dyscalculia" is_a: HP:0001328 ! Specific learning disability [Term] id: HP:0002443 name: Abnormality of the hypothalamus 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. is_a: HP:0010662 ! Abnormality of the diencephalon [Term] id: HP:0002444 name: Hypothalamic hamartoma 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 "Hypothalamic Hamartoma" is_a: HP:0009731 ! Cerebral hamartomata is_a: HP:0012286 ! Abnormal hypothalamus morphology [Term] id: HP:0002445 name: Tetraplegia alt_id: HP:0010552 def: "Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord." [HPO:probinson] synonym: "Quadriplegia" EXACT [] xref: MeSH:D011782 "Quadriplegia" xref: UMLS:C0034372 "Quadriplegia" is_a: HP:0010549 ! Paralysis due to lesions of the principle motor tracts [Term] id: HP:0002446 name: Astrocytosis def: "Proliferation of `astrocytes` (CL:0000127) in the area of a lesion of the central nervous system." [HPO:probinson] xref: UMLS:C0751171 "Astrocytosis" is_a: HP:0100705 ! Abnormality of the glial cells [Term] id: HP:0002448 name: Progressive encephalopathy is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0002450 name: Abnormality of the motor neurons is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002451 name: Limb dystonia def: "A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs." [HPO:probinson] xref: UMLS:C0751093 "Dystonia, Limb" is_a: HP:0001332 ! Dystonia [Term] id: HP:0002453 name: Abnormality of the globus pallidus alt_id: HP:0007040 def: "An abnormality of the `globus pallidus` (FMA:61835)." [HPO:probinson] comment: The globus pallidus is a cerebral nucleus located medially to the putamen and laterally to the internal capsule. is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0002454 name: Eye of the tiger anomaly of globus pallidus def: "The presence, on T2-weighted magnetic resonance imaging, of markedly low signal intensity if the `globus pallidus` (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. is_a: HP:0002453 ! Abnormality of the globus pallidus [Term] id: HP:0002457 name: Abnormal head movements xref: UMLS:C0476217 "Abnormal head movements" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002459 name: Dysautonomia alt_id: HP:0002387 alt_id: HP:0007310 def: "`Dysfunction` (PATO:0001641) 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. synonym: "Autonomic dysfunction" EXACT [] xref: UMLS:C0013363 "Dysautonomia" is_a: HP:0002270 ! Abnormality of the autonomic nervous system [Term] id: HP:0002460 name: Distal muscle weakness alt_id: HP:0002598 alt_id: HP:0002935 alt_id: HP:0003497 alt_id: HP:0006940 alt_id: HP:0009008 def: "Reduced strength of the musculature of the distal extremities." [HPO:probinson] comment: Typically, at onset the lower limbs are more affected than upper limbs. The distribution of weakness is often roughly symmetric. synonym: "Distal limb muscle weakness" EXACT [] synonym: "Distal limb weakness" EXACT [] synonym: "Distal muscular weakness" EXACT [] synonym: "Muscle weakness, distal" EXACT [] synonym: "Muscle weakness, distal limbs, due to neuronopathy" EXACT [] synonym: "Weakness of distal muscles" EXACT [] xref: UMLS:C0427065 "Distal muscle weakness" is_a: HP:0001324 ! Muscle weakness is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0002461 name: Dense calcifications in the cerebellar dentate nucleus is_a: HP:0007352 ! Cerebellar calcifications is_a: HP:0100321 ! Abnormality of the dentate nucleus [Term] id: HP:0002463 name: Language impairment xref: UMLS:C0023015 "Language Disorder" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002464 name: Spastic dysarthria def: "A type of dysarthria related to bilateral damage of the upper motor neuron tracts of the pyramidal and extra- pyramidal tracts. Speech of affected individuals is slow, effortful, and has a harsh vocal quality." [HPO:probinson] xref: UMLS:C0454596 "Dysarthria, Spastic" is_a: HP:0001257 ! Spasticity is_a: HP:0001260 ! Dysarthria [Term] id: HP:0002465 name: Poor speech xref: UMLS:C1848207 "Poor speech" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002470 name: Nonprogressive cerebellar ataxia is_a: HP:0001251 ! Ataxia [Term] id: HP:0002472 name: Small cerebral cortex alt_id: HP:0006791 alt_id: HP:0007151 def: "Reduced size of the `cerebral cortex` (FMA:61830)." [HPO:probinson] synonym: "Decreased volume of cerebral cortex" EXACT [] xref: UMLS:C1837503 "Small cerebral cortex" is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0002474 name: Expressive language delay alt_id: HP:0007192 def: "A delay in the acquisition of the ability to use language to communicate needs, wishes, or thoughts." [HPO:probinson] synonym: "Deficit in expressive language" EXACT [] xref: UMLS:C0454641 "Expressive language delay" is_a: HP:0000750 ! Delayed speech and language development [Term] id: HP:0002475 name: Meningomyelocele def: "Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column." [HPO:probinson] comment: Meningomyelocele can result if more than one or two vertebral bodies are affected by spina bifida. The meningomyelocele is usually covered by a thin, vulnerable membrane. Meningomyelocele is generally accompanied by neurological deficits. synonym: "Spina bifida cystica" EXACT [HPO:sdoelken] xref: MeSH:D008591 "Meningomyelocele" xref: UMLS:C0025312 "Myelomeningocele" is_a: HP:0002435 ! Meningocele [Term] id: HP:0002476 name: Primitive reflexes (palmomental, snout, glabellar) synonym: "Primitive reflexes" EXACT [] xref: UMLS:C0422895 "Primitive reflexes" is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002478 name: Progressive spastic quadriplegia synonym: "Progressive spastic quadriparesis" EXACT [] xref: UMLS:C1859736 "Progressive spastic quadriplegia" is_a: HP:0001257 ! Spasticity [Term] id: HP:0002480 name: Hepatic encephalopathy def: "Central nervous system dysfunction in association with liver failure and characterized clinically (depending on degree of severity) by lethargy, confusion, nystagmus, decorticate posturing, spasticity, and bilateral Babinski reflexes." [HPO:probinson] xref: MeSH:D006501 "Hepatic Encephalopathy" xref: UMLS:C0019151 "Hepatic Encephalopathy" is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0002483 name: Bulbar signs xref: UMLS:C1856507 "Bulbar signs" is_a: HP:0002363 ! Abnormality of the brainstem [Term] id: HP:0002486 name: Myotonia alt_id: HP:0003632 alt_id: HP:0003754 alt_id: HP:0003792 def: "An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation." [HPO:probinson] comment: Patients often describe myotonia as stiffness that is worse at the onset of activity and that improves with repeated muscle contractions. Myotonia tends to worsen in cold weather. Myotonia can be elicited by voluntary muscle contraction of by muscle percussion (e.g., by tapping the thenar eminence). During physical examination, myotonia may be elicited by asking the patient to make a tight fist and then quickly open the hand. Myotonia is caused by an abnormality in the muscle membrane, i.e., of the ion channels that control the contraction of muscle fibers. synonym: "Delayed relaxation of muscle fibers after contraction" EXACT [] xref: MeSH:D009222 "Myotonia" xref: UMLS:C0027125 "Myotonia" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0002487 name: Hyperkinesis def: "Motor hyperactivity with excessive movement of muscles of the body as a whole." [HPO:probinson] synonym: "Hyperkinesia" EXACT [] xref: MeSH:D006948 "Hyperkinesis" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002488 name: Acute leukemia synonym: "Acute leukemias" EXACT [] xref: UMLS:C0085669 "Acute leukemias" is_a: HP:0001909 ! Leukemia created_by: peter creation_date: 2008-03-27T10:32:00Z [Term] id: HP:0002490 name: Increased CSF lactate def: "Increased concentration of lactate in the cerebrospinal fluid." [HPO:curators] synonym: "Increased cerebrospinal fluid lactate" EXACT [] synonym: "Increased CSF lactic acid" EXACT [] xref: UMLS:C1167918 "Increased CSF lactate" is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid [Term] id: HP:0002491 name: Spasticity of facial muscles alt_id: HP:0000313 synonym: "Spasticity of the facial muscles" EXACT [] is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001257 ! Spasticity [Term] id: HP:0002492 name: Abnormality of the corticospinal tract 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] is_a: HP:0002062 ! Abnormality of the pyramidal tracts [Term] id: HP:0002493 name: Corticospinal tract dysfunction xref: UMLS:C1839042 "Corticospinal tract dysfunction" is_a: HP:0002492 ! Abnormality of the corticospinal tract [Term] id: HP:0002494 name: Abnormal rapid eye movement (REM) sleep def: "Abnormality of REM sleep. Phases of REM sleep are characterized by desynchronized EEG patterns, increases in heart rate and blood pressure, sympathetic activation, and a profound loss of muscle tonus except for the eye and middle-ear muscles. There are then phases of rapid eye movements." [HPO:curators] synonym: "Abnormal rapid eye movement sleep" EXACT [] xref: UMLS:C0392188 "Abnormal rapid eye movement sleep" is_a: HP:0002360 ! Sleep disturbance [Term] id: HP:0002495 name: Impaired vibratory sensation alt_id: HP:0006836 alt_id: HP:0007116 def: "A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient." [HPO:probinson] comment: Impaired vibratory sensation may suggesti involvement of the posterior column-medial lemniscus pathway, which is responsible for transmitting fine touch, vibration and conscious proprioceptive information from the body to the cerebral cortex. synonym: "Decreased vibration sense" EXACT [] synonym: "Decreased vibratory sense" EXACT [] synonym: "Diminished vibratory sense" EXACT [] synonym: "Impaired vibratory sense" EXACT [] xref: UMLS:C1856692 "Impaired vibratory sense" is_a: HP:0003474 ! Sensory impairment [Term] id: HP:0002497 name: Spastic ataxia xref: UMLS:C1849156 "SPASTIC ATAXIA" is_a: HP:0001251 ! Ataxia [Term] id: HP:0002500 name: Abnormality of the cerebral white matter def: "An abnormality of the `cerebral white matter` (FMA:241998)." [HPO:probinson] comment: This finding can be demonstrated by magnetic resonance imaging, especially with t2 signalling. synonym: "Cerebral white matter abnormalities" EXACT [] synonym: "White matter abnormalities" EXACT [] synonym: "White matter alterations" EXACT [] xref: UMLS:C1866186 "White matter abnormalities" is_a: HP:0010993 ! Abnormality of the cerebral subcortex [Term] id: HP:0002501 name: Spasticity of pharyngeal muscles is_a: HP:0001257 ! Spasticity [Term] id: HP:0002503 name: Spinocerebellar tract degeneration synonym: "Degeneration of the spinocerebellar tracts" EXACT [] synonym: "Spinocerebellar degeneration" EXACT [] xref: UMLS:C1866751 "Spinocerebellar tract degeneration" is_a: HP:0003133 ! Abnormality of the spinocerebellar tracts [Term] id: HP:0002504 name: Calcification of the small brain vessels comment: This finding can be made upon neuropathologic examination. is_a: HP:0002514 ! Cerebral calcification is_a: HP:0004934 ! Vascular calcification [Term] id: HP:0002505 name: Progressive inability to walk is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002506 name: Diffuse cerebral atrophy alt_id: HP:0006954 def: "Diffuse unlocalised atrophy affecting the cerebrum." [HPO:sdoelken] synonym: "Cerebral atrophy, diffuse" EXACT [] is_a: HP:0002059 ! Cerebral atrophy is_a: HP:0002283 ! Diffuse brain atrophy [Term] id: HP:0002507 name: Semilobar holoprosencephaly def: "A type of holoprosencephaly in which the left and right frontal and parietal lobes are fused and the interhemispheric fissure is only present posteriorly." [gc:hpe] xref: UMLS:C0751617 "Semi-lobar holoprosencephaly" is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0002508 name: Malformation of brainstem structures is_a: HP:0002363 ! Abnormality of the brainstem [Term] id: HP:0002509 name: Limb hypertonia xref: UMLS:C1838391 "Limb hypertonia" is_a: HP:0001276 ! Hypertonia is_a: HP:0002813 ! Abnormality of limb bone morphology [Term] id: HP:0002510 name: Spastic tetraplegia alt_id: HP:0001280 def: "Spastic paralysis affecting all four limbs." [HPO:curators] synonym: "Spastic quadriplegia" EXACT [] xref: UMLS:C0426970 "Spastic Tetraplegia" is_a: HP:0001257 ! Spasticity [Term] id: HP:0002511 name: Alzheimer disease alt_id: HP:0006878 xref: MeSH:D000544 "Alzheimer Disease" xref: UMLS:C0002395 "Alzheimer's Disease" is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002512 name: Brain stem compression xref: UMLS:C0270680 "Brain stem compression" is_a: HP:0002363 ! Abnormality of the brainstem [Term] id: HP:0002514 name: Cerebral calcification alt_id: HP:0002502 alt_id: HP:0005806 alt_id: HP:0006848 def: "The presence of `calcium deposition` (MPATH:36) within brain structures." [HPO:probinson] comment: This finding can be demonstrated upon cerebral computer tomography, magnetic resonance imaging, or potentially by standard radiography of the skull. synonym: "Brain calcification" EXACT [] synonym: "Intracerebral calcifications" EXACT [] synonym: "Intracranial calcification" EXACT [] synonym: "Intracranial calcifications" EXACT [] xref: UMLS:C0270685 "Cerebral calcification" is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0002515 name: Waddling gait synonym: "'Waddling' gait" EXACT [] xref: UMLS:C0231712 "'Waddling' gait" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002516 name: Increased intracranial pressure def: "An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid." [HPO:probinson] comment: Normal values of intracranial pressure in adults are around 7-15 mm Hg in the supine position. xref: UMLS:C2364324 "Increased Intracranial Pressure" is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002518 name: Abnormality of the periventricular white matter is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0002519 name: Hypnagogic hallucinations xref: UMLS:C0233773 "Hallucinations, Hypnagogic" is_a: HP:0000738 ! Hallucinations [Term] id: HP:0002521 name: Hypsarrhythmia def: "Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG)." [HPO:curators] synonym: "Hypsarrhythmia by EEG" EXACT [] xref: UMLS:C0684276 "Hypsarrhythmia" is_a: HP:0011198 ! EEG with generalized epileptiform discharges [Term] id: HP:0002522 name: Areflexia of lower limbs def: "Inability to elicit tendon reflexes in the lower limbs." [HPO:probinson] synonym: "Absent lower limb tendon reflexes" EXACT [] synonym: "Areflexia in lower limbs" EXACT [] synonym: "Areflexia of the lower limbs" EXACT [] synonym: "Areflexia, lower limbs" EXACT [] xref: UMLS:C1856694 "Absent lower limb tendon reflexes" is_a: HP:0001284 ! Areflexia [Term] id: HP:0002524 name: Cataplexy alt_id: HP:0002428 alt_id: HP:0002525 def: "A sudden and transient episode of bilateral loss of muscle tone, often triggered by emotions." [HPO:probinson, pmid:21931493, pmid:22249574] comment: Cataplexy is a frequent feature of narcolepsy, a neurologic disorder characterized by excessive daytime sleepiness and manifestations of disrupted rapid eye movement sleep stage. xref: MeSH:D002385 "Cataplexy" xref: UMLS:C0007384 "Cataplexy" is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002526 name: Deficit in nonword repetition def: "Impaired ability to repeat non-word sounds. Nonword repetition (NWR) is a measure of short-term phonological memory." [HPO:probinson] is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002527 name: Falls xref: UMLS:C0085639 "Falls" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002528 name: Granulovacuolar degeneration comment: Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease. xref: UMLS:C0333454 "Granulovacuolar degeneration" is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002529 name: Neuronal loss in central nervous system alt_id: HP:0002400 comment: This finding can be demonstrated by neuropathology. synonym: "Neuronal loss" EXACT [] xref: UMLS:C1850496 "Neuronal loss" is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0002530 name: Axial dystonia def: "A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles." [HPO:probinson] xref: UMLS:C1836149 "Axial dystonia" is_a: HP:0001332 ! Dystonia [Term] id: HP:0002533 name: Abnormal posturing def: "Involuntary flexion or extension of the arms and legs." [HPO:probinson] xref: UMLS:C0231471 "Abnormal posturing" is_a: HP:0100022 ! Abnormality of movement [Term] id: HP:0002536 name: Abnormal cortical gyration alt_id: HP:0006900 def: "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [HPO:curators] synonym: "Abnormal gyration" EXACT [] synonym: "Cerebral gyral anomalies" EXACT [] xref: UMLS:C1842900 "Abnormal cortical gyration" is_a: HP:0002269 ! Abnormality of neuronal migration is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0002538 name: Abnormality of the cerebral cortex def: "An abnormality of the `cerebral cortex` (FMA:61830)." [HPO:probinson] is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002539 name: Cortical dysplasia 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:C0431380 "Cortical Dysplasia" is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0002540 name: Inability to walk synonym: "Abasia" RELATED [] is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002542 name: Olivopontocerebellar atrophy alt_id: HP:0005683 def: "Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus." [HPO:probinson] synonym: "Olivopontocerebellar degeneration" EXACT [] xref: MeSH:D009849 "Olivopontocerebellar Atrophies" xref: UMLS:C0028968 "Olivopontocerebellar Atrophy" is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0002544 name: Retrocollis def: "A form of `torticollis` (HP:0000473) in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture." [HPO:probinson, pmid:17917462] comment: Retrocollis is a spasmodic form of torticollis in which the head is drawn back. xref: UMLS:C0040485 "Torticollis" is_a: HP:0000473 ! Spasmodic torticollis [Term] id: HP:0002545 name: Patchy demyelination of subcortical white matter def: "Patchy loss of myelin from nerve fibers in the central nervous system." [HPO:probinson] is_a: HP:0007305 ! CNS demyelination [Term] id: HP:0002546 name: Incomprehensible speech xref: UMLS:C1838027 "Incomprehensible speech" is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002548 name: Parkinsonism with favorable response to dopaminergic medication synonym: "Favorable response to levodopa" RELATED [] is_a: HP:0001300 ! Parkinsonism [Term] id: HP:0002549 name: Deficit in phonologic short-term memory is_a: HP:0002354 ! Memory impairment [Term] id: HP:0002550 name: Absent facial hair def: "Absence of `facial hair`(FMA:54360)." [HPO:probinson] xref: UMLS:C1848192 "Absent facial hair" is_a: HP:0002298 ! Absent hair [Term] id: HP:0002552 name: Trichodysplasia alt_id: HP:0004515 def: "`Developmental dysplasia` (MPATH:64) of the `hair` (FMA:53667)." [HPO:probinson] synonym: "Generalized trichodysplasia" RELATED [] is_a: HP:0001595 ! Abnormality of the hair [Term] id: HP:0002553 name: Highly arched eyebrow alt_id: HP:0001584 alt_id: HP:0004533 alt_id: HP:0007681 alt_id: HP:0007804 alt_id: HP:0008505 def: "Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape." [pmid:19125427] comment: Most eyebrows have some arch with downturning medially and laterally. synonym: "Arched eyebrows" EXACT [] synonym: "Bowed and upward slanting eyebrows" RELATED [] synonym: "Broad, arched eyebrows" EXACT [] synonym: "High, rounded eyebrows" EXACT [] synonym: "High-arched eyebrows" EXACT [] synonym: "Thick, flared eyebrows" EXACT [] is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0002555 name: Absent pubic hair alt_id: HP:0004537 alt_id: HP:0004556 def: "Absence of `pubic hair`(FMA:54319)." [HPO:probinson] xref: UMLS:C1859391 "Absent pubic hair" is_a: HP:0002298 ! Absent hair is_a: HP:0100133 ! Abnormality of the pubic hair [Term] id: HP:0002557 name: Hypoplastic nipples alt_id: HP:0002560 alt_id: HP:0003188 alt_id: HP:0006652 def: "Underdevelopment of the `nipple` (FMA:67771)." [HPO:probinson] synonym: "Nipple hypoplasia" EXACT [] synonym: "Small nipples" EXACT [] xref: UMLS:C1853630 "Hypoplastic nipples" is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples [Term] id: HP:0002558 name: Supernumerary nipples alt_id: HP:0002559 synonym: "Accessory nipple" EXACT [] synonym: "Accessory nipples" EXACT [] synonym: "Supernumerary nipple" EXACT [] xref: UMLS:C0266011 "ACCESSORY NIPPLES" is_a: HP:0004404 ! Abnormality of the nipple [Term] id: HP:0002561 name: Absent nipples xref: UMLS:C0425795 "Absent nipples" is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples [Term] id: HP:0002562 name: Low-set nipples xref: UMLS:C1836933 "Low-set nipples" is_a: HP:0004404 ! Abnormality of the nipple [Term] id: HP:0002563 name: Constrictive pericarditis xref: MeSH:D010494 "Pericarditis, Constrictive" xref: UMLS:C0031048 "Pericarditis, Constrictive" is_a: HP:0001701 ! Pericarditis [Term] id: HP:0002564 name: Malformation of the heart and great vessels alt_id: HP:0001632 alt_id: HP:0002565 def: "Congenital malformation of the heart or great vessels (i.e., the large blood vesslesentering and leaving the heart: aorta, the pulmonary arteries and veins, and the superior and inferior vena cava)." [HPO:probinson] comment: This category is meant to comprise congenital (developmental) structural heart defects. synonym: "Cardiovascular malformations" EXACT [] synonym: "Congenital heart defect" EXACT [] synonym: "Congenital heart defects" EXACT [] synonym: "Congenital heart disease" EXACT [] xref: UMLS:C0018798 "Congenital Heart Defects" is_a: HP:0001627 ! Abnormality of the heart [Term] id: HP:0002566 name: Intestinal malrotation alt_id: HP:0002026 def: "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:probinson, pmid:12438031] synonym: "Malrotation" EXACT [] xref: UMLS:C0221210 "Intestinal malrotation" is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002570 name: Steatorrhea def: "Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats." [HPO:probinson] xref: MeSH:D045602 "Steatorrhea" xref: UMLS:C0038238 "STEATORRHOEA" is_a: HP:0002630 ! Fat malabsorption [Term] id: HP:0002571 name: Achalasia def: "A disorder of esophageal motility characterized by the inability of the lower esophageal sphincter to relax during swallowing and by inadequate or lacking peristalsis in the lower half of the body of the esophagus." [HPO:probinson] comment: Achalasia may lead to regurgitation of food, chest pain, cough, and difficulty swallowing. xref: UMLS:C0014848 "Achalasia" is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0002579 ! Gastrointestinal dysmotility [Term] id: HP:0002572 name: Episodic vomiting def: "Paroxysmal, recurrent episodes of vomiting." [HPO:curators] xref: UMLS:C1838993 "Vomiting, episodic" is_a: HP:0002013 ! Vomiting [Term] id: HP:0002573 name: Hematochezia alt_id: HP:0002255 alt_id: HP:0002609 def: "The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus." [DDD:hfirth] comment: Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. synonym: "Bloody diarrhea" EXACT [] synonym: "Rectal bleeding" EXACT [] xref: UMLS:C0018932 "Haematochezia" xref: UMLS:C0151594 "Bloody diarrhea" xref: UMLS:C0267596 "Rectal bleeding" is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002574 name: Episodic abdominal pain def: "An `intermittent` (PATO:0000690) form of `abdominal pain` (HP:0002027)." [HPO:probinson] synonym: "Intermittent abdominal pain" RELATED [] is_a: HP:0002027 ! Abdominal pain [Term] id: HP:0002575 name: Tracheoesophageal fistula def: "An abnormal connection (fistula) between the esophagus and the trachea." [HPO:probinson] xref: MeSH:D014138 "Tracheoesophageal Fistula" xref: UMLS:C0040588 "Tracheoesophageal Fistula" is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0002576 name: Intussusception def: "An abnormality of the `intestine` (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: MeSH:D007443 "Intussusception" xref: UMLS:C0021933 "Intussusception" is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002577 name: Abnormality of the stomach 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. is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0002578 name: Gastroparesis 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: MeSH:D018589 "Gastroparesis" xref: UMLS:C0152020 "Gastroparesis" is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0002579 name: Gastrointestinal dysmotility xref: UMLS:C1836923 "Gastrointestinal dysmotility" is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0002580 name: Volvulus def: "Abnormal twisting of a portion of intestine around itself or around a stalk of mesentery tissue." [HPO:probinson] comment: Volvulus can lead to intestinal obstruction and ischemia. xref: UMLS:C0042961 "Volvulus" is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002582 name: Chronic atrophic gastritis def: "A form of `chronic gastritis` (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 "Chronic" is_a: HP:0005231 ! Chronic gastritis [Term] id: HP:0002583 name: Colitis def: "Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases." [HPO:sdoelken] xref: MeSH:D003092 "Colitis" is_a: HP:0002037 ! Inflammation of the large intestine is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0002584 name: Intestinal bleeding def: "Bleeding from the intestines." [DDD:akelly] xref: UMLS:C0267373 "Intestinal bleeding" is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002585 name: Abnormality of the peritoneum 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. is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0002586 name: Peritonitis alt_id: HP:0100591 def: "`Inflammation` (MPATH:212) of the `peritoneum` (FMA:9584)." [HPO:probinson] synonym: "Inflammation of the peritoneum" EXACT [] xref: MeSH:D010538 "Peritonitis" xref: UMLS:C0031154 "Peritonitis" is_a: HP:0002585 ! Abnormality of the peritoneum [Term] id: HP:0002587 name: Projectile vomiting def: "Vomiting that ejects the gastric contents with great force." [HPO:probinson] xref: UMLS:C0221151 "Projectile vomiting" is_a: HP:0002013 ! Vomiting [Term] id: HP:0002588 name: Duodenal ulcer def: "An erosion of the mucous membrane of in a portion of the duodenum." [HPO:probinson] xref: MeSH:D004381 "Duodenal Ulcer" xref: UMLS:C0013295 "Duodenal Ulcer" is_a: HP:0002246 ! Abnormality of the duodenum [Term] id: HP:0002589 name: Gastrointestinal atresia is_a: HP:0011024 ! Abnormality of the gastrointestinal tract [Term] id: HP:0002590 name: Paralytic ileus xref: UMLS:C0030446 "Paralytic Ileus" is_a: HP:0002595 ! Ileus [Term] id: HP:0002591 name: Polyphagia alt_id: HP:0000724 alt_id: HP:0002042 def: "A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat." [HPO:probinson] synonym: "Hyperphagia" EXACT [] synonym: "Increased appetite" RELATED [] synonym: "Voracious appetite" EXACT [] xref: MeSH:D006963 "Hyperphagia" xref: UMLS:C0020505 "POLYPHAGIA" is_a: HP:0100738 ! Abnormal eating behavior [Term] id: HP:0002592 name: Gastric ulcer def: "An `ulcer` (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: MeSH:D013276 "Stomach Ulcer" xref: UMLS:C0038358 "Gastric ulcer" is_a: HP:0004295 ! Abnormality of the gastric mucosa is_a: HP:0004398 ! Peptic ulcer [Term] id: HP:0002593 name: Intestinal lymphangiectasia def: "Angiectasia of lymph vessels (i.e., dilatation of lymphatic vessels) in the intestines." [HPO:probinson] xref: UMLS:C0024215 "Intestinal lymphangiectasia" is_a: HP:0002242 ! Abnormality of the intestine [Term] id: HP:0002594 name: Pancreatic hypoplasia alt_id: HP:0005221 def: "`Hypoplasia` (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:C1850099 "Pancreatic hypoplasia" is_a: HP:0100800 ! Aplasia/Hypoplasia of the pancreas [Term] id: HP:0002595 name: Ileus def: "Acute obstruction of the intestines preventing passage of the contents of the intestines." [HPO:sdoelken] xref: MeSH:D045823 "Ileus" xref: UMLS:C1258215 "Ileus" is_a: HP:0002242 ! Abnormality of the intestine is_a: HP:0002579 ! Gastrointestinal dysmotility is_a: HP:0005214 ! Intestinal obstruction [Term] id: HP:0002597 name: Abnormality of the vasculature def: "An abnormality of the `vasculature` (FMA:69050)." [HPO:probinson] synonym: "Vascular abnormalities" EXACT [] xref: UMLS:C0241657 "Vascular abnormalities" is_a: HP:0001626 ! Abnormality of the cardiovascular system [Term] id: HP:0002599 name: Head titubation def: "A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction." [HPO:probinson] comment: Titubation often accompanies midline cerebellar lesions. The 3-4 per second frequency of titubation is faster than the head nodding/bobbing that can be seen with thalamic lesions. synonym: "Titubation" EXACT [] xref: UMLS:C1608410 "Head titubation" is_a: HP:0002457 ! Abnormal head movements [Term] id: HP:0002600 name: Hyporeflexia of lower limbs alt_id: HP:0006861 def: "Reduced intensity of muscle tendon reflexes in the lower limbs. Reflexes are elicited by stretching the tendon of a muscle, e.g., by tapping." [HPO:probinson] comment: Reflexes are sensorimotor arcs that require some type of sensory (afferent) signal, and some motor response. While the simplest of reflexes involve direct synapse between the sensory fiber and the motor neuron (monosynaptic), many reflexes have several neurons interposed (polysynaptic reflexes). Hyporeflexia can result from a defect anywhere in this chain. synonym: "Hyporeflexia in lower limbs" EXACT [] synonym: "Hyporeflexia of the lower limbs" EXACT [] synonym: "Hyporeflexia, lower limbs" EXACT [] synonym: "Hyporeflexia/areflexia in lower limbs" EXACT [] is_a: HP:0001265 ! Hyporeflexia [Term] id: HP:0002601 name: Paresis of extensor muscles of the big toe is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0002604 name: Gastrointestinal telangiectasia def: "`Telangiectasia` (MPATH:476) affecting the`gastrointestinal tract` (FMA:71132)." [HPO:probinson] comment: Telangiectasia affecting stomach, duodenum, small bowel, and/or colon. is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature is_a: HP:0100579 ! Mucosal telangiectasiae [Term] id: HP:0002605 name: Hepatic necrosis def: "The presence of `necrosis` (MPATH:4) affecting the `liver` (FMA:7197)." [HPO:probinson] xref: UMLS:C0151798 "Hepatic necrosis" is_a: HP:0001392 ! Abnormality of the liver created_by: peter creation_date: 2008-02-20T11:32:00Z [Term] id: HP:0002607 name: Bowel incontinence alt_id: HP:0007147 def: "Involuntary fecal soiling in adults and children who have usually already been toilet trained." [HPO:sdoelken] synonym: "Anal incontinence" EXACT [] synonym: "Encopresis" EXACT [] synonym: "Fecal incontinence" EXACT [] xref: MeSH:D004688 "Encopresis" xref: UMLS:C0015732 "Bowel incontinence" is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0002608 name: Celiac disease xref: MeSH:D002446 "Celiac Disease" is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0100326 ! Immunologic hypersensitivity [Term] id: HP:0002611 name: Cholestatic liver disease xref: UMLS:C0860204 "Cholestatic liver disease" is_a: HP:0001396 ! Cholestasis [Term] id: HP:0002612 name: Congenital hepatic fibrosis def: "The presence of `fibrosis` (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 "Congenital hepatic fibrosis" is_a: HP:0001395 ! Hepatic fibrosis [Term] id: HP:0002613 name: Biliary cirrhosis def: "Progressive destruction of the small-to-medium bile ducts of the `intrahepatic biliary tree` (FMA:68016), which leads to progressive cholestasis and often end-stage liver disease." [HPO:probinson] synonym: "Primary biliary cirrhosis" RELATED [] xref: MeSH:D008105 "Liver Cirrhosis, Biliary" xref: UMLS:C0023892 "Biliary cirrhosis" is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0002614 name: Hepatic periportal necrosis 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] is_a: HP:0002605 ! Hepatic necrosis [Term] id: HP:0002615 name: Hypotension alt_id: HP:0005127 alt_id: HP:0006701 def: "Low Blood Pressure, vascular hypotension." [HPO:probinson] synonym: "Arterial hypotension" EXACT [] synonym: "Low blood pressure" EXACT [] xref: MeSH:D007022 "Hypotension" xref: UMLS:C0020649 "Hypotension" is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0002616 name: Aortic root dilatation alt_id: HP:0004750 alt_id: HP:0005125 synonym: "increased aortic root diameter" EXACT [] xref: UMLS:C0238669 "Aortic root dilatation" is_a: HP:0005111 ! Dilatation of the ascending aorta [Term] id: HP:0002617 name: Aneurysm def: "Abnormal outpouching or sac-like dilatation in the wall of an atery, vein or the heart." [HPO:probinson] synonym: "Aneurysmal disease" RELATED [] xref: MeSH:D000783 "Aneurysm" xref: UMLS:C0002940 "Aneurysm" is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002619 name: Varicose veins def: "Enlarged and tortuous veins." [HPO:probinson] xref: MeSH:D014648 "Varicose Veins" xref: UMLS:C0042345 "VEIN VARICOSE" is_a: HP:0005293 ! Venous insufficiency [Term] id: HP:0002621 name: Atherosclerosis def: "A condition characterized by patchy atheromas or atherosclerotic plaques which develop in the walls of medium-sized and large arteries and can lead to arterial stenosis with reduced or blocked blood flow." [HPO:probinson] comment: Strictly speaking, atherosclerosis is a specific type of arteriosclerosis ('hardening of the arteries'), although the terms are sometimes used interchangeably in clinical jargon. xref: MeSH:D050197 "Atherosclerosis" xref: UMLS:C0004153 "Atherosclerosis" is_a: HP:0002634 ! Arteriosclerosis [Term] id: HP:0002622 name: Dissecting aortic aneurysm xref: UMLS:C0012736 "ANEURYSM, AORTA, DISSECTING" is_a: HP:0002647 ! Aortic dissection [Term] id: HP:0002623 name: Overriding aorta def: "An overriding aorta is a congenital heart defect where the aorta is positioned directly over a ventricular septal defect, instead of over the left ventricle. The result is that the aorta receives some blood from the right ventricle, which reduces the amount of oxygen in the blood. It is one of the four conditions of the Tetralogy of Fallot. The aortic root can be displaced toward the front (anteriorly) or directly above the septal defect, but it is always abnormally located to the right of the root of the pulmonary artery. The degree of override is quite variable, with 5-95% of the valve being connected to the right ventricle." [HPO:curators] synonym: "Dextroposition of aorta" EXACT [] xref: UMLS:C0265886 "Overriding aorta" is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0002624 name: Venous abnormality xref: UMLS:C0241665 "VENOUS ABNORMALITY" is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002625 name: Deep venous thrombosis def: "Formation of a blot clot in a deep vein. The clot often blocks blood flow, causing swelling and pain. The deep veins of the leg are most often affected." [HPO:probinson] synonym: "Deep vein thrombosis" EXACT [] synonym: "Multiple deep venous thrombosis" EXACT [] xref: UMLS:C0340708 "Deep vein thrombosis" is_a: HP:0004936 ! Venous thrombosis [Term] id: HP:0002626 name: Venous varicosities of celiac and mesenteric vessels def: "Elongated and tortuous mesenteric veins, which comprise the `inferior mesenteric vein` (FMA:15391) and the `superior mesenteric vein` (FMA:14332)." [HPO:probinson] is_a: HP:0002619 ! Varicose veins [Term] id: HP:0002627 name: Right aortic arch with mirror image branching def: "The aortic arch crosses the right mainstem bronchus and not the left mainstem bronchus, but does not result in the creation of a vascular ring. The first branch is the left brachiocephalic artery which divides into the left carotid artery and left subclavian artery, the second branch is the right carotid artery, the third branch is the right subclavian artery." [DDD:dbrown, HPO:sdoelken] xref: UMLS:C0035615 "Right aortic arch" is_a: HP:0012020 ! Right aortic arch [Term] id: HP:0002629 name: Gastrointestinal arteriovenous malformation xref: UMLS:C0744321 "Gastrointestinal arteriovenous malformation" is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature is_a: HP:0100026 ! Arteriovenous malformation [Term] id: HP:0002630 name: Fat malabsorption def: "Abnormality of the absorption of fat from the gastrointestinal tract." [HPO:probinson] xref: UMLS:C0554103 "Fat malabsorption" is_a: HP:0002024 ! Malabsorption is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002631 name: Ascending aortic aneurysm is_a: HP:0004942 ! Aortic aneurysm is_a: HP:0005111 ! Dilatation of the ascending aorta [Term] id: HP:0002632 name: Low-to-normal blood pressure xref: UMLS:C1866500 "Low-to-normal blood pressure" is_a: HP:0002615 ! Hypotension [Term] id: HP:0002633 name: Vasculitis def: "Inflammation of blood vessel." [HPO:probinson] xref: MeSH:D014657 "Vasculitis" xref: UMLS:C0042384 "Vasculitis" is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002634 name: Arteriosclerosis def: "Sclerosis (hardening) of the arteries with increased thickness of the wall of arteries as well as increased stiffness and a loss of elasticity." [HPO:probinson] comment: Although arteriosclerosis and atherosclerosis are often used as if they were synonyms, they are not. Atherosclerosis is the most common type of arteriosclerosis, and is caused by plaque building up in the vessel, which in turn causes sclerosis, increased stiffness, and loss of elasticity of the affected arteries. xref: MeSH:D001161 "Arteriosclerosis" xref: UMLS:C0003850 "Arteriosclerosis" is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002635 name: Atheromatosis xref: UMLS:C0004153 "Atherosclerosis" is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0002636 name: Aneurysm of an abdominal artery def: "Abnormal outpouching or sac-like dilatation in an artery that originates from he abdominal aorta." [HPO:probinson] is_a: HP:0002617 ! Aneurysm is_a: HP:0011004 ! Abnormality of the systemic arterial tree [Term] id: HP:0002637 name: Cerebral ischemia xref: UMLS:C0007786 "Cerebral Ischemia" is_a: HP:0009145 ! Abnormalities of the cerebral arteries is_a: HP:0100545 ! Arterial stenosis [Term] id: HP:0002638 name: Superficial thrombophlebitis def: "Inflammation of a superficial vein associated with venous thrombosis (blood clot formation within the vein)." [HPO:probinson] xref: UMLS:C1510431 "Superficial thrombophlebitis" is_a: HP:0004418 ! Thrombophlebitis [Term] id: HP:0002639 name: Budd-Chiari syndrome xref: MeSH:D006502 "Budd-Chiari Syndrome" xref: UMLS:C0856761 "Budd-Chiari Syndrome" is_a: HP:0002624 ! Venous abnormality [Term] id: HP:0002640 name: Hypertension associated with pheochromocytoma def: "A type of `hypertension` (HP:0000822) associated with `pheochromocytoma` (HP:0002666)." [HPO:probinson] is_a: HP:0000822 ! Hypertension [Term] id: HP:0002641 name: Peripheral thrombosis xref: UMLS:C1849749 "Peripheral thrombosis" is_a: HP:0001977 ! Abnormal thrombosis [Term] id: HP:0002642 name: Arteriovenous fistulas of celiac and mesenteric vessels is_a: HP:0002624 ! Venous abnormality is_a: HP:0004947 ! Arteriovenous fistula [Term] id: HP:0002643 name: Neonatal respiratory distress synonym: "Infantile respiratory distress" EXACT [] synonym: "Newborn respiratory distress" EXACT [] synonym: "Respiratory distress, neonatal" EXACT [] xref: UMLS:C0852283 "Neonatal respiratory distress" is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002644 name: Abnormality of pelvic girdle bone morphology def: "An abnormality of the `bony pelvic girdle` (FMA:61412), which is a ring of bones connecting the vertebral column to the femurs." [HPO:probinson] synonym: "Abnormality of the pelvic girdle" RELATED [] is_a: HP:0011844 ! Abnormal appendicular skeleton morphology [Term] id: HP:0002645 name: Wormian bones def: "The presence of extra bones within a cranial suture. Wormian bones are irregular isolated bones which appear in addition to the usual centers of ossification of the cranium." [HPO:probinson] comment: Irregular, solated bones in the lambdoidal suture or at the fontanelles. synonym: "Extra sutural bones" EXACT [] xref: UMLS:C0222716 "Wormian bones" is_a: HP:0011329 ! Abnormality of cranial sutures [Term] id: HP:0002647 name: Aortic dissection def: "Aortic dissection refers to a tear in the intimal layer of the aorta causing a separation between the intima and the medial layers of the aorta." [HPO:curators] xref: UMLS:C0340643 "Aortic dissection" is_a: HP:0001679 ! Abnormality of the aorta [Term] id: HP:0002648 name: Abnormality of calvarial morphology def: "The presence of an `abnormal` (PATO:0000460) `shape` (PATO:0000052) of the`calvaria` (FMA:52800)." [DDD:awilkie, HPO:probinson] is_a: HP:0002683 ! Abnormality of the calvaria [Term] id: HP:0002650 name: Scoliosis alt_id: HP:0002770 alt_id: HP:0003303 alt_id: HP:0003317 alt_id: HP:0003415 def: "The presence of an abnormal lateral curvature of the spine." [HPO:curators] xref: MeSH:D012600 "Scoliosis" xref: UMLS:C0700208 "Scoliosis" is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0002651 name: Spondyloepimetaphyseal dysplasia xref: UMLS:C1863733 "Spondyloepimetaphyseal dysplasia" is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002652 name: Skeletal dysplasia alt_id: HP:0005685 def: "A general term describing features characterized by abnormal development of bones and connective tissues." [HPO:probinson] comment: The word skeletal dysplasia is most often used to describe a group of over 380 inherited conditions that involve abnormal development of bones and connective tissues. However, the word can also be used to describe the presence of a congenital defects of bones or connective tissues that are found in one or more of the diseases, especially on prenatal ultrasound, i.e., a situation in which it is often not yet possible to make an exact etiological diagnosis. This is the sense of the phrase we use in the HPO. It is, however, preferable to annotate the observed abnormalities. xref: UMLS:C0410528 "Skeletal dysplasia" is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0002653 name: Bone pain xref: UMLS:C1963077 "Bone pain" is_a: HP:0011843 ! Abnormality of skeletal physiology [Term] id: HP:0002654 name: Multiple epiphyseal dysplasia xref: UMLS:C0026760 "Multiple Epiphyseal Dysplasia" is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002655 name: Spondyloepiphyseal dysplasia alt_id: HP:0002776 alt_id: HP:0005893 def: "A disorder of bone growth affecting the vertebrae and the ends of the long bones (epiphyses)." [HPO:probinson] synonym: "Spondyloepiphyseal dysplasia tarda" EXACT [] xref: UMLS:C0038015 "Spondyloepiphyseal Dysplasia" is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002656 name: Epiphyseal dysplasia xref: UMLS:C0392476 "Epiphyseal dysplasia" is_a: HP:0002652 ! Skeletal dysplasia is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0002657 name: Spondylometaphyseal dysplasia xref: UMLS:C0700635 "Spondylometaphyseal dysplasia" is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002659 name: Increased susceptibility to fractures alt_id: HP:0002662 alt_id: HP:0002798 alt_id: HP:0005710 alt_id: HP:0005783 alt_id: HP:0005931 def: "An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:sdoelken] comment: This is a bundled term that will be made obsolete. synonym: "Abnormal susceptibility to fractures" EXACT [] synonym: "Bone fragility" EXACT [] synonym: "Increased bone fragility" EXACT [] synonym: "Increased tendency to fractures" EXACT [] xref: UMLS:C1390474 "Bone fragility" is_a: HP:0011843 ! Abnormality of skeletal physiology [Term] id: HP:0002661 name: Painless fractures due to injury def: "An increased tendency to fractures following trauma, with fractures occurring without pain." [HPO:curators] is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002663 name: Delayed epiphyseal ossification alt_id: HP:0005862 synonym: "Delayed epiphyseal maturation" EXACT [] synonym: "Delayed opacification of the epiphyses" EXACT [] synonym: "Detailed epiphyseal ossification" EXACT [] synonym: "Epiphyseal ossification delay" EXACT [] xref: UMLS:C1833001 "Late ossifying epiphyses" is_a: HP:0005930 ! Abnormality of the epiphyses is_a: HP:0010656 ! Abnormal epiphyseal ossification [Term] id: HP:0002664 name: Neoplasm alt_id: HP:0003008 alt_id: HP:0006741 def: "An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant `neoplasm` (MPATH:218) (tumour)." [HPO:probinson] synonym: "Cancer" RELATED [] synonym: "Neoplasia" EXACT [] synonym: "Oncological abnormality" EXACT [] synonym: "Oncology" EXACT [HPO:curators] xref: MeSH:D009369 "Neoplasms" xref: UMLS:C0027651 "Neoplasia" is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002665 name: Lymphoma def: "A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells." [HPO:probinson] xref: MeSH:D008223 "Lymphoma" xref: UMLS:C0024299 "Lymphoma" is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0002666 name: Pheochromocytoma def: "Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines." [HPO:probinson] xref: MeSH:D010673 "Pheochromocytoma" xref: UMLS:C1706920 "pheochromocytoma" is_a: HP:0100634 ! Neuroendocrine neoplasm [Term] id: HP:0002667 name: Nephroblastoma (Wilms tumor) alt_id: HP:0000115 def: "The presence of a `nephroblastoma` (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: MeSH:D009396 "Wilms Tumor" xref: UMLS:C0027708 "Nephroblastoma" is_a: HP:0002898 ! Embryonal neoplasm is_a: HP:0011794 ! Embryonal renal neoplasm [Term] id: HP:0002668 name: Paraganglioma alt_id: HP:0002670 alt_id: HP:0003004 def: "A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation." [HPO:probinson] synonym: "Carotid body tumors" EXACT [] synonym: "Chemodectoma" EXACT [] synonym: "Chemodectomas" EXACT [] xref: MeSH:D010235 "Paraganglioma" xref: UMLS:C0030421 "chemodectomas" is_a: HP:0100634 ! Neuroendocrine neoplasm [Term] id: HP:0002669 name: Osteosarcoma def: "A malignant bone tumor that usually develops during adolescence and usually affects the long bones including the tibia, femur, and humerus. The typical symptoms of osteosarcoma comprise bone pain, fracture, limitation of motion, and tenderness or swelling at the site of the tumor." [HPO:probinson] synonym: "Osteogenic sarcoma" EXACT [] xref: MeSH:D012516 "Osteosarcoma" xref: UMLS:C0029463 "Sarcoma, Osteogenic" is_a: HP:0010622 ! Neoplasm of the skeletal system is_a: HP:0100242 ! Sarcoma [Term] id: HP:0002671 name: Basal cell carcinoma def: "The presence of a `basal cell carcinoma` (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 "Basal Cell Carcinomas" is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0002672 name: Gastrointestinal carcinoma xref: UMLS:C0151544 "Gastrointestinal carcinoma" is_a: HP:0006749 ! Malignant gastrointestinal tract tumors [Term] id: HP:0002673 name: Coxa valga def: "Coxa valga is a deformity of the hip in which the angle between the femoral shaft and the femoral neck is increased compared to age-adjusted values (about 150 degrees in newborns gradually reducing to 120-130 degrees in adults)." [HPO:probinson] xref: MeSH:D060906 "Coxa valga" xref: UMLS:C0239137 "Coxa valga" is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0002676 name: Cloverleaf skull alt_id: HP:0004477 alt_id: HP:0005459 def: "`Trilobar` (PATO:0002241) 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 "Cloverleaf skull" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0002677 name: Small foramen magnum def: "An abnormal decrease in the size of the foramen magnum." [HPO:curators] xref: UMLS:C1861217 "Small foramen magnum" is_a: HP:0002699 ! Abnormality of the foramen magnum [Term] id: HP:0002678 name: Skull asymmetry xref: UMLS:C0424690 "Skull asymmetry" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0002679 name: Abnormality of the sella turcica def: "Abnormality of the `sella turcica` (FMA:54709), a saddle-shaped depression in the sphenoid bone at the base of the human skull." [HPO:probinson] is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002680 name: J-shaped sella turcica def: "A deformity of the sella turcica whereby the sella extends further anterior than normal such that the anterior clinoid process appears to overhang it, giving the appearance of the letter J on imaging of the skull." [HPO:curators] synonym: "J-shaped sella" EXACT [] is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0002681 name: Deformed sella turcica xref: UMLS:C1846437 "Deformed sella turcica" is_a: HP:0002679 ! Abnormality of the sella turcica [Term] id: HP:0002682 name: Broad skull def: "`Increased width` (PATO:0000600) of the skull." [HPO:probinson] xref: UMLS:C0424693 "Broad skull" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0002683 name: Abnormality of the calvaria def: "Abnormality of the `calvaria` (FMA:52800), which is the roof of the skull formed by the frontal bone, parietal bones, and occipital bone." [HPO:probinson] comment: The calvaria, or skull cap, is the upper part of the skull (cranium) and comprises the frontal, occipital and right and left parietal bones. Occasionally, calvaria is misspelled as 'calvarium' in the medical literature. is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002684 name: Thickened calvaria def: "The presence of an abnormally thick calvaria." [HPO:curators] synonym: "Calvarial thickening" EXACT [] synonym: "Calvarium thickened" EXACT [] synonym: "Increased calvarial thickness" EXACT [] synonym: "Thick calvaria" EXACT [] synonym: "Thick calvarium" EXACT [] synonym: "Thickened calcaria" EXACT [] synonym: "Thickened calvarium" EXACT [] synonym: "Thickened cranial vault" EXACT [] synonym: "Thickened cranium" EXACT [] synonym: "Thickening of the calvaria" EXACT [] xref: UMLS:C1857647 "Thickened calvaria" is_a: HP:0002683 ! Abnormality of the calvaria [Term] id: HP:0002686 name: Prenatal maternal abnormality is_a: HP:0001197 ! Abnormality of prenatal development or birth [Term] id: HP:0002687 name: Abnormality of the frontal sinuses is_a: HP:0000245 ! Abnormality of the sinuses [Term] id: HP:0002688 name: Absent frontal sinuses alt_id: HP:0005475 def: "Aplasia of `frontal sinus` (FMA:57417)." [HPO:probinson] synonym: "Absence of frontal sinuses" EXACT [] synonym: "Absent frontal sinus" EXACT [] xref: UMLS:C1849544 "Absent frontal sinuses" is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses [Term] id: HP:0002689 name: Absent paranasal sinuses def: "Aplasia of the `paranasal sinuses` (FMA:76587)." [HPO:probinson] xref: UMLS:C1857131 "Absent paranasal sinuses" is_a: HP:0005453 ! Absent/hypoplastic paranasal sinuses [Term] id: HP:0002690 name: Large sella turcica alt_id: HP:0005444 def: "An abnormal enlargement of the `sella turcica` (FMA:54709)." [HPO:probinson] synonym: "Enlarged sella turcica" EXACT [] synonym: "Prominent sella turcica" EXACT [] xref: UMLS:C1843677 "Large sella turcica" is_a: HP:0002679 ! Abnormality of the sella turcica [Term] id: HP:0002691 name: Platybasia def: "A developmental malformation of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward such that there is an abnormal flattening of the skull base." [HPO:probinson] comment: Platybasia is malformation of the base of the skull due to softening of skull bones or a developmental anomaly, with bulging upwards of the floor of the posterior cranial fossa, upward displacement of the upper cervical vertebrae, and bony impingement on the brainstem. It results in abnormal obtuseness of the basal angle that can be demonstrated radiographically. If platybasia is associated with basilar invagination, compression of the brainstem and upper cervical cord can result. xref: MeSH:D010985 "Platybasia" xref: UMLS:C0032209 "Platybasia" is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0002692 name: Hypoplastic facial bones xref: UMLS:C1846438 "Hypoplastic facial bones" is_a: HP:0011821 ! Abnormality of facial skeleton [Term] id: HP:0002693 name: Abnormality of the skull base def: "An abnormality of the base of the skull, which forms the floor of the cranial cavity and separates the brain from other facial structures. The skull base is made up of five bones: the ethmoid, sphenoid, occipital, paired frontal, and paired parietal bones, and is subdivided into 3 regions: the anterior, middle, and posterior cranial fossae. The petro-occipital fissure subdivides the middle cranial fossa into 1 central component and 2 lateral components." [HPO:curators] is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002694 name: Sclerosis of skull base alt_id: HP:0005757 def: "Increased bone density of the skull base without significant changes in bony contour." [HPO:probinson] synonym: "Marked sclerosis of skull base" EXACT [] synonym: "Sclerosis of the skull base" EXACT [] synonym: "Sclerotic of skull base" EXACT [] is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0002695 name: Symmetrical, oval parietal bone defects synonym: "Symmetrical, oval defects in the parietal bone" EXACT [] is_a: HP:0002696 ! Abnormality of the parietal bone [Term] id: HP:0002696 name: Abnormality of the parietal bone def: "Any abnormality of the `parietal bone` (FMA:9613) of the skull." [HPO:curators] is_a: HP:0002648 ! Abnormality of calvarial morphology [Term] id: HP:0002697 name: Parietal foramina def: "The presence of symmetrical and circular openings (foramina) in the parietal bone ranging in size from a few millimeters to several centimeters wide." [HPO:probinson] comment: Parietal foramina are a normal feature of fetal development, but they usually close by the fifth month of pregnancy. xref: UMLS:C0222706 "Parietal foramina" is_a: HP:0002696 ! Abnormality of the parietal bone [Term] id: HP:0002699 name: Abnormality of the foramen magnum def: "Any abnormality of the foramen magnum (the aperture through which the medulla oblongata enters and exits the skull)." [HPO:curators] is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002700 name: Large foramen magnum def: "An abnormal increase in the size of the foramen magnum." [HPO:curators] synonym: "Wide foramen magnum" EXACT [] xref: UMLS:C1867128 "Large foramen magnum" is_a: HP:0002699 ! Abnormality of the foramen magnum [Term] id: HP:0002703 name: Abnormality of skull ossification def: "An abnormality of the process of ossification of the skull. The bones of the skull derive directly from mesenchyme cells by intramembranous ossification." [HPO:curators] is_a: HP:0000929 ! Abnormality of the skull created_by: peter creation_date: 2008-02-28T11:53:00Z [Term] id: HP:0002705 name: High, narrow palate def: "The presence of a high and narrow palate." [HPO:curators] is_a: HP:0000218 ! High palate [Term] id: HP:0002707 name: Palate telangiectasia alt_id: HP:0000229 def: "The presence of small (ca. 0.5-1.0 mm) dilated blood vessels near the surface of the mucous membranes of the palate." [HPO:curators] synonym: "Palate telangiectases" EXACT [] synonym: "Palate teleangiectases" EXACT [] xref: UMLS:C0240634 "PALATE TELANGIECTASIA" is_a: HP:0000174 ! Abnormality of the palate is_a: HP:0000228 ! Oral cavity teleangiectasia [Term] id: HP:0002708 name: Prominent median palatal raphe def: "Unusual prominence of the median palatal raphe, which is the ridge formed by the fusion of the two plates of the skull that form the hard palate." [HPO:curators] xref: UMLS:C1845108 "Prominent median palatal raphe" is_a: HP:0000174 ! Abnormality of the palate [Term] id: HP:0002710 name: Commissural lip pit def: "A depression located at an oral commissure." [HPO:sdoelken, pmid:19125428] comment: Commissural lip pits have no relationship to other forms of lip pits which may be located on the vermilion of the upper or lower lip, usually paramedian. Rather, commissural pits are located at the corners of the oral aperture. synonym: "Commissural pit" EXACT [] xref: UMLS:C0399605 "Commissural lip pits" is_a: HP:0100267 ! Lip pit [Term] id: HP:0002711 name: Exaggerated median tongue furrow def: "Increased depth of the median tongue furrow." [HPO:probinson] xref: UMLS:C1845109 "Exaggerated median tongue furrow" is_a: HP:0000221 ! Furrowed tongue [Term] id: HP:0002714 name: Downturned corners of mouth alt_id: HP:0000192 def: "A morphological `abnormality of the mouth` (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:C1854116 "Downturned mouth" is_a: HP:0011338 ! Abnormality of mouth shape [Term] id: HP:0002715 name: Abnormality of the immune system alt_id: HP:0003257 alt_id: HP:0003346 alt_id: HP:0010986 def: "An abnormality of the `immune system` (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 [] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0002716 name: Lymphadenopathy alt_id: HP:0002735 def: "Enlargment (swelling) of a `lymph node` (FMA:5034)." [HPO:probinson] synonym: "Lymph node hyperplasia" EXACT [] xref: UMLS:C0497156 "Lymphadenopathy" is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002717 name: Adrenal overactivity comment: Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. is_a: HP:0011733 ! Abnormality of adrenal physiology created_by: peter creation_date: 2008-02-25T10:41:00Z [Term] id: HP:0002718 name: Recurrent bacterial infections alt_id: HP:0005355 alt_id: HP:0005361 alt_id: HP:0005367 alt_id: HP:0005391 alt_id: HP:0005393 alt_id: HP:0005410 def: "Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection." [HPO:probinson] synonym: "Bacterial infections, recurrent" EXACT [] synonym: "Frequent bacterial infections" EXACT [] synonym: "Frequent pyogenic infections" EXACT [] synonym: "Increased susceptibility to bacterial infections" EXACT [] synonym: "Prone to bacterial infection" RELATED [] synonym: "Recurrent major bacterial infections" EXACT [] synonym: "Recurrent pyogenic infections" EXACT [] synonym: "Susceptibility to pyogenic infection" EXACT [] xref: UMLS:C1843998 "Frequent bacterial infections" is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002719 name: Recurrent infections alt_id: HP:0002957 alt_id: HP:0002964 alt_id: HP:0005405 def: "Increased susceptibility to microbial infections, as manifested by recurrent episodes of infection." [HPO:probinson] synonym: "Frequent infections" EXACT [] synonym: "Frequent, severe infections" EXACT [] synonym: "Increased frequency of infection" EXACT [] synonym: "infections, recurrent" EXACT [HPO:skoehler] synonym: "Predisposition to infections" EXACT [] synonym: "Susceptibility to infection" EXACT [] xref: UMLS:C0239998 "Recurrent infections" is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002720 name: IgA deficiency alt_id: HP:0005358 alt_id: HP:0005399 alt_id: HP:0005431 alt_id: HP:0008350 def: "Decreased levels of immunoglobulin IgA." [HPO:probinson] synonym: "Decreased IgA" EXACT [] synonym: "Decreased immunoglobulin A" EXACT [] synonym: "Gamma-A globulin deficiency" EXACT [] synonym: "Low levels of immunoglobulin A" EXACT [] synonym: "Reduced IgA levels" EXACT [] xref: MeSH:D017098 "IgA Deficiency" xref: UMLS:C0553533 "Decreased IgA" is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0002721 name: Immunodeficiency alt_id: HP:0005362 alt_id: HP:0005371 synonym: "Immune deficiency" EXACT [] xref: UMLS:C0021051 "Immunodeficiency" is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002722 name: Recurrent abscess formation def: "An increased susceptibility to abscess formation, as manifested by a medical history of recurrent abscesses." [HPO:probinson] is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002723 name: Absence of bactericidal oxidative 'respiratory burst' in phagocytes is_a: HP:0010977 ! Abnormality of phagocytes [Term] id: HP:0002724 name: Recurrent Aspergillus infections def: "An increased susceptibility to Aspergillus infections, as manifested by a history of recurrent episodes of Aspergillus infections." [HPO:probinson] synonym: "Aspergillus infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C0851807 "Aspergillus infections" is_a: HP:0002841 ! Recurrent fungal infections [Term] id: HP:0002725 name: Systemic lupus erythematosus xref: UMLS:C0024141 "Lupus Erythematosus, Systemic" is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0002726 name: Recurrent Staphylococcus aureus infections def: "Increased susceptibility to Staphylococcus aureus infections, as manifested by recurrent episodes of Staphylococcus aureus infection." [HPO:probinson] synonym: "Staphylococcus aureus infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C1318973 "Staphylococcus aureus infections" is_a: HP:0007499 ! Recurrent staphylococcal infections [Term] id: HP:0002728 name: Chronic mucocutaneous candidiasis alt_id: HP:0005392 def: "Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails." [HPO:probinson, pmid:20859203] comment: The most commonly involved Candida species is Candida albicans. Chronic mucocutaneous candidiasis (CMC) is usually confined to the cutaneous surface without systemic dissemination. CMC does not represent a specific disease, but rather a phenotypic feature of several immunologic, endocrinologic, and autoimmune disorders. synonym: "Chronic candidiasis of mucosa, skin and nails" EXACT [] synonym: "Mucocutaneous candidiasis" EXACT [] xref: MeSH:D002178 "Candidiasis, Chronic Mucocutaneous" xref: UMLS:C0006848 "Mucocutaneous candidiasis" is_a: HP:0002841 ! Recurrent fungal infections is_a: HP:0011370 ! Recurrent cutaneous fungal infections [Term] id: HP:0002729 name: Follicular hyperplasia def: "Lymphadenopathy (enlargement of lymph nodes) owing to hyperplasia of follicular (germinal) centers." [HPO:probinson] is_a: HP:0002716 ! Lymphadenopathy [Term] id: HP:0002730 name: Chronic noninfectious lymphadenopathy def: "A chronic form of `lymphadenopathy` (HP:0002716) that is not related to infection." [HPO:probinson] xref: UMLS:C1858970 "Chronic noninfectious lymphadenopathy" is_a: HP:0002716 ! Lymphadenopathy [Term] id: HP:0002731 name: Defective lymphocyte apoptosis 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 "Defective lymphocyte apoptosis" is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0002732 name: Lymph node hypoplasia def: "Underdevelopment of the `lymph nodes` (FMA:5034)." [HPO:probinson] synonym: "Small lymph nodes" RELATED [] xref: UMLS:C1865377 "Small lymph nodes" is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002733 name: Abnormality of the lymph nodes alt_id: HP:0008149 def: "A `lymph node` (FMA:5034) abnormality." [HPO:probinson] synonym: "Abnormal lymph node histology" EXACT [] is_a: HP:0100763 ! Abnormality of the lymphatic system [Term] id: HP:0002737 name: Thick skull base xref: UMLS:C1839507 "Thick skull base" is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0002738 name: Hypoplastic frontal sinuses def: "Underdevelopment of `frontal sinus` (FMA:57417)." [HPO:probinson] synonym: "Underdeveloped frontal sinuses" EXACT [] xref: UMLS:C1850969 "Hypoplastic frontal sinuses" is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses [Term] id: HP:0002740 name: Recurrent E. coli infections def: "Increased susceptibility to infections with Escherichia coli, as manifested by recurrent episodes of infection with this agent." [HPO:probinson] synonym: "E coli infections" EXACT [] synonym: "E coli infections, recurrent" EXACT [HPO:skoehler] is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002741 name: Recurrent Serratia marcescens infections def: "Increased susceptibility to Serratia marcescens infections, as manifested by recurrent episodes of Serratia marcescens infection." [HPO:probinson] xref: UMLS:C1096571 "Serratia marcescens infections" is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002742 name: Recurrent Klebsiella infections def: "Increased susceptibility to Klebsiella infections, as manifested by recurrent episodes of Klebsiella infection." [HPO:probinson] synonym: "Klebsiella infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C0022729 "Klebsiella Infections" is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002743 name: Recurrent enteroviral infections def: "Increased susceptibility to enteroviral infections, as manifested by recurrent episodes of enteroviral infection." [HPO:probinson] xref: UMLS:C1843999 "Severe enteroviral infections" is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0002744 name: Bilateral cleft lip and palate def: "Cleft lip and cleft palate affecting both sides of the face." [HPO:probinson] synonym: "Bilateral cleft lip and cleft palate" EXACT [] is_a: HP:0100336 ! Bilateral cleft lip is_a: HP:0100337 ! Bilateral cleft palate [Term] id: HP:0002745 name: Oral leukoplakia def: "A white patch on the oral mucosa that cannot be rubbed off." [HPO:probinson, pmid:17944749] comment: The definition of oral leukoplakia states that the lesion be characterized clinically or histologically as any other condition, and is not associated with any physical or chemical causative agent except tobacco. synonym: "leukokeratosis" EXACT [HPO:SKOEHLER] xref: MeSH:D007972 "Leukoplakia, Oral" xref: UMLS:C0023532 "Leukoplakia, Oral" is_a: HP:0011830 ! Abnormality of oral mucosa [Term] id: HP:0002747 name: Respiratory insufficiency due to muscle weakness alt_id: HP:0004882 alt_id: HP:0004888 synonym: "Decreased respiratory function due to muscle weakness" EXACT [] synonym: "Respiratory distress due to muscle weakness" EXACT [] synonym: "Respiratory failure due to muscle weakness" EXACT [] synonym: "Respiratory muscle weakness" EXACT [] xref: UMLS:C1836141 "Respiratory muscle weakness" is_a: HP:0004347 ! Weakness of muscles of respiration [Term] id: HP:0002748 name: Rickets xref: MeSH:D012279 "Rickets" xref: UMLS:C0035579 "Rickets" is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0002749 name: Osteomalacia def: "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] xref: MeSH:D010018 "Osteomalacia" xref: UMLS:C0029442 "Osteomalacia" is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0002750 name: Delayed skeletal maturation alt_id: HP:0000928 alt_id: HP:0002806 def: "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators] synonym: "Delayed bone age" EXACT [] synonym: "Delayed bone age before puberty" EXACT [] synonym: "Delayed bone maturation" EXACT [] synonym: "Delayed skeletal development" EXACT [] synonym: "Retarded bone age" EXACT [] synonym: "Skeletal maturation retardation" EXACT [] xref: UMLS:C1850086 "Delayed skeletal maturation" is_a: HP:0000927 ! Abnormality of skeletal maturation [Term] id: HP:0002751 name: Kyphoscoliosis alt_id: HP:0003412 alt_id: HP:0003424 alt_id: HP:0004593 alt_id: HP:0005728 def: "An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane." [HPO:probinson] xref: UMLS:C0600033 "Kyphoscoliosis" is_a: HP:0002650 ! Scoliosis is_a: HP:0002808 ! Kyphosis [Term] id: HP:0002752 name: Sparse bone trabeculae xref: UMLS:C1833324 "Sparse bone trabeculae" is_a: HP:0100671 ! Abnormal trabecular bone morphology [Term] id: HP:0002753 name: Thin bony cortex alt_id: HP:0003104 def: "Abnormal thinning of the cortical region of bones." [HPO:curators] synonym: "Thin cortices" EXACT [] xref: UMLS:C1833325 "Thin bony cortex" is_a: HP:0003103 ! Abnormal cortical bone morphology [Term] id: HP:0002754 name: Osteomyelitis def: "An infection of bone." [HPO:probinson] comment: Osteomyelitis can be acute or chronic and can be caused by a variety of microbial agents. xref: MeSH:D010019 "Osteomyelitis" xref: UMLS:C0029443 "Osteomyelitis" is_a: HP:0011843 ! Abnormality of skeletal physiology [Term] id: HP:0002755 name: Osteomyelitis due to immunodeficiency is_a: HP:0002721 ! Immunodeficiency is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0002756 name: Pathologic fracture alt_id: HP:0005633 def: "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] synonym: "Spontaneous fracture" EXACT [] xref: UMLS:C0016663 "Fractures, Pathologic" is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002757 name: Recurrent fractures alt_id: HP:0002660 alt_id: HP:0002767 alt_id: HP:0002809 def: "The repeated occurence of bone fractures (implying an abnormally increased tendency for fracture)." [HPO:curators] comment: This term will be made obsolete. The annotations need to be checked. synonym: "Increased fracture rate" EXACT [] synonym: "Increased fractures" EXACT [] synonym: "Multiple fractures" EXACT [] synonym: "Multiple spontaneous fractures" EXACT [] synonym: "Varying degree of multiple fractures" EXACT [] xref: UMLS:C1838660 "Increased fractures" is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0002758 name: Osteoarthritis alt_id: HP:0002824 alt_id: HP:0005762 xref: MeSH:D010003 "Osteoarthritis" xref: UMLS:C0029408 "Osteoarthritis" is_a: HP:0001369 ! Arthritis [Term] id: HP:0002761 name: Generalized joint laxity def: "Joint hypermobility (ability of a joint to move beyond its normal range of motion) affecting many or all joints of the body." [HPO:curators] xref: UMLS:C1836308 "Generalized joint laxity" is_a: HP:0001382 ! Joint hypermobility [Term] id: HP:0002762 name: Multiple exostoses def: "Presence of more than one exostosis. An exostosis is a benign growth the projects outward from the bone surface. It is cappped by cartilage, and arises from a bone that develops from cartilage." [HPO:probinson] xref: UMLS:C0015306 "Exostoses, Multiple" is_a: HP:0100777 ! Exostoses [Term] id: HP:0002763 name: Abnormal cartilage morphology def: "Any abnormality of cartilage." [HPO:probinson] is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0002764 name: Stippled chondral calcification is_a: HP:0002832 ! Calcific stippling is_a: HP:0100593 ! Calcification of cartilage [Term] id: HP:0002766 name: Relatively short spine is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0002773 name: Small vertebral bodies synonym: "Small vertebrae" EXACT [] xref: UMLS:C1857133 "Small vertebral bodies" is_a: HP:0003312 ! Abnormal form of the vertebral bodies is_a: HP:0008479 ! Hypoplastic vertebral bodies [Term] id: HP:0002777 name: Tracheal stenosis xref: MeSH:D014135 "Tracheal Stenosis" xref: UMLS:C0040583 "Tracheal Stenosis" is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0002778 name: Abnormality of the trachea def: "An anomaly of the `trachea` (FMA:7394)." [HPO:probinson] synonym: "Tracheal disease" RELATED [] is_a: HP:0005607 ! Abnormality of the tracheobronchial system [Term] id: HP:0002779 name: Tracheomalacia xref: MeSH:D055090 "Tracheomalacia" xref: UMLS:C0948187 "Tracheomalacia" is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0002780 name: Bronchomalacia xref: MeSH:D055091 "Bronchomalacia" xref: UMLS:C0340231 "BRONCHOMALACIA" is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0002781 name: Upper airway obstruction def: "Increased resistance to the passage of air in the upper airway." [HPO:probinson] xref: UMLS:C0740852 "Upper airway obstruction" is_a: HP:0002087 ! Abnormality of the upper respiratory tract [Term] id: HP:0002783 name: Recurrent lower respiratory tract infections alt_id: HP:0004884 alt_id: HP:0005955 def: "An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections." [HPO:probinson] synonym: "Chronic lung infections" EXACT [] synonym: "Lower respiratory tract infections" EXACT [] synonym: "Recurrent chest infections" EXACT [] xref: UMLS:C0585953 "Recurrent chest infections" is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0002786 name: Tracheobronchomalacia def: "Weakness of the cartilage in the trachea and the bronchi, resulting in a floppy (non-rigid) airway. Affected persons may have difficulties to maintain patency of the airways." [HPO:probinson] xref: MeSH:D055089 "Tracheobronchomalacia" is_a: HP:0002779 ! Tracheomalacia is_a: HP:0002780 ! Bronchomalacia [Term] id: HP:0002787 name: Tracheal ectopic calcification def: "Calcification (abnormal deposits of calcium) in the tracheal tissues." [HPO:probinson] synonym: "Tracheal calcifications" EXACT [] xref: UMLS:C0264324 "Tracheal calcifications" is_a: HP:0002778 ! Abnormality of the trachea is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0002788 name: Recurrent upper respiratory tract infections alt_id: HP:0001740 alt_id: HP:0002784 def: "An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis)." [HPO:probinson] synonym: "Frequent upper respiratory infections" EXACT [] synonym: "Frequent upper respiratory tract infections" EXACT [] synonym: "Recurrent upper respiratory and lower respiratory infections" EXACT [] synonym: "Recurrent upper respiratory infection" EXACT [] synonym: "Recurrent upper respiratory infections" EXACT [] synonym: "Upper respiratory tract infections" EXACT [] synonym: "Upper respiratory tract infections, recurrent" EXACT [HPO:skoehler] xref: UMLS:C0581381 "Recurrent upper respiratory tract infections" is_a: HP:0001739 ! Abnormality of the nasopharynx is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0002789 name: Tachypnea alt_id: HP:0002874 alt_id: HP:0004346 def: "Very rapid breathing." [HPO:probinson] comment: In adults, a beathing rate of between 12-20 breaths per minute is normal and tachypnea is present with a ventilatory rate greater than 20 breaths per minute. synonym: "Increased respiratory rate or depth of breathing" EXACT [] synonym: "Polypnea" EXACT [] xref: MeSH:D059246 "Tachypnea" xref: UMLS:C0231835 "Increased respiratory rate" xref: UMLS:C1142291 "Polypnea" is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002790 name: Neonatal breathing dysregulation xref: UMLS:C1837722 "Neonatal breathing dysregulation" is_a: HP:0005957 ! Breathing dysregulation [Term] id: HP:0002791 name: Hypoventilation alt_id: HP:0004892 def: "A reduction in the amount of air transported into the pulmonary alveoli by breathing, leading to hypercapnia (increase in the partial pressure of carbon dioxide)." [HPO:probinson] synonym: "Alveolar hypoventilation" EXACT [] xref: MeSH:D007040 "Hypoventilation" xref: UMLS:C0398353 "Hypoventilation" is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002792 name: Reduced vital capacity def: "An abnormal reduction on the vital capacity, which is defined as the total lung capacity (volume of air in the lungs at maximal inflation) less the residual volume (i.e., volume of air in the lungs following maximal exhalation) of the lung." [HPO:probinson] synonym: "Decreased vital capacity" EXACT [] xref: UMLS:C0476408 "Reduced vital capacity" is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002793 name: Abnormal pattern of respiration def: "An anomaly of the rhythm or depth of breathing." [HPO:probinson] synonym: "Abnormal respiratory patterns" EXACT [] xref: UMLS:C1837388 "Abnormal respiratory patterns" is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002795 name: Functional respiratory abnormality comment: This category describes not-primarily structural lesions. is_a: HP:0002086 ! Abnormality of the respiratory system [Term] id: HP:0002797 name: Osteolysis alt_id: HP:0010737 def: "Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium." [HPO:probinson] comment: Osteolysis may be a feature of neoplastic, infectious, metabolis, vascular, and joint disorders and is also a component of many hereditary diseases. Osteolysis may be highly localized or more diffuse. This term is meant to group the more specific osteolysis terms. synonym: "Increased bone resorption" EXACT [HPO:sdoelken] synonym: "Osteolytic defects of bones" EXACT [] xref: MeSH:D010014 "Osteolysis" xref: UMLS:C0029435 "Osteolysis" is_a: HP:0003330 ! Abnormal bone structure [Term] id: HP:0002803 name: Congenital contractures synonym: "Congenital joint contractures" EXACT [] xref: UMLS:C0332878 "Congenital contractures" is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0002804 name: Arthrogryposis multiplex congenita alt_id: HP:0001389 alt_id: HP:0001390 alt_id: HP:0002759 alt_id: HP:0005188 alt_id: HP:0005663 alt_id: HP:0005809 alt_id: HP:0005859 def: "A non-progressive finding characterized by multiple joint contractures found throughout the body at birth." [HPO:probinson] comment: Arthrogryposis multiplex congenita (AMC) is related to fetal akinesia owing to fetal neurogenic, muscle, or connective tissue disorders or occasionally to maternal conditions. AMC can be associated with polyhydramnios, pulmonary hypoplasia, micrognathia, ocular hypertelorism, and short umbilical cord. AMC is a feature of a heterogeneous group of disorders, some of which have the phrase 'arthrogryposis multiplex congenita' as a part of their name (for instance, Arthrogryposis multiplex congenita, distal type 1 or AMCD1). This term refers to the finding of multiple joint contractures found throughout the body at birth rather than to the disease entities