format-version: 1.2 date: 08:04:2009 14:24 auto-generated-by: OBO-Edit 2.000-beta52 subsetdef: Secondary consequence "Consequence of a disorder in another organ system." default-namespace: file:/home/peter/projects/hpo/trunk/human-phenotype-ontology.obo [Term] id: HP:0000001 name: All namespace: medical_genetics comment: Root of all terms in the Human Phenotype Ontology. [Term] id: HP:0000002 name: Abnormality of body height namespace: medical_genetics is_a: HP:0001507 ! Growth abnormality created_by: peter creation_date: 2008-02-27T02:20:00Z [Term] id: HP:0000003 name: Multicystic kidney namespace: medical_genetics alt_id: HP:0004715 def: "Multicystic dysplasia of the kidney is characterized by multiple cysts of varying size in the kidney and the absence of a normal pelvocaliceal system. The condition is associated with ureteral or ureteropelvic atresia, and the affected kidney is nonfunctional." [HPO:curators] synonym: "Multicystic dysplastic kidney" EXACT [] synonym: "Multicystic kidneys" EXACT [] synonym: "Multicystic renal dysplasia." EXACT [] is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000004 name: Onset and clinical course namespace: medical_genetics comment: Age of onset of clinical signs and symptoms. is_a: HP:0000001 ! All [Term] id: HP:0000005 name: Inheritance namespace: medical_genetics is_a: HP:0000001 ! All [Term] id: HP:0000006 name: Autosomal dominant inheritance namespace: medical_genetics alt_id: HP:0001415 def: "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] synonym: "Autosomal dominant" EXACT [] synonym: "Autosomal dominant." EXACT [] is_a: HP:0000005 ! Inheritance [Term] id: HP:0000007 name: Autosomal recessive inheritance namespace: medical_genetics alt_id: HP:0001416 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." EXACT [] is_a: HP:0000005 ! Inheritance [Term] id: HP:0000008 name: Abnormality of female internal genitalia namespace: medical_genetics is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0000009 name: Functional abnormality of the bladder namespace: medical_genetics is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0000010 name: Recurrent urinary tract infections namespace: medical_genetics synonym: "Frequent urinary tract infections" EXACT [] is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000011 name: Neurogenic bladder namespace: medical_genetics is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000012 name: Urinary urgency namespace: medical_genetics is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000013 name: Hypoplastic uterus namespace: medical_genetics is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0000014 name: Abnormality of the bladder namespace: medical_genetics is_a: HP:0000079 ! Abnormality of the urinary tract [Term] id: HP:0000015 name: Bladder diverticula namespace: medical_genetics is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0000016 name: Urinary retention namespace: medical_genetics is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000017 name: Nocturia namespace: medical_genetics is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000018 name: Sphincter disturbance namespace: medical_genetics synonym: "Sphincter disturbances" EXACT [] is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000019 name: Hesitancy namespace: medical_genetics is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000020 name: Urinary incontinence namespace: medical_genetics synonym: "Incontinence" EXACT [] is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000021 name: Lower urinary tract dilatation namespace: medical_genetics is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0000022 name: Abnormality of male internal genitalia namespace: medical_genetics 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 [Term] id: HP:0000023 name: Inguinal hernia namespace: medical_genetics synonym: "Inguinal hernias" EXACT [] is_a: HP:0000035 ! Abnormality of the testis is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0000024 name: Prostatitis namespace: medical_genetics is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0000025 name: Functional abnormality of male internal genitalia namespace: medical_genetics is_a: HP:0000080 ! Genital functional abnormality [Term] id: HP:0000026 name: Hypogonadism, male namespace: medical_genetics alt_id: HP:0008649 def: "Lack of function of the males gonads (i.e., testes)." [HPO:curators] synonym: "Male hypogonadism" EXACT [] is_a: HP:0000022 ! Abnormality of male internal genitalia is_a: HP:0000025 ! Functional abnormality of male internal genitalia is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000027 name: Azoospermia namespace: medical_genetics is_a: HP:0000025 ! Functional abnormality of male internal genitalia [Term] id: HP:0000028 name: Cryptorchidism namespace: medical_genetics alt_id: HP:0000797 def: "Absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the testis." [HPO:curators] synonym: "Undescended testes" EXACT [] synonym: "Undescended testis" EXACT [] is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000029 name: Testicular atrophy namespace: medical_genetics is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000030 name: Gonadoblastoma, male namespace: medical_genetics is_a: HP:0000022 ! Abnormality of male internal genitalia is_a: HP:0000150 ! Gonadoblastoma [Term] id: HP:0000031 name: Epididymitis namespace: medical_genetics def: "Inflammation of the epididymis." [HPO:curators] is_a: HP:0009714 ! Abnormality of the epididymis [Term] id: HP:0000032 name: Abnormality of male external genitalia namespace: medical_genetics is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0000033 name: Ambiguous genitalia, male namespace: medical_genetics 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 namespace: medical_genetics is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000035 name: Abnormality of the testis namespace: medical_genetics is_a: HP:0000022 ! Abnormality of male internal genitalia [Term] id: HP:0000036 name: Abnormality of the penis namespace: medical_genetics is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000037 name: Male pseudohermaphroditism namespace: medical_genetics is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000038 name: Small penis namespace: medical_genetics synonym: "Short penis" EXACT [] is_a: HP:0000036 ! Abnormality of the penis is_a: HP:0000050 ! Hypoplastic genitalia [Term] id: HP:0000039 name: Epispadias namespace: medical_genetics is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0000040 name: Enlarged penis namespace: medical_genetics synonym: "Large penis" EXACT [] is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0000041 name: Chordee namespace: medical_genetics is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0000042 name: Absent external genitalia namespace: medical_genetics is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000044 name: Hypogonadotrophic hypogonadism namespace: medical_genetics def: "Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH)." [HPO:curators] synonym: "Hypogonadism, hypogonadotropic" EXACT [] is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000045 name: Morphological abnormality of the scrotum namespace: medical_genetics is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0000046 name: Scrotal hypoplasia namespace: medical_genetics synonym: "Hypoplastic scrotum" EXACT [] is_a: HP:0000045 ! Morphological abnormality of the scrotum is_a: HP:0000050 ! Hypoplastic genitalia [Term] id: HP:0000047 name: Hypospadias namespace: medical_genetics is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0000048 name: Bifid scrotum namespace: medical_genetics is_a: HP:0000045 ! Morphological abnormality of the scrotum [Term] id: HP:0000049 name: Shawl scrotum namespace: medical_genetics is_a: HP:0000045 ! Morphological abnormality of the scrotum [Term] id: HP:0000050 name: Hypoplastic genitalia namespace: medical_genetics is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0003241 ! Genital hypoplasia [Term] id: HP:0000051 name: Perineal hypospadias namespace: medical_genetics is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000052 name: Urethral atresia, male namespace: medical_genetics is_a: HP:0000036 ! Abnormality of the penis is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000053 name: Macroorchidism namespace: medical_genetics is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0000054 name: Micropenis namespace: medical_genetics synonym: "Microphallus" EXACT [] is_a: HP:0000038 ! Small penis [Term] id: HP:0000055 name: Abnormality of female external genitalia namespace: medical_genetics is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0000056 name: Abnormality of the clitoris namespace: medical_genetics is_a: HP:0000055 ! Abnormality of female external genitalia [Term] id: HP:0000057 name: Clitoromegaly namespace: medical_genetics synonym: "Clitoral enlargement" EXACT [] synonym: "Enlarged clitoris" EXACT [] synonym: "Prominent clitoris" EXACT [] is_a: HP:0000056 ! Abnormality of the clitoris [Term] id: HP:0000058 name: Abnormality of the labia namespace: medical_genetics is_a: HP:0000055 ! Abnormality of female external genitalia [Term] id: HP:0000059 name: Hypoplastic labia majora namespace: medical_genetics synonym: "Hypoplasia of labia majora" EXACT [] synonym: "Small labia majora" EXACT [] is_a: HP:0000066 ! Labial hypoplasia [Term] id: HP:0000060 name: Hypoplastic clitoris namespace: medical_genetics synonym: "Clitoral hypoplasia" EXACT [] synonym: "Small clitoris" EXACT [] is_a: HP:0000056 ! Abnormality of the clitoris is_a: HP:0003241 ! Genital hypoplasia [Term] id: HP:0000061 name: Ambiguous genitalia, female namespace: medical_genetics is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0000062 name: Ambiguous genitalia namespace: medical_genetics is_a: HP:0000078 ! Abnormality of the genital tract [Term] id: HP:0000063 name: Fused labia minora namespace: medical_genetics is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0000064 name: Hypoplastic labia minora namespace: medical_genetics is_a: HP:0000066 ! Labial hypoplasia [Term] id: HP:0000065 name: Labial hypertrophy namespace: medical_genetics is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0000066 name: Labial hypoplasia namespace: medical_genetics synonym: "Hypoplastic labia" EXACT [] is_a: HP:0000058 ! Abnormality of the labia is_a: HP:0003241 ! Genital hypoplasia [Term] id: HP:0000067 name: urethral atresia, female namespace: medical_genetics is_a: HP:0000055 ! Abnormality of female external genitalia is_a: HP:0000068 ! Urethral atresia [Term] id: HP:0000068 name: Urethral atresia namespace: medical_genetics is_a: HP:0000795 ! Abnormality of the urethra is_a: HP:0000809 ! Urinary tract atresia [Term] id: HP:0000069 name: Abnormality of the ureters namespace: medical_genetics alt_id: HP:0006001 synonym: "Ureteral anomalies" EXACT [] is_a: HP:0000079 ! Abnormality of the urinary tract [Term] id: HP:0000070 name: Ureterocele namespace: medical_genetics is_a: HP:0000069 ! Abnormality of the ureters [Term] id: HP:0000071 name: Ureteral stenosis namespace: medical_genetics is_a: HP:0000069 ! Abnormality of the ureters [Term] id: HP:0000072 name: Hydroureter namespace: medical_genetics alt_id: HP:0006003 def: "The distention of the ureter with urine." [HPO:curators] synonym: "Megaureter" EXACT [] synonym: "Ureteral dilatation" EXACT [] synonym: "Uroureter" RELATED [] is_a: HP:0000069 ! Abnormality of the ureters [Term] id: HP:0000073 name: Ureteral duplication namespace: medical_genetics synonym: "Double ureter" EXACT [] is_a: HP:0000069 ! Abnormality of the ureters [Term] id: HP:0000074 name: Ureteropelvic junction obstruction namespace: medical_genetics synonym: "Pelviureteric junction obstruction" EXACT [] is_a: HP:0000069 ! Abnormality of the ureters [Term] id: HP:0000075 name: Renal duplication namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys created_by: peter creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000076 name: Vesicoureteral reflux namespace: medical_genetics alt_id: HP:0006002 alt_id: HP:0008667 def: "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] synonym: "Ureteral reflux" EXACT [] synonym: "Ureteric reflux" EXACT [] synonym: "Vesicoureteric reflux" EXACT [] is_a: HP:0000009 ! Functional abnormality of the bladder is_a: HP:0000069 ! Abnormality of the ureters [Term] id: HP:0000077 name: Abnormality of the kidneys namespace: medical_genetics synonym: "Renal anomalies" EXACT [] synonym: "Renal anomaly" EXACT [] is_a: HP:0000079 ! Abnormality of the urinary tract [Term] id: HP:0000078 name: Abnormality of the genital tract namespace: medical_genetics synonym: "Genital abnormalities" EXACT [] synonym: "Genital abnormality" EXACT [] synonym: "Genital anomalies" EXACT [] synonym: "Genital defects" EXACT [] is_a: HP:0000119 ! Genitourinary abnormality [Term] id: HP:0000079 name: Abnormality of the urinary tract namespace: medical_genetics synonym: "Urinary tract abnormalities" EXACT [] synonym: "Urinary tract abnormality" EXACT [] synonym: "Urinary tract anomalies" EXACT [] is_a: HP:0000119 ! Genitourinary abnormality [Term] id: HP:0000080 name: Genital functional abnormality namespace: medical_genetics is_a: HP:0000078 ! Abnormality of the genital tract [Term] id: HP:0000081 name: Duplicated collecting system namespace: medical_genetics synonym: "Double collecting system" EXACT [] synonym: "Double urinary collecting systems on intravenous pyelography" EXACT [] synonym: "Duplicated renal collecting system" EXACT [] is_a: HP:0000073 ! Ureteral duplication is_a: HP:0000075 ! Renal duplication created_by: peter creation_date: 2008-02-25T12:45:00Z [Term] id: HP:0000082 name: Renal functional abnormality namespace: medical_genetics alt_id: HP:0005566 synonym: "Renal dysfunction" EXACT [] is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000083 name: Renal failure namespace: medical_genetics synonym: "Renal insufficiency" EXACT [] is_a: HP:0000082 ! Renal functional abnormality [Term] id: HP:0000084 name: Renal failure in adulthood namespace: medical_genetics is_a: HP:0000083 ! Renal failure [Term] id: HP:0000085 name: Horseshoe kidney namespace: medical_genetics synonym: "Horseshoe kidneys" EXACT [] is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000086 name: Ectopic kidney namespace: medical_genetics synonym: "Ectopic kidneys" EXACT [] synonym: "Renal ectopia" EXACT [] is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000087 name: Impaired renal function namespace: medical_genetics synonym: "Decreased renal function" EXACT [] synonym: "Reduced renal function" EXACT [] is_a: HP:0000082 ! Renal functional abnormality [Term] id: HP:0000088 name: Cystic kidney namespace: medical_genetics synonym: "Cystic kidneys" EXACT [] synonym: "Cystic kidneys by renal ultrasonography" EXACT [] is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000089 name: Renal hypoplasia namespace: medical_genetics alt_id: HP:0001968 synonym: "Hypoplastic kidney" EXACT [] synonym: "Hypoplastic kidneys" EXACT [] synonym: "Small kidneys" EXACT [] is_a: HP:0008678 ! Renal hypoplasia/aplasia [Term] id: HP:0000090 name: Nephronophthisis namespace: medical_genetics comment: Progressive symmetrical destruction of the kidneys involving both the tubules and glomeruli. is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000091 name: Abnormality of the renal tubules namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000092 name: Tubular atrophy namespace: medical_genetics synonym: "Renal biopsy shows focal tubular atrophy" EXACT [] synonym: "Renal biopsy shows tubular atrophy" EXACT [] is_a: HP:0000091 ! Abnormality of the renal tubules [Term] id: HP:0000093 name: Proteinuria namespace: medical_genetics is_a: HP:0000091 ! Abnormality of the renal tubules is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0000094 name: Urinary tract infections namespace: medical_genetics synonym: "Urinary infection" EXACT [] synonym: "Urinary tract infection" EXACT [] is_a: HP:0000082 ! Renal functional abnormality [Term] id: HP:0000095 name: Morphological abnormalities of the glomeruli namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000096 name: Glomerulosclerosis namespace: medical_genetics is_a: HP:0000095 ! Morphological abnormalities of the glomeruli [Term] id: HP:0000097 name: Focal segmental glomerulosclerosis namespace: medical_genetics synonym: "Focal and segmental glomerular sclerosis" EXACT [] synonym: "Focal and segmental glomerulosclerosis" EXACT [] is_a: HP:0000096 ! Glomerulosclerosis [Term] id: HP:0000098 name: Increased body height namespace: medical_genetics is_a: HP:0000002 ! Abnormality of body height created_by: peter creation_date: 2008-02-27T02:21:00Z [Term] id: HP:0000099 name: Glomerulonephritis namespace: medical_genetics synonym: "Glomrulonephritis" EXACT [] is_a: HP:0000095 ! Morphological abnormalities of the glomeruli [Term] id: HP:0000100 name: Nephrotic syndrome namespace: medical_genetics synonym: "Nephotic syndrome" EXACT [] is_a: HP:0000082 ! Renal functional abnormality [Term] id: HP:0000101 name: Chronic renal failure namespace: medical_genetics is_a: HP:0000083 ! Renal failure [Term] id: HP:0000103 name: Polyuria namespace: medical_genetics is_a: HP:0000082 ! Renal functional abnormality is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0000104 name: Renal agenesis namespace: medical_genetics alt_id: HP:0000785 synonym: "Absent kidney" EXACT [] is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000105 name: Enlarged kidneys namespace: medical_genetics synonym: "Large kidneys" EXACT [] synonym: "Renal enlargement" EXACT [] is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000106 name: Progressive renal insufficiency namespace: medical_genetics synonym: "Progressive renal failure" EXACT [] is_a: HP:0000083 ! Renal failure [Term] id: HP:0000107 name: Renal cysts namespace: medical_genetics alt_id: HP:0000109 is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000108 name: Corticomedullary cysts namespace: medical_genetics synonym: "Corticomedullary renal cysts" EXACT [] synonym: "Renal corticomedullary cystic disease" EXACT [] is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000110 name: Renal dysplasia namespace: medical_genetics alt_id: HP:0000116 synonym: "Dysplastic kidneys" EXACT [] is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000111 name: Renal juxtaglomerular cell hypertrophy/hyperplasia namespace: medical_genetics is_a: HP:0000095 ! Morphological abnormalities of the glomeruli [Term] id: HP:0000112 name: Nephropathy namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000113 name: Polycystic kidney namespace: medical_genetics synonym: "Polycystic kidney disease" EXACT [] synonym: "Polycystic kidneys" EXACT [] is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000114 name: Proximal renal tubule defect namespace: medical_genetics synonym: "Proximal tubular defect" EXACT [] synonym: "Proximal tubulopathy" EXACT [] is_a: HP:0000091 ! Abnormality of the renal tubules [Term] id: HP:0000117 name: Decreased renal tubular phosphate reabsorption namespace: medical_genetics synonym: "Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate" EXACT [] synonym: "Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate (TMP/GFR)" EXACT [] synonym: "Renal phosphate wasting" EXACT [] synonym: "Tubular phosphate reabsorption low" EXACT [] is_a: HP:0000127 ! Renal salt wasting [Term] id: HP:0000118 name: Organ abnormality namespace: medical_genetics is_a: HP:0000001 ! All [Term] id: HP:0000119 name: Genitourinary abnormality namespace: medical_genetics alt_id: HP:0008658 alt_id: HP:0008704 synonym: "Genitourinary tract anomalies" EXACT [] synonym: "Urogenital abnormalities" EXACT [] synonym: "Urogenital anomalies" EXACT [] is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0000120 name: Reduced creatinine clearance namespace: medical_genetics synonym: "Impaired renal creatinine clearance" EXACT [] is_a: HP:0000082 ! Renal functional abnormality [Term] id: HP:0000121 name: Nephrocalcinosis namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000122 name: Unilateral renal agenesis namespace: medical_genetics synonym: "Unilateral kidney agenesis" EXACT [] is_a: HP:0000104 ! Renal agenesis [Term] id: HP:0000123 name: Nephritis namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000124 name: Renal tubular dysfunction namespace: medical_genetics synonym: "Renal tubular defect" EXACT [] synonym: "Renal tubular disease" EXACT [] is_a: HP:0000082 ! Renal functional abnormality [Term] id: HP:0000125 name: Pelvic kidney namespace: medical_genetics is_a: HP:0000086 ! Ectopic kidney [Term] id: HP:0000126 name: Hydronephrosis namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000127 name: Renal salt wasting namespace: medical_genetics synonym: "Renal salt-wasting" EXACT [] synonym: "Salt wasting" EXACT [] synonym: "Salt-wasting" EXACT [] is_a: HP:0000082 ! Renal functional abnormality is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0000128 name: Renal potassium wasting namespace: medical_genetics is_a: HP:0000127 ! Renal salt wasting [Term] id: HP:0000129 name: Interstitial fibrosis namespace: medical_genetics synonym: "Renal interstitial fibrosis" EXACT [] is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0000130 name: Abnormality of the uterus namespace: medical_genetics alt_id: HP:0008630 alt_id: HP:0008692 synonym: "Uterine abnormalities" EXACT [] synonym: "Uterine malformations" EXACT [] is_a: HP:0000008 ! Abnormality of female internal genitalia [Term] id: HP:0000131 name: Uterine leiomyomata namespace: medical_genetics is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0000132 name: Menorrhagia namespace: medical_genetics is_a: HP:0000140 ! Menstrual abnormalities [Term] id: HP:0000133 name: Gonadal dysgenesis namespace: medical_genetics is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0000134 name: Hypogonadism, female namespace: medical_genetics def: "Lack of function of the female gonads (i.e. ovaries)." [HPO:curators] is_a: HP:0000135 ! Hypogonadism is_a: HP:0000137 ! Abnormality of the ovaries [Term] id: HP:0000135 name: Hypogonadism namespace: medical_genetics def: "Reduced function of the gonads (testes in males or ovaries in females)." [HPO:curators] comment: Lack of function of the gonads (ovaries or testes). is_a: HP:0000080 ! Genital functional abnormality is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000136 name: Bifid uterus namespace: medical_genetics def: "A uterus that is divided into two lateral horns as a result of imperfect fusion of the paramesonephric ducts." [HPO:curators] is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0000137 name: Abnormality of the ovaries namespace: medical_genetics is_a: HP:0000008 ! Abnormality of female internal genitalia [Term] id: HP:0000138 name: Ovarian cysts namespace: medical_genetics is_a: HP:0000146 ! Cystic abnormalities of the ovaries [Term] id: HP:0000139 name: Uterine prolapse namespace: medical_genetics is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0000140 name: Menstrual abnormalities namespace: medical_genetics is_a: HP:0000008 ! Abnormality of female internal genitalia is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000141 name: Amenorrhea namespace: medical_genetics is_a: HP:0000140 ! Menstrual abnormalities [Term] id: HP:0000142 name: Abnormalities of the vagina namespace: medical_genetics alt_id: HP:0008650 synonym: "Vaginal malformation" EXACT [] is_a: HP:0000008 ! Abnormality of female internal genitalia [Term] id: HP:0000143 name: Rectovaginal fistula namespace: medical_genetics is_a: HP:0002034 ! Abnormality of the rectum is_a: HP:0004320 ! Vaginal fistula [Term] id: HP:0000144 name: Decreased fertility namespace: medical_genetics is_a: HP:0000078 ! Abnormality of the genital tract [Term] id: HP:0000145 name: Transverse vaginal septum namespace: medical_genetics synonym: "Transverse vaginal membrane" EXACT [] is_a: HP:0001153 ! Septate vagina [Term] id: HP:0000146 name: Cystic abnormalities of the ovaries namespace: medical_genetics synonym: "Cystic ovaries" EXACT [] is_a: HP:0000137 ! Abnormality of the ovaries [Term] id: HP:0000147 name: polycystic ovaries namespace: medical_genetics synonym: "Polycystic ovary" EXACT [] synonym: "Polycystic ovary disease" EXACT [] is_a: HP:0000138 ! Ovarian cysts [Term] id: HP:0000148 name: Vaginal atresia namespace: medical_genetics is_a: HP:0000142 ! Abnormalities of the vagina is_a: HP:0001827 ! Genital atresia [Term] id: HP:0000149 name: Gonadoblastoma, female namespace: medical_genetics is_a: HP:0000137 ! Abnormality of the ovaries is_a: HP:0000150 ! Gonadoblastoma [Term] id: HP:0000150 name: Gonadoblastoma namespace: medical_genetics is_a: HP:0000812 ! Abnormal internal genitalia is_a: HP:0007379 ! Genitourinary tract tumors [Term] id: HP:0000151 name: Absent uterus namespace: medical_genetics is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0000152 name: Head and neck abnormality namespace: medical_genetics is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0000153 name: Abnormality of the mouth namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000154 name: Wide mouth namespace: medical_genetics def: "Abnormally wide mouth." [HPO:curators] synonym: "Broad mouth" EXACT [] is_a: HP:0000181 ! Macrostomia [Term] id: HP:0000155 name: Oral ulcers namespace: medical_genetics is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000156 name: High-arched palate namespace: medical_genetics synonym: "High arched palate" EXACT [] synonym: "High narrow palate" EXACT [] synonym: "High, arched palate" EXACT [] is_a: HP:0000189 ! Narrow palate is_a: HP:0000218 ! High palate [Term] id: HP:0000157 name: Abnormality of the tongue namespace: medical_genetics synonym: "Tongue abnormality" RELATED [] is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000158 name: Macroglossia namespace: medical_genetics alt_id: HP:0000203 def: "Hypertrophy (enlargment) of the tongue." [HPO:curators] synonym: "Protruding tongue" EXACT [] synonym: "Tongue hypertrophy" EXACT [] is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0003712 ! Muscle hypertrophy [Term] id: HP:0000159 name: Lip abnormality namespace: medical_genetics is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000160 name: Microstomia namespace: medical_genetics def: "An abnormally small mouth." [HPO:curators] synonym: "Small mouth" EXACT [] is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000161 name: Median cleft lip namespace: medical_genetics synonym: "Midline cleft lip" EXACT [] is_a: HP:0000204 ! Cleft lip [Term] id: HP:0000162 name: Glossoptosis namespace: medical_genetics comment: Downward displacement/retraction of the tongue. is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000163 name: Abnormality of the oral cavity namespace: medical_genetics def: "Abnormality of the opening or hollow part of the mouth." [HPO:curators] is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000164 name: Dental abnormality namespace: medical_genetics alt_id: HP:0006348 synonym: "Abnormal dentition" EXACT [] synonym: "Abnormal teeth" EXACT [] synonym: "Dental abnormalities" EXACT [] synonym: "Dental anomalies" EXACT [] is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000165 name: Periodontitis namespace: medical_genetics is_a: HP:0000168 ! Gingival abnormality is_a: HP:0000704 ! Periodontal disease [Term] id: HP:0000166 name: Severe, early-onset periodontitis namespace: medical_genetics is_a: HP:0000165 ! Periodontitis [Term] id: HP:0000167 name: Oral bleeding namespace: medical_genetics is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000168 name: Gingival abnormality namespace: medical_genetics is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000169 name: Gingival fibromatosis namespace: medical_genetics synonym: "Gingival fibroma" EXACT [] is_a: HP:0000168 ! Gingival abnormality [Term] id: HP:0000170 name: Full lips namespace: medical_genetics synonym: "Thick lips" EXACT [] is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000171 name: Microglossia namespace: medical_genetics is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000172 name: Abnormality of the uvula namespace: medical_genetics def: "Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate." [HPO:curators] is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000174 name: Abnormality of palate namespace: medical_genetics is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000175 name: Cleft palate namespace: medical_genetics is_a: HP:0000202 ! Cleft lip/palate [Term] id: HP:0000176 name: Submucous cleft palate namespace: medical_genetics is_a: HP:0000175 ! Cleft palate [Term] id: HP:0000177 name: Abnormality of upper lip namespace: medical_genetics is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000178 name: Abnormality of lower lip namespace: medical_genetics is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000179 name: Prominent lower lip namespace: medical_genetics is_a: HP:0000178 ! Abnormality of lower lip is_a: HP:0000184 ! Prominent lips [Term] id: HP:0000180 name: Lobulated tongue namespace: medical_genetics synonym: "Lobulate tongue" EXACT [] is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000181 name: Macrostomia namespace: medical_genetics alt_id: HP:0002052 def: "Abnormal largeness of the mouth." [HPO:curators] synonym: "Large mouth" EXACT [] is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000182 name: Movement abnormalities of the tongue namespace: medical_genetics is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000183 name: Difficulty in tongue movements namespace: medical_genetics is_a: HP:0000182 ! Movement abnormalities of the tongue [Term] id: HP:0000184 name: Prominent lips namespace: medical_genetics is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000185 name: Cleft soft palate namespace: medical_genetics is_a: HP:0000175 ! Cleft palate [Term] id: HP:0000186 name: 'Carp-like' mouth namespace: medical_genetics synonym: "Carp-like mouth" EXACT [] synonym: "Carp-shaped mouth" EXACT [] synonym: "Large, carp-shaped mouth" EXACT [] synonym: "Wide, carp-shaped mouth" EXACT [] is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000187 name: Broad alveolar ridges namespace: medical_genetics synonym: "Broad alveolar margins" EXACT [] synonym: "Widened alveolar ridges" EXACT [] is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000188 name: Short upper lip namespace: medical_genetics is_a: HP:0000177 ! Abnormality of upper lip [Term] id: HP:0000189 name: Narrow palate namespace: medical_genetics def: "An abnormally narrow palate." [HPO:curators] is_a: HP:0000174 ! Abnormality of palate [Term] id: HP:0000190 name: Frenular abnormality namespace: medical_genetics is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000191 name: Oral frenula namespace: medical_genetics is_a: HP:0000190 ! Frenular abnormality [Term] id: HP:0000193 name: Bifid uvula namespace: medical_genetics alt_id: HP:0000173 def: "A split or cleft uvula." [HPO:curators] synonym: "Cleft uvula" EXACT [] synonym: "Uvula bifida" EXACT [] is_a: HP:0000172 ! Abnormality of the uvula [Term] id: HP:0000194 name: Open mouth namespace: medical_genetics is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000195 name: Gingival hypertrophy namespace: medical_genetics synonym: "Gum hypertrophy" EXACT [] is_a: HP:0000168 ! Gingival abnormality [Term] id: HP:0000196 name: Lower lip pits namespace: medical_genetics is_a: HP:0000178 ! Abnormality of lower lip [Term] id: HP:0000197 name: Abnormality of parotid gland namespace: medical_genetics is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000198 name: Absence of Stensen duct namespace: medical_genetics synonym: "Absent stensen duct" EXACT [] is_a: HP:0000197 ! Abnormality of parotid gland [Term] id: HP:0000199 name: Tongue nodules namespace: medical_genetics is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000200 name: Short lingual frenulum namespace: medical_genetics synonym: "Short tongue frenulum" EXACT [] is_a: HP:0000190 ! Frenular abnormality [Term] id: HP:0000201 name: Pierre-Robin sequence namespace: medical_genetics synonym: "Pierre Robin sequence" EXACT [] synonym: "Robin sequence" EXACT [] is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000202 name: Cleft lip/palate namespace: medical_genetics synonym: "Cleft lip and cleft palate" EXACT [] synonym: "Cleft lip and palate" EXACT [] synonym: "Cleft lip and/or palate" EXACT [] synonym: "Cleft lip, cleft palate" EXACT [] is_a: HP:0000174 ! Abnormality of palate [Term] id: HP:0000204 name: Cleft lip namespace: medical_genetics is_a: HP:0000159 ! Lip abnormality is_a: HP:0000202 ! Cleft lip/palate [Term] id: HP:0000205 name: Pursed lips namespace: medical_genetics is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000206 name: Glossitis namespace: medical_genetics is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000207 name: Triangular mouth namespace: medical_genetics synonym: "Triangular shaped mouth" EXACT [] is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000208 name: Submucous cleft namespace: medical_genetics synonym: "Submucous clefting" EXACT [] is_a: HP:0000202 ! Cleft lip/palate [Term] id: HP:0000209 name: Abnormality of the jaws namespace: medical_genetics is_a: HP:0000163 ! Abnormality of the oral cavity is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0000210 name: Micrognathia namespace: medical_genetics alt_id: HP:0002005 synonym: "Small jaw" EXACT [] is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible [Term] id: HP:0000211 name: Trismus namespace: medical_genetics is_a: HP:0000209 ! Abnormality of the jaws [Term] id: HP:0000212 name: Gingival hyperplasia namespace: medical_genetics is_a: HP:0000168 ! Gingival abnormality [Term] id: HP:0000213 name: Thin lips namespace: medical_genetics is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000214 name: Lip telangiectases namespace: medical_genetics is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000215 name: Prominent upper lip namespace: medical_genetics is_a: HP:0000177 ! Abnormality of upper lip is_a: HP:0000184 ! Prominent lips [Term] id: HP:0000216 name: Broad secondary alveolar ridge namespace: medical_genetics synonym: "Secondary alveolar ridges" EXACT [] is_a: HP:0000187 ! Broad alveolar ridges [Term] id: HP:0000217 name: Xerostomia namespace: medical_genetics alt_id: HP:0002709 def: "Dryness of the mouth due to salivary gland dysfunction." [HPO:curators] synonym: "Dry mouth" EXACT [] is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0000218 name: High palate namespace: medical_genetics synonym: "Palate high-arched" EXACT [] is_a: HP:0000174 ! Abnormality of palate [Term] id: HP:0000219 name: Thin upper lip namespace: medical_genetics is_a: HP:0000177 ! Abnormality of upper lip is_a: HP:0000213 ! Thin lips [Term] id: HP:0000220 name: Velopharyngeal insufficiency namespace: medical_genetics synonym: "Velopharyngeal incompetence" EXACT [] is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000221 name: Scrotal tongue namespace: medical_genetics is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000222 name: Gingival hyperkeratosis namespace: medical_genetics is_a: HP:0000168 ! Gingival abnormality [Term] id: HP:0000223 name: Abnormality of taste sensation namespace: medical_genetics is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000224 name: Decreased taste sensation namespace: medical_genetics synonym: "Decreased taste" EXACT [] is_a: HP:0000223 ! Abnormality of taste sensation [Term] id: HP:0000225 name: Gingival bleeding namespace: medical_genetics is_a: HP:0000167 ! Oral bleeding is_a: HP:0000168 ! Gingival abnormality [Term] id: HP:0000226 name: Small tongue namespace: medical_genetics is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0000227 name: Tongue telangiectases namespace: medical_genetics is_a: HP:0000157 ! Abnormality of the tongue is_a: HP:0000228 ! Teleangiectases in oral cavity [Term] id: HP:0000228 name: Teleangiectases in oral cavity namespace: medical_genetics is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0000229 name: Palate teleangiectases namespace: medical_genetics is_a: HP:0000174 ! Abnormality of palate is_a: HP:0000228 ! Teleangiectases in oral cavity [Term] id: HP:0000230 name: Gingivitis namespace: medical_genetics is_a: HP:0000168 ! Gingival abnormality [Term] id: HP:0000231 name: Thin vermillion border of upper lip namespace: medical_genetics synonym: "Thin vermilion border of upper lip" EXACT [] is_a: HP:0000219 ! Thin upper lip is_a: HP:0000233 ! Thin vermillion border [Term] id: HP:0000232 name: Everted lower lip namespace: medical_genetics is_a: HP:0000178 ! Abnormality of lower lip [Term] id: HP:0000233 name: Thin vermillion border namespace: medical_genetics synonym: "Thin vermillion" EXACT [] is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0000234 name: Head abnormality namespace: medical_genetics is_a: HP:0000152 ! Head and neck abnormality [Term] id: HP:0000235 name: Abnormality of the fontanelles and cranial sutures namespace: medical_genetics is_a: HP:0002683 ! Abnormality of the calvaria [Term] id: HP:0000236 name: Abnormality of the anterior fontanelle namespace: medical_genetics is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0000237 name: Small anterior fontanelle namespace: medical_genetics synonym: "Small anterior fontanel" EXACT [] is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0000238 name: Hydrocephalus namespace: medical_genetics synonym: "Hydrocephaly" EXACT [] is_a: HP:0000234 ! Head abnormality is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0000239 name: Large fontanelles namespace: medical_genetics def: "In newborns, the two frontal bones, two parietal bones, and one occipital bone are joined by fibrous sutures, which form a small posterior fontanelle, and a larger, diamond-shaped anterior fontanelle. These regions allow for the skull to pass the birth canal and for later growth. The fontanelles gradually ossify, whereby the posterior fontanelle usually closes by eight weeks and the anterior fontanelle by the 9th to 16th month of age. Large fontanelles are diagnosed if the fontanelles are larger than age-dependent norms." [HPO:curators] synonym: "Enlarged fontanelles" EXACT [] synonym: "Large fontanel" EXACT [] synonym: "Large fontanelle" EXACT [] synonym: "Large fontanels" EXACT [] synonym: "Wide fontanelles" EXACT [] is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0000240 name: Abnormality of skull size namespace: medical_genetics is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0000241 name: Deceleration of head growth namespace: medical_genetics synonym: "Postnatal deceleration of head circumference" EXACT [] is_a: HP:0000252 ! Microcephaly [Term] id: HP:0000242 name: Parietal bossing namespace: medical_genetics def: "Parietal bossing is an unusual prominence in the parietal region." [HPO:curators] synonym: "Biparietal bossing" EXACT [] synonym: "Bossing of parietal bone" EXACT [] is_a: HP:0002696 ! Parietal abnormalities [Term] id: HP:0000243 name: Trigonocephaly namespace: medical_genetics is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000244 name: Brachyturricephaly namespace: medical_genetics synonym: "Turribrachycephaly" EXACT [] is_a: HP:0000248 ! Brachycephaly is_a: HP:0000262 ! Turricephaly [Term] id: HP:0000245 name: Abnormality of the sinuses namespace: medical_genetics is_a: HP:0000234 ! Head abnormality is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0000246 name: Sinusitis namespace: medical_genetics is_a: HP:0000245 ! Abnormality of the sinuses [Term] id: HP:0000247 name: Posterior flattening of the skull namespace: medical_genetics is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000248 name: Brachycephaly namespace: medical_genetics def: "Brachycephaly refers to a short, wide head, which is often caused by premature closure of both coronal sutures." [HPO:curators] is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000249 name: Flat occiput namespace: medical_genetics is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000250 name: Dense calvaria namespace: medical_genetics is_a: HP:0002683 ! Abnormality of the calvaria is_a: HP:0004330 ! Increased skull ossification [Term] id: HP:0000252 name: Microcephaly namespace: medical_genetics alt_id: HP:0005485 alt_id: HP:0005489 alt_id: HP:0005497 def: "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] synonym: "Decreased head circumference" EXACT [] synonym: "Reduced head circumference" EXACT [] synonym: "Small head circumference" EXACT [] is_a: HP:0000240 ! Abnormality of skull size is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0000253 name: Microcephaly, progressive namespace: medical_genetics def: "Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and gender-dependent norms." [HPO:curators] synonym: "Microcephaly, postnatal, progressive" EXACT [] is_a: HP:0000252 ! Microcephaly [Term] id: HP:0000254 name: Frontal bossing namespace: medical_genetics synonym: "Broad, prominent forehead" EXACT [] synonym: "Forehead prominent" EXACT [] synonym: "High, prominent forehead" EXACT [] synonym: "Prominent forehead" EXACT [] is_a: HP:0002007 ! Frontal prominence is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000255 name: Acute sinusitis namespace: medical_genetics is_a: HP:0000246 ! Sinusitis [Term] id: HP:0000256 name: Macrocephaly namespace: medical_genetics alt_id: HP:0005491 alt_id: HP:0005496 synonym: "Increased head circumference" EXACT [] synonym: "Large head" EXACT [] synonym: "Large head circumference" EXACT [] synonym: "Macrocrania" EXACT [] is_a: HP:0000240 ! Abnormality of skull size [Term] id: HP:0000258 name: Scaphocephaly namespace: medical_genetics def: "An abnormality of head shape characterized by a long, narrow head shape, often due to premature closure of the sagittal suture." [HPO:curators] is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000259 name: Microcephaly, acquired namespace: medical_genetics is_a: HP:0000252 ! Microcephaly [Term] id: HP:0000260 name: Wide anterior fontanel namespace: medical_genetics def: "Enlargement of the anterior fontanelle with respect to age-dependent norms." [HPO:curators] synonym: "Large anterior fontanel" EXACT [] synonym: "Large anterior fontanelle" EXACT [] synonym: "Large open anterior fontanel" EXACT [] synonym: "Large open anterior fontanelle" EXACT [] synonym: "Wide anterior fontanelle" EXACT [] synonym: "Wide open anterior fontanelle" EXACT [] is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0000262 name: Turricephaly namespace: medical_genetics def: "Turricephaly is derived from the Latin word turris, meaning tall, and refers to a round, tall (tower-like) skull." [HPO:curators] is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000263 name: Oyxcephaly namespace: medical_genetics def: "Oxycephaly (from Greek oxus, sharp, and kephalos, head) refers to a conical or pointed shape of the skull." [HPO:curators] synonym: "Acrocephaly" RELATED [] is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000264 name: Abnormality of the mastoid namespace: medical_genetics is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0000265 name: Mastoiditis namespace: medical_genetics is_a: HP:0000264 ! Abnormality of the mastoid [Term] id: HP:0000267 name: Cranial asymmetry namespace: medical_genetics is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000268 name: Dolichocephaly namespace: medical_genetics synonym: "Large dolichocephalic skull" EXACT [] is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000269 name: Prominent occiput namespace: medical_genetics is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0000270 name: Delayed closure of fontanel namespace: medical_genetics 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 [] is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0000271 name: Abnormality of the face namespace: medical_genetics is_a: HP:0000234 ! Head abnormality [Term] id: HP:0000272 name: Malar hypoplasia namespace: medical_genetics alt_id: HP:0000312 synonym: "Flat face" EXACT [] synonym: "Flat facial profile" EXACT [] synonym: "Flat facies" EXACT [] synonym: "Mid-face hypoplasia" EXACT [] synonym: "Midface hypoplasia" EXACT [] is_a: HP:0000309 ! Abnormality of the midface is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000273 name: Facial grimacing namespace: medical_genetics is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0000274 name: Small face namespace: medical_genetics synonym: "Small facies" EXACT [] is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000275 name: Narrow face namespace: medical_genetics synonym: "Narrow facies" EXACT [] is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000276 name: Long face namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000277 name: Abnormality of the mandible namespace: medical_genetics is_a: HP:0000209 ! Abnormality of the jaws [Term] id: HP:0000278 name: Retrognathia namespace: medical_genetics alt_id: HP:0002954 synonym: "Receding mandible" EXACT [] is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0000280 name: Coarse facial features namespace: medical_genetics synonym: "Coarse face" EXACT [] synonym: "Coarse facies" EXACT [] is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000281 name: Mildly coarse facies namespace: medical_genetics synonym: "Mild coarse facies" EXACT [] synonym: "Mildly coarse facial features" EXACT [] synonym: "Mildly coarsened facial features" EXACT [] is_a: HP:0000280 ! Coarse facial features [Term] id: HP:0000282 name: Facial edema namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000283 name: Broad face namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000284 name: Abnormality of the ocular region namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000286 name: Epicanthal folds namespace: medical_genetics synonym: "Epicanthal fold" EXACT [] synonym: "Epicanthic folds" EXACT [] synonym: "Epicanthus" EXACT [] is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000287 name: Normal or increased facial adipose tissue namespace: medical_genetics is_a: HP:0000291 ! Abnormality of facial adipose tissue [Term] id: HP:0000288 name: Abnormality of the philtrum namespace: medical_genetics synonym: "Abnormal philtrum" EXACT [] is_a: HP:0000177 ! Abnormality of upper lip is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000289 name: Wide philtrum namespace: medical_genetics is_a: HP:0000177 ! Abnormality of upper lip is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000290 name: Abnormality of the forehead namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000291 name: Abnormality of facial adipose tissue namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000292 name: Loss of facial adipose tissue namespace: medical_genetics def: "Loss of normal subcutaneous fat tissue in the face." [HPO:curators] synonym: "Loss of facial subcutaneous adipose tissue" EXACT [] synonym: "Loss of subcutaneous adipose tissue from face" EXACT [] is_a: HP:0000291 ! Abnormality of facial adipose tissue [Term] id: HP:0000293 name: Full cheeks namespace: medical_genetics is_a: HP:0004426 ! Abnormality of the cheeks [Term] id: HP:0000294 name: Low frontal hairline namespace: medical_genetics def: "A condition in which the scalp hair is present at lower than usual areas of the forehead." [HPO:curators] synonym: "Low anterior hairline" EXACT [] synonym: "Low-set frontal hairline" EXACT [] is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0000295 name: 'Doll-like' facies namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000297 name: Facial hypotonia namespace: medical_genetics is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0000298 name: Mask-like facies namespace: medical_genetics synonym: "Masklike facies" EXACT [] is_a: HP:0000707 ! Neurological abnormality is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0000299 name: Long, smooth philtrum namespace: medical_genetics is_a: HP:0000319 ! Flat philtrum is_a: HP:0000343 ! Long philtrum [Term] id: HP:0000300 name: Oval face namespace: medical_genetics is_a: HP:0000311 ! Round face [Term] id: HP:0000301 name: Abnormality of facial musculature namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000302 name: Facial palsy, unilateral or bilateral namespace: medical_genetics def: "Unilateral or bilateral facial palsy resulting from malfunction of the VIIth cranial (facial) nerve." [HPO:curators] is_a: HP:0002517 ! Facial palsy [Term] id: HP:0000303 name: Mandibular prognathism namespace: medical_genetics alt_id: HP:0000251 alt_id: HP:0000279 alt_id: HP:0008514 synonym: "Enlarged mandible" EXACT [] synonym: "Large mandible" EXACT [] synonym: "Mandible prognathism" EXACT [] synonym: "Prognathia" EXACT [] synonym: "Prognathism" EXACT [] synonym: "Relative mandibular prognathism" EXACT [] is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0000304 name: Round, full face namespace: medical_genetics is_a: HP:0000311 ! Round face [Term] id: HP:0000305 name: Prominent philtrum namespace: medical_genetics is_a: HP:0000215 ! Prominent upper lip is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000306 name: Abnormality of the chin namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000307 name: Pointed chin namespace: medical_genetics is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000308 name: Microretrognathia namespace: medical_genetics synonym: "Retromicrognathia" EXACT [] is_a: HP:0000210 ! Micrognathia is_a: HP:0000278 ! Retrognathia [Term] id: HP:0000309 name: Abnormality of the midface namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000310 name: Prominent midface namespace: medical_genetics is_a: HP:0000309 ! Abnormality of the midface [Term] id: HP:0000311 name: Round face namespace: medical_genetics alt_id: HP:0004653 def: "An unusually round appearance of the face." [HPO:curators] synonym: "Round facial appearance" EXACT [] synonym: "Round facies" EXACT [] is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000314 name: Bitemporal narrowing namespace: medical_genetics def: "A reduced distance between the temporal regions (temples) on each side of the head to one another." [HPO:curators] synonym: "Bitemporal narrowness" EXACT [] synonym: "Bitemporal skull narrowing" EXACT [] synonym: "Narrow bitemporal diameter" EXACT [] synonym: "Temporal narrowness" EXACT [] is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000315 name: Abnormality of the orbital region namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000316 name: Hypertelorism namespace: medical_genetics alt_id: HP:0004657 synonym: "Increased interpupillary distance" EXACT [] synonym: "Ocular hypertelorism" EXACT [] is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0000317 name: Facial myokymia namespace: medical_genetics def: "Facial myokymia is a fine fibrillary activity of the facial muscles. Facial myokymia may be caused by a plaque of multiple sclerosis or have other causes." [HPO:curators] is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0000318 name: Long, narrow facies namespace: medical_genetics synonym: "Long narrow face" EXACT [] synonym: "Long, narrow face" EXACT [] is_a: HP:0000275 ! Narrow face [Term] id: HP:0000319 name: Flat philtrum namespace: medical_genetics synonym: "Smooth philtrum" EXACT [] is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000320 name: Bird-like facies namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000321 name: Square face namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000322 name: Short philtrum namespace: medical_genetics is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000323 name: Long, flat philtrum namespace: medical_genetics is_a: HP:0000319 ! Flat philtrum is_a: HP:0000343 ! Long philtrum [Term] id: HP:0000324 name: Facial asymmetry namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000325 name: Triangular facies namespace: medical_genetics synonym: "Triangular face" EXACT [] is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000326 name: Abnormality of the maxilla namespace: medical_genetics is_a: HP:0000209 ! Abnormality of the jaws [Term] id: HP:0000327 name: Maxillary hypoplasia namespace: medical_genetics synonym: "Hypoplastic maxilla" EXACT [] synonym: "Hypoplastic maxillary bones" EXACT [] synonym: "Maxillar hypoplasia" EXACT [] synonym: "Small maxilla" EXACT [] is_a: HP:0009117 ! Aplasia/Hypoplasia of the maxilla [Term] id: HP:0000328 name: Prominent chin namespace: medical_genetics is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000329 name: Facial hemangioma namespace: medical_genetics def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face." [HPO:curators] synonym: "Facial hemangiomata" EXACT [] is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000330 name: Mild micrognathia namespace: medical_genetics alt_id: HP:0004669 synonym: "Micrognathia, mild" EXACT [] is_a: HP:0000210 ! Micrognathia [Term] id: HP:0000331 name: Small chin namespace: medical_genetics is_a: HP:0000306 ! Abnormality of the chin [Term] id: HP:0000332 name: Flat midface namespace: medical_genetics is_a: HP:0000272 ! Malar hypoplasia [Term] id: HP:0000333 name: Full forehead namespace: medical_genetics is_a: HP:0002007 ! Frontal prominence [Term] id: HP:0000334 name: Long, thin face namespace: medical_genetics is_a: HP:0000276 ! Long face [Term] id: HP:0000335 name: Wizened face namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000336 name: Prominent supraorbital ridges namespace: medical_genetics synonym: "Prominent supraorbital ridge" EXACT [] is_a: HP:0000315 ! Abnormality of the orbital region [Term] id: HP:0000337 name: Broad forehead namespace: medical_genetics alt_id: HP:0000352 def: "Abnormally large side-to-side distance of the forehead." [HPO:curators] synonym: "Wide forehead" EXACT [] is_a: HP:0002007 ! Frontal prominence [Term] id: HP:0000338 name: Hypomimic face namespace: medical_genetics is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0000339 name: 'Pugilistic facies' namespace: medical_genetics is_a: HP:0000280 ! Coarse facial features [Term] id: HP:0000340 name: Sloping forehead namespace: medical_genetics is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000341 name: Narrow forehead namespace: medical_genetics is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000342 name: High, sloping forehead namespace: medical_genetics synonym: "High, protruding forehead" EXACT [] is_a: HP:0000340 ! Sloping forehead is_a: HP:0000348 ! High forehead [Term] id: HP:0000343 name: Long philtrum namespace: medical_genetics is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0000345 name: Severe micrognathia namespace: medical_genetics is_a: HP:0000210 ! Micrognathia [Term] id: HP:0000346 name: 'Whistling' Appearance namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0000347 name: Mandibular hypoplasia namespace: medical_genetics alt_id: HP:0002674 alt_id: HP:0005460 synonym: "Hypoplastic mandible" EXACT [] synonym: "Hypoplastic mandible condyle" EXACT [] synonym: "Small mandible" EXACT [] is_a: HP:0009118 ! Aplasia/Hypoplasia of the mandible [Term] id: HP:0000348 name: High forehead namespace: medical_genetics is_a: HP:0002007 ! Frontal prominence [Term] id: HP:0000349 name: Widow's peak namespace: medical_genetics is_a: HP:0000599 ! Abnormality of the frontal hairline is_a: HP:0009553 ! Abnormality of the hairline [Term] id: HP:0000350 name: Small forehead namespace: medical_genetics is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000351 name: Receding forehead namespace: medical_genetics is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0000353 name: Facial weakness, mild namespace: medical_genetics def: "Mild facial weakness related to malfunction of the facial nerve (cranial nerve VII)." [HPO:curators] synonym: "Mild facial weakness" EXACT [] is_a: HP:0002517 ! Facial palsy [Term] id: HP:0000354 name: High, broad forehead namespace: medical_genetics def: "Abnormally large horizontal and vertical dimensions of the forehead." [HPO:curators] synonym: "Tall, broad forehead" EXACT [] is_a: HP:0000337 ! Broad forehead is_a: HP:0000348 ! High forehead [Term] id: HP:0000355 name: Hypoaldosteronism namespace: medical_genetics is_a: HP:0004319 ! Decreased aldosterone production [Term] id: HP:0000356 name: Abnormality of the outer ear namespace: medical_genetics alt_id: HP:0001752 synonym: "Abnormal pinnae" EXACT [] synonym: "Ear anomalies" EXACT [] synonym: "External ear malformations" EXACT [] synonym: "Malformed pinnae" EXACT [] synonym: "Outer ear abnormality" EXACT [] is_a: HP:0000598 ! Abnormality of the ears [Term] id: HP:0000357 name: Abnormal location of ears namespace: medical_genetics is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000358 name: Posteriorly rotated ears namespace: medical_genetics def: "A condition 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:curators] synonym: "Posteriorly angulated ears" EXACT [] synonym: "Posteriorly rotated" EXACT [] synonym: "Posteriorly rotated auricles" EXACT [] synonym: "Posteriorly-angulated ears" EXACT [] synonym: "Posteriorly-rotated ears" EXACT [] is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0000359 name: Abnormality of the inner ear namespace: medical_genetics synonym: "Inner ear abnormality" EXACT [] is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000360 name: Tinnitus namespace: medical_genetics is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000361 name: Pulsatile tinnitus (tympanic paraganglioma) namespace: medical_genetics is_a: HP:0008629 ! Pulsatile tinnitus [Term] id: HP:0000362 name: Otosclerosis namespace: medical_genetics is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0000363 name: Abnormality of ear lobes namespace: medical_genetics synonym: "Abnormal earlobes" EXACT [] is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0000364 name: Hearing abnormality namespace: medical_genetics is_a: HP:0000598 ! Abnormality of the ears [Term] id: HP:0000365 name: Hearing loss namespace: medical_genetics synonym: "Hearing defect" EXACT [] is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0000366 name: Abnormality of the nose namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0000367 name: Conductive deafness namespace: medical_genetics synonym: "Conduction deafness" EXACT [] is_a: HP:0000405 ! Hearing loss, conductive [Term] id: HP:0000368 name: Low-set, posteriorly rotated ears namespace: medical_genetics synonym: "Low-set posteriorly rotated ears" EXACT [] is_a: HP:0000358 ! Posteriorly rotated ears is_a: HP:0000369 ! Low-set ears [Term] id: HP:0000369 name: Low-set ears namespace: medical_genetics synonym: "Low set ears" EXACT [] synonym: "Lowset ears" EXACT [] is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0000370 name: Abnormality of the middle ear namespace: medical_genetics synonym: "Middle ear abnormalities" EXACT [] synonym: "Middle ear abnormality" EXACT [] is_a: HP:0000598 ! Abnormality of the ears [Term] id: HP:0000371 name: Acute otitis media namespace: medical_genetics is_a: HP:0000388 ! Otitis media [Term] id: HP:0000372 name: Auditory canal abnormality namespace: medical_genetics is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000373 name: Narrow auditory canals namespace: medical_genetics is_a: HP:0000372 ! Auditory canal abnormality [Term] id: HP:0000374 name: Sensorineural deafness namespace: medical_genetics synonym: "Deafness, neurosensory" EXACT [] synonym: "Deafness, sensorineural" EXACT [] synonym: "Neural deafness" EXACT [] synonym: "Neurosensory deafness" EXACT [] synonym: "Nonsyndromic neurosensory deafness" EXACT [] synonym: "Sensorineural hearing loss" EXACT [] is_a: HP:0000407 ! Hearing loss, sensorineural is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0000375 name: Abnormality of cochlea namespace: medical_genetics def: "An abnormality of the cochlea, which 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." [HPO:curators] is_a: HP:0000359 ! Abnormality of the inner ear [Term] id: HP:0000376 name: Mondini malformation namespace: medical_genetics def: "The normal cochlea has two and one half turns. Mondini malformation refers to the development of only one and a half turns of the cochlea. The defect usually occurs in the seventh week of gestation after development of the basal turn. There is incomplete partition with resulting confluency of the middle and apical turns." [HPO:curators] comment: Incomplete cochlea. is_a: HP:0008554 ! Cochlear malformation [Term] id: HP:0000377 name: Abnormal form of ears namespace: medical_genetics alt_id: HP:0008566 alt_id: HP:0008567 alt_id: HP:0008582 def: "Abnormal form of the out part of the ear (also referred to as the auricle or pinna)." [HPO:curators] synonym: "Abnormally shaped ears" EXACT [] synonym: "Auricular malformation" EXACT [] synonym: "Deformed auricles" EXACT [] synonym: "Deformed ears" EXACT [] synonym: "Malformed auricles" EXACT [] synonym: "Malformed ears" EXACT [] synonym: "Malformed external ears" EXACT [] is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000378 name: Cup-shaped ears namespace: medical_genetics synonym: "Cupped ears" EXACT [] is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0000379 name: Small, simple ears namespace: medical_genetics is_a: HP:0000390 ! Simple ears [Term] id: HP:0000380 name: Abnormal helices namespace: medical_genetics synonym: "Helix abnormal" EXACT [] is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0000381 name: Stapes ankylosis namespace: medical_genetics is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0000382 name: Large, prominent ears namespace: medical_genetics synonym: "Large prominent ears" EXACT [] synonym: "Large, prominent pinnae" EXACT [] is_a: HP:0000400 ! Large ears [Term] id: HP:0000383 name: Abnormality of periauricular region namespace: medical_genetics is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0000384 name: Preauricular skin tag namespace: medical_genetics def: "A rudimentary tag of ear tissue often containing a core of cartilage and located just in front of the auricle (outer part of the ear)." [HPO:curators] synonym: "Preauricular skin tags" EXACT [] synonym: "Preauricular tag" EXACT [] synonym: "Preauricular tags" EXACT [] is_a: HP:0000383 ! Abnormality of periauricular region [Term] id: HP:0000385 name: Hypoplastic ear lobes namespace: medical_genetics synonym: "Hypoplastic earlobes" EXACT [] synonym: "Hypoplastic lobules" EXACT [] is_a: HP:0000363 ! Abnormality of ear lobes [Term] id: HP:0000386 name: Large, floppy ears namespace: medical_genetics is_a: HP:0000400 ! Large ears [Term] id: HP:0000387 name: Lobeless ears namespace: medical_genetics is_a: HP:0000363 ! Abnormality of ear lobes [Term] id: HP:0000388 name: Otitis media namespace: medical_genetics is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0000389 name: Chronic otitis media namespace: medical_genetics is_a: HP:0000388 ! Otitis media [Term] id: HP:0000390 name: Simple ears namespace: medical_genetics is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0000391 name: Thickened helices namespace: medical_genetics is_a: HP:0000380 ! Abnormal helices [Term] id: HP:0000392 name: Preauricular pit namespace: medical_genetics synonym: "Preauricular earpits" EXACT [] synonym: "Preauricular pits" EXACT [] is_a: HP:0000383 ! Abnormality of periauricular region [Term] id: HP:0000393 name: Microtia namespace: medical_genetics is_a: HP:0000409 ! Small ears [Term] id: HP:0000394 name: Lop ears namespace: medical_genetics is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0000395 name: Prominent antihelix namespace: medical_genetics is_a: HP:0000380 ! Abnormal helices [Term] id: HP:0000396 name: Overfolded helices namespace: medical_genetics synonym: "Over-folded helices" EXACT [] is_a: HP:0000380 ! Abnormal helices [Term] id: HP:0000398 name: Dysplastic ears namespace: medical_genetics is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0000399 name: Deafness, sensorineural, prelingual, profound namespace: medical_genetics is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0000400 name: Large ears namespace: medical_genetics synonym: "Large pinnae" EXACT [] is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0000401 name: Large, dysplastic ears namespace: medical_genetics synonym: "Large dysplastic ears" EXACT [] is_a: HP:0000400 ! Large ears [Term] id: HP:0000402 name: Stenotic external auditory canal namespace: medical_genetics synonym: "External auditory canal stenosis" EXACT [] synonym: "Narrow external auditory canals" EXACT [] synonym: "Narrow external auditory meatus" EXACT [] synonym: "Stenotic external auditory canals" EXACT [] is_a: HP:0000372 ! Auditory canal abnormality [Term] id: HP:0000403 name: Recurrent otitis media namespace: medical_genetics synonym: "Frequent otitis media" EXACT [] synonym: "Multiple episodes of otitis media" EXACT [] synonym: "Recurrent episodes of otitis media" EXACT [] is_a: HP:0000388 ! Otitis media [Term] id: HP:0000404 name: Deafness namespace: medical_genetics is_a: HP:0000365 ! Hearing loss [Term] id: HP:0000405 name: Hearing loss, conductive namespace: medical_genetics synonym: "Conductive hearing loss" EXACT [] is_a: HP:0000365 ! Hearing loss is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0000406 name: Hearing loss, sensorineural, progressive (childhood-onset) namespace: medical_genetics is_a: HP:0000408 ! Hearing loss, sensorineural, progressive [Term] id: HP:0000407 name: Hearing loss, sensorineural namespace: medical_genetics def: "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators] synonym: "Hearing loss, neural type" EXACT [] synonym: "Neural hearing loss" EXACT [] synonym: "Neurosensory hearing loss" EXACT [] synonym: "Neurosensory nonsyndromic hearing impairment" EXACT [] synonym: "Nonsyndromic sensorineural hearing loss" EXACT [] synonym: "Sensorineural hearing impairment" EXACT [] synonym: "Sensory hearing loss" EXACT [] is_a: HP:0000359 ! Abnormality of the inner ear is_a: HP:0000365 ! Hearing loss [Term] id: HP:0000408 name: Hearing loss, sensorineural, progressive namespace: medical_genetics alt_id: HP:0000397 synonym: "Hearing loss, progressive sensorineural" EXACT [] synonym: "Sensorineural hearing loss, progressive" EXACT [] is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0000409 name: Small ears namespace: medical_genetics synonym: "Small pinnae" EXACT [] is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0000410 name: Mixed hearing loss namespace: medical_genetics is_a: HP:0000405 ! Hearing loss, conductive is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0000411 name: Protruding ears namespace: medical_genetics is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0000412 name: Prominent ears namespace: medical_genetics is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0000413 name: External auditory canal atresia namespace: medical_genetics def: "Absence or failure to form of the external auditory canal." [HPO:curators] synonym: "Absent auditory canals" EXACT [] synonym: "Atretic auditory canal" EXACT [] synonym: "Atretic auditory canals" EXACT [] synonym: "Atretic external auditory canal" EXACT [] synonym: "Atretic external auditory canals" EXACT [] synonym: "Auditory canal atresia" EXACT [] synonym: "External acoustic meatus atresia" EXACT [] synonym: "External auditory meatal atresia" EXACT [] synonym: "External auditory meatus atresia" EXACT [] is_a: HP:0000372 ! Auditory canal abnormality [Term] id: HP:0000414 name: Bulbous nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000415 name: Abnormality of the choanae namespace: medical_genetics def: "Abnormality of the choanae (the posterior nasal apertures)." [HPO:curators] is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000416 name: Choanal atresia or stenosis namespace: medical_genetics alt_id: HP:0004503 def: "Absence (atresia) or abnormal narrowing (stenosis) of the choana (the posterior nasal aperture)." [HPO:curators] synonym: "Choanal atresia/stenosis" EXACT [] synonym: "Choanal stenosis or atresia" EXACT [] is_a: HP:0000415 ! Abnormality of the choanae [Term] id: HP:0000417 name: Slender nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000418 name: Pinched nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000419 name: Abnormality of the nasal septum namespace: medical_genetics is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000420 name: Short nasal septum namespace: medical_genetics is_a: HP:0000419 ! Abnormality of the nasal septum [Term] id: HP:0000421 name: Epistaxis namespace: medical_genetics is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000422 name: Abnormality of the nasal bridge namespace: medical_genetics def: "Abnormality of the nasal bridge, which is the upper, bony part of the nose." [HPO:curators] is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000423 name: Abnormality of the nasal root namespace: medical_genetics is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000424 name: Broad nasal root namespace: medical_genetics is_a: HP:0000423 ! Abnormality of the nasal root [Term] id: HP:0000425 name: Flattened nasal bridge namespace: medical_genetics def: "Abnormally flat or low upper, bony part of the nose." [HPO:curators] synonym: "Depressed nasal bridge" EXACT [] synonym: "Depressed nasal root" EXACT [] synonym: "Depresssed nasal bridge" EXACT [] synonym: "Flat nasal bridge" EXACT [] synonym: "Flat, nasal bridge" EXACT [] is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000426 name: Prominent nasal bridge namespace: medical_genetics is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000427 name: Upturned nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000428 name: Low nasal bridge namespace: medical_genetics is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000429 name: Abnormality of the nasal alae namespace: medical_genetics is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000430 name: Hypoplastic nasal alae namespace: medical_genetics def: "Hypoplasia (underdevelopment) of the wings (alae) of the nose (the cartilagenous lateral parts)." [HPO:curators] 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 [] is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0000431 name: Broad nasal bridge namespace: medical_genetics def: "Increased horizontal dimension of the upper, bony part of the nose." [HPO:curators] synonym: "Broadened nasal bridge" EXACT [] synonym: "Nasal bridge broad" EXACT [] synonym: "Wide nasal bridge" EXACT [] synonym: "Widened nasal bridge" EXACT [] is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000432 name: Prominent nasal root namespace: medical_genetics is_a: HP:0000423 ! Abnormality of the nasal root [Term] id: HP:0000433 name: Abnormality of the nasal mucosa namespace: medical_genetics is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000434 name: Nasal mucosa telangiectases namespace: medical_genetics is_a: HP:0000433 ! Abnormality of the nasal mucosa [Term] id: HP:0000435 name: Upturned nasal tip namespace: medical_genetics is_a: HP:0000427 ! Upturned nose is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000436 name: Abnormality of the nasal tip namespace: medical_genetics is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000437 name: Flat nasal tip namespace: medical_genetics synonym: "Depressed nasal tip" EXACT [] is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000438 name: Short, broad nose namespace: medical_genetics is_a: HP:0000440 ! Hypoplastic nose is_a: HP:0000445 ! Broad nose is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000439 name: Flat, broad nasal bridge namespace: medical_genetics def: "Increased horizontal dimension and depression (flatness) of the upper, bony part of the nose." [HPO:curators] synonym: "Broad flat nasal bridge" EXACT [] synonym: "Broad, flat bridge" EXACT [] synonym: "Broad, flat nasal bridge" EXACT [] is_a: HP:0000425 ! Flattened nasal bridge is_a: HP:0000431 ! Broad nasal bridge [Term] id: HP:0000440 name: Hypoplastic nose namespace: medical_genetics alt_id: HP:0000449 synonym: "Short nose" EXACT [] synonym: "Small nose" EXACT [] is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000441 name: Short, upturned nose namespace: medical_genetics synonym: "Short upturned nose" EXACT [] is_a: HP:0000427 ! Upturned nose [Term] id: HP:0000442 name: High nasal bridge namespace: medical_genetics is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000443 name: Bulbous nasal tip namespace: medical_genetics is_a: HP:0000414 ! Bulbous nose [Term] id: HP:0000444 name: Beaked nose namespace: medical_genetics synonym: "Beaklike protrusion" EXACT [] is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000445 name: Broad nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000446 name: Narrow nasal bridge namespace: medical_genetics is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0000447 name: Pear-shaped nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000448 name: Prominent nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000450 name: Small, pointed nose namespace: medical_genetics synonym: "Thin, small pointed nose" EXACT [] is_a: HP:0000440 ! Hypoplastic nose [Term] id: HP:0000451 name: Triangular nasal tip namespace: medical_genetics is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000452 name: Choanal stenosis namespace: medical_genetics def: "Abnormal narrowing of the choana (the posterior nasal aperture)." [HPO:curators] synonym: "Coanal stenosis" EXACT [] is_a: HP:0000416 ! Choanal atresia or stenosis [Term] id: HP:0000453 name: Choanal atresia namespace: medical_genetics def: "Absence or abnormal closure of the choana (the posterior nasal aperture)." [HPO:curators] is_a: HP:0000416 ! Choanal atresia or stenosis [Term] id: HP:0000454 name: Flared nostrils namespace: medical_genetics is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0000455 name: Broad nasal tip namespace: medical_genetics is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0000456 name: Bifid nasal tip namespace: medical_genetics def: "A splitting of the nasal tip." [HPO:curators] is_a: HP:0004122 ! Bifid nose, midline groove, or dimple on nasal tip [Term] id: HP:0000457 name: Flat nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000458 name: Anosmia namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0004408 ! Abnormality of the sense of smell [Term] id: HP:0000460 name: Narrow nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000461 name: Large nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0000462 name: Nasal polyps namespace: medical_genetics is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0000463 name: Anteverted nostrils namespace: medical_genetics synonym: "Anteverted nares" EXACT [] synonym: "Anteverted nose" EXACT [] synonym: "Nostrils anteverted" EXACT [] is_a: HP:0000429 ! Abnormality of the nasal alae is_a: HP:0005288 ! Abnormality of the nares [Term] id: HP:0000464 name: Neck abnormality namespace: medical_genetics is_a: HP:0000152 ! Head and neck abnormality [Term] id: HP:0000465 name: Webbed neck namespace: medical_genetics synonym: "Pterygium colli" EXACT [] is_a: HP:0000464 ! Neck abnormality [Term] id: HP:0000466 name: Limited neck range of motion namespace: medical_genetics is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0000467 name: Neck muscle weakness namespace: medical_genetics is_a: HP:0000464 ! Neck abnormality is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0000468 name: Normal or increased adipose tissue around the neck namespace: medical_genetics is_a: HP:0000464 ! Neck abnormality [Term] id: HP:0000470 name: Short neck namespace: medical_genetics alt_id: HP:0005992 synonym: "Relatively short neck" EXACT [] is_a: HP:0000464 ! Neck abnormality is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0000471 name: Gastrointestinal angiodysplasia namespace: medical_genetics is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature [Term] id: HP:0000472 name: Long neck namespace: medical_genetics is_a: HP:0000464 ! Neck abnormality [Term] id: HP:0000473 name: Torticollis namespace: medical_genetics is_a: HP:0000464 ! Neck abnormality is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0000474 name: Excess nuchal skin namespace: medical_genetics synonym: "Redundant nuchal skin" EXACT [] is_a: HP:0000464 ! Neck abnormality [Term] id: HP:0000475 name: Broad neck namespace: medical_genetics is_a: HP:0000464 ! Neck abnormality [Term] id: HP:0000476 name: Cystic hygroma namespace: medical_genetics is_a: HP:0000464 ! Neck abnormality [Term] id: HP:0000477 name: Nuchal skin folds namespace: medical_genetics is_a: HP:0000474 ! Excess nuchal skin [Term] id: HP:0000478 name: Eye abnormality namespace: medical_genetics is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0000479 name: Abnormality of the retina namespace: medical_genetics is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0000480 name: Retinal coloboma namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0000589 ! Coloboma [Term] id: HP:0000481 name: Abnormality of the cornea namespace: medical_genetics synonym: "Corneal abnormalities" EXACT [] synonym: "Corneal abnormality" EXACT [] is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0000482 name: Microcornea namespace: medical_genetics is_a: HP:0001120 ! Abnormality of corneal size or shape [Term] id: HP:0000483 name: Astigmatism namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000484 name: Hyperopic astigmatism namespace: medical_genetics is_a: HP:0000483 ! Astigmatism [Term] id: HP:0000485 name: Megalocornea namespace: medical_genetics is_a: HP:0001120 ! Abnormality of corneal size or shape [Term] id: HP:0000486 name: Strabismus namespace: medical_genetics def: "Strabismus (also known as squint) is a condition in which the eyes are not properly aligned with each other." [HPO:curators] synonym: "Squint" EXACT [] is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000487 name: Congenital strabismus namespace: medical_genetics is_a: HP:0000486 ! Strabismus [Term] id: HP:0000488 name: Retinopathy namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000489 name: Abnormality of globe location or size namespace: medical_genetics is_a: HP:0000284 ! Abnormality of the ocular region is_a: HP:0000315 ! Abnormality of the orbital region is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000490 name: Deep set eyes namespace: medical_genetics synonym: "Deep-set eyes" EXACT [] is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0000491 name: Keratitis namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000492 name: Abnormality of the eyelid namespace: medical_genetics alt_id: HP:0000285 synonym: "Abnormality of the eyelids" EXACT [] is_a: HP:0000284 ! Abnormality of the ocular region is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000493 name: Abnormality of the fovea namespace: medical_genetics is_a: HP:0001103 ! Abnormality of the macula created_by: peter creation_date: 2008-04-02T01:29:00Z [Term] id: HP:0000494 name: Downward slanting palpebral fissures namespace: medical_genetics synonym: "Antimongoloid eye slant" EXACT [] synonym: "Antimongoloid slant of palpebral fissures" EXACT [] synonym: "Antimongoloid slanted palpebral fissures" EXACT [] synonym: "Down slanting palpebral fissures" EXACT [] synonym: "Down-slanted palpebral fissures" EXACT [] synonym: "Down-slanting palpebral fissure" EXACT [] synonym: "Down-slanting palpebral fissures" EXACT [] synonym: "Downslanting palpebral fissure" EXACT [] synonym: "Downslanting palpebral fissures" EXACT [] synonym: "Downward slanted palpebral fissures" EXACT [] synonym: "Downward-slanting palpebral fissures" EXACT [] synonym: "Palpebral fissures down-slanted" EXACT [] is_a: HP:0008050 ! Abnormality of the palpebral fissures [Term] id: HP:0000495 name: Corneal ulceration namespace: medical_genetics synonym: "Corneal ulcerations" EXACT [] is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000496 name: Abnormality of eye movement namespace: medical_genetics 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 [] is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000497 name: Globe retraction and deviation on abduction namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000498 name: Blepharitis namespace: medical_genetics is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000499 name: Abnormality of the eyelashes namespace: medical_genetics synonym: "Eyelash abnormality" EXACT [] is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0000500 name: Long, curly eyelashes namespace: medical_genetics synonym: "Abundant and curly eyelashes" EXACT [] synonym: "Long curly eyelashes" EXACT [] is_a: HP:0000527 ! Long eyelashes [Term] id: HP:0000501 name: Glaucoma namespace: medical_genetics def: "Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure." [HPO:curators] is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000502 name: Abnormality of the conjunctiva namespace: medical_genetics is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000503 name: Tortuosity of conjunctival vessels namespace: medical_genetics is_a: HP:0008054 ! Abnormality of the vasculature of the conjunctiva [Term] id: HP:0000504 name: Abnormality of vision namespace: medical_genetics is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000505 name: Impaired vision namespace: medical_genetics alt_id: HP:0000516 synonym: "Decreased visual acuity" EXACT [] synonym: "Poor vision" EXACT [] synonym: "Poor visual acuity" EXACT [] synonym: "Reduced visual acuity" EXACT [] synonym: "Visual impairment" EXACT [] is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000506 name: Telecanthus namespace: medical_genetics def: "An abnormally increased distance between the medial canthi (angle between eyelids) of the eyelids." [HPO:curators] comment: Dystopia canthorum (also called telecanthus) describes a subtle but unusual facial feature in which the inner corners of the eyes (canthi) are spaced farther apart than normal, yet the eyes (pupils) themselves are normally spaced. synonym: "Dystopia canthorum" EXACT [] is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000507 name: Short palpebral fissure namespace: medical_genetics synonym: "Short palpebral fissures" EXACT [] is_a: HP:0008050 ! Abnormality of the palpebral fissures [Term] id: HP:0000508 name: Ptosis namespace: medical_genetics synonym: "Blepharoptosis" EXACT [] is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000509 name: Conjunctivitis namespace: medical_genetics is_a: HP:0000502 ! Abnormality of the conjunctiva [Term] id: HP:0000510 name: Retinitis pigmentosa namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000511 name: Vertical supranuclear gaze palsy namespace: medical_genetics is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0000512 name: Abnormal electroretinogram (ERG) namespace: medical_genetics alt_id: HP:0003285 synonym: "Abnormal electroretinogram" EXACT [] synonym: "Abnormal ERG" EXACT [] is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000513 name: Narrow palpebral fissures namespace: medical_genetics is_a: HP:0008050 ! Abnormality of the palpebral fissures [Term] id: HP:0000514 name: Slow saccades namespace: medical_genetics is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000515 name: Corneal clouding namespace: medical_genetics synonym: "Cloudy cornea" EXACT [] synonym: "Corneal opacities" EXACT [] synonym: "Corneal opacity" EXACT [] is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000517 name: Abnormality of the lens namespace: medical_genetics is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0000518 name: Cataract namespace: medical_genetics def: "A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule." [HPO:curators] synonym: "Cataracts" EXACT [] is_a: HP:0000517 ! Abnormality of the lens [Term] id: HP:0000519 name: Congenital cataract namespace: medical_genetics def: "A congenital cataract (opacity or clouding of the lens)." [HPO:curators] synonym: "Cataract, congenital" EXACT [] synonym: "Congenital cataracts" EXACT [] is_a: HP:0000518 ! Cataract [Term] id: HP:0000520 name: Proptosis namespace: medical_genetics synonym: "Ocular proptosis" EXACT [] synonym: "Protruding eyes" EXACT [] is_a: HP:0000644 ! Anterior bulging of the globe [Term] id: HP:0000521 name: Abnormality of tear glands or tear production namespace: medical_genetics is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000522 name: Alacrima namespace: medical_genetics is_a: HP:0000632 ! Lacrimation abnormality [Term] id: HP:0000523 name: Subcapsular cataracts namespace: medical_genetics synonym: "Subcapsular cataract" EXACT [] is_a: HP:0000518 ! Cataract [Term] id: HP:0000524 name: Conjunctival telangiectases namespace: medical_genetics synonym: "Conjunctival telangiectasia" EXACT [] synonym: "Telangiectasia, conjunctival" EXACT [] is_a: HP:0008054 ! Abnormality of the vasculature of the conjunctiva [Term] id: HP:0000525 name: Abnormality of the iris namespace: medical_genetics is_a: HP:0000553 ! Abnormality of the uvea is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0000526 name: Aniridia namespace: medical_genetics is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris [Term] id: HP:0000527 name: Long eyelashes namespace: medical_genetics synonym: "Unusually long eyelashes" EXACT [] is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0000528 name: Anophthalmia namespace: medical_genetics is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye [Term] id: HP:0000529 name: Progressive visual loss namespace: medical_genetics synonym: "Progressive loss of vision" EXACT [] synonym: "Progressive vision loss" EXACT [] synonym: "Progressive visual acuity loss" EXACT [] synonym: "Progressive visual impairment" EXACT [] is_a: HP:0000572 ! Visual loss [Term] id: HP:0000530 name: Saccadic slow pursuit namespace: medical_genetics synonym: "Saccadic pursuit movements" EXACT [] is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000531 name: Corneal crystals namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000532 name: Chorioretinal abnormality namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0000533 name: Chorioretinal atrophy namespace: medical_genetics is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0000534 name: Abnormality of the eyebrow namespace: medical_genetics is_a: HP:0000284 ! Abnormality of the ocular region is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0000535 name: Sparse eyebrows namespace: medical_genetics synonym: "Thin, sparse eyebrows" EXACT [] is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0000536 name: Prominent eyes namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000537 name: Epicanthus inversus namespace: medical_genetics is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000538 name: Pseudopapilledema namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000539 name: Abnormality of refraction namespace: medical_genetics is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000540 name: Hypermetropia namespace: medical_genetics synonym: "Hyperopia" EXACT [] is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000541 name: Detached retina namespace: medical_genetics synonym: "Retinal detachment" EXACT [] is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000542 name: Impaired ocular adduction namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000543 name: Pale optic disks namespace: medical_genetics alt_id: HP:0001484 synonym: "Pale optic disc" EXACT [] synonym: "Pale optic discs" EXACT [] synonym: "Pale optic disk" EXACT [] is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0000544 name: External ophthalmoplegia namespace: medical_genetics synonym: "Ophthalmoplegia externa" EXACT [] is_a: HP:0000496 ! Abnormality of eye movement is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000545 name: Myopia namespace: medical_genetics is_a: HP:0000539 ! Abnormality of refraction [Term] id: HP:0000546 name: Retinal degeneration namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000547 name: Tapetoretinal degeneration namespace: medical_genetics is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0000548 name: Cone-rod dystrophy namespace: medical_genetics synonym: "Cone-rod retinal dystrophy" EXACT [] is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0000549 name: Disconjugate eye movements namespace: medical_genetics synonym: "Abnormal conjugate eye movement" EXACT [] is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000550 name: Abolished electroretinogram (ERG) namespace: medical_genetics synonym: "Abolished electroretinogram" EXACT [] synonym: "Absent electroretinogram" EXACT [] synonym: "Extinction of electroretinogram" EXACT [] synonym: "Extinguished electroretinogram" EXACT [] is_a: HP:0000512 ! Abnormal electroretinogram (ERG) [Term] id: HP:0000551 name: Abnormal color vision namespace: medical_genetics synonym: "Dyschromatopsia" EXACT [] is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000552 name: Blue-yellow dyschromatopsia namespace: medical_genetics synonym: "Dyschromatopsia, blue-yellow" EXACT [] is_a: HP:0000551 ! Abnormal color vision [Term] id: HP:0000553 name: Abnormality of the uvea namespace: medical_genetics is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000554 name: Uveitis namespace: medical_genetics is_a: HP:0000553 ! Abnormality of the uvea [Term] id: HP:0000555 name: Leukocoria namespace: medical_genetics comment: Presence of a white pupil. is_a: HP:0000615 ! Abnormality of the pupils [Term] id: HP:0000556 name: Retinal dystrophy namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000557 name: Buphthalmos namespace: medical_genetics def: "Buphthalmos refers to a congenital open-angle glaucoma of the eye. The term buphthalmos (from Greek 'bous' or ox and 'ophthalmos' or eye) is descriptive of an enlarged eyeglobe resulting from increased intraocular pressure. The eyeglobe is especially prone to distension in newborns and infants because its collagen filaments are not as rigid as in adults and may easily be stretched." [HPO:curators] is_a: HP:0001087 ! Congenital glaucoma [Term] id: HP:0000558 name: Rieger anomaly namespace: medical_genetics comment: Hypoplasia (underdevelopment) of the iris as well as iris strands to the peripheral cornea. is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0000559 name: Corneal scarring namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000560 name: Progressive visual loss (4 to 10 years) namespace: medical_genetics is_a: HP:0000529 ! Progressive visual loss [Term] id: HP:0000561 name: Absent eyelashes namespace: medical_genetics is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0000563 name: Keratoconus namespace: medical_genetics is_a: HP:0001120 ! Abnormality of corneal size or shape [Term] id: HP:0000564 name: Lacrimal duct atresia namespace: medical_genetics synonym: "Nasolacrimal duct atresia" EXACT [] is_a: HP:0000614 ! Lacrimal duct abnormalities [Term] id: HP:0000565 name: Esotropia namespace: medical_genetics synonym: "Convergent strabismus" EXACT [] is_a: HP:0000486 ! Strabismus [Term] id: HP:0000566 name: Visual impairment (childhood onset) namespace: medical_genetics synonym: "Visual impairment (childhood-onset)" EXACT [] is_a: HP:0000505 ! Impaired vision [Term] id: HP:0000567 name: Chorioretinal coloboma namespace: medical_genetics synonym: "Choroidoretinal coloboma" EXACT [] is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0000568 name: Microphthalmos namespace: medical_genetics def: "A developmental anomaly characterized by abnormal smallness of one or both eyes." [HPO:curators] synonym: "Microphthalmia" EXACT [] synonym: "Microphthalmus" RELATED [] is_a: HP:0001143 ! Small eyes [Term] id: HP:0000569 name: Severe myopia (> -6.00 diopters) namespace: medical_genetics synonym: "High myopia" EXACT [] synonym: "Severe myopia" EXACT [] is_a: HP:0000545 ! Myopia [Term] id: HP:0000570 name: Abnormality of saccadic eye movements namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000571 name: Hypometric saccades namespace: medical_genetics is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000572 name: Visual loss namespace: medical_genetics synonym: "Loss of vision" EXACT [] is_a: HP:0000505 ! Impaired vision [Term] id: HP:0000573 name: Retinal hemorrhage namespace: medical_genetics synonym: "Retinal bleeding" EXACT [] synonym: "Retinal hemorrhages" EXACT [] is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0000574 name: Thick eyebrows namespace: medical_genetics synonym: "Bushy eyebrows" EXACT [] synonym: "Heavy eyebrows" EXACT [] synonym: "Large, prominent eyebrow" EXACT [] synonym: "Prominent eyebrows" EXACT [] is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0000575 name: Scotoma namespace: medical_genetics def: "Scotoma refers to an area or island of loss or impairment of visual acuity surrounded by a field of normal or relatively well-preserved vision." [HPO:curators] is_a: HP:0001123 ! Visual field defects [Term] id: HP:0000576 name: Centrocecal scotoma namespace: medical_genetics is_a: HP:0000575 ! Scotoma [Term] id: HP:0000577 name: Exotropia namespace: medical_genetics is_a: HP:0000486 ! Strabismus [Term] id: HP:0000578 name: Hypertelorism, mild namespace: medical_genetics synonym: "Mild hypertelorism" EXACT [] is_a: HP:0000316 ! Hypertelorism [Term] id: HP:0000579 name: Nasolacrimal duct obstruction namespace: medical_genetics synonym: "Lacrimal duct obstruction" EXACT [] is_a: HP:0000614 ! Lacrimal duct abnormalities [Term] id: HP:0000580 name: Pigmentary retinopathy namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0000581 name: Blepharophimosis namespace: medical_genetics is_a: HP:0008050 ! Abnormality of the palpebral fissures [Term] id: HP:0000582 name: Upslanting palpebral fissures namespace: medical_genetics synonym: "Mongoloid slant" EXACT [] synonym: "Upslanted palpebral fissures" EXACT [] synonym: "Upward slanted palpebral fissures" EXACT [] synonym: "Upward slanting of palpebral fissures" EXACT [] synonym: "Upward slanting palpebral fissures" EXACT [] is_a: HP:0008050 ! Abnormality of the palpebral fissures [Term] id: HP:0000584 name: Punctate corneal epithelial erosions namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000585 name: Band keratopathy namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0000586 name: Shallow orbits namespace: medical_genetics is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0000587 name: Abnormality of the optic nerve namespace: medical_genetics is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0000588 name: Optic nerve coloboma namespace: medical_genetics synonym: "Coloboma of optic nerve" EXACT [] is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0000589 ! Coloboma [Term] id: HP:0000589 name: Coloboma namespace: medical_genetics is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000590 name: External ophthalmoplegia, progressive (PEO) namespace: medical_genetics alt_id: HP:0000562 synonym: "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA" EXACT [] is_a: HP:0000496 ! Abnormality of eye movement is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0000591 name: Abnormality of the sclera namespace: medical_genetics is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000592 name: Blue sclerae namespace: medical_genetics synonym: "Blue sclera" EXACT [] synonym: "Bluish sclerae" EXACT [] is_a: HP:0000591 ! Abnormality of the sclera [Term] id: HP:0000593 name: Abnormality of the anterior chamber namespace: medical_genetics synonym: "Anterior chamber anomalies" EXACT [] synonym: "Ocular anterior chamber abnormality" EXACT [] is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0000594 name: Shallow anterior chamber namespace: medical_genetics is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0000595 name: Cortical blindness namespace: medical_genetics is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000597 name: Ophthalmoparesis namespace: medical_genetics alt_id: HP:0007701 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 [] is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000598 name: Abnormality of the ears namespace: medical_genetics 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 ! Organ abnormality [Term] id: HP:0000599 name: Abnormality of the frontal hairline namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face is_a: HP:0009553 ! Abnormality of the hairline created_by: peter creation_date: 2008-02-27T05:34:00Z [Term] id: HP:0000600 name: Abnormality of the pharynx namespace: medical_genetics is_a: HP:0000234 ! Head abnormality [Term] id: HP:0000601 name: Hypotelorism namespace: medical_genetics alt_id: HP:0007877 synonym: "Ocular hypotelorism" EXACT [] is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0000602 name: Ophthalmoplegia namespace: medical_genetics is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0000603 name: Central scotoma namespace: medical_genetics synonym: "Central scotomata" EXACT [] is_a: HP:0000575 ! Scotoma [Term] id: HP:0000604 name: Impaired saccades namespace: medical_genetics is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000605 name: Supranuclear gaze palsy namespace: medical_genetics synonym: "Supranuclear gaze paralysis" EXACT [] is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0000606 name: Abnormality of the periorbital region namespace: medical_genetics is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000607 name: Periorbital wrinkles namespace: medical_genetics synonym: "Excess periorbital skin wrinkling" EXACT [] synonym: "Periorbital wrinkling" EXACT [] is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0000608 name: Macular degeneration namespace: medical_genetics is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0000609 name: Optic nerve hypoplasia namespace: medical_genetics alt_id: HP:0007273 synonym: "Hypoplastic optic nerves" EXACT [] is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system [Term] id: HP:0000610 name: Abnormality of the choroid namespace: medical_genetics is_a: HP:0000553 ! Abnormality of the uvea is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0000611 name: Choroid coloboma namespace: medical_genetics synonym: "Choroidal coloboma" EXACT [] synonym: "Coloboma of choroid " EXACT [] is_a: HP:0000589 ! Coloboma is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0000612 name: Iris coloboma namespace: medical_genetics synonym: "Coloboma of iris" EXACT [] synonym: "Coloboma of the iris" EXACT [] is_a: HP:0000525 ! Abnormality of the iris is_a: HP:0000589 ! Coloboma [Term] id: HP:0000613 name: Photophobia namespace: medical_genetics is_a: HP:0000504 ! Abnormality of vision is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0000614 name: Lacrimal duct abnormalities namespace: medical_genetics is_a: HP:0000521 ! Abnormality of tear glands or tear production [Term] id: HP:0000615 name: Abnormality of the pupils namespace: medical_genetics alt_id: HP:0008018 synonym: "Pupillary abnormalities" EXACT [] is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000616 name: Miosis namespace: medical_genetics is_a: HP:0000615 ! Abnormality of the pupils [Term] id: HP:0000617 name: Impaired smooth pursuit namespace: medical_genetics synonym: "Impaired smooth pursuit ocular movements" EXACT [] synonym: "Irregular visual pursuit movements" EXACT [] is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000618 name: Blindness namespace: medical_genetics is_a: HP:0000505 ! Impaired vision [Term] id: HP:0000619 name: Impaired convergence namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000620 name: Dacrocystitis namespace: medical_genetics synonym: "Dacryocystitis" EXACT [] is_a: HP:0000614 ! Lacrimal duct abnormalities [Term] id: HP:0000621 name: Entropion namespace: medical_genetics is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000622 name: Blurred vision namespace: medical_genetics is_a: HP:0000505 ! Impaired vision [Term] id: HP:0000623 name: Supranuclear ophthalmoplegia namespace: medical_genetics is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0000624 name: Epicanthal folds, mild namespace: medical_genetics is_a: HP:0000286 ! Epicanthal folds [Term] id: HP:0000625 name: Eyelid coloboma namespace: medical_genetics synonym: "Eyelid colobomas" EXACT [] is_a: HP:0000492 ! Abnormality of the eyelid is_a: HP:0000589 ! Coloboma [Term] id: HP:0000626 name: Puffy eyelids namespace: medical_genetics synonym: "Puffy lids" EXACT [] is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000627 name: Posterior embryotoxon namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000628 name: Abnormal, jerky eye movements namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000629 name: Periorbital fullness namespace: medical_genetics synonym: "Periorbital puffiness" EXACT [] is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0000630 name: Abnormality of retinal arteries namespace: medical_genetics synonym: "Retinal arterial abnormality" EXACT [] is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0000631 name: Retinal arterial tortuosity namespace: medical_genetics is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0000632 name: Lacrimation abnormality namespace: medical_genetics is_a: HP:0000521 ! Abnormality of tear glands or tear production [Term] id: HP:0000633 name: Decreased lacrimation namespace: medical_genetics is_a: HP:0000632 ! Lacrimation abnormality [Term] id: HP:0000634 name: Impaired ocular abduction namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0000635 name: Blue irides namespace: medical_genetics synonym: "Blue eyes" EXACT [] is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0000636 name: Upper eyelid coloboma namespace: medical_genetics synonym: "Upper eyelid colobomas" EXACT [] is_a: HP:0000625 ! Eyelid coloboma [Term] id: HP:0000637 name: Wide palpebral fissures namespace: medical_genetics synonym: "Long palpebral fissures" EXACT [] is_a: HP:0008050 ! Abnormality of the palpebral fissures [Term] id: HP:0000639 name: Nystagmus namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0000640 name: Gaze-evoked nystagmus namespace: medical_genetics is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000641 name: Dysmetric saccades namespace: medical_genetics is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0000642 name: Red-green dyschromatopsia namespace: medical_genetics is_a: HP:0000551 ! Abnormal color vision [Term] id: HP:0000643 name: Blepharospasm namespace: medical_genetics def: "An involuntary recurrent spasm of both eyelids." [HPO:curators] is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000644 name: Anterior bulging of the globe namespace: medical_genetics 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). is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0000645 name: Exophthalmos namespace: medical_genetics is_a: HP:0000644 ! Anterior bulging of the globe [Term] id: HP:0000646 name: Amblyopia namespace: medical_genetics is_a: HP:0000505 ! Impaired vision [Term] id: HP:0000647 name: Sclerocornea namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0000648 name: Optic atrophy namespace: medical_genetics synonym: "OPtic nerve atrophy" EXACT [] is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0000649 name: Abnormality of vision evoked potentials namespace: medical_genetics synonym: "Abnormal visual evoked potential" EXACT [] synonym: "Abnormal visual evoked potentials" EXACT [] synonym: "Abnormal visual evoked responses" EXACT [] synonym: "Abnormal visual-evoked potentials" EXACT [] is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000650 name: Pattern visual evoked potentials show reduced amplitude namespace: medical_genetics is_a: HP:0000649 ! Abnormality of vision evoked potentials [Term] id: HP:0000651 name: Diplopia namespace: medical_genetics is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000652 name: Lower eyelid coloboma namespace: medical_genetics synonym: "Lower lid coloboma" EXACT [] is_a: HP:0000625 ! Eyelid coloboma [Term] id: HP:0000653 name: Sparse eyelashes namespace: medical_genetics synonym: "Thin, sparse eyelashes" EXACT [] is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0000654 name: Decreased electroretinogram (ERG) namespace: medical_genetics synonym: "Decreased amplitudes on flash visual electroretinogram" EXACT [] synonym: "Decreased electroretinogram" EXACT [] synonym: "Decreased electroretinogram response" EXACT [] synonym: "Electroretinography shows decreased amplitudes" EXACT [] synonym: "Reduced electroretinogram" EXACT [] synonym: "Reduced electroretinogram (ERG)" EXACT [] is_a: HP:0000512 ! Abnormal electroretinogram (ERG) [Term] id: HP:0000655 name: Vitreoretinal degeneration namespace: medical_genetics is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0000656 name: Ectropion namespace: medical_genetics comment: Ectropion irefers to a turning outwards of lower eyelid. is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000657 name: Oculomotor apraxia namespace: medical_genetics synonym: "Ocular motor apraxia" EXACT [] is_a: HP:0000496 ! Abnormality of eye movement is_a: HP:0002186 ! Apraxia [Term] id: HP:0000658 name: Eyelid apraxia namespace: medical_genetics is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0000659 name: Peters anomaly namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea is_a: HP:0000525 ! Abnormality of the iris [Term] id: HP:0000660 name: Lipemia retinalis namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0000661 name: Palpebral fissure narrowing on adduction namespace: medical_genetics is_a: HP:0000513 ! Narrow palpebral fissures [Term] id: HP:0000662 name: Night blindness namespace: medical_genetics is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0000663 name: Enophthalmos namespace: medical_genetics is_a: HP:0000490 ! Deep set eyes [Term] id: HP:0000664 name: Synophrys namespace: medical_genetics alt_id: HP:0002210 synonym: "Synophris" EXACT [] is_a: HP:0000534 ! Abnormality of the eyebrow is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0000665 name: Lens dislocation namespace: medical_genetics synonym: "Dislocated lens" EXACT [] synonym: "Dislocated lenses" EXACT [] is_a: HP:0000517 ! Abnormality of the lens [Term] id: HP:0000666 name: Nystagmus, horizontal namespace: medical_genetics synonym: "Horizontal nystagmus" EXACT [] is_a: HP:0000639 ! Nystagmus [Term] id: HP:0000667 name: Phthisis bulbi namespace: medical_genetics comment: Phthisis bulbi refers to atrophy and degeneration of a blind eye. is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0000668 name: Hypodontia namespace: medical_genetics def: "Hypodontia describes a situation when there are fewer than the normal number of teeth, whereby 6 teeth or fewer teeth are missing (oligodontia refers to the condition of missing more than 6 teeth and the congenital absence of all teeth is called anodontia)." [HPO:curators] comment: Having fewer than the regular number of teeth. is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0000669 name: Widely spaced upper incisors namespace: medical_genetics synonym: "Separated superior central incisors" EXACT [] synonym: "Wide gap between upper central incisors" EXACT [] is_a: HP:0000676 ! Abnormality of the incisors [Term] id: HP:0000670 name: Carious teeth namespace: medical_genetics synonym: "Caries" EXACT [] synonym: "Dental caries" EXACT [] synonym: "Frequent caries" EXACT [] is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0000672 name: Supernumerary teeth namespace: medical_genetics is_a: HP:0006483 ! Abnormal number of teeth [Term] id: HP:0000673 name: Peg-shaped incisors namespace: medical_genetics is_a: HP:0000676 ! Abnormality of the incisors [Term] id: HP:0000674 name: Anodontia namespace: medical_genetics alt_id: HP:0006484 def: "The congenital absence of all teeth." [HPO:curators] synonym: "Dental agenesis" EXACT [] is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0000675 name: Prominent upper central incisors namespace: medical_genetics synonym: "Long maxillary central incisors" EXACT [] synonym: "Prominent upper incisors" EXACT [] synonym: "Prominent, protruding upper incisors" EXACT [] is_a: HP:0000676 ! Abnormality of the incisors [Term] id: HP:0000676 name: Abnormality of the incisors namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0000677 name: Oligodontia namespace: medical_genetics def: "The condition of missing over 6 teeth (Missing up to 6 teeth is referred to a hypodontia)." [HPO:curators] is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0000678 name: Dental overcrowding namespace: medical_genetics synonym: "Crowded teeth" EXACT [] synonym: "Dental crowding" EXACT [] is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000679 name: Taurodontia namespace: medical_genetics comment: Body of the tooth and pulp chamber is enlarged. synonym: "Taurodontism" EXACT [] is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0000680 name: Delayed eruption of deciduous teeth namespace: medical_genetics synonym: "Delayed eruption of primary teeth" EXACT [] synonym: "Delayed primary teeth eruption" EXACT [] is_a: HP:0000684 ! Delayed dentition [Term] id: HP:0000681 name: Missing teeth namespace: medical_genetics is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0000682 name: Abnormality of dental enamel namespace: medical_genetics def: "An abnormality of the dental enamel, which is the external layer of the teeth, being a highly mineralized substance consisting primarily of hydroxylapatite." [HPO:curators] synonym: "Abnormal tooth enamel" EXACT [] synonym: "Enamel abnormalities" EXACT [] synonym: "Enamel abnormality" EXACT [] is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0000683 name: Grayish enamel namespace: medical_genetics is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0000684 name: Delayed dentition namespace: medical_genetics alt_id: HP:0006314 synonym: "Delayed dental development" EXACT [] is_a: HP:0006292 ! Abnormalities of dental eruption [Term] id: HP:0000685 name: Hypoplastic teeth namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0000686 name: Delayed tooth eruption namespace: medical_genetics synonym: "Delayed dental eruption" EXACT [] synonym: "Delayed eruption" EXACT [] synonym: "Delayed teeth eruption" EXACT [] synonym: "Late tooth eruption" EXACT [] is_a: HP:0000684 ! Delayed dentition [Term] id: HP:0000687 name: Widely spaced teeth namespace: medical_genetics synonym: "Wide-spaced teeth" EXACT [] synonym: "Widely-spaced teeth" EXACT [] is_a: HP:0006478 ! Abnormality of teeth spacing [Term] id: HP:0000688 name: Absent/hypoplastic teeth namespace: medical_genetics is_a: HP:0000685 ! Hypoplastic teeth [Term] id: HP:0000689 name: Dental malocclusion namespace: medical_genetics synonym: "Malocclusion" EXACT [] is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000690 name: Absent upper lateral incisors namespace: medical_genetics synonym: "Agenesis of upper lateral incisors" EXACT [] is_a: HP:0006485 ! Absence of incisors [Term] id: HP:0000691 name: Microdontia namespace: medical_genetics synonym: "Small teeth" EXACT [] is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0000692 name: Misalignment of teeth namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0000693 name: Malaligned teeth namespace: medical_genetics is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0000694 name: Shell teeth namespace: medical_genetics is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0000695 name: Neonatal teeth namespace: medical_genetics synonym: "Natal teeth" EXACT [] is_a: HP:0006292 ! Abnormalities of dental eruption [Term] id: HP:0000696 name: delayed eruption of secondary teeth namespace: medical_genetics synonym: "Delayed eruption of permanent teeth" EXACT [] synonym: "Delayed permanent dentition" EXACT [] is_a: HP:0000684 ! Delayed dentition [Term] id: HP:0000697 name: Misshapen teeth namespace: medical_genetics synonym: "Abnormally shaped teeth" EXACT [] synonym: "Malformed teeth" EXACT [] synonym: "Misshapened teeth" EXACT [] is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0000698 name: Conical teeth namespace: medical_genetics is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0000699 name: Diastema namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0000700 name: Periapical radiolucencies namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0000701 name: Loss of teeth namespace: medical_genetics synonym: "Premature tooth loss" EXACT [] is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0000702 name: Partial anodontia namespace: medical_genetics is_a: HP:0000674 ! Anodontia [Term] id: HP:0000703 name: Dentinogenesis imperfecta namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0000704 name: Periodontal disease namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0000705 name: Amelogenesis imperfecta namespace: medical_genetics is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0000706 name: Unerupted teeth namespace: medical_genetics is_a: HP:0000684 ! Delayed dentition [Term] id: HP:0000707 name: Neurological abnormality namespace: medical_genetics synonym: "Neurologic abnormalities" EXACT [] is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0000708 name: Behavioural/Psychiatric Manifestations namespace: medical_genetics synonym: "Behavioral/psychiatric abnormalities" EXACT [] is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0000709 name: Psychosis namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000710 name: Hyperorality namespace: medical_genetics synonym: "Hyperoralia" EXACT [] is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000711 name: Restlessness namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000712 name: Emotional lability namespace: medical_genetics synonym: "Emotional instability" EXACT [] is_a: HP:0001296 ! Mood alterations [Term] id: HP:0000713 name: Agitation namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000714 name: Auditory and visual halucinations namespace: medical_genetics synonym: "Auditory and visual hallucinations" EXACT [] is_a: HP:0000738 ! Hallucinations [Term] id: HP:0000715 name: Behavioral disturbances namespace: medical_genetics synonym: "Behavioral changes" EXACT [] synonym: "Behavioral disorders" EXACT [] synonym: "Behavioral problems" EXACT [] is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000716 name: Depression namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000717 name: Autism namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000718 name: Aggressiveness namespace: medical_genetics synonym: "Aggression" EXACT [] synonym: "Aggressive behavior" EXACT [] is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000719 name: Inappropriate behavior namespace: medical_genetics is_a: HP:0000715 ! Behavioral disturbances [Term] id: HP:0000720 name: Mood swings namespace: medical_genetics def: "An exaggeration of emotional affects such as laughing crying, or yawning beyond what the person feels." [HPO:curators] is_a: HP:0001296 ! Mood alterations [Term] id: HP:0000721 name: Lack of spontaneous play namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000722 name: Obsessive-compulsive disorder namespace: medical_genetics synonym: "Obsessive compulsive disorder" EXACT [] synonym: "Obsessive-compulsive behavior" EXACT [] is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000723 name: Restrictive behaviour, interests, and activities namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000724 name: Hyperphagia namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000725 name: Psychotic episodes namespace: medical_genetics is_a: HP:0000709 ! Psychosis [Term] id: HP:0000726 name: Dementia namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations is_a: HP:0002302 ! Cognitive abnormality [Term] id: HP:0000727 name: Frontal lobe dementia namespace: medical_genetics is_a: HP:0000726 ! Dementia [Term] id: HP:0000728 name: Impaired ability to form peer relationships namespace: medical_genetics is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000729 name: Pervasive developmental disorder namespace: medical_genetics is_a: HP:0000754 ! Developmental delay [Term] id: HP:0000730 name: Poor school performance namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000732 name: Inflexible adherence to routines or rituals namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000733 name: Stereotyped, repetitive behaviour namespace: medical_genetics synonym: "Stereotyped behavior" EXACT [] synonym: "Stereotypic behavior" EXACT [] synonym: "Stereotypic behaviors" EXACT [] synonym: "Sterotyped behavior" EXACT [] is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000734 name: Disinhibition namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000735 name: Impaired social interactions namespace: medical_genetics synonym: "Impaired social interaction" EXACT [] synonym: "Poor social interactions" EXACT [] is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000736 name: Short attention span namespace: medical_genetics def: "Reduced attention span characterized by distractibility and impulsivity but not necessarily satisfying the diagnostic criteria for attention deficit hyperactivity disorder." [HPO:curators] synonym: "Poor attention span" EXACT [] is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000737 name: Irritability namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000738 name: Hallucinations namespace: medical_genetics synonym: "Hallucination" EXACT [] is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000739 name: Anxiety namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000740 name: Anxiety (with pheochromocytoma) namespace: medical_genetics is_a: HP:0000739 ! Anxiety [Term] id: HP:0000741 name: Apathy namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000742 name: Self-mutilation namespace: medical_genetics synonym: "Self mutilation" EXACT [] is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000743 name: Frontal release signs namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000744 name: Low frustration tolerance namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000745 name: Lack of motivation namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000746 name: Delusions namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000747 name: Forgetfulness namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000748 name: Inappropriate laughter namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000749 name: Paroxysmal bursts of laughter namespace: medical_genetics synonym: "Paroxysmal laughter" EXACT [] is_a: HP:0000748 ! Inappropriate laughter [Term] id: HP:0000750 name: Impaired language development namespace: medical_genetics synonym: "Poor language development" EXACT [] is_a: HP:0000754 ! Developmental delay [Term] id: HP:0000751 name: Personality changes namespace: medical_genetics synonym: "Personality change" EXACT [] is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000752 name: Hyperactivity namespace: medical_genetics synonym: "Hyperactive behavior" EXACT [] is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000753 name: Relatively higher cognitive abilities than classic autism (608636) namespace: medical_genetics is_a: HP:0000717 ! Autism [Term] id: HP:0000754 name: Developmental delay namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0000756 name: Agoraphobia namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000757 name: Lack of insight namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0000758 name: Impaired use of nonverbal behaviors, such as eye-to-eye gaze, facial expression, body posture, and gestures namespace: medical_genetics is_a: HP:0000715 ! Behavioral disturbances [Term] id: HP:0000759 name: Abnormality of the peripheral nervous system namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0000760 name: Decreased motor nerve conduction velocity (NCV) (less than 38 m/s) namespace: medical_genetics is_a: HP:0003431 ! Decreased motor nerve conduction velocity (NCV) [Term] id: HP:0000761 name: Decreased nerve conduction velocities (NCV), suggesting demyelination namespace: medical_genetics synonym: "Decreased nerve conduction velocities , suggesting demyelination" EXACT [] is_a: HP:0000762 ! Decreased nerve conduction velocities [Term] id: HP:0000762 name: Decreased nerve conduction velocities namespace: medical_genetics synonym: "Abnormal nerve conduction" EXACT [] synonym: "Decreased nerve conduction velocity" EXACT [] synonym: "Delayed nerve conduction velocity" EXACT [] synonym: "Nerve conduction abnormalities" EXACT [] synonym: "Nerve conduction velocity slowing" EXACT [] synonym: "Reduced nerve conduction velocities" EXACT [] synonym: "Slow motor nerve conduction velocities" EXACT [] synonym: "Slow nerve conduction velocity" EXACT [] synonym: "Slowed nerve conduction velocities" EXACT [] is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0000763 name: Sensory neuropathy namespace: medical_genetics alt_id: HP:0003410 def: "Peripheral neuropathy affecting primarily the sensory nerves." [HPO:curators] synonym: "Peripheral sensory neuropathy" EXACT [] is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0000764 name: Axonal degeneration namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0000765 name: Abnormality of the thorax namespace: medical_genetics is_a: HP:0009121 ! Abnormality of the axial skeleton [Term] id: HP:0000766 name: Abnormality of the sternum namespace: medical_genetics alt_id: HP:0000780 synonym: "Pectus deformities" EXACT [] synonym: "Pectus deformity" EXACT [] synonym: "Sternal anomalies" EXACT [] is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000767 name: Pectus excavatum namespace: medical_genetics def: "A defect of the chest wall characterized by a depression of the sternum, giving the chest (\"pectus\") a caved-in (\"excavatum\") appearance." [HPO:curators] synonym: "Funnel chest" EXACT [] is_a: HP:0006708 ! Pectus excavatum/carinatum [Term] id: HP:0000768 name: Pectus carinatum namespace: medical_genetics is_a: HP:0006708 ! Pectus excavatum/carinatum [Term] id: HP:0000769 name: Abnormality of the breasts namespace: medical_genetics is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0000770 name: Male breast abnormality namespace: medical_genetics is_a: HP:0000769 ! Abnormality of the breasts [Term] id: HP:0000771 name: Gynecomastia namespace: medical_genetics is_a: HP:0000770 ! Male breast abnormality [Term] id: HP:0000772 name: Abnormality of the ribs namespace: medical_genetics alt_id: HP:0006618 synonym: "Rib abnormalities" EXACT [] synonym: "Rib anomalies" EXACT [] is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000773 name: Short ribs namespace: medical_genetics is_a: HP:0000908 ! Hypoplastic ribs [Term] id: HP:0000774 name: Narrow chest namespace: medical_genetics alt_id: HP:0000909 synonym: "Narrow shoulders" EXACT [] synonym: "Narrow thorax" EXACT [] is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0000775 name: Abnormality of the diaphragm namespace: medical_genetics alt_id: HP:0005204 synonym: "Diaphragmatic defect" EXACT [] is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0001438 ! Abdomen abnormality is_a: HP:0002086 ! Respiratory abnormality [Term] id: HP:0000776 name: Diaphragmatic hernia namespace: medical_genetics is_a: HP:0000775 ! Abnormality of the diaphragm [Term] id: HP:0000777 name: Abnormality of the thymus namespace: medical_genetics synonym: "Thymic hypoplasia" EXACT [] is_a: HP:0002715 ! Immunological abnormality [Term] id: HP:0000778 name: Thymus hypoplasia namespace: medical_genetics is_a: HP:0000777 ! Abnormality of the thymus [Term] id: HP:0000782 name: Abnormality of the scapulae namespace: medical_genetics is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000784 name: Underdeveloped breasts namespace: medical_genetics is_a: HP:0003187 ! Breast hypoplasia [Term] id: HP:0000786 name: Primary amenorrhea namespace: medical_genetics is_a: HP:0000141 ! Amenorrhea [Term] id: HP:0000787 name: Kidney stones namespace: medical_genetics alt_id: HP:0000102 synonym: "Nephrolithiasis" EXACT [] synonym: "Renal calculi" EXACT [] synonym: "Renal stones" EXACT [] is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000789 name: Infertility namespace: medical_genetics is_a: HP:0000144 ! Decreased fertility [Term] id: HP:0000790 name: Hematuria namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0000791 name: Uric acid urolithiasis namespace: medical_genetics is_a: HP:0000787 ! Kidney stones [Term] id: HP:0000792 name: Kidney malformation namespace: medical_genetics alt_id: HP:0004726 synonym: "Structural kidney abnormalities" EXACT [] synonym: "Structural renal anomalies" EXACT [] is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000793 name: Membranoproliferative glomerulonephritis namespace: medical_genetics is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0000794 name: IgA nephropathy namespace: medical_genetics is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0000795 name: Abnormality of the urethra namespace: medical_genetics is_a: HP:0000032 ! Abnormality of male external genitalia is_a: HP:0000079 ! Abnormality of the urinary tract [Term] id: HP:0000796 name: Urethral obstruction namespace: medical_genetics is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0000798 name: Oligospermia namespace: medical_genetics is_a: HP:0000025 ! Functional abnormality of male internal genitalia [Term] id: HP:0000799 name: Fatty kidneys namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000800 name: Cystic renal dysplasia namespace: medical_genetics synonym: "Bilateral cystic dysplasia" EXACT [] synonym: "Renal cystic dysplasia" EXACT [] synonym: "Renal dysplasia, cystic" EXACT [] is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000801 name: Nephrosis namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000802 name: Impotence namespace: medical_genetics is_a: HP:0000080 ! Genital functional abnormality [Term] id: HP:0000803 name: Renal cortical cysts namespace: medical_genetics synonym: "Cortical cysts" EXACT [] synonym: "Venal cortical cysts" EXACT [] is_a: HP:0000107 ! Renal cysts [Term] id: HP:0000804 name: Urinary xanthine stones namespace: medical_genetics synonym: "Xanthine stones" EXACT [] is_a: HP:0000787 ! Kidney stones [Term] id: HP:0000805 name: Enuresis namespace: medical_genetics is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0000806 name: Selective proximal tubular damage namespace: medical_genetics is_a: HP:0000114 ! Proximal renal tubule defect [Term] id: HP:0000807 name: Glandular hypospadias namespace: medical_genetics is_a: HP:0000047 ! Hypospadias [Term] id: HP:0000808 name: Penoscrotal hypospadias namespace: medical_genetics is_a: HP:0003244 ! Penile hypospadias [Term] id: HP:0000809 name: Urinary tract atresia namespace: medical_genetics is_a: HP:0000079 ! Abnormality of the urinary tract created_by: peter creation_date: 2008-02-27T04:07:00Z [Term] id: HP:0000810 name: Orotic acid urinary obstruction namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0000811 name: Abnormal external genitalia namespace: medical_genetics is_a: HP:0000078 ! Abnormality of the genital tract [Term] id: HP:0000812 name: Abnormal internal genitalia namespace: medical_genetics is_a: HP:0000078 ! Abnormality of the genital tract [Term] id: HP:0000813 name: Bicornuate uterus namespace: medical_genetics is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0000814 name: Multiple small renal cortical cysts namespace: medical_genetics is_a: HP:0000803 ! Renal cortical cysts [Term] id: HP:0000815 name: Hypergonadotropic hypogonadism namespace: medical_genetics alt_id: HP:0008679 def: "Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay." [HPO:curators] synonym: "Hypergonadotrophic hypogonadism" EXACT [] synonym: "Primary hypogonadism" EXACT [] is_a: HP:0000135 ! Hypogonadism [Term] id: HP:0000816 name: Abnormality of Krebs cycle metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-17T12:58:00Z [Term] id: HP:0000817 name: Poor eye contact namespace: medical_genetics is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0000818 name: Endocrine abnormality namespace: medical_genetics is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0000819 name: Diabetes mellitus namespace: medical_genetics synonym: "Diabetes mellitus, insulin-dependent" EXACT [] synonym: "Insulin dependent diabetes mellitus" EXACT [] synonym: "Insulin- dependent diabetes mellitus" EXACT [] synonym: "Insulin-dependent diabetes mellitus" EXACT [] is_a: HP:0000818 ! Endocrine abnormality is_a: HP:0001952 ! Abnormal glucose tolerance [Term] id: HP:0000820 name: Abnormality of the thyroid gland namespace: medical_genetics synonym: "Thyroid abnormality" EXACT [] synonym: "Thyroid disease" EXACT [] is_a: HP:0000818 ! Endocrine abnormality [Term] id: HP:0000821 name: Hypothyroidism namespace: medical_genetics is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0000822 name: Hypertension namespace: medical_genetics alt_id: HP:0004949 alt_id: HP:0005126 def: "High blood pressure." [HPO:curators] synonym: "Systemic hypertension" EXACT [] is_a: HP:0000818 ! Endocrine abnormality is_a: HP:0001626 ! Cardiovascular abnormality [Term] id: HP:0000823 name: Delayed puberty namespace: medical_genetics synonym: "Delalyed puberty" EXACT [] synonym: "Delayed pubertal development" EXACT [] is_a: HP:0001510 ! Growth retardation is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000824 name: Growth hormone deficiency namespace: medical_genetics is_a: HP:0000844 ! Growth hormone, and pituitary disorders is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0000825 name: Hyperinsulinemic hypoglycemia namespace: medical_genetics synonym: "Hyperinsulinemia hypoglycemia" EXACT [] is_a: HP:0000842 ! Hyperinsulinemia [Term] id: HP:0000826 name: Precocious puberty namespace: medical_genetics is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000828 name: Parathyroid disorders namespace: medical_genetics is_a: HP:0000818 ! Endocrine abnormality [Term] id: HP:0000829 name: Hypoparathyroidism namespace: medical_genetics is_a: HP:0000828 ! Parathyroid disorders [Term] id: HP:0000830 name: Hypopituitarism namespace: medical_genetics is_a: HP:0000838 ! Pituitary abnormalities [Term] id: HP:0000831 name: Insulin-resistant diabetes mellitus namespace: medical_genetics synonym: "Insulin resistant diabetes" EXACT [] synonym: "Insulin resistant diabetes mellitus" EXACT [] synonym: "Insulin-resistant diabetes" EXACT [] is_a: HP:0000855 ! Insulin resistance [Term] id: HP:0000832 name: Primary hypothyroidism namespace: medical_genetics is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0000833 name: Glucose intolerance namespace: medical_genetics synonym: "Impaired glucose tolerance" EXACT [] is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0000834 name: Abnormality of the adrenal glands namespace: medical_genetics synonym: "Adrenal abnormalities" EXACT [] is_a: HP:0000818 ! Endocrine abnormality [Term] id: HP:0000835 name: Adrenal hypoplasia namespace: medical_genetics synonym: "Adrenal gland hypoplasia" EXACT [] synonym: "Hypoplastic adrenal glands" EXACT [] synonym: "Small adrenal glands" EXACT [] is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0000836 name: Hyperthyroidism namespace: medical_genetics is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0000837 name: Elevated gonadotropins namespace: medical_genetics synonym: "Elevated serum gonadotropins" EXACT [] is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000838 name: Pituitary abnormalities namespace: medical_genetics is_a: HP:0000844 ! Growth hormone, and pituitary disorders [Term] id: HP:0000839 name: Pituitary dwarfism namespace: medical_genetics is_a: HP:0000838 ! Pituitary abnormalities [Term] id: HP:0000840 name: Adrenogenital syndrome namespace: medical_genetics alt_id: HP:0001921 comment: Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. synonym: "Adrenal hyperplasia" EXACT [] is_a: HP:0004317 ! Decreased cortisol production is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000841 name: Hyperactive renin-angiotensin system namespace: medical_genetics is_a: HP:0000847 ! Abnormalities of renin-angiotensin system [Term] id: HP:0000842 name: Hyperinsulinemia namespace: medical_genetics is_a: HP:0000818 ! Endocrine abnormality is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0000843 name: Hyperparathyroidism namespace: medical_genetics is_a: HP:0000828 ! Parathyroid disorders [Term] id: HP:0000844 name: Growth hormone, and pituitary disorders namespace: medical_genetics is_a: HP:0000864 ! Disorders of the hypothalamus-pituitary axis [Term] id: HP:0000845 name: Acromegaly namespace: medical_genetics comment: Disorder resulting from excess pituitary gland production od growth hormone (hGH). is_a: HP:0000838 ! Pituitary abnormalities [Term] id: HP:0000846 name: Adrenal insufficiency namespace: medical_genetics is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0000847 name: Abnormalities of renin-angiotensin system namespace: medical_genetics is_a: HP:0000822 ! Hypertension [Term] id: HP:0000848 name: Increased plasma renin namespace: medical_genetics synonym: "Elevated plasma renin" EXACT [] is_a: HP:0000847 ! Abnormalities of renin-angiotensin system [Term] id: HP:0000849 name: Adrenocortical abnormality namespace: medical_genetics is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0000850 name: Cushing syndrome namespace: medical_genetics is_a: HP:0004316 ! Increased cortisol production [Term] id: HP:0000851 name: Congenital hypothyroidism namespace: medical_genetics synonym: "Hypothyroidism, congenital" EXACT [] is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0000852 name: Pseudohypoparathyroidism namespace: medical_genetics is_a: HP:0000828 ! Parathyroid disorders [Term] id: HP:0000853 name: Goiter namespace: medical_genetics is_a: HP:0000464 ! Neck abnormality is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0000854 name: Thyroid adenoma namespace: medical_genetics is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0000855 name: Insulin resistance namespace: medical_genetics is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0000856 name: Low parathyroid hormone namespace: medical_genetics is_a: HP:0000829 ! Hypoparathyroidism [Term] id: HP:0000857 name: Neonatal insulin-dependent diabetes mellitus namespace: medical_genetics is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000858 name: Menstrual irregularities namespace: medical_genetics synonym: "Menstrual irregularity" EXACT [] is_a: HP:0000140 ! Menstrual abnormalities [Term] id: HP:0000859 name: Increased plasma aldosterone namespace: medical_genetics synonym: "Elevated plasma aldosterone" EXACT [] synonym: "Increased aldosterone" EXACT [] is_a: HP:0002855 ! Abnormality of aldosterone production [Term] id: HP:0000860 name: Parathyroid hypoplasia namespace: medical_genetics is_a: HP:0000828 ! Parathyroid disorders [Term] id: HP:0000861 name: Isolated growth hormone deficiency namespace: medical_genetics is_a: HP:0000824 ! Growth hormone deficiency [Term] id: HP:0000862 name: Addison disease namespace: medical_genetics comment: Deficiency of both glucocorticoids and mineralocorticoids. synonym: "Addison's disease" EXACT [] is_a: HP:0000865 ! Hypoadrenalism created_by: peter creation_date: 2008-02-25T10:51:00Z [Term] id: HP:0000863 name: Central diabetes insipidus namespace: medical_genetics alt_id: HP:0008210 def: "A form of diabetes insipidus related to a failure of vasopressin (AVP) release from the hypothalamus." [HPO:curators] synonym: "Neurohypophyseal diabetes insipidus" EXACT [] is_a: HP:0000864 ! Disorders of the hypothalamus-pituitary axis is_a: HP:0000873 ! Diabetes insipidus [Term] id: HP:0000864 name: Disorders of the hypothalamus-pituitary axis namespace: medical_genetics is_a: HP:0000818 ! Endocrine abnormality [Term] id: HP:0000865 name: Hypoadrenalism namespace: medical_genetics is_a: HP:0004317 ! Decreased cortisol production is_a: HP:0004319 ! Decreased aldosterone production [Term] id: HP:0000866 name: Euthyroid multinodular goiter namespace: medical_genetics is_a: HP:0005987 ! Multinodular goiter is_a: HP:0009798 ! Euthyroid goiter [Term] id: HP:0000867 name: Secondary hyperparathyroidism namespace: medical_genetics is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0000868 name: Decreased fertility in females namespace: medical_genetics synonym: "Reduced fertility in females" EXACT [] is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0000869 name: Secondary amenorrhea namespace: medical_genetics is_a: HP:0000141 ! Amenorrhea [Term] id: HP:0000870 name: Hyperprolactinemia namespace: medical_genetics is_a: HP:0000838 ! Pituitary abnormalities [Term] id: HP:0000871 name: Panhypopituitarism namespace: medical_genetics is_a: HP:0000830 ! Hypopituitarism [Term] id: HP:0000872 name: Hashimoto thyroiditis namespace: medical_genetics is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0000873 name: Diabetes insipidus namespace: medical_genetics def: "A state of excessive water intake and hypotonic (dilute) polyuria. Diabetes insipidus may be due to failure of vasopressin (AVP) release (central or neurogenic diabetes insipidus) or to a failure of the kidney to respond to AVP (nephrogenic diabetes insipidus)." [HPO:curators] is_a: HP:0000818 ! Endocrine abnormality [Term] id: HP:0000874 name: Glucocorticoid insufficiency namespace: medical_genetics is_a: HP:0004317 ! Decreased cortisol production [Term] id: HP:0000875 name: Episodic hypertension namespace: medical_genetics is_a: HP:0000822 ! Hypertension [Term] id: HP:0000876 name: Oligomenorrhea namespace: medical_genetics comment: Misspelled synonym added because word is misspelled in omim. synonym: "Oligomnenorrhea" EXACT [] is_a: HP:0000140 ! Menstrual abnormalities [Term] id: HP:0000877 name: Insulin-resistant diabetes mellitus at puberty namespace: medical_genetics is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0000878 name: 11 pairs of ribs namespace: medical_genetics is_a: HP:0000921 ! Missing ribs [Term] id: HP:0000879 name: Short sternum namespace: medical_genetics is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0000881 name: Absent ribs namespace: medical_genetics is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000882 name: Hypoplastic scapulae namespace: medical_genetics alt_id: HP:0006616 synonym: "Hypoplastic scapula" EXACT [] synonym: "Scapular hypoplasia" EXACT [] is_a: HP:0006713 ! Aplasia/Hypoplasia of the scapulae [Term] id: HP:0000883 name: Thin ribs namespace: medical_genetics synonym: "Slender ribs" EXACT [] is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000884 name: Prominent sternum namespace: medical_genetics synonym: "Sternal protrusion" EXACT [] is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0000885 name: Broad ribs namespace: medical_genetics alt_id: HP:0000903 synonym: "Wide ribs" EXACT [] is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000886 name: Deformed rib cage namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0000887 name: Cupped ribs namespace: medical_genetics synonym: "Rib cupping" EXACT [] is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000888 name: Short, horizontal ribs namespace: medical_genetics is_a: HP:0000773 ! Short ribs [Term] id: HP:0000889 name: Abnormality of the clavicules namespace: medical_genetics is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0000890 name: Long clavicles namespace: medical_genetics synonym: "Elongated clavicles" EXACT [] is_a: HP:0000889 ! Abnormality of the clavicules [Term] id: HP:0000891 name: Cervical ribs namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000892 name: Bifid ribs namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000893 name: 'Bulging' of the costochondral junction namespace: medical_genetics is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0000894 name: Short clavicles namespace: medical_genetics is_a: HP:0000898 ! Hypoplastic clavicles [Term] id: HP:0000895 name: Hooked clavicles namespace: medical_genetics synonym: "Hook-shaped clavicles" EXACT [] is_a: HP:0000889 ! Abnormality of the clavicules [Term] id: HP:0000896 name: Rib exostoses namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000897 name: Rachitic rosary namespace: medical_genetics is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0000898 name: Hypoplastic clavicles namespace: medical_genetics alt_id: HP:0005698 synonym: "Clavicular hypoplasia" EXACT [] synonym: "Underdeveloped clavicles" EXACT [] is_a: HP:0006710 ! Aplasia/Hypoplasia of the clavicles [Term] id: HP:0000899 name: Short, thin ribs namespace: medical_genetics is_a: HP:0000773 ! Short ribs is_a: HP:0000883 ! Thin ribs [Term] id: HP:0000900 name: Thickened ribs namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000902 name: Rib fusion namespace: medical_genetics alt_id: HP:0000880 synonym: "Fused ribs" EXACT [] is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000904 name: Flaring of rib cage namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000905 name: Progressive acroosteolysis of the clavicle namespace: medical_genetics is_a: HP:0000889 ! Abnormality of the clavicules [Term] id: HP:0000906 name: Short scapulae namespace: medical_genetics synonym: "Small scapula" EXACT [] synonym: "Small scapulae" EXACT [] is_a: HP:0000882 ! Hypoplastic scapulae [Term] id: HP:0000907 name: Anterior rib cupping namespace: medical_genetics synonym: "Anterior cupping of ribs" EXACT [] is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000908 name: Hypoplastic ribs namespace: medical_genetics synonym: "Rib hypoplasia" EXACT [] is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000910 name: Wide-cupped costochondral junctions namespace: medical_genetics is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0000911 name: Flat glenoid fossa namespace: medical_genetics is_a: HP:0000782 ! Abnormality of the scapulae [Term] id: HP:0000912 name: Sprengel anomaly namespace: medical_genetics synonym: "Sprengel deformity" EXACT [] is_a: HP:0000782 ! Abnormality of the scapulae [Term] id: HP:0000913 name: Posterior rib fusion namespace: medical_genetics is_a: HP:0000902 ! Rib fusion [Term] id: HP:0000914 name: Shield chest namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0000915 name: Pectus excavatum inferiorly namespace: medical_genetics def: "Pectus excavatum (defect of the chest wall characterized by depression of the sternum) affecting primarily the inferior region of the sternum." [HPO:curators] is_a: HP:0000767 ! Pectus excavatum [Term] id: HP:0000916 name: Broad clavicles namespace: medical_genetics is_a: HP:0000889 ! Abnormality of the clavicules [Term] id: HP:0000917 name: Pectus carinatum superiorly namespace: medical_genetics is_a: HP:0000768 ! Pectus carinatum [Term] id: HP:0000918 name: Scapular exostoses namespace: medical_genetics synonym: "Scapulae exostoses" EXACT [] is_a: HP:0000782 ! Abnormality of the scapulae [Term] id: HP:0000919 name: Abnormalities of the costochondral junction namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000920 name: Enlargement of the costochondral junction namespace: medical_genetics synonym: "Costochondral thickening" EXACT [] synonym: "Enlarged costochondral junctions" EXACT [] synonym: "Prominent costochondral junction" EXACT [] synonym: "Wide costochondral junctions" EXACT [] synonym: "Widened costochondral junction" EXACT [] is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0000921 name: Missing ribs namespace: medical_genetics is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0000922 name: Posterior rib cupping namespace: medical_genetics is_a: HP:0000887 ! Cupped ribs [Term] id: HP:0000923 name: Beaded ribs namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0000924 name: Abnormality of the musculoskeletal system namespace: medical_genetics def: "An abnormality of the musculoskeletal system including one or more abnormalities affecting bones, muscles, cartilage, tendons, ligaments, joints, and other connective tissue." [HPO:curators] synonym: "Skeletal abnormalities" EXACT [] synonym: "Skeletal anomalies" EXACT [] is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0000925 name: Abnormality of the vertebral column namespace: medical_genetics synonym: "Abnormal vertebral bodies" EXACT [] synonym: "Abnormal vertebral column" EXACT [] synonym: "Vertebral abnormalities" EXACT [] synonym: "Vertebral anomalies" EXACT [] is_a: HP:0009121 ! Abnormality of the axial skeleton [Term] id: HP:0000926 name: Platyspondyly namespace: medical_genetics alt_id: HP:0004623 alt_id: HP:0004627 alt_id: HP:0005123 synonym: "Flat vertebral bodies" EXACT [] synonym: "flattened vertebrae" EXACT [] synonym: "flattened vertebral bodies" EXACT [] synonym: "marked platyspondyly" EXACT [] is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0000927 name: Abnormality of skeletal maturation namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0000929 name: Abnormality of the skull namespace: medical_genetics def: "An abnormality of the skull, the bony framework of the head which is comprised of eight cranial and fourteen facial bones." [HPO:curators] is_a: HP:0000234 ! Head abnormality is_a: HP:0009121 ! Abnormality of the axial skeleton [Term] id: HP:0000930 name: Elevated imprint of the transverse sinuses namespace: medical_genetics is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0000931 name: Thinning and bulging of the posterior fossa bones namespace: medical_genetics synonym: "Thinning and bulging of posterior fossa bones" EXACT [] is_a: HP:0000932 ! Abnormality of the posterior fossa [Term] id: HP:0000932 name: Abnormality of the posterior fossa namespace: medical_genetics synonym: "Posterior fossa anomaly" EXACT [] is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0000933 name: Posterior fossa cyst at the fourth ventricle namespace: medical_genetics is_a: HP:0007291 ! Posterior fossa cysts [Term] id: HP:0000934 name: Chondrocalcinosis namespace: medical_genetics comment: Radiographic evidence of calcification in hyaline or fibrocartilage. is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0000935 name: Thickened cortex of long bones namespace: medical_genetics def: "Abnormal thickening of the cortex of long bones." [HPO:curators] synonym: "Broad cortex of long bones" EXACT [] synonym: "Cortical thickening of the long bones" EXACT [] synonym: "Thickened cortices of long bones" EXACT [] is_a: HP:0003103 ! Abnormality of cortical bone [Term] id: HP:0000937 name: Cone-shaped epiphyses namespace: medical_genetics is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0000938 name: Osteopenia namespace: medical_genetics alt_id: HP:0002768 alt_id: HP:0002800 def: "Osteopenia refers to a reduction in bone mineral density (BMD) below normal peak BMD but not low enough to be classified as osteoporosis. According to the WHO, osteopenia is characterized by a value of BMD more than 1 standard deviation below the young adult mean, but less than 2 standard deviations below this value." [HPO:curators] synonym: "Decreased bone mineral density" EXACT [] synonym: "Generalized osteopenia" EXACT [] is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000939 name: Osteoporosis namespace: medical_genetics alt_id: HP:0002774 def: "Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO, osteoporosis is characterized by a value of BMD 2.5 standard deviations or more below the young adult mean." [HPO:curators] synonym: "Generalized osteoporosis" EXACT [] is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0000940 name: Abnormality of the diaphyses namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0000941 name: Short diaphyses namespace: medical_genetics is_a: HP:0000940 ! Abnormality of the diaphyses [Term] id: HP:0000942 name: Wide vertebral clefts namespace: medical_genetics is_a: HP:0008428 ! Vertebral clefts [Term] id: HP:0000943 name: Dysostosis multiplex namespace: medical_genetics synonym: "Dyostosis multiplex" EXACT [] is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0000944 name: Abnormality of the metaphyses namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0000945 name: Flared irregular metaphyses namespace: medical_genetics synonym: "Flared and irregular metaphyses" EXACT [] synonym: "Flared metaphyses" EXACT [] synonym: "Irregular, flared metaphyses" EXACT [] synonym: "Metaphyseal flaring and irregularity" EXACT [] is_a: HP:0003015 ! Metaphyseal flaring [Term] id: HP:0000946 name: Hypoplastic ilia namespace: medical_genetics alt_id: HP:0003176 synonym: "Small iliac bones" EXACT [] is_a: HP:0002867 ! Iliac abnormalities [Term] id: HP:0000947 name: Dumbbell-shaped long bones namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0000948 name: Metaphyseal dysplasia namespace: medical_genetics is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0000949 name: Short tubular bones namespace: medical_genetics synonym: "Short, tubular bones" EXACT [] synonym: "Short, tubular long bones" EXACT [] is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities [Term] id: HP:0000950 name: Broad short ribs namespace: medical_genetics synonym: "Wide short ribs" RELATED [] is_a: HP:0000773 ! Short ribs is_a: HP:0000885 ! Broad ribs [Term] id: HP:0000951 name: Skin abnormality namespace: medical_genetics alt_id: HP:0005591 synonym: "Subcutaneous ossifications" EXACT [] is_a: HP:0001574 ! Integument abnormality [Term] id: HP:0000952 name: Jaundice namespace: medical_genetics subset: Secondary consequence is_a: HP:0001005 ! Dermatological manifestations of systemic disorders is_a: HP:0001396 ! Cholestasis [Term] id: HP:0000953 name: Hyperpigmentation namespace: medical_genetics synonym: "Cutaneous hyperpigmentation" EXACT [] synonym: "Skin hyperpigmentation" EXACT [] is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0000954 name: Transverse palmar creases namespace: medical_genetics alt_id: HP:0006214 synonym: "Bilateral simian creases" EXACT [] synonym: "Bilateral single transverse palmar creases" EXACT [] synonym: "Bilateral transverse palmar creases" EXACT [] synonym: "Simian crease" EXACT [] synonym: "Simian creases" EXACT [] synonym: "Single flexion crease" EXACT [] synonym: "Single palmar crease" EXACT [] synonym: "Single palmar creases" EXACT [] synonym: "Single transverse palmar crease" EXACT [] synonym: "Single transverse palmar creases" EXACT [] synonym: "Transverse palmar crease" EXACT [] is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0000955 name: Ichthyosis namespace: medical_genetics synonym: "Ichthyotic skin" EXACT [] is_a: HP:0001035 ! Abnormality of keratinization [Term] id: HP:0000956 name: Acanthosis nigricans namespace: medical_genetics subset: Secondary consequence is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0000957 name: Cafe-au-lait spots namespace: medical_genetics synonym: "Cafe au lait spots" EXACT [] is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0000958 name: Dry skin namespace: medical_genetics synonym: "Xerosis" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000960 name: Sacral dimple namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000961 name: Cyanosis namespace: medical_genetics is_a: HP:0001005 ! Dermatological manifestations of systemic disorders is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0000962 name: Hyperkeratosis namespace: medical_genetics 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] is_a: HP:0001035 ! Abnormality of keratinization [Term] id: HP:0000963 name: Thin skin namespace: medical_genetics is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0000964 name: Eczema namespace: medical_genetics alt_id: HP:0001481 def: "Eczema is a form of dermatitis. The term eczema is broadly applied to a range of persistent skin conditions and can be related to a number of underlying conditions. Manifestations of eczema can include dryness and recurring skin rashes with redness, skin edema, itching and dryness, crusting, flaking, blistering, cracking, oozing, or bleeding." [HPO:curators] synonym: "Dermatitis" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000965 name: Cutis marmorata namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000966 name: Hypohidrosis namespace: medical_genetics synonym: "Decreased sweating" EXACT [] is_a: HP:0000971 ! Abnormality of the sweat glands [Term] id: HP:0000967 name: Petechiae namespace: medical_genetics is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000968 name: Ectodermal dysplasia namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000969 name: Edema namespace: medical_genetics def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body. Edema may be related to one or more of the following factors: 1) increased capillary hydrostatic pressure, 2) decreased osmotic pressure of plasma, 3) decreased tissue tension and lymphatic drainage, 4) increased osmotic pressure of tissue fluids, and 5) increased capillary permeability." [HPO:curators] is_a: HP:0000951 ! Skin abnormality is_a: HP:0003549 ! Abnormality of the soft tissues [Term] id: HP:0000970 name: Anhidrosis namespace: medical_genetics is_a: HP:0000971 ! Abnormality of the sweat glands [Term] id: HP:0000971 name: Abnormality of the sweat glands namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000972 name: Palmoplantar hyperkeratosis namespace: medical_genetics 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 [] is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0000973 name: Cutis laxa namespace: medical_genetics synonym: "Lax skin" EXACT [] synonym: "Loose skin" EXACT [] synonym: "Skin laxity" EXACT [] is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0000974 name: Hyperextensible skin namespace: medical_genetics synonym: "Skin hyperextensibility" EXACT [] synonym: "Stretchable skin" EXACT [] is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0000975 name: Hyperhidrosis namespace: medical_genetics synonym: "Sweating" EXACT [] is_a: HP:0000971 ! Abnormality of the sweat glands [Term] id: HP:0000976 name: Eczematoid dermatitis namespace: medical_genetics is_a: HP:0000964 ! Eczema [Term] id: HP:0000977 name: Soft skin namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000978 name: Ecchymoses namespace: medical_genetics alt_id: HP:0000959 synonym: "Bruisability" EXACT [] synonym: "Easy bruisability" EXACT [] synonym: "Easy bruising" EXACT [] is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000979 name: Purpura namespace: medical_genetics is_a: HP:0001933 ! Subcutaneous hemorrhage [Term] id: HP:0000980 name: Pallor namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000981 name: Discoid lupus in carriers or adults with mild disease namespace: medical_genetics subset: Secondary consequence is_a: HP:0007417 ! Discoid lupus erythematosus [Term] id: HP:0000982 name: Palmoplantar keratoderma namespace: medical_genetics synonym: "Palmar and plantar keratoderma" EXACT [] is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0000983 name: Dermatitis, infectious, due to immunodeficiency impetigo namespace: medical_genetics is_a: HP:0000964 ! Eczema [Term] id: HP:0000984 name: Fair skin namespace: medical_genetics is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0000986 name: Neonatal jaundice namespace: medical_genetics subset: Secondary consequence is_a: HP:0000952 ! Jaundice [Term] id: HP:0000987 name: Scarring namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000988 name: Skin rash namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000989 name: Pruritus namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000990 name: Hydrops namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000991 name: Xanthoma namespace: medical_genetics synonym: "Xanthomata" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000992 name: Photosensitivity namespace: medical_genetics synonym: "Cutaneous photosensitivity" EXACT [] synonym: "Skin photosensitivity" EXACT [] synonym: "Sun sensitivity" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000993 name: Molluscoid pseudotumors namespace: medical_genetics synonym: "Molluscoid pseudotumor" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0000995 name: Pigmented nevi namespace: medical_genetics def: "The presence of increased numbers of pigmented nevi, that is, of small, dark spots on the skin. Pigmented nevi are also known as melanocytic nevi or moles." [HPO:curators] synonym: "Melanocytic nevi" EXACT [] synonym: "Nevocellular nevi" EXACT [] synonym: "Pigmented naevi" EXACT [] is_a: HP:0001000 ! Abnormality of skin pigmentation is_a: HP:0003764 ! Abnormal or excess nevi [Term] id: HP:0000996 name: Facial capillary hemangioma namespace: medical_genetics is_a: HP:0001028 ! Hemangiomas [Term] id: HP:0000997 name: Axillary freckling namespace: medical_genetics is_a: HP:0001480 ! Freckling [Term] id: HP:0000998 name: Hypertrichosis namespace: medical_genetics def: "Hypertrichosis is increased hair growth that is abnormal in quantity or location." [HPO:curators] is_a: HP:0000951 ! Skin abnormality is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0000999 name: Pyoderma namespace: medical_genetics is_a: HP:0002727 ! Abnormal tendency to infections of the skin [Term] id: HP:0001000 name: Abnormality of skin pigmentation namespace: medical_genetics alt_id: HP:0007582 synonym: "Abnormal pigmentation" EXACT [] synonym: "Pigmentary changes" EXACT [] synonym: "Pigmentary skin changes" EXACT [] synonym: "Pigmentation" EXACT [] synonym: "Pigmentation anomaly" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001001 name: Abnormality of subcutaneous fat tissue namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001002 name: Decreased subcutaneous fat namespace: medical_genetics synonym: "Little subcutaneous fat" EXACT [] synonym: "Sparse subcutaneous fat" EXACT [] synonym: "Subcutaneous fat loss" EXACT [] is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0001003 name: Multiple lentigines namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001004 name: Lymphedema namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality is_a: HP:0003549 ! Abnormality of the soft tissues [Term] id: HP:0001005 name: Dermatological manifestations of systemic disorders namespace: medical_genetics subset: Secondary consequence is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001006 name: Hypotrichosis namespace: medical_genetics def: "Reduced or lacking hair growth." [HPO:curators] comment: A less than normal amount of hair on the head or body. is_a: HP:0002115 ! Sparse or absent hair [Term] id: HP:0001007 name: Hirsutism namespace: medical_genetics def: "Abnormally increased hair growth." [HPO:curators] is_a: HP:0000951 ! Skin abnormality is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0001008 name: Accumulation of melanosomes in melanocytes namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001009 name: Telangiectases namespace: medical_genetics def: "Telangiectases 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." [HPO:curators] synonym: "Cutaneous telangiectasia" EXACT [] synonym: "Telangiectasia" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001010 name: Hypopigmentation of the skin namespace: medical_genetics alt_id: HP:0007604 synonym: "Hypopigmentation" EXACT [] synonym: "Hypopigmented skin" EXACT [] synonym: "Skin hypopigmentation" RELATED [] is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001011 name: Diaphoresis (with pheochromocytoma) namespace: medical_genetics subset: Secondary consequence is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001012 name: Lipomas namespace: medical_genetics synonym: "Lipoma" EXACT [] is_a: HP:0008069 ! Dermatological tumors [Term] id: HP:0001013 name: Eruptive xanthomas namespace: medical_genetics is_a: HP:0001012 ! Lipomas [Term] id: HP:0001014 name: Angiokeratoma namespace: medical_genetics synonym: "Angiokeratomas" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001015 name: Prominent superficial veins namespace: medical_genetics is_a: HP:0002624 ! Venous abnormalities is_a: HP:0007394 ! Prominent superficial blood vessels [Term] id: HP:0001016 name: Excessive wrinkled skin (palms and soles) namespace: medical_genetics synonym: "Furrowed palms and soles" EXACT [] synonym: "Increased wrinkles of palms and soles" EXACT [] synonym: "Wrinkled palms and soles" EXACT [] synonym: "Wrinkled skin of hands and feet" EXACT [] is_a: HP:0000973 ! Cutis laxa [Term] id: HP:0001017 name: Anemic pallor namespace: medical_genetics is_a: HP:0000980 ! Pallor [Term] id: HP:0001018 name: Abnormal palmar dermatoglyphics namespace: medical_genetics synonym: "Abnormal dermatoglyphics" EXACT [] is_a: HP:0000951 ! Skin abnormality is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001019 name: Generalized erythroderma namespace: medical_genetics synonym: "Generalized erythrodermia" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001020 name: Soft, thin skin namespace: medical_genetics is_a: HP:0000963 ! Thin skin is_a: HP:0000977 ! Soft skin [Term] id: HP:0001021 name: Collodion baby namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001022 name: Albinism namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001024 name: Skin dimple over apex of long bone angulation namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001025 name: Urticaria namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001026 name: Penetrating foot ulcers namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001027 name: Soft, doughy skin namespace: medical_genetics is_a: HP:0000977 ! Soft skin [Term] id: HP:0001028 name: Hemangiomas namespace: medical_genetics synonym: "Hemangioma" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001029 name: Poikiloderma namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001030 name: Fragile skin namespace: medical_genetics synonym: "Skin fragility" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001031 name: Subcutaneous lipomas namespace: medical_genetics is_a: HP:0001012 ! Lipomas [Term] id: HP:0001032 name: Absent distal interphalangeal creases namespace: medical_genetics synonym: "Absence of skin creases over distal interphalangeal joints" EXACT [] synonym: "Distal finger flexion creases absent" EXACT [] is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0001033 name: Facial flushing after alcohol intake namespace: medical_genetics subset: Secondary consequence is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001034 name: Hyperpigmented macules namespace: medical_genetics synonym: "Hyperpigmented spots" EXACT [] is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0001035 name: Abnormality of keratinization namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001036 name: Parakeratosis namespace: medical_genetics comment: Persistence of the nuclei of keratinocytes as they rise into the stratum corneum of the epidermis. It is normal in the epithelium of the true mucous membrane of the mouth and vagina. is_a: HP:0001035 ! Abnormality of keratinization [Term] id: HP:0001037 name: Livedo reticularis namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001038 name: Warfarin-induced skin necrosis namespace: medical_genetics subset: Secondary consequence is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001039 name: Atheroeruptive xanthoma namespace: medical_genetics is_a: HP:0000991 ! Xanthoma [Term] id: HP:0001040 name: Multiple pterygia namespace: medical_genetics is_a: HP:0001059 ! Pterygia [Term] id: HP:0001041 name: Facial erythema namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001042 name: High axial triradius namespace: medical_genetics is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0001043 name: Prominent scalp veins namespace: medical_genetics is_a: HP:0001015 ! Prominent superficial veins [Term] id: HP:0001044 name: Congenital partial albinism (leucoderma) on face, trunk, or limbs namespace: medical_genetics synonym: "Congenital partial albinism on face, trunk, or limbs" EXACT [] is_a: HP:0001022 ! Albinism [Term] id: HP:0001045 name: Vitiligo namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001046 name: Intermittent jaundice namespace: medical_genetics subset: Secondary consequence is_a: HP:0000952 ! Jaundice [Term] id: HP:0001047 name: Atopic dermatitis namespace: medical_genetics is_a: HP:0000964 ! Eczema [Term] id: HP:0001048 name: Cavernous hemangioma namespace: medical_genetics is_a: HP:0001028 ! Hemangiomas [Term] id: HP:0001049 name: Absent dorsal skin creases over affected joints namespace: medical_genetics is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0001050 name: Plethora namespace: medical_genetics comment: Related to polycythemia. is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0001051 name: Seborrheic dermatitis namespace: medical_genetics def: "Seborrheic dermatitis is a form of eczema which is closely related to dandruff. It causes dry or greasy peeling of the scalp, eyebrows, and face, and sometimes trunk." [HPO:curators] comment: Dandruff. synonym: "Seborrhea" EXACT [] synonym: "Seborrheic eczema" EXACT [] is_a: HP:0000964 ! Eczema [Term] id: HP:0001052 name: Nevus flammeus namespace: medical_genetics is_a: HP:0003764 ! Abnormal or excess nevi [Term] id: HP:0001053 name: Hypopigmented skin patches namespace: medical_genetics is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0001054 name: Numerous nevi namespace: medical_genetics synonym: "Multiple pigmented nevi" EXACT [] is_a: HP:0003764 ! Abnormal or excess nevi [Term] id: HP:0001055 name: Erysipelas namespace: medical_genetics is_a: HP:0002727 ! Abnormal tendency to infections of the skin [Term] id: HP:0001056 name: Milia namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001057 name: Aplasia cutis congenita namespace: medical_genetics is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0001058 name: Poor wound healing namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001059 name: Pterygia namespace: medical_genetics def: "Pterygia are 'winglike' triangular membranes occurring in the neck, eyes, knees, elbows, ankles or digits." [HPO:curators] is_a: HP:0000951 ! Skin abnormality is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001060 name: Axillary pterygia namespace: medical_genetics is_a: HP:0001059 ! Pterygia [Term] id: HP:0001061 name: Acne namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001062 name: Atypical nevi (>5mm with irregular edge and pigmentation) namespace: medical_genetics is_a: HP:0003764 ! Abnormal or excess nevi [Term] id: HP:0001063 name: Acrocyanosis namespace: medical_genetics is_a: HP:0000961 ! Cyanosis [Term] id: HP:0001064 name: Diaphoresis namespace: medical_genetics alt_id: HP:0007424 def: "Abnormal excessive sweating." [HPO:curators] synonym: "Increased sweating" EXACT [] is_a: HP:0000971 ! Abnormality of the sweat glands [Term] id: HP:0001065 name: Striae distensae namespace: medical_genetics alt_id: HP:0001023 def: "Thinned, erythematous, depressed bands of atrophic skin. 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: "Striae" EXACT [] synonym: "Striae cutis distensae" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001066 name: Purplish striae namespace: medical_genetics is_a: HP:0001065 ! Striae distensae [Term] id: HP:0001067 name: Neurofibromas namespace: medical_genetics alt_id: HP:0007612 synonym: "Neurofibromata" EXACT [] is_a: HP:0008069 ! Dermatological tumors [Term] id: HP:0001068 name: Ruddy face and neck namespace: medical_genetics is_a: HP:0001041 ! Facial erythema [Term] id: HP:0001069 name: Hyperhidrosis, episodic namespace: medical_genetics is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0001070 name: Mottled pigmentation namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001071 name: Angiokeratoma corporis diffusum namespace: medical_genetics is_a: HP:0001014 ! Angiokeratoma [Term] id: HP:0001072 name: Thickened skin namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001073 name: Cigarette-paper scars namespace: medical_genetics synonym: "'cigarette paper scarring'" EXACT [] synonym: "Cigarette paper scarring" EXACT [] is_a: HP:0001075 ! Atrophic scars [Term] id: HP:0001074 name: Atypical nevi often present in non-sun exposed areas namespace: medical_genetics is_a: HP:0003764 ! Abnormal or excess nevi [Term] id: HP:0001075 name: Atrophic scars namespace: medical_genetics is_a: HP:0004334 ! Dermal atrophy [Term] id: HP:0001076 name: Glabellar hemangioma namespace: medical_genetics synonym: "Glabellar capillary hemangioma" EXACT [] is_a: HP:0001028 ! Hemangiomas [Term] id: HP:0001079 name: Telangiectases (especially on tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips) namespace: medical_genetics def: "Telangiectasia (small dilated blood vessels) located especially on the tongue, lips, palate, fingers, face, conjunctiva, trunk, nail beds, and fingertips." [HPO:curators] is_a: HP:0001009 ! Telangiectases [Term] id: HP:0001080 name: Biliary tract abnormality namespace: medical_genetics is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0001081 name: Cholelithiasis namespace: medical_genetics synonym: "Gallstones" EXACT [] is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0001082 name: Cholecystitis namespace: medical_genetics is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0001083 name: Ectopia lentis namespace: medical_genetics is_a: HP:0000665 ! Lens dislocation [Term] id: HP:0001084 name: Corneal arcus namespace: medical_genetics comment: A grey opaque line which surrounds the margin of the cornea caused by lipid deposits. synonym: "Arcus senilis" EXACT [] is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0001085 name: Papilledema namespace: medical_genetics is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001086 name: Leber optic atrophy features namespace: medical_genetics is_a: HP:0001112 ! Leber optic atrophy [Term] id: HP:0001087 name: Congenital glaucoma namespace: medical_genetics is_a: HP:0000501 ! Glaucoma [Term] id: HP:0001088 name: Brushfield spots namespace: medical_genetics synonym: "Iris brushfield spots" EXACT [] is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0001089 name: Iris atrophy namespace: medical_genetics is_a: HP:0000525 ! Abnormality of the iris [Term] id: HP:0001090 name: Large eyes namespace: medical_genetics is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0001091 name: Central visual loss namespace: medical_genetics is_a: HP:0001090 ! Large eyes [Term] id: HP:0001092 name: Absent lacrimal puncta namespace: medical_genetics synonym: "Absent lacrimal gland puncta" EXACT [] synonym: "Absent lacrimal openings" EXACT [] synonym: "Lacrimal puncta aplasia" EXACT [] is_a: HP:0000614 ! Lacrimal duct abnormalities [Term] id: HP:0001093 name: Optic nerve dysplasia namespace: medical_genetics is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001094 name: Iridocyclitis namespace: medical_genetics is_a: HP:0000620 ! Dacrocystitis [Term] id: HP:0001095 name: Hypertensive retinopathy namespace: medical_genetics subset: Secondary consequence is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001096 name: Keratoconjunctivitis namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea is_a: HP:0000502 ! Abnormality of the conjunctiva [Term] id: HP:0001097 name: Keratoconjunctivitis sicca namespace: medical_genetics is_a: HP:0001096 ! Keratoconjunctivitis [Term] id: HP:0001098 name: Abnormality of the fundus namespace: medical_genetics is_a: HP:0004329 ! Abnormality of the posterior segment of the eye [Term] id: HP:0001099 name: Fundus atrophy namespace: medical_genetics is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0001100 name: Heterochromia iridis namespace: medical_genetics synonym: "Heterochromia irides" EXACT [] is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0001101 name: Iritis namespace: medical_genetics is_a: HP:0000525 ! Abnormality of the iris [Term] id: HP:0001102 name: Angioid streaks namespace: medical_genetics synonym: "Angioid streaks of the retina" EXACT [] synonym: "Angioid streaks, retina" EXACT [] is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001103 name: Abnormality of the macula namespace: medical_genetics synonym: "Macular abnormality" EXACT [] is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001104 name: Macular hypoplasia namespace: medical_genetics is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula [Term] id: HP:0001105 name: Retinal atrophy namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001106 name: Periorbital hyperpigmentation namespace: medical_genetics is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0001107 name: Ocular albinism namespace: medical_genetics is_a: HP:0000525 ! Abnormality of the iris is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0001108 name: Bilateral cataracts namespace: medical_genetics alt_id: HP:0007679 synonym: "Cataracts, lenticular, bilateral" EXACT [] is_a: HP:0000518 ! Cataract [Term] id: HP:0001109 name: Globe retraction and deviation on adduction namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0001110 name: Progressive myopia namespace: medical_genetics is_a: HP:0000545 ! Myopia [Term] id: HP:0001111 name: Retinal depigmentation namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0001112 name: Leber optic atrophy namespace: medical_genetics comment: Degerenation of retinal ganglion cells and their axons. is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001113 name: Early cataracts namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0001114 name: Xanthelasma namespace: medical_genetics is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0001115 name: Posterior polar cataracts namespace: medical_genetics synonym: "Posterior polar cataract" EXACT [] is_a: HP:0000518 ! Cataract [Term] id: HP:0001116 name: Macular coloboma namespace: medical_genetics is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0001117 name: Sudden central visual loss namespace: medical_genetics is_a: HP:0001123 ! Visual field defects [Term] id: HP:0001118 name: Juvenile cataracts namespace: medical_genetics synonym: "Juvenile cataract" EXACT [] is_a: HP:0000518 ! Cataract [Term] id: HP:0001119 name: Keratoglobus namespace: medical_genetics is_a: HP:0001120 ! Abnormality of corneal size or shape [Term] id: HP:0001120 name: Abnormality of corneal size or shape namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0001121 name: Plagiocephaly (asymmetry of orbits) namespace: medical_genetics is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0001122 name: Aplasia/Hypoplasia of the choroid namespace: medical_genetics is_a: HP:0000610 ! Abnormality of the choroid is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus created_by: peter creation_date: 2008-04-02T03:23:00Z [Term] id: HP:0001123 name: Visual field defects namespace: medical_genetics is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0001124 name: Salt and pepper retinal pigmentation namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001125 name: Hemianopic blurring of vision namespace: medical_genetics alt_id: HP:0000583 comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. synonym: "Hemianoptic blurring of vision" EXACT [] is_a: HP:0000504 ! Abnormality of vision [Term] id: HP:0001126 name: Cryptophthalmos namespace: medical_genetics comment: Failure of eyelid formation. is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0001127 name: Progressive retinitis pigmentosa namespace: medical_genetics synonym: "Retinitis pigmentosa, progressive" EXACT [] is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0001128 name: Trichiasis namespace: medical_genetics comment: Eyelash inversion. is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0001129 name: Large central visual field defect namespace: medical_genetics is_a: HP:0001123 ! Visual field defects [Term] id: HP:0001130 name: Swollen optic disk at onset namespace: medical_genetics is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001131 name: Corneal dystrophy namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0001132 name: Lens subluxation namespace: medical_genetics is_a: HP:0000665 ! Lens dislocation [Term] id: HP:0001133 name: Constricted visual fields namespace: medical_genetics alt_id: HP:0007887 synonym: "Depressed visual field" EXACT [] synonym: "Reduced visual fields" EXACT [] synonym: "Visual field constriction" EXACT [] is_a: HP:0001123 ! Visual field defects [Term] id: HP:0001134 name: Anterior polar cataract namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0001135 name: Chorioretinal dystrophy namespace: medical_genetics is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0001136 name: Retinal arteriolar tortuosity namespace: medical_genetics synonym: "Tortuous retinal arterioles" EXACT [] is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0001137 name: Alternating esotropia namespace: medical_genetics is_a: HP:0000565 ! Esotropia [Term] id: HP:0001138 name: Optic neuropathy namespace: medical_genetics is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0001139 name: Choroideremia namespace: medical_genetics is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0001140 name: Epibulbar dermoids namespace: medical_genetics def: "An epibulbar dermoid is a benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid)." [HPO:curators] synonym: "Epibulbar dermoid" EXACT [] is_a: HP:0000481 ! Abnormality of the cornea is_a: HP:0000591 ! Abnormality of the sclera [Term] id: HP:0001141 name: Severe visual impairment namespace: medical_genetics alt_id: HP:0007842 alt_id: HP:0007951 synonym: "Marked vision impairment" EXACT [] synonym: "Severely impaired vision" EXACT [] is_a: HP:0000505 ! Impaired vision [Term] id: HP:0001142 name: Lenticonus namespace: medical_genetics comment: A conical projection of the anterior or posterior surface of the lens. is_a: HP:0000517 ! Abnormality of the lens [Term] id: HP:0001143 name: Small eyes namespace: medical_genetics is_a: HP:0000489 ! Abnormality of globe location or size is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye [Term] id: HP:0001144 name: Orbital cysts namespace: medical_genetics is_a: HP:0000315 ! Abnormality of the orbital region [Term] id: HP:0001145 name: Chorioretinopathy namespace: medical_genetics is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0001146 name: Pigmentary retinal degeneration namespace: medical_genetics synonym: "Retinal pigmentary degeneration" EXACT [] is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0001147 name: Retinal exudates namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0001148 name: Pale flat disk late namespace: medical_genetics is_a: HP:0000543 ! Pale optic disks [Term] id: HP:0001149 name: Lattice corneal dystrophy namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0001150 name: Choroidal sclerosis namespace: medical_genetics is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0001151 name: Impaired horizontal smooth pursuit namespace: medical_genetics synonym: "Impaired horizontal visual pursuit" EXACT [] is_a: HP:0000617 ! Impaired smooth pursuit [Term] id: HP:0001152 name: Saccadic smooth pursuit namespace: medical_genetics is_a: HP:0000617 ! Impaired smooth pursuit [Term] id: HP:0001153 name: Septate vagina namespace: medical_genetics is_a: HP:0000142 ! Abnormalities of the vagina [Term] id: HP:0001154 name: Rudimentary uterus namespace: medical_genetics is_a: HP:0000013 ! Hypoplastic uterus [Term] id: HP:0001155 name: Abnormality of the hand namespace: medical_genetics alt_id: HP:0005858 synonym: "Hand anomalies" EXACT [] synonym: "Hand deformities" EXACT [] is_a: HP:0002817 ! Abnormality of the upper limbs [Term] id: HP:0001156 name: Brachydactyly namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001157 name: Clinodactyly namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001158 name: Fifth finger clinodactyly namespace: medical_genetics synonym: "Bilateral fifth digit clinodactyly" EXACT [] synonym: "Bilateral fifth finger clinodactyly" EXACT [] synonym: "Clinodactyly of fifth digit" EXACT [] is_a: HP:0001157 ! Clinodactyly [Term] id: HP:0001159 name: Syndactyly namespace: medical_genetics alt_id: HP:0001206 def: "Webbing or fusion of the fingers or toes, involving soft parts only or including bone structure." [HPO:curators] synonym: "Symphalangism" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001161 name: Polydactyly namespace: medical_genetics synonym: "Preaxial or postaxial polydactyly" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers is_a: HP:0009142 ! Duplication of bones involving the upper extremities is_a: HP:0009143 ! Duplication of finger bones [Term] id: HP:0001162 name: Postaxial polydactyly namespace: medical_genetics alt_id: HP:0005763 def: "Supernumerary digits located at the ulnar side of the hand." [HPO:curators] synonym: "Polydactyly, postaxial" EXACT [] synonym: "Postaxial polydactyly of hand" EXACT [] synonym: "Postaxial polydactyly of hands" EXACT [] is_a: HP:0001161 ! Polydactyly [Term] id: HP:0001163 name: Abnormality of the metacarpal bones namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001165 name: Small hands namespace: medical_genetics synonym: "Short hands" EXACT [] is_a: HP:0004279 ! Hypoplastic hand [Term] id: HP:0001166 name: Arachnodactyly namespace: medical_genetics alt_id: HP:0001505 def: "Abnormally long and slender fingers (\"spider fingers\")." [HPO:curators] synonym: "Long slender fingers" EXACT [] synonym: "Long, slender fingers" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers is_a: HP:0001238 ! Slender fingers [Term] id: HP:0001167 name: Abnormality of the fingers namespace: medical_genetics alt_id: HP:0003035 comment: Abnormality of hands, feet, or both. synonym: "Abnormalities of the fingers" EXACT [] synonym: "Abnormality of the digits" EXACT [] synonym: "Digital anomalies" EXACT [] is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001169 name: Broad hands namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001171 name: Ectrodactyly namespace: medical_genetics alt_id: HP:0001247 synonym: "Claw hand" EXACT [] synonym: "Claw hand deformities" EXACT [] synonym: "Claw hands" EXACT [] synonym: "Claw-hand deformities" EXACT [] is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001172 name: Abnormality of the 1st finger namespace: medical_genetics synonym: "Abnormality of the thumbs" EXACT [] synonym: "Thumb deformity" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001174 name: Short broad hands namespace: medical_genetics synonym: "Short, broad hands" EXACT [] is_a: HP:0001165 ! Small hands is_a: HP:0001169 ! Broad hands [Term] id: HP:0001175 name: Cone-shaped epiphyses (hand) namespace: medical_genetics alt_id: HP:0003766 synonym: "Coned epiphyses" EXACT [] is_a: HP:0000937 ! Cone-shaped epiphyses is_a: HP:0005924 ! Abnormalities of the epiphyses of the hand [Term] id: HP:0001176 name: Large hands namespace: medical_genetics alt_id: HP:0006044 alt_id: HP:0006219 synonym: "Disproportionately large hands" EXACT [] synonym: "Relatively large hands" EXACT [] is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001177 name: Preaxial polydactyly namespace: medical_genetics alt_id: HP:0005629 alt_id: HP:0006182 def: "Supernumerary digits located at the radial side of the hand." [HPO:curators] synonym: "Polydactyly, preaxial" EXACT [] is_a: HP:0001161 ! Polydactyly [Term] id: HP:0001178 name: Claw hand deformities (in severe cases) namespace: medical_genetics is_a: HP:0001171 ! Ectrodactyly [Term] id: HP:0001180 name: Oligodactyly namespace: medical_genetics is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers [Term] id: HP:0001181 name: Adducted thumbs namespace: medical_genetics is_a: HP:0001172 ! Abnormality of the 1st finger [Term] id: HP:0001182 name: Tapered fingers namespace: medical_genetics alt_id: HP:0005800 alt_id: HP:0007532 synonym: "Distally tapering fingers" EXACT [] synonym: "Tapered fingertips" EXACT [] synonym: "Tapering fingers" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001187 name: Hyperextensible fingers namespace: medical_genetics synonym: "Hyperextensible digits" EXACT [] synonym: "Hyperextensible finger" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001188 name: Clenched hands namespace: medical_genetics is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0001189 name: Mild brachydactyly namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0001190 name: Short first metacarpal namespace: medical_genetics synonym: "Short first metacarpals" EXACT [] is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0001191 name: Abnormality of the carpal bones namespace: medical_genetics synonym: "Abnormal carpal bones" EXACT [] synonym: "Anomalous carpal bones" EXACT [] synonym: "Carpal bone anomalies" EXACT [] is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001193 name: Ulnar deviation of the hand or of fingers of the hand namespace: medical_genetics synonym: "Ulnar deviation of hands" EXACT [] synonym: "Ulnar deviation of the hands" EXACT [] is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand [Term] id: HP:0001194 name: Abnormalities of placenta and umbilical cord namespace: medical_genetics is_a: HP:0001197 ! Prenatal manifestations and birth abnormalities [Term] id: HP:0001195 name: Single umbilical artery namespace: medical_genetics is_a: HP:0001194 ! Abnormalities of placenta and umbilical cord [Term] id: HP:0001196 name: Short umbilical cord namespace: medical_genetics is_a: HP:0001194 ! Abnormalities of placenta and umbilical cord [Term] id: HP:0001197 name: Prenatal manifestations and birth abnormalities namespace: medical_genetics is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0001198 name: Short distal phalanges namespace: medical_genetics alt_id: HP:0001229 synonym: "SHORT TERMINAL PHALANGES" EXACT [] is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand [Term] id: HP:0001199 name: Triphalangeal thumb namespace: medical_genetics alt_id: HP:0009610 def: "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. The thumb normally consists of the first metacarpal and a proximal and distal phalanx. All other digits have an additional middle phalanx. This term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb." [HPO:curators] synonym: "Triphalangeal thumbs" EXACT [] synonym: "Triphalangy of thumb" EXACT [] is_a: HP:0009604 ! Polydactyly affecting the 1st finger is_a: HP:0009619 ! Accessory phalanx of the 1st finger [Term] id: HP:0001201 name: Severe brachydactyly namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0001202 name: Hypoplastic distal phalanges namespace: medical_genetics synonym: "Distal phalangeal hypoplasia" EXACT [] synonym: "Hypoplasia of the distal phalanges" EXACT [] synonym: "Hypoplasic terminal phalanges" EXACT [] synonym: "Hypoplastic terminal phalanges" EXACT [] synonym: "Terminal phalangeal hypoplasia of hand" EXACT [] is_a: HP:0005635 ! Aplasia/Hypoplasia of the distal phalanges [Term] id: HP:0001204 name: Distal symphalangism namespace: medical_genetics synonym: "Terminal symphalangism" EXACT [] is_a: HP:0001159 ! Syndactyly [Term] id: HP:0001207 name: Phalangeal cone-shaped epiphyses namespace: medical_genetics is_a: HP:0001204 ! Distal symphalangism [Term] id: HP:0001208 name: Short middle phalanges namespace: medical_genetics synonym: "Hypoplastic middle phalanges" EXACT [] synonym: "Hypoplastic middle phalanx" EXACT [] synonym: "Midphalangeal hypoplasia" EXACT [] is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand [Term] id: HP:0001209 name: Small carpal bones namespace: medical_genetics synonym: "Small carpals" EXACT [] is_a: HP:0001498 ! Carpal bone hypoplasia [Term] id: HP:0001210 name: Sclerotic ivory phalangeal epiphyses namespace: medical_genetics is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand [Term] id: HP:0001211 name: Abnormality of the fingertips namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001212 name: Prominent fingertip pads namespace: medical_genetics alt_id: HP:0001235 def: "A soft tissue prominence of the ventral aspects of the fingertips. The term \"persistent fetal fingertip pads\" is often used as a synonym, but should better not be used because it implies knowledge of history of the patient which often does not exist." [HPO:curators] synonym: "Persistence of fingerpads" EXACT [] synonym: "Persistent fetal fingertip pads" EXACT [] synonym: "Prominent finger pads" EXACT [] is_a: HP:0001211 ! Abnormality of the fingertips [Term] id: HP:0001213 name: Clinodactyly of isolated digits namespace: medical_genetics is_a: HP:0001157 ! Clinodactyly [Term] id: HP:0001215 name: Camptodactyly (2nd-5th fingers) namespace: medical_genetics is_a: HP:0009472 ! Joint contractures of the fingers [Term] id: HP:0001216 name: Delayed maturation/delayed ossification of carpal bones namespace: medical_genetics synonym: "Carpal delayed ossification" EXACT [] synonym: "Delayed carpal bone age" EXACT [] synonym: "Delayed carpal ossification" EXACT [] is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0001217 name: Clubbing namespace: medical_genetics alt_id: HP:0003036 def: "Non-edematous swelling/broadening of the soft tissue of the fingertips in all dimensions." [HPO:curators] synonym: "Clubbing of fingers" EXACT [] synonym: "Digital clubbing" EXACT [] synonym: "Finger clubbing" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers is_a: HP:0001211 ! Abnormality of the fingertips [Term] id: HP:0001218 name: Autoamputation namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001220 name: Interphalangeal joint contractures namespace: medical_genetics synonym: "Interphalangeal joint flexion contractures" EXACT [] is_a: HP:0009472 ! Joint contractures of the fingers [Term] id: HP:0001221 name: Short, thick distal phalanges namespace: medical_genetics is_a: HP:0001198 ! Short distal phalanges [Term] id: HP:0001222 name: Spatulate thumbs namespace: medical_genetics def: "Spoon-shaped, broad thumbs." [HPO:curators] is_a: HP:0009651 ! Broad phalanges of the 1st finger [Term] id: HP:0001223 name: Pointed proximal second through fifth metacarpals namespace: medical_genetics def: "All of the metacarpal bones of the hand have a pointed proximal appearance." [HPO:curators] is_a: HP:0006119 ! Pointed proximal metacarpals [Term] id: HP:0001225 name: Wrist swelling namespace: medical_genetics is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0001226 name: Acral ulceration and osteomyelitis leading to autoamputation of the digits namespace: medical_genetics is_a: HP:0001218 ! Autoamputation [Term] id: HP:0001227 name: Abnormality of the thenar eminence namespace: medical_genetics synonym: "Thenar abnormality" EXACT [] is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001228 name: Bifid terminal phalanges namespace: medical_genetics is_a: HP:0005919 ! Abnormal terminal phalanges of the hand [Term] id: HP:0001230 name: Broad metacarpals namespace: medical_genetics is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0001231 name: Abnormalities of the fingernails namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001232 name: Nail bed telangiectases namespace: medical_genetics is_a: HP:0001231 ! Abnormalities of the fingernails [Term] id: HP:0001233 name: 2-3 finger syndactyly namespace: medical_genetics alt_id: HP:0006039 alt_id: HP:0006122 synonym: "Syndactyly 2nd-3rd fingers" EXACT [] synonym: "Syndactyly, 2-3 finger" EXACT [] is_a: HP:0001159 ! Syndactyly [Term] id: HP:0001234 name: Hitchhiker thumb namespace: medical_genetics def: "The condition known as \"hitchhiker's thumb\" means, that the distal phalanx of the thumb, when the thumb is extended (as in a \"thumbs-up\"), can extend backwards toward the nail and outwards at an angle of up to, or more than, 90 degrees from the thumb, whereas normally it will extend straight out with little backward bending." [HPO:curators] is_a: HP:0001187 ! Hyperextensible fingers is_a: HP:0009617 ! Abnormality of the distal phalanx of the 1st finger [Term] id: HP:0001236 name: Mild syndactyly namespace: medical_genetics is_a: HP:0001159 ! Syndactyly [Term] id: HP:0001238 name: Slender fingers namespace: medical_genetics def: "Digits are disproportionaly narrow (reduced girth)." [HPO:curators] synonym: "narrow fingers" EXACT [] synonym: "thin fingers" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001239 name: Wrist contractures namespace: medical_genetics synonym: "Wrist contracture" EXACT [] is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0001240 name: Short, broad thumbs namespace: medical_genetics is_a: HP:0009651 ! Broad phalanges of the 1st finger is_a: HP:0009778 ! Hypoplastic/small 1st finger [Term] id: HP:0001241 name: Capitate-hamate fusion namespace: medical_genetics synonym: "Capitate-hamate fusions" EXACT [] synonym: "Fusion of capitate and hamate" EXACT [] is_a: HP:0004259 ! Abnormality of the hamate bone is_a: HP:0004262 ! Abnormality of the capitate bone is_a: HP:0009702 ! Synostosis involving the carpal bones [Term] id: HP:0001242 name: Cone-shaped phalangeal epiphyses namespace: medical_genetics synonym: "Cone-shaped epiphyses of phalanges" EXACT [] synonym: "Conical phalangeal epiphyses" EXACT [] is_a: HP:0001175 ! Cone-shaped epiphyses (hand) is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand [Term] id: HP:0001244 name: Bifid thumb namespace: medical_genetics alt_id: HP:0004070 synonym: "Notching of thumb phalanges" EXACT [] is_a: HP:0009604 ! Polydactyly affecting the 1st finger [Term] id: HP:0001245 name: Thenar hypoplasia namespace: medical_genetics alt_id: HP:0006188 synonym: "Hypoplastic thenar eminences" EXACT [] synonym: "Thenar muscle hypoplasia" EXACT [] is_a: HP:0001227 ! Abnormality of the thenar eminence [Term] id: HP:0001246 name: Broad phalanges namespace: medical_genetics is_a: HP:0001500 ! Broad fingers [Term] id: HP:0001248 name: Short tubular bones (hand) namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0001249 name: Mental retardation namespace: medical_genetics synonym: "Mental retardation has been reported" EXACT [] synonym: "Mental retardation," EXACT [] synonym: "Mental retardation." EXACT [] synonym: "Mental-retardation" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001250 name: Seizures namespace: medical_genetics synonym: "Seizure" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001251 name: Ataxia namespace: medical_genetics def: "Ataxia is a nonspecific neurological sign and symptom consisting of gross lack of coordination of muscle movements. Ataxia is caused by dysfunction of one or more parts of the nervous system including the cerebellum, the sensory nervous system, the vestibular system, or the cerebral cortex." [HPO:curators] is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0001252 name: Muscular hypotonia namespace: medical_genetics alt_id: HP:0001318 def: "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] synonym: "Hypotonia" EXACT [] is_a: HP:0000707 ! Neurological abnormality is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0001253 name: Cerebellar ataxia namespace: medical_genetics def: "Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly)." [HPO:curators] is_a: HP:0001251 ! Ataxia is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0001254 name: Lethargy namespace: medical_genetics is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001255 name: Psychomotor retardation namespace: medical_genetics synonym: "Delayed 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 developmental delay" EXACT [] is_a: HP:0001270 ! Motor retardation [Term] id: HP:0001256 name: Mental retardation, mild namespace: medical_genetics def: "Mild mental retardation is defined as an intelligence quotient (IQ) in the range of 50-69." [HPO:curators] synonym: "Developmental delay, mild" EXACT [] synonym: "Mild developmental delay" EXACT [] synonym: "Mild mental retardation" EXACT [] synonym: "Mild psychomotor retardation" EXACT [] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0001257 name: Spasticity namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001258 name: Spastic paraplegia namespace: medical_genetics is_a: HP:0001257 ! Spasticity [Term] id: HP:0001259 name: Coma namespace: medical_genetics is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001260 name: Dysarthria namespace: medical_genetics alt_id: HP:0002327 def: "Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed." [HPO:curators] synonym: "Dysarthric speech" EXACT [] is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0001261 name: Mental retardation, severe namespace: medical_genetics alt_id: HP:0007243 def: "Severe mental retardation is defined as an intelligence quotient in the range of 20-34." [HPO:curators] synonym: "Mental retardation, severe, profound" EXACT [] synonym: "Psychomotor delay, severe" EXACT [] synonym: "Severe developmental delay" EXACT [] synonym: "Severe developmental retardation" EXACT [] synonym: "Severe mental retardation" EXACT [] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0001262 name: Somnolence namespace: medical_genetics is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001263 name: Developmental retardation namespace: medical_genetics synonym: "Delayed development" EXACT [] synonym: "Delayed intellectual development" EXACT [] synonym: "Developmental delay, severe" EXACT [] synonym: "Neurodevelopmental impairment" EXACT [] synonym: "Retarded development" EXACT [] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0001264 name: Spastic diplegia namespace: medical_genetics is_a: HP:0001257 ! Spasticity [Term] id: HP:0001265 name: Hyporeflexia namespace: medical_genetics is_a: HP:0001315 ! Reduced reflexes [Term] id: HP:0001266 name: Choreoathetosis namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001267 name: Mental deficiency namespace: medical_genetics is_a: HP:0001249 ! Mental retardation [Term] id: HP:0001268 name: Mental deterioration namespace: medical_genetics synonym: "Intellectual deterioration" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001269 name: Hemiparesis namespace: medical_genetics is_a: HP:0004374 ! Hemiplegia or hemiparesis [Term] id: HP:0001270 name: Motor retardation namespace: medical_genetics synonym: "Delay in motor development" EXACT [] synonym: "Delayed motor development" EXACT [] synonym: "Motor delay" EXACT [] synonym: "Motor developmental delay" EXACT [] synonym: "Retarded motor development" EXACT [] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0001271 name: Polyneuropathy namespace: medical_genetics def: "A generalized disorder of peripheral nerves." [HPO:curators] is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001272 name: Cerebellar atrophy namespace: medical_genetics synonym: "Cerebellar atrophy on mri" EXACT [] synonym: "Mri shows cerebellar atrophy" EXACT [] is_a: HP:0007368 ! Atrophy/Degeneration affecting the cerebellum [Term] id: HP:0001273 name: Abnormality of the corpus callosum namespace: medical_genetics synonym: "Abnormal corpus callosum" EXACT [] synonym: "Corpus callosum abnormality" EXACT [] is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0001274 name: Agenesis of corpus callosum namespace: medical_genetics def: "Absence of the corpus callosum." [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 [] is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0001275 name: Epilepsy namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0001276 name: Hypertonia namespace: medical_genetics synonym: "Increased muscle tone" EXACT [] is_a: HP:0001257 ! Spasticity [Term] id: HP:0001277 name: Severe psychomotor retardation namespace: medical_genetics synonym: "Delayed development, severe" EXACT [] synonym: "Delayed psychomotor development, severe" EXACT [] synonym: "Marked psychomotor retardation" EXACT [] synonym: "Profound psychomotor retardation" EXACT [] synonym: "Psychomotor development failure" EXACT [] synonym: "Psychomotor retardation, severe" EXACT [] synonym: "Severe psychomotor delay" EXACT [] is_a: HP:0001255 ! Psychomotor retardation [Term] id: HP:0001278 name: Orthostatic hypotension namespace: medical_genetics alt_id: HP:0006700 def: "A form of hypotension characterized by a sudden fall in blood pressure that occurs when a person assumes a standing position." [HPO:curators] synonym: "Postural hypotension" EXACT [] is_a: HP:0000707 ! Neurological abnormality is_a: HP:0002615 ! Hypotension [Term] id: HP:0001279 name: Syncope namespace: medical_genetics is_a: HP:0001626 ! Cardiovascular abnormality created_by: peter creation_date: 2008-02-25T10:37:00Z [Term] id: HP:0001281 name: Tetany namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0001283 name: Bulbar palsy namespace: medical_genetics alt_id: HP:0003441 alt_id: HP:0003709 def: "Bulbar weakness (or bulbar palsy) refers to bilateral impairment of function of the lower cranial nerves IX, X, XI and XII, which occurs due to lower motor neuron lesion either at nuclear or fascicular level in the medulla or from bilateral lesions of the lower cranial nerves outside the brain-stem. Bulbar weakness is often associated with difficulty in chewing, weakness of the facial muscles, dysarthria, palatal weakness and regurgitation of fluids, dysphagia, and dysphonia." [HPO:curators] synonym: "Bulbar muscle weakness" EXACT [] synonym: "Bulbar palsies" EXACT [] synonym: "Bulbar weakness" EXACT [] is_a: HP:0001324 ! Muscle weakness is_a: HP:0002363 ! Abnormality of the brainstem [Term] id: HP:0001284 name: Areflexia namespace: medical_genetics is_a: HP:0001315 ! Reduced reflexes [Term] id: HP:0001285 name: Spastic tetraparesis namespace: medical_genetics alt_id: HP:0002393 def: "Spastic weakness affecting all four limbs." [HPO:curators] synonym: "Spastic quadriparesis" EXACT [] is_a: HP:0001257 ! Spasticity [Term] id: HP:0001286 name: Low intelligence namespace: medical_genetics synonym: "Dull intelligence" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001287 name: Meningitis namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001288 name: Gait disturbance namespace: medical_genetics def: "The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease." [HPO:curators] comment: If possible, this term should not be used for new annotations. Rather, a more specific term should be sought. synonym: "Abnormal gait" EXACT [] synonym: "Gait abnormalities" EXACT [] synonym: "Gait difficulties" EXACT [] synonym: "Gait disturbances" EXACT [] synonym: "Impaired gait" EXACT [] is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0001289 name: Confusion namespace: medical_genetics alt_id: HP:0000731 def: "Lack of clarity and coherence of thought, perception, understanding, or action." [HPO:curators] synonym: "Disorientation" EXACT [] is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0001290 name: Generalized hypotonia namespace: medical_genetics def: "Generalized muscular hypotonia (abnormally low muscle tone)." [HPO:curators] synonym: "Generalized muscular hypotonia" EXACT [] synonym: "Hypotonia, generalized" EXACT [] is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0001291 name: Abnormality of the cranial nerves namespace: medical_genetics def: "Abnormality affecting one or more of the cranial nerves, which emerge directly from the brain stem." [HPO:curators.] synonym: "Cranial nerve abnormality" RELATED [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001292 name: Retarded psychomotor development namespace: medical_genetics synonym: "Retarded mental development" EXACT [] is_a: HP:0000754 ! Developmental delay [Term] id: HP:0001293 name: Cranial nerve compression namespace: medical_genetics is_a: HP:0001291 ! Abnormality of the cranial nerves [Term] id: HP:0001294 name: Involuntary movements namespace: medical_genetics synonym: "Abnormal involuntary movements" EXACT [] is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0001295 name: Involuntary rhythmic myoclonic movements ('tremor') of the distal extremities, usually fingers namespace: medical_genetics is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0001296 name: Mood alterations namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0001297 name: Stroke namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001298 name: Encephalopathy namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001300 name: Parkinsonism namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0001301 name: Chronic sensorineural polyneuropathy namespace: medical_genetics is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0001302 name: Pachygyria namespace: medical_genetics def: "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] synonym: "Cerebral pachygyria" EXACT [] is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0001303 name: Intractable seizures namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0001304 name: Torsion dystonia namespace: medical_genetics is_a: HP:0001332 ! Dystonia [Term] id: HP:0001305 name: Dandy-Walker malformation namespace: medical_genetics synonym: "Dandy-walker anomaly" EXACT [] is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0001306 name: Generalized tonic-clonic seizures (GTCS), infrequent namespace: medical_genetics is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0001307 name: Locomotor delay namespace: medical_genetics is_a: HP:0001270 ! Motor retardation [Term] id: HP:0001308 name: Tongue fasciculations namespace: medical_genetics is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0001309 name: Movements ('tremors') characterized by 8 to 10-Hz discharges namespace: medical_genetics is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0001310 name: Dysmetria namespace: medical_genetics is_a: HP:0001251 ! Ataxia [Term] id: HP:0001311 name: Neurophysiological abnormality namespace: medical_genetics alt_id: HP:0002531 synonym: "Neurophysiologic abnormalities" EXACT [] synonym: "Neurophysiologic abnormalities (EEG, VEP, SEP)" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001312 name: Giant somatosensory evoked potentials (SEPS) namespace: medical_genetics synonym: "Giant somatosensory evoked potentials" EXACT [] is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0001313 name: Dandy-Walker cyst namespace: medical_genetics is_a: HP:0001312 ! Giant somatosensory evoked potentials (SEPS) [Term] id: HP:0001314 name: Absent deep tendon reflexes namespace: medical_genetics synonym: "Absent tendon reflexes" EXACT [] synonym: "Deep tendon reflexes absent" EXACT [] synonym: "Loss of deep tendon reflexes" EXACT [] is_a: HP:0001284 ! Areflexia [Term] id: HP:0001315 name: Reduced reflexes namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0001316 name: Weak or absent deep tendon reflexes namespace: medical_genetics 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: "Reduced/absent deep tendon reflexes" EXACT [] is_a: HP:0001315 ! Reduced reflexes [Term] id: HP:0001317 name: Abnormality of the cerebellum namespace: medical_genetics synonym: "Cerebellar abnormalities" EXACT [] synonym: "Cerebellar abnormality" EXACT [] synonym: "Cerebellar anomaly" EXACT [] synonym: "Cerebellar signs" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001319 name: Neonatal hypotonia namespace: medical_genetics def: "Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period." [HPO:curators] synonym: "Hypotonia, neonatal" EXACT [] is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0001320 name: Cerebellar vermis hypoplasia namespace: medical_genetics synonym: "Cerebellar vermal hypoplasia" EXACT [] synonym: "Hypoplasia of the cerebellar vermis" EXACT [] synonym: "Hypoplastic cerebellar vermis " EXACT [] is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0001321 name: Cerebellar hypoplasia namespace: medical_genetics alt_id: HP:0006806 alt_id: HP:0006910 synonym: "Hypoplasia of cerebellum" EXACT [] synonym: "Hypoplastic cerebellum" EXACT [] synonym: "Mri shows cerebellar hypoplasia" EXACT [] is_a: HP:0007360 ! Aplasia/Hypoplasia of the cerebellum [Term] id: HP:0001322 name: Brain very small namespace: medical_genetics is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0006872 ! Cerebral hypoplasia [Term] id: HP:0001324 name: Muscle weakness namespace: medical_genetics def: "Reduced strength of muscles." [HPO:curators] synonym: "Muscular weakness" EXACT [] is_a: HP:0000707 ! Neurological abnormality is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0001325 name: Hypoglycemic coma namespace: medical_genetics synonym: "Coma, hypoglycemic" EXACT [] synonym: "Loss of consciousness due to hypoglycemia" EXACT [] is_a: HP:0001259 ! Coma [Term] id: HP:0001326 name: EEG shows generalized and focal spike and wave complexes namespace: medical_genetics is_a: HP:0002353 ! EEG abnormalities [Term] id: HP:0001327 name: Photomyoclonic seizures namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0001328 name: Learning disability namespace: medical_genetics synonym: "Learning difficulties" EXACT [] synonym: "Learning disabilities" EXACT [] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0001329 name: Progressive ataxia namespace: medical_genetics is_a: HP:0001251 ! Ataxia [Term] id: HP:0001330 name: Photoparoxysmal response on EEG namespace: medical_genetics is_a: HP:0001311 ! Neurophysiological abnormality [Term] id: HP:0001331 name: Absent septum pellucidum namespace: medical_genetics synonym: "Absence of septum pellucidum" EXACT [] synonym: "Agenesis of the septum pellucidum" EXACT [] is_a: HP:0007375 ! Abnormality of the septum pellucidum [Term] id: HP:0001332 name: Dystonia namespace: medical_genetics alt_id: HP:0002328 def: "An abnormally increased muscular tone that causes fixed abnormal postures." [HPO:curators] synonym: "Dystonic movements" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001333 name: Sensory defect namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0001334 name: Communicating hydrocephalus namespace: medical_genetics is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0001335 name: Mirror hand movements (bimanual synkinesia) namespace: medical_genetics synonym: "Hand mirror movements" EXACT [] synonym: "Mirror hand movements" EXACT [] synonym: "Mirror movements" EXACT [] is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0001336 name: Myoclonus namespace: medical_genetics alt_id: HP:0002535 def: "Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements." [HPO:curators] synonym: "Myoclonic jerks" EXACT [] is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0001337 name: Tremor namespace: medical_genetics def: "An unintentional, oscillating to-and-fro muscle movement." [HPO:curators] is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0001338 name: Partial agenesis of the corpus callosum namespace: medical_genetics synonym: "Corpus callosum agenesis, partial" EXACT [] synonym: "Partial agenesis of corpus callosum" EXACT [] synonym: "Partial corpus callosum agenesis" EXACT [] is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0001339 name: Lissencephaly namespace: medical_genetics alt_id: HP:0002537 def: "A congenital absence of the convolutions of the cerebral cortex and a poorly formed sylvian fissure." [HPO:curators] synonym: "Agyria" EXACT [] is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0001340 name: Enhancement of the C-reflex namespace: medical_genetics is_a: HP:0001311 ! Neurophysiological abnormality [Term] id: HP:0001341 name: Olfactory lobe agenesis namespace: medical_genetics synonym: "Olfactory lobe absence" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001342 name: Cerebral hemorrhage namespace: medical_genetics alt_id: HP:0002137 def: "A cerebral hemorrhage (or intracerebral hemorrhage, ICH), is a type of intracranial hemorrhage that occurs within the brain tissue itself." [HPO:curators] synonym: "Intracerebral hemorrhage" EXACT [] is_a: HP:0002170 ! Intracranial hemorrhage [Term] id: HP:0001343 name: Kernicterus namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001344 name: Absent speech development namespace: medical_genetics synonym: "No speech development" EXACT [] synonym: "No speech or language development" EXACT [] is_a: HP:0002116 ! Deficiency of speech development [Term] id: HP:0001345 name: Psychotic mentation namespace: medical_genetics is_a: HP:0000709 ! Psychosis [Term] id: HP:0001346 name: Electrophysiologic studies indicate cortical origin namespace: medical_genetics is_a: HP:0001311 ! Neurophysiological abnormality [Term] id: HP:0001347 name: Hyperreflexia namespace: medical_genetics alt_id: HP:0001282 def: "The presence of overactive or overresponsive reflexes." [HPO:curators] synonym: "Increased deep tendon reflexes" EXACT [] synonym: "Increased reflexes" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001348 name: Brisk reflexes namespace: medical_genetics is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0001349 name: Facial diplegia namespace: medical_genetics alt_id: HP:0007085 synonym: "Bilateral facial weakness" EXACT [] is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0002517 ! Facial palsy [Term] id: HP:0001350 name: Slurred speech namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0001351 name: Jerk-locked premyoclonus spikes namespace: medical_genetics is_a: HP:0001311 ! Neurophysiological abnormality [Term] id: HP:0001353 name: Cranial nerve palsies namespace: medical_genetics synonym: "Cranial nerve palsy" EXACT [] synonym: "Cranial nerve paresis" EXACT [] is_a: HP:0001291 ! Abnormality of the cranial nerves [Term] id: HP:0001354 name: Headaches at onset namespace: medical_genetics synonym: "Headaches at onset." EXACT [] is_a: HP:0002315 ! Headache [Term] id: HP:0001355 name: Megalencephaly namespace: medical_genetics is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0001356 name: Dolichoturricephaly namespace: medical_genetics is_a: HP:0000262 ! Turricephaly is_a: HP:0000268 ! Dolichocephaly [Term] id: HP:0001357 name: Plagiocephaly namespace: medical_genetics def: "An asymmetric head shape often resulting from premature closure of only one of the coronal sutures." [HPO:curators] is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0001358 name: Bulging forehead namespace: medical_genetics is_a: HP:0000254 ! Frontal bossing [Term] id: HP:0001359 name: Mild frontal bossing namespace: medical_genetics is_a: HP:0000254 ! Frontal bossing [Term] id: HP:0001360 name: Holoprosencephaly namespace: medical_genetics is_a: HP:0000234 ! Head abnormality is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0001361 name: Head nodding namespace: medical_genetics is_a: HP:0000234 ! Head abnormality [Term] id: HP:0001362 name: Skull defect namespace: medical_genetics is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0001363 name: Craniosynostosis namespace: medical_genetics synonym: "Craniosyostosis" EXACT [] is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0001365 name: Craniostenosis namespace: medical_genetics comment: Skull deformity caused by the premature closure of the cranial sutures. is_a: HP:0001363 ! Craniosynostosis [Term] id: HP:0001366 name: Microcephaly, mild namespace: medical_genetics is_a: HP:0000252 ! Microcephaly [Term] id: HP:0001367 name: Abnormality of the joints namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0001368 name: Gouty arthritis namespace: medical_genetics is_a: HP:0001369 ! Arthritis [Term] id: HP:0001369 name: Arthritis namespace: medical_genetics is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001370 name: Rheumatoid arthritis namespace: medical_genetics is_a: HP:0001369 ! Arthritis [Term] id: HP:0001371 name: Contractures namespace: medical_genetics synonym: "Flexion contracture" EXACT [] synonym: "Flexion contractures" EXACT [] synonym: "Flexion contractures of joints" EXACT [] is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001372 name: Joint contractures namespace: medical_genetics synonym: "Joint contracture" EXACT [] is_a: HP:0001371 ! Contractures [Term] id: HP:0001373 name: Dislocations namespace: medical_genetics is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001374 name: Congenital hip dislocation namespace: medical_genetics synonym: "Congenital dislocation of the hip" EXACT [] synonym: "Congenital dislocation of the hips" EXACT [] synonym: "Congenital hip anomaly" EXACT [] synonym: "Congenital hip dislocations" EXACT [] is_a: HP:0002827 ! Dislocated hips [Term] id: HP:0001376 name: Decreased mobility of joints namespace: medical_genetics synonym: "Decreased joint mobility" EXACT [] synonym: "Limitation of joint mobility" EXACT [] synonym: "Limited joint mobility" EXACT [] synonym: "Limited joint motion" EXACT [] is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001377 name: Limited elbow extension namespace: medical_genetics synonym: "Decreased elbow extension" EXACT [] synonym: "Elbow limited extension" EXACT [] synonym: "Limitation of elbow extension" EXACT [] synonym: "Limited extension at elbows" EXACT [] synonym: "Limited forearm extension" EXACT [] synonym: "Restricted elbow extension" EXACT [] is_a: HP:0001376 ! Decreased mobility of joints is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0001378 name: Hyperextensible joints namespace: medical_genetics synonym: "Extensible joints" EXACT [] synonym: "Joint hyperextensibility" EXACT [] is_a: HP:0001382 ! Increased mobility of joints [Term] id: HP:0001379 name: Degenerative joint disease namespace: medical_genetics is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001380 name: Ligamentous laxity namespace: medical_genetics synonym: "Joint ligamentous laxity" EXACT [] is_a: HP:0001382 ! Increased mobility of joints [Term] id: HP:0001381 name: Joint contractures late namespace: medical_genetics is_a: HP:0001372 ! Joint contractures [Term] id: HP:0001382 name: Increased mobility of joints namespace: medical_genetics synonym: "Joint hypermobility" EXACT [] is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001383 name: Loose-jointedness namespace: medical_genetics synonym: "Loosejointedness" EXACT [] is_a: HP:0001382 ! Increased mobility of joints [Term] id: HP:0001384 name: Abnormality of the hip joints namespace: medical_genetics is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001385 name: Hip dysplasia namespace: medical_genetics is_a: HP:0001384 ! Abnormality of the hip joints is_a: HP:0003272 ! Abnormality of the hips [Term] id: HP:0001386 name: Joint swelling namespace: medical_genetics is_a: HP:0000969 ! Edema is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001387 name: Joint stiffness namespace: medical_genetics alt_id: HP:0002775 synonym: "Joint stiffness (hands, shoulder, elbows, knees, and ankles)" EXACT [] synonym: "Stiff joints" EXACT [] is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001388 name: Joint laxity namespace: medical_genetics synonym: "Lax joints" EXACT [] is_a: HP:0001382 ! Increased mobility of joints [Term] id: HP:0001389 name: Severe arthrogryposis namespace: medical_genetics is_a: HP:0001390 ! Arthrogryposis [Term] id: HP:0001390 name: Arthrogryposis namespace: medical_genetics is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0001391 name: Hemarthroses namespace: medical_genetics synonym: "Hemarthrosis" EXACT [] is_a: HP:0005261 ! Joint hemorrhage [Term] id: HP:0001392 name: Abnormality of the liver namespace: medical_genetics synonym: "Liver abnormality" EXACT [] is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0001394 name: Cirrhosis namespace: medical_genetics synonym: "Hepatic cirrhosis" EXACT [] is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001395 name: Hepatic fibrosis namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001396 name: Cholestasis namespace: medical_genetics is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0001397 name: Hepatic steatosis namespace: medical_genetics synonym: "Fatty liver" EXACT [] synonym: "Liver steatosis" EXACT [] synonym: "Steatosis" EXACT [] is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001398 name: Mild hepatomegaly namespace: medical_genetics is_a: HP:0002240 ! Hepatomegaly [Term] id: HP:0001399 name: Hepatic failure namespace: medical_genetics synonym: "Liver failure" EXACT [] is_a: HP:0001410 ! Decreased liver function [Term] id: HP:0001400 name: Hepatic abscesses due to immunodeficiency namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001401 name: Intrahepatic biliary dysgenesis namespace: medical_genetics is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0001402 name: Hepatocellular carcinoma namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0002896 ! Liver cancer [Term] id: HP:0001403 name: Macrovesicular steatosis namespace: medical_genetics is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0001404 name: Hepatocellular necrosis namespace: medical_genetics synonym: "Hepatocellular loss" EXACT [] is_a: HP:0002605 ! Hepatic necrosis [Term] id: HP:0001405 name: Periportal fibrosis namespace: medical_genetics is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0001406 name: Intrahepatic cholestasis namespace: medical_genetics is_a: HP:0001396 ! Cholestasis [Term] id: HP:0001407 name: Hepatic cysts namespace: medical_genetics is_a: HP:0006706 ! Cystic liver disease [Term] id: HP:0001408 name: Bile duct proliferation namespace: medical_genetics synonym: "Proliferation of bile canaliculi" EXACT [] is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0001409 name: Portal hypertension namespace: medical_genetics is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0001410 name: Decreased liver function namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0001411 name: Abnormal liver function tests namespace: medical_genetics synonym: "Abnormal liver function" EXACT [] is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0001412 name: Enteroviral hepatitis namespace: medical_genetics is_a: HP:0006562 ! Viral hepatitis [Term] id: HP:0001413 name: Micronodular cirrhosis namespace: medical_genetics synonym: "Biopsy shows micronodular cirrhosis" EXACT [] is_a: HP:0001394 ! Cirrhosis [Term] id: HP:0001414 name: Microvesicular steatosis namespace: medical_genetics synonym: "Biopsy shows microvesicular steatosis" EXACT [] synonym: "Microvesicular hepatic steatosis" EXACT [] is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0001417 name: X-linked inheritance namespace: medical_genetics alt_id: HP:0001418 def: "A mode of inheritance that is observed for traits related to a gene encoded on the X chromosome." [HPO:curators] synonym: "X-linked" EXACT [] is_a: HP:0000005 ! Inheritance [Term] id: HP:0001419 name: X-linked recessive inheritance namespace: medical_genetics def: "A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele." [HPO:curators] is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001420 name: Isolated cases namespace: medical_genetics is_a: HP:0003745 ! Sporadic [Term] id: HP:0001421 name: Abnormality of the musculature of the hand namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:59:00Z [Term] id: HP:0001422 name: Dwarfism, 'low birth weight' type namespace: medical_genetics synonym: "Low-birth-weight dwarfism" EXACT [] is_a: HP:0001516 ! Dwarfism [Term] id: HP:0001423 name: X-linked dominant inheritance namespace: medical_genetics def: "A mode of inheritance that is observed for dominant traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked dominant disorders tend to manifest very severely in affected males. The severity of manifestation in females may depend on the degree of skewed X inactivation." [HPO:curators] is_a: HP:0001417 ! X-linked inheritance [Term] id: HP:0001424 name: Cachectic dwarfism namespace: medical_genetics is_a: HP:0001516 ! Dwarfism [Term] id: HP:0001425 name: Heterogeneous namespace: medical_genetics synonym: "Genetic heterogeneity" EXACT [] synonym: "Heterogeneity" EXACT [] synonym: "Heterogeneity." EXACT [] synonym: "Heterogeneous." EXACT [] is_a: HP:0000005 ! Inheritance [Term] id: HP:0001426 name: Multifactorial namespace: medical_genetics is_a: HP:0000005 ! Inheritance [Term] id: HP:0001427 name: Mitochondrial inheritance namespace: medical_genetics alt_id: HP:0001431 alt_id: HP:0001506 def: "A mode of inheritance that is observed for traits related to a gene encoded on the mitochondrial genome. Because the mitochondrial genome is almost always maternally inherited, a mitochondrial condition can only be transmitted by females, although the condition can affect both sexes. The proportion of mutant mitochondria can vary (heteroplasmy)." [HPO:curators] synonym: "Mitochondrial" EXACT [] is_a: HP:0000005 ! Inheritance [Term] id: HP:0001428 name: Somatic mutation namespace: medical_genetics is_a: HP:0000005 ! Inheritance [Term] id: HP:0001429 name: Autosomal dominant vs. multifactorial namespace: medical_genetics is_a: HP:0001426 ! Multifactorial [Term] id: HP:0001430 name: Abnormality of the calf musculature namespace: medical_genetics alt_id: HP:0004300 synonym: "Abnormality of calf musculature" EXACT [] is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0002981 ! Abnormality of the calves created_by: peter creation_date: 2008-04-07T10:18:00Z [Term] id: HP:0001432 name: Early death namespace: medical_genetics is_a: HP:0003679 ! Pace of progression [Term] id: HP:0001433 name: Hepatosplenomegaly namespace: medical_genetics is_a: HP:0001744 ! Splenomegaly is_a: HP:0002240 ! Hepatomegaly created_by: peter creation_date: 2008-02-20T10:51:00Z [Term] id: HP:0001435 name: Abnormality of the shoulder musculature namespace: medical_genetics alt_id: HP:0004301 synonym: "Abnormality of shoulder musculature" EXACT [] is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0003043 ! Abnormality of the shoulder created_by: peter creation_date: 2008-04-07T10:19:00Z [Term] id: HP:0001436 name: Abnormality of the foot musculature namespace: medical_genetics is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0001760 ! Abnormality of the feet created_by: peter creation_date: 2008-04-07T10:21:00Z [Term] id: HP:0001437 name: Abnormality of the musculature of the lower limbs namespace: medical_genetics is_a: HP:0002814 ! Abnormality 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: Abdomen abnormality namespace: medical_genetics def: "Abnormality of the abdomen (\"belly\"), that is, the part of the body between the pelvis and the thorax." [HPO:curators] is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0001439 name: Abnormality of the thigh namespace: medical_genetics is_a: HP:0002814 ! Abnormality of the lower limbs created_by: peter creation_date: 2008-04-07T10:26:00Z [Term] id: HP:0001440 name: Synostosis involving metatarsal bones namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones is_a: HP:0009140 ! Synostosis involving bones of the feet created_by: peter creation_date: 2008-04-17T02:36:00Z [Term] id: HP:0001441 name: Abnormality of the musculature of the thigh namespace: medical_genetics is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0001439 ! Abnormality of the thigh created_by: peter creation_date: 2008-04-07T10:27:00Z [Term] id: HP:0001442 name: Somatic mosaicism namespace: medical_genetics is_a: HP:0001428 ! Somatic mutation [Term] id: HP:0001443 name: Abnormality of the gluteal musculature namespace: medical_genetics is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter creation_date: 2008-04-07T10:31:00Z [Term] id: HP:0001444 name: Autosomal dominant somatic cell mutation namespace: medical_genetics is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001445 name: Abnormality of the hip-girdle musculature namespace: medical_genetics is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter creation_date: 2008-04-07T10:31:00Z [Term] id: HP:0001446 name: Abnormality of the musculature of the upper limbs namespace: medical_genetics is_a: HP:0002817 ! Abnormality 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:0001447 name: Autosomal dominant mutation of keratin 5 (KRT5 namespace: medical_genetics is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001448 name: Also a dominant form namespace: medical_genetics is_a: HP:0001447 ! Autosomal dominant mutation of keratin 5 (KRT5 [Term] id: HP:0001449 name: Duplication of metatarsal bones namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones is_a: HP:0009136 ! Duplication involving bones of the feet created_by: peter creation_date: 2008-04-17T02:37:00Z [Term] id: HP:0001450 name: Y-linked inheritance namespace: medical_genetics def: "A mode of inheritance that is observed for traits related to a gene encoded on the Y chromosome." [HPO:curators] is_a: HP:0000005 ! Inheritance [Term] id: HP:0001451 name: Autosomal dominant with reduced penetrance namespace: medical_genetics is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001452 name: Autosomal dominant contiguous gene syndrome namespace: medical_genetics is_a: HP:0000006 ! Autosomal dominant inheritance is_a: HP:0001466 ! Contiguous gene syndrome [Term] id: HP:0001453 name: Unclear namespace: medical_genetics is_a: HP:0000005 ! Inheritance [Term] id: HP:0001454 name: Abnormality of the upper arm namespace: medical_genetics is_a: HP:0002817 ! Abnormality of the upper limbs created_by: peter creation_date: 2008-04-07T10:41:00Z [Term] id: HP:0001455 name: Usually autosomal dominant namespace: medical_genetics is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001456 name: Autosomal dominant vs. polygenic namespace: medical_genetics is_a: HP:0000006 ! Autosomal dominant inheritance is_a: HP:0001426 ! Multifactorial [Term] id: HP:0001457 name: Abnormality of the musculature of the upper arm namespace: medical_genetics is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0001454 ! Abnormality of the upper arm created_by: peter creation_date: 2008-04-07T10:42:00Z [Term] id: HP:0001458 name: Mitochondrial form namespace: medical_genetics is_a: HP:0001427 ! Mitochondrial inheritance [Term] id: HP:0001459 name: I-III toe syndactyly namespace: medical_genetics is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0001460 name: Aplasia/Hypoplasia involving the musculature namespace: medical_genetics def: "Absence or underdevelopment of the musculature." [HPO:curators] is_a: HP:0003011 ! Abnormality of musculature created_by: peter creation_date: 2008-04-07T10:46:00Z [Term] id: HP:0001461 name: Multiple loci namespace: medical_genetics is_a: HP:0000005 ! Inheritance [Term] id: HP:0001462 name: Abnormality of external features of the abdomen namespace: medical_genetics is_a: HP:0001438 ! Abdomen abnormality [Term] id: HP:0001463 name: Autosomal dominant with variable expression and incomplete penetrance namespace: medical_genetics is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001464 name: Aplasia/Hypoplasia involving the shoulder musculature namespace: medical_genetics def: "Absence or underdevelopment of the muscles of the shoulder." [HPO:curators] is_a: HP:0001435 ! Abnormality of the shoulder musculature is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:49:00Z [Term] id: HP:0001465 name: Amyotrophy involving the shoulder musculature namespace: medical_genetics is_a: HP:0001435 ! Abnormality of the shoulder musculature created_by: peter creation_date: 2008-04-07T10:50:00Z [Term] id: HP:0001466 name: Contiguous gene syndrome namespace: medical_genetics is_a: HP:0000005 ! Inheritance [Term] id: HP:0001467 name: Aplasia/Hypoplasia involving the musculature of the upper limbs namespace: medical_genetics def: "Absence or underdevelopment of the musculature of the upper limbs." [HPO:curators] is_a: HP:0001446 ! Abnormality of the musculature of the upper limbs is_a: HP:0001460 ! Aplasia/Hypoplasia involving the musculature is_a: HP:0009128 ! Aplasia/Hypoplasia involving the musculature of the extremities created_by: peter creation_date: 2008-04-07T10:51:00Z [Term] id: HP:0001468 name: Aplasia/Hypoplasia involving the musculature of the upper arm namespace: medical_genetics def: "Absence or underdevelopment of the muscles of the upper arm." [HPO:curators] is_a: HP:0001457 ! Abnormality of the musculature of the upper arm is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs created_by: peter creation_date: 2008-04-07T10:52:00Z [Term] id: HP:0001469 name: Abnormality of the musculature of the pelvis namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis created_by: peter creation_date: 2008-04-07T10:55:00Z [Term] id: HP:0001470 name: Sex-limited autosomal dominant namespace: medical_genetics is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001471 name: Aplasia/Hypoplasia of the musculature of the pelvis namespace: medical_genetics is_a: HP:0001469 ! Abnormality of the musculature of the pelvis created_by: peter creation_date: 2008-04-07T10:56:00Z [Term] id: HP:0001472 name: Familial predisposition namespace: medical_genetics is_a: HP:0000005 ! Inheritance [Term] id: HP:0001473 name: Osteolysis involving metatarsal bones namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones is_a: HP:0009134 ! Osteolysis involving bones of the feet created_by: peter creation_date: 2008-04-17T02:38:00Z [Term] id: HP:0001474 name: Sclerotic scapulae namespace: medical_genetics is_a: HP:0000782 ! Abnormality of the scapulae [Term] id: HP:0001475 name: Male-limited autosomal dominant namespace: medical_genetics is_a: HP:0000006 ! Autosomal dominant inheritance [Term] id: HP:0001476 name: Delayed closure of the anterior fontanelle namespace: medical_genetics def: "A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life." [HPO:curators] synonym: "Delayed anterior fontanelle closure" EXACT [] synonym: "Delayed closure anterior fontanel" EXACT [] synonym: "Delayed closure anterior fontanelle" EXACT [] synonym: "Delayed closure of anterior fontanel" EXACT [] synonym: "Delayed closure of anterior fontanelle" EXACT [] synonym: "Late closure of large anterior fontanel" EXACT [] synonym: "Persistent anterior fontanelle" EXACT [] is_a: HP:0000236 ! Abnormality of the anterior fontanelle is_a: HP:0000270 ! Delayed closure of fontanel [Term] id: HP:0001477 name: Compensatory chin elevation namespace: medical_genetics synonym: "Compensatory head tilt/chin elevation" EXACT [] is_a: HP:0000234 ! Head abnormality [Term] id: HP:0001478 name: Histological abnormality of the skin namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001479 name: Electron microscopic abnormality of the skin namespace: medical_genetics is_a: HP:0001478 ! Histological abnormality of the skin [Term] id: HP:0001480 name: Freckling namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0001482 name: Subcutaneous nodules namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001483 name: Eye poking namespace: medical_genetics is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0001485 name: Anophthalmia, clinical namespace: medical_genetics is_a: HP:0000528 ! Anophthalmia [Term] id: HP:0001486 name: Epiphora namespace: medical_genetics is_a: HP:0000632 ! Lacrimation abnormality [Term] id: HP:0001487 name: Hypopigmented fundi namespace: medical_genetics synonym: "Hypopigmented ocular fundus" EXACT [] is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0001488 name: Bilateral ptosis namespace: medical_genetics is_a: HP:0000508 ! Ptosis [Term] id: HP:0001489 name: Vitreous detachment namespace: medical_genetics is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0001490 name: Subcapsular opacities namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0001491 name: Congenital fibrosis of extraocular muscles namespace: medical_genetics synonym: "Congenital fibrosis of extraocular muscles (CFEOM)" EXACT [] synonym: "Congenital fibrosis of the extraocular muscles" EXACT [] is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0001492 name: Axenfeld anomaly namespace: medical_genetics comment: 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. is_a: HP:0000525 ! Abnormality of the iris [Term] id: HP:0001493 name: Falciform retinal folds namespace: medical_genetics synonym: "Falciform retinal fold" EXACT [] is_a: HP:0008013 ! Congenital retinal folds [Term] id: HP:0001494 name: Cranial dystonia namespace: medical_genetics is_a: HP:0001332 ! Dystonia [Term] id: HP:0001495 name: Carpal osteolysis namespace: medical_genetics synonym: "Carpal bone osteolysis" EXACT [] is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0001497 name: Short, broad fingers namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001498 name: Carpal bone hypoplasia namespace: medical_genetics alt_id: HP:0006117 alt_id: HP:0006130 synonym: "Hypoplasia of carpal bones" EXACT [] synonym: "Hypoplastic carpal bones" EXACT [] is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones [Term] id: HP:0001499 name: First metacarpal hypoplasia namespace: medical_genetics synonym: "First metacarpals hypoplastic" EXACT [] is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0001500 name: Broad fingers namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0001501 name: 6 metacarpals namespace: medical_genetics is_a: HP:0005917 ! Supernumerary metacarpal bones [Term] id: HP:0001502 name: Long, thin hands namespace: medical_genetics is_a: HP:0001176 ! Large hands is_a: HP:0004283 ! Narrow hand [Term] id: HP:0001504 name: Metacarpal osteolysis namespace: medical_genetics synonym: "Metacarpals osteolysis" EXACT [] is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0001507 name: Growth abnormality namespace: medical_genetics is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0001508 name: Failure to thrive namespace: medical_genetics is_a: HP:0001510 ! Growth retardation [Term] id: HP:0001509 name: Short stature namespace: medical_genetics alt_id: HP:0003507 def: "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to \"short stature\" as height more than 2 standard deviations below the mean for age and gender." [HPO:curators] synonym: "Below the third percentile" EXACT [] synonym: "Short stature (<3rd percentile)" EXACT [] synonym: "Short stature." EXACT [] synonym: "Small stature" EXACT [] is_a: HP:0004322 ! Decreased body height [Term] id: HP:0001510 name: Growth retardation namespace: medical_genetics alt_id: HP:0001434 alt_id: HP:0001512 alt_id: HP:0001532 comment: Poor or abnormally slow gains in weight or height in a child. synonym: "Delayed growth" EXACT [] synonym: "Growth deficiency" EXACT [] synonym: "Growth delay" EXACT [] synonym: "Physical retardation" EXACT [] synonym: "Poor growth" EXACT [] synonym: "Retarded growth" EXACT [] is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0001511 name: Intrauterine growth retardation namespace: medical_genetics synonym: "Intrauterine growth retardation (IUGR)" EXACT [] synonym: "Intrauterine growth retardation, iugr" EXACT [] synonym: "Intrauterine retardation" EXACT [] is_a: HP:0001515 ! Prenatal growth deficiency [Term] id: HP:0001513 name: Obesity namespace: medical_genetics is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001514 name: Postnatal growth retardation namespace: medical_genetics synonym: "Growth failure, postnatal" EXACT [] synonym: "Poor postnatal growth" EXACT [] synonym: "Post natal growth retardation" EXACT [] synonym: "Postnatal growth deficiency" EXACT [] synonym: "Postnatal growth delay" EXACT [] synonym: "Postnatal onset growth deficiency" EXACT [] synonym: "Postnatal onset growth retardation" EXACT [] is_a: HP:0001510 ! Growth retardation [Term] id: HP:0001515 name: Prenatal growth deficiency namespace: medical_genetics synonym: "Prenatal growth failure" EXACT [] synonym: "Prenatal growth retardation" EXACT [] synonym: "Prenatal onset growth retardation" EXACT [] synonym: "Prenatal-onset growth retardation" EXACT [] is_a: HP:0001510 ! Growth retardation [Term] id: HP:0001516 name: Dwarfism namespace: medical_genetics is_a: HP:0004322 ! Decreased body height [Term] id: HP:0001517 name: Growth failure namespace: medical_genetics is_a: HP:0001510 ! Growth retardation [Term] id: HP:0001518 name: Low birth weight namespace: medical_genetics synonym: "Small for gestational age" EXACT [] is_a: HP:0001823 ! Low weight [Term] id: HP:0001519 name: Marfanoid habitus namespace: medical_genetics alt_id: HP:0003511 synonym: "Marfanoid body habitus" EXACT [] is_a: HP:0000098 ! Increased body height is_a: HP:0001533 ! Asthenic habitus [Term] id: HP:0001520 name: Large for gestational age namespace: medical_genetics alt_id: HP:0001825 comment: This refers to babies are those whose birth weight lies above the 90th percentile for that gestational age. synonym: "Birth weight > 90th percentile" EXACT [] synonym: "Birthweight > 90th percentile" EXACT [] is_a: HP:0004324 ! Increased body weight [Term] id: HP:0001521 name: Severe growth retardation namespace: medical_genetics synonym: "Marked growth retardation" EXACT [] is_a: HP:0001510 ! Growth retardation [Term] id: HP:0001522 name: Death in infancy namespace: medical_genetics synonym: "Lethal in infancy" EXACT [] is_a: HP:0003576 ! Onset in infancy [Term] id: HP:0001523 name: Short-limbed dwarfism namespace: medical_genetics is_a: HP:0001516 ! Dwarfism [Term] id: HP:0001524 name: Short trunk namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage is_a: HP:0004322 ! Decreased body height [Term] id: HP:0001525 name: Severe failure to thrive namespace: medical_genetics synonym: "Marked failure to thrive" EXACT [] is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001526 name: Autosomal recessive predisposition namespace: medical_genetics is_a: HP:0000007 ! Autosomal recessive inheritance [Term] id: HP:0001527 name: Tall stature namespace: medical_genetics is_a: HP:0000098 ! Increased body height [Term] id: HP:0001528 name: Hemihypertrophy namespace: medical_genetics is_a: HP:0000098 ! Increased body height [Term] id: HP:0001529 name: Slender build namespace: medical_genetics is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001530 name: Growth retardation, mild namespace: medical_genetics synonym: "Moderate growth retardation" EXACT [] is_a: HP:0001510 ! Growth retardation [Term] id: HP:0001531 name: Failure to thrive in infancy namespace: medical_genetics is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0001533 name: Asthenic habitus namespace: medical_genetics comment: Slender, long-limbed habitus. is_a: HP:0000098 ! Increased body height is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001534 name: Genitourinary atresia namespace: medical_genetics is_a: HP:0000148 ! Vaginal atresia is_a: HP:0000809 ! Urinary tract