of which this is a clinical feature. synonym: "Arthrogryposis" EXACT [] synonym: "Arthrogryposis multiplex" EXACT [] synonym: "Arthrogryposis, congenital" EXACT [] synonym: "Multiple congenital contractures" EXACT [] xref: UMLS:C1832739 "Arthrogryposis multiplex" is_a: HP:0002803 ! Congenital contractures [Term] id: HP:0002805 name: Accelerated bone age after puberty is_a: HP:0005616 ! Accelerated skeletal maturation [Term] id: HP:0002808 name: Kyphosis alt_id: HP:0002769 alt_id: HP:0003314 def: "Exaggerated anterior convexity of the thoracic vertebral column." [HPO:probinson] synonym: "Gibbus deformity" EXACT [] synonym: "Hyperkyphosis" EXACT [] synonym: "Round back" EXACT [] xref: MeSH:D007738 "Kyphosis" xref: UMLS:C0265673 "Kyphosis" xref: UMLS:C1845112 "Hyperkyphosis" is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0002810 name: Dumbbell-shaped metaphyses alt_id: HP:0005079 synonym: "Dumbbell shaped metaphyses" EXACT [] is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0002812 name: Coxa vara def: "Coxa vara includes all forms of decrease of the femoral neck shaft angle (the angle between the neck and the shaft of the femur) to less than 120 degrees." [HPO:probinson] comment: The Latin word 'coxa' refers to the hip, and varus is a term for the inward angulation of the distal segment of a bone or joint. The normal range of the angle between the ball and the shaft of the femur is 120 to 135 degrees. Coxa vara can be congenital, developmental, or acquired. xref: MeSH:D060905 "Coxa vara" xref: UMLS:C0239138 "Coxa vara" is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0002813 name: Abnormality of limb bone morphology def: "Any abnormality of bones of the arms or legs." [HPO:probinson] synonym: "Limb abnormality" EXACT [] is_a: HP:0011844 ! Abnormal appendicular skeleton morphology [Term] id: HP:0002814 name: Abnormality of the lower limb def: "An abnormality of the `leg` (FMA:24979)." [HPO:curators] synonym: "Lower limb deformities" EXACT [] xref: UMLS:C1096086 "Lower limb deformities" is_a: HP:0002813 ! Abnormality of limb bone morphology [Term] id: HP:0002815 name: Abnormality of the knees def: "An abnormality of the knee joint or surrounding structures." [HPO:curators] is_a: HP:0100491 ! Abnormality of the joints of the lower limbs [Term] id: HP:0002816 name: Genu recurvatum synonym: "Genu recurvata" EXACT [] xref: UMLS:C0152235 "Genu recurvatum" is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0002817 name: Abnormality of the upper limb alt_id: HP:0003838 def: "An abnormality of the `arm` (FMA:24890)." [HPO:probinson] is_a: HP:0002813 ! Abnormality of limb bone morphology [Term] id: HP:0002818 name: Abnormality of the radius def: "An abnormality of the `radius` (FMA:23463)." [HPO:probinson] is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0002821 name: Neuropathic arthropathy xref: UMLS:C0003892 "Neuropathic arthropathy" is_a: HP:0003040 ! Arthropathy [Term] id: HP:0002822 name: Hyperplasia of the femoral trochanters synonym: "Hyperplastic femoral trochanters" EXACT [] is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0002823 name: Abnormality of the femur alt_id: HP:0001439 def: "Abnormality of the `femur` (FMA:9611)." [HPO:probinson] comment: The femur (plural: femora) is the thigh bone. synonym: "Abnormality of the femora" EXACT [] is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0002825 name: Caudal appendage def: "The presence of a tail-like skin appendage located adjacent to the sacrum." [HPO:probinson] synonym: "Coccygeal tail" EXACT [] is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0002826 name: Halberd-shaped pelvis is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology [Term] id: HP:0002827 name: Hip dislocation alt_id: HP:0001375 def: "Displacement of the femur from its normal location in the hip joint." [HPO:probinson] synonym: "Dislocated hips" EXACT [] synonym: "Dislocation of hip" EXACT [] synonym: "Hip subluxation" EXACT [] xref: MeSH:D006617 "Hip Dislocation" xref: UMLS:C0434785 "Hip subluxation" is_a: HP:0001373 ! Joint dislocation is_a: HP:0001384 ! Abnormality of the hip joint [Term] id: HP:0002828 name: Multiple joint contractures xref: UMLS:C0158118 "Multiple joint contractures" is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0002829 name: Arthralgia def: "Joint pain." [HPO:probinson] synonym: "Arthralgias" EXACT [] synonym: "Joint pain" EXACT [] xref: MeSH:D018771 "Arthralgia" xref: UMLS:C0003862 "Arthralgia" is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0002831 name: Long coccyx is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0002832 name: Calcific stippling alt_id: HP:0005738 def: "An abnormal punctate (speckled, dot-like) pattern of calcifications in soft tissues within or surrounding bones (as observed on radiographs)." [HPO:curators] synonym: "Discrete calcific stippling" EXACT [] xref: UMLS:C1849993 "Calcific stippling" is_a: HP:0010766 ! Ectopic calcification [Term] id: HP:0002833 name: Cystic angiomatosis of bone def: "Disseminated multifocal hemangiomatous or lymphangiomatous lesions of the skeleton. The lesions are lytic, well-defined, round or oval lesions within the medullary cavity, and they have an intact cortex, and manifest variable peripheral sclerosis and may exhibit endosteal scalloping." [HPO:probinson, pmid:11930062] comment: The term Cystic angiomatosis is used to describe a disease entity that includes cystic angiomatosis of bone and of visceral organs. synonym: "Lytic cystic lesions in appendicular bones" EXACT [] is_a: HP:0012062 ! Bone cyst [Term] id: HP:0002834 name: Flared femoral metaphysis is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0002835 name: Aspiration xref: UMLS:C0700198 "Aspiration" is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002836 name: Bladder exstrophy 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: MeSH:D001746 "Bladder exstrophy" xref: UMLS:C0005689 "Bladder Exstrophy" is_a: HP:0000014 ! Abnormality of the bladder is_a: HP:0100548 ! Exstrophy [Term] id: HP:0002837 name: Recurrent bronchitis alt_id: HP:0002785 def: "An increased susceptibility to bronchitis as manifested by a history of recurrent bronchitis." [HPO:probinson] synonym: "Bronchitis, recurrent" EXACT [HPO:skoehler] xref: UMLS:C0741796 "Recurrent bronchitis" is_a: HP:0002109 ! Abnormality of the bronchi is_a: HP:0002788 ! Recurrent upper respiratory tract infections [Term] id: HP:0002839 name: Urinary bladder sphincter dysfunction alt_id: HP:0000018 def: "Abnormal function of a sphincter of the `urinary bladder` (FMA:15900)." [HPO:probinson] synonym: "Sphincter disturbance" EXACT [] synonym: "Sphincter disturbances" EXACT [] xref: UMLS:C1843663 "Sphincter disturbances" is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0002840 name: Lymphadenitis def: "Inflammation of a `lymph node` (FMA:5034)." [HPO:probinson] xref: MeSH:D008199 "Lymphadenitis" xref: UMLS:C0024205 "Lymphadenitis" is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002841 name: Recurrent fungal infections alt_id: HP:0005350 alt_id: HP:0005380 alt_id: HP:0005388 def: "Increased susceptibility to fungal infections, as manifested by recurrent episodes of fungal infection." [HPO:probinson] is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002842 name: Recurrent Burkholderia cepacia infections def: "Increased susceptibility to infections with Burkholderia cepacia, as manifested by recurrent episodes of infection with this agent." [HPO:probinson] xref: UMLS:C1610617 "Burkholderia cepacia infections" is_a: HP:0005420 ! Recurrent gram-negative bacterial infections [Term] id: HP:0002843 name: Abnormality of T cells alt_id: HP:0002734 def: "An abnormality of `T cells` (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:C1533651 "Cellular immune defect" is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0002845 name: Increased number of peripheral CD3+ T cells is_a: HP:0100828 ! Increase in T cell number [Term] id: HP:0002846 name: Abnormality of B cells def: "An abnormality of `B cells` (CL:0000236)." [HPO:probinson] comment: B-cells are lymphocytes whose principle function in the adaptive immune system is to make antibodies against antigens. is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0002847 name: Impaired memory B-cell generation def: "Impaired production of memory cells, the B-cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge." [HPO:probinson] is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0002848 name: Moderately depressed antibody response to polysaccharide antigens is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0002849 name: Absence of lymph node germinal center 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 [] is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002850 name: IgM deficiency alt_id: HP:0003147 alt_id: HP:0005385 def: "An abnormally decreased level of immunoglobulin IgM in blood." [HPO:probinson] synonym: "Decreased IgM" EXACT [] synonym: "Decreased IgM level" EXACT [] synonym: "Reduced IgM levels" EXACT [] xref: UMLS:C0239989 "Decreased IgM" is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0002851 name: Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors is_a: HP:0100828 ! Increase in T cell number [Term] id: HP:0002853 name: Increased proportion of HLA DR+ and CD57+ T cells is_a: HP:0011839 ! Abnormality of T cell number [Term] id: HP:0002857 name: Genu valgum alt_id: HP:0004999 def: "The legs angle inward, such that the knees are close together and the ankles far apart." [HPO:probinson] synonym: "Genu valga" EXACT [] synonym: "genu valgum or genu varum" EXACT [] synonym: "Genu valgus" EXACT [] synonym: "Genua valga" EXACT [] synonym: "Knock knees" EXACT [] xref: MeSH:D056304 "Genu valgum" xref: UMLS:C0576093 "Genu valgum" is_a: HP:0002815 ! Abnormality of the knees is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0002858 name: Meningioma alt_id: HP:0006754 def: "The presence of a `meningioma` (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: MeSH:D008579 "Meningioma" xref: UMLS:C1762616 "Meningioma" is_a: HP:0100835 ! Benign neoplasm of the central nervous system [Term] id: HP:0002859 name: Rhabdomyosarcoma xref: MeSH:D012208 "Rhabdomyosarcoma" xref: UMLS:C0035412 "Rhabdomyosarcoma" is_a: HP:0009728 ! Neoplasm of striated muscle is_a: HP:0100242 ! Sarcoma [Term] id: HP:0002860 name: Squamous cell carcinoma def: "The presence of `squamous cell carcinoma` (MPATH:446) of the `skin` (FMA:7163)." [HPO:probinson] xref: UMLS:C0007137 "Squamous cell carcinoma" is_a: HP:0008069 ! Neoplasm of the skin [Term] id: HP:0002861 name: Melanoma alt_id: HP:0002887 alt_id: HP:0006777 alt_id: HP:0007474 def: "The presence of a `melanoma` (MPATH:359), a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea)." [HPO:probinson] comment: A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis. synonym: "Malignant melanoma" EXACT [] xref: MeSH:D008545 "Melanoma" xref: UMLS:C0025202 "Malignant Melanoma" is_a: HP:0011792 ! Neoplasm by histology [Term] id: HP:0002862 name: Bladder carcinoma def: "The presence of a `carcinoma` (MPATH:549) of the `urinary bladder` (FMA:15900)." [HPO:probinson] xref: UMLS:C0699885 "BLADDER CARCINOMA" is_a: HP:0009725 ! Bladder neoplasm [Term] id: HP:0002863 name: Myelodysplasia alt_id: HP:0004832 alt_id: HP:0006730 def: "Clonal hematopoietic stem cell disorders characterized by dysplasia (ineffective production) in one or more hematopoietic cell lineages, leading to anemia and cytopenia." [HPO:probinson] synonym: "Hypoplastic myelodysplasia" RELATED [] synonym: "Myelodysplastic syndrome" EXACT [] xref: MeSH:D009190 "Myelodysplastic Syndromes" xref: UMLS:C0026986 "MYELODYSPLASTIC SYNDROME" xref: UMLS:C1851971 "Hypoplastic myelodysplasia" xref: UMLS:C1963099 "Myelodysplasia" is_a: HP:0004377 ! Hematological neoplasm [Term] id: HP:0002864 name: Paraganglioma of head and neck synonym: "Paragangliomas, head and neck " EXACT [] is_a: HP:0002668 ! Paraganglioma [Term] id: HP:0002865 name: Medullary thyroid carcinoma def: "The presence of a `medullary carcinoma` (MPATH:291) of the `thyroid gland` (FMA:9603)." [HPO:probinson] xref: UMLS:C0238462 "Medullary thyroid carcinoma" is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0002866 name: Hypoplastic iliac wings alt_id: HP:0003169 alt_id: HP:0003181 alt_id: HP:0008837 def: "Underdevelopment of the `ilium ala` (FMA:42826)." [HPO:probinson] synonym: "Hypoplastic iliac alae" EXACT [] synonym: "Hypoplastic iliac wing" EXACT [] synonym: "Small iliac wings" EXACT [] xref: UMLS:C1850045 "Hypoplastic iliac wings" is_a: HP:0000946 ! Hypoplastic ilia is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0002867 name: Abnormality of the ilium def: "An abnormality of the `ilium` (FMA:16589), the largest and uppermost bone of the pelvis." [HPO:probinson] synonym: "Iliac abnormalities" EXACT [] is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0002868 name: Narrow iliac wings def: "Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [HPO:probinson] is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0002869 name: Flared iliac wings def: "Widening of the `ilium ala` (FMA:42826), that is of the wing of the ilium, combined with external rotation, leading to a flared appearance of the iliac wing." [HPO:probinson] synonym: "Flared iliac wing" EXACT [] is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0002870 name: Obstructive sleep apnea def: "A condition characterized by obstruction of the airway and by pauses in breathing during sleep occurring many times during the night. Obstructive sleep apnea is related to a relaxation of muscle tone (which normally occurs during sleep) leading to partial collapse of the soft tissues in the airway with resultant obstruction of the air flow." [HPO:probinson] synonym: "Obstructive sleep apnoea" RELATED [] xref: MeSH:D020181 "Sleep Apnea, Obstructive" xref: UMLS:C0520679 "Obstructive sleep apnoea" is_a: HP:0010535 ! Sleep apnea [Term] id: HP:0002871 name: Central apnea def: "Apnea resulting from depression of the respiratory centers in the medulla oblongata. There is a lack of respiratory effort rather than obstruction of airflow." [HPO:curators] synonym: "Central apnoea" EXACT [] xref: UMLS:C0520680 "Central sleep apnoea" is_a: HP:0002104 ! Apnea [Term] id: HP:0002872 name: Apneic episodes precipitated by illness, fatigue, stress def: "Recurrent episodes of apnea that are precipitated by factors such as illness, fatigue, or stress." [HPO:curators] synonym: "Episodic ataxia induced by febrile illness or stress" EXACT [] is_a: HP:0002104 ! Apnea [Term] id: HP:0002875 name: Exertional dyspnea xref: UMLS:C0231807 "Exertional dyspnea" is_a: HP:0002094 ! Dyspnea [Term] id: HP:0002876 name: Episodic tachypnea alt_id: HP:0002881 def: "Episodes of very rapid breathing." [HPO:probinson] synonym: "Hyperpnea, episodic" EXACT [] is_a: HP:0002789 ! Tachypnea [Term] id: HP:0002877 name: Nocturnal hypoventilation xref: UMLS:C1843643 "Nocturnal hypoventilation" is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0002878 name: Early respiratory failure xref: UMLS:C1843642 "Early respiratory failure" is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0002879 name: Anisospondyly def: "Abnormally increased variability of the size of the vertebral bodies." [HPO:probinson] xref: UMLS:C1857101 "Anisospondyly" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0002880 name: Respiratory difficulties xref: UMLS:C0013404 "Breathing Difficulties" is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002882 name: Sudden episodic apnea def: "Recurrent bouts of sudden, severe apnea that may be life-threatening." [HPO:probinson] is_a: HP:0002104 ! Apnea [Term] id: HP:0002883 name: Hyperventilation def: "Hyperventilation refers to an increased pulmonary ventilation rate that is faster than necessary for the exchange of gases. Hyperventilation can result from increased frequency of breathing, an increased tidal volume, or both, and leads to an excess intake of oxygen and the blowing off of carbon dioxide." [HPO:probinson] xref: MeSH:D006985 "Hyperventilation" xref: UMLS:C0020578 "Hyperventilation" is_a: HP:0002793 ! Abnormal pattern of respiration [Term] id: HP:0002884 name: Hepatoblastoma def: "A kind of `neoplasm of the liver` (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: MeSH:D018197 "Hepatoblastoma" xref: UMLS:C0206624 "Hepatoblastoma" is_a: HP:0002896 ! Neoplasm of the liver is_a: HP:0002898 ! Embryonal neoplasm [Term] id: HP:0002885 name: Medulloblastoma def: "A rapidly growing embryonic tumor arising in the posterior part of the `cerebellar vermis` (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: MeSH:D008527 "Medulloblastoma" xref: UMLS:C0025149 "medulloblastoma" is_a: HP:0100836 ! Malignant neoplasm of the central nervous system [Term] id: HP:0002886 name: Vagal paraganglioma synonym: "Glomus vagale paraganglioma" RELATED [] synonym: "Vagal nerve tumors" EXACT [] synonym: "Vagal nerve tumors (glomus vagale)" EXACT [] is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0002888 name: Ependymoma def: "The presence of an `ependymoma` (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: MeSH:D004806 "Ependymoma" xref: UMLS:C0014474 "Ependymoma" is_a: HP:0009733 ! Glioma [Term] id: HP:0002890 name: Thyroid carcinoma def: "The presence of a `carcinoma` (MPATH:549) of the `thyroid gland` (FMA:9603)." [HPO:probinson] xref: UMLS:C0549473 "Thyroid carcinoma" is_a: HP:0100031 ! Neoplasm of the thyroid gland [Term] id: HP:0002891 name: Uterine leiomyosarcoma 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 "Uterine leiomyosarcoma" is_a: HP:0010784 ! Uterine neoplasm is_a: HP:0100243 ! Leiomyosarcoma [Term] id: HP:0002893 name: Pituitary adenoma def: "A benign epithelial tumor derived from intrinsic cells of the adenohypophysis." [DDD:spark] comment: In most cases pituitary adenoma are histologically benign, slow-growing, small neoplasms confined to the sella turcica. Some pituitary adenomas are more aggressive, grow faster, invade surrounding tissues, and cause local symptoms such as visual disturbances, headache, and varying degrees of hypopituitarism. xref: ICD-O:M8272/0 "Pituitary adenoma" xref: UMLS:C0032000 "Pituitary Adenoma" is_a: HP:0011750 ! Neoplasm of the anterior pituitary [Term] id: HP:0002894 name: Neoplasm of the pancreas alt_id: HP:0004511 def: "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:C0235974 "Pancreatic Cancer" is_a: HP:0001732 ! Abnormality of the pancreas is_a: HP:0011793 ! Neoplasm by anatomical site [Term] id: HP:0002895 name: Papillary thyroid carcinoma 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:C0238463 "THYROID PAPILLARY CARCINOMA" is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0002896 name: Neoplasm of the liver def: "The presence of a `neoplasm` (MPATH:218) of the `liver` (FMA:7197)." [HPO:probinson] synonym: "Liver cancer" EXACT [] xref: UMLS:C0279000 "Liver Cancer" is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0007378 ! Neoplasm of the gastrointestinal tract [Term] id: HP:0002897 name: Parathyroid adenoma alt_id: HP:0008257 def: "A benign tumor of the parathyroid gland that can cause hyperparathyroidism." [HPO:probinson] synonym: "Parathyroid adenomas" EXACT [] xref: ICD-10:D35.1 "Benign neoplasm: Parathyroid gland" xref: UMLS:C0262587 "Parathyroid Adenomas" is_a: HP:0100733 ! Neoplasm of the parathyroid gland [Term] id: HP:0002898 name: Embryonal neoplasm synonym: "Embryonal neoplasia" EXACT [] synonym: "Embryonal tumors" EXACT [] xref: UMLS:C0027654 "Embryonal tumors" is_a: HP:0011792 ! Neoplasm by histology [Term] id: HP:0002900 name: Hypokalemia def: "An abnormally decreased `potassium` (CHEBI:29103) concentration in the blood." [HPO:probinson] xref: MeSH:D007008 "Hypokalemia" xref: UMLS:C0020621 "HYPOKALAEMIA" is_a: HP:0011042 ! Abnormality of potassium homeostasis [Term] id: HP:0002901 name: Hypocalcemia def: "An abnormally decreased `calcium` (CHEBI:29108) concentration in the blood." [HPO:curators] synonym: "Hypocalcaemia" EXACT [] xref: MeSH:D006996 "Hypocalcemia" xref: UMLS:C0020598 "HYPOCALCAEMIA" is_a: HP:0004363 ! Abnormality of calcium homeostasis [Term] id: HP:0002902 name: Hyponatremia def: "An abnormally decreased `sodium` (CHEBI:29101) concentration in the blood." [HPO:probinson] xref: MeSH:D007010 "Hyponatremia" xref: UMLS:C0020625 "Hyponatremia" is_a: HP:0010931 ! Abnormality of sodium homeostasis [Term] id: HP:0002904 name: Hyperbilirubinemia def: "An increased amount of `bilirubin` (CHEBI:16990) in the `blood` (FMA:9670)." [HPO:probinson] xref: MeSH:D006932 "Hyperbilirubinemia" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0002905 name: Hyperphosphatemia def: "An abnormally increased `phosphate` (CHEBI:18367) concentration in the `blood` (FMA:9670)." [HPO:gcarletti] xref: MeSH:D054559 "Hyperphosphatemia" xref: UMLS:C0085681 "HYPERPHOSPHATAEMIA" is_a: HP:0100529 ! Abnormality of phosphate homeostasis [Term] id: HP:0002907 name: Microhematuria def: "Microscopic hematuria detected by dipstick or microscopic examination of the urine." [HPO:sdoelken] synonym: "Microscopic hematuria" EXACT [] xref: UMLS:C0239937 "Microscopic haematuria" is_a: HP:0000790 ! Hematuria [Term] id: HP:0002908 name: Conjugated hyperbilirubinemia alt_id: HP:0008351 synonym: "Direct hyperbilirubinemia" EXACT [] xref: UMLS:C1859663 "Direct hyperbilirubinemia" is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0002909 name: Generalized aminoaciduria alt_id: HP:0008284 alt_id: HP:0008317 def: "An increased concentration of all types of `amino acid` (CHEBI:33709 ) in the `urine` (FMA:12274)." [HPO:probinson] comment: This abnormality is distinct from aminoacidurias in which the urinary concentration of a single amino acid, or a of single group of amino acids, is increased. synonym: "Generalized nonspecific aminoaciduria" EXACT [] xref: UMLS:C1847868 "Generalized aminoaciduria" is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0002910 name: Elevated hepatic transaminases alt_id: HP:0001411 alt_id: HP:0003143 alt_id: HP:0003156 alt_id: HP:0003293 alt_id: HP:0006567 alt_id: HP:0006578 alt_id: HP:0008267 alt_id: HP:0008342 def: "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:probinson] synonym: "Abnormal liver enzymes" EXACT [] synonym: "Abnormal liver function" EXACT [] synonym: "Abnormal liver function tests" EXACT [] synonym: "Elevated liver enzymes" EXACT [] synonym: "Elevated liver function tests" RELATED [] synonym: "Elevated serum transaminases" EXACT [] synonym: "Elevated transaminases" EXACT [] synonym: "Increased liver enzymes" EXACT [] synonym: "Increased liver function tests" EXACT [] synonym: "Increased transaminases" EXACT [] synonym: "Subclinical abnormal liver function tests" EXACT [] xref: UMLS:C0151766 "ABNORMAL LIVER FUNCTION TESTS" xref: UMLS:C0235996 "Elevated liver enzymes" xref: UMLS:C0877359 "Elevated liver function tests" xref: UMLS:C1863696 "Elevated serum transaminases" is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0002912 name: Methylmalonic acidemia alt_id: HP:0003123 alt_id: HP:0008295 def: "Increased concentration of `methylmalonic acid` (CHEBI:30860) in the blood." [HPO:probinson] comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. xref: UMLS:C1855119 "Methymalonicaciduria" is_a: HP:0004341 ! Abnormality of the vitamin B12 metabolism is_a: HP:0010995 ! Abnormality of dicarboxylic acid metabolism [Term] id: HP:0002913 name: Myoglobinuria def: "Presence of `myoglobin` (CHEBI:7044) in the urine." [HPO:probinson] comment: Myoglobinuria is usually associated with rhabdomyolysis or muscle destruction. xref: MeSH:D009212 "Myoglobinuria" xref: UMLS:C0027080 "Myoglobinuria" is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0002914 name: Increased urinary chloride def: "An increased concentration of `chloride` (CHEBI:17996) in the `urine` (FMA:12274)." [HPO:probinson] xref: UMLS:C1846352 "Increased urinary chloride" is_a: HP:0011866 ! Abnormal urine anion concentration [Term] id: HP:0002916 name: Abnormality of chromosome segregation def: "An abnormality of `chromosome segregation` (GO:0007059)." [HPO:probinson] is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0002917 name: Hypomagnesemia alt_id: HP:0003284 def: "An abnormally decreased `magnesium` (CHEBI:18420) concentration in the blood." [HPO:probinson] xref: UMLS:C0151723 "HYPOMAGNESAEMIA" xref: UMLS:C1866499 "Occasional hypomagnesemia" is_a: HP:0004921 ! Abnormality of magnesium homeostasis [Term] id: HP:0002918 name: Hypermagnesemia def: "An abnormally increased `magnesium` (CHEBI:18420) concentration in the blood." [HPO:probinson] xref: UMLS:C1522135 "Hypermagnesemia" is_a: HP:0004921 ! Abnormality of magnesium homeostasis [Term] id: HP:0002919 name: Ketonuria def: "High levels of ketone bodies in the urine." [HPO:probinson] synonym: "Ketonaciduria" EXACT [] xref: UMLS:C0162275 "Ketonuria" is_a: HP:0012072 ! Aciduria [Term] id: HP:0002920 name: Decreased circulating ACTH level def: "An `abnormal` (PATO:0000460) reduction in the `concentration` (PATO:0000033) of `corticotropin` (CHEBI:3892), also known as adrenocorticotropic hormone (ACTH), in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C1968856 "Decreased serum ACTH" is_a: HP:0011043 ! Abnormality of circulating adrenocorticotropin level [Term] id: HP:0002921 name: Abnormality of the cerebrospinal fluid def: "An abnormality of the `cerebrospinal fluid (CSF)` (FMA:20935)." [HPO:probinson] comment: The cerebrospinal fluid (CSF) is secreted by the choroid plexus, and flows uninterrupted throughout the central nervous system (the central cerebrospinal canal of the spinal cord and through the four interconnected cerebral ventricles in the brain). synonym: "Abnormal CSF findings" EXACT [] synonym: "Abnormality of the CSF" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002922 name: Increased CSF protein synonym: "Cerebrospinal fluid protein increased" EXACT [] synonym: "Cerebrospinal fluid with increased protein" EXACT [] synonym: "Elevated cerebrospinal fluid protein" EXACT [] synonym: "Elevated csf protein" EXACT [] synonym: "Increased protein in csf" EXACT [] synonym: "Spinal fluid protein elevated" EXACT [] xref: UMLS:C1806780 "Increased CSF protein" is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid [Term] id: HP:0002923 name: Rheumatoid factor positive def: "The presence in the serum of an autoantibody directed against the Fc portion of IgG." [HPO:probinson] xref: MeSH:D012217 "Rheumatoid Factor" xref: UMLS:C0151379 "Rheumatoid factor positive" is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0002924 name: Decreased circulating aldosterone level 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 "Decreased serum aldosterone" is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0002925 name: Thyroid-stimulating hormone excess def: "Overproduction of thyroid-stimulating hormone (TSH) by the anterior pituitary gland." [DDD:spark] synonym: "Elevated thyroid stimulating hormone" EXACT [] synonym: "Elevated thyroid stimulating hormone levels" EXACT [] synonym: "High TSH" EXACT [] synonym: "Increased serum thyroid-stimulating hormone" EXACT [] synonym: "Increased thyroid-stimulating hormone" EXACT [] synonym: "TSH excess" EXACT [] is_a: HP:0010514 ! Hyperpituitarism [Term] id: HP:0002926 name: Abnormality of thyroid physiology def: "An abnormal `functionality` (PATO:0001509) of the `thyroid gland` (FMA:9603)." [HPO:probinson] is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0002927 name: Histidinuria 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 "Histidinuria" 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 synonym: "Pyruvate dehydrogenase complex deficiency" EXACT [] xref: UMLS:C0034345 "Pyruvate dehydrogenase complex deficiency" is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0002929 name: Leydig cell insensitivity to gonadotropin is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0002930 name: Thyroid hormone receptor defect alt_id: HP:0008215 alt_id: HP:0008243 alt_id: HP:0008262 def: "Thyroid hormone resistance because of a defect in the thyroid hormone receptor." [DDD:spark] synonym: "End-organ unresponsiveness to thyroid hormone" EXACT [] synonym: "Resistance to thyroid hormone" EXACT [] synonym: "Thyroid hormone resistance" EXACT [] xref: UMLS:C0242604 "Thyroid Hormone Resistance" is_a: HP:0002926 ! Abnormality of thyroid physiology [Term] id: HP:0002932 name: Aldehyde oxidase deficiency def: "A reduction in `aldehyde oxidase activity` (GO:0004031)." [HPO:probinson] comment: Aldehyde oxidase generates carboxylic acids from aldehydes. is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism [Term] id: HP:0002933 name: Ventral hernia def: "Ventral hernia refers to a condition in which abdominal contents protrude through a weakened portion of the abnominal wall." [HPO:probinson] xref: MeSH:D006555 "Hernia, Ventral" xref: UMLS:C0019326 "Ventral Hernia" is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0002936 name: Distal sensory impairment alt_id: HP:0003476 alt_id: HP:0006843 alt_id: HP:0006845 alt_id: HP:0006922 alt_id: HP:0006971 alt_id: HP:0006993 alt_id: HP:0007138 alt_id: HP:0007292 alt_id: HP:0007296 def: "An abnormal reduction in sensation in the distal portions of the extremities." [HPO:probinson] synonym: "Decreased distal sensation" EXACT [] synonym: "Distal sensation loss" EXACT [] synonym: "Distal sensory impairment in lower limbs" EXACT [] synonym: "Distal sensory impairment of the lower extremities" EXACT [] synonym: "Distal sensory loss" EXACT [] synonym: "Distal sensory loss, upper and lower limbs" EXACT [] synonym: "Loss of distal sensation" EXACT [] xref: UMLS:C1836340 "Distal sensory impairment" is_a: HP:0003474 ! Sensory impairment [Term] id: HP:0002937 name: Hemivertebrae def: "Absence of one half of the vertebral body." [HPO:probinson] comment: Lateral hemivertebrae represent a developmental defect resulting from the failure of the contralateral chondral center to develop. Dorsal hemivertebrae result from a developmental defect in which the anterior chondral centers fail to develop, and ventral hemivertebrae result from failure of the posterior centers to ossify. The affected half of the vertebral body may by hypoplastic or absent, as is the pedicle, and (for thoracic vetebrae) the corresponding rib. The affected half of the vertebral body may also show a fusion or segmentation defect. synonym: "Hemivertebra" EXACT [] xref: UMLS:C0265677 "Hemivertebrae" is_a: HP:0003312 ! Abnormal form of the vertebral bodies is_a: HP:0003422 ! Vertebral segmentation defect [Term] id: HP:0002938 name: Lumbar hyperlordosis alt_id: HP:0002941 alt_id: HP:0004560 alt_id: HP:0004574 alt_id: HP:0004596 def: "An abnormal accentuation of the inward curvature of the spine in the lumbar region." [HPO:probinson] synonym: "Exaggerated lumbar lordosis" EXACT [] synonym: "Increased lumbar lordosis" EXACT [] synonym: "Lumbar lordosis" EXACT [] synonym: "Prominent lumbar lordosis" EXACT [] xref: UMLS:C1836585 "Lumbar hyperlordosis" is_a: HP:0003307 ! Hyperlordosis [Term] id: HP:0002942 name: Thoracic kyphosis def: "Over curvature of the thoracic region, leading to a round back or if sever to a hump." [HPO:probinson] synonym: "Accentuated thoracic kyphosis" EXACT [] synonym: "Exaggerated thoracic kyphosis" EXACT [] xref: UMLS:C1184919 "Thoracic kyphosis" is_a: HP:0002808 ! Kyphosis is_a: HP:0100711 ! Abnormality of the thoracic spine [Term] id: HP:0002943 name: Thoracic scoliosis alt_id: HP:0004615 xref: UMLS:C1857790 "Thoracic scoliosis" is_a: HP:0002650 ! Scoliosis is_a: HP:0100711 ! Abnormality of the thoracic spine [Term] id: HP:0002944 name: Thoracolumbar scoliosis alt_id: HP:0004567 alt_id: HP:0004585 synonym: "Scoliosis, thoracolumbar" EXACT [] xref: UMLS:C0749379 "Thoracolumbar scoliosis" is_a: HP:0002650 ! Scoliosis [Term] id: HP:0002945 name: Intervertebral space narrowing def: "`Decreased height` (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 [] is_a: HP:0005108 ! Abnormality of the intervertebral disk [Term] id: HP:0002946 name: Supernumerary vertebrae xref: UMLS:C0265681 "Supernumerary vertebrae" is_a: HP:0003468 ! Abnormality of the vertebrae is_a: HP:0009144 ! Supernumerary bones of the axial skeleton [Term] id: HP:0002947 name: Cervical kyphosis def: "Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance." [HPO:probinson] xref: UMLS:C0575170 "Cervical kyphosis" is_a: HP:0002808 ! Kyphosis is_a: HP:0005905 ! Abnormal cervical curvature [Term] id: HP:0002948 name: Vertebral fusion alt_id: HP:0002807 alt_id: HP:0008471 alt_id: HP:0008485 def: "A developmental defect leading to the union of two adjacent vertebrae." [HPO:curators] synonym: "Fused vertebrae" EXACT [] synonym: "Fusion of vertebral bodies" EXACT [] synonym: "Spinal fusion" EXACT [] synonym: "Vertebral body fusion" EXACT [] xref: MeSH:D013123 "Spinal Fusion" xref: UMLS:C1851715 "Vertebral fusion" is_a: HP:0003468 ! Abnormality of the vertebrae is_a: HP:0100240 ! Synostosis of joints [Term] id: HP:0002949 name: Fused cervical vertebrae synonym: "Cervical vertebral fusion" EXACT [] synonym: "Fusion of cervical vertebrae" EXACT [] xref: UMLS:C0022738 "CERVICAL VERTEBRA FUSION" xref: UMLS:C1846468 "Fused cervical vertebrae" is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0002951 name: Partial absence of cerebellar vermis def: "Congenital absence of a part of the `vermis of cerebellum` (FMA:76928)." [HPO:probinson] is_a: HP:0006817 ! Aplasia/Hypoplasia of the cerebellar vermis [Term] id: HP:0002953 name: Vertebral compression fractures synonym: "Fractures of vertebral bodies" EXACT [] synonym: "Vertebral body compression" EXACT [] synonym: "Vertebral collapse" EXACT [] synonym: "Vertebral compression" EXACT [] synonym: "Vertebral compression or collapse" EXACT [] xref: UMLS:C1853165 "Vertebral compression fractures" is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0002955 name: Granulomatosis def: "Formation of multiple granulomas, i.e., localized nodular foci inflammation." [HPO:probinson, pmid:937513] comment: This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). is_a: HP:0004311 ! Abnormality of macrophages [Term] id: HP:0002958 name: Immune dysregulation xref: UMLS:C1844666 "Immune dysregulation" is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002959 name: Impaired Ig class switch recombination def: "An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE." [HPO:probinson, pmid:11544001] comment: The generation of the antibody repertoire requires two successive steps. The first is antigen- and T-cell-independent; it takes place in the fetal liver and the bone marrow. Immature B lymphocytes rearrange their immunoglobulin-gene variable segments (V segments), diversity segments (D segments) and joining segments (J segments), producing a functionally integrated VDJ segment linked to the mu constant region (C-mu), which determines the primary antibody repertoire composed of IgM antibodies. The second step is antigen- and T-cell-dependent and takes place in secondary lymphoid organs. After encountering antigen, B cells proliferate and form germinal centers. In this unique anatomic formation, two genetic events lead to generation of the secondary antibody repertoire: class-switch recombination (CSR) and somatic hypermutation (SHM). CSR of immunoglobulins occurs by a recombination process between two different switch regions (S regions) located upstream of each C region. Replacement of C-mu by a constant region of another class of immunoglobulin (C-gamma, C-alpha or C-epsilon) ensues and leads to the production of IgG, IgA or IgE. synonym: "Impaired B-lymphocyte isotype switching" EXACT [] synonym: "Impaired Ig class-switch recombination (CSR)" EXACT [] is_a: HP:0005372 ! Abnormality of B cell physiology [Term] id: HP:0002960 name: Autoimmunity def: "The occurrence of an immune reaction against the organisms own cells or tissues." [HPO:probinson] synonym: "Autoimmune disease" EXACT [] synonym: "Autoimmune disorders" EXACT [] xref: MeSH:D015551 "Autoimmunity" xref: UMLS:C0004364 "Autoimmune disease" is_a: HP:0010978 ! Abnormality of immune system physiology [Term] id: HP:0002961 name: Dysgammaglobulinemia def: "Selective deficiency of one or more, but not all, classes of immunoglobulins." [HPO:probinson] xref: MeSH:D004406 "Dysgammaglobulinemia" xref: UMLS:C0013374 "Dysgammaglobulinaemia" is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0002963 name: Abnormal delayed hypersensitivity skin test def: "Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter." [HPO:probinson] comment: This is an immune function test measuring the presence of activated T cells that recognize a certain substance. xref: UMLS:C1833172 "Abnormal delayed hypersensitivity skin test" is_a: HP:0011840 ! Abnormality of T cell physiology [Term] id: HP:0002965 name: Cutaneous anergy alt_id: HP:0005427 def: "Inability to react to a delayed hypersensitivity skin test." [HPO:probinson] comment: Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected. synonym: "Absence of delayed hypersensitivity skin test" EXACT [] synonym: "Lack of delayed skin hypersensitivity reaction" EXACT [] is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0002967 name: Cubitus valgus comment: Abnormality in which the elbows are turned out. xref: UMLS:C0265611 "Cubitus valgus" is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0002970 name: Genu varum alt_id: HP:0003052 def: "A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together." [HPO:probinson] synonym: "Bow legs" EXACT [] synonym: "Bow-leggedness" EXACT [] synonym: "Genu vara" EXACT [] synonym: "Genua vara" EXACT [] xref: MeSH:D056305 "Genu varum" xref: UMLS:C1836312 "Genua vara" is_a: HP:0002815 ! Abnormality of the knees is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0002971 name: Absent microvilli on the surface of peripheral blood lymphocytes is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0002972 name: Reduced delayed hypersensitivity alt_id: HP:0005434 def: "Decreased ability