atresia is_a: HP:0001827 ! Genital atresia created_by: peter creation_date: 2008-02-27T04:00:00Z [Term] id: HP:0001535 name: Poor weight gain namespace: medical_genetics is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001536 name: Short-limb dwarfism identifiable at birth namespace: medical_genetics synonym: "Short limb dwarfism recognizable at birth" EXACT [] synonym: "Short-limbed dwarfism identifiable at birth" EXACT [] is_a: HP:0001523 ! Short-limbed dwarfism [Term] id: HP:0001537 name: Umbilical hernia namespace: medical_genetics def: "Protrusion of abdominal contents through a defect in the abdominal wall musculature around the umbilicus. Skin and subcutaneous tissue overlie the defect." [HPO:curators] synonym: "Umbilical hernias" EXACT [] is_a: HP:0001551 ! Abnormal umbilicus is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0001538 name: Protuberant abdomen namespace: medical_genetics def: "A thrusting or bulging out of the abdomen." [HPO:curators] synonym: "Abdominal protuberance" EXACT [] is_a: HP:0003270 ! Abdominal distention [Term] id: HP:0001539 name: Omphalocele namespace: medical_genetics is_a: HP:0004298 ! Abnormality of the abdominal wall musculature [Term] id: HP:0001540 name: Diastasis recti namespace: medical_genetics is_a: HP:0004298 ! Abnormality of the abdominal wall musculature [Term] id: HP:0001541 name: Ascites namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0001543 name: Gastroschisis namespace: medical_genetics is_a: HP:0004298 ! Abnormality of the abdominal wall musculature [Term] id: HP:0001544 name: Prominent umbilicus namespace: medical_genetics def: "Abnormally prominent umbilicus (belly button)." [HPO:curators] is_a: HP:0001551 ! Abnormal umbilicus [Term] id: HP:0001545 name: Anteriorly placed anus namespace: medical_genetics def: "Anterior malposition of the anus." [HPO:curators] synonym: "Anteriorly displaced anus" EXACT [] is_a: HP:0004397 ! Ectopic anus [Term] id: HP:0001546 name: Protuberant abdomen due to muscle weakness namespace: medical_genetics is_a: HP:0004298 ! Abnormality of the abdominal wall musculature [Term] id: HP:0001547 name: Abnormality of the morphology or size of the rib cage namespace: medical_genetics is_a: HP:0000765 ! Abnormality of the thorax [Term] id: HP:0001548 name: Overgrowth namespace: medical_genetics comment: Childhood overgrowth syndromes are characterised by advanced height and head circumference. is_a: HP:0000098 ! Increased body height [Term] id: HP:0001549 name: Abnormality of the ileum namespace: medical_genetics is_a: HP:0002244 ! Abnormality of the small intestine created_by: peter creation_date: 2008-02-20T11:05:00Z [Term] id: HP:0001551 name: Abnormal umbilicus namespace: medical_genetics def: "Abnormality of the umbilicus (also known as the belly button or the navel)." [HPO:curators] is_a: HP:0001462 ! Abnormality of external features of the abdomen [Term] id: HP:0001552 name: Barrel-shaped chest namespace: medical_genetics alt_id: HP:0000781 synonym: "Barrel chest" EXACT [] is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0001553 name: Broad chest namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0001555 name: Asymmetric chest namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0001556 name: Sloping shoulders namespace: medical_genetics synonym: "Down-sloping shoulders" EXACT [] is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0001557 name: Prenatal movement abnormality namespace: medical_genetics is_a: HP:0001197 ! Prenatal manifestations and birth abnormalities [Term] id: HP:0001558 name: Decreased fetal movement namespace: medical_genetics synonym: "Decreased fetal movements" EXACT [] synonym: "Reduced fetal movement" EXACT [] synonym: "Reduced fetal movements" EXACT [] is_a: HP:0001557 ! Prenatal movement abnormality [Term] id: HP:0001559 name: Decreased fetal activity namespace: medical_genetics is_a: HP:0001558 ! Decreased fetal movement [Term] id: HP:0001560 name: Amniotic fluid abnormality namespace: medical_genetics is_a: HP:0001197 ! Prenatal manifestations and birth abnormalities [Term] id: HP:0001561 name: Polyhydramnios namespace: medical_genetics synonym: "Hydramnios" EXACT [] synonym: "Polyhydramnios pregnancy" EXACT [] is_a: HP:0001560 ! Amniotic fluid abnormality [Term] id: HP:0001562 name: Oligohydramnios namespace: medical_genetics synonym: "Maternal oligohydramnios" EXACT [] is_a: HP:0001560 ! Amniotic fluid abnormality [Term] id: HP:0001563 name: Fetal polyuria namespace: medical_genetics is_a: HP:0001560 ! Amniotic fluid abnormality [Term] id: HP:0001564 name: Early tooth loss namespace: medical_genetics is_a: HP:0006480 ! Premature loss of teeth [Term] id: HP:0001565 name: Enamel dysplasia namespace: medical_genetics is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0001566 name: Widely-spaced upper incisors namespace: medical_genetics is_a: HP:0000699 ! Diastema [Term] id: HP:0001567 name: Primary and secondary teeth affected namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0001568 name: Single central upper incisor namespace: medical_genetics is_a: HP:0000676 ! Abnormality of the incisors [Term] id: HP:0001569 name: Malposition of teeth namespace: medical_genetics synonym: "Abnormal dental position" EXACT [] synonym: "Malpositioned teeth" EXACT [] is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0001570 name: Central incisor gap namespace: medical_genetics synonym: "Diastasis of the central incisors" EXACT [] is_a: HP:0000699 ! Diastema [Term] id: HP:0001571 name: Multiple impacted teeth namespace: medical_genetics synonym: "Impacted teeth" EXACT [] is_a: HP:0000692 ! Misalignment of teeth [Term] id: HP:0001572 name: Macrodontia namespace: medical_genetics is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0001573 name: Single central incisor namespace: medical_genetics is_a: HP:0000676 ! Abnormality of the incisors [Term] id: HP:0001574 name: Integument abnormality namespace: medical_genetics comment: Abnormality of skin, hair, or nails. is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0001575 name: Mood changes namespace: medical_genetics is_a: HP:0001296 ! Mood alterations [Term] id: HP:0001578 name: Hypercortisolism namespace: medical_genetics is_a: HP:0004316 ! Increased cortisol production [Term] id: HP:0001579 name: ACTH-independent hypercortisolemia namespace: medical_genetics is_a: HP:0001578 ! Hypercortisolism [Term] id: HP:0001580 name: Pigmented micronodular adrenocortical disease namespace: medical_genetics is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0001581 name: Recurrent skin infections namespace: medical_genetics alt_id: HP:0007563 def: "Infections of the skin that happen multiple times." [HPO:curators] synonym: "Cutaneous infections" EXACT [] synonym: "Skin infections" EXACT [] is_a: HP:0002727 ! Abnormal tendency to infections of the skin [Term] id: HP:0001582 name: Loose, redundant skin namespace: medical_genetics synonym: "Loose redundant skin" EXACT [] synonym: "Sagging, redundant skin" EXACT [] is_a: HP:0000973 ! Cutis laxa [Term] id: HP:0001583 name: Rotary nystagmus namespace: medical_genetics is_a: HP:0000639 ! Nystagmus [Term] id: HP:0001584 name: Highly arched eyebrows namespace: medical_genetics synonym: "High, rounded eyebrows" EXACT [] synonym: "High-arched eyebrows" EXACT [] is_a: HP:0002553 ! Arched eyebrows [Term] id: HP:0001586 name: Vesicovaginal fistula namespace: medical_genetics is_a: HP:0004320 ! Vaginal fistula is_a: HP:0004321 ! Bladder fistula [Term] id: HP:0001587 name: Primary ovarian failure namespace: medical_genetics is_a: HP:0000137 ! Abnormality of the ovaries [Term] id: HP:0001588 name: Clinodactyly (4th and 5th fingers) namespace: medical_genetics is_a: HP:0001158 ! Fifth finger clinodactyly [Term] id: HP:0001590 name: Small chest namespace: medical_genetics synonym: "Small thorax" EXACT [] is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0001591 name: Bell-shaped chest namespace: medical_genetics synonym: "Bell-shaped thorax" EXACT [] is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0001592 name: Selective tooth agenesis namespace: medical_genetics is_a: HP:0000674 ! Anodontia [Term] id: HP:0001593 name: Microdontia (maxillary lateral incisors) namespace: medical_genetics is_a: HP:0000691 ! Microdontia [Term] id: HP:0001594 name: Pseudoscleroderma namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0001595 name: Hair abnormality namespace: medical_genetics is_a: HP:0001574 ! Integument abnormality [Term] id: HP:0001596 name: Alopecia namespace: medical_genetics alt_id: HP:0002238 alt_id: HP:0008068 def: "Loss of hair from the head or body." [HPO:curators] synonym: "Hair loss" EXACT [] is_a: HP:0002115 ! Sparse or absent hair [Term] id: HP:0001597 name: Abnormality of the nails namespace: medical_genetics is_a: HP:0001574 ! Integument abnormality [Term] id: HP:0001598 name: Koilonychia namespace: medical_genetics alt_id: HP:0001815 comment: Koilonychia literally means spoon nails. synonym: "Spoon-shaped nails" EXACT [] is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001600 name: Abnormality of the larynx namespace: medical_genetics synonym: "Laryngeal abnormalities" EXACT [] synonym: "Laryngeal anomalies" EXACT [] is_a: HP:0002087 ! Abnormality of the airways [Term] id: HP:0001601 name: Laryngomalacia namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001602 name: Laryngeal stenosis namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001603 name: Weakness of the vocal cords namespace: medical_genetics is_a: HP:0008777 ! Abnormality of the vocal cords [Term] id: HP:0001604 name: Vocal cord paresis namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0001603 ! Weakness of the vocal cords [Term] id: HP:0001605 name: Vocal cord paralysis namespace: medical_genetics is_a: HP:0001603 ! Weakness of the vocal cords [Term] id: HP:0001606 name: Vocal cord paralysis (caused by tumor impingement) namespace: medical_genetics is_a: HP:0001603 ! Weakness of the vocal cords [Term] id: HP:0001607 name: Subglottic stenosis namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001608 name: Abnormality of the voice namespace: medical_genetics synonym: "Voice abnormality" EXACT [] is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0001609 name: Hoarse voice namespace: medical_genetics synonym: "Hoarseness" EXACT [] is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001611 name: Nasal speech namespace: medical_genetics synonym: "Nasal voice" EXACT [] is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001612 name: Weak cry namespace: medical_genetics is_a: HP:0001608 ! Abnormality of the voice is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0001613 name: Hoarse voice (caused by tumor impingement) namespace: medical_genetics is_a: HP:0001609 ! Hoarse voice [Term] id: HP:0001614 name: Hypernasal speech namespace: medical_genetics synonym: "Hypernasal voice" EXACT [] is_a: HP:0001611 ! Nasal speech [Term] id: HP:0001615 name: Hoarse cry namespace: medical_genetics is_a: HP:0001609 ! Hoarse voice [Term] id: HP:0001616 name: Hoarse voice due to vocal cord paresis namespace: medical_genetics is_a: HP:0001604 ! Vocal cord paresis is_a: HP:0001609 ! Hoarse voice [Term] id: HP:0001617 name: Absent speech namespace: medical_genetics is_a: HP:0001608 ! Abnormality of the voice is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0001618 name: Dysphonia namespace: medical_genetics is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001619 name: Husky voice namespace: medical_genetics is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001620 name: High pitched voice namespace: medical_genetics alt_id: HP:0001610 synonym: "High-pitched voice" EXACT [] is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001621 name: Soft voice namespace: medical_genetics is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001622 name: Premature birth namespace: medical_genetics synonym: "Premature delivery" EXACT [] synonym: "Premature delivery of affected infants" EXACT [] synonym: "Preterm delivery" EXACT [] is_a: HP:0001197 ! Prenatal manifestations and birth abnormalities [Term] id: HP:0001623 name: breech presentation namespace: medical_genetics synonym: "Breech presentation at birth" EXACT [] is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001624 name: Stillbirth namespace: medical_genetics synonym: "Stillborn" EXACT [] is_a: HP:0001197 ! Prenatal manifestations and birth abnormalities [Term] id: HP:0001625 name: Stillborn or death shortly after birth namespace: medical_genetics synonym: "Die at birth or shortly after birth" EXACT [] is_a: HP:0001624 ! Stillbirth [Term] id: HP:0001626 name: Cardiovascular abnormality namespace: medical_genetics synonym: "Cerebrovascular anomaly" EXACT [] is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0001627 name: Cardiac abnormality namespace: medical_genetics synonym: "Cardiac abnormalities" EXACT [] synonym: "Cardiac anomalies" EXACT [] is_a: HP:0001626 ! Cardiovascular abnormality [Term] id: HP:0001628 name: Ventricular septum abnormality namespace: medical_genetics is_a: HP:0001671 ! Abnormality of the cardiac septa is_a: HP:0001713 ! Abnormality of the cardiac ventricles is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001629 name: Ventricular septal defect namespace: medical_genetics alt_id: HP:0001652 synonym: "Ventricular septal defects" EXACT [] synonym: "Ventriculoseptal defect" EXACT [] is_a: HP:0001628 ! Ventricular septum abnormality [Term] id: HP:0001630 name: Atrial septum abnormality namespace: medical_genetics is_a: HP:0001671 ! Abnormality of the cardiac septa is_a: HP:0002564 ! Cardiac malformation is_a: HP:0005120 ! Abnormality of the cardiac atria [Term] id: HP:0001631 name: Atrial septal defect namespace: medical_genetics synonym: "Atria septal defect" EXACT [] synonym: "Atrial septal defects" EXACT [] is_a: HP:0001630 ! Atrial septum abnormality [Term] id: HP:0001633 name: Abnormality of the mitral valve namespace: medical_genetics is_a: HP:0006705 ! Abnormality of the atrioventricular valves [Term] id: HP:0001634 name: Mitral valve prolapse namespace: medical_genetics is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0001635 name: Congestive heart failure namespace: medical_genetics alt_id: HP:0006686 def: "The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction." [HPO:curators] synonym: "Cardiac failure" EXACT [] synonym: "Cardiac insufficiency" EXACT [] synonym: "Heart failure" EXACT [] is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0001636 name: Tetralogy of Fallot namespace: medical_genetics synonym: "Tetrology of fallot" EXACT [] is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001637 name: Abnormality of the myocardium namespace: medical_genetics is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0001638 name: Cardiomyopathy namespace: medical_genetics is_a: HP:0001637 ! Abnormality of the myocardium [Term] id: HP:0001639 name: Hypertrophic cardiomyopathy namespace: medical_genetics synonym: "Cardiomyopathy, hypertrophic" EXACT [] is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001640 name: Cardiomegaly namespace: medical_genetics is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0001641 name: Abnormality of the pulmonary valve namespace: medical_genetics is_a: HP:0001654 ! Abnormality of the heart valves [Term] id: HP:0001642 name: Pulmonic stenosis namespace: medical_genetics synonym: "Pulmonary stenosis" EXACT [] synonym: "Pulmonary valve stenosis" EXACT [] synonym: "Pulmonic valve stenosis" EXACT [] is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0001643 name: Patent ductus arteriosus namespace: medical_genetics synonym: "Ductus arteriosus" EXACT [] is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001644 name: Dilated cardiomyopathy namespace: medical_genetics synonym: "Cardiomyopathy, dilated" EXACT [] is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001645 name: Sudden cardiac death namespace: medical_genetics is_a: HP:0001695 ! Cardiac arrest [Term] id: HP:0001646 name: Abnormality of the aortic valve namespace: medical_genetics is_a: HP:0001654 ! Abnormality of the heart valves [Term] id: HP:0001647 name: Bicuspid aortic valve namespace: medical_genetics is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0001648 name: Cor pulmonale namespace: medical_genetics comment: Cor pulmonale refers to a change in structure and function of the right ventricle of the heart as a result of a pulmonary disorder, generally resulting in right ventricular hypertrophy. is_a: HP:0001707 ! Right ventricular abnormality [Term] id: HP:0001649 name: Tachycardia namespace: medical_genetics alt_id: HP:0001720 def: "A rapid heartrate that exceeds the range of the normal resting heartrate for age." [HPO:curators] synonym: "Rapid heart beat" EXACT [] is_a: HP:0001665 ! Heart rhythm disorders [Term] id: HP:0001650 name: Aortic stenosis namespace: medical_genetics synonym: "Aortic valve stenosis" EXACT [] is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0001651 name: Dextrocardia namespace: medical_genetics is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001653 name: Mitral regurgitation namespace: medical_genetics synonym: "Mitral insufficiency" EXACT [] synonym: "Mitral valve insufficiency" EXACT [] synonym: "Mitral valve regurgitation" EXACT [] is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0001654 name: Abnormality of the heart valves namespace: medical_genetics alt_id: HP:0001703 synonym: "Valvular abnormality" EXACT [] synonym: "Valvular heart disease" EXACT [] is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0001655 name: Patent foramen ovale namespace: medical_genetics is_a: HP:0001630 ! Atrial septum abnormality [Term] id: HP:0001656 name: EKG abnormality namespace: medical_genetics synonym: "Abnormal electrocardiogram" EXACT [] synonym: "Ekg abnormalities" EXACT [] synonym: "Electrocardiographic changes" EXACT [] is_a: HP:0001665 ! Heart rhythm disorders [Term] id: HP:0001657 name: Prolonged QT interval on EKG namespace: medical_genetics synonym: "Long QT syndrome" EXACT [] synonym: "Prolong qt interval on ekg" EXACT [] is_a: HP:0001656 ! EKG abnormality [Term] id: HP:0001658 name: Myocardial infarction namespace: medical_genetics is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0001659 name: Aortic insufficiency namespace: medical_genetics synonym: "Aortic regurgitation" EXACT [] synonym: "Aortic valve regurgitation" EXACT [] is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0001660 name: Persistant truncus arteriosus namespace: medical_genetics def: "Persistent Truncus Arteriosus results from a failure of the truncus arteriosus to close." [HPO:curators] synonym: "Truncus arteriosus" RELATED [] is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001662 name: Bradycardia namespace: medical_genetics is_a: HP:0001665 ! Heart rhythm disorders [Term] id: HP:0001663 name: Ventricular fibrillation namespace: medical_genetics is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0001664 name: Torsade de pointes namespace: medical_genetics synonym: "Torsades de pointes" EXACT [] is_a: HP:0001663 ! Ventricular fibrillation [Term] id: HP:0001665 name: Heart rhythm disorders namespace: medical_genetics alt_id: HP:0001661 alt_id: HP:0001666 alt_id: HP:0001687 alt_id: HP:0005158 synonym: "Arrhythmia" EXACT [] synonym: "Arrhythmias" EXACT [] synonym: "Cardiac arrhythmia" EXACT [] synonym: "Cardiac arrhythmias" EXACT [] synonym: "Cardiac conduction abnormalities" EXACT [] synonym: "Cardiac conduction defects" EXACT [] synonym: "Cardiac rhythm disturbances" EXACT [] is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0001667 name: Right ventricular hypertrophy namespace: medical_genetics is_a: HP:0001707 ! Right ventricular abnormality is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001668 name: Heart block namespace: medical_genetics def: "This group comprises blockages of the cardiac conduction system including sinoatrial (SA) blocks, atriventricular (AV) blocks, infra-Hisian blocks, and left or right bundle branch blocks." [HPO:curators] is_a: HP:0001665 ! Heart rhythm disorders [Term] id: HP:0001669 name: Transposition of the great vessels namespace: medical_genetics synonym: "Transposition of great vessels" EXACT [] is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001670 name: Asymmetric septal hypertrophy namespace: medical_genetics is_a: HP:0001671 ! Abnormality of the cardiac septa [Term] id: HP:0001671 name: Abnormality of the cardiac septa namespace: medical_genetics alt_id: HP:0001690 synonym: "Septal defects" EXACT [] is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0001672 name: Symmetric, concentric, hypertrophic cardiomyopathy namespace: medical_genetics is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001673 name: Tachycardia (with pheochromocytoma) namespace: medical_genetics is_a: HP:0001675 ! Rhythm disturbances associated with pheochromocytoma [Term] id: HP:0001674 name: Atrioventricular canal namespace: medical_genetics alt_id: HP:0001689 is_a: HP:0001671 ! Abnormality of the cardiac septa is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001675 name: Rhythm disturbances associated with pheochromocytoma namespace: medical_genetics is_a: HP:0001665 ! Heart rhythm disorders [Term] id: HP:0001676 name: Palpitations (with pheochromocytoma) namespace: medical_genetics is_a: HP:0001675 ! Rhythm disturbances associated with pheochromocytoma [Term] id: HP:0001677 name: Coronary artery disease namespace: medical_genetics is_a: HP:0002621 ! Atherosclerosis is_a: HP:0006704 ! Abnormality of the coronary arteries [Term] id: HP:0001678 name: Atrioventricular block namespace: medical_genetics is_a: HP:0001668 ! Heart block [Term] id: HP:0001679 name: Abnormalities of the aorta namespace: medical_genetics is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0001680 name: Coarctation of aorta namespace: medical_genetics synonym: "Aortic coarctation" EXACT [] synonym: "Coaractation of the aorta" EXACT [] synonym: "Coarctation of the aorta" EXACT [] is_a: HP:0001679 ! Abnormalities of the aorta [Term] id: HP:0001681 name: Angina pectoris namespace: medical_genetics is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0001682 name: Subaortic stenosis namespace: medical_genetics is_a: HP:0001650 ! Aortic stenosis [Term] id: HP:0001683 name: Ectopia cordis namespace: medical_genetics is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001684 name: Secundum atrial septal defect namespace: medical_genetics is_a: HP:0001631 ! Atrial septal defect [Term] id: HP:0001685 name: Myocardial fibrosis namespace: medical_genetics is_a: HP:0001637 ! Abnormality of the myocardium [Term] id: HP:0001686 name: Loss of voice namespace: medical_genetics is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0001688 name: Sinus bradycardia namespace: medical_genetics is_a: HP:0001662 ! Bradycardia [Term] id: HP:0001691 name: Muscular subaortic stenosis namespace: medical_genetics is_a: HP:0001682 ! Subaortic stenosis [Term] id: HP:0001692 name: Atrial arrhythmias namespace: medical_genetics is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0001693 name: Shunts namespace: medical_genetics is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0001694 name: Right-to-left shunt namespace: medical_genetics is_a: HP:0001693 ! Shunts [Term] id: HP:0001695 name: Cardiac arrest namespace: medical_genetics is_a: HP:0001665 ! Heart rhythm disorders [Term] id: HP:0001696 name: Situs inversus namespace: medical_genetics is_a: HP:0004307 ! Abnormal anatomic location of the heart [Term] id: HP:0001697 name: Abnormality of the pericardium namespace: medical_genetics is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0001698 name: Pericardial effusion namespace: medical_genetics synonym: "Pericardial effusions" EXACT [] is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0001699 name: Sudden death namespace: medical_genetics is_a: HP:0003679 ! Pace of progression [Term] id: HP:0001700 name: Myocardial necrosis namespace: medical_genetics is_a: HP:0001637 ! Abnormality of the myocardium [Term] id: HP:0001701 name: Pericarditis namespace: medical_genetics is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0001702 name: Abnormality of the tricuspid valve namespace: medical_genetics is_a: HP:0006705 ! Abnormality of the atrioventricular valves [Term] id: HP:0001704 name: Tricuspid valve prolapse namespace: medical_genetics is_a: HP:0001702 ! Abnormality of the tricuspid valve [Term] id: HP:0001705 name: Right ventricular outlet obstruction namespace: medical_genetics is_a: HP:0001707 ! Right ventricular abnormality [Term] id: HP:0001706 name: Endocardial fibroelastosis namespace: medical_genetics is_a: HP:0001671 ! Abnormality of the cardiac septa [Term] id: HP:0001707 name: Right ventricular abnormality namespace: medical_genetics is_a: HP:0001713 ! Abnormality of the cardiac ventricles [Term] id: HP:0001708 name: Right ventricular failure namespace: medical_genetics is_a: HP:0001707 ! Right ventricular abnormality [Term] id: HP:0001709 name: Complete heart block namespace: medical_genetics is_a: HP:0001668 ! Heart block [Term] id: HP:0001710 name: Conotruncal defect namespace: medical_genetics synonym: "Conotruncal heart defects" EXACT [] is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001711 name: Left ventricular abnormality namespace: medical_genetics is_a: HP:0001713 ! Abnormality of the cardiac ventricles [Term] id: HP:0001712 name: Left ventricular hypertrophy namespace: medical_genetics is_a: HP:0001711 ! Left ventricular abnormality is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0001713 name: Abnormality of the cardiac ventricles namespace: medical_genetics is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0001714 name: Ventricular hypertrophy namespace: medical_genetics is_a: HP:0001713 ! Abnormality of the cardiac ventricles [Term] id: HP:0001715 name: Atrial fibrillation, isolated namespace: medical_genetics is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0001716 name: Wolf-Parkinson-White syndrome namespace: medical_genetics is_a: HP:0004309 ! Pre-excitation syndromes [Term] id: HP:0001717 name: Coronary artery calcification namespace: medical_genetics is_a: HP:0006704 ! Abnormality of the coronary arteries [Term] id: HP:0001718 name: Mitral stenosis namespace: medical_genetics alt_id: HP:0005163 synonym: "Mitral valve stenosis" EXACT [] is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0001719 name: Double outlet right ventricle namespace: medical_genetics synonym: "Double-outlet right ventricle" EXACT [] is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0001721 name: Irregular heart beat namespace: medical_genetics synonym: "Irregular heartbeat" EXACT [] is_a: HP:0001665 ! Heart rhythm disorders [Term] id: HP:0001722 name: High-output congestive heart failure namespace: medical_genetics def: "A form of heart failure characterized by elevated cardiac output. This may be seen in patients with heart failure and hyperthyroidism, anemia, pregnancy, arteriovenous fistulae, and others." [HPO:curators] is_a: HP:0001635 ! Congestive heart failure [Term] id: HP:0001723 name: Restrictive cardiomyopathy namespace: medical_genetics is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0001724 name: Aortic dilatation namespace: medical_genetics is_a: HP:0001679 ! Abnormalities of the aorta [Term] id: HP:0001725 name: Dilated cardiomyopathy (infancy) namespace: medical_genetics synonym: "Dilated cardiomyopathy, early onset" EXACT [] is_a: HP:0001644 ! Dilated cardiomyopathy [Term] id: HP:0001726 name: Increased prevalence of valvular disease namespace: medical_genetics is_a: HP:0001654 ! Abnormality of the heart valves [Term] id: HP:0001727 name: Thromboembolic stroke may occur namespace: medical_genetics is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0001728 name: Congenital deafness namespace: medical_genetics is_a: HP:0001729 ! Congenital hearing loss [Term] id: HP:0001729 name: Congenital hearing loss namespace: medical_genetics is_a: HP:0000365 ! Hearing loss [Term] id: HP:0001730 name: Progressive hearing loss namespace: medical_genetics is_a: HP:0000365 ! Hearing loss [Term] id: HP:0001731 name: Deafness, prelingual, profound (affects all frequencies) namespace: medical_genetics synonym: "Deafness, prelingual, profound" EXACT [] synonym: "Hearing loss, profound prelingual sensorineural" EXACT [] is_a: HP:0000404 ! Deafness [Term] id: HP:0001732 name: Abnormality of the pancreas namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0001733 name: Pancreatitis namespace: medical_genetics is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0001734 name: Annular pancreas namespace: medical_genetics is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0001735 name: Pancreatitis, acute namespace: medical_genetics is_a: HP:0001733 ! Pancreatitis [Term] id: HP:0001736 name: Islet cell hyperplasia, diffuse namespace: medical_genetics is_a: HP:0004510 ! Islets of Langerhans hyperplasia [Term] id: HP:0001737 name: Pancreatic cysts namespace: medical_genetics synonym: "Multiple pancreatic cysts" EXACT [] is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0001738 name: Exocrine pancreatic insufficiency namespace: medical_genetics is_a: HP:0002581 ! Pancreatic insufficiency [Term] id: HP:0001739 name: Abnormality of the nasopharynx namespace: medical_genetics comment: The nasopharynx (nasal part of the pharynx) lies behind the nose and above the level of the soft palate. is_a: HP:0000600 ! Abnormality of the pharynx [Term] id: HP:0001740 name: Frequent upper respiratory tract infections namespace: medical_genetics synonym: "Frequent upper respiratory infections" EXACT [] synonym: "Recurrent upper respiratory and lower respiratory infections" EXACT [] is_a: HP:0001739 ! Abnormality of the nasopharynx [Term] id: HP:0001741 name: Phimosis namespace: medical_genetics is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0001742 name: Nasal obstruction leading to mouth breathing namespace: medical_genetics is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0001743 name: Abnormality of the spleen namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0001744 name: Splenomegaly namespace: medical_genetics is_a: HP:0001743 ! Abnormality of the spleen is_a: HP:0003271 ! Visceromegaly [Term] id: HP:0001745 name: Mild splenomegaly namespace: medical_genetics is_a: HP:0001744 ! Splenomegaly [Term] id: HP:0001746 name: Asplenia namespace: medical_genetics is_a: HP:0001743 ! Abnormality of the spleen [Term] id: HP:0001747 name: Accessory spleen namespace: medical_genetics def: "An accessory spleen is a round, iso-echogenic, homogenic and smooth structure and is seen as a normal varient mostly on the medial contour of the spleen, near the hilus or around the lower pole. This has no pathogenic relevance." [HPO:curators] synonym: "Supernumerary spleen" EXACT [] is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001748 name: Polysplenia namespace: medical_genetics alt_id: HP:0001749 alt_id: HP:0006271 alt_id: HP:0006272 def: "Polysplenia is a congenital disease manifested by multiple small accessory spleens." [HPO:curators] synonym: "Accessory spleens" EXACT [] synonym: "Multiple accessory spleens" EXACT [] is_a: HP:0009799 ! Supernumerary spleens [Term] id: HP:0001750 name: Single ventricle namespace: medical_genetics is_a: HP:0001713 ! Abnormality of the cardiac ventricles [Term] id: HP:0001751 name: Vestibular dysfunction namespace: medical_genetics synonym: "Impaired vestibular function" EXACT [] synonym: "Vestibular function defect" EXACT [] is_a: HP:0000359 ! Abnormality of the inner ear [Term] id: HP:0001753 name: Nerve deafness namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0001754 name: Sensorineural, conductive, or mixed hearing loss namespace: medical_genetics is_a: HP:0000365 ! Hearing loss [Term] id: HP:0001755 name: Large, protruding ears namespace: medical_genetics synonym: "Large protruding ears" EXACT [] is_a: HP:0000400 ! Large ears is_a: HP:0000411 ! Protruding ears [Term] id: HP:0001756 name: Vestibular hypofunction namespace: medical_genetics is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0001757 name: High-tone sensorineural deafness namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0001758 name: Overfolded ears namespace: medical_genetics is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0001759 name: Malformed ossicles namespace: medical_genetics synonym: "Ossicular malformation" EXACT [] is_a: HP:0000359 ! Abnormality of the inner ear [Term] id: HP:0001760 name: Abnormality of the feet namespace: medical_genetics synonym: "Foot deformities" EXACT [] synonym: "Foot deformity" EXACT [] is_a: HP:0002814 ! Abnormality of the lower limbs [Term] id: HP:0001761 name: Pes cavus namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001762 name: Talipes equinovarus namespace: medical_genetics 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 [] is_a: HP:0001883 ! Talipes [Term] id: HP:0001763 name: Pes planus namespace: medical_genetics synonym: "Flat feet" EXACT [] is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001764 name: Small feet namespace: medical_genetics is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001765 name: Hammer toes namespace: medical_genetics synonym: "Hammer toe" EXACT [] synonym: "Hammertoes" EXACT [] is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001766 name: Short feet namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001767 name: Short toes namespace: medical_genetics is_a: HP:0004701 ! Hypoplastic toes [Term] id: HP:0001768 name: Metatarsus adductus namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones [Term] id: HP:0001769 name: Broad feet namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001770 name: Toe syndactyly namespace: medical_genetics alt_id: HP:0001828 synonym: "Syndactyly (feet)" EXACT [] synonym: "Syndactyly of toes" EXACT [] is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001771 name: Achilles tendon contractures namespace: medical_genetics synonym: "Contractures of the achilles tendon" EXACT [] is_a: HP:0005109 ! Abnormality of the Achilles tendon is_a: HP:0008366 ! Contractures involving the joints of the feet [Term] id: HP:0001772 name: Talipes equinovalgus namespace: medical_genetics is_a: HP:0001883 ! Talipes [Term] id: HP:0001773 name: Short, broad feet namespace: medical_genetics alt_id: HP:0001778 def: "Abnormally short and wide feet." [HPO:curators] synonym: "Short broad feet" EXACT [] is_a: HP:0001766 ! Short feet is_a: HP:0001769 ! Broad feet is_a: HP:0001772 ! Talipes equinovalgus [Term] id: HP:0001775 name: Tarsal osteovalgus namespace: medical_genetics is_a: HP:0001850 ! Abnormalities of the tarsal bones [Term] id: HP:0001776 name: Bilateral club feet namespace: medical_genetics synonym: "Bilateral clubfeet" EXACT [] synonym: "Bilateral clubfoot" EXACT [] is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0001779 name: Shortened metatarsals namespace: medical_genetics synonym: "Short metatarsal" EXACT [] synonym: "Short metatarsals" EXACT [] is_a: HP:0005754 ! Hypoplastic metatarsals [Term] id: HP:0001780 name: Abnormality of the toes namespace: medical_genetics synonym: "Abnormalities of the toes" EXACT [] is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001781 name: Short, broad toes namespace: medical_genetics is_a: HP:0001767 ! Short toes [Term] id: HP:0001782 name: 'Tree-frog' feet namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001783 name: Broad metatarsals namespace: medical_genetics is_a: HP:0001769 ! Broad feet [Term] id: HP:0001784 name: Duplicated halluces namespace: medical_genetics alt_id: HP:0005785 alt_id: HP:0005851 synonym: "Duplication of great toes" EXACT [] synonym: "Hallucal duplication" EXACT [] is_a: HP:0001844 ! Abnormalities of the big toes is_a: HP:0009135 ! Duplication of bones of the toes [Term] id: HP:0001785 name: Ankle swelling namespace: medical_genetics is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0001786 name: Slender feet namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001787 name: Abnormal delivery namespace: medical_genetics is_a: HP:0001197 ! Prenatal manifestations and birth abnormalities [Term] id: HP:0001788 name: Premature rupture of membranes namespace: medical_genetics alt_id: HP:0002163 is_a: HP:0001787 ! Abnormal delivery [Term] id: HP:0001789 name: Hydrops fetalis namespace: medical_genetics is_a: HP:0001197 ! Prenatal manifestations and birth abnormalities [Term] id: HP:0001790 name: Nonimmune hydrops fetalis namespace: medical_genetics synonym: "Hydrops fetalis, non-immune" EXACT [] synonym: "Hydrops fetalis, nonimmune" EXACT [] synonym: "Non-immune fetal hydrops" EXACT [] synonym: "Nonimmune hydrops" EXACT [] is_a: HP:0001789 ! Hydrops fetalis [Term] id: HP:0001791 name: Fetal ascites namespace: medical_genetics is_a: HP:0001197 ! Prenatal manifestations and birth abnormalities [Term] id: HP:0001792 name: Hypoplastic nails namespace: medical_genetics synonym: "Fingernail hypoplasia" EXACT [] synonym: "Hypoplastic nail" EXACT [] synonym: "Nail hypoplasia" EXACT [] is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0001794 name: Dystrophic nails namespace: medical_genetics alt_id: HP:0001793 synonym: "Nail dystrophy" EXACT [] synonym: "Onychodystrophy" EXACT [] is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001795 name: Hyperconvex nails namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001798 name: Anonychia namespace: medical_genetics synonym: "Absent nails" EXACT [] is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001799 name: Short nails namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001800 name: Hypoplastic toenails namespace: medical_genetics is_a: HP:0001792 ! Hypoplastic nails [Term] id: HP:0001801 name: Longitudinal ridging namespace: medical_genetics is_a: HP:0001807 ! Nail ridging [Term] id: HP:0001802 name: Absent toenails namespace: medical_genetics is_a: HP:0001798 ! Anonychia [Term] id: HP:0001803 name: Nail pitting namespace: medical_genetics synonym: "Nail pits" EXACT [] synonym: "Pitted nails" EXACT [] is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001804 name: Hypoplastic fingernails namespace: medical_genetics is_a: HP:0001792 ! Hypoplastic nails [Term] id: HP:0001805 name: Thickened nails namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001806 name: Onycholysis namespace: medical_genetics comment: Oncholysis appears to be a misspelling of onycholysis. synonym: "Oncholysis" EXACT [] is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001807 name: Nail ridging namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001808 name: Fragile nails namespace: medical_genetics alt_id: HP:0001796 synonym: "Brittle nails" EXACT [] is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001809 name: Longitudinal splitting namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001810 name: Dystrophic toenails namespace: medical_genetics synonym: "Dystrophic toenail changes" EXACT [] is_a: HP:0001794 ! Dystrophic nails [Term] id: HP:0001811 name: Grooved nails namespace: medical_genetics is_a: HP:0001807 ! Nail ridging [Term] id: HP:0001812 name: Hyperconvex fingernails namespace: medical_genetics is_a: HP:0001795 ! Hyperconvex nails [Term] id: HP:0001813 name: Small nails namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001814 name: Thin, deep-set nails namespace: medical_genetics is_a: HP:0001816 ! Thin nails [Term] id: HP:0001816 name: Thin nails namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001817 name: Absent fingernails namespace: medical_genetics is_a: HP:0001798 ! Anonychia [Term] id: HP:0001818 name: Paronychia namespace: medical_genetics is_a: HP:0001817 ! Absent fingernails [Term] id: HP:0001819 name: Onychogryposis namespace: medical_genetics is_a: HP:0001818 ! Paronychia [Term] id: HP:0001820 name: Leukonychia namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001821 name: Broad nails namespace: medical_genetics synonym: "Broad fingernails" EXACT [] is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0001822 name: Hallux valgus namespace: medical_genetics is_a: HP:0001844 ! Abnormalities of the big toes [Term] id: HP:0001823 name: Low weight namespace: medical_genetics synonym: "Low body weight" EXACT [] is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001824 name: Weight loss namespace: medical_genetics is_a: HP:0001823 ! Low weight [Term] id: HP:0001826 name: Weight less than 3rd percentile namespace: medical_genetics synonym: "Birthweight < 3rd percentile" EXACT [] is_a: HP:0004325 ! Decreased body weight [Term] id: HP:0001827 name: Genital atresia namespace: medical_genetics is_a: HP:0000078 ! Abnormality of the genital tract created_by: peter creation_date: 2008-02-27T04:08:00Z [Term] id: HP:0001829 name: Polydactyly (feet) namespace: medical_genetics is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001830 name: Postaxial polydactyly (feet) namespace: medical_genetics synonym: "Postaxial polydactyly of feet" EXACT [] is_a: HP:0001829 ! Polydactyly (feet) [Term] id: HP:0001831 name: Brachydactyly (feet) namespace: medical_genetics is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001832 name: Abnormalities of the metatarsal bones namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001833 name: Large feet namespace: medical_genetics alt_id: HP:0008136 alt_id: HP:0008143 synonym: "Disproportionately large feet" EXACT [] synonym: "Relatively large feet" EXACT [] is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001834 name: Broad halluces namespace: medical_genetics synonym: "Broad hallux" EXACT [] is_a: HP:0001844 ! Abnormalities of the big toes [Term] id: HP:0001835 name: Rocker-bottom feet namespace: medical_genetics synonym: "'rocker bottom' feet" EXACT [] synonym: "'rocker-bottom' feet" EXACT [] synonym: "Rocker bottom feet" EXACT [] synonym: "Rockerbottom feet" EXACT [] is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001836 name: Camptodactyly (feet) namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001837 name: Broad toes namespace: medical_genetics is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001838 name: Vertical talus namespace: medical_genetics is_a: HP:0001850 ! Abnormalities of the tarsal bones [Term] id: HP:0001839 name: Ectrodactyly (feet) namespace: medical_genetics alt_id: HP:0003062 alt_id: HP:0005904 def: "A condition in which the middle toe is missing, and the foot is cleft where the metatarsal corresponding to the toe would normally be." [HPO:curators] synonym: "Lobster-claw foot deformity" EXACT [] synonym: "Split foot" EXACT [] synonym: "Split-foot" EXACT [] is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001840 name: Metatarsus varus namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones [Term] id: HP:0001841 name: Preaxial polydactyly (feet) namespace: medical_genetics synonym: "Preaxial polydactyly of feet" EXACT [] synonym: "Preaxial polydactyly, feet" EXACT [] is_a: HP:0001829 ! Polydactyly (feet) [Term] id: HP:0001842 name: Acroosteolysis (feet) namespace: medical_genetics is_a: HP:0009134 ! Osteolysis involving bones of the feet [Term] id: HP:0001843 name: Short halluces namespace: medical_genetics is_a: HP:0001844 ! Abnormalities of the big toes [Term] id: HP:0001844 name: Abnormalities of the big toes namespace: medical_genetics synonym: "Abnormalities of the hallux " EXACT [] is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001845 name: Overriding toes namespace: medical_genetics is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001847 name: Large halluces namespace: medical_genetics is_a: HP:0001844 ! Abnormalities of the big toes [Term] id: HP:0001848 name: Calcaneovalgus deformities namespace: medical_genetics alt_id: HP:0001774 synonym: "Calcaneovalgus" EXACT [] is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0001849 name: Oligodactyly (feet) namespace: medical_genetics alt_id: HP:0001777 synonym: "Missing toes" EXACT [] synonym: "Oligodactyly of feet" EXACT [] is_a: HP:0001991 ! Aplasia/Hypoplasia of the toes [Term] id: HP:0001850 name: Abnormalities of the tarsal bones namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001852 name: Gap between first and second toes namespace: medical_genetics synonym: "'sandal gap' between first and second toes" EXACT [] synonym: "Gap between 1st and 2nd toes" EXACT [] synonym: "Gap between first and second toe" EXACT [] synonym: "Increased space between first and second toes" EXACT [] synonym: "Space between great toe and second toe" EXACT [] synonym: "Wide space between 1st, 2nd ties" EXACT [] synonym: "Wide space between first and second toes" EXACT [] synonym: "Widely spaced 1st-2nd toes" EXACT [] synonym: "Widely spaced first and second toes" EXACT [] synonym: "Widened gap 1st-2nd toes" EXACT [] synonym: "Widened gap first and second toe" EXACT [] is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001853 name: Bifid terminal phalanges (feet) namespace: medical_genetics is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001854 name: Gout (feet) namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001855 name: Short phalanges (feet) namespace: medical_genetics is_a: HP:0001767 ! Short toes [Term] id: HP:0001857 name: Hypoplastic distal phalanges (feet) namespace: medical_genetics is_a: HP:0001991 ! Aplasia/Hypoplasia of the toes [Term] id: HP:0001858 name: Tarsal osteolysis namespace: medical_genetics synonym: "Tarsal bone osteolysis" EXACT [] is_a: HP:0006234 ! Osteolysis involving tarsal bones [Term] id: HP:0001859 name: Distal symphalangism (feet) namespace: medical_genetics is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001860 name: Toe contractures namespace: medical_genetics is_a: HP:0008367 ! Contractures involving the toes [Term] id: HP:0001861 name: Short, broad halluces namespace: medical_genetics is_a: HP:0001834 ! Broad halluces is_a: HP:0001843 ! Short halluces [Term] id: HP:0001862 name: Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001863 name: Clinodactyly (feet) namespace: medical_genetics is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0001864 name: Fifth toe clinodactyly namespace: medical_genetics is_a: HP:0001863 ! Clinodactyly (feet) [Term] id: HP:0001865 name: Short, broad metatarsals namespace: medical_genetics synonym: "Short, broad metatarsal" EXACT [] is_a: HP:0001779 ! Shortened metatarsals [Term] id: HP:0001866 name: Metatarsal osteolysis namespace: medical_genetics is_a: HP:0001473 ! Osteolysis involving metatarsal bones [Term] id: HP:0001867 name: Long halluces namespace: medical_genetics is_a: HP:0001844 ! Abnormalities of the big toes [Term] id: HP:0001868 name: Autoamputation (feet) namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001869 name: Deep plantar creases namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001870 name: Acroosteolysis of distal phalanges (feet) namespace: medical_genetics is_a: HP:0001842 ! Acroosteolysis (feet) [Term] id: HP:0001871 name: Hematological abnormality namespace: medical_genetics is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0001872 name: Abnormality of thrombocytes namespace: medical_genetics alt_id: HP:0005554 synonym: "Platelet abnormalities" EXACT [] is_a: HP:0001871 ! Hematological abnormality [Term] id: HP:0001873 name: Thrombocytopenia namespace: medical_genetics is_a: HP:0001872 ! Abnormality of thrombocytes is_a: HP:0003135 ! Abnormal hematological laboratory findings [Term] id: HP:0001874 name: Abnormality of neutrophil namespace: medical_genetics is_a: HP:0001911 ! Abnormality of granulocytes [Term] id: HP:0001875 name: Neutropenia namespace: medical_genetics is_a: HP:0001874 ! Abnormality of neutrophil is_a: HP:0002715 ! Immunological abnormality [Term] id: HP:0001876 name: Pancytopenia namespace: medical_genetics is_a: HP:0001873 ! Thrombocytopenia is_a: HP:0001882 ! Leukopenia is_a: HP:0001888 ! Lymphopenia is_a: HP:0001903 ! Anemia [Term] id: HP:0001877 name: Abnormality of erythrocytes namespace: medical_genetics is_a: HP:0001871 ! Hematological abnormality [Term] id: HP:0001878 name: Hemolytic anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0001879 name: Abnormality of eosinophils namespace: medical_genetics is_a: HP:0001911 ! Abnormality of granulocytes [Term] id: HP:0001880 name: Eosinophilia namespace: medical_genetics is_a: HP:0001879 ! Abnormality of eosinophils [Term] id: HP:0001881 name: Abnormality of leukocytes namespace: medical_genetics synonym: "Abnormal leukocyte function" EXACT [] is_a: HP:0001871 ! Hematological abnormality [Term] id: HP:0001882 name: Leukopenia namespace: medical_genetics is_a: HP:0001881 ! Abnormality of leukocytes [Term] id: HP:0001883 name: Talipes namespace: medical_genetics comment: Talipes means (a deformity of) foot and ankle. There are four types of talipes.\n1) Talipes equinovarus - the foot is pointing inwards and down (the most common form)\n2) Talipes equinovalgus - where the foot points outwards and down\n3) Talipes calcaneovarus - where the foot points inwards and up\n4) Talipes calcaneovalgus - where the foot points inwards and down. is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001884 name: Talipes calcaneovalgus namespace: medical_genetics synonym: "Pes calcaneovarus" EXACT [] is_a: HP:0001883 ! Talipes [Term] id: HP:0001885 name: Brachydactyly (2nd-5th toes) namespace: medical_genetics synonym: "Brachydactyly, toes 2,4, and 5" EXACT [] is_a: HP:0001831 ! Brachydactyly (feet) [Term] id: HP:0001886 name: Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0001888 name: Lymphopenia namespace: medical_genetics is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0001889 name: Megaloblastic anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0001890 name: Autoimmune hemolytic anemia namespace: medical_genetics synonym: "Hemolytic anemia, autoimmune" EXACT [] is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001891 name: Iron deficiency anemia namespace: medical_genetics synonym: "Iron-deficiency anemia" EXACT [] is_a: HP:0001903 ! Anemia [Term] id: HP:0001892 name: Bleeding diathesis namespace: medical_genetics synonym: "Bleeding" EXACT [] synonym: "Bleeding tendency" EXACT [] is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0001894 name: Thrombocytosis namespace: medical_genetics is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0001895 name: Normochromic anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0001896 name: Reticulocytopenia namespace: medical_genetics is_a: HP:0004312 ! Abnormality of reticulocytes [Term] id: HP:0001897 name: Normocytic anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0001898 name: Increased red blood cell mass namespace: medical_genetics is_a: HP:0001901 ! Erythrocytosis [Term] id: HP:0001899 name: Increased hematocrit namespace: medical_genetics is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0001900 name: Increased hemoglobin namespace: medical_genetics is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0001901 name: Erythrocytosis namespace: medical_genetics alt_id: HP:0001893 synonym: "Polycythemia" EXACT [] is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0001902 name: Giant platelets namespace: medical_genetics is_a: HP:0001872 ! Abnormality of thrombocytes is_a: HP:0003135 ! Abnormal hematological laboratory findings [Term] id: HP:0001903 name: Anemia namespace: medical_genetics is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0001904 name: Autoimmune neutropenia namespace: medical_genetics is_a: HP:0001875 ! Neutropenia [Term] id: HP:0001905 name: Congenital thrombocytopenia namespace: medical_genetics is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0001906 name: Mild thrombocytopenia namespace: medical_genetics is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0001907 name: Thromboembolism namespace: medical_genetics synonym: "Thromboembolic disease" EXACT [] synonym: "Thromboembolic events" EXACT [] is_a: HP:0001872 ! Abnormality of thrombocytes is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0001908 name: Hypoplastic anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0001909 name: Leukemia namespace: medical_genetics is_a: HP:0001881 ! Abnormality of leukocytes is_a: HP:0004377 ! Hematological cancer [Term] id: HP:0001910 name: Mild hemolytic anemia namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001911 name: Abnormality of granulocytes namespace: medical_genetics alt_id: HP:0005438 synonym: "Abnormality of neutrophils" EXACT [] is_a: HP:0001881 ! Abnormality of leukocytes [Term] id: HP:0001912 name: Abnormality of basophils namespace: medical_genetics is_a: HP:0001911 ! Abnormality of granulocytes [Term] id: HP:0001913 name: Granulocytopenia namespace: medical_genetics is_a: HP:0001911 ! Abnormality of granulocytes [Term] id: HP:0001914 name: Acute myeloblastic leukemia namespace: medical_genetics is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0001915 name: Aplastic anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0001916 name: Sensorineural hearing loss (in some cases) namespace: medical_genetics synonym: "Sensorineural hearing loss has been reported" EXACT [] is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0001917 name: Renal amyloidosis namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0001918 name: Renal insufficiency, progressive namespace: medical_genetics is_a: HP:0000087 ! Impaired renal function [Term] id: HP:0001919 name: Acute renal failure namespace: medical_genetics is_a: HP:0000083 ! Renal failure [Term] id: HP:0001920 name: Renal artery stenosis namespace: medical_genetics is_a: HP:0002620 ! Arterial abnormalities is_a: HP:0008776 ! Abnormality of the renal artery [Term] id: HP:0001922 name: Vacuolated lymphocytes namespace: medical_genetics is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0001923 name: Reticulocytosis namespace: medical_genetics synonym: "Increased reticulocyte count" EXACT [] synonym: "Increased reticulocytes" EXACT [] is_a: HP:0003135 ! Abnormal hematological laboratory findings is_a: HP:0004312 ! Abnormality of reticulocytes [Term] id: HP:0001924 name: Sideroblastic anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0001925 name: Coagulopathy namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0001926 name: Mild anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0001927 name: Acanthocytes namespace: medical_genetics alt_id: HP:0005552 synonym: "Red cell acanthocytosis" EXACT [] is_a: HP:0001877 ! Abnormality of erythrocytes is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0001928 name: Abnormality of coagulation namespace: medical_genetics synonym: "Abnormal blood coagulation studies" EXACT [] synonym: "Coagulation abnormalities" EXACT [] synonym: "Coagulation abnormality" EXACT [] is_a: HP:0001871 ! Hematological abnormality is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0001929 name: Factor XI deficiency namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0001930 name: Nonspherocytic hemolytic anemia namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001931 name: Hypochromic anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0001932 name: Leukocyte inclusion bodies (Dohle-like bodies) namespace: medical_genetics synonym: "Leukocyte inclusion bodies" EXACT [] is_a: HP:0001881 ! Abnormality of leukocytes [Term] id: HP:0001933 name: Subcutaneous hemorrhage namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality created_by: peter creation_date: 2008-02-28T07:14:00Z [Term] id: HP:0001934 name: Persistent bleeding after trauma namespace: medical_genetics synonym: "Excessive bleeding after minor trauma" EXACT [] synonym: "Prolonged bleeding after minor trauma" EXACT [] is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0001935 name: Microcytic anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0001936 name: Idiopathic thrombocytopenia namespace: medical_genetics is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0001937 name: Microangiopathic hemolytic anemia namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0001939 name: Metabolism abnormality namespace: medical_genetics alt_id: HP:0002146 synonym: "Laboratory abnormality" EXACT [] is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0001941 name: Acidosis namespace: medical_genetics alt_id: HP:0001940 is_a: HP:0004360 ! Abnormality of acid-base metabolism [Term] id: HP:0001942 name: Metabolic acidosis namespace: medical_genetics is_a: HP:0001941 ! Acidosis [Term] id: HP:0001943 name: Hypoglycemia namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0001944 name: Dehydration namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0001945 name: Fever namespace: medical_genetics is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0001946 name: Ketosis namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0001947 name: Renal tubular acidosis namespace: medical_genetics is_a: HP:0001941 ! Acidosis [Term] id: HP:0001948 name: Alkalosis namespace: medical_genetics is_a: HP:0004360 ! Abnormality of acid-base metabolism [Term] id: HP:0001949 name: Hypokalemic alkalosis namespace: medical_genetics is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001950 name: Respiratory alkalosis namespace: medical_genetics is_a: HP:0001948 ! Alkalosis [Term] id: HP:0001951 name: Episodic ammonia intoxication namespace: medical_genetics is_a: HP:0004364 ! Abnormality of ammonia metabolism [Term] id: HP:0001952 name: Abnormal glucose tolerance namespace: medical_genetics synonym: "Glucose tolerance decreased" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0001953 name: Diabetic ketosis namespace: medical_genetics is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0001954 name: Fever, episodic namespace: medical_genetics alt_id: HP:0005966 alt_id: HP:0005980 def: "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators] synonym: "Hyperthermia, episodic" EXACT [] synonym: "Intermittent fever" EXACT [] is_a: HP:0001945 ! Fever [Term] id: HP:0001955 name: Unexplained fevers namespace: medical_genetics def: "Episodes of fever for which no infectious cause can be identified." [HPO:curators] is_a: HP:0001945 ! Fever [Term] id: HP:0001956 name: Truncal obesity namespace: medical_genetics is_a: HP:0001513 ! Obesity [Term] id: HP:0001958 name: Nonketotic hypoglycemia namespace: medical_genetics is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001959 name: Polydipsia namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0001960 name: Hypokalemic metabolic alkalosis namespace: medical_genetics is_a: HP:0001949 ! Hypokalemic alkalosis [Term] id: HP:0001961 name: Hypoplastic heart namespace: medical_genetics is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0001962 name: Palpitations namespace: medical_genetics is_a: HP:0001665 ! Heart rhythm disorders [Term] id: HP:0001963 name: Abnormal speech discrimination namespace: medical_genetics is_a: HP:0000364 ! Hearing abnormality [Term] id: HP:0001964 name: Aplasia/Hypoplasia of metatarsal bones namespace: medical_genetics synonym: "Absent or hypoplastic metatarsal" EXACT [] synonym: "Absent/hypoplastic metacarpals" EXACT [] synonym: "Aplastic/hypoplastic metatarsals" EXACT [] is_a: HP:0001832 ! Abnormalities of the metatarsal bones is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001965 name: Abnormality of the scalp namespace: medical_genetics is_a: HP:0000234 ! Head abnormality [Term] id: HP:0001966 name: Mesangial abnormality namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0001967 name: Diffuse mesangial sclerosis namespace: medical_genetics synonym: "Mesangial sclerosis" EXACT [] synonym: "Renal biopsy shows diffuse mesangial sclerosis" EXACT [] is_a: HP:0001966 ! Mesangial abnormality [Term] id: HP:0001969 name: Tubulointerstitial abnormality namespace: medical_genetics is_a: HP:0000091 ! Abnormality of the renal tubules [Term] id: HP:0001970 name: Tubulointerstitial nephritis namespace: medical_genetics synonym: "Interstitial nephritis" EXACT [] is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0001971 name: Hypersplenism namespace: medical_genetics is_a: HP:0001743 ! Abnormality of the spleen [Term] id: HP:0001972 name: Macrocytic anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0001973 name: Immune thrombocytopenia namespace: medical_genetics synonym: "Autoimmune thrombocytopenia" EXACT [] is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0001974 name: Leukocytosis namespace: medical_genetics is_a: HP:0001881 ! Abnormality of leukocytes [Term] id: HP:0001975 name: Glanzmann thrombasthenia namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation is_a: HP:0004807 ! thrombasthenia [Term] id: HP:0001976 name: Antithrombin III deficiency namespace: medical_genetics synonym: "Anti-thrombin iii deficiency" EXACT [] synonym: "Decreased antithrombin iii" EXACT [] is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0001977 name: Thrombosis namespace: medical_genetics is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0001978 name: Extramedullary hematopoiesis namespace: medical_genetics is_a: HP:0001871 ! Hematological abnormality [Term] id: HP:0001979 name: Large vacuolated foam cells ('NP cells') on bone marrow biopsy namespace: medical_genetics synonym: "Bone marrow foam cells" EXACT [] synonym: "Large vacuolated foam cells on bone marrow biopsy" EXACT [] is_a: HP:0004333 ! Foam cells on bone marrow biopsy [Term] id: HP:0001980 name: Megaloblastic bone marrow namespace: medical_genetics comment: A megaloblast is an abnormally large nucleated red blood cell found especially in people having pernicious anemia. is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0001981 name: Schistocytes namespace: medical_genetics is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0001982 name: 'Sea-blue' histiocytes namespace: medical_genetics synonym: "'Sea blue' histiocytes" EXACT [] synonym: "Sea-blue histiocyte" EXACT [] is_a: HP:0004310 ! Abnormality of histiocytes [Term] id: HP:0001983 name: CD43 (sialophorin) defectively expressed on surface of blood cells namespace: medical_genetics comment: CD43 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:0001881 ! Abnormality of leukocytes [Term] id: HP:0001984 name: Intolerance to protein namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0001985 name: Hypoketotic hypoglycemia namespace: medical_genetics is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001986 name: Hypertonic dehydration namespace: medical_genetics synonym: "Hyperosmolar dehydration" EXACT [] is_a: HP:0001944 ! Dehydration [Term] id: HP:0001987 name: Hyperammonemia namespace: medical_genetics is_a: HP:0004364 ! Abnormality of ammonia metabolism [Term] id: HP:0001988 name: Recurrent hypoglycemic episodes namespace: medical_genetics synonym: "Hypoglycemic episodes" EXACT [] is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001989 name: Early severe fetal akinesia sequence namespace: medical_genetics is_a: HP:0001558 ! Decreased fetal movement [Term] id: HP:0001990 name: Syndactyly, cutaneous (feet) namespace: medical_genetics is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0001991 name: Aplasia/Hypoplasia of the toes namespace: medical_genetics synonym: "Aplastic/hypoplastic phalanges (feet)" EXACT [] is_a: HP:0001780 ! Abnormality of the toes is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0001992 name: Organic aciduria namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0001993 name: Ketoacidosis namespace: medical_genetics is_a: HP:0001946 ! Ketosis [Term] id: HP:0001994 name: Renal Fanconi syndrome namespace: medical_genetics synonym: "'de toni-fanconi-debre' syndrome" EXACT [] synonym: "Renal tubular fanconi syndrome" EXACT [] is_a: HP:0000082 ! Renal functional abnormality [Term] id: HP:0001995 name: Hyperchloremic acidosis namespace: medical_genetics is_a: HP:0001941 ! Acidosis [Term] id: HP:0001996 name: Chronic metabolic acidosis namespace: medical_genetics is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0001997 name: Gout namespace: medical_genetics is_a: HP:0004368 ! Increased purine levels [Term] id: HP:0001998 name: Neonatal hypoglycemia namespace: medical_genetics is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0001999 name: Facial dysmorphism namespace: medical_genetics comment: This term now covers many of the historical inexact descriptions such as Bird-like facies that probably should be avoided in modern genetics. This portion of the Ontology should be revised. synonym: "Dysmorphic facial features" EXACT [] synonym: "Dysmorphic facies" EXACT [] synonym: "Peculiar facies" EXACT [] is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002000 name: Short columella namespace: medical_genetics def: "Abnormally short columnella (i.e., the fleshy external end of the nasal septum)." [HPO:curators] is_a: HP:0000419 ! Abnormality of the nasal septum [Term] id: HP:0002001 name: Wide-set eyes namespace: medical_genetics is_a: HP:0000316 ! Hypertelorism [Term] id: HP:0002002 name: Deep philtrum namespace: medical_genetics is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0002003 name: Large forehead namespace: medical_genetics is_a: HP:0002007 ! Frontal prominence [Term] id: HP:0002004 name: Unusual facies namespace: medical_genetics comment: Replace these terms with more exact descriptions. synonym: "Distinctive facies" EXACT [] synonym: "Peculiar face" EXACT [] synonym: "Unusual facial appearance" EXACT [] is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0002006 name: Facial cleft namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0002007 name: Frontal prominence namespace: medical_genetics is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0002008 name: Facial paralysis namespace: medical_genetics synonym: "Facial nerve palsy" EXACT [] synonym: "Facial nerve paralysis" EXACT [] is_a: HP:0002517 ! Facial palsy [Term] id: HP:0002009 name: Potter facies namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0002010 name: Narrow maxilla namespace: medical_genetics is_a: HP:0000326 ! Abnormality of the maxilla [Term] id: HP:0002011 name: Abnormality of the central nervous system namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0002012 name: Abnormality of gastrointestinal organs namespace: medical_genetics def: "An abnormality affecting one or more of the stomach, small and large intestines, liver, pancreas, bile tract, and spleen." [HPO:curators] synonym: "Gastrointestinal tract defects" EXACT [] is_a: HP:0001438 ! Abdomen abnormality [Term] id: HP:0002013 name: Vomiting namespace: medical_genetics is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002014 name: Diarrhea namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002015 name: Dysphagia namespace: medical_genetics alt_id: HP:0002569 def: "Difficulty in swallowing." [HPO:curators] synonym: "Poor swallowing" EXACT [] synonym: "Swallowing difficulties" EXACT [] synonym: "Swallowing difficulty" EXACT [] is_a: HP:0000707 ! Neurological abnormality is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0002017 name: Nausea and vomiting namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0002018 name: Nausea namespace: medical_genetics is_a: HP:0002017 ! Nausea and vomiting [Term] id: HP:0002019 name: Constipation namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002020 name: Gastroesophageal reflux namespace: medical_genetics synonym: "Gastroesophageal reflux disease" EXACT [] is_a: HP:0002031 ! Abnormality of the esophagus is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0002021 name: Pyloric stenosis namespace: medical_genetics is_a: HP:0004400 ! Abnormality of the pylorus [Term] id: HP:0002022 name: Feeding difficulties namespace: medical_genetics alt_id: HP:0002016 synonym: "Feeding problems" EXACT [] synonym: "Poor feeding" EXACT [] is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0002023 name: Anal atresia namespace: medical_genetics alt_id: HP:0001550 def: "Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] synonym: "Imperforate anus" RELATED [] is_a: HP:0004378 ! Abnormality of the anus [Term] id: HP:0002024 name: Malabsorption namespace: medical_genetics synonym: "Intestinal malabsorption" EXACT [] is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002025 name: Anal stenosis namespace: medical_genetics def: "Abnormal narrowing of the anal opening." [HPO:curators] is_a: HP:0004378 ! Abnormality of the anus [Term] id: HP:0002027 name: Abdominal pain namespace: medical_genetics is_a: HP:0001438 ! Abdomen abnormality [Term] id: HP:0002028 name: Chronic diarrhea namespace: medical_genetics is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002029 name: Megacolon namespace: medical_genetics is_a: HP:0002251 ! Congenital megacolon [Term] id: HP:0002030 name: Hirschsprung disease namespace: medical_genetics synonym: "Hirschsprung megacolon" EXACT [] is_a: HP:0002251 ! Congenital megacolon [Term] id: HP:0002031 name: Abnormality of the esophagus namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0002032 name: Esophageal atresia namespace: medical_genetics is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0002033 name: Poor suck namespace: medical_genetics is_a: HP:0002022 ! Feeding difficulties [Term] id: HP:0002034 name: Abnormality of the rectum namespace: medical_genetics is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0002035 name: Rectal prolapse namespace: medical_genetics is_a: HP:0002034 ! Abnormality of the rectum [Term] id: HP:0002036 name: Hiatus hernia namespace: medical_genetics synonym: "Hiatal hernia" EXACT [] is_a: HP:0002577 ! Abnormality of the stomach created_by: peter creation_date: 2008-02-20T11:28:00Z [Term] id: HP:0002037 name: Inflammatory bowel disease namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines is_a: HP:0004386 ! Gastrointestinal inflammatory disorder [Term] id: HP:0002038 name: Protein avoidance namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0002039 name: Anorexia namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0002040 name: Esophageal varices namespace: medical_genetics is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0002041 name: Intractable diarrhea namespace: medical_genetics is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002043 name: Esophageal stricture namespace: medical_genetics is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0002044 name: Zollinger-Ellison syndrome namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0002045 name: Hypothermia namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002046 name: Intolerance to heat and fever namespace: medical_genetics synonym: "Intolerance to heat and fevers" EXACT [] is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002047 name: Malignant hyperthermia namespace: medical_genetics alt_id: HP:0004896 def: "Malignant hyperthermia is characterized by a rapid increase in temperature to 39-42 degrees C in response to inhalational anesthetics such as halothane or to muscle relaxants such as succinylcholine." [HPO:curators] synonym: "Malignant hyperthermia +" EXACT [] synonym: "Malignant hyperthermia with anesthesia" EXACT [] is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0002048 name: Renal cortical atrophy namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0002049 name: Proximal renal tubular acidosis namespace: medical_genetics synonym: "Proximal tubular acidosis" EXACT [] synonym: "Renal tubular acidosis, proximal" EXACT [] is_a: HP:0000124 ! Renal tubular dysfunction [Term] id: HP:0002050 name: Macroorchidism, postpubertal namespace: medical_genetics is_a: HP:0000053 ! Macroorchidism [Term] id: HP:0002051 name: Prominent jaw namespace: medical_genetics is_a: HP:0000303 ! Mandibular prognathism [Term] id: HP:0002053 name: Receding chin namespace: medical_genetics is_a: HP:0000331 ! Small chin [Term] id: HP:0002054 name: Heavy supraorbital ridges namespace: medical_genetics is_a: HP:0000336 ! Prominent supraorbital ridges [Term] id: HP:0002055 name: Curved linear dimple below the lower lip namespace: medical_genetics is_a: HP:0000178 ! Abnormality of lower lip [Term] id: HP:0002056 name: Glabellar abnormality namespace: medical_genetics is_a: HP:0000290 ! Abnormality of the forehead [Term] id: HP:0002057 name: Prominent glabella namespace: medical_genetics is_a: HP:0002056 ! Glabellar abnormality [Term] id: HP:0002058 name: Myopathic facies namespace: medical_genetics synonym: "Stiff, myopathic facies" EXACT [] is_a: HP:0002517 ! Facial palsy [Term] id: HP:0002059 name: Cerebral atrophy namespace: medical_genetics alt_id: HP:0001323 synonym: "Brain atrophy" EXACT [] is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0002060 name: Abnormality of the cerebrum namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002061 name: Lower limb spasticity namespace: medical_genetics is_a: HP:0001257 ! Spasticity [Term] id: HP:0002062 name: Abnormality of the pyramidal tracts namespace: medical_genetics synonym: "Pyramidal signs" EXACT [] synonym: "Pyramidal tract disease" EXACT [] synonym: "Pyramidal tract signs" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002063 name: Rigidity namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002064 name: Spastic gait namespace: medical_genetics is_a: HP:0001257 ! Spasticity [Term] id: HP:0002066 name: Gait ataxia namespace: medical_genetics alt_id: HP:0002379 def: "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators] synonym: "Ataxic gait" EXACT [] is_a: HP:0001251 ! Ataxia is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002067 name: Bradykinesia namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002068 name: Dysphagia, neuromuscular namespace: medical_genetics is_a: HP:0002015 ! Dysphagia [Term] id: HP:0002069 name: Generalized tonic-clonic seizures namespace: medical_genetics synonym: "Generalized clonic-tonic seizures" EXACT [] synonym: "Generalized tonic clonic seizures" EXACT [] synonym: "Seizures, generalized tonic-clonic" EXACT [] synonym: "Seizures, generalized, tonic-clonic" EXACT [] synonym: "Seizures, tonic-clonic" EXACT [] is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0002070 name: Limb ataxia namespace: medical_genetics is_a: HP:0001251 ! Ataxia [Term] id: HP:0002071 name: Extrapyramidal signs namespace: medical_genetics synonym: "Extrapyramidal dysfunction" EXACT [] synonym: "Extrapyramidal symptoms" EXACT [] synonym: "Extrapyramidal syndrome" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002072 name: Chorea namespace: medical_genetics alt_id: HP:0002397 def: "Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion." [HPO:curators] synonym: "Choreic movements" EXACT [] synonym: "Choreiform movements" EXACT [] is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0002073 name: Progressive cerebellar ataxia namespace: medical_genetics synonym: "Cerebellar ataxia, progressive" EXACT [] is_a: HP:0001253 ! Cerebellar ataxia [Term] id: HP:0002074 name: Autofluorescent lipopigment in neurons namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0002075 name: Dysdiadochokinesis namespace: medical_genetics alt_id: HP:0002426 def: "An inability 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 [] is_a: HP:0001251 ! Ataxia [Term] id: HP:0002076 name: Migraine namespace: medical_genetics synonym: "Migraine headache" EXACT [] synonym: "Migraine headaches" EXACT [] is_a: HP:0002315 ! Headache [Term] id: HP:0002077 name: Migraine with aura namespace: medical_genetics is_a: HP:0002076 ! Migraine [Term] id: HP:0002078 name: Truncal ataxia namespace: medical_genetics synonym: "Trunk ataxia" EXACT [] is_a: HP:0001251 ! Ataxia [Term] id: HP:0002079 name: Hypoplasia of the corpus callosum namespace: medical_genetics def: "Underdevelopment of the corpus callosum." [HPO:curators] synonym: "Hypoplasia of corpus callosum" EXACT [] synonym: "Hypoplastic of the corpus callosum" EXACT [] synonym: "Small corpus callosum" EXACT [] is_a: HP:0007370 ! Aplasia/Hypoplasia of the corpus callosum [Term] id: HP:0002080 name: Intention tremor namespace: medical_genetics def: "An oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger)." [HPO:curators] is_a: HP:0001337 ! Tremor [Term] id: HP:0002081 name: Memory loss namespace: medical_genetics is_a: HP:0002354 ! Memory impairment [Term] id: HP:0002083 name: Migraine without aura namespace: medical_genetics is_a: HP:0002076 ! Migraine [Term] id: HP:0002084 name: Encephalocele namespace: medical_genetics alt_id: HP:0002736 comment: A congenital gap in the skull that usually results in a protrusion of brain material. synonym: "Cranium bifidum" EXACT [] is_a: HP:0000929 ! Abnormality of the skull is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002085 name: Occipital encephalocele namespace: medical_genetics is_a: HP:0002084 ! Encephalocele [Term] id: HP:0002086 name: Respiratory abnormality namespace: medical_genetics is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0002087 name: Abnormality of the airways namespace: medical_genetics is_a: HP:0002086 ! Respiratory abnormality [Term] id: HP:0002088 name: Abnormality of the lungs namespace: medical_genetics is_a: HP:0002086 ! Respiratory abnormality [Term] id: HP:0002089 name: Pulmonary hypoplasia namespace: medical_genetics synonym: "Hypoplastic lung" EXACT [] synonym: "Hypoplastic lungs" EXACT [] synonym: "Lung hypoplasia" EXACT [] is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0002090 name: Pneumonia namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0002091 name: Restrictive lung disease namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0002092 name: Pulmonary hypertension namespace: medical_genetics synonym: "Pulmonary artery hypertension" EXACT [] is_a: HP:0002088 ! Abnormality of the lungs is_a: HP:0002620 ! Arterial abnormalities is_a: HP:0004958 ! increased pulmonary artery pressure [Term] id: HP:0002093 name: Respiratory insufficiency namespace: medical_genetics synonym: "Pulmonary insufficiency" EXACT [] synonym: "Respiratory failure" EXACT [] synonym: "Respiratory impairment" EXACT [] is_a: HP:0002088 ! Abnormality of the lungs is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002094 name: Dyspnea namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0002095 name: Recurrent pneumonia namespace: medical_genetics synonym: "Multiple pulmonary infections" EXACT [] synonym: "Pulmonary infection" EXACT [] synonym: "Pulmonary infections" EXACT [] synonym: "Recurrent pulmonary infections" EXACT [] is_a: HP:0002090 ! Pneumonia [Term] id: HP:0002096 name: Pneumonia due to immunodeficiency namespace: medical_genetics is_a: HP:0002090 ! Pneumonia [Term] id: HP:0002097 name: Emphysema namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0002098 name: Respiratory distress namespace: medical_genetics is_a: HP:0002094 ! Dyspnea [Term] id: HP:0002099 name: Asthma namespace: medical_genetics alt_id: HP:0002112 def: "Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing." [HPO:curators] synonym: "Bronchial asthma" EXACT [] is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0002100 name: Aspiration pneumonia namespace: medical_genetics is_a: HP:0002090 ! Pneumonia [Term] id: HP:0002101 name: Abnormal lung lobation namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0002102 name: Pleuritis namespace: medical_genetics is_a: HP:0002103 ! Abnormality of the pleura [Term] id: HP:0002103 name: Abnormality of the pleura namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0002104 name: Apnea namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002105 name: Hemoptysis namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0002106 name: Recurrent aspiration pneumonia namespace: medical_genetics is_a: HP:0002100 ! Aspiration pneumonia [Term] id: HP:0002107 name: Pneumothorax namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0002108 name: Spontaneous pneumothorax namespace: medical_genetics is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0002109 name: Abnormality of the bronchi namespace: medical_genetics is_a: HP:0005607 ! Abnormality of the tracheobronchial system [Term] id: HP:0002110 name: Bronchiectasis namespace: medical_genetics is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0002111 name: Restrictive respiratory insufficiency namespace: medical_genetics synonym: "Pulmonary function tests show restrictive deficit" EXACT [] synonym: "Restrictive respiratory disease" EXACT [] synonym: "Restrictive respiratory syndrome" EXACT [] is_a: HP:0002091 ! Restrictive lung disease [Term] id: HP:0002113 name: Pulmonary infiltrates namespace: medical_genetics synonym: "Pulmonic infiltration" EXACT [] is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0002114 name: Pulmonary arteriovenous malformation (PAVM), especially lower lobes namespace: medical_genetics is_a: HP:0006548 ! Pulmonary arteriovenous malformation [Term] id: HP:0002115 name: Sparse or absent hair namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002116 name: Deficiency of speech development namespace: medical_genetics synonym: "Impaired speech development" EXACT [] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002117 name: Speech delay namespace: medical_genetics synonym: "Delayed speech development" EXACT [] is_a: HP:0002116 ! Deficiency of speech development [Term] id: HP:0002118 name: Abnormality of the cerebral ventricles namespace: medical_genetics def: "Abnormality of the brain ventricles, which make up a system of four communicating cavities within the brain that are continuous with the central canal of the spinal cord." [HPO:curators] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002119 name: Ventriculomegaly namespace: medical_genetics synonym: "Cerebral ventricular dilatation" EXACT [] synonym: "Dilated cerebral ventricles" EXACT [] synonym: "Enlarged cerebral ventricles" EXACT [] is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002120 name: Cerebral cortical atrophy namespace: medical_genetics synonym: "Cerebral cortex atrophy" EXACT [] synonym: "Cortical atrophy" EXACT [] synonym: "Neuroimaging shows cortical atrophy" EXACT [] is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0002121 name: Absence seizures namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002122 name: Mental retardation, mild to moderate namespace: medical_genetics alt_id: HP:0002192 synonym: "mild to moderate mental retardation" EXACT [] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002123 name: Myoclonic seizures namespace: medical_genetics def: "Myoclonic seizures are sudden, brief losses of consciousness and postural tone not associated with tonic muscular contractions. Myoclonic seizures may involve one body part or the entire body. In the latter case, the myoclonic seizure is accompanied by a violent fall but not by loss of consciousness." [HPO:curators] is_a: HP:0001250 ! Seizures [Term] id: HP:0002124 name: Hypotonic seizures namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002125 name: Seizures usually last less than 15 minutes namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002126 name: Polymicrogyria namespace: medical_genetics def: "A congenital abnormality of the cerebral hemisphere chacterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] is_a: HP:0002536 ! Abnormal cortical gyration [Term] id: HP:0002127 name: Upper motor neuron abnormality namespace: medical_genetics synonym: "Upper motor neuron disorder" EXACT [] synonym: "Upper motor neuron signs" EXACT [] is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0002128 name: Cognitive impairment namespace: medical_genetics synonym: "Intellectual impairment" EXACT [] synonym: "Mental impairment" EXACT [] is_a: HP:0001267 ! Mental deficiency [Term] id: HP:0002129 name: Cognitive impairment, mild namespace: medical_genetics is_a: HP:0002128 ! Cognitive impairment [Term] id: HP:0002130 name: Delayed motor milestones namespace: medical_genetics is_a: HP:0001307 ! Locomotor delay is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0002131 name: Ataxia, episodic namespace: medical_genetics is_a: HP:0001251 ! Ataxia [Term] id: HP:0002132 name: Porencephaly namespace: medical_genetics comment: A cyst or cavity in a cerebral hemisphere. is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002133 name: Status epilepticus namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002134 name: Abnormality of the basal ganglia namespace: medical_genetics is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002135 name: Basal ganglia calcifications namespace: medical_genetics synonym: "Basal ganglia calcification" EXACT [] synonym: "Basal ganglion calcification" EXACT [] synonym: "Calcification of the basal ganglia" EXACT [] is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0006952 ! Structural abnormalities in the basal ganglia [Term] id: HP:0002136 name: Broad-based gait namespace: medical_genetics synonym: "Wide-based gait" EXACT [] is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002138 name: Subarachnoid hemorrhage namespace: medical_genetics is_a: HP:0001342 ! Cerebral hemorrhage [Term] id: HP:0002139 name: Arrhinencephaly namespace: medical_genetics is_a: HP:0002323 ! Anencephaly [Term] id: HP:0002140 name: Ischemic stroke namespace: medical_genetics is_a: HP:0001297 ! Stroke [Term] id: HP:0002141 name: Gait imbalance namespace: medical_genetics is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002142 name: Gait ataxia, progressive namespace: medical_genetics is_a: HP:0002066 ! Gait ataxia [Term] id: HP:0002143 name: Abnormality of the spinal cord and vertebral column namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002144 name: Tethered cord namespace: medical_genetics is_a: HP:0002143 ! Abnormality of the spinal cord and vertebral column [Term] id: HP:0002145 name: Frontotemporal dementia namespace: medical_genetics is_a: HP:0000726 ! Dementia [Term] id: HP:0002147 name: Increased serum creatine kinase namespace: medical_genetics synonym: "Elevated creatine kinase" EXACT [] synonym: "Increased serum ck" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0002148 name: Hypophosphatemia namespace: medical_genetics is_a: HP:0003253 ! Electrolyte disorders [Term] id: HP:0002149 name: Hyperuricemia namespace: medical_genetics is_a: HP:0004368 ! Increased purine levels [Term] id: HP:0002150 name: Hypercalciuria namespace: medical_genetics synonym: "Hypercalcinuria" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0002151 name: Increased serum lactate namespace: medical_genetics synonym: "Increased blood lactate" EXACT [] is_a: HP:0001941 ! Acidosis [Term] id: HP:0002152 name: Hyperproteinemia namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0002153 name: Hyperkalemia namespace: medical_genetics is_a: HP:0003253 ! Electrolyte disorders [Term] id: HP:0002154 name: Hyperglycinemia namespace: medical_genetics is_a: HP:0003112 ! Abnormal serum amino acid findings [Term] id: HP:0002155 name: Hypertriglyceridemia namespace: medical_genetics synonym: "Increased triglycerides" EXACT [] is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0002156 name: Homocystinuria namespace: medical_genetics is_a: HP:0002903 ! Aminoaciduria [Term] id: HP:0002157 name: Azotemia namespace: medical_genetics comment: Abnormal levels of nitrogen-containing compounds, such as urea and creatinine. is_a: HP:0004364 ! Abnormality of ammonia metabolism [Term] id: HP:0002158 name: Lysinuria namespace: medical_genetics is_a: HP:0002903 ! Aminoaciduria [Term] id: HP:0002159 name: Heparan sulfate excretion in urine namespace: medical_genetics is_a: HP:0004355 ! Abnormality of proteoglycan metabolism [Term] id: HP:0002160 name: Homocystinemia namespace: medical_genetics is_a: HP:0004339 ! Abnormality of sulfur-containing amino acids [Term] id: HP:0002161 name: Hyperlysinemia namespace: medical_genetics is_a: HP:0003112 ! Abnormal serum amino acid findings [Term] id: HP:0002162 name: Low posterior hairline namespace: medical_genetics synonym: "Low posterior hair line" EXACT [] is_a: HP:0000464 ! Neck abnormality is_a: HP:0009553 ! Abnormality of the hairline [Term] id: HP:0002164 name: Nail dysplasia namespace: medical_genetics alt_id: HP:0001797 synonym: "Dysplastic nails" EXACT [] synonym: "Onychodysplasia" EXACT [] is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0002165 name: Pterygium formation (nails) namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0002166 name: Decreased vibratory sense in the lower limbs namespace: medical_genetics synonym: "Decreased lower limb vibratory sense" EXACT [] synonym: "Decreased vibratory sense in lower limbs" EXACT [] synonym: "Decreased vibratory sense in the lower extremities" EXACT [] synonym: "Diminished vibratory sensation in the legs" EXACT [] synonym: "Distal sensory loss, especially vibratory sense" EXACT [] synonym: "Distal vibratory impairment of the lower limbs" EXACT [] is_a: HP:0002495 ! Impaired vibratory sense [Term] id: HP:0002167 name: Neurological speech impairment namespace: medical_genetics synonym: "Speech disorder" EXACT [] synonym: "Speech impairment" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002168 name: Scanning speech namespace: medical_genetics is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002169 name: Clonus namespace: medical_genetics is_a: HP:0002127 ! Upper motor neuron abnormality [Term] id: HP:0002170 name: Intracranial hemorrhage namespace: medical_genetics def: "A hemorrhage (bleeding) occuring within the skull." [HPO:curators] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002171 name: Gliosis namespace: medical_genetics synonym: "Cerebral gliosis" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002172 name: Postural instability namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0002173 name: Seizures, hypoglycemic namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002174 name: Postural tremor namespace: medical_genetics is_a: HP:0001337 ! Tremor [Term] id: HP:0002175 name: Seizures, generalized, associated with fever namespace: medical_genetics is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0002176 name: Spinal cord compression namespace: medical_genetics is_a: HP:0002143 ! Abnormality of the spinal cord and vertebral column [Term] id: HP:0002178 name: EMG shows neurogenic abnormalities namespace: medical_genetics synonym: "Emg shows neurogenic findings" EXACT [] is_a: HP:0003457 ! Abnormal EMG findings [Term] id: HP:0002179 name: Opisthotonus namespace: medical_genetics comment: Severe hyperextension and spasticity in which an individual's head, neck and spinal column arch posteriorly. synonym: "Opisthotonos" EXACT [] is_a: HP:0001257 ! Spasticity [Term] id: HP:0002180 name: Neurodegeneration namespace: medical_genetics synonym: "Neuro-degenerative disease" EXACT [] is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0002181 name: Cerebral edema namespace: medical_genetics synonym: "Brain edema" EXACT [] is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002182 name: Seizures occur in absence of intracranial infection or defined pathologic or traumatic cause namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002183 name: Phonophobia namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002184 name: Hypertonic seizures namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002185 name: Neurofibrillary tangles namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002186 name: Apraxia namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002187 name: Mental retardation, profound namespace: medical_genetics def: "Severe mental retardation is defined as an intelligence quotient (IQ) below 20." [HPO:curators] synonym: "Developmental delay, profound" RELATED [] synonym: "Developmental retardation, profound" EXACT [] synonym: "Profound mental retardation" EXACT [] is_a: HP:0001261 ! Mental retardation, severe [Term] id: HP:0002188 name: Delayed myelination namespace: medical_genetics synonym: "Delay in myelination" EXACT [] is_a: HP:0002520 ! Abnormal myelination [Term] id: HP:0002189 name: Excessive daytime sleepiness namespace: medical_genetics is_a: HP:0002360 ! Sleep disturbances [Term] id: HP:0002190 name: Choroid plexus cyst namespace: medical_genetics is_a: HP:0007376 ! Abnormality of the choroid plexus [Term] id: HP:0002191 name: Spasticity, progressive namespace: medical_genetics is_a: HP:0001257 ! Spasticity [Term] id: HP:0002193 name: Pseudobulbar symptoms (uncontrolled laughter, weeping) namespace: medical_genetics is_a: HP:0002200 ! Pseudobulbar signs [Term] id: HP:0002194 name: Delayed gross motor development namespace: medical_genetics synonym: "Delayed gross motor skills" EXACT [] synonym: "Developmental delay, gross motor" EXACT [] synonym: "Gross motor delay" EXACT [] is_a: HP:0001270 ! Motor retardation [Term] id: HP:0002195 name: Dysgenesis or agenesis of the cerebellar vermis namespace: medical_genetics is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0002196 name: Myelopathy namespace: medical_genetics is_a: HP:0002143 ! Abnormality of the spinal cord and vertebral column [Term] id: HP:0002197 name: Generalized seizures namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002198 name: Enlarged fourth ventricle namespace: medical_genetics synonym: "Dilated fourth ventricle" EXACT [] is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002199 name: Seizures due to hypocalcemia namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002200 name: Pseudobulbar signs namespace: medical_genetics synonym: "Pseudobulbar symptoms" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002201 name: Pseudobulbar palsy namespace: medical_genetics is_a: HP:0002200 ! Pseudobulbar signs [Term] id: HP:0002202 name: Pleural effusion namespace: medical_genetics is_a: HP:0002103 ! Abnormality of the pleura [Term] id: HP:0002203 name: Respiratory paralysis namespace: medical_genetics is_a: HP:0004347 ! Abnormal weakness of muscles of respiration [Term] id: HP:0002204 name: Pulmonary embolism namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0002205 name: Recurrent respiratory infections namespace: medical_genetics alt_id: HP:0002782 synonym: "Frequent respiratory infections" EXACT [] synonym: "Multiple respiratory infections" EXACT [] synonym: "Respiratory infection" EXACT [] synonym: "Respiratory infections" EXACT [] synonym: "Respiratory tract infections" EXACT [] synonym: "Susceptibility to respiratory infections" EXACT [] is_a: HP:0002086 ! Respiratory abnormality [Term] id: HP:0002206 name: Pulmonary fibrosis namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0002207 name: Diffuse reticular or finely nodular infiltrations namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0002208 name: Coarse hair namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002209 name: Sparse scalp hair namespace: medical_genetics is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002211 name: White forelock namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002212 name: Curly hair namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002213 name: Fine hair namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002214 name: Blond hair namespace: medical_genetics is_a: HP:0002286 ! Light colored hair [Term] id: HP:0002215 name: Sparse axillary hair namespace: medical_genetics is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002216 name: Premature graying of hair namespace: medical_genetics synonym: "Early graying" EXACT [] synonym: "Premature graying" EXACT [] synonym: "Premature greying" EXACT [] synonym: "Premature hair graying" EXACT [] is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002217 name: Slow-growing hair namespace: medical_genetics synonym: "Slow growing hair" EXACT [] is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002218 name: Silver-gray hair namespace: medical_genetics synonym: "Silver-gray hair color" EXACT [] synonym: "Silvery-gray hair" EXACT [] is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002219 name: Facial hypertrichosis namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002220 name: Melanin pigment aggregation in hair shafts namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002221 name: Absent axillary hair namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002222 name: Sparse eyebrows and eyelashes namespace: medical_genetics synonym: "Sparse eyelashes and eyebrows" EXACT [] is_a: HP:0000535 ! Sparse eyebrows is_a: HP:0000653 ! Sparse eyelashes [Term] id: HP:0002223 name: Absent eyebrows namespace: medical_genetics synonym: "Scand-absent eyebrows" EXACT [] is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0002224 name: Woolly hair namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002225 name: Sparse pubic hair namespace: medical_genetics synonym: "Decreased sexual hair" EXACT [] is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002226 name: White eyebrows namespace: medical_genetics is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0002227 name: White eyelashes namespace: medical_genetics is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0002228 name: White eyelashes and eyebrows namespace: medical_genetics is_a: HP:0002226 ! White eyebrows is_a: HP:0002227 ! White eyelashes [Term] id: HP:0002229 name: Alopecia areata namespace: medical_genetics is_a: HP:0001596 ! Alopecia [Term] id: HP:0002230 name: Generalized hirsutism namespace: medical_genetics def: "Abnormally increased hair growth over much of the entire body." [HPO:curators] is_a: HP:0001007 ! Hirsutism [Term] id: HP:0002231 name: Sparse body hair namespace: medical_genetics is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002232 name: Patchy alopecia namespace: medical_genetics is_a: HP:0001596 ! Alopecia [Term] id: HP:0002233 name: Sparse, thin scalp hair namespace: medical_genetics is_a: HP:0002209 ! Sparse scalp hair [Term] id: HP:0002234 name: Early balding namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002235 name: Pili canaliculi namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002236 name: Frontal hair upsweep namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002237 name: Thin hair namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002239 name: Gastrointestinal hemorrhage namespace: medical_genetics synonym: "Gastrointestinal bleeding" EXACT [] synonym: "GI hemorrhage" EXACT [] is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0002240 name: Hepatomegaly namespace: medical_genetics alt_id: HP:0001393 is_a: HP:0001392 ! Abnormality of the liver is_a: HP:0003271 ! Visceromegaly [Term] id: HP:0002241 name: Chronic constipation namespace: medical_genetics is_a: HP:0002019 ! Constipation [Term] id: HP:0002242 name: Abnormality of the intestines namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0002243 name: Protein-losing enteropathy namespace: medical_genetics is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002244 name: Abnormality of the small intestine namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002245 name: Meckel diverticulum namespace: medical_genetics comment: Meckel's diverticulum is a congenital diverticulum located in the distal ileum. is_a: HP:0001549 ! Abnormality of the ileum [Term] id: HP:0002246 name: Abnormality of the duodenum namespace: medical_genetics is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002247 name: Duodenal atresia namespace: medical_genetics is_a: HP:0002246 ! Abnormality of the duodenum [Term] id: HP:0002248 name: Hematemesis namespace: medical_genetics is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002249 name: Melena namespace: medical_genetics is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002250 name: Abnormality of the large intestine namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002251 name: Congenital megacolon namespace: medical_genetics is_a: HP:0004362 ! Abnormality of the enteric ganglia [Term] id: HP:0002252 name: Fatty infiltration of liver namespace: medical_genetics synonym: "Fatty liver degeneration" EXACT [] is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0002253 name: Colon diverticula namespace: medical_genetics synonym: "Colonic diverticula" EXACT [] is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0002254 name: Intermittent diarrhea namespace: medical_genetics is_a: HP:0002014 ! Diarrhea [Term] id: HP:0002255 name: Bloody diarrhea namespace: medical_genetics is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002256 name: Small bowel diverticula namespace: medical_genetics is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002257 name: Chronic rhinitis namespace: medical_genetics is_a: HP:0000366 ! Abnormality of the nose [Term] id: HP:0002258 name: Microbrachycephaly namespace: medical_genetics is_a: HP:0000248 ! Brachycephaly [Term] id: HP:0002259 name: Facial weakness late namespace: medical_genetics is_a: HP:0002517 ! Facial palsy [Term] id: HP:0002260 name: Craniofacial dysmorphism namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0002261 name: Narrow mouth namespace: medical_genetics is_a: HP:0000160 ! Microstomia [Term] id: HP:0002262 name: Puffy cheeks namespace: medical_genetics is_a: HP:0000293 ! Full cheeks [Term] id: HP:0002263 name: Exaggerated cupid's bow upper lip namespace: medical_genetics synonym: "Cupid bow upper lip" EXACT [] synonym: "Cupid-bow shaped upper lip" EXACT [] synonym: "Prominent cupid-bow of upper lip" EXACT [] is_a: HP:0000177 ! Abnormality of upper lip [Term] id: HP:0002264 name: Eclabion namespace: medical_genetics is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0002265 name: Large fleshy ears namespace: medical_genetics is_a: HP:0000400 ! Large ears [Term] id: HP:0002266 name: Focal clonic seizures namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002267 name: Increased startle response namespace: medical_genetics synonym: "Exaggerated acoustic startle response" EXACT [] synonym: "Exaggerated startle response" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002268 name: Dystonia, paroxysmal namespace: medical_genetics is_a: HP:0001332 ! Dystonia [Term] id: HP:0002269 name: Neuronal migration disorder namespace: medical_genetics synonym: "Abnormal neuronal migration" EXACT [] synonym: "Migrational brain disorder" EXACT [] is_a: HP:0007317 ! Heterotopias/abnormal migration [Term] id: HP:0002270 name: Abnormality of the autonomic nervous system namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0002271 name: Autonomic dysregulation namespace: medical_genetics is_a: HP:0002270 ! Abnormality of the autonomic nervous system [Term] id: HP:0002272 name: Periventricular neuronal heterotopia namespace: medical_genetics is_a: HP:0002282 ! Heterotopia [Term] id: HP:0002273 name: Tetraparesis namespace: medical_genetics alt_id: HP:0002338 synonym: "Quadriparesis" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002274 name: Dementia, progressive namespace: medical_genetics synonym: "Progressive dementia" EXACT [] is_a: HP:0000726 ! Dementia [Term] id: HP:0002275 name: Poor motor coordination namespace: medical_genetics synonym: "Poor gross motor coordination" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002276 name: Limb incoordination namespace: medical_genetics synonym: "Incoordination of limb movements" EXACT [] is_a: HP:0002311 ! Incoordination [Term] id: HP:0002277 name: Horner syndrome namespace: medical_genetics alt_id: HP:0000596 comment: Ptosis, miosis, and occasionally apparent enophthalmos and anhidrosis on one side of the face, loss of ciliospinal reflex and blood shot conjunctiva. synonym: "Horner's syndrome" EXACT [] is_a: HP:0000508 ! Ptosis is_a: HP:0000616 ! Miosis is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002278 name: Staring episodes during seizures namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002279 name: Seizures occur in clusters namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002280 name: Enlarged cisterna magna namespace: medical_genetics synonym: "Large cisterna magna" EXACT [] is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002281 name: Gray matter heterotopias namespace: medical_genetics is_a: HP:0002282 ! Heterotopia [Term] id: HP:0002282 name: Heterotopia namespace: medical_genetics synonym: "Heterotopias" EXACT [] is_a: HP:0007317 ! Heterotopias/abnormal migration [Term] id: HP:0002283 name: Diffuse brain atrophy namespace: medical_genetics alt_id: HP:0002369 alt_id: HP:0002462 synonym: "Generalized brain atrophy" EXACT [] synonym: "Generalized cerebral atrophy" EXACT [] is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0002284 name: Sparse to absent eyelashes namespace: medical_genetics synonym: "Partial to total absence of eyelashes" EXACT [] synonym: "Scant-absent eyelashes" EXACT [] synonym: "Sparse/absent eyebrows" EXACT [] synonym: "Sparse/absent eyelashes" EXACT [] is_a: HP:0000653 ! Sparse eyelashes [Term] id: HP:0002285 name: Uncombable hair namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002286 name: Light colored hair namespace: medical_genetics is_a: HP:0005599 ! Hair hypopigmentation [Term] id: HP:0002287 name: Progressive alopecia namespace: medical_genetics is_a: HP:0001596 ! Alopecia [Term] id: HP:0002288 name: Absent eyebrows and eyelashes namespace: medical_genetics synonym: "Absence of eyebrows and eyelashes" EXACT [] is_a: HP:0000561 ! Absent eyelashes is_a: HP:0002223 ! Absent eyebrows [Term] id: HP:0002289 name: Alopecia, complete namespace: medical_genetics is_a: HP:0001596 ! Alopecia [Term] id: HP:0002290 name: Poliosis namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002291 name: Sparse, fine hair namespace: medical_genetics synonym: "Short, sparse, fine hair" EXACT [] is_a: HP:0002213 ! Fine hair is_a: HP:0008070 ! Sparse hair [Term] id: HP:0002292 name: Frontal balding (male pattern baldness) namespace: medical_genetics synonym: "Frontal balding" EXACT [] is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002293 name: Alopecia of scalp namespace: medical_genetics is_a: HP:0001596 ! Alopecia [Term] id: HP:0002294 name: Fair hair namespace: medical_genetics is_a: HP:0002286 ! Light colored hair [Term] id: HP:0002295 name: Brittle hair namespace: medical_genetics alt_id: HP:0003776 synonym: "Fragile hair" EXACT [] is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002296 name: Hypotrichosis, progressive namespace: medical_genetics def: "Progressively reduced or lacking hair growth." [HPO:curators] is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0002297 name: Red hair namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002298 name: Absent hair namespace: medical_genetics is_a: HP:0002225 ! Sparse pubic hair [Term] id: HP:0002299 name: Fine, brittle hair namespace: medical_genetics is_a: HP:0002213 ! Fine hair is_a: HP:0002295 ! Brittle hair [Term] id: HP:0002300 name: Mutism namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0002301 name: Hemiplegia namespace: medical_genetics is_a: HP:0004374 ! Hemiplegia or hemiparesis [Term] id: HP:0002302 name: Cognitive abnormality namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002303 name: Cognitive decline namespace: medical_genetics is_a: HP:0002302 ! Cognitive abnormality [Term] id: HP:0002304 name: Akinesia namespace: medical_genetics is_a: HP:0002374 ! Diminished movement [Term] id: HP:0002305 name: Athetosis namespace: medical_genetics alt_id: HP:0007167 def: "Athetosis (from the Greek word for 'changeable' or 'unfixed') refers to an inability to sustain the muscles of the fingers, toes, tongue, or any other group of muscles in a fixed position. Instead, posture is interrupted by slow, purposeless involuntary movements." [HPO:curators] synonym: "Athetoid movements" EXACT [] is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0002306 name: Seizures recur in 33% of patients namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002307 name: Drooling namespace: medical_genetics is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations is_a: HP:0003781 ! Excessive salivation [Term] id: HP:0002308 name: Arnold-Chiari malformation namespace: medical_genetics def: "Arnold-Chiari malformation consists of a downward displacement of the cerebellar tonsils and the medulla through the foramen magnum, sometimes causing hydrocephalus as a result of obstruction of CSF outflow." [HPO:curators] synonym: "Arnola-Chiari malformation" EXACT [] synonym: "Chiari malformation" EXACT [] is_a: HP:0002438 ! Cerebellar malformation [Term] id: HP:0002309 name: Weakness namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0002310 name: Orofacial dyskinesia namespace: medical_genetics synonym: "Orofacial dyskinesias" EXACT [] is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0002311 name: Incoordination namespace: medical_genetics synonym: "Difficulties in coordination" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002312 name: Clumsiness namespace: medical_genetics is_a: HP:0002311 ! Incoordination [Term] id: HP:0002313 name: Spastic paraparesis namespace: medical_genetics is_a: HP:0001257 ! Spasticity [Term] id: HP:0002314 name: Degeneration of the lateral corticospinal tracts namespace: medical_genetics synonym: "Degeneration of lateral corticospinal tracts" EXACT [] is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts [Term] id: HP:0002315 name: Headache namespace: medical_genetics alt_id: HP:0000266 def: "Cephalgia, or pain in the head originating from the cerebral vault." [HPO:curators] synonym: "Headaches" EXACT [] is_a: HP:0000234 ! Head abnormality is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002316 name: Mental retardation, moderate to severe namespace: medical_genetics synonym: "Moderate-severe mental retardation" EXACT [] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002317 name: Unsteady gait namespace: medical_genetics synonym: "Gait instability" EXACT [] is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002318 name: Cervical myelopathy namespace: medical_genetics is_a: HP:0002196 ! Myelopathy [Term] id: HP:0002319 name: Thin corpus callosum namespace: medical_genetics synonym: "Thinning of the corpus callosum" EXACT [] is_a: HP:0001273 ! Abnormality of the corpus callosum [Term] id: HP:0002321 name: Vertigo namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0002322 name: Resting tremor namespace: medical_genetics is_a: HP:0002080 ! Intention tremor [Term] id: HP:0002323 name: Anencephaly namespace: medical_genetics is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0002324 name: Hydranencephaly namespace: medical_genetics is_a: HP:0002323 ! Anencephaly [Term] id: HP:0002325 name: Ankle or knee clonus namespace: medical_genetics is_a: HP:0002169 ! Clonus [Term] id: HP:0002326 name: Transient ischemic attack namespace: medical_genetics synonym: "Transient ischemic attacks" EXACT [] is_a: HP:0001297 ! Stroke [Term] id: HP:0002329 name: Drowsiness namespace: medical_genetics is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0002330 name: Attacks of disabling daytime drowsiness and low alertness namespace: medical_genetics is_a: HP:0002329 ! Drowsiness [Term] id: HP:0002331 name: Headache (with pheochromocytoma) namespace: medical_genetics is_a: HP:0002315 ! Headache [Term] id: HP:0002332 name: Lack of peer relationships namespace: medical_genetics is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0002333 name: Motor deterioration namespace: medical_genetics is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002334 name: Abnormality of the cerebellar vermis namespace: medical_genetics is_a: HP:0002438 ! Cerebellar malformation [Term] id: HP:0002335 name: Agenesis of cerebellar vermis namespace: medical_genetics synonym: "Cerebellar vermis aplasia" EXACT [] is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0002336 name: Language delay namespace: medical_genetics synonym: "Delayed language development" EXACT [] synonym: "Language delayed" EXACT [] synonym: "Language development deficit" EXACT [] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002337 name: Cognitive deficits namespace: medical_genetics is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002339 name: Abnormality of the caudate nucleus namespace: medical_genetics is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002340 name: Caudate atrophy namespace: medical_genetics is_a: HP:0007374 ! Atrophy/Degeneration involving the caudate nucleus [Term] id: HP:0002341 name: Cervical cord compression namespace: medical_genetics is_a: HP:0002176 ! Spinal cord compression [Term] id: HP:0002342 name: Mental retardation, moderate namespace: medical_genetics alt_id: HP:0007303 def: "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49." [HPO:curators] synonym: "Mental retardation, moderate, nonsyndromic" EXACT [] synonym: "Moderate mental deficiency" EXACT [] synonym: "Moderate mental retardation" EXACT [] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002343 name: Normal pressure hydrocephalus namespace: medical_genetics synonym: "Normal-pressure hydrocephalus" EXACT [] is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0002344 name: Progressive neurologic deterioration namespace: medical_genetics synonym: "Neurologic deterioration" EXACT [] synonym: "Neurologic deterioration, progressive" EXACT [] synonym: "Progressive mental deterioration" EXACT [] synonym: "Progressive neurodegeneration" EXACT [] is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002345 name: Action tremor namespace: medical_genetics def: "A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement." [HPO:curators] is_a: HP:0001337 ! Tremor [Term] id: HP:0002346 name: Head tremor namespace: medical_genetics is_a: HP:0001337 ! Tremor [Term] id: HP:0002348 name: Seizures, afebrile namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002349 name: Simple partial seizures namespace: medical_genetics is_a: HP:0007359 ! Partial seizures [Term] id: HP:0002350 name: Cerebellar cysts namespace: medical_genetics is_a: HP:0002317 ! Unsteady gait [Term] id: HP:0002351 name: Choreoathetosis, episodic namespace: medical_genetics synonym: "Choreoathetosis, intermittent" EXACT [] is_a: HP:0002469 ! Choreoathetoid movements [Term] id: HP:0002352 name: Leukoencephalopathy namespace: medical_genetics synonym: "Mri shows leukoencephalopathy" EXACT [] is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002353 name: EEG abnormalities namespace: medical_genetics alt_id: HP:0006841 def: "Abnormality observed by electroencephalogram (EEG), which is used to record of the brain's spontaneous electrical activity from multiple electrodes placed on the scalp." [HPO:curators] synonym: "Abnormal EEG" EXACT [] synonym: "Abnormal electroencephalogram" EXACT [] synonym: "Electroencephalogram abnormalities" EXACT [] is_a: HP:0001311 ! Neurophysiological abnormality [Term] id: HP:0002354 name: Memory impairment namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002355 name: Difficulty walking namespace: medical_genetics synonym: "Difficulty in walking" EXACT [] is_a: HP:0001288 ! Gait disturbance is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0002356 name: Writer's cramp namespace: medical_genetics is_a: HP:0004373 ! Focal dystonia [Term] id: HP:0002357 name: Dysphasia namespace: medical_genetics is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002358 name: Seizures, partial, afebrile namespace: medical_genetics is_a: HP:0007359 ! Partial seizures [Term] id: HP:0002359 name: Frequent falls namespace: medical_genetics is_a: HP:0002311 ! Incoordination is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0002360 name: Sleep disturbances namespace: medical_genetics synonym: "Sleep disturbance" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002361 name: Psychomotor degeneration namespace: medical_genetics synonym: "Psychomotor deterioration" EXACT [] is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002362 name: Shuffling gait namespace: medical_genetics is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002363 name: Abnormality of the brainstem namespace: medical_genetics comment: Note: The term 'bulbar' refers to the brainstem. is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002364 name: Cerebellar atrophy, progressive namespace: medical_genetics is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0002365 name: Hypoplasia of the brainstem namespace: medical_genetics synonym: "Brainstem hypoplasia" EXACT [] synonym: "Hypoplastic brain stem" EXACT [] synonym: "Hypoplastic brainstem" EXACT [] synonym: "Mri shows brainstem hypoplasia" EXACT [] is_a: HP:0007362 ! Aplasia/Hypoplasia of the brainstem [Term] id: HP:0002366 name: Lower motor neuron signs namespace: medical_genetics synonym: "Lower motor neuron manifestations" EXACT [] is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0002367 name: Visual hallucinations namespace: medical_genetics is_a: HP:0000738 ! Hallucinations [Term] id: HP:0002368 name: Psychiatric disorders namespace: medical_genetics synonym: "Psychiatric disturbances" EXACT [] is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0002370 name: Poor coordination namespace: medical_genetics is_a: HP:0002311 ! Incoordination [Term] id: HP:0002371 name: Loss of speech namespace: medical_genetics is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002372 name: Normal interictal EEG namespace: medical_genetics is_a: HP:0002353 ! EEG abnormalities [Term] id: HP:0002373 name: Febrile seizures namespace: medical_genetics synonym: "Febrile seizures may occur" EXACT [] is_a: HP:0001250 ! Seizures [Term] id: HP:0002374 name: Diminished movement namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002375 name: Hypokinesia namespace: medical_genetics is_a: HP:0002374 ! Diminished movement [Term] id: HP:0002376 name: Developmental regression namespace: medical_genetics synonym: "Developmental regression in affected children" EXACT [] synonym: "Neurodevelopmental regression" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002377 name: Cranial nerve palsies can arise with head and neck paragangliomas namespace: medical_genetics is_a: HP:0001353 ! Cranial nerve palsies [Term] id: HP:0002378 name: Hand tremor namespace: medical_genetics is_a: HP:0001337 ! Tremor [Term] id: HP:0002380 name: Fasciculations namespace: medical_genetics alt_id: HP:0007092 synonym: "Emg shows fasciculations" EXACT [] synonym: "Fasciculation" EXACT [] synonym: "Muscle fasciculation" EXACT [] is_a: HP:0001294 ! Involuntary movements is_a: HP:0004305 ! Involuntary muscle contractions [Term] id: HP:0002381 name: Aphasia namespace: medical_genetics is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002382 name: Variable mental retardation namespace: medical_genetics is_a: HP:0001325 ! Hypoglycemic coma [Term] id: HP:0002383 name: Encephalitis namespace: medical_genetics is_a: HP:0002382 ! Variable mental retardation [Term] id: HP:0002384 name: Complex partial seizures namespace: medical_genetics is_a: HP:0001250 ! Seizures is_a: HP:0007359 ! Partial seizures [Term] id: HP:0002385 name: Paraparesis namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002386 name: Mental retardation due to repeated episodes of hypoglycemia namespace: medical_genetics is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002387 name: Autonomic dysfunction namespace: medical_genetics is_a: HP:0002270 ! Abnormality of the autonomic nervous system [Term] id: HP:0002388 name: Hypertonicity namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002389 name: Cavum septum pellucidum namespace: medical_genetics is_a: HP:0007375 ! Abnormality of the septum pellucidum [Term] id: HP:0002390 name: Spinal arteriovenous malformation namespace: medical_genetics is_a: HP:0002143 ! Abnormality of the spinal cord and vertebral column [Term] id: HP:0002391 name: Infantile spasms namespace: medical_genetics synonym: "Infantile spasm" EXACT [] is_a: HP:0001250 ! Seizures [Term] id: HP:0002392 name: EEG shows 3-4-Hz spike and multispike slow wave complexes namespace: medical_genetics synonym: "Eeg shows spike and multispike waves, 3-4 hz" EXACT [] is_a: HP:0002353 ! EEG abnormalities [Term] id: HP:0002394 name: Walking on tiptoes namespace: medical_genetics is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002395 name: Lower limb hyperreflexia namespace: medical_genetics alt_id: HP:0007288 synonym: "Hyperreflexia in lower limbs" EXACT [] synonym: "Hyperreflexia in the lower limbs" EXACT [] synonym: "Increased deep tendon reflexes in the lower limbs" EXACT [] synonym: "Leg hyperreflexia" EXACT [] is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0002396 name: Cogwheel rigidity namespace: medical_genetics is_a: HP:0002063 ! Rigidity [Term] id: HP:0002398 name: Degeneration of anterior horn cells namespace: medical_genetics 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: "Spinal cord anterior horn cell degeneration" EXACT [] is_a: HP:0002127 ! Upper motor neuron abnormality is_a: HP:0007373 ! Atrophy/Degeneration involving motor neurons [Term] id: HP:0002399 name: Speech and language difficulties namespace: medical_genetics synonym: "Speech and language delay" EXACT [] is_a: HP:0002116 ! Deficiency of speech development [Term] id: HP:0002400 name: Neuronal loss namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0002401 name: Stroke-like episodes namespace: medical_genetics synonym: "Strokelike episodes" EXACT [] is_a: HP:0001297 ! Stroke [Term] id: HP:0002402 name: Slowing mental development by 1.5 to 3 years of age namespace: medical_genetics synonym: "Slowing mental development by 15 to 3 years of age" EXACT [] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002403 name: Positive Romberg sign namespace: medical_genetics is_a: HP:0001251 ! Ataxia [Term] id: HP:0002404 name: Thick and elongated superior cerebellar peduncles namespace: medical_genetics synonym: "Long, thickened cerebellar peduncles" EXACT [] synonym: "Thick, elongated superior cerebellar peduncles" EXACT [] is_a: HP:0002438 ! Cerebellar malformation [Term] id: HP:0002405 name: Lesions in basal ganglia, brainstem, cerebellum, thalamus, spinal cord namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002406 name: Limb dysmetria namespace: medical_genetics is_a: HP:0001310 ! Dysmetria [Term] id: HP:0002407 name: Generalized tonic-clonic seizures (often develop in adolescence) namespace: medical_genetics is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0002408 name: Cerebral arteriovenous malformation namespace: medical_genetics synonym: "Cerebral av malformations" EXACT [] is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002409 name: Seizures, generalized, afebrile namespace: medical_genetics is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0002410 name: Aqueductal stenosis namespace: medical_genetics synonym: "Aqueduct of sylvius stenosis" EXACT [] is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002411 name: Myokymia namespace: medical_genetics is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0002412 name: Dystonia, episodic namespace: medical_genetics is_a: HP:0001332 ! Dystonia [Term] id: HP:0002413 name: Lesions characterized by demyelination, necrosis, gliosis, spongiosis, and capillary proliferation namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002414 name: Spina bifida namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0002143 ! Abnormality of the spinal cord and vertebral column [Term] id: HP:0002415 name: Leukodystrophy namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002416 name: Subependymal cysts namespace: medical_genetics is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002417 name: Seizures often begin with head and eye deviation namespace: medical_genetics alt_id: HP:0002432 synonym: "Seizures often begin focally with head and eye deviation" EXACT [] is_a: HP:0001250 ! Seizures [Term] id: HP:0002418 name: Abnormality of the midbrain namespace: medical_genetics synonym: "Abnormality of the mesencephalon" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002419 name: 'Molar tooth sign' on MRI namespace: medical_genetics comment: The term molar tooth refers to the characteristic appearance of an enlarged and horizontally directed tubular structure on each side of the midline emerging from the midbrain. 