to react to a delayed hypersensitivity skin test." [HPO:probinson] synonym: "Decreased reactivity to skin test antigens" EXACT [] synonym: "Deficiency of delayed skin hypersensitivity" EXACT [] synonym: "Impaired delayed hypersensitivity" EXACT [] is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0002973 name: Abnormality of the forearm def: "An abnormality of the lower arm." [HPO:curators] is_a: HP:0002817 ! Abnormality of the upper limb [Term] id: HP:0002974 name: Radioulnar synostosis alt_id: HP:0003962 def: "An abnormal osseous union (fusion) between the radius and the ulna." [HPO:curators] synonym: "Fused forearm bones" EXACT [] xref: UMLS:C0158761 "Radioulnar synostosis" is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0002977 name: Aplasia/Hypoplasia involving the central nervous system alt_id: HP:0001323 synonym: "Brain atrophy" RELATED [] is_a: HP:0007319 ! Morphological abnormality of the central nervous system created_by: peter creation_date: 2008-03-31T05:13:00Z [Term] id: HP:0002979 name: Bowing of the legs alt_id: HP:0006428 def: "A bending or abnormal curvature affecting a `long bone` (FMA:7474) of the leg." [HPO:probinson] synonym: "Bowed legs" EXACT [] synonym: "Bowed lower limbs" EXACT [] 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 alt_id: HP:0004998 def: "Bowing (abnormal curvature) of the `femur` (FMA:9611)." [HPO:probinson] xref: UMLS:C1837080 "Femoral bowing" 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 def: "An abnormality of the `calf` (FMA:24984), i.e. of the posterior part of the lower leg." [HPO:probinson] is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0002982 name: Tibial bowing alt_id: HP:0006363 def: "A bending or abnormal curvature of the `tibia` (FMA:24476)." [HPO:probinson] comment: A developmental defect with posteromedial tibial angulation. synonym: "Bowed tibia" EXACT [] synonym: "Bowing of the tibia" EXACT [] xref: UMLS:C1837081 "Tibial bowing" is_a: HP:0002979 ! Bowing of the legs is_a: HP:0002992 ! Abnormality of the tibia [Term] id: HP:0002983 name: Micromelia alt_id: HP:0003030 def: "The presence of abnormally small extremities." [HPO:probinson] xref: UMLS:C0025995 "Micromelia" is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0002984 name: Hypoplasia of the radius alt_id: HP:0002995 alt_id: HP:0004989 alt_id: HP:0005014 alt_id: HP:0005081 alt_id: HP:0005714 alt_id: HP:0006418 def: "Underdevelopment of the radius." [HPO:probinson] synonym: "Hypoplastic radii" EXACT [] synonym: "Hypoplastic radius" EXACT [] synonym: "Radial hypoplasia" EXACT [] synonym: "Radial ray hypoplasia" RELATED [] synonym: "Short radii" EXACT [] synonym: "Short radius" EXACT [] synonym: "Shortening of radius" EXACT [] xref: UMLS:C1401779 "Short radii" xref: UMLS:C1840087 "Radial ray hypoplasia" is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius is_a: HP:0009821 ! Hypoplasia involving forearm bones [Term] id: HP:0002986 name: Radial bowing alt_id: HP:0004996 def: "A bending or abnormal curvature of the `radius` (:FMA:23463)." [HPO:probinson] synonym: "Bowed radii" EXACT [] synonym: "Bowed radius" EXACT [] xref: UMLS:C1865846 "Radial bowing" is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003956 ! Bowed forearm bones [Term] id: HP:0002987 name: Elbow flexion contracture alt_id: HP:0003937 alt_id: HP:0004984 alt_id: HP:0005654 def: "A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow." [HPO:probinson] synonym: "Contractures of elbows" EXACT [] synonym: "Contractures of the elbows" EXACT [] synonym: "Elbow contracture" EXACT [] synonym: "Elbow contractures" EXACT [] synonym: "Elbow flexion contractures" EXACT [] synonym: "Elbow flexion deformity" EXACT [] xref: UMLS:C0409338 "Elbow flexion contractures" is_a: HP:0002996 ! Limited elbow movement is_a: HP:0100360 ! Contractures of the joints of the upper limbs [Term] id: HP:0002990 name: Fibular aplasia alt_id: HP:0006373 def: "Absence of the fibula." [HPO:curators] synonym: "Absent fibulae" EXACT [] synonym: "Absent-hypoplastic fibulae" EXACT [] xref: UMLS:C1836186 "Fibular aplasia" is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula [Term] id: HP:0002991 name: Abnormality of the fibula is_a: HP:0002981 ! Abnormality of the calf [Term] id: HP:0002992 name: Abnormality of the tibia def: "Abnormality of the tibia (shinbone)." [HPO:curators] is_a: HP:0002981 ! Abnormality of the calf [Term] id: HP:0002996 name: Limited elbow movement alt_id: HP:0006395 synonym: "Decreased elbow mobility" EXACT [] synonym: "Limited elbow mobility" EXACT [] synonym: "Restricted elbow motion" EXACT [] xref: UMLS:C1846014 "Limited elbow movement" is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0002997 name: Abnormality of the ulna def: "Ab abnormality of the ulna bone of the forearm." [HPO:curators] is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0002999 name: Patellar dislocation def: "The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove." [HPO:probinson] synonym: "Dislocated patellae" EXACT [] synonym: "Dislocation of patella" EXACT [] xref: MeSH:D031222 "Patellar Dislocation" xref: UMLS:C1135812 "Patellar Dislocation" is_a: HP:0003045 ! Abnormality of the patella [Term] id: HP:0003001 name: Glomus jugular tumor synonym: "Glomus jugulare tumor" EXACT [] synonym: "Glomus jugulare tumors" EXACT [] xref: MeSH:D005925 "Glomus Jugulare Tumor" xref: UMLS:C1854342 "Glomus jugular tumors" is_a: HP:0002864 ! Paraganglioma of head and neck [Term] id: HP:0003002 name: Breast carcinoma def: "The presence of a `carcinoma` (MPATH:549) of the `breast` (FMA:9601)." [HPO:probinson] synonym: "Breast cancer" EXACT [] xref: UMLS:C0006142 "Breast Cancer" is_a: HP:0100013 ! Neoplasm of the breast [Term] id: HP:0003003 name: Colon cancer alt_id: HP:0006718 xref: UMLS:C0007102 "colon cancer" is_a: HP:0100273 ! Neoplasm of the colon [Term] id: HP:0003005 name: Ganglioneuroma def: "A benign neoplasm that usually arises from the sympathetic trunk in the mediastinum, representing a tumor of the sympathetic nerve fibers arising from neural crest cells." [HPO:probinson] comment: Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system. xref: MeSH:D005729 "Ganglioneuroma" xref: UMLS:C0017075 "Ganglioneuroma" is_a: HP:0004376 ! Neuroblastic tumors [Term] id: HP:0003006 name: Neuroblastoma alt_id: HP:0006738 def: "Neuroblastoma is a solid tumor that originate in neural crest cells of the sympathetic nervous system. Most neuroblastomas originate in the abdomen, and most abdominal neuroblastomas originate in the adrenal gland. Neuroblastomas can also originate in the thorax, usually in the posterior mediastinum." [HPO:probinson] xref: MeSH:D009447 "Neuroblastoma" xref: UMLS:C0700095 "Neuroblastoma" is_a: HP:0004376 ! Neuroblastic tumors [Term] id: HP:0003009 name: Enhanced neurotoxicity of vincristine is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003010 name: Prolonged bleeding time alt_id: HP:0008294 alt_id: HP:0008337 def: "Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding." [DDD:mumford] comment: The bleeding time test measures the time taken for blood vessel constriction and platelet plug formation to occur. No clot is allowed to form, so that the arrest of bleeding depends exclusively on blood vessel constriction and platelet action. To perform the test, pressure is maintained throughout the test by inflating a sphygmomanometer cuff on the upper arm. The dorsal surface of the forearm is then cleaned, and the bleeding time device placed onto the skin and the trigger is depressed. At 30-second intervals, the flow of blood is blotted with filter paper. The time from puncture to cessation of bleeding is then recorded as the bleeding time. Normal values depend on the device used and other parameters, but are around 2 to 9 minutes. synonym: "Increased bleeding time" EXACT [] xref: UMLS:C0151529 "Bleeding time prolonged" is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0003011 name: Abnormality of the musculature alt_id: HP:0003197 alt_id: HP:0003708 def: "Abnormality originating in one or more muscles, i.e., of the `set of muscles of body` (FMA:72954)." [HPO:probinson] synonym: "Muscular abnormality" EXACT [] xref: UMLS:C1843699 "Merosin-positive biopsy" is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0003013 name: Bulging epiphyses def: "A morphological abnormality of epiphyses whereby they are abnormally outwardly curving (protuberant)." [HPO:probinson] xref: UMLS:C1833329 "'Bulging' epiphyses" is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003015 name: Flared metaphyses alt_id: HP:0003047 alt_id: HP:0004994 alt_id: HP:0005015 alt_id: HP:0005095 alt_id: HP:0200002 def: "The presence of splayed (i.e.,flared) metaphyseal segments of the long bones." [HPO:probinson, pmid:12853662] comment: Figure 11 of pmid:12853662 shows metaphyseal flaring. synonym: "Flared, widened metaphyses" EXACT [] synonym: "marked metaphyseal flaring of long bones" EXACT [] synonym: "Metaphyseal flaring" EXACT [] synonym: "Metaphyseal flaring of long bones" EXACT [] synonym: "Metaphyseal splaying" EXACT [] synonym: "Splayed metaphyses" EXACT [] xref: UMLS:C1850135 "Splayed metaphyses" xref: UMLS:C1859139 "Metaphyseal splaying" is_a: HP:0003016 ! Metaphyseal widening [Term] id: HP:0003016 name: Metaphyseal widening alt_id: HP:0005074 def: "Abnormal widening of the metaphyseal regions of long bones." [HPO:probinson] synonym: "Wide metaphyses" EXACT [] synonym: "Widened long bone metaphyses" EXACT [] synonym: "Widened metaphyses" EXACT [] xref: UMLS:C1855248 "Metaphyseal widening" is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003017 name: Frayed, irregular metaphyses synonym: "Frayed, irregular, metaphyses" EXACT [] is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0003019 name: Abnormality of the wrist 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 [] is_a: HP:0009810 ! Abnormality of the joints of the upper limbs [Term] id: HP:0003020 name: Enlargement of the wrists is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003021 name: Metaphyseal cupping def: "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:probinson] xref: UMLS:C1837082 "Metaphyseal cupping" is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003022 name: Hypoplasia of the ulna alt_id: HP:0002998 alt_id: HP:0005842 alt_id: HP:0006388 alt_id: HP:0006444 def: "Underdevelopment of the `ulna` (FMA:23466)." [HPO:curators] synonym: "Hypoplastic ulna" EXACT [] synonym: "Short ulna" EXACT [] synonym: "Short ulnae" EXACT [] synonym: "Ulnar hypoplasia" EXACT [] xref: UMLS:C1860614 "ULNAR HYPOPLASIA" 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 def: "Curvature of the shafts of the long bones due to multiple fractures." [HPO:curators] synonym: "Bowed limbs due to multiple fractures" EXACT [] is_a: HP:0002659 ! Increased susceptibility to fractures [Term] id: HP:0003025 name: Irregular metaphyses alt_id: HP:0004995 alt_id: HP:0005016 alt_id: HP:0005032 alt_id: HP:0005038 alt_id: HP:0005058 alt_id: HP:0005062 alt_id: HP:0005065 alt_id: HP:0005078 alt_id: HP:0005896 def: "Irregularity of the normally smooth surface of the metaphyses." [HPO:probinson] synonym: "Metaphyseal irregularities" EXACT [] synonym: "Metaphyseal irregularity" EXACT [] xref: UMLS:C1846448 "Irregular metaphyses" is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003026 name: Short long bones alt_id: HP:0000949 alt_id: HP:0004983 alt_id: HP:0004988 alt_id: HP:0005000 alt_id: HP:0005029 alt_id: HP:0005044 alt_id: HP:0005052 alt_id: HP:0005077 alt_id: HP:0005083 alt_id: HP:0005647 alt_id: HP:0005822 alt_id: HP:0006382 alt_id: HP:0006457 alt_id: HP:0006472 def: "One or more abnormally short `long bone` (FMA:7474)." [HPO:probinson] comment: Long bones are also known as tubular bones. synonym: "Long bone shortening" EXACT [] synonym: "Short tubular bones" EXACT [] synonym: "shortened long tubular bones" EXACT [] xref: UMLS:C1854912 "Short long bones" xref: UMLS:C1856470 "Shortened long tubular bones" is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0003027 name: Mesomelia def: "Shortening of the middle parts of the limbs (forearm and lower leg) in relation to the upper and terminal segments." [HPO:sdoelken] comment: Shortening of the limbs where the predominant shortness is in the middle bones. synonym: "Mesomelic limb shortening" EXACT [] synonym: "Mesomelic shortening of limbs" EXACT [] synonym: "Symmetric mesomelic limb shortness" EXACT [] xref: UMLS:C0549306 "Mesomelia" is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0003028 name: Abnormality of the ankles is_a: HP:0100491 ! Abnormality of the joints of the lower limbs [Term] id: HP:0003029 name: Enlargement of the ankles is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0003031 name: Ulnar bowing alt_id: HP:0003983 def: "Bending of the diaphysis (shaft) of the `ulna`(FMA:23466)." [HPO:probinson] comment: Ulnar bowing is usually in the convex posterior direction. synonym: "Bowed ulna" EXACT [] synonym: "Curved ulna" EXACT [] xref: UMLS:C1865847 "Ulnar bowing" is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003956 ! Bowed forearm bones [Term] id: HP:0003034 name: Diaphyseal sclerosis xref: UMLS:C0011989 "Diaphyseal sclerosis" is_a: HP:0000940 ! Abnormal diaphysis morphology is_a: HP:0011001 ! Increased bone mineral density [Term] id: HP:0003037 name: Enlarged joints xref: UMLS:C1859111 "Enlarged Joints" is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0003038 name: Fibular hypoplasia alt_id: HP:0002985 alt_id: HP:0005887 alt_id: HP:0006401 def: "Underdevelopment of the fibula." [HPO:curators] synonym: "Hypoplastic fibula" EXACT [] synonym: "Short fibula" EXACT [] synonym: "Short fibulae" EXACT [] xref: UMLS:C1837833 "Fibular hypoplasia" is_a: HP:0003026 ! Short long bones is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula [Term] id: HP:0003040 name: Arthropathy xref: UMLS:C0022408 "Arthropathy" is_a: HP:0001367 ! Abnormal joint morphology [Term] id: HP:0003041 name: Humeroradial synostosis alt_id: HP:0003936 def: "An abnormal osseous union (fusion) between the radius and the humerus." [HPO:sdoelken] synonym: "Humeral radial synostosis" EXACT [] synonym: "Humeral-radial synostosis" EXACT [] synonym: "Radiohumeral synostosis of elbow" EXACT [] synonym: "Synostosis of radius and humerus" EXACT [] xref: UMLS:C1835477 "Humeral-radial synostosis" is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003938 ! Synostosis involving the elbow is_a: HP:0100744 ! Abnormality of the humeroradial joint [Term] id: HP:0003042 name: Elbow dislocation alt_id: HP:0006411 def: "Dislocation of the distal humerus out of the elbow joint, where the radius, ulna, and humerus meet." [HPO:probinson] synonym: "Dislocations of the elbows" EXACT [] synonym: "Elbow dislocations" EXACT [] synonym: "Radiocapitellar dislocation" EXACT [] synonym: "Radiohumeral dislocation" EXACT [] synonym: "Ulnohumeral dislocation" EXACT [] xref: UMLS:C0149977 "ELBOW DISLOCATION" xref: UMLS:C1403299 "Radiohumeral dislocation" is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003043 name: Abnormality of the shoulder def: "An abnormality of the shoulder, which is defined as the structures surrounding the shoulder joint where the humerus attaches to the scapula." [HPO:curators] is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0011844 ! Abnormal appendicular skeleton morphology [Term] id: HP:0003044 name: Shoulder flexion contracture def: "Chronic reduction in active and passive mobility of the shoulder joint due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement." [HPO:probinson] xref: UMLS:C1848475 "Shoulder contractures" is_a: HP:0003043 ! Abnormality of the shoulder is_a: HP:0100360 ! Contractures of the joints of the upper limbs [Term] id: HP:0003045 name: Abnormality of the patella def: "Abnormality of the patella (knee cap)." [HPO:curators] synonym: "Patellar abnormality" EXACT [] is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0003048 name: Radial head subluxation def: "Partial dislocation of the head of the radius." [HPO:curators] synonym: "Radial subluxation" EXACT [] synonym: "Radial-head subluxation" EXACT [] xref: UMLS:C1840308 "Radial subluxation" is_a: HP:0003042 ! Elbow dislocation [Term] id: HP:0003049 name: Ulnar deviation of the wrist synonym: "Ulnar deviation of wrists" EXACT [] is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003051 name: Enlarged metaphyses alt_id: HP:0005018 def: "Abnormal increase in size of one or more metaphyses." [HPO:probinson] xref: UMLS:C1855544 "Enlarged metaphyses" is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003053 name: Epiphyseal deformities of tubular bones is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0003057 name: Tetraamelia def: "`Amelia` (HP:0009827) of all four limbs." [HPO:sdoelken] synonym: "Tetra-amelia" EXACT [HPO:sdoelken] xref: UMLS:C1848875 "Tetra-amelia" is_a: HP:0009827 ! Amelia [Term] id: HP:0003059 name: Abnormality of the radioulnar joints is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003063 name: Abnormality of the humerus alt_id: HP:0002988 def: "An abnormality of the humerus (i.e., upper arm bone)." [HPO:curators] synonym: "Abnormality of the humeri" EXACT [] is_a: HP:0001454 ! Abnormality of the upper arm [Term] id: HP:0003065 name: Patellar hypoplasia alt_id: HP:0005020 def: "Underdevelopment of the patella." [HPO:curators] synonym: "Hypoplastic patellae" EXACT [] synonym: "Small patella" EXACT [] synonym: "Small patellae" EXACT [] xref: UMLS:C1868579 "Patellar hypoplasia" is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella [Term] id: HP:0003066 name: Limited knee extension xref: UMLS:C1844690 "Limited knee extension" is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0003067 name: Madelung deformity synonym: "Madelung wrist deformity" EXACT [] is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003068 name: Madelung-like forearm deformities xref: UMLS:C0041784 "FOREARM DEFORMITY NOS" is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003070 name: Elbow ankylosis xref: UMLS:C0856459 "Elbow ankylosis" is_a: HP:0001376 ! Limitation of joint mobility is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003071 name: Flattened epiphyses alt_id: HP:0004982 alt_id: HP:0005051 alt_id: HP:0005076 alt_id: HP:0005080 def: "Abnormal flatness (decreased height) of epiphyses." [HPO:probinson] synonym: "Flat epiphyses" EXACT [] xref: UMLS:C1857527 "Flattened epiphyses" is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0003072 name: Hypercalcemia def: "An abnormally increased `calcium` (CHEBI:29108) concentration in the blood." [HPO:curators] synonym: "Hypercalcaemia" EXACT [] xref: MeSH:D006934 "Hypercalcemia" xref: UMLS:C0020437 "HYPERCALCAEMIA" is_a: HP:0004363 ! Abnormality of calcium homeostasis [Term] id: HP:0003073 name: Hypoalbuminemia def: "Reduction in the concentration of `albumin` (PR:000003918) in the `blood` (FMA:9670)." [HPO:probinson] synonym: "Hypoalbuminaemia" EXACT [] xref: MeSH:D034141 "Hypoalbuminemia" xref: UMLS:C0239981 "Hypoalbuminaemia" is_a: HP:0012116 ! Abnormal albumin level [Term] id: HP:0003074 name: Hyperglycemia def: "An `increased concentration` (PATO:0001162) of `glucose` (CHEBI:17234) in the `blood` (FMA:9670)." [HPO:probinson] xref: MeSH:D006943 "Hyperglycemia" xref: UMLS:C0020456 "Hyperglycemia" is_a: HP:0011015 ! Abnormality of blood glucose concentration [Term] id: HP:0003075 name: Hypoproteinemia def: "A `decreased concentration` (PATO:0001163) of `protein` (CHEBI:36080) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: MeSH:D007019 "Hypoproteinemia" xref: UMLS:C0020639 "Hypoproteinemia" is_a: HP:0010876 ! Abnormality of circulating protein level [Term] id: HP:0003076 name: Glycosuria 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: MeSH:D006029 "Glycosuria" xref: UMLS:C0017979 "Glucosuria" is_a: HP:0011016 ! Abnormality of urine glucose concentration [Term] id: HP:0003077 name: Hyperlipidemia alt_id: HP:0008159 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: MeSH:D006949 "Hyperlipidemias" xref: UMLS:C0020473 "Hyperlipidaemia" is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0003079 name: Defective DNA repair after ultraviolet radiation damage is_a: HP:0003254 ! Abnormality of DNA repair [Term] id: HP:0003080 name: Hydroxyprolinuria def: "An increased concentration of `4-hydroxy-L-proline` (CHEBI:18240) the `urine` (FMA:12274)." [HPO:gcarletti] synonym: "Elevated urinary hydroxyproline" EXACT [] xref: UMLS:C0948585 "Hydroxyprolinuria" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010907 ! Abnormality of proline metabolism [Term] id: HP:0003081 name: Increased urinary potassium def: "An increased concentration of `potassium(1+)` (CHEBI:29103) in the `urine` (FMA:12274)." [HPO:probinson] xref: UMLS:C1846351 "Increased urinary potassium" is_a: HP:0011865 ! Abnormal urine cation concentration [Term] id: HP:0003083 name: Dislocated radial head alt_id: HP:0002975 alt_id: HP:0005673 alt_id: HP:0005836 def: "A dislocation of the head of the radius from its socket in the elbow joint." [HPO:curators] synonym: "Congenital radial head dislocation" EXACT [] synonym: "Dislocated radius" EXACT [] synonym: "Dislocation of radial head" EXACT [] synonym: "Dislocation of the radial head" EXACT [] synonym: "Radial dislocation" EXACT [] synonym: "Radial head dislocation" EXACT [] synonym: "Radial head dislocation/subluxation" EXACT [] xref: UMLS:C1833143 "Dislocated radial head" is_a: HP:0003042 ! Elbow dislocation is_a: HP:0003995 ! Abnormality of the radial head is_a: HP:0100744 ! Abnormality of the humeroradial joint [Term] id: HP:0003084 name: Fractures of the long bones alt_id: HP:0005847 def: "An increased tendency to fractures of the long bones (Mainly, the femur, tibia, fibula,humerus, radius, and ulna)." [HPO:curators] synonym: "Increased long bone fracture rate" EXACT [] is_a: HP:0002757 ! Recurrent fractures is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0003085 name: Disproportionately long fibulae synonym: "Disproportionately long fibula" EXACT [] xref: UMLS:C1848109 "Disproportionately long fibulae" is_a: HP:0002991 ! Abnormality of the fibula [Term] id: HP:0003086 name: Acromesomelia xref: UMLS:C1864365 "Acromesomelia" is_a: HP:0003027 ! Mesomelia [Term] id: HP:0003088 name: Premature osteoarthritis synonym: "Premature arthritis" EXACT [] xref: UMLS:C1859110 "Premature osteoarthritis" is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0003089 name: Hamstring contractures xref: UMLS:C0410266 "Hamstring contractures" is_a: HP:0005750 ! Contractures of the joints of the lower limbs [Term] id: HP:0003090 name: Hypoplasia of the capital femoral epiphysis alt_id: HP:0003374 alt_id: HP:0008791 alt_id: HP:0008792 def: "Underdevelopment of the `proximal epiphysis of the femur` (FMA:32841)." [HPO:probinson] synonym: "Small capital femoral epiphyses" EXACT [] synonym: "Small femoral capital epiphyses" EXACT [] synonym: "Small proximal femoral epiphyses" EXACT [] xref: UMLS:C1846846 "Small proximal femoral epiphyses" is_a: HP:0005003 ! Aplasia/Hypoplasia of the capital femoral epiphysis [Term] id: HP:0003091 name: Trophic limb changes def: "`Trophic changes` (HP:0010834) occuring in a limb." [HPO:probinson] is_a: HP:0010834 ! Trophic changes related to pain [Term] id: HP:0003093 name: Limited hip extension alt_id: HP:0008810 def: "Limitation of the extension of the hip, i.e., decreased ability to straighten the hip joint and thereby increase the angle between torso and thigh; moving the thigh or top of the pelvis backward." [HPO:probinson] comment: Reduced ability to straighten out the femur. synonym: "Restricted hip extension" EXACT [] is_a: HP:0002996 ! Limited elbow movement is_a: HP:0008800 ! Limited hip movement [Term] id: HP:0003095 name: Septic arthritis xref: MeSH:D001170 "Arthritis, Infectious" xref: UMLS:C0003874 "Septic arthritis" is_a: HP:0001369 ! Arthritis [Term] id: HP:0003097 name: Short femur alt_id: HP:0009749 def: "An abnormal shortening of the `femur` (FMA:9611)." [HPO:probinson] synonym: "Femoral hypoplasia" EXACT [] synonym: "Hypoplasia of the femora" EXACT [] synonym: "Short femurs" EXACT [] xref: UMLS:C1397248 "Short femora" is_a: HP:0005613 ! Aplasia/hypoplasia of the femur [Term] id: HP:0003099 name: Fibular overgrowth def: "Relatively increased growth of the fibula compared to that of the tibia." [HPO:probinson, pmid:17259417] xref: UMLS:C1864298 "Fibular overgrowth" is_a: HP:0002991 ! Abnormality of the fibula [Term] id: HP:0003100 name: Slender long bone alt_id: HP:0003060 alt_id: HP:0003061 alt_id: HP:0003096 alt_id: HP:0005064 def: "Reduced diameter of a `long bone` (FMA:7474)." [HPO:probinson] synonym: "Gracile long bones" EXACT [] synonym: "Long bones slender" EXACT [] synonym: "Slender, gracile long tubular bones" EXACT [] synonym: "Thin gracile long bones" RELATED [] synonym: "Thin long bones" EXACT [] synonym: "Thin, gracile long bones" EXACT [] xref: UMLS:C1856235 "Thin gracile long bones" xref: UMLS:C1865250 "Thin long bones" is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0003102 name: Increased carrying angle def: "An abnormal increase in the carrying angle, which is the angle he long axis of the extended forearm as it lies lateral to the long axis of the arm." [HPO:probinson, pmid:18506557] comment: Anatomically, the carrying angle in human adults is approximately 10 degrees in men and 13 degrees in women. Increasing the carrying angle may lead to elbow instability and pain during exercise or in throwing activities of sports, may reduce function of elbow flexion, predispose to risk of elbow dislocation, and increase evidence of elbow fracture when falling on the outstretched hand and fracture of the distal humeral epiphysis. is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003103 name: Abnormal cortical bone morphology def: "An abnormality of `compact bone` (FMA:24018) (also known as cortical bone), which forms the dense surface of bones." [HPO:sdoelken] synonym: "Abnormal compact bone morphology" EXACT [] synonym: "Abnormality of cortical bone" EXACT [] is_a: HP:0003330 ! Abnormal bone structure [Term] id: HP:0003105 name: Protuberances at ends of long bones def: "The presence of multiple protuberances (bulges, or knobs) at the ends of the `long bones` (FMA:7474)." [HPO:probinson] is_a: HP:0011314 ! Abnormality of long bone morphology [Term] id: HP:0003106 name: Subperiosteal erosions due to secondary hyperparathyroidism is_a: HP:0002813 ! Abnormality of limb bone morphology [Term] id: HP:0003107 name: Abnormality of cholesterol metabolism is_a: HP:0003119 ! Abnormality of lipid metabolism created_by: peter creation_date: 2008-03-17T01:02:00Z [Term] id: HP:0003108 name: Hyperglycinuria alt_id: HP:0002931 def: "An increased concentration of `glycine` (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:C1853747 "Hyperglycinuria" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010895 ! Abnormality of glycine metabolism [Term] id: HP:0003109 name: Hyperphosphaturia alt_id: HP:0003266 def: "An increased excretion of phosphates in the urine." [HPO:curators] synonym: "Phosphaturia" EXACT [] xref: UMLS:C0268079 "Hyperphosphaturia" is_a: HP:0011866 ! Abnormal urine anion concentration [Term] id: HP:0003110 name: Abnormality of urine homeostasis def: "An abnormality of the composition of urine or the levels of its components." [HPO:probinson] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis is_a: HP:0011277 ! Abnormality of the urinary system physiology [Term] id: HP:0003111 name: Abnormality of ion homeostasis alt_id: HP:0003253 def: "Abnormality of the homeostasis (concentration) of a `monoatomic ion` (CHEBI:24867)." [HPO:probinson] synonym: "Electrolyte disorders" EXACT [] xref: UMLS:C1704431 "Electrolyte disorders" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003112 name: Abnormality of serum amino acid levels def: "The presence of an abnormal decrease or increase of one or more amino acids in the blood circulation." [HPO:curators] is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0003113 name: Hypochloremia def: "An abnormally decreased `chloride` (CHEBI:17996) concentration in the blood." [HPO:probinson] xref: UMLS:C0085680 "HYPOCHLORAEMIA" is_a: HP:0011422 ! Abnormality of chloride homeostasis [Term] id: HP:0003114 name: Abnormal cardiological findings comment: Consider abnormality of the cardiovascular system, HP:0001626. is_obsolete: true [Term] id: HP:0003115 name: Abnormal EKG xref: UMLS:C0522055 "Abnormal EKG" is_a: HP:0011025 ! Abnormality of cardiovascular system physiology [Term] id: HP:0003116 name: Abnormal echocardiogram xref: UMLS:C0476369 "Abnormal echocardiogram" is_a: HP:0001627 ! Abnormality of the heart [Term] id: HP:0003117 name: Abnormality of circulating hormone level def: "An `abnormal` (PATO:0000460) `concentration` (PATO:0000033) of a `hormone` (CHEBI:24621) in the `blood` (FMA:9670)." [HPO:probinson] is_a: HP:0000818 ! Abnormality of the endocrine system [Term] id: HP:0003118 name: Increased circulating cortisol level def: "Abnormally increased concentration of `cortisol` (CHEBI:17650) in the blood." [HPO:probinson] xref: UMLS:C0241003 "Increased serum cortisol" is_a: HP:0011731 ! Abnormality of circulating cortisol level [Term] id: HP:0003119 name: Abnormality of lipid metabolism 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. synonym: "Dyslipidemia" RELATED [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003121 name: Limb joint contracture alt_id: HP:0005631 alt_id: HP:0005839 def: "A contrqacture (chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin) that prevent normal movement of one or more joints of the limbs." [HPO:probinson] synonym: "Limb contractures" EXACT [] xref: UMLS:C1969879 "Limb contractures" is_a: HP:0001371 ! Flexion contracture [Term] id: HP:0003124 name: Hypercholesterolemia alt_id: HP:0008154 alt_id: HP:0008173 alt_id: HP:0008359 def: "An increased concentration of `cholesterol` (CHEBI:16113) in the `blood` (FMA:9670)." [HPO:gcarletti] synonym: "Elevated serum cholesterol" EXACT [] synonym: "Elevated total cholesterol" EXACT [] synonym: "Increased total cholesterol" EXACT [] xref: MeSH:D006937 "Hypercholesterolemia" xref: UMLS:C1522133 "Hypercholesterolemia" is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003125 name: Reduced factor VIII activity alt_id: HP:0008349 alt_id: HP:0008355 def: "Reduced activity of `coagulation factor VIII` (PR:000007302). Factor VIII (fVIII) is a cofactor in the intrinsic clotting cascade that is activated to fVIIIa in the presence of minute quantities of thrombin. fVIIIa acts as a receptor, for factors IXa and X." [HPO:probinson] synonym: "Factor VIII deficiency" RELATED [] xref: UMLS:C0019069 "Factor VIII Deficiency" is_a: HP:0010989 ! Abnormality of the intrinsic pathway [Term] id: HP:0003126 name: Low-molecular-weight proteinuria xref: UMLS:C1839606 "Low-molecular-weight proteinuria" is_a: HP:0000093 ! Proteinuria [Term] id: HP:0003127 name: Hypocalciuria def: "An abnormally decreased `calcium` (CHEBI:29108) concentration in the urine (FMA:12274)." [HPO:probinson] xref: UMLS:C0020599 "Hypocalciuria" is_a: HP:0004363 ! Abnormality of calcium homeostasis is_a: HP:0011280 ! Abnormality of urine calcium concentration [Term] id: HP:0003128 name: Lactic acidosis alt_id: HP:0003255 alt_id: HP:0005960 def: "An abnormal buildup of `lactic acid` (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 acidemia" EXACT [] synonym: "Lacticacidemia" EXACT [] synonym: "Lacticacidosis" EXACT [] xref: MeSH:D000140 "Acidosis, Lactic" xref: UMLS:C1855560 "Lacticacidemia" is_a: HP:0001941 ! Acidosis [Term] id: HP:0003130 name: Abnormal peripheral myelination alt_id: HP:0003408 def: "An abnormality of the myelination of peripheral neuronal axons and dendrites." [DDD:fmunitoni] comment: This finding may be observed upon biopsy of the sural nerve. Myelination, i.e., the presence of a segmented lipid-rich sheath (myelin), enables faster and more energetically efficient conduction of electrical impulses. The sheath is formed by the cell membranes of Schwann cells in the peripheral nervous system (GO:0022011). xref: UMLS:C1843178 "Thin myelin sheaths" is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003131 name: Cystinuria def: "An increased concentration of `cystine` (CHEBI:17376) in the `urine` (FMA:12274)." [HPO:gcarletti] comment: Cystine is a sulfur-containing amino acid. xref: MeSH:D003555 "Cystinuria" xref: UMLS:C0010691 "Cystinuria" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010918 ! Abnormality of cysteine metabolism [Term] id: HP:0003133 name: Abnormality of the spinocerebellar tracts def: "An abnormality of the spinocerebellar tracts, a set of axonal fibers originating in the spinal cord and terminating in the ipsilateral cerebellum. The spinocerebellar tract convey information to the cerebellum about limb and joint position (proprioception). They comprise the ventral spinocerebellar tract (FMA:72642), the anterior spinocerebellar tract (FMA:72642), and the posterior spinocerebellar tract (FMA:72641)." [HPO:probinson] is_a: HP:0002143 ! Abnormality of the spinal cord [Term] id: HP:0003134 name: Abnormality of peripheral nerve conduction alt_id: HP:0006832 alt_id: HP:0007186 def: "An abnormality of the conduction of electrical impulses by peripheral (motor or sensory) nerves. This finding is elicited by a nerve conduction study (NCS)." [HPO:probinson] comment: A nerve conduction study (NCS) is commonly conducted together with electromyography in order to evaluate muscle disorders. For the NCS, dermal electrodes are placed at intervals over the nerve to be examined, and a low-intensity current is introducted to generate action potentials. The velocity of the action potential is related to the diameter of the nerve fiber and the presence of a myelin sheath. Diseases of the myelin sheath characteristically reduce the nerve conduction velocity (NCV). The amplitude of the response is also measured. synonym: "Sensory and motor nerve conduction abnormalities" EXACT [] is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003137 name: Prolinuria 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 "Prolinuria" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0010907 ! Abnormality of proline metabolism [Term] id: HP:0003138 name: Increased blood urea nitrogen (BUN) 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 "Increased blood urea nitrogen" is_a: HP:0002157 ! Azotemia [Term] id: HP:0003139 name: Panhypogammaglobulinemia synonym: "Panypogammaglobulinemia" EXACT [] xref: UMLS:C1849243 "Panypogammaglobulinemia" is_a: HP:0004313 ! Hypogammaglobulinemia [Term] id: HP:0003140 name: T-wave inversion in the right precordial leads is_a: HP:0010872 ! EKG: T-wave inversion [Term] id: HP:0003141 name: Hyperbetalipoproteinemia alt_id: HP:0008343 def: "An elevated concentration of `low-density lipoprotein cholesterol` (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:C0549399 "Increased LDL cholesterol" is_a: HP:0010980 ! Hyperlipoproteinemia [Term] id: HP:0003142 name: Excessive purine production is_a: HP:0004368 ! Increased purine levels [Term] id: HP:0003144 name: Increased serum serotonin def: "A `increased concentration` (PATO:0001162) of `serotonin` (CHEBI:28790) in the `blood` (FMA:9670)." [HPO:probinson] is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003145 name: Decreased adenosylcobalamin def: "Decreased concentration of `adenosylcobalamin` (CHEBI:18408). Adenosylcobalamin is one of the active forms of vitamin B12." [HPO:probinson] synonym: "Decreased adenosylcobalamin (ADOCBL)" EXACT [] is_a: HP:0004341 ! Abnormality of the vitamin B12 metabolism [Term] id: HP:0003146 name: Hypocholesterolemia def: "An decreased concentration of `cholesterol` (CHEBI:16113) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C0151718 "HYPOCHOLESTEROLAEMIA" is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003148 name: Elevated serum acid phosphatase comment: Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme. synonym: "Acid phosphatase elevated" EXACT [] xref: UMLS:C1839866 "Elevated serum acid phosphatase" is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003149 name: Hyperuricosuria def: "An abnormally high level of `uric acid` (CHEBI:27226) in the `urine` (FMA:12274)." [HPO:probinson] xref: UMLS:C0948643 "Hyperuricosuria" is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0004368 ! Increased purine levels [Term] id: HP:0003150 name: Glutaric aciduria def: "An increased concentration of `glutaric acid` (CHEBI:17859) in the `urine` (FMA:12274)." [HPO:gcarletti] synonym: "Glutaricaciduria" EXACT [] xref: UMLS:C0268594 "Glutaric aciduria" is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0003152 name: Increased serum 1,25-dihydroxyvitamin D3 is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003153 name: Cystathioninuria def: "An elevated urinary concentration of `cystathionine` (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 "Cystathioninuria" is_a: HP:0003355 ! Aminoaciduria is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism [Term] id: HP:0003154 name: Increased circulating ACTH level def: "An `abnormal` (PATO:0000460) increased in the `concentration` (PATO:0000033) of `corticotropin` (CHEBI:3892), also known as adrenocorticotropic hormone (ACTH), in the `blood` (FMA:9670)." [HPO:probinson] synonym: "Increased plasma acth" EXACT [] xref: UMLS:C1846285 "Elevated plasma ACTH" is_a: HP:0011043 ! Abnormality of circulating adrenocorticotropin level [Term] id: HP:0003155 name: Elevated alkaline phosphatase alt_id: HP:0002911 alt_id: HP:0003636 alt_id: HP:0008296 def: "Abnormally increased serum levels of `alkaline phosphatase activity` (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:C0151849 "Elevated alkaline phosphatase" is_a: HP:0004379 ! Abnormality of alkaline phosphatase activity [Term] id: HP:0003157 name: Progressive axonal neuropathy with demyelinization on electroneurography is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003158 name: Hyposthenuria def: "An abnormally low urinary specific gravity, i.e., reduced concentration of solutes in the urine." [HPO:probinson] comment: Hyposthenuria may occur with impaired renal concentrating power or upon abnormally low hormonal stimulation, as in diabetes insipidus. xref: UMLS:C0232831 "Hyposthenuria" is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003159 name: Hyperoxaluria def: "Increased excretion of oxalates in the urine." [HPO:probinson] xref: MeSH:D006959 "Hyperoxaluria" xref: UMLS:C0020500 "Hyperoxaluria" is_a: HP:0011866 ! Abnormal urine anion concentration [Term] id: HP:0003160 name: Abnormal isoelectric focusing of serum transferrin synonym: "Abnormal isoelectric focusing of serum transferring" EXACT [] synonym: "Abnormal transferrin isoelectric focusing" EXACT [] is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003161 name: 4-Hydroxyphenylpyruvic aciduria def: "Increased concentration of `(4-hydroxyphenyl)pyruvic acid` (CHEBI:15999) in the urine." [HPO:probinson] synonym: "Hydroxyphenylpyruvic aciduria" EXACT [] xref: UMLS:C0278026 "Aciduria" is_a: HP:0010996 ! Abnormality of monocarboxylic acid metabolism [Term] id: HP:0003162 name: Fasting hypoglycemia xref: UMLS:C0271708 "Fasting Hypoglycemia" is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003163 name: Elevated urinary delta-aminolevulinic acid def: "An increased concentration of 5-aminolevulinic acid (CHEBI:17549) in the `urine` (FMA:12274)." [HPO:probinson] comment: Delta-aminolevulinic acid synthesis is a rate-controlling step in heme synthesis. xref: UMLS:C1848702 "Elevated urinary delta-aminolevulinic acid" is_a: HP:0010472 ! Abnormality of the heme biosynthetic pathway [Term] id: HP:0003164 name: Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency is_a: HP:0003117 ! Abnormality of circulating hormone level is_a: HP:0012285 ! Abnormal hypothalamus physiology [Term] id: HP:0003165 name: Elevated circulating parathyroid hormone (PTH) level def: "An abnormal increased concentration of parathyroid hormone." [HPO:probinson] synonym: "Elevated serum parathyroid hormone" EXACT [] synonym: "Elevated serum parathyroid hormone level" EXACT [] synonym: "Elevated serum pth" EXACT [] synonym: "Increased serum parathyroid hormone" EXACT [] xref: UMLS:C0857973 "Increased serum parathyroid hormone" is_a: HP:0003117 ! Abnormality of circulating hormone level is_a: HP:0100530 ! Abnormality of calcium-phosphate metabolism [Term] id: HP:0003166 name: Increased urinary taurine def: "Increased concentration of `taurine` (CHEBI:15891) in the `urine` (FMA:12274)." [HPO:probinson] is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003167 name: Carnosinuria def: "An increased concentration of `carnosine` (CHEBI:15727) in the `urine` (FMA:12274)." [HPO:probinson] comment: Carnosine is the N-(beta-alanyl) derivative of L-histidine. xref: UMLS:C0268632 "Carnosinuria" is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003168 name: Dibasicaminoaciduria is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003170 name: Abnormality of the acetabulum def: "An abnormality of the acetabulum, i.e., the `Acetabular part of hip bone` (FMA:16579), which together with the head of the femur forms the hip joint." [HPO:probinson] synonym: "Acetabular abnormality" EXACT [] is_a: HP:0001384 ! Abnormality of the hip joint [Term] id: HP:0003172 name: Abnormality of the pubic bones is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0003173 name: Hypoplastic pubic bones synonym: "Hypoplastic pubic bone" EXACT [] synonym: "Hypoplastic pubis" EXACT [] xref: UMLS:C1865030 "Hypoplastic pubic bones" is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone [Term] id: HP:0003174 name: Abnormality of the ischium def: "An anomaly of the `ischium` (FMA:16592), which forms the lower and back part of the hip bone." [HPO:probinson] comment: The ischium, together with the ilium and the pubis, forms the hip bone (os coxae). synonym: "Abnormality of the ischial bones" EXACT [] is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0003175 name: Hypoplastic ischia def: "Underdevelopment of the `ischium` (FMA:16592), which forms the lower and back part of the hip bone." [HPO:probinson] synonym: "Hypoplastic ischial bones" EXACT [] synonym: "Hypoplastic ischii" EXACT [] synonym: "Hypoplastic ischium" EXACT [] xref: UMLS:C1860206 "Hypoplastic ischia" is_a: HP:0003174 ! Abnormality of the ischium [Term] id: HP:0003177 name: Squared iliac bones def: "A shift from the normally round (convex) appearance of the iliac wing towards a square-like appearance." [HPO:probinson] synonym: "Square iliac bones" EXACT [] synonym: "Squaring of iliac bones" EXACT [] xref: UMLS:C1838186 "Square iliac bones" is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0003179 name: Protrusio acetabuli def: "Intrapelvic bulging of the medial acetabular wall." [HPO:probinson] comment: Protrusion of the acetabulum, which is the socket that together with the head of the femur forms the hip joint. The protrusion is the result of increased depth of the socket and results in medial displacement of the femoral head. synonym: "Protrusio acetabulae" EXACT [] xref: UMLS:C0409495 "Protrusio acetabuli" is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003180 name: Flat acetabular roof alt_id: HP:0003171 alt_id: HP:0008832 alt_id: HP:0008834 def: "Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does." [HPO:probinson] synonym: "Flat acetabular roofs" EXACT [] synonym: "Flattened acetabular roof" EXACT [] synonym: "Horizontal acetabulae" EXACT [] synonym: "Horizontal acetabular roof" EXACT [] synonym: "Horizontal acetabular roofs" EXACT [] xref: UMLS:C1836867 "Horizontal acetabular roof" xref: UMLS:C1865029 "Flattened acetabular roof" is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003182 name: Shallow acetabular fossae synonym: "Shallow acetabula" EXACT [] synonym: "Shallow acetabulae" EXACT [] synonym: "Shallow acetabular fossa" EXACT [] synonym: "Shallow acetabulum" EXACT [] xref: UMLS:C1854910 "Shallow acetabular fossae" is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003183 name: Wide pubic symphysis def: "Abnormally increased width of the pubic symphysis is the midline cartilaginous joint uniting the superior rami of the left and right pubic bones." [HPO:curators] xref: UMLS:C1857190 "Wide pubic symphysis" is_a: HP:0003172 ! Abnormality of the pubic bones [Term] id: HP:0003184 name: Decreased hip abduction def: "Reduced ability to move the femur outward to the side." [HPO:probinson] synonym: "Limited hip abduction" EXACT [] xref: UMLS:C1836589 "Decreased hip abduction" is_a: HP:0008800 ! Limited hip movement [Term] id: HP:0003185 name: Small sacroiliac notches synonym: "Shortened sacroiliac notches" EXACT [] xref: UMLS:C1861219 "Small sacroiliac notches" is_a: HP:0002867 ! Abnormality of the ilium is_a: HP:0005107 ! Abnormality of the sacrum [Term] id: HP:0003186 name: Inverted nipples def: "The presence of nipples that instead of pointing outward are retracted inwards." [HPO:sdoelken] synonym: "Invaginated nipples" EXACT [HPO:curators] xref: UMLS:C0269269 "Inverted nipples" is_a: HP:0004404 ! Abnormality of the nipple [Term] id: HP:0003187 name: Breast hypoplasia alt_id: HP:0000784 def: "Underdevelopment of the `breast` (FMA:9601)." [HPO:probinson] synonym: "Underdeveloped breasts" EXACT [] xref: UMLS:C0266013 "Breast hypoplasia" is_a: HP:0010311 ! Aplasia/Hypoplasia of the breasts [Term] id: HP:0003189 name: Long nose alt_id: HP:0005283 def: "Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base." [pmid:19152422] xref: UMLS:C1839798 "Long nose" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0003191 name: Notched nasal alae xref: UMLS:C1844537 "Notched nasal alae" is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0003193 name: Allergic rhinitis xref: UMLS:C0002103 "Allergic rhinitis NOS" is_a: HP:0002257 ! Chronic rhinitis is_a: HP:0100326 ! Immunologic hypersensitivity [Term] id: HP:0003194 name: Short nasal bridge xref: UMLS:C1854689 "Short nasal bridge" is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0003196 name: Short nose alt_id: HP:0000440 alt_id: HP:0000449 alt_id: HP:0000450 alt_id: HP:0003192 alt_id: HP:0003195 alt_id: HP:0005270 def: "Distance from nasion to subnasale more than two standard deviations below the mean, or alternatively, an apparently decreased length from the nasal root to the nasal tip." [HPO:probinson, pmid:19152422] comment: Note: a small nose has both decreased height and a decreased width. These should be coded separately. synonym: "Hypoplastic nose" EXACT [] synonym: "Nasal hypoplasia" EXACT [] synonym: "Small nose" RELATED [] xref: UMLS:C1844856 "Nasal hypoplasia" is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0003198 name: Myopathy alt_id: HP:0003569 alt_id: HP:0003705 alt_id: HP:0003742 alt_id: HP:0003802 def: "A disorder of muscle unrelated to impairment of innervation or neuromuscular junction." [HPO:probinson] comment: The diagnosis of myopathy is often confirmed on the basis of myopathic changes in muscle biopsy. synonym: "Myopathic changes" EXACT [] xref: UMLS:C0026848 "Myopathy" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003199 name: Decreased muscle mass alt_id: HP:0003732 synonym: "Underdeveloped muscles" EXACT [] xref: UMLS:C1837466 "Decreased muscle mass" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003200 name: Ragged-red muscle fibers def: "An abnormal appearance of muscle fibers observed on muscle biopsy. Ragged red fibers can be visualized with Gomori trichrome staining as irregular and intensely red subsarcolemmal zones, whereas the normal myofibrils are green. The margins of affect fibers appear red and ragged." [HPO:probinson] comment: This finding is demonstrated by muscle biopsy. synonym: "Ragged-red fibers" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003201 name: Rhabdomyolysis def: "Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream." [HPO:probinson] xref: MeSH:D012206 "Rhabdomyolysis" xref: UMLS:C0035410 "Rhabdomyolysis" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003202 name: Amyotrophy alt_id: HP:0001299 alt_id: HP:0003545 alt_id: HP:0003671 alt_id: HP:0003702 alt_id: HP:0003746 alt_id: HP:0006995 alt_id: HP:0007171 alt_id: HP:0007356 alt_id: HP:0009010 alt_id: HP:0009048 alt_id: HP:0100868 def: "The presence of skeletal muscular atrophy (which is also known as amyotrophy)." [HPO:probinson] synonym: "Amyotrophy involving the extremities" EXACT [] synonym: "Muscle atrophy" EXACT [] synonym: "Muscle atrophy, neurogenic" EXACT [] synonym: "Muscle hypotrophy" EXACT [] synonym: "Muscle wasting" EXACT [] synonym: "Muscular atrophy" EXACT [] synonym: "Neurogenic muscle atrophy" EXACT [] synonym: "Neurogenic muscle atrophy, especially in the lower limbs" EXACT [] synonym: "Neurogenic muscular atrophy" EXACT [] synonym: "Skeletal muscle atrophy" EXACT [] xref: MeSH:D009133 "Muscular Atrophy" xref: UMLS:C0026846 "Amyotrophy" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003203 name: Negative nitroblue tetrazolium (NBT) reduction test def: "In the NBT test, neutrophils change the colorless compound NBT into a compound with a deep blue color. If this test is negative (i.e., no blue color is produced), then this indicates a defect in `superoxide-generating NADPH oxidase activity` (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. is_a: HP:0011993 ! Impaired neutrophil bactericidal activity [Term] id: HP:0003204 name: Intracellular accumulation of autofluorescent lipopigment storage material def: "The intracellular accumulation of autofluorescent storage material." [HPO:probinson, pmid:16455164] comment: Accumulation of intracellular autofluorescent material or aging pigment has been characterized as a normal aging event. Lipofuscin (from the Greek word for fat and the Latin word for dark), refers to intracellular autofluorescent material that accumulates in aging cells with a excitation wavelength between 320 and 480 nm and an emission wavelength between 460 and 630 nm. Lpofuscin consists of a mixture of oxidized proteins and lipids, carbohydrates and trace amount of metals. Ceroid iss a lipofuscin-like lipopigment that arises from pathological conditions such as disease, malnutrition, and cell stress. Subunit c of mitochondrial ATP synthase makes up approximately 40% of this lipopigment/ceroid accumulation. is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0003205 name: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material def: "An `intracellular accumulation of autofluorescent lipopigment storage material` (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:C1866287 "'Curvilinear profiles' ultrastructurally" is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003206 name: Decreased activity of NADPH oxidase is_a: HP:0004358 ! Abnormality of superoxide metabolism [Term] id: HP:0003207 name: Arterial calcification def: "Calcification affecting arteries." [HPO:curators] xref: UMLS:C1168153 "Arterial calcification" is_a: HP:0004934 ! Vascular calcification is_a: HP:0011004 ! Abnormality of the systemic arterial tree created_by: peter creation_date: 2008-03-26T04:05:00Z [Term] id: HP:0003208 name: Fingerprint intracellular accumulation of autofluorescent lipopigment storage material def: "An `intracellular accumulation of autofluorescent lipopigment storage material` (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 [] is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003209 name: Decreased pyruvate carboxylase activity 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 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 [] is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism [Term] id: HP:0003212 name: Increased IgE level alt_id: HP:0005382 alt_id: HP:0005418 alt_id: HP:0005433 def: "An abnormally increased level of immunoglobulin E in blood." [HPO:probinson] synonym: "Elevated immunoglobulin E" EXACT [] synonym: "Elevated serum IgE" EXACT [] synonym: "High immunoglobulin E" EXACT [] xref: UMLS:C1839165 "Elevated serum IgE" is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0003213 name: Deficient excision of UV-induced pyrimidine dimers in DNA is_a: HP:0003254 ! Abnormality of DNA repair is_a: HP:0004353 ! Abnormality of pyrimidine metabolism [Term] id: HP:0003214 name: Prolonged G2 phase of cell cycle is_a: HP:0011018 ! Abnormality of the cell cycle [Term] id: HP:0003215 name: Dicarboxylic aciduria def: "An increased concentration of `dicarboxylic acid` (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 "Dicarboxylic aciduria" is_a: HP:0010995 ! Abnormality of dicarboxylic acid metabolism is_a: HP:0012072 ! Aciduria [Term] id: HP:0003216 name: Generalized amyloid deposition 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 "Generalized amyloid deposition" is_a: HP:0011034 ! Amyloidosis [Term] id: HP:0003217 name: Hyperglutaminemia 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 "High plasma glutamine" is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010903 ! Abnormality of glutamine metabolism [Term] id: HP:0003218 name: Oroticaciduria 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 "Oroticaciduria" is_a: HP:0001941 ! Acidosis is_a: HP:0010928 ! Abnormality of orotic acid metabolism [Term] id: HP:0003219 name: Ethylmalonic aciduria 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 "Ethylmalonic aciduria" is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0003220 name: Abnormality of chromosome stability alt_id: HP:0002915 alt_id: HP:0008307 def: "A type of chromosomal aberration characterized by an increased susceptibility to chromosomal breakage induced by treatment of cultured lymphocytes with agents such as chemical mutagens, irradiation, and alkylating agents." [HPO:probinson] synonym: "Chromosome breakage" EXACT [] synonym: "High frequency of chromosome breaks in lymphocytes" EXACT [] synonym: "Increased chromosomal breakage" EXACT [] synonym: "Increased chromosomal breakage rate" EXACT [] synonym: "Increased chromosome breakage" EXACT [] synonym: "Multiple chromosomal breaks" EXACT [] synonym: "Tendency to chromosomal breakage" EXACT [] xref: UMLS:C1859424 "Increased chromosomal breakage" is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0003221 name: Chromosomal breakage induced by crosslinking agents def: "Increased amount of chromosomal breaks in cultured blood lymphocytes or other cells induced by treatment with DNA cross-linking agents such as diepoxybutane and mitomycin C." [HPO:sdoelken] comment: Increased tendency to chromosomal breakage induced by crosslinking agents is typical for the various forms of Fanconi anemia. synonym: "Chromosomal breakage induced by diepoxybutane" EXACT [] synonym: "Chromosomal breakage induced by mitomycin C" EXACT [] is_a: HP:0003220 ! Abnormality of chromosome stability [Term] id: HP:0003223 name: Decreased methylcobalamin alt_id: HP:0008287 def: "Decreased concentration of `methylcobalamin` (CHEBI:28115). Methylcobalamin is a form of vitamin B12." [HPO:probinson] synonym: "Methylcobalamin deficiency" EXACT [] is_a: HP:0004341 ! Abnormality of the vitamin B12 metabolism [Term] id: HP:0003224 name: Increased cellular sensitivity to UV light is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0003225 name: Reduced factor V activity def: "Decreased activity of coagulation factor V, Factor V, which is activated to factor Va by means of minute amounts of thrombin (and inactivated by larger amounts of thrombin). Activated factor V (fVa) is a cofactor in the formation of the prothrombinase complex." [HPO:probinson] synonym: "Factor V deficiency" RELATED [] xref: UMLS:C1414509 "Factor V deficiency" is_a: HP:0010990 ! Abnormality of the common coagulation pathway [Term] id: HP:0003226 name: Rectilinear intracellular accumulation of autofluorescent lipopigment storage material def: "An `intracellular accumulation of autofluorescent lipopigment storage material` (HP:0003204) in a `straight` (PATO:0002180) or rectilinear pattern." [HPO:probinson] synonym: "Rectilinear profiles ultrastructurally" EXACT [] xref: UMLS:C1850447 "'Rectilinear' profiles ultrastructurally" is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003228 name: Hypernatremia def: "An abnormally increased `sodium` (CHEBI:29101) concentration in the blood." [HPO:probinson] xref: MeSH:D006955 "Hypernatremia" xref: UMLS:C1522136 "Hypernatremia" is_a: HP:0010931 ! Abnormality of sodium homeostasis [Term] id: HP:0003231 name: Hypertyrosinemia def: "An increased concentration of `tyrosine` (CHEBI:18186) in the blood." [HPO:probinson] comment: Defect in fumarylacetoacetase. synonym: "Tyrosinemia" EXACT [] xref: MeSH:D020176 "Tyrosinemias" xref: UMLS:C0268483 "Tyrosinaemia" is_a: HP:0010917 ! Abnormality of tyrosine metabolism [Term] id: HP:0003232 name: Mitochondrial malic enzyme reduced synonym: "DECREASED MITOCHONDRIAL MALIC ENZYME" EXACT [HPO:skoehler] is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003233 name: Hypoalphalipoproteinemia def: "An decreased concentration of `high-density lipoprotein cholesterol` (CHEBI:47775) in the `blood` (FMA:9670)." [HPO:gcarletti] synonym: "Decreased circulating high-density lipoprotein cholesterol" EXACT [] synonym: "Decreased HDL cholesterol" EXACT [] synonym: "Low HDL-cholesterol" EXACT [] xref: UMLS:C0151691 "Decreased HDL cholesterol" is_a: HP:0010981 ! Hypolipoproteinemia [Term] id: HP:0003234 name: Decreased plasma carnitine 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 "Decreased plasma carnitine" is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0010967 ! Abnormality of carnitine metabolism [Term] id: HP:0003235 name: Hypermethioninemia 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 "Methioninaemia" is_a: HP:0010901 ! Abnormality of methionine metabolism [Term] id: HP:0003236 name: Elevated serum creatine phosphokinase alt_id: HP:0002147 alt_id: HP:0002906 alt_id: HP:0003078 alt_id: HP:0003525 alt_id: HP:0003531 alt_id: HP:0008164 def: "An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy." [HPO:probinson] synonym: "Elevated blood creatine phosphokinase" EXACT [] synonym: "Elevated circulating creatine phosphokinase" EXACT [] synonym: "Elevated creatine kinase" EXACT [] synonym: "Elevated serum CPK" EXACT [] synonym: "Elevated serum creatine kinase" EXACT [] synonym: "High serum creatine kinase" EXACT [] synonym: "Increased creatine kinase" EXACT [] synonym: "Increased creatine phosphokinase" EXACT [] synonym: "Increased creatine phosphokinase (CPK)" EXACT [] synonym: "Increased serum CK" EXACT [] synonym: "Increased serum creatine kinase" EXACT [] synonym: "Increased serum creatine phosphokinase" EXACT [] xref: UMLS:C1839664 "High serum creatine kinase" is_a: HP:0011021 ! Abnormality of circulating enzyme level [Term] id: HP:0003237 name: Increased IgG level def: "An abnormally increased level of immunoglobulin G in blood." [HPO:probinson] synonym: "Increased levels of IgG" EXACT [] is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0003238 name: Hyperpepsinogenemia I is_a: HP:0010876 ! Abnormality of circulating protein level [Term] id: HP:0003239 name: Phosphoethanolaminuria def: "An increased concentration of ` phosphoethanolamine` (CHEBI:36711) in the `urine` (FMA:12274)." [HPO:probinson] xref: UMLS:C0268412 "Phosphoethanolaminuria" is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003240 name: Increased phosphoribosylpyrophosphate (PRPP) synthetase is_a: HP:0010932 ! Abnormality of nucleobase metabolism [Term] id: HP:0003241 name: Genital hypoplasia 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:C1867445 "Genital hypoplasia" is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0003244 name: Penile hypospadias def: "Location of the urethral opening on the inferior aspect of the penis." [HPO:curators] xref: UMLS:C1691215 "Penile hypospadias" is_a: HP:0000047 ! Hypospadias [Term] id: HP:0003246 name: Prominent scrotal raphe synonym: "Prominent perineal raphe" EXACT [] xref: UMLS:C1852407 "Prominent scrotal raphe" is_a: HP:0000045 ! Abnormality of the scrotum [Term] id: HP:0003247 name: Overgrowth of external genitalia is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0003248 name: Gonadal tissue inappropriate for external genitalia or chromosomal sex is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0003249 name: Genital ulcers xref: UMLS:C0151281 "Genital ulcers" is_a: HP:0012243 ! Abnormal genital system morphology [Term] id: HP:0003250 name: Aplasia of the vagina alt_id: HP:0008709 def: "`Aplasia` (MPATH:58) of the `vagina` (FMA:19949)." [HPO:probinson] synonym: "Absent vagina" EXACT [] synonym: "Congenital absence of the vagina" EXACT [] xref: UMLS:C0220763 "Absent vagina" is_a: HP:0011026 ! Aplasia/Hypoplasia of the vagina [Term] id: HP:0003251 name: Male infertility xref: MeSH:D007248 "Male infertility" xref: UMLS:C0021364 "Male infertility" is_a: HP:0000789 ! Infertility [Term] id: HP:0003252 name: Anteriorly displaced genitalia is_a: HP:0012243 ! Abnormal genital system morphology [Term] id: HP:0003254 name: Abnormality of DNA repair def: "An abnormality of the process of `DNA repair` (GO:0006281), that is, of the process of restoring DNA after damage." [HPO:probinson] is_a: HP:0011017 ! Abnormality of cell physiology [Term] id: HP:0003256 name: Abnormality of the coagulation cascade alt_id: HP:0001925 def: "An abnormality of the coagulation cascade, which is comprised of the contact activation pathway (also known as the intrinsic pathway) and the tissue factor pathway (also known as the extrinsic pathway) as well as cofactors and regulators." [HPO:probinson] synonym: "Coagulopathy" EXACT [] is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003258 name: Glyoxalase deficiency is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis [Term] id: HP:0003259 name: Elevated serum creatinine alt_id: HP:0003227 def: "An increased amount of `creatinine` (CHEBI:16737) in the `blood` (FMA:9670)." [HPO:gcarletti] synonym: "Elevated creatinine" EXACT [] synonym: "Increased creatinine" EXACT [] synonym: "Increased serum creatinine" EXACT [] xref: UMLS:C0700225 "Increased serum creatinine" is_a: HP:0002157 ! Azotemia is_a: HP:0012100 ! Abnormal circulating creatinine level [Term] id: HP:0003260 name: Hydroxyprolinemia 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 "Hydroxyprolinaemia" is_a: HP:0010907 ! Abnormality of proline metabolism [Term] id: HP:0003261 name: Increased IgA level alt_id: HP:0004436 alt_id: HP:0005351 alt_id: HP:0005417 def: "An abnormally increased level of immunoglobulin A in blood." [HPO:probinson] synonym: "Elevated IgA" EXACT [] synonym: "Elevated serum IgA" EXACT [] synonym: "Increased levels of IgA" EXACT [] synonym: "Increased serum IgA" EXACT [] xref: UMLS:C1839166 "Elevated serum IgA" is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0003262 name: Smooth muscle antibody positivity def: "The presence in serum of antibodies against smooth muscle." [HPO:probinson] comment: Anti smooth muscle antibody (SMA) may be present in a number of conditions including chronic active hepatitis, autoimmune hepatatis, cirrhosis, and infectious mononucleosis. synonym: "Smooth muscle antibody positive" EXACT [] xref: UMLS:C0241185 "SMOOTH MUSCLE ANTIBODY POSITIVE" is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0003264 name: Deficiency of N-acetylglucosamine-1-phosphotransferase comment: N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003265 name: Neonatal hyperbilirubinemia alt_id: HP:0008152 def: "A type of `hyperbilirubinemia` (HP:0002904) with `neonatal onset` (HP:0003623)." [HPO:probinson] synonym: "Hyperbilirubinemia, neonatal" EXACT [] xref: MeSH:D051556 "Hyperbilirubinemia, Neonatal" xref: UMLS:C0857007 "Hyperbilirubinemia, Neonatal" is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0003267 name: Reduced orotidine 5-prime phosphate decarboxylase activity 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 [] is_a: HP:0004353 ! Abnormality of pyrimidine metabolism [Term] id: HP:0003268 name: Argininuria 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 xref: UMLS:C0205711 "Sudanophilic leukodystrophy" is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0003270 name: Abdominal distention alt_id: HP:0001542 alt_id: HP:0003364 def: "`Distention` (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 "ABDOMINAL DISTENTION" is_a: HP:0011458 ! Abdominal symptom [Term] id: HP:0003271 name: Visceromegaly 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 "Visceromegaly" is_a: HP:0002012 ! Abnormality of the abdominal organs [Term] id: HP:0003272 name: Abnormality of the hip bone def: "An abnormality of the `hip bone` (FMA:16585)." [HPO:probinson] comment: The hip region (as defined by the FMA) comprises the vasculature of hip, skin of hip, superficial fascia of hip, the hip bone, hip joint, and musculature of hip. The hip is part of the pelvic girdle. synonym: "Abnormality of the hips" EXACT [] is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology is_a: HP:0100491 ! Abnormality of the joints of the lower limbs [Term] id: HP:0003273 name: Hip contracture def: "Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint." [HPO:probinson, MeSH:D006616] synonym: "Flexion contracture of hips" EXACT [] synonym: "Flexion contractures of hips" EXACT [] synonym: "Hip contractures" EXACT [] synonym: "Hip flexion contractures" EXACT [] xref: MeSH:D006616 "Hip Contracture" xref: UMLS:C0409354 "Hip flexion contractures" is_a: HP:0005750 ! Contractures of the joints of the lower limbs is_a: HP:0008800 ! Limited hip movement [Term] id: HP:0003274 name: Hypoplastic acetabulae synonym: "Acetabular hypoplasia" EXACT [] synonym: "Hypoplastic acetabula" EXACT [] xref: UMLS:C1846442 "Hypoplastic acetabulae" is_a: HP:0003170 ! Abnormality of the acetabulum [Term] id: HP:0003275 name: Narrow pelvis xref: UMLS:C1848103 "Narrow pelvis" is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology [Term] id: HP:0003276 name: Pelvic exostoses def: "A benign growth the projects outward from the bone surface of the pelvis. Exostoses are cappped by cartilage, and arise from a bone that develops from cartilage." [HPO:probinson] xref: UMLS:C1844689 "Pelvic exostoses" is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology is_a: HP:0100777 ! Exostoses [Term] id: HP:0003277 name: Constricted iliac wings xref: UMLS:C1854785 "Constricted iliac wings" is_a: HP:0011867 ! Abnormality of the wing of the ilium [Term] id: HP:0003278 name: Square pelvis def: "An abnormally squared appearance of the bony pelvis, a normally rounded or basin-shaped structure." [HPO:probinson] synonym: "Squared off pelvis" RELATED [] is_a: HP:0002644 ! Abnormality of pelvic girdle bone morphology [Term] id: HP:0003279 name: Coxa magna def: "Widening of the femoral head and neck." [HPO:probinson] comment: Coxa magna can occur as a result of developmental dysplasia of the hip, Perthes disease, septic arthritis, Kniest dysplasia, among others. xref: UMLS:C1860826 "Coxa magna" is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0003281 name: Increased serum ferritin def: "Abnormal raised concentration of ferritin, a ubiquitous intracellular protein that stores iron, in the blood." [HPO:probinson] comment: Ferritin levels measured in serum usually have a direct correlation with the total amount of iron stored in the body, but ferritin levels may also be increased with anemia of chronic disease or in the course of an acute phase reaction. synonym: "Elevated serum ferritin" EXACT [] synonym: "Increased ferritin" EXACT [] synonym: "Increased serum ferritin level" EXACT [] xref: UMLS:C0241013 "Increased serum ferritin" is_a: HP:0011031 ! Abnormality of iron homeostasis [Term] id: HP:0003282 name: Low alkaline phosphatase def: "Abnormally reduced serum levels of `alkaline phosphatase activity` (GO:0004035)." [HPO:probinson] synonym: "Decreased serum alkaline phosphatase" EXACT [] xref: UMLS:C1855813 "Low alkaline phosphatase" is_a: HP:0004379 ! Abnormality of alkaline phosphatase activity [Term] id: HP:0003286 name: Cystathioninemia 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 "Cystathioninaemia" is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism [Term] id: HP:0003287 name: Abnormality of mitochondrial metabolism is_a: HP:0012103 ! Abnormality of the mitochondrion [Term] id: HP:0003288 name: Mitochondrial propionyl-CoA carboxylase (PCC) defect is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003292 name: Decreased serum leptin def: "A `decreased concentration` (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 "Decreased serum leptin" is_a: HP:0004361 ! Abnormality of circulating leptin level [Term] id: HP:0003295 name: Impaired FSH and LH secretion is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003296 name: Hyperthreoninuria def: "An increased concentration of `threonine` (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 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 def: "The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin." [HPO:probinson] comment: May be asymptomatic. xref: MeSH:D016136 "Spina Bifida Occulta" xref: UMLS:C0080174 "Spina Bifida Occulta" is_a: HP:0002414 ! Spina bifida [Term] id: HP:0003300 name: Ovoid vertebral bodies alt_id: HP:0004559 def: "When viewed in lateral radiographs, vertebral bodies have a roughly rectangular configuration. This term applies if the vertebral body appears rounded or oval." [HPO:probinson] synonym: "Bullet vertebral body" RELATED [] synonym: "Oval vertebral bodies" EXACT [] synonym: "Ovoid vertebrae" EXACT [] synonym: "Ovoid-shaped vertebral bodies" EXACT [] xref: UMLS:C1836864 "Ovoid vertebral bodies" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0003301 name: Irregular vertebral endplates alt_id: HP:0003420 alt_id: HP:0004583 alt_id: HP:0004628 def: "An irregular surface of the vertebral end plates, which are normally relatively smooth." [HPO:probinson] synonym: "end-plate irregularities" EXACT [] synonym: "endplate irregularities" EXACT [] synonym: "endplate irregularity" EXACT [] synonym: "Irregular end plates" EXACT [] synonym: "Irregular endplates" EXACT [] synonym: "irregular vertebral plates" EXACT [] synonym: "vertebral endplate irregularity" EXACT [] xref: UMLS:C1836587 "Irregular vertebral endplates" is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0003302 name: Spondylolisthesis def: "Complete bilateral fractures of the pars interarticularis resulting in the anterior slippage of the vertebra." [HPO:probinson, pmid:20411054] synonym: "Spondylolithesis" EXACT [] xref: MeSH:D013168 "Spondylolisthesis" xref: UMLS:C0038016 "Spondylolisthesis" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003304 name: Spondylolysis def: "Spondylolysis is an osseous defect of the pars interarticularis, thought to be a developmental or acquired stress fracture secondary to chronic low-grade trauma." [HPO:probinson, pmid:20440613] comment: The pars interarticularis is one of the bony bridges that connect the upper with the lower facet joints of the vertebra. Lumbar spondylolysis is a common cause of lower back pain. The vast majority of cases of spondylolysis occur at the L5 or L4 levels, and is usually diagnosed radiographically. Over half of patients affected by spondylolysis have associated spondylolisthesis. xref: MeSH:D013169 "Spondylolysis" xref: UMLS:C0038018 "Spondylolysis" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003305 name: Block vertebrae def: "Congenital synostosis between two or more adjacent vertebrae." [HPO:probinson] xref: UMLS:C1844753 "Block vertebrae" is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0003306 name: Spinal rigidity synonym: "Rigid spine" EXACT [] xref: UMLS:C1858025 "Spinal rigidity" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003307 name: Hyperlordosis alt_id: HP:0002939 def: "Abnormally increased cuvature (anterior concavity) of the lumbar or cervical spine." [HPO:probinson] synonym: "Lordosis" EXACT [] xref: MeSH:D008141 "Lordosis" xref: UMLS:C0599412 "lordosis" xref: UMLS:C1846834 "Hyperlordosis" is_a: HP:0010674 ! Abnormality of the curvature of the vertebral column [Term] id: HP:0003308 name: Cervical subluxation def: "A `partial dislocation` (PATO:0002157) of one or more intervertebral joints in the `cervical vertebral column` (FMA:24138)." [HPO:probinson] xref: UMLS:C1846798 "Cervical subluxation" is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0003309 name: Ovoid thoracolumbar vertebrae synonym: "Ovoid thoracic and lumbar vertebrae" EXACT [] xref: UMLS:C1854824 "Ovoid thoracolumbar vertebrae" is_a: HP:0003300 ! Ovoid vertebral bodies [Term] id: HP:0003310 name: Abnormality of the odontoid process alt_id: HP:0004600 def: "Abnormality of the `dens of the axis` (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:C1864794 "Abnormal odontoid peg" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003311 name: Hypoplasia of the odontoid process alt_id: HP:0003299 alt_id: HP:0004613 alt_id: HP:0008481 def: "Developmental hypoplasia of the `dens of the axis` (FMA:24043)." [HPO:probinson] synonym: "Hypoplastic odontoid process" EXACT [] synonym: "Odontoid hypoplasia" EXACT [] synonym: "Small odontoid process" EXACT [] xref: UMLS:C1846439 "Odontoid hypoplasia" is_a: HP:0003310 ! Abnormality of the odontoid process is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0003312 name: Abnormal form of the vertebral bodies synonym: "Abnormally-shaped vertebrae" EXACT [] synonym: "Round vertebral bodies" EXACT [] xref: UMLS:C1839326 "Abnormally-shaped vertebrae" is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0003316 name: Butterfly vertebrae def: "In the orthopedic and radiological literature, sagittally cleft vertebra is generally known as a butterfly vertebra." [HPO:probinson, pmid:3693103] synonym: "Schmetterlingswirbel" EXACT [] xref: UMLS:C1844752 "Butterfly vertebrae" is_a: HP:0008428 ! Vertebral clefting [Term] id: HP:0003318 name: Cervical spine hypermobility xref: UMLS:C0574967 "Cervical spine hypermobility" is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0003319 name: Abnormality of the cervical spine alt_id: HP:0004587 def: "Any abnormality of the `cervical vertebral column` (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:C1852464 "Cervical spine abnormalities" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003320 name: C1-C2 subluxation 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 "C1-Csubluxation" is_a: HP:0003308 ! Cervical subluxation is_a: HP:0008440 ! C1-C2 vertebral abnormality [Term] id: HP:0003321 name: Biconcave flattened vertebrae alt_id: HP:0005782 is_a: HP:0000926 ! Platyspondyly is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0003323 name: Progressive muscle weakness alt_id: HP:0009032 synonym: "Muscle weakness, progressive" EXACT [] synonym: "Progressive muscular weakness" EXACT [] xref: UMLS:C0240421 "Muscle weakness, progressive" is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003324 name: Generalized muscle weakness alt_id: HP:0003686 alt_id: HP:0003723 def: "Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature." [HPO:probinson] synonym: "Generalized weakness" EXACT [] synonym: "Muscle weakness, diffuse" EXACT [] synonym: "Muscle weakness, generalized" EXACT [] is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003325 name: Limb-girdle muscle weakness alt_id: HP:0008971 def: "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis." [HPO:curators] synonym: "Limb girdle weakness" EXACT [] synonym: "Muscle weakness, limb-girdle" EXACT [] synonym: "Muscular weakness, limb-girdle" EXACT [] xref: UMLS:C1858127 "Limb girdle weakness" is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003326 name: Myalgia alt_id: HP:0003718 def: "A tendency to experience muscle pain." [HPO:curators] synonym: "Muscle pain" EXACT [] xref: UMLS:C1963177 "Muscle pain" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003327 name: Axial muscle weakness def: "Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)." [HPO:curators] xref: UMLS:C1843697 "Axial muscle weakness" is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003328 name: Abnormal hair laboratory examination is_a: HP:0001595 ! Abnormality of the hair [Term] id: HP:0003329 name: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes is_a: HP:0003328 ! Abnormal hair laboratory examination [Term] id: HP:0003330 name: Abnormal bone structure def: "Any anomaly in the composite material or the layered arrangement of the bony skeleton." [HPO:probinson] xref: MP:0003795 "abnormal bone structure" is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0003332 name: Absent primary metaphyseal spongiosa is_a: HP:0005089 ! Abnormal metaphyseal trabeculation [Term] id: HP:0003333 name: Increased serum beta-hexosaminidase alt_id: HP:0008299 comment: This enzyme removes a beta-1,4-linked N-acetylhexosamine residue from the GM2 ganglioside. is_a: HP:0004345 ! Abnormality of ganglioside metabolism [Term] id: HP:0003334 name: Elevated circulating catecholamine level def: "An abnormal increase in `catecholamine` (CHEBI:33567) concentration in the blood." [HPO:probinson] comment: Elevated circulating catecholamine level is a common feature in patients with pheochromocytoma. is_a: HP:0012099 ! Abnormality of circulating catecholamine level [Term] id: HP:0003335 name: Low gonadotropins (secondary hypogonadism) synonym: "Gonadotropin insufficiency" EXACT [] xref: UMLS:C1846227 "Gonadotropin insufficiency" is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003336 name: Abnormal enchondral ossification alt_id: HP:0003331 def: "An abnormality of the process of `endochondral ossification` (GO:0001958), which is a type of replacement ossification in which bone tissue replaces cartilage." [HPO:probinson] comment: This term is intended to describe histological abnormalities of enchondral ossification observed upon bone biopsy. is_a: HP:0011842 ! Abnormality of skeletal morphology [Term] id: HP:0003337 name: Reduced prothrombin consumption alt_id: HP:0008172 def: "The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia." [HPO:probinson] synonym: "Poor prothrombin consumption" EXACT [] is_a: HP:0012200 ! Abnormality of prothrombin [Term] id: HP:0003338 name: Focal necrosis of right ventricular muscle cells is_a: HP:0001627 ! Abnormality of the heart [Term] id: HP:0003339 name: Pyrimidine-responsive megaloblastic anemia def: "A type of megaloblastic anemia that improves upon administration of pyrimidine supplements such as uridylic acid and cytidylic acid." [HPO:probinson] synonym: "Anemia corrected by uridylic acid and cytidylic acid" EXACT [] is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0003340 name: Abnormal dermatological laboratory findings comment: Consider integument abnormality, HP:0001574. is_obsolete: true [Term] id: HP:0003341 name: Junctional split def: "The formation of bullae (blisters) with cleavage in the `lamina lucida` (FMA:62921) layer of the skin." [HPO:probinson] synonym: "Subepidermal blistering with cleavage in the lamina lucida" EXACT [] is_a: HP:0008066 ! Abnormal blistering of the skin [Term] id: HP:0003343 name: Glutathione synthetase deficiency xref: UMLS:C0398746 "GLUTATHIONE SYNTHETASE DEFICIENCY" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003344 name: 3-Methylglutaric aciduria synonym: "3-Methylglutaconicaciduria" EXACT [] synonym: "3-methylglutaricaciduria" EXACT [] xref: UMLS:C0278026 "Aciduria" is_a: HP:0003535 ! 