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 [] is_a: HP:0002418 ! Abnormality of the midbrain [Term] id: HP:0002420 name: Deep posterior interpeduncular fossa namespace: medical_genetics is_a: HP:0002418 ! Abnormality of the midbrain [Term] id: HP:0002421 name: Poor head control namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0002422 name: Cerebral atrophy, progressive namespace: medical_genetics is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0002423 name: Long-tract signs namespace: medical_genetics comment: Long-tract signs refer to symptoms that are attributable to the involvement of the long fiber tracts in the spinal cord, which connect the spinal cord to the brain and mediate spinal and motor functions. synonym: "Long tract signs" EXACT [] is_a: HP:0002143 ! Abnormality of the spinal cord and vertebral column [Term] id: HP:0002424 name: Frontal lobe hypoplasia namespace: medical_genetics def: "Underdevelopment of the frontal lobe of the cerebrum." [HPO:curators] is_a: HP:0006872 ! Cerebral hypoplasia [Term] id: HP:0002425 name: Anarthria namespace: medical_genetics is_a: HP:0002360 ! Sleep disturbances [Term] id: HP:0002427 name: Motor aphasia namespace: medical_genetics is_a: HP:0002381 ! Aphasia [Term] id: HP:0002428 name: Cataplexy often triggered by strong emotions namespace: medical_genetics is_a: HP:0002524 ! Cataplexy [Term] id: HP:0002429 name: EEG abnormalities in 20-50% namespace: medical_genetics is_a: HP:0002353 ! EEG abnormalities [Term] id: HP:0002430 name: Seizures in 15-30% namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002431 name: Between 2 and 7% of children will develop afebrile seizure disorders later in life namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002433 name: Global developmental delay namespace: medical_genetics synonym: "Developmental delay, global" EXACT [] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002434 name: Secondary generalization may occur namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002435 name: Meningocele namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002436 name: Occipital meningocele namespace: medical_genetics is_a: HP:0002435 ! Meningocele [Term] id: HP:0002437 name: Seizures occur in clusters over 1 or several days namespace: medical_genetics is_a: HP:0002279 ! Seizures occur in clusters [Term] id: HP:0002438 name: Cerebellar malformation namespace: medical_genetics is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0002439 name: Frontolimbic dementia namespace: medical_genetics is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002441 name: Cognitive defects namespace: medical_genetics is_a: HP:0002302 ! Cognitive abnormality [Term] id: HP:0002442 name: Dyscalculia namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002443 name: Abnormality of the hypothalamus namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002444 name: Hypothalamic hamartoma namespace: medical_genetics is_a: HP:0002443 ! Abnormality of the hypothalamus [Term] id: HP:0002445 name: Tetraplegia namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002446 name: Astrocytosis namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002447 name: Enlarged ventricles namespace: medical_genetics synonym: "Dilated cerebral ventricle" EXACT [] synonym: "Dilated ventricles" EXACT [] synonym: "Enlarged ventricular system" EXACT [] synonym: "Large cerebral ventricles and cisternae" EXACT [] synonym: "Ventricular dilatation" EXACT [] is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0002448 name: Encephalopathy, progressive namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0002450 name: Abnormality of the motor neurons namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002451 name: Limb dystonia namespace: medical_genetics is_a: HP:0001332 ! Dystonia [Term] id: HP:0002452 name: Cerebrovascular accident namespace: medical_genetics synonym: "Cerebral vascular events" EXACT [] is_a: HP:0001297 ! Stroke [Term] id: HP:0002453 name: Abnormality of the globus pallidus namespace: medical_genetics is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0002454 name: MRI shows decreased signal intensity in the pallidal nuclei with central hyperintensity ('eye of the tiger' sign) namespace: medical_genetics is_a: HP:0002453 ! Abnormality of the globus pallidus [Term] id: HP:0002455 name: Muscle weakness, symmetric, proximal (lower limbs more affected than upper limbs) due to motor neuronopathy namespace: medical_genetics is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0002456 name: Severe behavioral problems at age 3-4 namespace: medical_genetics synonym: "Severe behavioral problems at age 3-4 years" EXACT [] synonym: "Severe behavioral problems beginning at 3 to 4 years of age" EXACT [] is_a: HP:0000715 ! Behavioral disturbances [Term] id: HP:0002457 name: Abnormal head movements namespace: medical_genetics is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0002458 name: Mental retardation, mild to severe namespace: medical_genetics synonym: "Delayed development, ranging from mild to severe" EXACT [] synonym: "Mild to severe mental retardation" EXACT [] synonym: "Mild-severe mental retardation" EXACT [] synonym: "Mild-to-severe mental retardation" EXACT [] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002459 name: Dysautonomia namespace: medical_genetics is_a: HP:0002270 ! Abnormality of the autonomic nervous system [Term] id: HP:0002460 name: Distal muscle weakness namespace: medical_genetics def: "Reduced strength of the distal musculature." [HPO:curators] synonym: "Distal limb weakness" EXACT [] synonym: "Distal muscular weakness" EXACT [] synonym: "Muscle weakness, distal" EXACT [] synonym: "Weakness of distal muscles" EXACT [] is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0002461 name: Dense calcifications in the cerebellar dentate nucleus namespace: medical_genetics is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0002463 name: Language impairment namespace: medical_genetics is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002464 name: Spastic dysarthria namespace: medical_genetics is_a: HP:0001257 ! Spasticity [Term] id: HP:0002465 name: Poor speech namespace: medical_genetics is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002466 name: Seizures (in 35%) namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002467 name: Decreased deep tendon reflexes namespace: medical_genetics synonym: "Decreased tendon reflexes" EXACT [] synonym: "Depressed tendon reflexes" EXACT [] synonym: "Diminished deep tendon reflexes" EXACT [] is_a: HP:0001315 ! Reduced reflexes [Term] id: HP:0002468 name: Fasciculation-like movements namespace: medical_genetics is_a: HP:0002380 ! Fasciculations [Term] id: HP:0002469 name: Choreoathetoid movements namespace: medical_genetics def: "Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements)." [HPO:curators] is_a: HP:0002072 ! Chorea is_a: HP:0002305 ! Athetosis [Term] id: HP:0002470 name: Cerebellar ataxia, nonprogressive namespace: medical_genetics is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0002471 name: Loss of developmental milestones namespace: medical_genetics is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002472 name: Small cerebral cortex namespace: medical_genetics synonym: "Decreased volume of cerebral cortex" EXACT [] is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0002473 name: Delayed developmental milestones namespace: medical_genetics synonym: "Delayed milestones" EXACT [] is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0002474 name: Expressive language delay namespace: medical_genetics is_a: HP:0002336 ! Language delay [Term] id: HP:0002475 name: Meningomyelocele namespace: medical_genetics is_a: HP:0002435 ! Meningocele [Term] id: HP:0002476 name: Primitive reflexes (palmomental, snout, glabellar) namespace: medical_genetics synonym: "Primitive reflexes" EXACT [] is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002478 name: Progressive spastic quadriplegia namespace: medical_genetics synonym: "Progressive spastic quadriparesis" EXACT [] is_a: HP:0001257 ! Spasticity [Term] id: HP:0002479 name: Increased risk of seizures in childhood or adulthood (11-16%) namespace: medical_genetics is_a: HP:0001250 ! Seizures [Term] id: HP:0002480 name: Hepatic encephalopathy namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002481 name: Poor mobility namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0002482 name: Mental retardation can occur in patients with repeated episodes of dehydration namespace: medical_genetics is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002483 name: Bulbar signs namespace: medical_genetics is_a: HP:0002363 ! Abnormality of the brainstem [Term] id: HP:0002485 name: CT scan shows dense calcifications in the basal ganglia namespace: medical_genetics is_a: HP:0002135 ! Basal ganglia calcifications [Term] id: HP:0002486 name: Myotonia namespace: medical_genetics comment: Myotonia is characterized by slow relaxation of the muscles after voluntary contraction or electrical stimulation. is_a: HP:0000707 ! Neurological abnormality is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0002487 name: Hyperkinesis namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0002488 name: Acute leukemia namespace: medical_genetics synonym: "Acute leukemias" EXACT [] is_a: HP:0001909 ! Leukemia created_by: peter creation_date: 2008-03-27T10:32:00Z [Term] id: HP:0002489 name: Psychomotor regression namespace: medical_genetics is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0002490 name: Increased CSF lactate namespace: medical_genetics synonym: "Increased csf lactic acid" EXACT [] is_a: HP:0000707 ! Neurological abnormality is_a: HP:0002921 ! Abnormal CSF findings [Term] id: HP:0002491 name: Spasticity of facial muscles namespace: medical_genetics 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 tracts namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002493 name: Corticospinal tract dysfunction namespace: medical_genetics is_a: HP:0002492 ! Abnormality of the corticospinal tracts [Term] id: HP:0002494 name: Abnormal rapid eye movement (rem) sleep namespace: medical_genetics synonym: "Abnormal rapid eye movement sleep" EXACT [] is_a: HP:0002360 ! Sleep disturbances [Term] id: HP:0002495 name: Impaired vibratory sense namespace: medical_genetics synonym: "Decreased vibration sense" EXACT [] synonym: "Decreased vibratory sense" EXACT [] synonym: "Diminished vibratory sense" EXACT [] is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0002496 name: Cerebellar ataxia, slowly progressive namespace: medical_genetics is_a: HP:0001253 ! Cerebellar ataxia [Term] id: HP:0002497 name: Spastic ataxia namespace: medical_genetics is_a: HP:0001251 ! Ataxia [Term] id: HP:0002498 name: Delayed speech acquisition namespace: medical_genetics is_a: HP:0002336 ! Language delay [Term] id: HP:0002499 name: Mental retardation (moderate to severe in males) namespace: medical_genetics is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002500 name: Abnormality of the cerebral white matter namespace: medical_genetics synonym: "Cerebral white matter abnormalities" EXACT [] synonym: "Increased white matter abnormalities on t2 signalling" EXACT [] synonym: "MRI shows white matter abnormalities" EXACT [] synonym: "White matter abnormalities" EXACT [] synonym: "White matter abnormalities on mri" EXACT [] synonym: "White matter alterations" EXACT [] is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002501 name: Spasticity of pharyngeal muscles namespace: medical_genetics is_a: HP:0001257 ! Spasticity [Term] id: HP:0002502 name: Calcifications may be seen in the thalamus, hippocampus, subcortical white matter, and cortex namespace: medical_genetics is_a: HP:0002514 ! Cerebral calcifications [Term] id: HP:0002503 name: Spinocerebellar tract degeneration namespace: medical_genetics synonym: "Degeneration of the spinocerebellar tracts" EXACT [] synonym: "Spinocerebellar degeneration" EXACT [] is_a: HP:0007368 ! Atrophy/Degeneration affecting the cerebellum [Term] id: HP:0002504 name: Neuropathologic examination shows calcification of the small brain vessels namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002505 name: Progressive inability to walk namespace: medical_genetics is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002506 name: Diffuse cerebral atrophy namespace: medical_genetics synonym: "Diffuse cerebral atrophy on ct and mri" EXACT [] is_a: HP:0002283 ! Diffuse brain atrophy [Term] id: HP:0002507 name: Semilobar holoprosencephaly namespace: medical_genetics is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0002508 name: Malformation of brainstem structures namespace: medical_genetics is_a: HP:0002363 ! Abnormality of the brainstem [Term] id: HP:0002509 name: Limb hypertonia namespace: medical_genetics is_a: HP:0002388 ! Hypertonicity [Term] id: HP:0002510 name: Spastic tetraplegia namespace: medical_genetics alt_id: HP:0001280 def: "Spastic paralysis affecting all four limbs." [HPO:curators] synonym: "Spastic quadriplegia" EXACT [] is_a: HP:0001257 ! Spasticity [Term] id: HP:0002511 name: Alzheimer disease namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002512 name: Brain stem compression namespace: medical_genetics is_a: HP:0002363 ! Abnormality of the brainstem [Term] id: HP:0002513 name: Spinocerebellar ataxia namespace: medical_genetics is_a: HP:0001253 ! Cerebellar ataxia [Term] id: HP:0002514 name: Cerebral calcifications namespace: medical_genetics synonym: "Brain calcification" EXACT [] synonym: "Brian calcification" EXACT [] synonym: "Intracerebral calcifications" EXACT [] synonym: "Intracranial calcification" EXACT [] synonym: "Intracranial calcifications" EXACT [] is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002515 name: Waddling gait namespace: medical_genetics synonym: "'Waddling' gait" EXACT [] is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002516 name: Increased intracranial pressure namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002517 name: Facial palsy namespace: medical_genetics alt_id: HP:0000296 alt_id: HP:0000344 def: "Facial palsy is the result of malfunction of the VIIth cranial (facial) nerve, which causes weakness of the muscles of facial expression and eye closure." [HPO:curators] synonym: "Facial muscle weakness" EXACT [] synonym: "Facial muscle weakness of muscles innervated by CN VII" EXACT [] synonym: "Facial weakness" EXACT [] is_a: HP:0000301 ! Abnormality of facial musculature is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0002518 name: Periventricular white matter changes namespace: medical_genetics is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0002519 name: Hypnagogic hallucinations namespace: medical_genetics is_a: HP:0000738 ! Hallucinations [Term] id: HP:0002520 name: Abnormal myelination namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0002521 name: Hypsarrhythmia namespace: medical_genetics comment: Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. synonym: "Eeg shows hypsarrhythmia" EXACT [] synonym: "Hypsarrhythmia by eeg" EXACT [] is_a: HP:0002353 ! EEG abnormalities [Term] id: HP:0002522 name: Areflexia in lower limbs namespace: medical_genetics synonym: "Absent lower limb tendon reflexes" EXACT [] synonym: "Areflexia of lower limbs" EXACT [] synonym: "Areflexia of the lower limbs" EXACT [] synonym: "Areflexia, lower limbs" EXACT [] is_a: HP:0001284 ! Areflexia [Term] id: HP:0002523 name: Hypotonia early namespace: medical_genetics def: "Muscular hypotonia (abnormally low muscle tone) with early onset." [HPO:curators] comment: This term should not be used for new annotations. Instead, state the type of onset of hypotonia more exactly. synonym: "Hypotonia, early" EXACT [] is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0002524 name: Cataplexy namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002525 name: Cataplexy, paroxysmal weakness or paralysis namespace: medical_genetics is_a: HP:0002524 ! Cataplexy [Term] id: HP:0002526 name: Deficit in nonword repetition (NWR) namespace: medical_genetics is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002527 name: Falls namespace: medical_genetics is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002528 name: Granulovacuolar degeneration namespace: medical_genetics comment: Degeneration of hippocampal cells characterized by basophilic granules surrounded by a clear zone in hippocampal neurons. Frequently occurs in Alzheimers disease. is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002529 name: Neuropathology shows neuronal loss in basal ganglia, brainstem, and cerebellum namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002530 name: Axial dystonia namespace: medical_genetics is_a: HP:0001332 ! Dystonia [Term] id: HP:0002532 name: Cognitive delay namespace: medical_genetics is_a: HP:0002337 ! Cognitive deficits [Term] id: HP:0002533 name: Abnormal posturing namespace: medical_genetics comment: Involuntary flexion or extension of the arms and legs. is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0002534 name: Limb weakness namespace: medical_genetics def: "Reduced strength of the musculature of the limbs (arms and legs)." [HPO:curators] is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0002536 name: Abnormal cortical gyration namespace: medical_genetics alt_id: HP:0006900 def: "An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain." [HPO:curators] synonym: "Abnormal gyration" EXACT [] synonym: "Cerebral gyral anomalies" EXACT [] is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0002538 name: Abnormality of the cerebral cortex namespace: medical_genetics is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0002539 name: Cortical dysplasia namespace: medical_genetics is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0002540 name: Inability to walk namespace: medical_genetics is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0002541 name: Knee and ankle clonus namespace: medical_genetics synonym: "Patellar and ankle clonus" EXACT [] is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0002542 name: Olivopontocerebellar atrophy namespace: medical_genetics synonym: "Olivopontocerebellar degeneration" EXACT [] is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0002543 name: Mental retardation, nonspecific namespace: medical_genetics is_a: HP:0001249 ! Mental retardation [Term] id: HP:0002544 name: Retrocollis namespace: medical_genetics comment: Retrocollis is a spasmodic form of torticollis in which the head is drawn back. is_a: HP:0000473 ! Torticollis [Term] id: HP:0002545 name: Patchy demyelination of subcortical white matter namespace: medical_genetics is_a: HP:0003381 ! Demyelination [Term] id: HP:0002546 name: Incomprehensible speech namespace: medical_genetics is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0002547 name: EMG shows neurogenic changes namespace: medical_genetics synonym: "Emg may show neurogenic changes" EXACT [] is_a: HP:0003457 ! Abnormal EMG findings [Term] id: HP:0002548 name: Favorable response to levodopa namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0002549 name: Deficit in phonologic short-term memory namespace: medical_genetics is_a: HP:0002354 ! Memory impairment [Term] id: HP:0002550 name: Absent facial hair namespace: medical_genetics is_a: HP:0001596 ! Alopecia [Term] id: HP:0002551 name: Severe hypotrichosis namespace: medical_genetics def: "Severely reduced or lacking hair growth." [HPO:curators] synonym: "Marked hypotrichosis" EXACT [] is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0002552 name: Trichodysplasia namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0002553 name: Arched eyebrows namespace: medical_genetics is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0002554 name: Thin eyebrows namespace: medical_genetics is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0002555 name: Absent pubic hair namespace: medical_genetics is_a: HP:0002115 ! Sparse or absent hair [Term] id: HP:0002556 name: Thin scalp hair namespace: medical_genetics is_a: HP:0002209 ! Sparse scalp hair [Term] id: HP:0002557 name: Hypoplastic nipples namespace: medical_genetics alt_id: HP:0002560 alt_id: HP:0003188 synonym: "Nipple hypoplasia" EXACT [] synonym: "Small nipples" EXACT [] is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples [Term] id: HP:0002558 name: Supernumerary nipples namespace: medical_genetics alt_id: HP:0002559 synonym: "Accessory nipple" EXACT [] synonym: "Accessory nipples" EXACT [] synonym: "Supernumerary nipple" EXACT [] is_a: HP:0004404 ! Abnormality of the nipples [Term] id: HP:0002561 name: Absent nipples namespace: medical_genetics is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples [Term] id: HP:0002562 name: Low-set nipples namespace: medical_genetics is_a: HP:0004404 ! Abnormality of the nipples [Term] id: HP:0002563 name: Constrictive pericarditis namespace: medical_genetics is_a: HP:0001701 ! Pericarditis [Term] id: HP:0002564 name: Cardiac malformation namespace: medical_genetics alt_id: HP:0001632 comment: This category is meant to comprise congenital (developmental) structural heart defects. synonym: "Congenital heart defect" EXACT [] synonym: "Congenital heart defects" EXACT [] synonym: "Congenital heart disease" EXACT [] is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0002565 name: Complex cardiac malformations namespace: medical_genetics synonym: "Cardiovascular malformations" EXACT [] is_a: HP:0002564 ! Cardiac malformation [Term] id: HP:0002566 name: Intestinal malrotation namespace: medical_genetics alt_id: HP:0002026 def: "An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis." [HPO:curators] synonym: "Malrotation" EXACT [] is_a: HP:0002012 ! Abnormality of gastrointestinal organs is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002567 name: Perirectal abscesses due to immunodeficiency namespace: medical_genetics is_a: HP:0002034 ! Abnormality of the rectum [Term] id: HP:0002568 name: Poor feeding due to muscle weakness namespace: medical_genetics is_a: HP:0002022 ! Feeding difficulties [Term] id: HP:0002570 name: Steatorrhea namespace: medical_genetics is_a: HP:0002630 ! Fat malabsorption [Term] id: HP:0002571 name: Achalasia namespace: medical_genetics is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0002572 name: Episodic vomiting namespace: medical_genetics is_a: HP:0002013 ! Vomiting [Term] id: HP:0002573 name: Hematochezia namespace: medical_genetics comment: Bright red blood in stool, most frequentoly caused by hemorrhoids or diverticulosis. is_a: HP:0002239 ! Gastrointestinal hemorrhage [Term] id: HP:0002574 name: Episodic abdominal pain namespace: medical_genetics is_a: HP:0002027 ! Abdominal pain [Term] id: HP:0002575 name: Tracheoesophageal fistula namespace: medical_genetics is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0002576 name: Intussusception namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002577 name: Abnormality of the stomach namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0002578 name: Gastroparesis namespace: medical_genetics is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0002579 name: Gastrointestinal dysmotility namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0002580 name: Volvulus namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002581 name: Pancreatic insufficiency namespace: medical_genetics is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0002582 name: Chronic atrophic gastritis namespace: medical_genetics is_a: HP:0005263 ! Gastritis [Term] id: HP:0002583 name: Severe colitis namespace: medical_genetics is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0002584 name: Intestinal bleeding namespace: medical_genetics is_a: HP:0002239 ! Gastrointestinal hemorrhage is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002585 name: Abnormality of the peritoneum namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002586 name: Peritonitis namespace: medical_genetics is_a: HP:0002585 ! Abnormality of the peritoneum [Term] id: HP:0002587 name: Projectile vomiting namespace: medical_genetics is_a: HP:0002013 ! Vomiting [Term] id: HP:0002588 name: Duodenal ulcer namespace: medical_genetics is_a: HP:0002246 ! Abnormality of the duodenum [Term] id: HP:0002589 name: Gastrointestinal atresia namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0002590 name: Paralytic ileus namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002591 name: Polyphagia namespace: medical_genetics alt_id: HP:0002042 synonym: "Voracious appetite" EXACT [] is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0002592 name: Gastric ulcer namespace: medical_genetics is_a: HP:0004295 ! Abnormality of the gastric mucosa [Term] id: HP:0002593 name: Intestinal lymphangiectasia namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002594 name: Pancreatic hypoplasia namespace: medical_genetics alt_id: HP:0005221 synonym: "Hypoplastic pancreas" EXACT [] is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0002595 name: Ileus namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002596 name: Decreased myenteric and submucosal ganglia in the bowel namespace: medical_genetics is_a: HP:0004362 ! Abnormality of the enteric ganglia [Term] id: HP:0002597 name: Abnormality of the vasculature namespace: medical_genetics synonym: "Vascular abnormalities" EXACT [] is_a: HP:0001626 ! Cardiovascular abnormality [Term] id: HP:0002598 name: Muscle weakness, distal (lower limbs more affected than upper limbs), due to motor neuronopathy namespace: medical_genetics synonym: "Muscle weakness, distal limbs, due to neuronopathy" EXACT [] is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0002599 name: Head titubation namespace: medical_genetics is_a: HP:0002457 ! Abnormal head movements [Term] id: HP:0002600 name: Hyporeflexia of lower limbs namespace: medical_genetics synonym: "Hyporeflexia in lower limbs" EXACT [] synonym: "Hyporeflexia of the lower limbs" EXACT [] synonym: "Hyporeflexia, lower limbs" EXACT [] is_a: HP:0001265 ! Hyporeflexia [Term] id: HP:0002601 name: Paresis of extensor muscles of the big toe is presenting symptom namespace: medical_genetics is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0002602 name: Secondary generalized tonic-clonic seizures namespace: medical_genetics synonym: "Secondary generalized tonic clonic seizures" EXACT [] is_a: HP:0001250 ! Seizures [Term] id: HP:0002603 name: Decreased spontaneous movements namespace: medical_genetics synonym: "Decreased spontaneous movement" EXACT [] is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0002604 name: Telangiectases (stomach, duodenum, small bowel, colon) namespace: medical_genetics is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature [Term] id: HP:0002605 name: Hepatic necrosis namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver created_by: peter creation_date: 2008-02-20T11:32:00Z [Term] id: HP:0002606 name: Barium enema shows transition zone between aganglionic contracted segment and dilated proximal bowel namespace: medical_genetics is_a: HP:0004362 ! Abnormality of the enteric ganglia [Term] id: HP:0002607 name: Bowel incontinence namespace: medical_genetics synonym: "Fecal incontinence" EXACT [] is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0002608 name: Celiac disease namespace: medical_genetics is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002609 name: Rectal bleeding namespace: medical_genetics is_a: HP:0002034 ! Abnormality of the rectum [Term] id: HP:0002610 name: Distal intestinal obstruction syndrome namespace: medical_genetics is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0002611 name: Cholestatic liver disease namespace: medical_genetics is_a: HP:0001396 ! Cholestasis [Term] id: HP:0002612 name: Congenital hepatic fibrosis namespace: medical_genetics is_a: HP:0001395 ! Hepatic fibrosis [Term] id: HP:0002613 name: Biliary cirrhosis namespace: medical_genetics is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0002614 name: Hepatic periportal necrosis namespace: medical_genetics is_a: HP:0002605 ! Hepatic necrosis [Term] id: HP:0002615 name: Hypotension namespace: medical_genetics alt_id: HP:0005127 alt_id: HP:0006701 synonym: "Arterial hypotension" EXACT [] synonym: "Low blood pressure" EXACT [] is_a: HP:0001626 ! Cardiovascular abnormality [Term] id: HP:0002616 name: Aortic root dilatation namespace: medical_genetics alt_id: HP:0004750 alt_id: HP:0005125 synonym: "increased aortic root diameter" EXACT [] is_a: HP:0005111 ! Dilatation of the ascending aorta [Term] id: HP:0002617 name: Aneurysmal disease namespace: medical_genetics is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002618 name: Intracranial aneurysm namespace: medical_genetics is_a: HP:0004944 ! Cerebral artery aneurysm [Term] id: HP:0002619 name: Varicose veins namespace: medical_genetics is_a: HP:0002624 ! Venous abnormalities [Term] id: HP:0002620 name: Arterial abnormalities namespace: medical_genetics is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002621 name: Atherosclerosis namespace: medical_genetics is_a: HP:0001626 ! Cardiovascular abnormality [Term] id: HP:0002622 name: Dissecting aortic aneurysm namespace: medical_genetics is_a: HP:0002647 ! Aortic dissection [Term] id: HP:0002623 name: Overriding aorta namespace: medical_genetics is_a: HP:0001679 ! Abnormalities of the aorta [Term] id: HP:0002624 name: Venous abnormalities namespace: medical_genetics is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002625 name: Deep venous thrombosis namespace: medical_genetics synonym: "Deep vein thrombosis" EXACT [] synonym: "Multiple deep venous thrombosis" EXACT [] is_a: HP:0004418 ! Thrombophlebitis [Term] id: HP:0002626 name: Venous varicosities of celiac and mesenteric vessels namespace: medical_genetics is_a: HP:0002619 ! Varicose veins [Term] id: HP:0002627 name: Right aortic arch namespace: medical_genetics is_a: HP:0001679 ! Abnormalities of the aorta [Term] id: HP:0002628 name: Enteropathy namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0002629 name: Gastrointestinal arteriovenous malformation namespace: medical_genetics is_a: HP:0004296 ! Abnormality of gastrointestinal vasculature [Term] id: HP:0002630 name: Fat malabsorption namespace: medical_genetics is_a: HP:0002024 ! Malabsorption is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0002631 name: Ascending aortic aneurysm namespace: medical_genetics is_a: HP:0005111 ! Dilatation of the ascending aorta [Term] id: HP:0002632 name: Low-to-normal blood pressure namespace: medical_genetics is_a: HP:0002615 ! Hypotension [Term] id: HP:0002633 name: Vasculitis namespace: medical_genetics is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0002634 name: Arteriosclerosis namespace: medical_genetics is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0002635 name: Atheromatosis namespace: medical_genetics is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0002636 name: Arterial aneurysm of celiac and mesenteric vessels namespace: medical_genetics is_a: HP:0002617 ! Aneurysmal disease is_a: HP:0002620 ! Arterial abnormalities [Term] id: HP:0002637 name: Cerebral ischemia namespace: medical_genetics is_a: HP:0009145 ! Abnormalities of the cerebral arteries [Term] id: HP:0002638 name: Superficial thrombophlebitis namespace: medical_genetics is_a: HP:0004418 ! Thrombophlebitis [Term] id: HP:0002639 name: Budd-Chiari syndrome namespace: medical_genetics is_a: HP:0002624 ! Venous abnormalities [Term] id: HP:0002640 name: Hypertension (with pheochromocytoma) namespace: medical_genetics is_a: HP:0000822 ! Hypertension [Term] id: HP:0002641 name: Peripheral thrombosis namespace: medical_genetics is_a: HP:0001977 ! Thrombosis [Term] id: HP:0002642 name: Arteriovenous fistulas of celiac and mesenteric vessels namespace: medical_genetics is_a: HP:0002620 ! Arterial abnormalities is_a: HP:0002624 ! Venous abnormalities [Term] id: HP:0002643 name: Neonatal respiratory distress namespace: medical_genetics synonym: "Infantile respiratory distress" EXACT [] synonym: "Newborn respiratory distress" EXACT [] synonym: "Respiratory distress, neonatal" EXACT [] is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002644 name: Abnormality of the pelvis namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002645 name: Wormian bones namespace: medical_genetics comment: Irregular, solated bones in the lambdoidal suture or at the fontanelles. is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0002647 name: Aortic dissection namespace: medical_genetics is_a: HP:0001679 ! Abnormalities of the aorta [Term] id: HP:0002648 name: Abnormality of skull shape namespace: medical_genetics def: "An abnormality of the shape of the skull." [HPO:curators] is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002650 name: Scoliosis namespace: medical_genetics alt_id: HP:0003415 def: "The presence of an abnormal lateral curvature of the spine." [HPO:curators] synonym: "Scoliosis may be present" EXACT [] is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0002651 name: Spondyloepimetaphyseal dysplasia namespace: medical_genetics is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002652 name: Skeletal dysplasia namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002653 name: Bone pain namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002654 name: Multiple epiphyseal dysplasia namespace: medical_genetics is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002655 name: Spondyloepiphyseal dysplasia namespace: medical_genetics is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002656 name: Epiphyseal dysplasia namespace: medical_genetics is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002657 name: Spondylometaphyseal dysplasia namespace: medical_genetics is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0002658 name: Stippled epiphyses namespace: medical_genetics synonym: "Epiphyseal stippling" EXACT [] is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0002659 name: Increased tendency to fractures namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002660 name: Increased fractures namespace: medical_genetics synonym: "Increased fracture rate" EXACT [] is_a: HP:0002659 ! Increased tendency to fractures [Term] id: HP:0002661 name: Painless fractures due to injury namespace: medical_genetics is_a: HP:0002659 ! Increased tendency to fractures [Term] id: HP:0002662 name: Fractures namespace: medical_genetics is_a: HP:0002659 ! Increased tendency to fractures [Term] id: HP:0002663 name: Late ossifying epiphyses namespace: medical_genetics synonym: "Delayed epiphyseal maturation" EXACT [] synonym: "Delayed epiphyseal ossification" EXACT [] synonym: "Delayed opacification of the epiphyses" EXACT [] synonym: "Detailed epiphyseal ossification" EXACT [] synonym: "Epiphyseal ossification delay" EXACT [] synonym: "Generalized epiphyseal ossification delay" EXACT [] is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0002664 name: Oncology namespace: medical_genetics is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0002665 name: Lymphoma namespace: medical_genetics is_a: HP:0004377 ! Hematological cancer [Term] id: HP:0002666 name: Pheochromocytoma namespace: medical_genetics def: "Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines." [HPO:curators] is_a: HP:0002664 ! Oncology [Term] id: HP:0002667 name: Nephroblastoma (Wilms tumor) namespace: medical_genetics alt_id: HP:0000115 synonym: "Nephroblastoma" EXACT [] synonym: "Wilm's tumor" EXACT [] synonym: "Wilms tumor" EXACT [] is_a: HP:0005933 ! Kidney cancer [Term] id: HP:0002668 name: Paragangliomas namespace: medical_genetics alt_id: HP:0002670 alt_id: HP:0003004 def: "A carotid body tumor (also called paraganglionoma or chemodectoma) is a tumor found in the upper neck at the branching of the carotid artery. They arise from the chemoreceptor organ (paraganglion) located in the adventitia of the carotid artery bifurcation." [HPO:curators] synonym: "Carotid body tumors" EXACT [] synonym: "Chemodectoma" EXACT [] synonym: "Chemodectomas" EXACT [] is_a: HP:0002664 ! Oncology is_a: HP:0004375 ! Tumors of the nervous system [Term] id: HP:0002669 name: Osteogenic sarcoma namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0002671 name: Basal cell carcinoma namespace: medical_genetics synonym: "Basal cell carcinomas" EXACT [] is_a: HP:0008069 ! Dermatological tumors [Term] id: HP:0002672 name: Gastrointestinal carcinoma namespace: medical_genetics is_a: HP:0007378 ! Gastrointestinal tract tumors [Term] id: HP:0002673 name: Coxa valga namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0002676 name: Cloverleaf skull namespace: medical_genetics is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0002677 name: Small foramen magnum namespace: medical_genetics is_a: HP:0002699 ! Abnormality of the foramen magnum [Term] id: HP:0002678 name: Skull asymmetry namespace: medical_genetics is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0002679 name: Abnormality of the sella turcica namespace: medical_genetics is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002680 name: J-shaped sella turcica namespace: medical_genetics synonym: "J-shaped sella" EXACT [] is_a: HP:0002679 ! Abnormality of the sella turcica [Term] id: HP:0002681 name: Deformed sella turcica namespace: medical_genetics is_a: HP:0002679 ! Abnormality of the sella turcica [Term] id: HP:0002682 name: Broad skull namespace: medical_genetics is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0002683 name: Abnormality of the calvaria namespace: medical_genetics comment: Roof of the skull formed by the frontal bone, parietal bones, and occipital bone. is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002684 name: Thickened calvarium namespace: medical_genetics 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 calvaria" EXACT [] synonym: "Thickened cranial vault" EXACT [] synonym: "Thickened cranium" EXACT [] synonym: "Thickening of the calvaria" EXACT [] is_a: HP:0002683 ! Abnormality of the calvaria [Term] id: HP:0002685 name: Craniosynostosis (coronal, sagittal, lambdoid sutures) namespace: medical_genetics is_a: HP:0004440 ! Coronal craniosynostosis is_a: HP:0004442 ! Sagittal craniosynostosis is_a: HP:0004443 ! Lambdoidal craniosynostosis [Term] id: HP:0002686 name: Prenatal maternal abnormality namespace: medical_genetics is_a: HP:0001197 ! Prenatal manifestations and birth abnormalities [Term] id: HP:0002687 name: Abnormality of the frontal sinuses namespace: medical_genetics is_a: HP:0000245 ! Abnormality of the sinuses [Term] id: HP:0002688 name: Absent frontal sinuses namespace: medical_genetics synonym: "Absence of frontal sinuses" EXACT [] synonym: "Absent frontal sinus" EXACT [] is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses [Term] id: HP:0002689 name: Absent paranasal sinuses namespace: medical_genetics is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses [Term] id: HP:0002690 name: Large sella turcica namespace: medical_genetics synonym: "Enlarged sella turcica" EXACT [] synonym: "Large, prominent sella turcica" EXACT [] is_a: HP:0002679 ! Abnormality of the sella turcica [Term] id: HP:0002691 name: Platybasia namespace: medical_genetics is_a: HP:0002648 ! Abnormality of skull shape [Term] id: HP:0002692 name: Hypoplastic facial bones namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0002693 name: Abnormality of the skull base namespace: medical_genetics is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002694 name: Sclerotic skull base namespace: medical_genetics synonym: "Sclerosis of skull base" EXACT [] synonym: "Sclerosis of the skull base" EXACT [] is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0002695 name: Symmetrical, oval parietal bone defects namespace: medical_genetics synonym: "Symmetrical, oval defects in the parietal bone" EXACT [] is_a: HP:0002696 ! Parietal abnormalities [Term] id: HP:0002696 name: Parietal abnormalities namespace: medical_genetics is_a: HP:0002683 ! Abnormality of the calvaria [Term] id: HP:0002697 name: Parietal foramina namespace: medical_genetics is_a: HP:0002696 ! Parietal abnormalities [Term] id: HP:0002699 name: Abnormality of the foramen magnum namespace: medical_genetics is_a: HP:0000929 ! Abnormality of the skull [Term] id: HP:0002700 name: Large foramen magnum namespace: medical_genetics synonym: "Wide foramen magnum" EXACT [] is_a: HP:0002699 ! Abnormality of the foramen magnum [Term] id: HP:0002701 name: Soft calvaria namespace: medical_genetics is_a: HP:0002683 ! Abnormality of the calvaria is_a: HP:0004331 ! Decreased skull ossification [Term] id: HP:0002703 name: Abnormality of skull ossification namespace: medical_genetics is_a: HP:0000929 ! Abnormality of the skull created_by: peter creation_date: 2008-02-28T11:53:00Z [Term] id: HP:0002704 name: Delayed closure of cranial sutures namespace: medical_genetics synonym: "Broad late closing cranial sutures" EXACT [] is_a: HP:0000270 ! Delayed closure of fontanel [Term] id: HP:0002705 name: High, narrow palate namespace: medical_genetics is_a: HP:0000218 ! High palate [Term] id: HP:0002706 name: Small shallow orbits namespace: medical_genetics is_a: HP:0000586 ! Shallow orbits [Term] id: HP:0002707 name: Palate telangiectases namespace: medical_genetics is_a: HP:0000174 ! Abnormality of palate [Term] id: HP:0002708 name: Prominent median palatal raphe namespace: medical_genetics is_a: HP:0000174 ! Abnormality of palate [Term] id: HP:0002710 name: Commissural lip pits namespace: medical_genetics is_a: HP:0000159 ! Lip abnormality [Term] id: HP:0002711 name: Exaggerated median tongue furrow namespace: medical_genetics is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0002712 name: Protruding lower lip namespace: medical_genetics is_a: HP:0000179 ! Prominent lower lip [Term] id: HP:0002713 name: Accidental injury and ulceration of the lips and tongue due to decreased sensation namespace: medical_genetics is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0002714 name: Downturned corners of mouth namespace: medical_genetics alt_id: HP:0000192 synonym: "Downturned corners of the mouth" EXACT [] synonym: "Downturned mouth" EXACT [] is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0002715 name: Immunological abnormality namespace: medical_genetics is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0002716 name: Lymphadenopathy namespace: medical_genetics is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002717 name: Abnormality of cortisol production namespace: medical_genetics comment: Cortisol is the main member of the glucocorticoid family in humans and together with aldosterone is one of the main secretions of the adrenal cortex. is_a: HP:0000849 ! Adrenocortical abnormality created_by: peter creation_date: 2008-02-25T10:41:00Z [Term] id: HP:0002718 name: Recurrent bacterial infections namespace: medical_genetics synonym: "Bacterial infections, recurrent" EXACT [] synonym: "Frequent bacterial infections" EXACT [] synonym: "Recurrent pyogenic infections" EXACT [] is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002719 name: Recurrent infections namespace: medical_genetics synonym: "Frequent infections" EXACT [] synonym: "Increased frequency of infection" EXACT [] is_a: HP:0002715 ! Immunological abnormality [Term] id: HP:0002720 name: Decreased IgA namespace: medical_genetics alt_id: HP:0005358 alt_id: HP:0005399 alt_id: HP:0005431 synonym: "Decreased immunoglobulin A" EXACT [] synonym: "Gamma-A globulin deficiency" EXACT [] synonym: "IgA deficiency" EXACT [] synonym: "Low levels of immunoglobulin A" EXACT [] is_a: HP:0004313 ! Reduced immunoglobulin levels [Term] id: HP:0002721 name: Immunodeficiency namespace: medical_genetics synonym: "Immune deficiency" EXACT [] is_a: HP:0002715 ! Immunological abnormality [Term] id: HP:0002722 name: Abscess formation in any organ namespace: medical_genetics is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002723 name: Absence of bactericidal oxidative 'respiratory burst' in phagocytes namespace: medical_genetics is_a: HP:0004311 ! Abnormality of macrophages [Term] id: HP:0002724 name: Aspergillus infections namespace: medical_genetics is_a: HP:0002841 ! Fungal infections, recurrent [Term] id: HP:0002725 name: Systemic lupus erythematosus namespace: medical_genetics is_a: HP:0002960 ! Autoimmune disease [Term] id: HP:0002726 name: Staphylococcus aureus infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0002727 name: Abnormal tendency to infections of the skin namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality created_by: peter creation_date: 2008-02-28T07:18:00Z [Term] id: HP:0002728 name: Chronic mucocutaneous candidiasis namespace: medical_genetics synonym: "Mucocutaneous candidiasis" EXACT [] is_a: HP:0002841 ! Fungal infections, recurrent [Term] id: HP:0002729 name: Lymph nodes show florid reactive follicular hyperplasia and marked paracortical expansion with immunoblasts and plasma cells namespace: medical_genetics is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002730 name: Chronic noninfectious lymphadenopathy namespace: medical_genetics is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002731 name: Defective lymphocyte apoptosis namespace: medical_genetics is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0002732 name: Small lymph nodes namespace: medical_genetics is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002733 name: Abnormality of the lymph nodes namespace: medical_genetics is_a: HP:0002715 ! Immunological abnormality [Term] id: HP:0002735 name: Lymph node hyperplasia namespace: medical_genetics is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002737 name: Thick skull base namespace: medical_genetics is_a: HP:0002693 ! Abnormality of the skull base [Term] id: HP:0002738 name: Hypoplastic frontal sinuses namespace: medical_genetics synonym: "Underdeveloped frontal sinuses" EXACT [] is_a: HP:0009119 ! Aplasia/Hypoplasia of the frontal sinuses [Term] id: HP:0002740 name: E. coli infections namespace: medical_genetics synonym: "E coli infections" EXACT [] is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0002741 name: Serratia marcescens infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0002742 name: Klebsiella infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0002743 name: Severe enteroviral infections namespace: medical_genetics is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0002744 name: Bilateral cleft lip/palate namespace: medical_genetics synonym: "Bilateral cleft lip and cleft palate" EXACT [] is_a: HP:0000202 ! Cleft lip/palate [Term] id: HP:0002745 name: Oral leukoplakia namespace: medical_genetics is_a: HP:0000163 ! Abnormality of the oral cavity [Term] id: HP:0002746 name: Submucosal cleft palate namespace: medical_genetics is_a: HP:0000208 ! Submucous cleft [Term] id: HP:0002747 name: Respiratory insufficiency due to muscle weakness namespace: medical_genetics synonym: "Decreased respiratory function due to muscle weakness" EXACT [] synonym: "Respiratory distress due to muscle weakness" EXACT [] synonym: "Respiratory failure due to muscle weakness" EXACT [] synonym: "Respiratory muscle weakness" EXACT [] synonym: "Respiratory muscle weakness, severe" EXACT [] is_a: HP:0004347 ! Abnormal weakness of muscles of respiration [Term] id: HP:0002748 name: Rickets namespace: medical_genetics is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0002749 name: Osteomalacia namespace: medical_genetics def: "Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets." [HPO:curators] is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0002750 name: Delayed skeletal maturation namespace: medical_genetics alt_id: HP:0000928 alt_id: HP:0002806 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 [] is_a: HP:0000927 ! Abnormality of skeletal maturation [Term] id: HP:0002751 name: Kyphoscoliosis namespace: medical_genetics is_a: HP:0002650 ! Scoliosis is_a: HP:0002808 ! Kyphosis [Term] id: HP:0002752 name: Sparse bone trabeculae namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002753 name: Thin bony cortex namespace: medical_genetics alt_id: HP:0003104 def: "Abnormal thinning of the cortical region of bones." [HPO:curators] synonym: "Thin cortices" EXACT [] is_a: HP:0003103 ! Abnormality of cortical bone [Term] id: HP:0002754 name: Osteomyelitis namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002755 name: Osteomyelitis due to immunodeficiency namespace: medical_genetics is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0002756 name: Pathologic fractures namespace: medical_genetics def: "A pathologic fracture occurs when a bone breaks in an area that is weakened secondary to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone." [HPO:curators] synonym: "Pathologic fracture" EXACT [] is_a: HP:0005931 ! Abnormal susceptibility to fractures [Term] id: HP:0002757 name: Multiple fractures namespace: medical_genetics synonym: "Multiple spontaneous fractures" EXACT [] is_a: HP:0002756 ! Pathologic fractures [Term] id: HP:0002758 name: Osteoarthritis namespace: medical_genetics is_a: HP:0001369 ! Arthritis [Term] id: HP:0002759 name: Arthrogryposis multiplex in severe cases namespace: medical_genetics is_a: HP:0002804 ! Arthrogryposis multiplex congenita [Term] id: HP:0002760 name: Mild dysostosis multiplex namespace: medical_genetics synonym: "Mild dysotosis multiplex" EXACT [] is_a: HP:0000943 ! Dysostosis multiplex [Term] id: HP:0002761 name: Generalized joint laxity namespace: medical_genetics is_a: HP:0001382 ! Increased mobility of joints [Term] id: HP:0002762 name: Multiple exostoses namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002763 name: Abnormality of cartilage namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002764 name: Stippled chondral calcification namespace: medical_genetics is_a: HP:0002763 ! Abnormality of cartilage [Term] id: HP:0002765 name: Irregular epiphyses namespace: medical_genetics is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0002766 name: Relatively short spine namespace: medical_genetics is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0002767 name: Recurrent fractures namespace: medical_genetics is_a: HP:0002756 ! Pathologic fractures [Term] id: HP:0002769 name: Severe kyphosis namespace: medical_genetics is_a: HP:0002808 ! Kyphosis [Term] id: HP:0002770 name: Severe scoliosis namespace: medical_genetics is_a: HP:0002650 ! Scoliosis [Term] id: HP:0002771 name: Joint laxity, mild namespace: medical_genetics synonym: "Increased joint laxity, mild" EXACT [] is_a: HP:0001388 ! Joint laxity [Term] id: HP:0002772 name: Joint dislocations namespace: medical_genetics synonym: "Recurrent joint dislocations" EXACT [] is_a: HP:0001373 ! Dislocations [Term] id: HP:0002773 name: Small vertebral bodies namespace: medical_genetics synonym: "Small vertebrae" EXACT [] is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0002776 name: Mild spondyloepiphyseal dysplasia namespace: medical_genetics synonym: "Spondyloepiphyseal dysplasia, mild" EXACT [] is_a: HP:0002655 ! Spondyloepiphyseal dysplasia [Term] id: HP:0002777 name: Tracheal stenosis namespace: medical_genetics is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0002778 name: Abnormality of the trachea namespace: medical_genetics is_a: HP:0005607 ! Abnormality of the tracheobronchial system [Term] id: HP:0002779 name: Tracheomalacia namespace: medical_genetics is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0002780 name: Bronchomalacia namespace: medical_genetics is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0002781 name: Upper airway obstruction namespace: medical_genetics is_a: HP:0002087 ! Abnormality of the airways [Term] id: HP:0002783 name: Recurrent lower respiratory tract infections namespace: medical_genetics alt_id: HP:0005955 synonym: "Chronic lung infections" EXACT [] synonym: "Lower respiratory tract infections" EXACT [] is_a: HP:0002088 ! Abnormality of the lungs is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0002785 name: Recurrent bronchitis namespace: medical_genetics is_a: HP:0002837 ! Bronchitis [Term] id: HP:0002786 name: Tracheobronchomalacia namespace: medical_genetics is_a: HP:0002109 ! Abnormality of the bronchi is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0002787 name: Tracheal calcifications namespace: medical_genetics is_a: HP:0002786 ! Tracheobronchomalacia [Term] id: HP:0002788 name: Recurrent upper respiratory tract infections namespace: medical_genetics alt_id: HP:0002784 synonym: "Recurrent upper respiratory infection" EXACT [] synonym: "Recurrent upper respiratory infections" EXACT [] synonym: "Upper respiratory tract infections" EXACT [] is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0002789 name: Tachypnea namespace: medical_genetics is_a: HP:0004346 ! Increased respiratory rate or depth of breathing [Term] id: HP:0002790 name: Neonatal breathing dysregulation namespace: medical_genetics is_a: HP:0005957 ! Breathing dysregulation [Term] id: HP:0002791 name: Hypoventilation namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002792 name: Reduced vital capacity namespace: medical_genetics synonym: "Decreased vital capacity" EXACT [] is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002793 name: Abnormal respiratory patterns namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002794 name: Apnea during seizure spells namespace: medical_genetics synonym: "Apnea during seizures" EXACT [] is_a: HP:0002104 ! Apnea [Term] id: HP:0002795 name: Functional respiratory abnormality namespace: medical_genetics comment: This category describes not-primarily structural lesions. is_a: HP:0002086 ! Respiratory abnormality [Term] id: HP:0002796 name: Osteosclerosis namespace: medical_genetics def: "Osteosclerosis refers to an abnormal increase in bone density." [HPO:curators] is_a: HP:0004350 ! Increased bone mineral density [Term] id: HP:0002797 name: Osteolysis namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002798 name: Bone fragility namespace: medical_genetics def: "An abnormal reduction in bone strength that is generally associated with an increased risk of fracture." [HPO:curators] synonym: "Increased bone fragility" EXACT [] is_a: HP:0005931 ! Abnormal susceptibility to fractures [Term] id: HP:0002799 name: Mild osteopenia namespace: medical_genetics def: "Mild degree of osteopenia." [HPO:curators] is_a: HP:0000938 ! Osteopenia [Term] id: HP:0002801 name: Duplicated thumb namespace: medical_genetics alt_id: HP:0004067 synonym: "Digitalization of thumb" EXACT [] synonym: "Digitalization of thumbs" EXACT [] synonym: "Duplication of thumb phalanges" EXACT [] is_a: HP:0009604 ! Polydactyly affecting the 1st finger [Term] id: HP:0002803 name: Congenital contractures namespace: medical_genetics synonym: "Congenital joint contractures" EXACT [] is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002804 name: Arthrogryposis multiplex congenita namespace: medical_genetics synonym: "Arthrogryposis multiplex" EXACT [] is_a: HP:0002803 ! Congenital contractures [Term] id: HP:0002805 name: Accelerated bone age after puberty namespace: medical_genetics is_a: HP:0005616 ! Accelerated skeletal maturation [Term] id: HP:0002808 name: Kyphosis namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0002809 name: Varying degree of multiple fractures namespace: medical_genetics is_a: HP:0002756 ! Pathologic fractures [Term] id: HP:0002810 name: Dumbbell-shaped metaphyses namespace: medical_genetics synonym: "Dumbbell shaped metaphyses" EXACT [] is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0002811 name: Numerous multiple fractures present at birth namespace: medical_genetics synonym: "Multiple fractures present at birth" EXACT [] synonym: "Multiple fractures, present at birth" EXACT [] synonym: "Numerous multiple fractures that are present at birth" EXACT [] is_a: HP:0002756 ! Pathologic fractures [Term] id: HP:0002812 name: Coxa vara namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0002813 name: Abnormality of the extremities namespace: medical_genetics synonym: "Limb abnormality" EXACT [] is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002814 name: Abnormality of the lower limbs namespace: medical_genetics synonym: "Lower limb deformities" EXACT [] is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0002815 name: Abnormality of the knees namespace: medical_genetics is_a: HP:0002814 ! Abnormality of the lower limbs [Term] id: HP:0002816 name: Genu recurvatum namespace: medical_genetics synonym: "Genu recurvata" EXACT [] is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0002817 name: Abnormality of the upper limbs namespace: medical_genetics alt_id: HP:0003838 is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0002818 name: Abnormality of the radius namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0002820 name: Large hands and feet namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0002821 name: Neuropathic arthropathy namespace: medical_genetics is_a: HP:0003040 ! Arthropathy [Term] id: HP:0002822 name: Hyperplastic femoral trochanters namespace: medical_genetics is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0002823 name: Abnormality of the femora namespace: medical_genetics is_a: HP:0001439 ! Abnormality of the thigh [Term] id: HP:0002824 name: Early onset osteoarthritis namespace: medical_genetics synonym: "Early-onset osteoarthritis" EXACT [] synonym: "Osteoarthritis, early-onset" EXACT [] is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0002825 