3-Methylglutaconic aciduria [Term] id: HP:0003345 name: Elevated urinary norepinephrine def: "An increased concentration of `noradrenaline` (CHEBI:33569) in the `urine` (FMA:12274)." [HPO:probinson] is_a: HP:0011976 ! Elevated urinary catecholamines [Term] id: HP:0003347 name: Impaired lymphocyte transformation with phytohemagglutinin def: "Normal peripheral blood lymphocytes, when stimulated by phytohemagglutinin (PHA) are cytotoxic for homologous and heterologous cells but not for autologous cells in monolayer culture. The cytotoxic effect is thought to be indicative of the immunological competence of the lymphocytes." [HPO:probinson] comment: The response of lymphocytes to PHA is measured by their ability to transform and to undergo mitosis. is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0003348 name: Hyperalaninemia def: "An increased concentration of `alanine` (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:C1839424 "Increased blood alanine" 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 def: "A reduction in the rate of `cholesterol esterification` (GO:0034435)." [HPO:probinson] xref: UMLS:C1843371 "Low cholesterol esterification rates" is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003351 name: Decreased circulating renin level 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:C1845206 "Decreased plasma renin activity" is_a: HP:0000847 ! Abnormality of renin-angiotensin system [Term] id: HP:0003352 name: Endopolyploidy on chromosome studies of bone marrow def: "An increase in the number of chromosome sets per cell in bone marrow cells." [HPO:probinson] comment: Endopolyploidy is caused by replication without cell division. is_a: HP:0002916 ! Abnormality of chromosome segregation [Term] id: HP:0003353 name: Propionyl-CoA carboxylase deficiency def: "An `abnormality of amino acid metabolism` (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 "Propionyl-CoA carboxylase deficiency" is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0003354 name: Hyperthreoninemia def: "An increased concentration of `threonine` (CHEBI:26986) in the `blood` (FMA:9670)." [HPO:probinson] xref: UMLS:C1848861 "HYPERTHREONINEMIA" is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010900 ! Abnormality of threonine metabolism [Term] id: HP:0003355 name: Aminoaciduria 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:C0238621 "Aminoaciduria" is_a: HP:0004337 ! Abnormality of amino acid metabolism is_a: HP:0012072 ! Aciduria [Term] id: HP:0003357 name: Thymic hormone decreased is_a: HP:0000777 ! Abnormality of the thymus [Term] id: HP:0003358 name: Elevated intracellular cystine def: "An increased concentration of `cystine` (CHEBI:17376) within cells. This finding can be demonstrated on leukocytes, but is not specific to blood cells." [HPO:probinson] comment: Cystine is a dimeric amino acid formed by the oxidation of two cysteine residues to form a disulfide bond. xref: UMLS:C1857392 "Elevated white blood cell cystine" is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism is_a: HP:0010918 ! Abnormality of cysteine metabolism [Term] id: HP:0003359 name: Decreased urinary sulfate def: "Decreased concentration of `sulfate` (CHEBI:16189) in the urine." [HPO:probinson] is_a: HP:0004369 ! Decreased purine levels is_a: HP:0011866 ! Abnormal urine anion concentration [Term] id: HP:0003361 name: Tryptophanuria 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 "Tryptophanuria" 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 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 [] is_a: HP:0010980 ! Hyperlipoproteinemia [Term] id: HP:0003363 name: Abdominal situs inversus def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the `viscera of the abdomen` (FMA:259123)." [HPO:probinson] synonym: "Situs inversus visceralis" EXACT [] synonym: "Situs inversus viscerum" EXACT [] xref: UMLS:C0037221 "Situs inversus viscerum" is_a: HP:0011620 ! Abnormality of abdominal situs [Term] id: HP:0003365 name: Arthralgia of the hip def: "Joint pain affecting the hip." [HPO:probinson] synonym: "Arthralgia (hip)" EXACT [] synonym: "Coxalgia" EXACT [] is_a: HP:0003272 ! Abnormality of the hip bone [Term] id: HP:0003366 name: Abnormality of the femoral neck and head region is_a: HP:0002823 ! Abnormality of the femur [Term] id: HP:0003367 name: Abnormality of the femoral neck def: "An abnormality of the `femoral neck` (FMA:42385) (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:probinson] is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0003368 name: Abnormality of the femoral head def: "An abnormality of the `femoral head` (FMA:32851)." [HPO:probinson] is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0003370 name: Flat capital femoral epiphysis 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:C1856926 "Flat proximal femoral epiphyses" is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head [Term] id: HP:0003371 name: Enlargement of the proximal femoral epiphysis def: "An abnormal enlargement of the `proximal epiphysis of the femur` (FMA:32841)." [HPO:probinson] synonym: "Enlarged capital femoral epiphyses" EXACT [] xref: UMLS:C1859697 "Enlarged capital femoral epiphyses" is_a: HP:0010574 ! Abnormality of the epiphysis of the femoral head is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003375 name: Narrow greater sacrosciatic notches alt_id: HP:0008805 alt_id: HP:0008813 alt_id: HP:0008840 alt_id: HP:0008842 def: "A narrowing of the sacrosciatic notch, i.e., the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [HPO:curators] synonym: "Narrow sacrosciatic notch" EXACT [] synonym: "Narrow sciatic notches" EXACT [] synonym: "Narrowed greater sciatic notch" EXACT [] synonym: "Narrowed sacrosciatic notch" EXACT [] synonym: "Small sacrosciatic notch" EXACT [] synonym: "Small sacrosciatic notches" EXACT [] xref: UMLS:C1857188 "Small sacrosciatic notches" is_a: HP:0010456 ! Abnormality of the greater sacrosciatic notch [Term] id: HP:0003376 name: Steppage gait def: "An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again." [HPO:probinson] xref: UMLS:C0427149 "'Steppage' gait" is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0003378 name: Axonal degeneration/regeneration def: "A pattern of simultaneous degeneration and regeneration of axons (see comment)." [HPO:probinson] comment: This finding is typically demonstrated by nerve biopsy. Following focal damage to an axon, the part of the axon that is distal to the lesion invariably degenerates, a process that is known as anterograde (or Wallerian) degeneration. During Wallerian degeneration, often a microenvironment is created that can allow successful regrowth of nerve fibres from the proximal nerve segment. synonym: "Axon degeneration and regeneration" EXACT [] is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003380 name: Decreased number of peripheral myelinated nerve fibers alt_id: HP:0003385 alt_id: HP:0003386 alt_id: HP:0007093 alt_id: HP:0007135 alt_id: HP:0007177 alt_id: HP:0007320 alt_id: HP:0007322 def: "A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy)." [HPO:probinson] comment: This finding can be demonstrated by nerve biopsy. synonym: "Decreased number of large and small myelinated fibers" EXACT [] synonym: "Loss of myelinated fibers" EXACT [] is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0003382 name: Hypertrophic nerve changes is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003383 name: Onion bulb formation alt_id: HP:0003389 alt_id: HP:0007013 alt_id: HP:0007022 alt_id: HP:0007084 alt_id: HP:0008276 def: "Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves." [HPO:probinson] comment: This feature is characteristic of chronic demyelinating neuropathies as well as certain hereditary neuropathies. Onion-bulb formation may be observed in electron microscopic examinations of peripheral nerve biopsy material. Often, this examination is performed on the sural nerve. synonym: "'Onion bulb' formations" EXACT [] xref: UMLS:C1847906 "'Onion bulb' formations" is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0003384 name: Peripheral axonal atrophy def: "Atrophic changes of `axons` (FMA:67308) of the peripheral nervous system." [HPO:probinson] comment: This finding is typically demonstrated by nerve biopsy. is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003387 name: Decreased number of large peripheral myelinated nerve fibers alt_id: HP:0006868 alt_id: HP:0007031 alt_id: HP:0007315 def: "A reduced number of large myelinated nerve fibers." [HPO:probinson] comment: This finding can be demonstrated by nerve biopsy. synonym: "Depletion of large myelinated fibers" EXACT [] synonym: "Loss of large myelinated fibers" EXACT [] synonym: "Loss of larger myelinated nerve fibers" EXACT [] is_a: HP:0003380 ! Decreased number of peripheral myelinated nerve fibers [Term] id: HP:0003388 name: Easy fatigability def: "Increased susceptibility to fatigue." [HPO:probinson] comment: Fatigue describes the inability to continue performing a task after multiple repetitions. xref: UMLS:C1837098 "Easy fatigability" is_a: HP:0000707 ! Abnormality of the nervous system is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003390 name: Sensory axonal neuropathy alt_id: HP:0006883 alt_id: HP:0007248 alt_id: HP:0007345 def: "An axonal neuropathy of peripheral sensory nerves." [HPO:curators] synonym: "Axonal sensory neuropathy" EXACT [] synonym: "Peripheral sensory axonal neuropathy" RELATED [] xref: UMLS:C1842587 "Sensory axonal neuropathy" is_a: HP:0000763 ! Sensory neuropathy is_a: HP:0003477 ! Peripheral axonal neuropathy [Term] id: HP:0003391 name: Gower sign def: "A phenomenon whereby patients are not able to stand up without the use of the hands owing to weakness of the proximal muscles of the lower limbs." [HPO:probinson] synonym: "Gowers sign" EXACT [] synonym: "Positive Gower sign" EXACT [] synonym: "Positive Gowers sign" EXACT [] xref: UMLS:C0234182 "Gower sign" is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0003392 name: First dorsal interossei muscle weakness xref: UMLS:C1832277 "First dorsal interossei muscle weakness" is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0003393 name: Thenar muscle atrophy xref: UMLS:C1864715 "Thenar muscle atrophy" is_a: HP:0009130 ! Hand muscle atrophy [Term] id: HP:0003394 name: Muscle cramps alt_id: HP:0009018 def: "Sudden and involuntary contractions of one or more muscles." [HPO:probinson] xref: MeSH:D009120 "Muscle Cramp" xref: UMLS:C0026821 "Cramps" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003396 name: Syringomyelia alt_id: HP:0006933 def: "Dilated, glial-lined cavity in spinal cord. This cavity does not communicate with the central canal, and usually is between the dorsal columns unilaterally or bilaterally along the side of the cord." [HPO:sdoelken] xref: MeSH:D013595 "Syringomyelia" xref: UMLS:C0039144 "Syringomyelia" is_a: HP:0100561 ! Spinal cord lesions [Term] id: HP:0003397 name: Generalized hypotonia due to defect at the neuromuscular junction is_a: HP:0001290 ! Generalized hypotonia is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003398 name: Abnormality of the neuromuscular junction def: "Any abnormality of the neuromuscular junction, which is the synapse between the motor end plate of a motor neuron and the skeletal muscle fibers." [HPO:probinson] is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003400 name: Basal lamina 'onion bulb' formation def: "A type of `onion bulb formation` (HP:0003383) prominently affecting the area of the basal lamina." [HPO:probinson] synonym: "Basal lamina 'onion bulb' formations on nerve biopsy" EXACT [] is_a: HP:0003383 ! Onion bulb formation [Term] id: HP:0003401 name: Paresthesia alt_id: HP:0002082 def: "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:probinson] synonym: "Paresthesias" EXACT [] xref: MeSH:D010292 "Paresthesia" xref: UMLS:C2242996 "paresthesia" is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003402 name: Decreased miniature endplate potentials def: "An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction." [HPO:probinson] comment: Miniature end plate potentials are the small (about 0.5mV) depolarisations of the postsynaptic terminal caused by the release of a single vesicle into the synaptic cleft. synonym: "Decreased miniature endplate potentials (MEPP)" EXACT [] synonym: "Small miniature endplate currents" EXACT [] synonym: "Small miniature endplate potentials" EXACT [] is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003403 name: EMG: decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation alt_id: HP:0003430 alt_id: HP:0003478 def: "A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation." [HPO:probinson] is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003405 name: Diffuse axonal swelling is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003406 name: Peripheral nerve compression xref: UMLS:C1851414 "Peripheral nerve compression" is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003409 name: Distal sensory impairment of all modalities synonym: "Distal sensory loss to all modalities" EXACT [] is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003411 name: Irregular proximal femoral metaphyses xref: UMLS:C1836320 "Irregular proximal femoral metaphyses" is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0003413 name: Atlantoaxial abnormality is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003414 name: Atlantoaxial dislocation def: "Partial dislocation of the atlantoaxial joint." [HPO:curators] synonym: "Atlanto-axial subluxation" EXACT [] synonym: "Atlantoaxial subluxation" EXACT [] xref: UMLS:C1388934 "Atlantoaxial dislocation" is_a: HP:0003413 ! Atlantoaxial abnormality [Term] id: HP:0003416 name: Spinal canal stenosis alt_id: HP:0008446 def: "An abnormal narrowing of the spinal canal." [HPO:probinson] comment: Stenosis of the spinal canal can result in neurological symptoms because of compression of the spinal cord or spinal nerve roots, depending on the location of the stenosis in the vertebral column. synonym: "Narrow spinal canal" EXACT [] synonym: "Spinal stenosis" EXACT [] xref: MeSH:D013130 "Spinal Stenosis" xref: UMLS:C0037944 "Spinal Stenosis" xref: UMLS:C1861329 "Spinal canal stenosis" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003417 name: Coronal cleft vertebrae alt_id: HP:0003673 def: "Frontal schisis (cleft or cleavage) of vertebral bodies." [HPO:probinson] comment: Coronal cleft vertebrae result when there are two, instead of one, primary ossification centers in a vertebral body. An unossified cartilaginous brdige may be observed radiographically with the shape of a cleft. If the two ossification centers are ventral/dorsal, a coronal cleft is observed, and if the two ossification centers are left/right, than a sagittal cleft is observed. synonym: "coronal cleft of vertebrae" EXACT [] synonym: "Coronal clefts" EXACT [] synonym: "Coronal vertebral clefts" EXACT [] synonym: "Vertebral coronal clefts" EXACT [] xref: UMLS:C1859137 "Coronal cleft vertebrae" is_a: HP:0008428 ! Vertebral clefting [Term] id: HP:0003418 name: Back pain xref: MeSH:D001416 "Back Pain" xref: UMLS:C1963071 "Back pain" is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003419 name: Low back pain synonym: "Lower back pain" EXACT [] xref: MeSH:D017116 "Low Back Pain" xref: UMLS:C0024031 "Low Back Pain" is_a: HP:0003418 ! Back pain [Term] id: HP:0003421 name: Platyspondyly (childhood) is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0003422 name: Vertebral segmentation defect alt_id: HP:0005705 synonym: "Abnormal spinal segmentation" EXACT [] xref: UMLS:C0432163 "Vertebral segmentation defects" is_a: HP:0003468 ! Abnormality of the vertebrae [Term] id: HP:0003423 name: Thoracolumbar kyphoscoliosis synonym: "Dorsolumbar kyphosis" EXACT [] xref: UMLS:C1859335 "Thoracolumbar kyphoscoliosis" is_a: HP:0002751 ! Kyphoscoliosis is_a: HP:0002944 ! Thoracolumbar scoliosis is_a: HP:0005619 ! Thoracolumbar kyphosis [Term] id: HP:0003426 name: First dorsal interossei muscle atrophy xref: UMLS:C1832278 "First dorsal interossei muscle atrophy" is_a: HP:0007181 ! Interosseus muscle atrophy [Term] id: HP:0003427 name: Thenar muscle weakness xref: UMLS:C1832276 "Thenar muscle weakness" is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0003429 name: Hypomyelination def: "Reduced amount of myelin in the nervous system resulting from defective myelinogenesis." [HPO:probinson] xref: UMLS:C0544820 "Hypomyelination" is_a: HP:0011400 ! Abnormal CNS myelination [Term] id: HP:0003431 name: Decreased motor nerve conduction velocity alt_id: HP:0000760 alt_id: HP:0003379 alt_id: HP:0003395 alt_id: HP:0003437 alt_id: HP:0006907 alt_id: HP:0008170 def: "A type of decreased nerve conduction velocity that affects the `motor neuron` (FMA:83617)." [HPO:probinson] comment: Newborn infants have values that are approximately half that of adults, and adult values are normally reached by age 3 or 4. Motor nerve conduction is evaluated by recording the compound muscle action potential (CMAP) associated with a mechanical contraction of a given muscle in response to electrical stimulation of the motor nerve fibers supplying that muscle. The CMAP is the sum of all the action potentials occurring individually in the contracting muscle fibers. synonym: "Decreased motor nerve conduction velocities (NCV)" EXACT [] synonym: "Decreased motor nerve conduction velocity (NCV)" EXACT [] synonym: "Reduced motor nerve conduction velocity" EXACT [] xref: UMLS:C1854030 "Reduced motor nerve conduction velocity" is_a: HP:0000762 ! Decreased nerve conduction velocity is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0003434 name: Sensory ataxic neuropathy xref: UMLS:C1843859 "Sensory ataxic neuropathy" is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003435 name: Cold-induced hand cramps xref: UMLS:C1832279 "Cold-induced hand cramps" is_a: HP:0003449 ! Cold-induced muscle cramps [Term] id: HP:0003436 name: Prolonged miniature endplate currents alt_id: HP:0003479 def: "An abnormal prolongation of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction." [HPO:probinson] synonym: "Prolonged miniature endplate currents (MEPC)" EXACT [] synonym: "Prolonged miniature endplate potentials" EXACT [] synonym: "Prolonged miniature endplate potentials (MEPP)" EXACT [] is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003438 name: Absent Achilles reflex alt_id: HP:0007032 alt_id: HP:0007241 def: "Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed." [HPO:probinson] synonym: "Absent ankle reflexes" EXACT [] xref: UMLS:C0558845 "Absent ankle reflexes" is_a: HP:0002522 ! Areflexia of lower limbs [Term] id: HP:0003440 name: Horizontal sacrum xref: UMLS:C1850558 "Horizontal sacrum" is_a: HP:0005107 ! Abnormality of the sacrum [Term] id: HP:0003443 name: Decreased size of nerve terminals def: "A reduction in the size of nerve terminals." [HPO:probinson] comment: Nerve terminals are the output region of nerves located presynaptically and (in the case of chemical synapses) containing vesicles of chemical neurotransmitters. Presynaptic nerve terminals normally are larger in diameter than the axon and have the appearance of a bud. This feature can be demonstrated by muscle biopsy. is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003444 name: EMG: chronic denervation signs alt_id: HP:0007059 def: "Evidence of chronic denervation on electromyography." [HPO:probinson] comment: This is a bundled term that is kept for convenience. It is preferable to annotate the precise clinical abnormalities observed. is_a: HP:0003445 ! EMG: neuropathic changes [Term] id: HP:0003445 name: EMG: neuropathic changes alt_id: HP:0002178 alt_id: HP:0002547 alt_id: HP:0007279 def: "The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials)." [HPO:probinson] comment: This is a bundled term. It is preferable to annotate the precise clinical observations, but the term is kept now for convenience. synonym: "EMG: neurogenic abnormalities" EXACT [] synonym: "EMG: neurogenic changes" EXACT [] synonym: "EMG: neurogenic findings" EXACT [] is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003447 name: Axonal loss alt_id: HP:0003360 def: "A reduction in the number of axons in the peripheral nervous system." [DDD:probinson] comment: This finding can be observed upon nerve biopsy. xref: UMLS:C1832338 "Axonal loss" is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003448 name: Decreased sensory nerve conduction velocity alt_id: HP:0006914 def: "Reduced speed of conduction of the action potential along a sensory nerve." [HPO:probinson] comment: The sensory nerve action potential (SNAP) in response to electrical stimulation is recorded from the nerve itself by means of dermal recording electrodes. The SNAP is the sum of all the action potentials generated in sensory nerve fibres by the applied electrical impulse. synonym: "Decreased sensory nerve conduction velocities" EXACT [] synonym: "Decreased sensory nerve conduction velocities (NCV)" EXACT [] is_a: HP:0000762 ! Decreased nerve conduction velocity [Term] id: HP:0003449 name: Cold-induced muscle cramps def: "Sudden and involuntary contractions of one or more muscles brought on by exposure to cold temperatures." [HPO:probinson] xref: UMLS:C1861675 "Cold-induced muscle cramps" is_a: HP:0003394 ! Muscle cramps [Term] id: HP:0003450 name: Axonal regeneration def: "The presence of axonal regeneration following a previous axonal lesion." [HPO:probinson] comment: This finding is typically demonstrated by nerve biopsy. See the comment of term HP:0003378 for further information. synonym: "Regenerative activity on nerve biopsy" EXACT [] is_a: HP:0000764 ! Peripheral axonal degeneration [Term] id: HP:0003451 name: Increased rate of premature chromosome condensation def: "An increased rate of `premature` (PATO:0000694) `chromosome condensation` (GO:0030261)." [HPO:probinson] xref: UMLS:C1847344 "Premature chromosome condensation" is_a: HP:0011019 ! Abnormality of chromosome condensation [Term] id: HP:0003452 name: Increased serum iron xref: UMLS:C0151900 "Increased serum iron" is_a: HP:0011031 ! Abnormality of iron homeostasis [Term] id: HP:0003453 name: Antineutrophil antibody positivity def: "The presence of autoantibodies in the serum that react against neutrophils." [HPO:probinson] comment: Circulating serum antibodies are measured by flow cytometry after incubation with normal neutrophils. Values greater than 2 standard deviations of a normal control population are interpreted as weakly positive and greater than 3 standard deviations as positive. synonym: "Antineutrophil antibodies" EXACT [] synonym: "Neutrophil antibody positive" EXACT [] xref: MeSH:D019268 "Antibodies, Antineutrophil Cytoplasmic" xref: UMLS:C1858981 "Neutrophil antibody positive" is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0003454 name: Platelet antibody positive def: "The presence in the serum of autoantibodies directed against thrombocytes." [HPO:probinson] synonym: "Platelet antibody" EXACT [] xref: UMLS:C1858980 "Platelet antibody positive" is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0003455 name: Elevated long chain fatty acids alt_id: HP:0008333 def: "Increased concentration of `long-chain fatty acid` (CHEBI:15904)." [HPO:probinson] comment: This feature can be measured in plasma, as well as in cultured fibroblasts of amniocytes. synonym: "Increased serum long-chain fatty acids" EXACT [] xref: UMLS:C1859241 "Elevated long chain fatty acids" is_a: HP:0010964 ! Abnormality of long-chain fatty-acid metabolism [Term] id: HP:0003456 name: Low urinary cyclic AMP response to PTH administration is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003457 name: EMG abnormality alt_id: HP:0002177 alt_id: HP:0003751 alt_id: HP:0003753 alt_id: HP:0100286 def: "Abnormal results of investigations using electromyography (EMG)." [HPO:probinson, pmid:18751841] synonym: "Abnormal electromyography finding" EXACT [] synonym: "Abnormal EMG" EXACT [] synonym: "Electromyogram abnormal" EXACT [] synonym: "EMG abnormalities" EXACT [] xref: UMLS:C0476403 "Abnormal EMG" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003458 name: EMG: myopathic abnormalities alt_id: HP:0003322 alt_id: HP:0003711 alt_id: HP:0009021 def: "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] synonym: "EMG: myopathic changes" EXACT [] synonym: "EMG: myopathy" EXACT [] synonym: "Myopathic electromyogram" EXACT [] is_a: HP:0003198 ! Myopathy is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003459 name: Polyclonal elevation of IgM is_a: HP:0003496 ! Increased IgM level [Term] id: HP:0003460 name: Total immunoglobulin A deficiency def: "Undetectable serum immunoglobulin A level at a value < 5 mg/dL (0.05 g/L)." [HPO:probinson] xref: UMLS:C1843528 "Markedly reduced IgA levels" is_a: HP:0002720 ! IgA deficiency [Term] id: HP:0003461 name: Increased urinary O-linked sialopeptides def: "Excretion of peptides conjugated to `sialic acid` (CHEBI:26667) in the urine." [HPO:probinson] xref: UMLS:C1836533 "Increased urinary O-linked sialopeptides" is_a: HP:0012067 ! Glycopeptiduria [Term] id: HP:0003462 name: Elevated 8-dehydrocholesterol is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003463 name: Increased extraneuronal autofluorescent lipopigment def: "Lipofuscin, a generic term applied to autofluorescent lipopigment, is a mixture of protein and lipid that accumulates in most aging cells, particularly those involved in high lipid turnover (e.g., the adrenal medulla) or phagocytosis of other cell types (e g., the retinal pigment epithelium or RPE; macrophage). This term pertains if there is an increase in the extraneuronal accumulation of lipofuscin (also known as autofluorescent lipoprotein) more than expected for the age of the patient." [HPO:probinson, pmid:11406682] synonym: "Lipopigment in extraneuronal cells" RELATED [] is_a: HP:0011813 ! Increased cerebral lipofuscin [Term] id: HP:0003464 name: Abnormal cholesterol homeostasis xref: UMLS:C1843372 "Abnormal cholesterol homeostasis" is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003465 name: Elevated 8(9)-cholestenol xref: UMLS:C0205250 "Elevated" is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003466 name: Paradoxical increased cortisol secretion on dexamethasone suppression test is_a: HP:0011731 ! Abnormality of circulating cortisol level [Term] id: HP:0003467 name: Atlantoaxial instability xref: UMLS:C0410653 "Atlantoaxial instability" is_a: HP:0003413 ! Atlantoaxial abnormality [Term] id: HP:0003468 name: Abnormality of the vertebrae alt_id: HP:0005719 def: "An abnormality of one or more of the `vertebrae` (FMA:9914)." [HPO:probinson] comment: A vertebra is one of 33 bony segments that form the spinal column of humans. There are 7 cervical, 12 thoracic, 5 lumbar, 5 sacral and 4 coccygeal vertebrae (the coccygeal vertebrae are fused into one coccyx bone). synonym: "Abnormal vertebral bodies" RELATED [] synonym: "Vertebral anomalies" EXACT [] is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003469 name: Peripheral dysmyelination def: "Defective structure and function of myelin sheaths." [HPO:probinson] is_a: HP:0003130 ! Abnormal peripheral myelination [Term] id: HP:0003470 name: Paralysis def: "Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement." [HPO:curators] xref: MeSH:D010243 "Paralysis" xref: UMLS:C0522224 "Paralysis" is_a: HP:0011442 ! Abnormality of central motor function [Term] id: HP:0003472 name: Hypocalcemic tetany def: "Hyperexcitability of the neuromuscular system related to abnormally low level of calcium in the blood, resulting in carpopedal or generalized spasms." [HPO:probinson] xref: UMLS:C0151940 "Hypocalcaemic tetany" is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0002901 ! Hypocalcemia [Term] id: HP:0003473 name: Fatigable weakness alt_id: HP:0003399 alt_id: HP:0003428 alt_id: HP:0100794 def: "A type of weakness that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions." [HPO:probinson] comment: This type of weakness is pathognomonic for an abnormality of the neuromuscular junction such as myasthenia gravis. A characteristic form of muscular weakness that worsens after use of affected muscles. Myasthenia is caused by failure of neuromuscular transmission, which results from the binding of autoantibodies to proteins involved in signaling at the neuromuscular junction, including especially the nicotinic acetyl choline receptor (AChR) or, less frequently, a muscle-specific tyrosine kinase involved in AChR clustering. synonym: "Fatigable weakness of limb muscles" EXACT [] synonym: "Generalized muscle weakness due to defect at the neuromuscular junction" EXACT [] synonym: "Myasthenia" EXACT [] synonym: "Myasthenic weakness" EXACT [] synonym: "Proximal muscle weakness due to defect at the neuromuscular junction" EXACT [] is_a: HP:0001324 ! Muscle weakness is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003474 name: Sensory impairment alt_id: HP:0100964 def: "An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hyesthesia) refers to a reduction in cutaneous sensation to a specific type of testing." [HPO:probinson] comment: This term does not include abnormalities of cortical sensation such as two-point discrimination, stereognosis, and graphesthesia. synonym: "Hypoaesthesia" EXACT [] synonym: "Hypoesthesia" EXACT [] xref: UMLS:C1850002 "Sensory impairment" is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003477 name: Peripheral axonal neuropathy alt_id: HP:0006814 alt_id: HP:0006842 alt_id: HP:0007169 alt_id: HP:0008304 def: "An abnormality characterized by disruption of the normal functioning of peripheral axons." [HPO:probinson] comment: This abnormality can be assay by electromyography (EMG) or by nerve biopsy. synonym: "Axonal neuropathy" EXACT [] synonym: "Axonal peripheral neuropathy" EXACT [] xref: UMLS:C0270921 "Axonal neuropathy" xref: UMLS:C1263857 "Peripheral axonal neuropathy" is_a: HP:0000764 ! Peripheral axonal degeneration is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003481 name: Segmental peripheral demyelination/remyelination alt_id: HP:0003425 def: "A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves." [HPO:probinson] synonym: "Segmental demyelination/remyelination" EXACT [] is_a: HP:0011096 ! Peripheral demyelination [Term] id: HP:0003482 name: EMG: axonal abnormality def: "Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials." [HPO:probinson] comment: This is a bundled term that is kept for convenience. It is preferable to record the precise clinical observations. is_a: HP:0003457 ! EMG abnormality [Term] id: HP:0003484 name: Upper limb muscle weakness def: "Weakness of the muscles of the arms." [HPO:probinson] is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0003487 name: Babinski sign alt_id: HP:0001352 def: "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] comment: A positive Babinski sign can indicate damage to the corticospinal tract. synonym: "Extensor plantar reflexes" EXACT [] synonym: "Extensor plantar response" EXACT [] synonym: "Extensor plantar responses" EXACT [] xref: MeSH:D001405 "Reflex, Babinski" xref: UMLS:C0034935 "Extensor Plantar Response" is_a: HP:0007256 ! Abnormality of pyramidal motor function [Term] id: HP:0003489 name: Acute episodes of neuropathic symptoms comment: Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003490 name: Defective dehydrogenation of isovaleryl CoA and butyryl CoA comment: Isovaleryl CoA is an intermediate product in the catabolism of leucine. Butyryl CoA is an intermediate in fatty acid degradation and in biosynthesis. is_a: HP:0004357 ! Abnormality of leucine metabolism is_a: HP:0004359 ! Abnormality of fatty-acid metabolism [Term] id: HP:0003491 name: Elevated urine pyrophosphate def: "An abnormally increased `diphosphate(4-)` (CHEBI:18361) concentration in the `urine` (FMA:12274). Diphosphate(4-), as ester with two phosphate groups, is also known as pyrophosphate." [HPO:probinson] is_a: HP:0011866 ! Abnormal urine anion concentration [Term] id: HP:0003492 name: High urinary gonadotropins (primary hypogonadism) is_a: HP:0003117 ! Abnormality of circulating hormone level [Term] id: HP:0003493 name: Antinuclear antibody positivity def: "The presence of autoantibodies in the serum that react against nuclei or nuclear components." [HPO:probinson] comment: Antinuclear antibodies (ANAs) are found in patients with a number of different autoimmune diseases, such as systemic lupus erythematosus, Sjogren's syndrome, rheumatoid arthritis, polymyositis, scleroderma, Hashimoto's thyroiditis, juvenile diabetes mellitus, Addison disease, vitiligo, pernicious anemia, glomerulonephritis, and pulmonary fibrosis. ANAs can display various staining patterns such as homogeneous or diffuse; speckled; nucleolar; and peripheral or rim. synonym: "Antinuclear antibodies" EXACT [] synonym: "Antinuclear antibody positive" EXACT [] synonym: "Elevated antinuclear antibody" EXACT [] synonym: "Serum antinuclear antibody" EXACT [] xref: MeSH:D000974 "Antibodies, Antinuclear" xref: UMLS:C0151480 "Antinuclear antibody positive" is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0003494 name: Loss of heterozygosity, multiple chromosomes is_obsolete: true [Term] id: HP:0003495 name: GM2-ganglioside accumulation xref: UMLS:C1848920 "Gm2-ganglioside accumulation" is_a: HP:0004345 ! Abnormality of ganglioside metabolism [Term] id: HP:0003496 name: Increased IgM level alt_id: HP:0002962 def: "An abnormally increased level of immunoglobulin M in blood." [HPO:probinson] synonym: "Increased IgM levels" EXACT [] synonym: "Increased levels of IgM" EXACT [] xref: UMLS:C1839972 "Increased IgM levels" is_a: HP:0010702 ! Hypergammaglobulinemia [Term] id: HP:0003498 name: Disproportionate short stature alt_id: HP:0008895 alt_id: HP:0008900 def: "A kind of `short stature` (HP:0004322) in which different regions of the body are shortened to differing extents." [HPO:probinson] synonym: "Short stature, disproportionate" EXACT [] is_a: HP:0004322 ! Short stature [Term] id: HP:0003502 name: Mild short stature alt_id: HP:0003503 alt_id: HP:0008879 alt_id: HP:0008908 def: "A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex." [DDD:hfirth] synonym: "Relative short stature" RELATED [] synonym: "short stature, mild" EXACT [HPO:skoehler] xref: UMLS:C1833000 "Mild short stature" is_a: HP:0003508 ! Proportionate short stature [Term] id: HP:0003508 name: Proportionate short stature alt_id: HP:0003499 def: "A kind of `short stature` (HP:0004322) in which different regions of the body are shortened to a comparable extent." [HPO:probinson] synonym: "Proportionate small stature" EXACT [] synonym: "Short stature, proportionate" EXACT [] is_a: HP:0004322 ! Short stature [Term] id: HP:0003510 name: Severe short stature alt_id: HP:0001424 alt_id: HP:0001516 alt_id: HP:0003504 alt_id: HP:0008867 alt_id: HP:0008884 alt_id: HP:0008907 alt_id: HP:0008920 alt_id: HP:0008930 def: "A severe degree of short stature, more than -4 SD from the mean corrected for age and sex." [HPO:probinson] comment: The term severe short stature is to be preferred over dwarfism, which has been used in the past to refer to individuals with an adult height under 4 feet 10 inches (147 cm). synonym: "Dwarfism" EXACT [] synonym: "Proportionate dwarfism" EXACT [] synonym: "Short stature, severe" EXACT [HPO:skoehler] xref: UMLS:C0013336 "Dwarfism" xref: UMLS:C1855090 "Proportionate dwarfism" is_a: HP:0003508 ! Proportionate short stature [Term] id: HP:0003513 name: Reduced ratio of renal calcium clearance to creatinine clearance def: "A reduction of the ratio of renal calcium clearance to creatinine clearance to below 0.01." [HPO:probinson] is_a: HP:0011280 ! Abnormality of urine calcium concentration [Term] id: HP:0003514 name: Deficiency or absence of cytochrome b(-245) synonym: "Deficiency or absence of cytochrome b" EXACT [] is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003517 name: Birth length greater than 97th percentile is_a: HP:0000098 ! Tall stature [Term] id: HP:0003521 name: Disproportionate short-trunk short stature alt_id: HP:0001524 alt_id: HP:0003500 alt_id: HP:0008923 def: "A type of `disproportionate short stature` (HP:0003498) characterized by a short trunk but a average-sized limbs." [HPO:probinson] synonym: "Disproportionate short-trunked dwarfism" EXACT [] synonym: "Disproportionate short-trunked short stature" EXACT [] synonym: "Short trunk" EXACT [] synonym: "Short-trunked dwarfism" EXACT [] xref: UMLS:C0521527 "Short trunk" xref: UMLS:C1854763 "Short-trunked dwarfism" is_a: HP:0003498 ! Disproportionate short stature is_a: HP:0009121 ! Abnormal axial skeleton morphology [Term] id: HP:0003524 name: Decreased methionine synthase activity 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:C0268611 "methionine synthase deficiency" is_a: HP:0010901 ! Abnormality of methionine metabolism [Term] id: HP:0003526 name: Orotic acid crystalluria def: "Formation of crystals owing to an increased concentration of `orotic acid` (CHEBI:16742) in the urine (FMA:12274)." [HPO:probinson] is_a: HP:0010928 ! Abnormality of orotic acid metabolism [Term] id: HP:0003527 name: Hyperprostaglandinuria def: "An increased concentration of `prostaglandin` (CHEBI:26333) in the urine." [HPO:probinson] xref: UMLS:C1866498 "Hyperprostaglandinuria" is_a: HP:0011023 ! Abnormality of prostaglandin metabolism [Term] id: HP:0003528 name: Elevated calcitonin comment: Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone. xref: UMLS:C1868394 "Elevated calcitonin" is_a: HP:0100530 ! Abnormality of calcium-phosphate metabolism [Term] id: HP:0003529 name: Parathormone-independent renal tubular calcium reabsorption defect is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003530 name: Glutaric acidemia def: "An increased concentration of `glutaric acid` (CHEBI:17859) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C0268030 "Acidaemia" is_a: HP:0001941 ! Acidosis is_a: HP:0010995 ! Abnormality of dicarboxylic acid metabolism [Term] id: HP:0003532 name: Ornithinuria 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 comment: In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase. is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003534 name: Reduced xanthine dehydrogenase activity def: "An abnormal reduction in `xanthine dehydrogenase activity` (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 "XANTHINE DEHYDROGENASE DEFICIENCY" is_a: HP:0010933 ! Abnormality of xanthine metabolism [Term] id: HP:0003535 name: 3-Methylglutaconic aciduria comment: 3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine. xref: UMLS:C0278026 "Aciduria" is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0003355 ! Aminoaciduria [Term] id: HP:0003536 name: Decreased fumarate hydratase activity def: "An `abnormality of Krebs cycle metabolism` (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 "Decreased fumarate hydratase activity" is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism [Term] id: HP:0003537 name: Hypouricemia def: "An abnormally low level of uric acid in the blood." [HPO:curators] xref: UMLS:C0221333 "Hypouricaemia" is_a: HP:0004369 ! Decreased purine levels [Term] id: HP:0003538 name: Increased serum iduronate sulfatase activity 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 [] is_a: HP:0004355 ! Abnormality of proteoglycan metabolism [Term] id: HP:0003540 name: Impaired platelet aggregation alt_id: HP:0008177 def: "An abnormality in the rate and degree to which platelets aggregate after the addition of an agonist that stimulates platelet clumping. Platelet aggregation is measured using aggregometer to measure the optical density of platelet-rich plasma, whereby platelet aggregation causes the plasma to become more transparent." [DDD:wouwehand] synonym: "Abnormal platelet aggregation" EXACT [] synonym: "Defective platelet aggregation" EXACT [] synonym: "Deficient platelet aggregation" EXACT [] synonym: "Platelet aggregation defect" EXACT [] xref: UMLS:C0541767 "Abnormal platelet aggregation" is_a: HP:0011869 ! Abnormal platelet function [Term] id: HP:0003541 name: Urinary glycosaminoglycan excretion def: "Excretion of `glycosaminoglycan` (CHEBI:18085) in the `urine` (FMA:12274). Glycosaminoglycans are long unbranched polysaccharides consisting of a repeating disaccharide unit." [HPO:probinson] is_a: HP:0003110 ! Abnormality of urine homeostasis is_a: HP:0004371 ! Abnormality of glycosaminoglycan metabolism [Term] id: HP:0003542 name: Increased serum pyruvate 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 "Increased serum pyruvate" is_a: HP:0004366 ! Abnormality of glycolysis [Term] id: HP:0003546 name: Exercise intolerance xref: UMLS:C0241885 "Exercise intolerance" is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003547 name: Shoulder girdle muscle weakness alt_id: HP:0003695 alt_id: HP:0009009 def: "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [HPO:curators] synonym: "Muscle weakness, shoulder-girdle" EXACT [] synonym: "Shoulder girdle weakness" EXACT [] synonym: "Shoulder weakness" EXACT [] xref: UMLS:C0241035 "Shoulder girdle muscle weakness" is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003548 name: Subsarcolemmal accumulations of abnormally shaped mitochondria def: "An abnormally increased number of mitochondria in the cytoplasma adjacent to the sarcolemma (muscle cell membrane), whereby the mitochondria also possess an abnormal morphology." [HPO:probinson] comment: This finding can be demonstrated by electron microscopy. This finding is typical of mitochondrial myopathies. is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003549 name: Abnormality of connective tissue def: "Any abnormality of the soft tissues, including both connective tissue (tendons, ligaments, fascia, fibrous tissues, and fat)." [HPO:curators] is_a: HP:0000118 ! Phenotypic abnormality [Term] id: HP:0003550 name: Predominantly lower limb lymphedema def: "Localized fluid retention and tissue swelling caused by a compromised `lymphatic system` (FMA:7162), affecting mainly the legs." [HPO:probinson] is_a: HP:0001004 ! Lymphedema [Term] id: HP:0003551 name: Difficulty climbing stairs alt_id: HP:0007019 def: "Reduced ability to climb stairs." [HPO:probinson] synonym: "Difficulty walking up stairs" EXACT [] is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003552 name: Muscle stiffness alt_id: HP:0009014 def: "A condition in which muscles cannot be moved quickly without accompanying pain or spasm." [HPO:probinson] xref: UMLS:C0221170 "Muscle stiffness" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003553 name: Cellulitis due to immunodeficiency def: "The presence of cellulitis (a diffuse inflammation of connective tissue) on the basis of an immunodeficiency." [HPO:curators] is_a: HP:0002721 ! Immunodeficiency is_a: HP:0100658 ! Cellulitis [Term] id: HP:0003554 name: Type 2 muscle fiber atrophy def: "Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy." [HPO:probinson] comment: This finding can be demonstrated by muscle biopsy. synonym: "Type 2 fiber atrophy" EXACT [] is_a: HP:0100295 ! Muscle fiber atrophy [Term] id: HP:0003555 name: Muscle fiber splitting def: "Fiber splitting or branching is a common finding in human and rat skeletal muscle pathology. Fiber splitting refers to longitudinal halving of the complete fiber, while branching originates from a regenerating end of a necrotic fiber as invaginations of the sarcolemma. In fiber branching, one end of the fiber remains intact as a single entity, while the other end has several branches." [pmid:6123177] synonym: "Fiber splitting" EXACT [] synonym: "Fibre splitting" EXACT [] synonym: "Muscle fibre splitting" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003557 name: Increased variability in muscle fiber diameter alt_id: HP:0003556 def: "An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy." [HPO:curators] comment: This finding can be demonstrated by muscle biopsy. synonym: "Increased fiber size variation" EXACT [] synonym: "Increased variability in muscle fiber size" EXACT [] synonym: "Increased variation in fiber size" EXACT [] synonym: "Increased variation in muscle fiber size" EXACT [] synonym: "Variation in muscle fiber size" EXACT [] xref: UMLS:C1850833 "Increased fiber size variation" is_a: HP:0012084 ! Abnormality of skeletal muscle fiber size [Term] id: HP:0003558 name: Viral infection-induced rhabdomyolysis def: "`Rhabdomyolysis` (HP:0003201) induced by a viral infection." [HPO:probinson] is_a: HP:0003201 ! Rhabdomyolysis [Term] id: HP:0003559 name: Muscle hyperirritability xref: UMLS:C1853701 "Muscle hyperirritability" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003560 name: Muscular dystrophy alt_id: HP:0003544 alt_id: HP:0003806 def: "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators] comment: Muscular dystrophy can be demonstrated by muscle biopsy. xref: MeSH:D009136 "Muscular Dystrophies" xref: UMLS:C0026850 "Muscular Dystrophy" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003561 name: Birth length <3rd percentile synonym: "Birth length < 3rd percentile" EXACT [] synonym: "Birth length less than 3rd percentile" EXACT [] is_a: HP:0004322 ! Short stature [Term] id: HP:0003562 name: Abnormal metaphyseal vascular invasion is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003563 name: Hypobetalipoproteinemia def: "An decreased concentration of `low-density lipoprotein cholesterol` (CHEBI:47774) in the `blood` (FMA:9670)." [HPO:gcarletti] comment: Beta-lipoprotein cholesterol is a synonym for low-density lipoprotein (LDL) cholesterol. synonym: "Decreased LDL" RELATED [] xref: UMLS:C0020597 "Hypobetalipoproteinemia" is_a: HP:0010981 ! Hypolipoproteinemia [Term] id: HP:0003564 name: Folate-dependent fragile site at Xq28 def: "The presence of a folate sensitive fragile site at chromosome Xq28." [HPO:probinson] comment: Fragile sites can be defined as heritable specific loci on human chromosomes that exhibit non-random gaps, constrictions or breaks when chromosomes are exposed to specific cell culture conditions. Over 120 different fragile sites have been identified in the human genome. Some of these sites are sensitive to folate, that is, they can be induced by a culture medium deficient in folic acid and thymidine, and hence a medium with lowered levels of dTTP or dCTP, two immediate components of DNA, or by a medium enriched either in methotrexate, an inhibitor of folate metabolism, or in fluorodeoxyuridine, an inhibitor of thymidylate synthesis. The folate-dependent fragile phenotype occurs if more than a critical number of CCG/CGG repeats are present (e.g., > 230 repeats for FRAXA). is_a: HP:0003220 ! Abnormality of chromosome stability [Term] id: HP:0003565 name: Elevated erythrocyte sedimentation rate synonym: "Elevated sedimentation rate" EXACT [] synonym: "High erythrocyte sedimentation rate" EXACT [] synonym: "Increased erythrocyte sedimentation rate" EXACT [] synonym: "Raised erythrocyte sedimentation rate" EXACT [] xref: UMLS:C0151632 "Elevated erythrocyte sedimentation rate" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003566 name: Increased serum prostaglandin E2 alt_id: HP:0008298 def: "An increased concentration of `prostaglandin E2` (CHEBI:15551) in the blood." [HPO:probinson] synonym: "Elevated prostaglandin e2" EXACT [] is_a: HP:0011023 ! Abnormality of prostaglandin metabolism [Term] id: HP:0003568 name: Decreased glucosephosphate isomerase activity 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 [] is_a: HP:0004366 ! Abnormality of glycolysis [Term] id: HP:0003570 name: Molybdenum cofactor deficiency def: "Absence of `molybdenum cofactor(2-)` (CHEBI:60525), a cofactor for enzymes including sulfite oxidase, xanthine oxidoreductase, and aldehyde oxidase." [HPO:probinson] xref: UMLS:C0268119 "Molybdenum cofactor deficiency" is_a: HP:0001939 ! Abnormality of metabolism/homeostasis [Term] id: HP:0003571 name: Propionicacidemia is_a: HP:0001941 ! Acidosis [Term] id: HP:0003572 name: Low plasma citrulline def: "A decreased concentration of `citrulline` (CHEBI:18211) in the `blood` (FMA:9670)." [HPO:gcarletti] xref: UMLS:C1839532 "Low plasma citrulline" is_a: HP:0011965 ! Abnormality of citrulline metabolism [Term] id: HP:0003573 name: Increased total bilirubin alt_id: HP:0008168 def: "Increased concentration of total (conjugated and unconjugated) bilirubin in the blood." [HPO:probinson] synonym: "Increased bilirubin" EXACT [] xref: UMLS:C0741494 "Increased total bilirubin" is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0003574 name: Positive regitine blocking test def: "A positive response to the regitine blocking test consisting of a substantial reduction in blood pressure following administration of regitine, indicative of the presence of increased levels of epinephrine and norepinephrine in the circulation, which is seen in pheochromocytoma-associated hypertension." [HPO:probinson] comment: Regitine produces an alpha-adrenergic block of relatively short duration. In the regitine blocking test, regitine is injected rapidly and bood pressure is recorded immediately after injection, at 30-second intervals for the first 3 minutes, and at 60-second intervals for the next 7 minutes. A positive response to the reginitine blocking test is present when the blood pressure is reduced more than 35 mmHg systolic and 25 mmHg diastolic. A typical positive response is a reduction in pressure of 60 mmHg systolic and 25 mmHg diastolic. A positive response is suggestive of pheochromocytoma and should generally be confirmed by other diagnostic procedures such as measurement of urinary catecholamines or their metabolites. is_a: HP:0002640 ! Hypertension associated with pheochromocytoma [Term] id: HP:0003575 name: Increased intracellular sodium def: "An abnormally increased `sodium` (CHEBI:29101) concentration in the `cytosol` (FMA:66836)." [HPO:gcarletti] is_a: HP:0010931 ! Abnormality of sodium homeostasis [Term] id: HP:0003577 name: Congenital onset alt_id: HP:0003595 alt_id: HP:0003601 alt_id: HP:0003624 alt_id: HP:0003660 alt_id: HP:0003666 def: "A phenotypic abnormality that is present at birth." [HPO:probinson] comment: Congenital onset literally means present at birth. Congenital abnormalities are thus generally acquired during fetal development. Congenital abnormalities are often but not always hereditary in nature. Whether a disease manifestation is diagnosed to be intrauterine or congenital may depend on the time at which diagnostic procedures are performed. Thus, most congenital abnormalities are also intrauterine. synonym: "Intrauterine onset" EXACT [] synonym: "Onset at birth" EXACT [] synonym: "Onset in utero" EXACT [] synonym: "Prenatal onset " RELATED [HPO:curators] is_a: HP:0011007 ! Age of onset [Term] id: HP:0003581 name: Adult onset alt_id: HP:0003585 alt_id: HP:0003598 alt_id: HP:0003627 alt_id: HP:0003662 alt_id: HP:0003669 def: "Onset of disease manifestations in adulthood, defined here as at the age of 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 [] is_a: HP:0011007 ! Age of onset [Term] id: HP:0003584 name: Late onset def: "A type of `adult onset` with onset of symptoms after the age of 60 years." [HPO:probinson] is_a: HP:0003581 ! Adult onset [Term] id: HP:0003587 name: Insidious onset def: "Gradual, very slow onset of disease manifestations." [HPO:probinson] xref: UMLS:C1298634 is_a: HP:0011008 ! Speed of onset [Term] id: HP:0003593 name: Infantile onset alt_id: HP:0003576 alt_id: HP:0003579 alt_id: HP:0003591 alt_id: HP:0003594 alt_id: HP:0003599 alt_id: HP:0003600 alt_id: HP:0003629 alt_id: HP:0003631 alt_id: HP:0003667 alt_id: HP:0003672 alt_id: HP:0010573 def: "Onset of signs or symptoms of disease between 28 days to one year of life." [HPO:probinson] comment: Onset of signs or symptoms of disease within the first 24 months of life. synonym: "Onset in first year of life" EXACT [] synonym: "Onset in infancy" EXACT [] is_a: HP:0011007 ! Age of onset [Term] id: HP:0003596 name: Middle age onset def: "A type of `adult onset` with onset of symptoms at the age of 40 to 60 years." [HPO:probinson] comment: Middle age is of course not amenable to precise definitions. We suggest using this term for onset of disease symptoms between the age of 40 and 60 years. xref: UMLS:C1969363 is_a: HP:0003581 ! Adult onset [Term] id: HP:0003606 name: Absent urinary urothione def: "Lack of urothione (the urinary metabolite of molybdenum cofactor) in the urine." [HPO:probinson] comment: Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor. is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003607 name: 4-Hydroxyphenylacetic aciduria def: "Increased concentration of `4-hydroxyphenylacetic acid` (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 "Aciduria" is_a: HP:0010996 ! Abnormality of monocarboxylic acid metabolism [Term] id: HP:0003608 name: Increased urinary sodium def: "An increased concentration of `sodium(1+)` (CHEBI:29101) in the `urine` (FMA:12274)." [HPO:probinson] xref: UMLS:C0854101 "Increased urinary sodium" is_a: HP:0011865 ! Abnormal urine cation concentration [Term] id: HP:0003609 name: Foam cells with lamellar inclusion bodies def: "The presence of foam cells that contain lamellar inclusion bodies." [HPO:probinson] comment: Foam cells with lamellar inclusion bodies are thought to be a hallmark of cellular phospholipidosis, i.e., of the excess accumulation of phospholipids. This abnormality can be assayed by electron microscopy. is_a: HP:0003651 ! Foam cells [Term] id: HP:0003610 name: Fibroblast metachromasia def: "Increased cytoplasmic staining of fibroblasts with toluidine blue." [HPO:probinson, pmid:4195824] comment: Cultured fibroblasts from the genetic mucopolysaccharidoses store higher than normal amounts of glycosaminoglyeans. Histochemical stains such as toluidine blue and Alcian blue can be used to detect such intracellular glycosaminoglycans which, being negatively charged, are bound and precipitated by the cationic dyes. Cultured fibroblasts from homozygotes -and heterozygotes for the genetic mucopolysaccharidoses accumulate excessive quantities of glycosaminoglycans. The cytoplasmic staining with toluidine blue is referred to as metachromasia (pink) and orthochromasia (blue) and that with Alcian blue as alcianophilia. is_a: HP:0003653 ! Cellular metachromasia [Term] id: HP:0003612 name: Positive ferric chloride test def: "If positive, the ferric chloride test indicates an increased concentration of phenols in the urine or blood." [HPO:probinson] comment: The ferric chloride test indicates presence of high levels of phenylpyruvate in urine, because ferric ion forms a blue-green colored complex with phenylpyruvate. Some other compounds can also lead to a positive ferric chloride test. The ferric chloride test is no longer used in modern clinical practice, but this term is kept for historical reasons. is_a: HP:0010893 ! Abnormality of phenylalanine metabolism [Term] id: HP:0003613 name: Antiphospholipid antibody positivity def: "The presence of circulating autoantibodies to phospholipids." [HPO:probinson] comment: This group of autoantibodies comprises anticardiolipin, antiphosphatidylinositol, atiphosphatidylglycerol, and antiphosphatidylserine antibodies. synonym: "Antiphospholipid antibodies" EXACT [] synonym: "Antiphospholipid antibody" EXACT [] synonym: "Phospholipid antibody positivity" EXACT [] xref: MeSH:D017152 "Antibodies, Antiphospholipid" xref: UMLS:C0162595 "Antiphospholipid Antibody" is_a: HP:0002960 ! Autoimmunity [Term] id: HP:0003614 name: Trimethylaminuria def: "Increased concentration of `trimethylamine` (CHEBI:18139) in the urine." [HPO:probinson] comment: Increased concentration of trimethylamine, an organic amino compound with an oder characterized as that of rotting fish, in the urine. Trimethylaminuria is generally caused by impaired oxidation of trimethylamine into the odorless compound trimethylamine N-oxide. xref: UMLS:C0342739 "Trimethylaminuria" is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003616 name: Premature separation of centromeric heterochromatin is_a: HP:0200024 ! Premature chromatid separation [Term] id: HP:0003621 name: Juvenile onset alt_id: HP:0003578 alt_id: HP:0003580 alt_id: HP:0003582 alt_id: HP:0003583 alt_id: HP:0003589 alt_id: HP:0003592 alt_id: HP:0003604 alt_id: HP:0003619 alt_id: HP:0003620 alt_id: HP:0003625 alt_id: HP:0003659 alt_id: HP:0003661 alt_id: HP:0003670 def: "Onset of signs or symptoms of disease between the age of 5 and 15 years." [HPO:probinson] is_a: HP:0011007 ! Age of onset [Term] id: HP:0003623 name: Neonatal onset alt_id: HP:0003622 def: "Onset of signs or symptoms of disease within the first 28 days of life." [HPO:probinson] synonym: "Onset in first weeks of life" EXACT [] synonym: "Onset in neonatal period" EXACT [] is_a: HP:0011007 ! Age of onset [Term] id: HP:0003634 name: Generalized amyoplasia 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 [] is_a: HP:0100854 ! Aplasia of the musculature [Term] id: HP:0003635 name: Loss of subcutaneous adipose tissue in limbs alt_id: HP:0003757 synonym: "Loss of subcutaneous adipose tissue from extremities" EXACT [] is_a: HP:0008887 ! Adipose tissue loss [Term] id: HP:0003637 name: Reduced 4-Hydroxyphenylpyruvate dioxygenase activity def: "An abnormal reduction in `4-hydroxyphenylpyruvate dioxygenase activity` (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. is_a: HP:0010996 ! Abnormality of monocarboxylic acid metabolism [Term] id: HP:0003639 name: Elevated urinary epinephrine def: "An increased concentration of `adrenaline` (CHEBI:33568) in the `urine` (FMA:12274)." [HPO:probinson] synonym: "Increased urinary epinephrine" EXACT [] xref: UMLS:C1868393 "Increased urinary epinephrine" is_a: HP:0011976 ! Elevated urinary catecholamines [Term] id: HP:0003640 name: Foam cells in visceral organs and CNS is_a: HP:0003651 ! Foam cells [Term] id: HP:0003641 name: Hemoglobinuria def: "The presence of free hemoglobin in the urine." [HPO:probinson] comment: If, following hemolysis, haptoglobins (hemoglobin-binding proteins) are saturated, then free hemoglobin appears in the urine. xref: MeSH:D006456 "Hemoglobinuria" xref: UMLS:C1963124 "Hemoglobinuria" is_a: HP:0003110 ! Abnormality of urine homeostasis [Term] id: HP:0003642 name: Type I transferrin isoform profile def: "Abnormal transferrin isoform profile consistent with a type I congenital disorder of glycosylation." [HPO:probinson, pmid:15105360] comment: There are several methods in use with which this feature can be diagnosed. Using HPLC analysis an increased asialo- and disialotransferrin and reduced tetrasialotransferrin are observed. Using immunoaffinity column analysis, the mono-oligosaccharide/di-oligosaccharide transferrin ratio, and/or the a-oligosaccharide/di-oligosaccharide transferrin ratio are abnormal. synonym: "Abnormal isoelectric focusing of serum transferrin (type 1 pattern)" RELATED [] synonym: "Abnormal isoelectric focusing of serum transferrin, type I pattern" EXACT [] synonym: "Isoelectric focusing of serum transferrin consistent with CDG type I" EXACT [] is_a: HP:0003160 ! Abnormal isoelectric focusing of serum transferrin [Term] id: HP:0003643 name: Sulfite oxidase deficiency def: "Abnormally reduced `sulfite oxidase activity` (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 "Sulfite oxidase deficiency" is_a: HP:0004339 ! Abnormality of sulfur amino acid metabolism [Term] id: HP:0003645 name: Prolonged partial thromboplastin time def: "Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms." [HPO:probinson] synonym: "Abnormal partial thromboplastin time" EXACT [] synonym: "Delayed thromboplastin generation" EXACT [] synonym: "Partial thromboplastin time prolonged" EXACT [] synonym: "Prolonged activated partial thromboplastin time" EXACT [] xref: UMLS:C0240671 "Prolonged Partial Thromboplastin Time" is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003646 name: Bicarbonaturia def: "Abnormally increased concentration of `hydrogencarbonate` (CHEBI:17544) in the `urine` (FMA:12274)." [HPO:probinson] xref: UMLS:C1839865 "Bicarbonaturia" is_a: HP:0011279 ! Abnormality of urine bicarbonate concentration [Term] id: HP:0003647 name: Electron transfer flavoprotein-ubiquinone oxidoreductase defect is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003648 name: Lacticaciduria def: "An increased concentration of `lactic acid` (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 def: "Abnormality of `glycoside` (CHEBI:24400) metabolism." [HPO:probinson] comment: Glycosides are molecules with a suger moiety bound to some other moiety. is_a: HP:0011013 ! Abnormality of carbohydrate metabolism/homeostasis created_by: peter creation_date: 2008-03-08T08:32:00Z [Term] id: HP:0003651 name: Foam cells alt_id: HP:0003650 def: "The presence of foam cells, which cells in an atheroma that can be derived from either macrophages or smooth muscle cells that have taken up modified low density lipoprotein particles and thereby take on a foamy appearance." [HPO:probinson] comment: Foam cells may contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy. synonym: "Presence of foam cells" EXACT [] xref: MeSH:D005487 "Foam Cells" is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0003652 name: Recurrent myoglobinuria alt_id: HP:0008313 def: "Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue." [HPO:probinson] synonym: "Myoglobinuria, episodic" EXACT [] synonym: "Myoglobinuria, recurrent" EXACT [HPO:skoehler] is_a: HP:0000093 ! Proteinuria [Term] id: HP:0003653 name: Cellular metachromasia def: "Metachromasia (also known as metachromacy) is a characteristic color change which certain aniline dyes exhibit when bound to particular substances or when concentrated in solution. For example, the basic dye toluidine blue becomes distinctly pink when bound to cartilage matrix. In the sense used here, the metachromasia refers to a change in color not observed with normal tissues, anomalous staining with the cationic dyes toluidine blue O and Alcian blue resulting from excessive amounts of the polyanionic glycosaminoglycans." [HPO:probinson, pmid:4195824] comment: This investigation is no longer in common use. is_a: HP:0011020 ! Abnormality of mucopolysaccharide metabolism [Term] id: HP:0003654 name: Reduced dihydropyrimidine dehydrogenase activity def: "An abnormal reduction in `dihydropyrimidine dehydrogenase (NADP+) activity` (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:C1366555 "DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY" is_a: HP:0004353 ! Abnormality of pyrimidine metabolism [Term] id: HP:0003655 name: Reduced activity of N-acetylglucosaminyltransferase II 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 [] is_a: HP:0004367 ! Abnormality of glycoprotein metabolism [Term] id: HP:0003656 name: Decreased beta-glucocerebrosidase protein and activity comment: An enzyme that hydrolyzes beta-glucosides in cerebrosides. is_a: HP:0004344 ! Abnormality of cerebrosidase metabolism [Term] id: HP:0003657 name: Granular osmiophilic deposits (GROD) in cells is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003658 name: Hypomethioninemia def: "A decreased concentration of `methionine` (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:C1848555 "Decreased serum methionine" is_a: HP:0003112 ! Abnormality of serum amino acid levels is_a: HP:0010901 ! Abnormality of methionine metabolism [Term] id: HP:0003665 name: Amyotrophy of the musculature of the pelvis def: "Muscular atrophy affecting the muscles of the pelvis." [HPO:curators] is_a: HP:0008988 ! Pelvic girdle muscle atrophy created_by: peter creation_date: 2008-04-07T10:57:00Z [Term] id: HP:0003674 name: Onset alt_id: HP:0003618 alt_id: HP:0003630 alt_id: HP:0003663 alt_id: HP:0003664 def: "The age and speed of the first appearance of the signs or symptoms of an illness." [HPO:probinson] is_a: HP:0000004 ! Onset and clinical course [Term] id: HP:0003676 name: Progressive disorder xref: UMLS:C1864985 "Progressive disorder" is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003677 name: Slow progression alt_id: HP:0003675 alt_id: HP:0003681 synonym: "Slow disease progression" EXACT [] synonym: "Slowly progressive" EXACT [] synonym: "Slowly progressive disorder" EXACT [] xref: UMLS:C1847727 is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003678 name: Rapidly progressive synonym: "Rapid progression" EXACT [] is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003679 name: Pace of progression is_a: HP:0000004 ! Onset and clinical course [Term] id: HP:0003680 name: Nonprogressive disorder alt_id: HP:0003685 synonym: "Nonprogressive" EXACT [] synonym: "Nonprogressive course" EXACT [] is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003682 name: Variable progression rate is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003683 name: Large beaked nose is_a: HP:0000444 ! Convex nasal ridge [Term] id: HP:0003687 name: Centrally nucleated skeletal muscle fibers def: "An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells)." [HPO:probinson] comment: Normally, the nuclei of muscle cells are located peripherally, immediately under the plasma membrane (sarcolemma). synonym: "Central nuclei" EXACT [] synonym: "Centralized nuclei" EXACT [] synonym: "Centralized sarcomeric nuclei" EXACT [] xref: UMLS:C1842170 "Centralized nuclei" is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003688 name: Decreased activity of cytochrome C oxidase in muscle tissue alt_id: HP:0003734 alt_id: HP:0009006 def: "An abnormally reduced activity of the enzyme cytochrome C oxidase in muscle tissue." [HPO:probinson] comment: This abnormality can be assayed by muscle biopsy. Cytochrome C oxidase is an enzyme of the respiratory electron transport chain of mitochondria that is located in the mitochondrial membrane. synonym: "Cytochrome c oxidase deficiency in skeletal muscle" EXACT [] synonym: "Decreased skeletal muscle cytochrome c oxidase activity" EXACT [] is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003689 name: Multiple mitochondrial DNA deletions alt_id: HP:0003801 def: "The presence of multiple deletions of mitochondrial DNA (mtDNA)." [HPO:probinson] comment: This feature can be demonstrated by muscle biopsy. synonym: "Multiple mitochondrial DNA (mtDNA) deletions" EXACT [] is_a: HP:0009141 ! Depletion of mitochondrial DNA in muscle tissue [Term] id: HP:0003690 name: Limb muscle weakness alt_id: HP:0002534 def: "Reduced strength and weakness of the muscles of the arms and legs." [HPO:sdoelken] synonym: "Limb weakness" EXACT [] xref: UMLS:C1835991 "Limb muscle weakness" is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003691 name: Scapular winging alt_id: HP:0000783 def: "Abnormal protrusion of the scapula away from the surface of the back." [HPO:probinson] synonym: "Scapula alata" EXACT [] synonym: "Winged scapulae" EXACT [] synonym: "Winged scapulas" EXACT [] xref: UMLS:C1842064 "Scapular winging" is_a: HP:0000782 ! Abnormality of the scapula is_a: HP:0001435 ! Abnormality of the shoulder girdle musculature [Term] id: HP:0003693 name: Distal amyotrophy alt_id: HP:0002484 alt_id: HP:0002934 alt_id: HP:0003486 alt_id: HP:0003699 alt_id: HP:0006786 alt_id: HP:0006864 alt_id: HP:0008937 alt_id: HP:0008958 alt_id: HP:0009015 alt_id: HP:0009040 alt_id: HP:0009065 def: "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] comment: Most polyneuropathies affect distal lower extremity miuscles early on. Polyneuropathies are roughly symmeetric in distribution and tend to affect nerves in a length-dependent manner, with the longest nerves first (stocking-glove distribution). synonym: "Amyotrophy of distal limb muscles" EXACT [] synonym: "Distal amyotrophy, especially of the hands and feet" EXACT [] synonym: "Distal limb muscle atrophy" EXACT [] synonym: "Distal muscle atrophy" EXACT [] synonym: "Distal muscle atrophy, upper and lower limbs" EXACT [] synonym: "Distal muscle wasting" EXACT [] synonym: "Distal muscular atrophy" EXACT [] synonym: "Muscle atrophy, distal" EXACT [] xref: UMLS:C1836019 "Distal amyotrophy" is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003694 name: Late-onset proximal muscle weakness def: "Lack of strength of the proximal musculature occuring late in the clinical course." [HPO:curators] is_a: HP:0003701 ! Proximal muscle weakness [Term] id: HP:0003696 name: Absent epiphysis of the distal phalanx of the 5th finger def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger is_a: HP:0010246 ! Absent epiphyses of the distal phalanges of the hand created_by: peter creation_date: 2008-12-22T01:37:43Z [Term] id: HP:0003697 name: Scapuloperoneal amyotrophy alt_id: HP:0006920 alt_id: HP:0008957 def: "Muscular atrophy in the distribution of shoulder girdle and peroneal muscles." [HPO:probinson] synonym: "Scapuloperoneal atrophy" EXACT [] xref: UMLS:C1842162 "Scapuloperoneal atrophy" xref: UMLS:C1867005 "AMYOTROPHY, SCAPULOPERONEAL" is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003698 name: Difficulty standing synonym: "Difficulty in standing" EXACT [] xref: UMLS:C0241237 "Difficulty standing" is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003700 name: Generalized amyotrophy alt_id: HP:0008977 alt_id: HP:0008987 alt_id: HP:0008996 alt_id: HP:0009043 alt_id: HP:0009052 alt_id: HP:0009068 alt_id: HP:0009074 def: "Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles." [HPO:probinson] synonym: "Diffuse amyotrophy" EXACT [] synonym: "Diffuse muscle atrophy" EXACT [] synonym: "Diffuse muscle wasting" EXACT [] synonym: "Diffuse skeletal muscle wasting" EXACT [] synonym: "Generalized muscle atrophy" EXACT [] synonym: "Muscle atrophy, diffuse" EXACT [] synonym: "Muscle atrophy, generalized" EXACT [] synonym: "Muscular atrophy, generalized" EXACT [] xref: UMLS:C1389113 "Diffuse muscle atrophy" xref: UMLS:C1832674 "Generalized amyotrophy" is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003701 name: Proximal muscle weakness alt_id: HP:0003432 alt_id: HP:0003475 alt_id: HP:0007195 alt_id: HP:0008950 alt_id: HP:0008961 alt_id: HP:0008975 alt_id: HP:0009033 alt_id: HP:0009075 def: "A lack of strength of the proximal muscles." [HPO:probinson] synonym: "Muscle weakness, proximal" EXACT [] synonym: "Proximal limb muscle weakness" EXACT [] synonym: "Proximal limb weakness" EXACT [] synonym: "Proximal neurogenic muscle weakness" RELATED [] xref: UMLS:C0221629 "Proximal muscle weakness" xref: UMLS:C1838869 "Proximal neurogenic muscle weakness" is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003704 name: Scapuloperoneal weakness synonym: "Neurogenic scapuloperoneal syndrome" EXACT [] xref: UMLS:C1842161 "Scapuloperoneal weakness" is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003707 name: Calf muscle pseudohypertrophy def: "Enlargement of the muscles of the calf due to their replacement by connective tissue or fat." [HPO:probinson] comment: Pseudohypertrophy of the calf musculature is commonly seen in certain muscular dystrophies but also with spinal muscular atrophy and other denervating conditions. synonym: "Pseudohypertrophy of the calves" EXACT [] xref: UMLS:C1839666 "Calf muscle pseudohypertrophy" is_a: HP:0001430 ! Abnormality of the calf musculature [Term] id: HP:0003710 name: Exercise-induced muscle cramps alt_id: HP:0008983 alt_id: HP:0009000 def: "Sudden and involuntary contractions of one or more muscles brought on by physical exertion." [HPO:probinson] synonym: "Exercise-induced muscle cramping" EXACT [] synonym: "Muscle cramps following exercise" EXACT [] synonym: "Muscle cramps on exercise" EXACT [] synonym: "Muscle cramps on exertion" EXACT [] synonym: "Muscle cramps with exertion" EXACT [] is_a: HP:0003394 ! Muscle cramps [Term] id: HP:0003712 name: Muscle hypertrophy def: "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators] synonym: "Hypertrophic muscles" EXACT [] synonym: "Muscular hypertrophy" EXACT [] xref: UMLS:C0236033 "Muscle hypertrophy" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003713 name: Muscle fiber necrosis alt_id: HP:0003726 def: "Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers." [HPO:curators] xref: UMLS:C1850848 "Muscle fiber necrosis" is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003715 name: Myofibrillar myopathy def: "Myofibrillar structural changes characterized by abnormal intracellular accumulation of the intermediate filament desmin and other proteins." [HPO:probinson] comment: This feature is demonstrated by muscle biopsy. synonym: "Myofibrillar changes" EXACT [] is_a: HP:0003198 ! Myopathy [Term] id: HP:0003716 name: Generalized muscular appearance from birth is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003717 name: Minimal subcutaneous fat xref: UMLS:C1859442 "Minimal subcutaneous fat" is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0003719 name: Muscle mounding comment: Transient swelling of muscle induced by percussion. xref: UMLS:C1853702 "Muscle mounding" is_a: HP:0010548 ! Percussion myotonia [Term] id: HP:0003720 name: Generalized muscle hypertrophy def: "Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution." [HPO:curators] xref: UMLS:C1858125 "Generalized muscle hypertrophy" is_a: HP:0003712 ! Muscle hypertrophy [Term] id: HP:0003722 name: Neck flexor weakness alt_id: HP:0000469 def: "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)." [HPO:curators] synonym: "Neck flexion weakness" EXACT [] synonym: "Neck flexor muscle weakness" EXACT [] xref: UMLS:C1864575 "Neck flexor weakness" is_a: HP:0000467 ! Neck muscle weakness [Term] id: HP:0003724 name: Shoulder girdle muscle atrophy def: "Amyotrophy affecting the muscles of the shoulder girdle." [HPO:curators] synonym: "Shoulder girdle atrophy" EXACT [] synonym: "Shoulder girdle muscle wasting" EXACT [] synonym: "Shoulder-girdle muscle atrophy" EXACT [] xref: UMLS:C1847766 "Shoulder girdle muscle atrophy" is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0003725 name: Firm muscles xref: UMLS:C1850656 "Firm muscles" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003729 name: Enteroviral dermatomyositis syndrome xref: UMLS:C1844002 "Enteroviral dermatomyositis syndrome" is_a: HP:0002743 ! Recurrent enteroviral infections [Term] id: HP:0003730 name: EMG: myotonic runs def: "Spontaneous, repetitive electrical activity demonstrated by electromyography (EMG)." [HPO:probinson] comment: This is a characteristic abnormality seen in the myotonias and periodic paralyses. synonym: "EMG: spontaneous, repetitive electrical activity" RELATED [] is_a: HP:0002486 ! Myotonia [Term] id: HP:0003731 name: Quadriceps muscle weakness def: "Weakness of the quadriceps muscle (that is, of the muscle fasciculus of quadriceps femoris)." [HPO:curators] synonym: "Quadriceps weakness" EXACT [] xref: UMLS:C1842817 "Quadriceps muscle weakness" is_a: HP:0008994 ! Proximal muscle weakness in lower limbs [Term] id: HP:0003733 name: Thigh hypertrophy def: "Muscle hypertrophy affecting the thighs." [HPO:probinson] xref: UMLS:C1846674 "Thigh hypertrophy" is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities [Term] id: HP:0003736 name: Autophagic vacuoles def: "The lysosomal-vacuolar pathway has a role in the controlled intracellular digestion of macromolecules such as protein complexes and organelles. This feature refers to the presence of an abnormally increased number of autophagic vacuoles in muscle tissue." [HPO:probinson, pmid:17027858] xref: UMLS:C0544966 "Autophagic vacuoles" is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003737 name: Mitochondrial myopathy alt_id: HP:0008960 def: "A type of myopathy associated with mitochondrial disease and characterized by findings on biopsy such as ragged red muscle fibers." [HPO:probinson] comment: This is a bundled term that should not be used for future annotations. xref: MeSH:D017240 "Mitochondrial Myopathies" xref: UMLS:C0162670 "MITOCHONDRIAL MYOPATHY" is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003738 name: Exercise-induced myalgia def: "The occurrence of an unusually high amount of muscle pain following exercise." [HPO:probinson] synonym: "Exercise-induced muscle pain" EXACT [] synonym: "Muscle pain on exercise" EXACT [] synonym: "Muscle pain with exercise" EXACT [] synonym: "Muscle pain, exercise-induced" EXACT [] xref: UMLS:C1850680 "Exercise-induced myalgia" is_a: HP:0003326 ! Myalgia [Term] id: HP:0003739 name: Myoclonic spasms xref: UMLS:C0037763 "SPASMS" is_a: HP:0001336 ! Myoclonus [Term] id: HP:0003740 name: Myotonia with warm-up phenomenon def: "Myotonia that occurs after a period of rest and decreases with continuing exercise." [HPO:probinson, pmid:7678441] is_a: HP:0002486 ! Myotonia [Term] id: HP:0003741 name: Congenital muscular dystrophy alt_id: HP:0003793 synonym: "Muscular dystrophy, congenital" EXACT [] xref: UMLS:C0699743 "Congenital muscular dystrophy" is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0003743 name: Genetic anticipation def: "A `mode of inheritance` (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: MeSH:D020132 "Anticipation, Genetic" is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0003744 name: Genetic anticipation with paternal anticipation bias 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 alt_id: HP:0001420 alt_id: HP:0003747 alt_id: HP:0003769 def: "Cases of the disease in question occur without a previous family history, i.e., as isolated cases without being transmitted from a parent and without other siblings being affected." [HPO:probinson] synonym: "Isolated cases" EXACT [] xref: UMLS:C0205422 "Sporadic" is_a: HP:0000005 ! Mode of inheritance [Term] id: HP:0003749 name: Pelvic girdle muscle weakness alt_id: HP:0003692 alt_id: HP:0008999 alt_id: HP:0009036 def: "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis." [HPO:probinson] synonym: "Hip girdle muscle weakness" EXACT [] synonym: "Hip girdle weakness" EXACT [] synonym: "Hip-girdle muscle weakness" EXACT [] synonym: "Pelvic girdle weakness" EXACT [] xref: UMLS:C1846673 "Hip girdle weakness" is_a: HP:0001445 ! Abnormality of the hip-girdle musculature is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003750 name: Increased muscle fatiguability def: "An abnormal, increased fatiguability of the musculature." [HPO:curators] synonym: "Muscle fatigue" RELATED [] xref: UMLS:C0242979 "Muscle Fatigue" is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003752 name: Episodic flaccid weakness def: "Recurrent episodes of muscle flaccidity, a type of paralysis in which a muscle becomes soft and yields to passive stretching." [HPO:probinson] is_a: HP:0010547 ! Muscle flaccidity [Term] id: HP:0003755 name: Type 1 fibers relatively smaller than type 2 fibers def: "The presence of abnormal muscle fiber size such that type 1 fibers are smaller than type 2 fibers." [HPO:curators] comment: This feature can only be observed on muscle biopsy. is_a: HP:0012084 ! Abnormality of skeletal muscle fiber size [Term] id: HP:0003756 name: Skeletal myopathy xref: UMLS:C1844915 "Skeletal myopathy" is_a: HP:0003198 ! Myopathy [Term] id: HP:0003758 name: Reduced subcutaneous adipose tissue def: "The presence of an abnormally reduced amount of `subcutaneous adipose tissue` (FMA:74315)." [HPO:probinson] synonym: "Decreased subcutaneous adipose tissue" EXACT [] synonym: "Reduced subcutaneous fat" EXACT [] synonym: "Scanty adipose tissue" EXACT [] xref: UMLS:C1857657 "Decreased subcutaneous adipose tissue" is_a: HP:0009124 ! Abnormality of adipose tissue [Term] id: HP:0003759 name: Hypoplasia of lymphatic vessels def: "Congenital underdevelopment of lymph vessels." [HPO:probinson] comment: This feature can be demonstrated by lymphography. is_a: HP:0100766 ! Abnormality of the lymphatic vessels [Term] id: HP:0003760 name: Percussion-induced rapid rolling muscle contractions (PIRC) is_a: HP:0010548 ! Percussion myotonia [Term] id: HP:0003761 name: Calcinosis def: "Formation of calcium deposits in any soft tissue." [HPO:probinson] xref: MeSH:D002114 "Calcinosis" xref: UMLS:C0006663 "Calcinosis" is_a: HP:0011805 ! Abnormality of muscle morphology [Term] id: HP:0003762 name: Uterus didelphys def: "A malformation of the `uterus` (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 "Uterus didelphys" is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0003763 name: Bruxism def: "Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep." [HPO:sdoelken] xref: MeSH:D002012 "Bruxism" xref: UMLS:C0006325 "Bruxism" is_a: HP:0002360 ! Sleep disturbance [Term] id: HP:0003764 name: Nevus def: "A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin." [HPO:probinson] comment: The word Nevus derives from the Latin word Knee-vus meaning birthmark or mole. synonym: "Naevi" RELATED [] synonym: "Naevus" EXACT [] synonym: "Nevi" RELATED [] xref: MeSH:D009506 "Nevus" is_a: HP:0011355 ! Localized skin lesion [Term] id: HP:0003765 name: Psoriasis def: "A skin abnormality characterized by redness and irritation, with thick, red skin that displays flaky, silver-white patches (scales)." [HPO:probinson] xref: MeSH:D011565 xref: UMLS:C0033860 "Psoriasis" is_a: HP:0011123 ! Inflammatory abnormality of the skin [Term] id: HP:0003768 name: Periodic paralysis synonym: "Episodic paralysis" EXACT [] xref: UMLS:C0030443 "Periodic paralysis" is_a: HP:0003470 ! Paralysis [Term] id: HP:0003771 name: Pulp stones def: "Multiple punctate calcifications in the `dental pulp` (FMA:55631)." [HPO:ibailleulforestier] xref: UMLS:C1527284 "Pulp stones" is_a: HP:0006479 ! Abnormality of the dental pulp [Term] id: HP:0003774 name: End stage renal disease alt_id: HP:0000101 alt_id: HP:0004725 alt_id: HP:0004733 def: "A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine." [HPO:probinson] comment: Equivalent with the National Kidney Foundation's definition of stage 5 chronic kidney disease. synonym: "Chronic renal failure" EXACT [] synonym: "End stage renal failure" EXACT [] synonym: "End-stage renal disease" EXACT [] synonym: "End-stage renal failure" EXACT [HPO:skoehler] synonym: "Stage 5 chronic kidney disease" EXACT [] xref: MeSH:D007676 "Kidney Failure, Chronic" xref: UMLS:C0022661 "Renal Failure, End-Stage" is_a: HP:0000083 ! Renal insufficiency [Term] id: HP:0003777 name: Pili torti def: "Pili (from Latin pilus, hair) torti (from Latin tortus, twisted) refers to short and brittle hairs that appear flattened and twisted when viewed through a microscope." [HPO:curators] xref: UMLS:C0263491 "Pili torti" is_a: HP:0003328 ! Abnormal hair laboratory examination [Term] id: HP:0003778 name: Short mandibular rami alt_id: HP:0005447 synonym: "Short body and ramus of mandible" EXACT [] synonym: "Short mandibular ramus" EXACT [] synonym: "Underdeveloped mandibular rami" EXACT [] xref: UMLS:C1865316 "Short mandibular rami" is_a: HP:0000347 ! Micrognathia [Term] id: HP:0003779 name: Antegonial notching of mandible is_a: HP:0010753 ! Midline defect of mandible [Term] id: HP:0003781 name: Excessive salivation xref: UMLS:C0037036 "Excessive salivation" is_a: HP:0100755 ! Abnormality of salivation [Term] id: HP:0003782 name: Eunuchoid habitus def: "A body habitus that is tall, slim and underweight, with long legs and long arms (i.e., arm span exceeds height by 5 cm or more)." [HPO:probinson] xref: UMLS:C0151721 "Eunuchoidism" is_a: HP:0004323 ! Abnormality of body weight [Term] id: HP:0003783 name: Externally rotated/abducted legs is_a: HP:0002814 ! Abnormality of the lower limb [Term] id: HP:0003784 name: Type 1 collagen overmodification xref: UMLS:C1970463 "Type collagen overmodification" is_a: HP:0011862 ! Abnormal bone collagen fibril morphology [Term] id: HP:0003785 name: Decreased CSF homovanillic acid (HVA) is_a: HP:0002921 ! Abnormality of the cerebrospinal fluid [Term] id: HP:0003787 name: Type 1 and type 2 muscle fiber minicore regions def: "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in type 1 and type 2 muscle fibers." [HPO:probinson] is_a: HP:0003789 ! Minicore (multicore) myopathy [Term] id: HP:0003789 name: Minicore (multicore) myopathy alt_id: HP:0003804 def: "Multiple small zones of sarcomeric disorganization and lack of oxidative activity (known as minicores) in muscle fibers." [HPO:probinson] is_a: HP:0003198 ! Myopathy [Term] id: HP:0003791 name: Deposits immunoreactive to beta-amyloid protein is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003795 name: Short middle phalanx of toe def: "Developmental hypoplasia (shortening) of `middle phalanx of toe` (FMA:75829)." [HPO:probinson] synonym: "Short middle phalanges (feet)" EXACT [] is_a: HP:0001831 ! Short toe [Term] id: HP:0003796 name: Irregular iliac crest def: "Irregularity of the iliac crest, which is the superior border of the wing of the ilium." [HPO:curators] xref: UMLS:C1855180 "Irregular iliac crest" is_a: HP:0002867 ! Abnormality of the ilium [Term] id: HP:0003797 name: Limb-girdle muscle atrophy def: "Muscular atrophy affecting the muscles of the limb girdle." [HPO:curators] xref: UMLS:C1842552 "Limb-girdle muscle atrophy" is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003798 name: Nemaline bodies def: "Nemaline rods are abnormal bodies that can occur in skeletal muscle fibers. The rods can be observed on histological analysis of muscle biopsy tissue or upon electron microscopy, where they appear either as extensions of sarcomeric Z-lines, in random array without obvious attachment to Z-lines (often in areas devoid of sarcomeres) or in large clusters localized at the sarcolemma or intermyofibrillar spaces." [HPO:curators, PMID:11333380] comment: This finding can be demonstrated by muscle biopsy, which shows nemaline bodies (rods) on Gomori trichrome staining. synonym: "Nemaline rods" EXACT [] is_a: HP:0100303 ! Muscle fiber cytoplasmatic inclusion bodies [Term] id: HP:0003799 name: Marked delay in bone age alt_id: HP:0005742 alt_id: HP:0005843 synonym: "Marked retardation in skeletal maturation" EXACT [] synonym: "Markedly retarded bone age" EXACT [] is_a: HP:0002750 ! Delayed skeletal maturation [Term] id: HP:0003800 name: Muscle abnormality related to mitochondrial dysfunction is_a: HP:0003011 ! Abnormality of the musculature [Term] id: HP:0003803 name: Type 1 muscle fiber predominance alt_id: HP:0003721 alt_id: HP:0003807 def: "An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy)." [HPO:probinson] comment: This finding is demonstrated by muscle biopsy. synonym: "Type I muscle fiber predominance" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003805 name: Rimmed vacuoles alt_id: HP:0009029 def: "Presence of abnormal vacuoles (membrane-bound organelles) in the sarcolemma. On histological staining with hematoxylin and eosin, rimmed vacuoles are popcorn-like clear vacuoles with a densely blue rim. The vacuoles are often associated with cytoplasmic and occasionally intranuclear eosinophilic inclusions." [HPO:probinson] comment: Rimmed vacuoles are characteristic for inclusion-bosy myositis, but are also seen an a number of other diseases. This term implies that rimmed vacuoles are found histologically. In some cases, the majority of muscle fibers are involved, but in others, rimmed vacuoles can be found in only a minority of fibers. synonym: "'rimmed vacuoles' on biopsy" EXACT [] synonym: "'rimmed' vacuoles on biopsy" EXACT [] xref: UMLS:C0333773 "Rimmed vacuoles" is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003808 name: Abnormal muscle tone is_a: HP:0011804 ! Abnormality of muscle physiology [Term] id: HP:0003809 name: Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) is_a: HP:0009124 ! Abnormality of adipose tissue [Term] id: HP:0003810 name: Late-onset distal muscle weakness alt_id: HP:0003728 is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0003811 name: Neonatal death alt_id: HP:0003820 alt_id: HP:0003824 def: "Death within the first 28 days of life." [HPO:probinson] synonym: "Neonatal lethal" EXACT [] is_a: HP:0011420 ! Death [Term] id: HP:0003812 name: Phenotypic variability alt_id: HP:0003813 alt_id: HP:0003815 alt_id: HP:0003821 alt_id: HP:0003822 def: "A variability of phenotypic features." [HPO:probinson] comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. synonym: "CLINICAL HETEROGENEITY" EXACT [HPO:skoehler] synonym: "Highly variable clinical phenotype" EXACT [] synonym: "Highly variable phenotype" EXACT [] synonym: "Highly variable phenotype and severity" EXACT [] synonym: "Highly variable phenotype, even within families" EXACT [] synonym: "Variable phenotype" EXACT [] synonym: "Variable phenotypic severity" EXACT [] is_a: HP:0000004 ! Onset and clinical course [Term] id: HP:0003819 name: Death in childhood alt_id: HP:0001432 alt_id: HP:0004149 def: "Death in during childhood, defined here as between the ages of 2 and 10 years." [HPO:probinson] xref: UMLS:C1836407 is_a: HP:0011420 ! Death [Term] id: HP:0003826 name: Stillbirth alt_id: HP:0001624 alt_id: HP:0001625 def: "Death of the fetus in utero after at least 20 weeks of gestation." [HPO:probinson] synonym: "Stillborn" EXACT [] xref: MeSH:D050497 "Stillbirth" xref: UMLS:C0595939 "Stillbirth" is_a: HP:0011420 ! Death [Term] id: HP:0003828 name: Variable expressivity alt_id: HP:0003814 alt_id: HP:0003825 def: "A variable severity of phenotypic features." [HPO:probinson] comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. synonym: "Variable severity" EXACT [] is_a: HP:0003812 ! Phenotypic variability [Term] id: HP:0003829 name: Incomplete penetrance alt_id: HP:0003830 def: "A situation in which mutation carriers do not show clinically evident phenotypic abnormalities." [HPO:probinson] comment: This term can be applied to disease entities but not to individuals. It may be made obsolete in future versions of the HPO. synonym: "Reduced penetrance" EXACT [] is_a: HP:0003812 ! Phenotypic variability [Term] id: HP:0003831 name: Age-dependent penetrance def: "A situation in which phenotypic abnormalities become evident with age." [HPO:probinson] synonym: "Age dependent penetrance" EXACT [] xref: UMLS:C1835978 is_a: HP:0003829 ! Incomplete penetrance [Term] id: HP:0003832 name: Abnormality of the tibial plateaux is_a: HP:0002992 ! Abnormality of the tibia [Term] id: HP:0003833 name: Laterally deficient tibial plateaux is_a: HP:0003832 ! Abnormality of the tibial plateaux [Term] id: HP:0003834 name: Shoulder dislocation def: "A displacement or misalignment of the humerus with respect to the other bones of the should joint. Note that a subluxation is a partial dislocation." [HPO:curators] xref: MeSH:D012783 "Shoulder Dislocation" xref: UMLS:C0037005 "Shoulder Dislocation" is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003835 name: Shoulder subluxation def: "A partial dislocation of the shoulder joint." [HPO:curators] is_a: HP:0003834 ! Shoulder dislocation [Term] id: HP:0003836 name: Stippled calcification of the shoulder is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003837 name: Soft-tissue ossification around the shoulders def: "Formation of calcified tissue in the soft tissues surrounding the shoulder." [HPO:probinson] is_a: HP:0011986 ! Ectopic ossification [Term] id: HP:0003839 name: Abnormality involving the epiphyses of the upper limbs alt_id: HP:0003845 synonym: "Epihyseal plate abnormality of the upper limbs" EXACT [] is_a: HP:0002817 ! Abnormality of the upper limb is_a: HP:0006505 ! Abnormality involving the epiphyses of the limbs [Term] id: HP:0003840 name: Delayed upper limb epiphyseal ossification def: "A delay in the process of formation and maturation of the `epiphysis` (FMA:24012) of one or more long bones of the upper limbs." [HPO:probinson] is_a: HP:0002663 ! Delayed epiphyseal ossification is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003841 name: Fragmented epiphyses of the upper limbs is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs is_a: HP:0100168 ! Fragmented epiphyses [Term] id: HP:0003842 name: Irregular epiphyses of the upper limbs is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs is_a: HP:0010582 ! Irregular epiphyses [Term] id: HP:0003843 name: Round epiphyses of the upper limbs is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003844 name: Small epiphyses of the upper limbs is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs is_a: HP:0010585 ! Small epiphyses [Term] id: HP:0003846 name: Wide epiphyseal plates of the upper limbs synonym: "Broad epiphyseal plates of the upper limbs" EXACT [] is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003848 name: Cupped metaphyses of the upper limbs is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003849 name: Flared metaphyses of the upper limbs is_a: HP:0003015 ! Flared metaphyses is_a: HP:0003856 ! Upper limb metaphyseal widening is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003850 name: Irregular metaphyses of the upper limbs is_a: HP:0003025 ! Irregular metaphyses is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003851 name: Lytic defects in metaphyses of the upper limbs is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003852 name: Normal density transverse bands in metaphyses of the upper limbs is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003853 name: Sclerosis with transverse striations in metaphyses of the upper limbs is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs [Term] id: HP:0003854 name: Sclerosis of metaphyses of the upper limbs is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003855 name: Spurred metaphyses of the upper limbs is_a: HP:0005054 ! Metaphyseal spurs is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003856 name: Upper limb metaphyseal widening def: "Increased width (breadth) of metaphyses of the arms." [HPO:probinson] synonym: "Wide/broad metaphyses of the upper limbs" EXACT [] is_a: HP:0003016 ! Metaphyseal widening is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003858 name: Cortical diaphyseal irregularity of the upper limbs is_a: HP:0009808 ! Abnormality involving the diaphyses of the upper limbs [Term] id: HP:0003859 name: Cortical diaphyseal thickening of the upper limbs is_a: HP:0009808 ! Abnormality involving the diaphyses of the upper limbs [Term] id: HP:0003860 name: Diaphyseal sclerosis of the upper limbs is_a: HP:0003034 ! Diaphyseal sclerosis is_a: HP:0009808 ! Abnormality involving the diaphyses of the upper limbs [Term] id: HP:0003861 name: Broad diaphyses of the upper limbs synonym: "Wide diaphyses of the upper limbs" EXACT [] is_a: HP:0009808 ! Abnormality involving the diaphyses of the upper limbs [Term] id: HP:0003862 name: Absent humerus def: "Missing humerus bone associated with congenital failure of development." [HPO:probinson] synonym: "Aplasia of the humerus" EXACT [] synonym: "Aplastic humerus" EXACT [] is_a: HP:0006507 ! Aplasia/Hypoplasia of the humerus is_a: HP:0011849 ! Abnormal bone ossification [Term] id: HP:0003863 name: Angulated humerus is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003864 name: Bifid humerus def: "Clefting affecting the humerus." [HPO:curators] is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003865 name: Bowed humerus def: "A bending or abnormal curvature of the `humerus` (FMA:13303)." [HPO:probinson] synonym: "Bowing of the humerus" EXACT [] synonym: "Humeral bowing" EXACT [] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0006488 ! Bowing of the arm [Term] id: HP:0003866 name: Coarse trabeculae (humeral) is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003867 name: Cortical irregularity (humeral) is_a: HP:0005731 ! Cortical irregularity is_a: HP:0010629 ! Abnormality of the cortex of the humerus [Term] id: HP:0003868 name: Cortical thickening (humeral) is_a: HP:0000935 ! Thickened cortex of long bones is_a: HP:0010629 ! Abnormality of the cortex of the humerus [Term] id: HP:0003869 name: Cortical thinning (humeral) is_a: HP:0002753 ! Thin bony cortex is_a: HP:0010629 ! Abnormality of the cortex of the humerus [Term] id: HP:0003870 name: Crumpled humerus alt_id: HP:0003873 xref: UMLS:C0020162 "fractured humerus" is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003871 name: Deformed humerus is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003872 name: Exostoses (humeral) is_a: HP:0002762 ! Multiple exostoses is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003874 name: Humerus varus is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003875 name: Lytic defects (humeral) is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003876 name: Osteoporotic humerus is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003877 name: Oval transradiancy (humeral) is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003878 name: Periosteal new bone (humeral) is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003879 name: Pseudarthrosis (humeral) is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003880 name: Sclerotic foci of the humerus synonym: "Sclerotic foci (humeral)" EXACT [] is_a: HP:0003881 ! Humeral sclerosis [Term] id: HP:0003881 name: Humeral sclerosis synonym: "Sclerosis (humeral)" EXACT [] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0006392 ! Increased density of long bones [Term] id: HP:0003882 name: Slender humerus def: "Reduction in diameter of the `humerus` (FMA:13303)." [HPO:probinson] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003100 ! Slender long bone [Term] id: HP:0003883 name: Tapered humerus is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003884 name: Triangular humerus is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003885 name: Undermodeled humerus is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003886 name: Wide humerus synonym: "Broad humerus" EXACT [] is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003887 name: Abnormality of the humeral heads is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003888 name: Flattened humeral heads is_a: HP:0003887 ! Abnormality of the humeral heads [Term] id: HP:0003889 name: Abnormality of the deltoid tuberosities is_a: HP:0003063 ! Abnormality of the humerus [Term] id: HP:0003890 name: Prominent deltoid tuberosities is_a: HP:0003889 ! Abnormality of the deltoid tuberosities [Term] id: HP:0003891 name: Abnormality of the humeral epiphysis def: "An anomaly of the `humeral epiphysis` (FMA:32825)." [HPO:probinson] synonym: "Abnormality of the humeral epiphyses" EXACT [] is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003892 name: Absent ossification/Absence of the humeral epiphyses is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0011849 ! Abnormal bone ossification [Term] id: HP:0003893 name: Advanced ossification of the humeral epiphysis def: "Ossification of the `humeral epiphysis` (FMA:32825) at an earlier age than normal." [HPO:probinson] synonym: "Advanced maturation of the humeral epiphyses" RELATED [] is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003894 name: Delayed humeral epiphyseal ossification def: "A delay in the process of formation and maturation of the `humeral epiphysis` (FMA:32825)." [HPO:probinson] synonym: "Delayed maturation/delayed ossification of the humeral epiphyses" EXACT [] is_a: HP:0003840 ! Delayed upper limb epiphyseal ossification is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003895 name: Flattened humeral epiphyses is_a: HP:0003071 ! Flattened epiphyses is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003896 name: Irregular humeral epiphyses is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003897 name: Irregular ossification of the humeral epiphyses is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0011849 ! Abnormal bone ossification [Term] id: HP:0003898 name: Large humeral epiphyses is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003899 name: Round humeral epiphyses is_a: HP:0003843 ! Round epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003900 name: Small humeral epiphyses is_a: HP:0003844 ! Small epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003901 name: Stippled calcification of the humeral epiphyses is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003902 name: Epiphyseal stippling of the humerus def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the `humeral epiphysis` (FMA:32825)." [HPO:probinson] synonym: "Stippled ossification of the humeral epiphyses" EXACT [] is_a: HP:0003897 ! Irregular ossification of the humeral epiphyses is_a: HP:0010655 ! Epiphyseal stippling [Term] id: HP:0003903 name: Broad humeral epiphyses def: "Increased width of the `humeral epiphysis` (FMA:32825)." [HPO:probinson] synonym: "Wide humeral epiphyses" EXACT [] is_a: HP:0003891 ! Abnormality of the humeral epiphysis is_a: HP:0003904 ! Wide epiphyses of the upper limbs [Term] id: HP:0003904 name: Wide epiphyses of the upper limbs synonym: "Broad epiphyses of the upper limbs" EXACT [] is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs is_a: HP:0010580 ! Enlarged epiphyses [Term] id: HP:0003905 name: Abnormality of the humeral epiphyseal plate is_a: HP:0003891 ! Abnormality of the humeral epiphysis [Term] id: HP:0003906 name: Broad humeral epiphyseal plate def: "Increased width of the humeral epiphyseal growth plate." [HPO:probinson] synonym: "Wide humeral epiphyseal plate" EXACT [] is_a: HP:0003846 ! Wide epiphyseal plates of the upper limbs is_a: HP:0003905 ! Abnormality of the humeral epiphyseal plate [Term] id: HP:0003907 name: Abnormality of the humeral metaphyses is_a: HP:0003063 ! Abnormality of the humerus is_a: HP:0009809 ! Abnormality of upper limb metaphysis [Term] id: HP:0003908 name: Corner spurs (humeral metaphyses) is_a: HP:0003922 ! Spurred humeral metaphysis [Term] id: HP:0003909 name: Cortical subperiosteal resorption (humeral metaphyses) is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003910 name: Enlarged humeral metaphyses synonym: "Expanded humeral metaphyses" EXACT [] is_a: HP:0003051 ! Enlarged metaphyses is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003911 name: Flared humeral metaphysis alt_id: HP:0003925 def: "Flaring (increase of width with a splayed appearance) of the `humeral metaphysis` (FMA:32830)." [HPO:probinson] synonym: "Flared humerus" RELATED [] synonym: "Wide/broad humeral metaphysis" EXACT [] is_a: HP:0003849 ! Flared metaphyses of the upper limbs is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003912 name: Frayed humeral metaphyses is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003913 name: Irregular humeral metaphyses is_a: HP:0003850 ! Irregular metaphyses of the upper limbs is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003914 name: Irregular ossification of humeral metaphyses is_a: HP:0003907 ! Abnormality of the humeral metaphyses is_a: HP:0011849 ! Abnormal bone ossification [Term] id: HP:0003915 name: Lytic defects of the humeral metaphsis is_a: HP:0003851 ! Lytic defects in metaphyses of the upper limbs is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003916 name: Normal-density transverse bands (humerus) is_a: HP:0003852 ! Normal density transverse bands in metaphyses of the upper limbs is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003917 name: Pointed humeral metaphysis is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003918 name: Sclerotic humeral metaphysis is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003919 name: Sclerotic humeral metaphysis with longitudinal striations is_a: HP:0003918 ! Sclerotic humeral metaphysis [Term] id: HP:0003920 name: Sloping humeral metaphysis is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003921 name: Laterally sloping humeral metaphysis is_a: HP:0003920 ! Sloping humeral metaphysis [Term] id: HP:0003922 name: Spurred humeral metaphysis is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003923 name: Square humeral metaphysis is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003924 name: Stippled calcification of humeral metaphysis is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003926 name: Abnormality of the humeral diaphysis def: "An anomaly of the `humeral diaphysis` (FMA:13305)." [HPO:probinson] 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 def: "An abnormal irregularity of the cortical surface of the diaphysis (shaft) of the humerus." [HPO:curators] is_a: HP:0003858 ! Cortical diaphyseal irregularity of the upper limbs is_a: HP:0003867 ! Cortical irregularity (humeral) is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003928 name: Cortical thickening of humeral diaphysis is_a: HP:0003859 ! Cortical diaphyseal thickening of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003929 name: Ground glass opacity of humeral diaphysis is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003930 name: Lytic defects of humeral diaphysis synonym: "Humeral diaphyseal lysis" EXACT [] is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003931 name: Periosteal new bone (humeral diaphysis) is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003932 name: Sclerotic foci of humeral diaphysis is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003933 name: Sclerosis of humeral diaphysis is_a: HP:0003860 ! Diaphyseal sclerosis of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003934 name: Slender humeral diaphysis is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003935 name: Wide humeral diaphysis def: "Increased width of the `humeral diaphysis` (FMA:13305)." [HPO:probinson] synonym: "Broad humeral diaphysis" EXACT [] is_a: HP:0003861 ! Broad diaphyses of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003938 name: Synostosis involving the elbow is_a: HP:0009811 ! Abnormality of the elbow is_a: HP:0100238 ! Synostosis involving bones of the upper limbs [Term] id: HP:0003939 name: Humeroulnar synostosis def: "An abnormal osseous union (fusion) between the ulna and the humerus." [HPO:curators] synonym: "Humeral ulnar synostosis" EXACT [] is_a: HP:0003938 ! Synostosis involving the elbow is_a: HP:0100745 ! Abnormality of the humeroulnar joint [Term] id: HP:0003940 name: Osteoarthritis of the elbow is_a: HP:0002758 ! Osteoarthritis is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003941 name: Stippled calcification of the elbow is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003942 name: Synovial chondromatosis of the elbow is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003943 name: Abnormality of the joint spaces of the elbow is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003944 name: Narrow joint spaces of the elbow is_a: HP:0003943 ! Abnormality of the joint spaces of the elbow [Term] id: HP:0003945 name: Irregular articular surfaces of the elbow joints is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003946 name: Abnormality of the epiphyses of the elbow is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003947 name: Delayed elbow epiphyseal ossification def: "A delay in the process of formation and maturation of the `epiphysis` (FMA:24012) of one or more long bones that are part of the elbow." [HPO:probinson] is_a: HP:0003840 ! Delayed upper limb epiphyseal ossification is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow [Term] id: HP:0003948 name: Irregular epiphyses of the elbow is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow [Term] id: HP:0003949 name: Abnormality of the elbow metaphyses is_a: HP:0009809 ! Abnormality of upper limb metaphysis is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003950 name: Flared metaphyses (elbow) is_a: HP:0003849 ! Flared metaphyses of the upper limbs is_a: HP:0003949 ! Abnormality of the elbow metaphyses [Term] id: HP:0003951 name: Irregular metaphyses (elbow) is_a: HP:0003850 ! Irregular metaphyses of the upper limbs is_a: HP:0003949 ! Abnormality of the elbow metaphyses [Term] id: HP:0003952 name: Sclerotic foci of metaphyses of the elbow synonym: "Vertical linear mixed lucent and sclerotic pattern of metaphyses" EXACT [] is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs is_a: HP:0003949 ! Abnormality of the elbow metaphyses [Term] id: HP:0003953 name: Absent ossification/absent forearm bones synonym: "Aplasia of the forearm bones " EXACT [] is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0011849 ! Abnormal bone ossification [Term] id: HP:0003954 name: Angulated forearm bones is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003955 name: Bone-in-a-bone appearance (forearm) is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003956 name: Bowed forearm bones def: "A bending or abnormal curvature affecting either the `radius` (:FMA:23463), the `ulna`(FMA:23466), or both." [HPO:probinson] is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0006488 ! Bowing of the arm [Term] id: HP:0003957 name: Cortical thickening of the forearm bones is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003958 name: Cross-fusion of the forearm bones is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003959 name: Deformed forearm bones is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003960 name: Exostoses of the forearm bones is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0100777 ! Exostoses [Term] id: HP:0003961 name: Fractured forearm bones is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003963 name: Lytic defects of the forearm bones is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003964 name: Osteoporotic forearm bones xref: UMLS:C0223680 "Forearm bone" is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003965 name: Pseudarthrosis of the forearm bones is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003966 name: Sclerotic foci in forearm bones is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003967 name: Sclerotic forearm bones is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003969 name: Slender forearm bones xref: UMLS:C0223680 "Forearm bone" is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003970 name: Undermodelled forearm bones xref: UMLS:C0223680 "Forearm bone" is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003971 name: Broad forearm bones def: "Abnormally wide bone of the `skeleton of forearm` (FMA:71199)." [HPO:probinson] synonym: "Wide forearm bones" EXACT [] is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003973 name: Wide radioulnar joints synonym: "Broad radioulnar joints" EXACT [] is_a: HP:0003037 ! Enlarged joints is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0003974 name: Absent radius alt_id: HP:0002819 alt_id: HP:0005012 def: "Missing radius bone associated with congenital failure of development." [HPO:probinson] synonym: "absence of radius and ulna" EXACT [] synonym: "Absent ossification/absence of radius" EXACT [] synonym: "Aplasia of the radius" EXACT [] synonym: "Ra