name: Coccygeal tail namespace: medical_genetics is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0002826 name: Halberd-shaped pelvis namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0002827 name: Dislocated hips namespace: medical_genetics alt_id: HP:0001375 synonym: "Dislocation of hip" EXACT [] synonym: "Hip dislocation" EXACT [] synonym: "Hip subluxation" EXACT [] is_a: HP:0001373 ! Dislocations is_a: HP:0001384 ! Abnormality of the hip joints is_a: HP:0003272 ! Abnormality of the hips [Term] id: HP:0002828 name: Multiple joint contractures namespace: medical_genetics is_a: HP:0001372 ! Joint contractures [Term] id: HP:0002829 name: Arthralgia namespace: medical_genetics synonym: "Arthralgias" EXACT [] synonym: "Joint pain" EXACT [] is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0002831 name: Long coccyx namespace: medical_genetics is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0002832 name: Calcific stippling namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0002833 name: Lytic cystic lesions in appendicular bones (occurs after puberty) namespace: medical_genetics synonym: "Lytic cystic lesions in appendicular bones" EXACT [] is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0002834 name: Flared femurs and humeri namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0002835 name: Aspiration namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002836 name: Bladder exstrophy namespace: medical_genetics is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0002837 name: Bronchitis namespace: medical_genetics is_a: HP:0002788 ! Recurrent upper respiratory tract infections [Term] id: HP:0002838 name: Lower urinary tract dilatation may occur over time namespace: medical_genetics is_a: HP:0000021 ! Lower urinary tract dilatation [Term] id: HP:0002839 name: Sphincter disturbances (bladder) namespace: medical_genetics is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0002840 name: Lymphadenitis namespace: medical_genetics is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0002841 name: Fungal infections, recurrent namespace: medical_genetics is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002842 name: Burkholderia cepacia infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0002843 name: Abnormality of T-cells namespace: medical_genetics alt_id: HP:0002734 synonym: "Cellular immune defect" EXACT [] synonym: "Defective cellular immunity" EXACT [] is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0002844 name: Variable degree of T cell dysfunction namespace: medical_genetics is_a: HP:0005435 ! Impaired T cell function [Term] id: HP:0002845 name: Increased number of peripheral CD3+ T cells namespace: medical_genetics is_a: HP:0002843 ! Abnormality of T-cells [Term] id: HP:0002846 name: Abnormality of B-cells namespace: medical_genetics is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0002847 name: Primary dysfunction of B-lymphocyte isotype switching and memory B-cell generation namespace: medical_genetics is_a: HP:0002846 ! Abnormality of B-cells [Term] id: HP:0002848 name: Moderately depressed antibody response to polysaccharide antigens namespace: medical_genetics is_a: HP:0004313 ! Reduced immunoglobulin levels [Term] id: HP:0002849 name: Lymph nodes lack germinal centers namespace: medical_genetics 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: Decreased IgM namespace: medical_genetics is_a: HP:0004313 ! Reduced immunoglobulin levels [Term] id: HP:0002851 name: Increased number of CD4-/CD8- T cells expressing alpha/beta T-cell receptors namespace: medical_genetics is_a: HP:0002843 ! Abnormality of T-cells [Term] id: HP:0002852 name: Hyperglobulinemia namespace: medical_genetics is_a: HP:0004314 ! Increased immunoglobulin levels [Term] id: HP:0002853 name: Increased proportion of HLA DR+ and CD57+ T cells namespace: medical_genetics is_a: HP:0002843 ! Abnormality of T-cells [Term] id: HP:0002854 name: Serum IgA, IgG, and IgE severely deficient namespace: medical_genetics is_a: HP:0002720 ! Decreased IgA is_a: HP:0004315 ! Decreased IgG is_a: HP:0005479 ! Decreased IgE [Term] id: HP:0002855 name: Abnormality of aldosterone production namespace: medical_genetics is_a: HP:0000849 ! Adrenocortical abnormality created_by: peter creation_date: 2008-02-25T10:42:00Z [Term] id: HP:0002856 name: Absent B cells namespace: medical_genetics is_a: HP:0002846 ! Abnormality of B-cells [Term] id: HP:0002857 name: Genu valgum namespace: medical_genetics synonym: "Genu valga" EXACT [] synonym: "Genu valgus" EXACT [] synonym: "Genua valga" EXACT [] is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0002858 name: Meningioma namespace: medical_genetics is_a: HP:0004375 ! Tumors of the nervous system [Term] id: HP:0002859 name: Rhabdomyosarcoma namespace: medical_genetics is_a: HP:0009728 ! Tumors of striated muscle [Term] id: HP:0002860 name: Squamous cell carcinoma namespace: medical_genetics is_a: HP:0008069 ! Dermatological tumors [Term] id: HP:0002861 name: Malignant melanoma namespace: medical_genetics alt_id: HP:0002887 alt_id: HP:0007474 def: "A malignant skin tumor of originating from melanocytes, pigment cells normally present in the epidermis and sometimes in the dermis." [HPO:curators] synonym: "Cutaneous malignant melanoma" EXACT [] synonym: "Melanoma" EXACT [] is_a: HP:0008069 ! Dermatological tumors [Term] id: HP:0002862 name: Bladder carcinoma namespace: medical_genetics is_a: HP:0009725 ! Bladder tumors [Term] id: HP:0002863 name: Myelodysplasia namespace: medical_genetics is_a: HP:0004377 ! Hematological cancer [Term] id: HP:0002864 name: Paragangliomas, head and neck namespace: medical_genetics is_a: HP:0002668 ! Paragangliomas [Term] id: HP:0002865 name: Medullary thyroid carcinoma namespace: medical_genetics is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0002866 name: Hypoplastic iliac wings namespace: medical_genetics synonym: "Hypoplastic iliac alae" EXACT [] synonym: "Hypoplastic iliac wing" EXACT [] is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0002867 name: Iliac abnormalities namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0002868 name: Narrow iliac wings namespace: medical_genetics is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0002869 name: Flared iliac wings namespace: medical_genetics synonym: "Flared iliac wing" EXACT [] is_a: HP:0002867 ! Iliac abnormalities [Term] id: HP:0002870 name: Obstructive sleep apnea namespace: medical_genetics is_a: HP:0002104 ! Apnea [Term] id: HP:0002871 name: Central apnea namespace: medical_genetics is_a: HP:0002104 ! Apnea [Term] id: HP:0002872 name: Apneic episodes precipitated by illness, fatigue, stress namespace: medical_genetics synonym: "Ataxia, episodic, occurring after febrile illness or stress" EXACT [] is_a: HP:0002104 ! Apnea [Term] id: HP:0002873 name: Recurrent upper and lower respiratory tract infections namespace: medical_genetics synonym: "Frequent upper and lower respiratory tract infections" EXACT [] is_a: HP:0002783 ! Recurrent lower respiratory tract infections is_a: HP:0002788 ! Recurrent upper respiratory tract infections [Term] id: HP:0002874 name: Polypnea namespace: medical_genetics is_a: HP:0004346 ! Increased respiratory rate or depth of breathing [Term] id: HP:0002875 name: Exertional dyspnea namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002876 name: Tachypnea, episodic namespace: medical_genetics alt_id: HP:0002881 synonym: "Hyperpnea, episodic" EXACT [] is_a: HP:0002789 ! Tachypnea [Term] id: HP:0002877 name: Nocturnal hypoventilation namespace: medical_genetics is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0002878 name: Early respiratory failure namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002879 name: Anisospondyly namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0002880 name: Respiratory difficulties namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0002882 name: Sudden episodic apnea, severe, may cause death namespace: medical_genetics is_a: HP:0005936 ! Apneic episodes [Term] id: HP:0002883 name: Hyperventilation namespace: medical_genetics is_a: HP:0004346 ! Increased respiratory rate or depth of breathing [Term] id: HP:0002884 name: Hepatoblastoma namespace: medical_genetics is_a: HP:0002896 ! Liver cancer [Term] id: HP:0002885 name: Medulloblastoma namespace: medical_genetics 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. is_a: HP:0004375 ! Tumors of the nervous system [Term] id: HP:0002886 name: Vagal nerve tumors (glomus vagale) namespace: medical_genetics synonym: "Vagal nerve tumors" EXACT [] is_a: HP:0004375 ! Tumors of the nervous system [Term] id: HP:0002888 name: Ependymoma namespace: medical_genetics is_a: HP:0009733 ! Glioma [Term] id: HP:0002889 name: Adrenal carcinoma namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0002890 name: Thyroid carcinoma namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0002891 name: Uterine leiomyosarcoma namespace: medical_genetics is_a: HP:0007379 ! Genitourinary tract tumors [Term] id: HP:0002892 name: Tympanic nerve tumors (glomus tympanicum) namespace: medical_genetics is_a: HP:0006715 ! Tympanic nerve tumors [Term] id: HP:0002893 name: Pituitary adenoma namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0002894 name: Pancreatic cancer namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0002895 name: Papillary thyroid carcinoma namespace: medical_genetics synonym: "Papillary carcinoma of thyroid" EXACT [] synonym: "Thyroid papillary carcinoma" EXACT [] is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0002896 name: Liver cancer namespace: medical_genetics is_a: HP:0007378 ! Gastrointestinal tract tumors [Term] id: HP:0002897 name: Parathyroid adenoma namespace: medical_genetics synonym: "Parathyroid adenomas" EXACT [] is_a: HP:0002664 ! Oncology [Term] id: HP:0002898 name: Embryonal tumors namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0002899 name: ncreased incidence of hepatocellular carcinoma namespace: medical_genetics is_a: HP:0002896 ! Liver cancer [Term] id: HP:0002900 name: Hypokalemia namespace: medical_genetics is_a: HP:0003111 ! Serum electrolyte abnormality [Term] id: HP:0002901 name: Hypocalcemia namespace: medical_genetics is_a: HP:0003253 ! Electrolyte disorders [Term] id: HP:0002902 name: Hyponatremia namespace: medical_genetics is_a: HP:0003111 ! Serum electrolyte abnormality [Term] id: HP:0002903 name: Aminoaciduria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0002904 name: Hyperbilirubinemia namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0002905 name: Hyperphosphatemia namespace: medical_genetics is_a: HP:0003111 ! Serum electrolyte abnormality [Term] id: HP:0002907 name: Microscopic hematuria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0002908 name: Conjugated hyperbilirubinemia namespace: medical_genetics is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0002909 name: Generalized aminoaciduria namespace: medical_genetics is_a: HP:0002903 ! Aminoaciduria [Term] id: HP:0002910 name: Elevated transaminases namespace: medical_genetics synonym: "Elevated hepatic transaminases" EXACT [] synonym: "Elevated serum transaminases" EXACT [] synonym: "Increased transaminases" EXACT [] is_a: HP:0001411 ! Abnormal liver function tests [Term] id: HP:0002912 name: Methylmalonic acidemia namespace: medical_genetics comment: Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. is_a: HP:0004341 ! Abnormality of vitamin B12 metabolism [Term] id: HP:0002913 name: Myoglobinuria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0002914 name: Increased urinary chloride namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0002915 name: Multiple chromosomal breaks namespace: medical_genetics is_a: HP:0003220 ! Tendency to chromosomal breakage [Term] id: HP:0002916 name: Abnormality of the chromosomes namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0002917 name: Hypomagnesemia namespace: medical_genetics is_a: HP:0003111 ! Serum electrolyte abnormality [Term] id: HP:0002918 name: Hypermagnesemia namespace: medical_genetics is_a: HP:0003111 ! Serum electrolyte abnormality [Term] id: HP:0002919 name: Ketonuria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0002920 name: Decreased serum ACTH namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0002921 name: Abnormal CSF findings namespace: medical_genetics is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0002922 name: Increased CSF protein namespace: medical_genetics synonym: "Cerebrospinal fluid protein increased" EXACT [] synonym: "Cerebrospinal fluid with increased protein" EXACT [] synonym: "Elevated cerebrospinal fluid protein" EXACT [] synonym: "Elevated csf protein" EXACT [] synonym: "Increased protein in csf" EXACT [] synonym: "Spinal fluid protein elevated" EXACT [] is_a: HP:0002921 ! Abnormal CSF findings [Term] id: HP:0002923 name: Rheumatoid factor positive namespace: medical_genetics is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0002924 name: Decreased serum aldosterone namespace: medical_genetics synonym: "Decreased aldosterone" EXACT [] is_a: HP:0003350 ! Abnormality of the renin-aldosterone axis [Term] id: HP:0002925 name: Increased serum thyroid-stimulating hormone (TSH) namespace: medical_genetics synonym: "Elevated thyroid stimulating hormone" EXACT [] synonym: "Elevated thyroid stimulating hormone levels" EXACT [] synonym: "High TSH" EXACT [] synonym: "Increased serum thyroid-stimulating hormone" EXACT [] synonym: "Increased thyroid-stimulating hormone" EXACT [] is_a: HP:0002926 ! Abnormality of thyroid laboratory results [Term] id: HP:0002926 name: Abnormality of thyroid laboratory results namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0002927 name: Histidinuria namespace: medical_genetics is_a: HP:0002903 ! Aminoaciduria [Term] id: HP:0002928 name: Decreased activity of the pyruvate dehydrogenase (PDH) complex namespace: medical_genetics synonym: "Pyruvate dehydrogenase complex deficiency" EXACT [] is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0002929 name: Leydig cell insensitivity to gonadotropin namespace: medical_genetics is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0002930 name: Thyroid hormone receptor defect namespace: medical_genetics is_a: HP:0002926 ! Abnormality of thyroid laboratory results [Term] id: HP:0002931 name: Glycinuria namespace: medical_genetics is_a: HP:0002903 ! Aminoaciduria [Term] id: HP:0002932 name: Aldehyde oxidase deficiency namespace: medical_genetics comment: Aldehyde oxidase generates carboxylic acids from aldehydes. is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism [Term] id: HP:0002933 name: Ventral hernia namespace: medical_genetics is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0002934 name: Distal limb muscle atrophy due to peripheral neuropathy namespace: medical_genetics is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0002935 name: Distal limb muscle weakness due to peripheral neuropathy namespace: medical_genetics synonym: "Distal limb muscular weakness due to peripheral neuropathy" EXACT [] synonym: "Distal muscle wasting due to peripheral neuropathy" EXACT [] synonym: "Distal muscle weakness due to peripheral neuropathy" EXACT [] is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0002936 name: Distal sensory impairment namespace: medical_genetics synonym: "Decreased distal sensation" EXACT [] synonym: "Distal sensory loss" EXACT [] synonym: "Loss of distal sensation" EXACT [] is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0002937 name: Hemivertebrae namespace: medical_genetics synonym: "Hemivertebra" EXACT [] is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0002938 name: Lumbar hyperlordosis namespace: medical_genetics synonym: "Lumbar lordosis" EXACT [] synonym: "Marked lumbar lordosis" EXACT [] synonym: "Severe lumbar lordosis" EXACT [] is_a: HP:0002939 ! Lordosis [Term] id: HP:0002939 name: Lordosis namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0002940 name: Mild platyspondyly namespace: medical_genetics alt_id: HP:0008466 synonym: "Platyspondyly, mild" EXACT [] is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0002941 name: Increased lumbar lordosis namespace: medical_genetics synonym: "Exaggerated lumbar lordosis" EXACT [] synonym: "Prominent lumbar lordosis" EXACT [] synonym: "Pronounced lumbar lordosis" EXACT [] is_a: HP:0002939 ! Lordosis [Term] id: HP:0002942 name: Thoracic kyphosis namespace: medical_genetics synonym: "Accentuated thoracic kyphosis" EXACT [] synonym: "Exaggerated thoracic kyphosis" EXACT [] is_a: HP:0002808 ! Kyphosis [Term] id: HP:0002943 name: Thoracic scoliosis namespace: medical_genetics is_a: HP:0002942 ! Thoracic kyphosis [Term] id: HP:0002944 name: Thoracolumbar scoliosis namespace: medical_genetics is_a: HP:0002650 ! Scoliosis [Term] id: HP:0002945 name: Narrow intervertebral spaces namespace: medical_genetics synonym: "Narrow intervertebral disc spaces" EXACT [] is_a: HP:0005108 ! Abnormality of the intervertebral disks [Term] id: HP:0002946 name: Supernumerary vertebrae namespace: medical_genetics is_a: HP:0003468 ! Abnormalities of the vertebrae is_a: HP:0009144 ! Supernumerary bones of the axial skeleton [Term] id: HP:0002947 name: Cervical kyphosis namespace: medical_genetics is_a: HP:0002808 ! Kyphosis [Term] id: HP:0002948 name: Vertebral fusion namespace: medical_genetics alt_id: HP:0002807 alt_id: HP:0008485 synonym: "Fused vertebrae" EXACT [] synonym: "Fusion of vertebral bodies" EXACT [] synonym: "Spinal fusion" EXACT [] synonym: "Vertebral body fusion" EXACT [] is_a: HP:0003468 ! Abnormalities of the vertebrae [Term] id: HP:0002949 name: Fused cervical vertebrae namespace: medical_genetics synonym: "Cervical vertebral fusion" EXACT [] synonym: "Fusion of cervical vertebrae" EXACT [] is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0002951 name: Partial or complete absence of cerebellar vermis namespace: medical_genetics is_a: HP:0002335 ! Agenesis of cerebellar vermis [Term] id: HP:0002952 name: Codfish vertebrae namespace: medical_genetics synonym: "Biconcave 'codfish' vertebrae" EXACT [] is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0002953 name: Vertebral compression fractures namespace: medical_genetics synonym: "Fractures of vertebral bodies" EXACT [] synonym: "Vertebral body compression" EXACT [] synonym: "Vertebral collapse" EXACT [] synonym: "Vertebral compression" EXACT [] synonym: "Vertebral compression or collapse" EXACT [] is_a: HP:0003468 ! Abnormalities of the vertebrae [Term] id: HP:0002955 name: Tissue biopsy shows granulomas namespace: medical_genetics is_a: HP:0004311 ! Abnormality of macrophages [Term] id: HP:0002956 name: Low plasma cells number in bone marrow namespace: medical_genetics comment: Plasma B cells differentiate from B cells and secrete large amounts of antibodies. is_a: HP:0002846 ! Abnormality of B-cells [Term] id: HP:0002957 name: Predisposition to severe infections namespace: medical_genetics alt_id: HP:0005405 synonym: "Frequent, severe infections" EXACT [] is_a: HP:0002719 ! Recurrent infections is_a: HP:0002964 ! Susceptibility to infection [Term] id: HP:0002958 name: Immune dysregulation namespace: medical_genetics is_a: HP:0002715 ! Immunological abnormality [Term] id: HP:0002959 name: Impaired Ig class switch recombination (CSR) namespace: medical_genetics synonym: "Impaired ig class switch recombination" EXACT [] synonym: "Impaired ig class-switch recombination" EXACT [] is_a: HP:0002846 ! Abnormality of B-cells [Term] id: HP:0002960 name: Autoimmune disease namespace: medical_genetics synonym: "Autoimmune disorders" EXACT [] is_a: HP:0002715 ! Immunological abnormality [Term] id: HP:0002961 name: Dysgammaglobulinemia namespace: medical_genetics is_a: HP:0002846 ! Abnormality of B-cells [Term] id: HP:0002962 name: Normal or increased IgM namespace: medical_genetics is_a: HP:0004436 ! Elevated IgA [Term] id: HP:0002963 name: Abnormal delayed hypersensitivity skin test namespace: medical_genetics comment: This is an immune function test measuring the presence of activated T cells that recognize a certain substance. is_a: HP:0002843 ! Abnormality of T-cells [Term] id: HP:0002964 name: Susceptibility to infection namespace: medical_genetics is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0002965 name: Cutaneous anergy namespace: medical_genetics comment: Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected. is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0002967 name: Cubitus valgus namespace: medical_genetics comment: Abnormality in which the elbows are turned out. is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0002968 name: Rhizomelic shortening namespace: medical_genetics synonym: "Rhizomelia" EXACT [] synonym: "Rhizomelic limb shortening" EXACT [] synonym: "Rhizomelic short limbs" EXACT [] synonym: "Symmetrical rhizomelic limb shortening" EXACT [] is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0002970 name: Genu varum namespace: medical_genetics synonym: "Genu vara" EXACT [] synonym: "Genua vara" EXACT [] is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0002971 name: Absent microvilli on the surface of peripheral blood lymphocytes namespace: medical_genetics is_a: HP:0004332 ! Abnormality of lymphocytes [Term] id: HP:0002972 name: Reduced delayed hypersensitivity namespace: medical_genetics synonym: "Deficiency of delayed skin hypersensitivity" EXACT [] synonym: "Impaired delayed hypersensitivity" EXACT [] is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0002973 name: Abnormality of the forearm namespace: medical_genetics is_a: HP:0002817 ! Abnormality of the upper limbs [Term] id: HP:0002974 name: Radioulnar synostosis namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0002976 name: Curvatures of the femur, tibia, fibula namespace: medical_genetics is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0002977 name: Aplasia/Hypoplasia involving the central nervous system namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system created_by: peter creation_date: 2008-03-31T05:13:00Z [Term] id: HP:0002978 name: Knee contractures namespace: medical_genetics synonym: "Contractures of knees" EXACT [] synonym: "Contractures of the knees" EXACT [] synonym: "Flexion contracture of knees" EXACT [] synonym: "Flexion contractures of knees" EXACT [] synonym: "Knee contracture" EXACT [] synonym: "Knee flexion contracture" EXACT [] synonym: "Knee flexion contractures" EXACT [] is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0002979 name: Bowing of the legs namespace: medical_genetics synonym: "Bowed legs" EXACT [] synonym: "Bowed lower limbs" EXACT [] is_a: HP:0002814 ! Abnormality of the lower limbs is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0002980 name: Femoral bowing namespace: medical_genetics is_a: HP:0002823 ! Abnormality of the femora is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0002981 name: Abnormality of the calves namespace: medical_genetics is_a: HP:0002814 ! Abnormality of the lower limbs [Term] id: HP:0002982 name: Tibial bowing namespace: medical_genetics alt_id: HP:0006363 synonym: "Bowed tibia" EXACT [] synonym: "Bowing of the tibia" EXACT [] is_a: HP:0002979 ! Bowing of the legs is_a: HP:0002992 ! Abnormality of the tibia [Term] id: HP:0002983 name: Micromelia namespace: medical_genetics is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0002984 name: Hypoplastic radius namespace: medical_genetics synonym: "Hypoplastic radii" EXACT [] synonym: "Radial hypoplasia" EXACT [] is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius [Term] id: HP:0002985 name: Short fibulae namespace: medical_genetics alt_id: HP:0006401 synonym: "Fibulae, relatively short" EXACT [] synonym: "Short fibula" EXACT [] is_a: HP:0003038 ! Fibular hypoplasia [Term] id: HP:0002986 name: Radial bowing namespace: medical_genetics synonym: "Bowed radii" EXACT [] synonym: "Bowed radius" EXACT [] is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003956 ! Bowed forearm bones [Term] id: HP:0002987 name: Elbow contractures namespace: medical_genetics synonym: "Contractures of elbows" EXACT [] synonym: "Contractures of the elbows" EXACT [] synonym: "Elbow contracture" EXACT [] synonym: "Elbow flexion contracture" EXACT [] synonym: "Elbow flexion contractures" EXACT [] is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0002990 name: Absent fibulae namespace: medical_genetics alt_id: HP:0006373 synonym: "Absent-hypoplastic fibulae" EXACT [] synonym: "Fibular aplasia" EXACT [] is_a: HP:0003038 ! Fibular hypoplasia is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula [Term] id: HP:0002991 name: Abnormality of the fibula namespace: medical_genetics is_a: HP:0002981 ! Abnormality of the calves [Term] id: HP:0002992 name: Abnormality of the tibia namespace: medical_genetics def: "Abnormality of the tibia (shinbone)." [HPO:curators] is_a: HP:0002981 ! Abnormality of the calves [Term] id: HP:0002993 name: Short tibia namespace: medical_genetics synonym: "Short tibiae" EXACT [] is_a: HP:0002992 ! Abnormality of the tibia [Term] id: HP:0002995 name: Short radius namespace: medical_genetics synonym: "Short radii" EXACT [] is_a: HP:0002984 ! Hypoplastic radius is_a: HP:0009821 ! Hypoplasia involving forearm bones [Term] id: HP:0002996 name: Limited elbow movement namespace: medical_genetics alt_id: HP:0006395 synonym: "Decreased elbow mobility" EXACT [] synonym: "Limited elbow mobility" EXACT [] synonym: "Restricted elbow motion" EXACT [] is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0002997 name: Abnormality of the ulna namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0002998 name: Short ulna namespace: medical_genetics synonym: "Short ulnae" EXACT [] is_a: HP:0003022 ! Ulnar hypoplasia is_a: HP:0009821 ! Hypoplasia involving forearm bones [Term] id: HP:0002999 name: Dislocation of patella namespace: medical_genetics synonym: "Dislocated patellae" EXACT [] synonym: "Patellar dislocation" EXACT [] synonym: "Patellar subluxation" EXACT [] synonym: "Subluxation of patella" EXACT [] is_a: HP:0003045 ! Abnormality of the patella [Term] id: HP:0003000 name: Slipped capital femoral epiphyses namespace: medical_genetics synonym: "Slipped capilal femoral epiphysis" EXACT [] is_a: HP:0006499 ! Abnormality of femoral epiphyses [Term] id: HP:0003001 name: Glomus jugular tumors namespace: medical_genetics synonym: "Glomus jugulare tumor" EXACT [] synonym: "Glomus jugulare tumors" EXACT [] is_a: HP:0002668 ! Paragangliomas [Term] id: HP:0003002 name: Breast cancer namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0003003 name: Colon cancer namespace: medical_genetics is_a: HP:0007378 ! Gastrointestinal tract tumors [Term] id: HP:0003005 name: Ganglioneuroma namespace: medical_genetics comment: Ganglioneuromas and ganglioneuroblastomas are tumors of the sympathetic nervous system. They originate from neural crest sympathogonia, which are completely undifferentiated cells of the sympathetic nervous system. is_a: HP:0004376 ! Neuroblastic tumors [Term] id: HP:0003006 name: Neuroblastoma namespace: medical_genetics is_a: HP:0004376 ! Neuroblastic tumors [Term] id: HP:0003007 name: Increased incidence of hepatocellular carcinoma namespace: medical_genetics is_a: HP:0002896 ! Liver cancer [Term] id: HP:0003008 name: Multiple tumors namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0003009 name: Enhanced neurotoxicity of vincristine namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0003010 name: Prolonged bleeding time namespace: medical_genetics synonym: "Increased bleeding time" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003011 name: Abnormality of musculature namespace: medical_genetics alt_id: HP:0003197 def: "Abnormality originating in one or more muscles." [HPO:curators] synonym: "Muscular abnormality" EXACT [] is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0003012 name: Lymphatic abnormalities namespace: medical_genetics is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0003013 name: 'Bulging' epiphyses namespace: medical_genetics is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0003014 name: Short humeri namespace: medical_genetics alt_id: HP:0003064 synonym: "Short humerus" EXACT [] synonym: "Short upper arms" EXACT [] is_a: HP:0005792 ! Humeral hypoplasia [Term] id: HP:0003015 name: Metaphyseal flaring namespace: medical_genetics synonym: "Metaphyseal splaying" EXACT [] is_a: HP:0003016 ! Widened metaphyses [Term] id: HP:0003016 name: Widened metaphyses namespace: medical_genetics synonym: "Metaphyseal widening" EXACT [] synonym: "Wide metaphyses" EXACT [] is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003017 name: Frayed, irregular metaphyses namespace: medical_genetics synonym: "Frayed, irregular, metaphyses" EXACT [] is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0003018 name: Widened, distorted epiphyses namespace: medical_genetics is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0003019 name: Abnormality of the wrist namespace: medical_genetics alt_id: HP:0001224 def: "Abnormalitly of the wrist, the structure connecting the hand and the forearm." [HPO:curators] synonym: "Abnormalities of the wrists" EXACT [] is_a: HP:0009810 ! Abnormality of the joints of the upper limbs [Term] id: HP:0003020 name: Enlargement of the wrists namespace: medical_genetics is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003021 name: Metaphyseal cupping namespace: medical_genetics def: "Metaphyseal cupping refers to an inward bulging of the metaphyseal profile giving the metaphysis a cup-like appearance." [HPO:curators] is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003022 name: Ulnar hypoplasia namespace: medical_genetics alt_id: HP:0005842 synonym: "Hypoplastic ulna" EXACT [] is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna [Term] id: HP:0003023 name: Bowing of limbs due to multiple fractures namespace: medical_genetics synonym: "Bowed limbs due to multiple fractures" EXACT [] is_a: HP:0002659 ! Increased tendency to fractures [Term] id: HP:0003025 name: Irregular metaphyses namespace: medical_genetics synonym: "Metaphyseal irregularities" EXACT [] synonym: "Metaphyseal irregularity" EXACT [] is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003026 name: Short long bones namespace: medical_genetics is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0003027 name: Mesomelia namespace: medical_genetics 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 [] is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0003028 name: Abnormality of the ankles namespace: medical_genetics is_a: HP:0002814 ! Abnormality of the lower limbs [Term] id: HP:0003029 name: Enlargement of the ankles namespace: medical_genetics is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0003030 name: Severe micromelia namespace: medical_genetics is_a: HP:0002983 ! Micromelia [Term] id: HP:0003031 name: Bowed ulna namespace: medical_genetics synonym: "Ulnar bowing" EXACT [] is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003956 ! Bowed forearm bones [Term] id: HP:0003032 name: Short femoral neck namespace: medical_genetics alt_id: HP:0008793 def: "An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:curators] synonym: "Short femoral necks" EXACT [] synonym: "Short, hypoplastic femoral necks" EXACT [] is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0003033 name: Mild joint stiffness namespace: medical_genetics is_a: HP:0001387 ! Joint stiffness [Term] id: HP:0003034 name: Diaphyseal sclerosis namespace: medical_genetics is_a: HP:0000940 ! Abnormality of the diaphyses [Term] id: HP:0003037 name: Enlarged joints namespace: medical_genetics is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0003038 name: Fibular hypoplasia namespace: medical_genetics alt_id: HP:0005887 synonym: "Hypoplastic fibula" EXACT [] is_a: HP:0006492 ! Aplasia/Hypoplasia of the fibula [Term] id: HP:0003039 name: Small, irregular epiphyses namespace: medical_genetics synonym: "Irregular, small epiphyses" EXACT [] is_a: HP:0002765 ! Irregular epiphyses [Term] id: HP:0003040 name: Arthropathy namespace: medical_genetics is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0003041 name: Radiohumeral synostosis namespace: medical_genetics synonym: "Radiohumeral synostosis of elbow" EXACT [] synonym: "Synostosis of radius and humerus" EXACT [] is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003042 name: Elbow dislocation namespace: medical_genetics def: "A dislocation affecting the elbow joint, where the radius, ulna, and humerus meet." [HPO:curators] synonym: "Dislocations of the elbows" EXACT [] synonym: "Elbow dislocations" EXACT [] is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003043 name: Abnormality of the shoulder namespace: medical_genetics is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0009810 ! Abnormality of the joints of the upper limbs [Term] id: HP:0003044 name: Shoulder contractures namespace: medical_genetics is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003045 name: Abnormality of the patella namespace: medical_genetics synonym: "Patellar abnormality" EXACT [] is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0003047 name: Metaphyseal flaring of long bones namespace: medical_genetics alt_id: HP:0005095 synonym: "marked metaphyseal flaring of long bones" EXACT [] is_a: HP:0003015 ! Metaphyseal flaring [Term] id: HP:0003048 name: Radial head subluxation namespace: medical_genetics synonym: "Radial subluxation" EXACT [] synonym: "Radial-head subluxation" EXACT [] is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0003049 name: Ulnar deviation of the wrist namespace: medical_genetics synonym: "Ulnar deviation of wrists" EXACT [] is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003050 name: Split-hand namespace: medical_genetics synonym: "Split hand" EXACT [] is_a: HP:0001171 ! Ectrodactyly [Term] id: HP:0003051 name: Enlarged metaphyses namespace: medical_genetics is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0003052 name: Genu varus namespace: medical_genetics is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0003053 name: Epiphyseal deformities of tubular bones namespace: medical_genetics is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0003054 name: Short, bowed limbs namespace: medical_genetics is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0003055 name: Large epiphyses namespace: medical_genetics synonym: "Enlarged epiphyses" EXACT [] is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0003057 name: Tetra-amelia namespace: medical_genetics is_a: HP:0009827 ! Amelia [Term] id: HP:0003059 name: Abnormality of the radioulnar joints namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003060 name: Thin, gracile long bones namespace: medical_genetics synonym: "Long bones slender" EXACT [] synonym: "Slender, gracile long tubular bones" EXACT [] synonym: "Thin gracile long bones" EXACT [] is_a: HP:0003061 ! Gracile long bones [Term] id: HP:0003061 name: Gracile long bones namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0003063 name: Abnormality of the humeri namespace: medical_genetics alt_id: HP:0002988 synonym: "Abnormality of the humerus" EXACT [] is_a: HP:0001454 ! Abnormality of the upper arm [Term] id: HP:0003065 name: Patellar hypoplasia namespace: medical_genetics alt_id: HP:0005020 synonym: "Hypoplastic patellae" EXACT [] is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella [Term] id: HP:0003066 name: Limited knee extension namespace: medical_genetics is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0003067 name: Madelung deformity namespace: medical_genetics synonym: "Madelung wrist deformity" EXACT [] is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003068 name: Madelung-like forearm deformities namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003070 name: Elbow ankylosis namespace: medical_genetics is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003071 name: Flattened epiphyses namespace: medical_genetics is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0003072 name: Hypercalcemia namespace: medical_genetics is_a: HP:0003253 ! Electrolyte disorders [Term] id: HP:0003073 name: Hypoalbuminemia namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003074 name: Hyperglycemia namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003075 name: Hypoproteinemia namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003076 name: Glycosuria namespace: medical_genetics alt_id: HP:0003122 def: "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators] synonym: "Glucosuria" EXACT [] is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003077 name: Hyperlipidemia namespace: medical_genetics is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0003078 name: Increased creatine kinase namespace: medical_genetics alt_id: HP:0002906 alt_id: HP:0003531 synonym: "Creatine kinase high" EXACT [] synonym: "Elevated serum creatine kinase" EXACT [] synonym: "High serum creatine kinase" EXACT [] synonym: "Increased creatine phosphokinase" EXACT [] synonym: "Increased creatine phosphokinase (CPK)" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003079 name: Defective DNA repair after ultraviolet radiation damage namespace: medical_genetics is_a: HP:0003254 ! Abnormality of DNA repair [Term] id: HP:0003080 name: Hydroxyprolinuria namespace: medical_genetics synonym: "Elevated urinary hydroxyproline" EXACT [] is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003081 name: Increased urinary potassium namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003082 name: Increased serum triglycerides namespace: medical_genetics synonym: "Increased plasma triglycerides" EXACT [] synonym: "Plasma triglycerides persistently increased" EXACT [] is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0003083 name: Dislocated radial head namespace: medical_genetics alt_id: HP:0002975 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 [] is_a: HP:0003042 ! Elbow dislocation is_a: HP:0003995 ! Abnormality of the radial head [Term] id: HP:0003084 name: Fractures of the long bones namespace: medical_genetics is_a: HP:0002660 ! Increased fractures [Term] id: HP:0003085 name: Disproportionately long fibulae namespace: medical_genetics synonym: "Disproportionately long fibula" EXACT [] is_a: HP:0002991 ! Abnormality of the fibula [Term] id: HP:0003086 name: Acromesomelia namespace: medical_genetics is_a: HP:0003027 ! Mesomelia [Term] id: HP:0003088 name: Premature osteoarthritis namespace: medical_genetics synonym: "Premature arthritis" EXACT [] is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0003089 name: Hamstring contractures namespace: medical_genetics is_a: HP:0001371 ! Contractures [Term] id: HP:0003090 name: Small capital femoral epiphyses namespace: medical_genetics synonym: "Small femoral capital epiphyses" EXACT [] is_a: HP:0006499 ! Abnormality of femoral epiphyses [Term] id: HP:0003091 name: Trophic limb changes namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0003092 name: Variable short metatarsals namespace: medical_genetics is_a: HP:0001779 ! Shortened metatarsals [Term] id: HP:0003093 name: Limited elbow and hip extension namespace: medical_genetics is_a: HP:0002814 ! Abnormality of the lower limbs [Term] id: HP:0003094 name: Broad great toes namespace: medical_genetics synonym: "Abnormally broad great toes" EXACT [] synonym: "Broad great toe" EXACT [] is_a: HP:0001837 ! Broad toes [Term] id: HP:0003095 name: Septic arthritis namespace: medical_genetics is_a: HP:0001369 ! Arthritis [Term] id: HP:0003096 name: Slender long bones namespace: medical_genetics is_a: HP:0003061 ! Gracile long bones [Term] id: HP:0003097 name: Short femurs namespace: medical_genetics is_a: HP:0005613 ! Aplasia/hypoplasia of the femur [Term] id: HP:0003098 name: Minor hand anomalies namespace: medical_genetics is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0003099 name: Fibular overgrowth namespace: medical_genetics is_a: HP:0002991 ! Abnormality of the fibula [Term] id: HP:0003100 name: Thin long bones namespace: medical_genetics is_a: HP:0003061 ! Gracile long bones [Term] id: HP:0003101 name: Mild to moderate joint limitation namespace: medical_genetics is_a: HP:0001376 ! Decreased mobility of joints [Term] id: HP:0003102 name: Increased carrying angle namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0003103 name: Abnormality of cortical bone namespace: medical_genetics def: "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [HPO:curators] is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0003105 name: Protuberances at ends of long bones namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0003106 name: Subperiosteal erosions due to secondary hyperparathyroidism namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0003107 name: Abnormality of cholesterol metabolism namespace: medical_genetics is_a: HP:0003119 ! Abnormality of lipid metabolism created_by: peter creation_date: 2008-03-17T01:02:00Z [Term] id: HP:0003108 name: Hyperglycinuria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003109 name: Hyperphosphaturia namespace: medical_genetics alt_id: HP:0003266 def: "An increased excretion of phosphates in the urine." [HPO:curators] synonym: "Phosphaturia" EXACT [] is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003110 name: Urinary laboratory abnormality namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003111 name: Serum electrolyte abnormality namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003112 name: Abnormal serum amino acid findings namespace: medical_genetics is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0003113 name: Hypochloremia namespace: medical_genetics is_a: HP:0003111 ! Serum electrolyte abnormality [Term] id: HP:0003114 name: Abnormal cardiological findings namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003115 name: Abnormal EKG namespace: medical_genetics is_a: HP:0003114 ! Abnormal cardiological findings [Term] id: HP:0003116 name: Abnormal echocardiogram namespace: medical_genetics is_a: HP:0003114 ! Abnormal cardiological findings [Term] id: HP:0003117 name: Abnormal endocrinological laboratory findings namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003118 name: Increased serum cortisol namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003119 name: Abnormality of lipid metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003120 name: Broad terminal phalanges namespace: medical_genetics alt_id: HP:0006113 def: "Abnormally wide terminal phalanges." [HPO:curators] synonym: "Broad distal phalanges" EXACT [] synonym: "Broad distal phalanx" EXACT [] is_a: HP:0005919 ! Abnormal terminal phalanges of the hand [Term] id: HP:0003121 name: Limb contractures namespace: medical_genetics is_a: HP:0001371 ! Contractures [Term] id: HP:0003123 name: Methylmalonic aciduria namespace: medical_genetics synonym: "Methymalonicaciduria" EXACT [] is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003124 name: Hypercholesterolemia namespace: medical_genetics synonym: "Elevated serum cholesterol" EXACT [] is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003125 name: Factor VIII deficiency namespace: medical_genetics is_a: HP:0003256 ! Abnormalities of the clotting factors [Term] id: HP:0003126 name: Low-molecular-weight proteinuria namespace: medical_genetics is_a: HP:0000093 ! Proteinuria [Term] id: HP:0003127 name: Hypocalciuria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003128 name: Lactic acidemia namespace: medical_genetics synonym: "Hyperlacticacidemia" EXACT [] synonym: "Lacticacidemia" EXACT [] is_a: HP:0001941 ! Acidosis [Term] id: HP:0003129 name: Abnormal neurological laboratory findings namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0003130 name: Abnormal myelination in sural nerve biopsies namespace: medical_genetics is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003131 name: Cystinuria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003132 name: Neurofibrillary tangles composed of disordered microtubules in neurons namespace: medical_genetics is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003133 name: Abnormal spinocerebellar tracts, dorsal columns, pyramidal tracts, cerebellum and medulla namespace: medical_genetics is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003134 name: Abnormal motor and sensory nerve conduction namespace: medical_genetics synonym: "Sensory and motor nerve conduction abnormalities" EXACT [] is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003135 name: Abnormal hematological laboratory findings namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003136 name: Decreased hemoglobin namespace: medical_genetics is_a: HP:0003135 ! Abnormal hematological laboratory findings [Term] id: HP:0003137 name: Prolinuria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003138 name: Increased blood urea nitrogen (BUN) namespace: medical_genetics synonym: "Increased blood urea nitrogen" EXACT [] is_a: HP:0002157 ! Azotemia [Term] id: HP:0003139 name: Panhypogammaglobulinemia namespace: medical_genetics synonym: "Panypogammaglobulinemia" EXACT [] is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003140 name: T-wave inversion in the right precordial leads and late potentials in signal-averaging ECG namespace: medical_genetics is_a: HP:0003115 ! Abnormal EKG [Term] id: HP:0003141 name: Increased beta-lipoproteins namespace: medical_genetics is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0003142 name: Excessive purine production namespace: medical_genetics is_a: HP:0004368 ! Increased purine levels [Term] id: HP:0003143 name: Liver transaminases normal to slightly increased namespace: medical_genetics is_a: HP:0002910 ! Elevated transaminases [Term] id: HP:0003144 name: Increased serum serotonin in 25% namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003145 name: Decreased adenosylcobalamin (ADOCBL) namespace: medical_genetics is_a: HP:0004341 ! Abnormality of vitamin B12 metabolism [Term] id: HP:0003146 name: Hypocholesterolemia namespace: medical_genetics is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003147 name: Reduced IgM levels namespace: medical_genetics is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003148 name: Elevated serum acid phosphatase namespace: medical_genetics comment: Acid phosphatase can free attached phosphate groups from other molecules. It is a lysosomal enzyme. synonym: "Acid phosphatase elevated" EXACT [] is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003149 name: Hyperuricosuria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003150 name: Glutaric aciduria namespace: medical_genetics synonym: "Glutaricaciduria" EXACT [] is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003151 name: Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination namespace: medical_genetics is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003152 name: Increased serum 1,25-dihydroxyvitamin D3 namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003153 name: Cystathioninuria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003154 name: Elevated plasma ACTH namespace: medical_genetics synonym: "Increased plasma acth" EXACT [] is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003155 name: Elevated alkaline phosphatase namespace: medical_genetics alt_id: HP:0002911 alt_id: HP:0003636 synonym: "High serum alkaline phosphatase" EXACT [] synonym: "Hyperphosphatasemia" EXACT [] synonym: "Increased alkaline phosphatase" EXACT [] synonym: "Increased serum alkaline phosphatase" EXACT [] is_a: HP:0004379 ! Abnormality of alkaline phosphatase metabolism [Term] id: HP:0003156 name: Increased liver function tests namespace: medical_genetics synonym: "Elevated liver function tests" EXACT [] is_a: HP:0001411 ! Abnormal liver function tests [Term] id: HP:0003157 name: Progressive axonal neuropathy with demyelinization on electroneurography namespace: medical_genetics is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003158 name: Hyposthenuria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003159 name: Hyperoxaluria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003160 name: Abnormal isoelectric focusing of serum transferrin namespace: medical_genetics synonym: "Abnormal isoelectric focusing of serum transferring" EXACT [] synonym: "Abnormal transferrin isoelectric focusing" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003161 name: 4-Hydroxyphenylpyruvic aciduria namespace: medical_genetics synonym: "Hydroxyphenylpyruvic aciduria" EXACT [] is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003162 name: Fasting hypoglycemia namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003163 name: Elevated urinary delta-aminolevulinic acid namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003164 name: Hypothalamic gonadotropin-releasing hormone (GNRH) deficiency namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003165 name: Elevated serum parathyroid hormone (PTH) level namespace: medical_genetics synonym: "Elevated serum parathyroid hormone" EXACT [] synonym: "Elevated serum parathyroid hormone level" EXACT [] synonym: "Elevated serum pth" EXACT [] synonym: "Increased serum parathyroid hormone" EXACT [] is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003166 name: Increased urinary sulfite, thiosulfate, s-sulfocysteine, taurine, hypoxanthine, and xanthine namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003167 name: Carnosinuria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003168 name: Dibasicaminoaciduria namespace: medical_genetics is_a: HP:0003110 ! Urinary laboratory abnormality [Term] id: HP:0003169 name: Small iliac wings namespace: medical_genetics is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0003170 name: Acetabular abnormality namespace: medical_genetics is_a: HP:0003272 ! Abnormality of the hips [Term] id: HP:0003171 name: Horizontal acetabular roof namespace: medical_genetics synonym: "Horizontal acetabulae" EXACT [] synonym: "Horizontal acetabular roofs" EXACT [] is_a: HP:0003170 ! Acetabular abnormality [Term] id: HP:0003172 name: Abnormality of the pubic bones namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0003173 name: Hypoplastic pubic bones namespace: medical_genetics synonym: "Hypoplastic pubic bone" EXACT [] synonym: "Hypoplastic pubis" EXACT [] is_a: HP:0009104 ! Aplasia/Hypoplasia of the pubic bone [Term] id: HP:0003174 name: Abnormality of the ischial bones namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0003175 name: Hypoplastic ischia namespace: medical_genetics synonym: "Hypoplastic ischial bones" EXACT [] synonym: "Hypoplastic ischii" EXACT [] synonym: "Hypoplastic ischium" EXACT [] is_a: HP:0003174 ! Abnormality of the ischial bones [Term] id: HP:0003177 name: Square iliac bones namespace: medical_genetics synonym: "Squaring of iliac bones" EXACT [] is_a: HP:0002867 ! Iliac abnormalities [Term] id: HP:0003178 name: Short and small iliac bones namespace: medical_genetics is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0003179 name: Protrusio acetabuli namespace: medical_genetics synonym: "Protrusio acetabulae" EXACT [] is_a: HP:0003170 ! Acetabular abnormality [Term] id: HP:0003180 name: Flat acetabular roofs namespace: medical_genetics synonym: "Flat acetabular roof" EXACT [] synonym: "Flattened acetabular roof" EXACT [] is_a: HP:0003170 ! Acetabular abnormality [Term] id: HP:0003181 name: Small, flared iliac wings namespace: medical_genetics synonym: "Short, flared iliac wings" EXACT [] is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0003182 name: Shallow acetabular fossae namespace: medical_genetics synonym: "Shallow acetabula" EXACT [] synonym: "Shallow acetabulae" EXACT [] synonym: "Shallow acetabular fossa" EXACT [] synonym: "Shallow acetabulum" EXACT [] is_a: HP:0003170 ! Acetabular abnormality [Term] id: HP:0003183 name: Wide pubic symphysis namespace: medical_genetics is_a: HP:0003172 ! Abnormality of the pubic bones [Term] id: HP:0003184 name: Decreased hip abduction namespace: medical_genetics synonym: "Limited hip abduction" EXACT [] is_a: HP:0003272 ! Abnormality of the hips [Term] id: HP:0003185 name: Small sacroiliac notches namespace: medical_genetics synonym: "Shortened sacroiliac notches" EXACT [] is_a: HP:0002867 ! Iliac abnormalities [Term] id: HP:0003186 name: Inverted nipples namespace: medical_genetics is_a: HP:0004404 ! Abnormality of the nipples [Term] id: HP:0003187 name: Breast hypoplasia namespace: medical_genetics is_a: HP:0000769 ! Abnormality of the breasts [Term] id: HP:0003189 name: Long nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0003190 name: Bifid nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0003191 name: Notched nasal alae namespace: medical_genetics is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0003192 name: Small, short nose namespace: medical_genetics is_a: HP:0000440 ! Hypoplastic nose [Term] id: HP:0003193 name: Allergic rhinitis namespace: medical_genetics is_a: HP:0002257 ! Chronic rhinitis [Term] id: HP:0003194 name: Short nasal bridge namespace: medical_genetics is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0003195 name: Small, upturned nose namespace: medical_genetics synonym: "Small upturned nose" EXACT [] is_a: HP:0000440 ! Hypoplastic nose [Term] id: HP:0003196 name: Nasal hypoplasia namespace: medical_genetics is_a: HP:0000440 ! Hypoplastic nose [Term] id: HP:0003198 name: Myopathy namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003199 name: Decreased muscle mass namespace: medical_genetics alt_id: HP:0003732 synonym: "Underdeveloped muscles" EXACT [] is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003200 name: Muscle biopsy shows ragged red fibers namespace: medical_genetics synonym: "Muscle biopsy - ragged-red fibers" EXACT [] synonym: "Muscle biopsy shows ragged-red fibers" EXACT [] synonym: "Ragged-red fibers on muscle biopsy" EXACT [] synonym: "Ragged-red muscle fibers" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003201 name: Rhabdomyolysis namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003202 name: Amyotrophy namespace: medical_genetics alt_id: HP:0001299 alt_id: HP:0003545 def: "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] synonym: "Muscle atrophy" EXACT [] synonym: "Muscle wasting" EXACT [] synonym: "Muscular atrophy" EXACT [] is_a: HP:0000707 ! Neurological abnormality is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003203 name: Negative nitroblue tetrazolium (NBT) reduction test namespace: medical_genetics 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:0001939 ! Metabolism abnormality [Term] id: HP:0003204 name: Intracellular accumulation of autofluorescent lipopigment storage material namespace: medical_genetics comment: This abnormality is seen in certain neurodegenrative disorders. is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003205 name: 'Curvilinear' profiles ultrastructurally namespace: medical_genetics 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 [] is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003206 name: Decreased activity of NADPH oxidase namespace: medical_genetics is_a: HP:0004358 ! Abnormality of superoxide metabolism [Term] id: HP:0003207 name: Arterial calcification namespace: medical_genetics is_a: HP:0002620 ! Arterial abnormalities created_by: peter creation_date: 2008-03-26T04:05:00Z [Term] id: HP:0003208 name: 'Fingerprint' profiles ultrastructurally namespace: medical_genetics 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: Low pyruvate carboxylase activity in liver and cultured fibroblasts namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003210 name: Decreased methylmalonyl-CoA mutase activity namespace: medical_genetics 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 is_a: HP:0003107 ! Abnormality of cholesterol metabolism is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0003211 name: Mildly increased serum creatine kinase namespace: medical_genetics synonym: "Mildly increased creatine kinase" EXACT [] synonym: "Moderately increased serum creatine kinase" EXACT [] is_a: HP:0003078 ! Increased creatine kinase [Term] id: HP:0003212 name: Increased IgE levels namespace: medical_genetics is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003213 name: Deficient excision of UV-induced pyrimidine dimers in DNA namespace: medical_genetics is_a: HP:0003254 ! Abnormality of DNA repair is_a: HP:0004353 ! Abnormality of pyrimidine metabolism [Term] id: HP:0003214 name: Prolonged G2 phase of cell cycle namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003215 name: Dicarboxylic aciduria namespace: medical_genetics 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. is_a: HP:0004354 ! Abnormality of carboxylic acid metabolism [Term] id: HP:0003216 name: Generalized amyloid deposition namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003217 name: High plasma glutamine namespace: medical_genetics is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0003218 name: Oroticaciduria namespace: medical_genetics is_a: HP:0001941 ! Acidosis [Term] id: HP:0003219 name: Ethylmalonic aciduria namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003220 name: Tendency to chromosomal breakage namespace: medical_genetics synonym: "Chromosome breakage" EXACT [] synonym: "Increased chromosomal breakage" EXACT [] synonym: "Increased chromosomal breakage rate" EXACT [] synonym: "Increased chromosome breakage" EXACT [] is_a: HP:0002916 ! Abnormality of the chromosomes [Term] id: HP:0003221 name: Chromosomal breakage induced by diepoxybutane (DEB), and mitomycin C namespace: medical_genetics is_a: HP:0003220 ! Tendency to chromosomal breakage [Term] id: HP:0003222 name: Low T4 namespace: medical_genetics is_a: HP:0002926 ! Abnormality of thyroid laboratory results [Term] id: HP:0003223 name: Decreased methylcobalamin (MECBL) namespace: medical_genetics synonym: "Decreased methylcobalamin" EXACT [] synonym: "Methylcobalamin deficiency" EXACT [] is_a: HP:0004341 ! Abnormality of vitamin B12 metabolism [Term] id: HP:0003224 name: Increased cellular sensitivity to UV light namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003225 name: Factor V deficiency namespace: medical_genetics is_a: HP:0003256 ! Abnormalities of the clotting factors [Term] id: HP:0003226 name: 'Rectilinear' profiles ultrastructurally namespace: medical_genetics synonym: "Rectilinear profiles ultrastructurally" EXACT [] is_a: HP:0003204 ! Intracellular accumulation of autofluorescent lipopigment storage material [Term] id: HP:0003227 name: Increased serum creatinine namespace: medical_genetics is_a: HP:0002147 ! Increased serum creatine kinase [Term] id: HP:0003228 name: Hypernatremia namespace: medical_genetics is_a: HP:0003253 ! Electrolyte disorders [Term] id: HP:0003229 name: Prolonged whole-blood clotting time in severe hemophilia namespace: medical_genetics is_a: HP:0003135 ! Abnormal hematological laboratory findings [Term] id: HP:0003231 name: Tyrosinemia namespace: medical_genetics comment: Defect in fumarylacetoacetase. is_a: HP:0004338 ! Abormality of phenylalanine and tyrosine metabolism [Term] id: HP:0003232 name: Mitochondrial malic enzyme reduced namespace: medical_genetics is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003233 name: Decreased HDL cholesterol namespace: medical_genetics synonym: "Low hdl-cholesterol" EXACT [] is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003234 name: Decreased plasma carnitine namespace: medical_genetics comment: Carnitine is responsible for the transport of fatty acids from the cytosol into the mitochondria. is_a: HP:0003287 ! Abnormality of mitochondrial metabolism is_a: HP:0004359 ! Abnormality of fatty-acid metabolism [Term] id: HP:0003235 name: Hypermethioninemia namespace: medical_genetics synonym: "Methioninemia" EXACT [] is_a: HP:0004339 ! Abnormality of sulfur-containing amino acids [Term] id: HP:0003236 name: Elevated serum creatine phosphokinase namespace: medical_genetics synonym: "Elevated blood creatine phosphokinase" EXACT [] synonym: "Elevated circulating creatine phosphokinase" EXACT [] synonym: "Elevated serum CPK" EXACT [] synonym: "Increased serum creatine phosphokinase" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003237 name: Increased levels of IgG namespace: medical_genetics is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003238 name: Hyperpepsinogenemia I namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003239 name: Phosphoethanolaminuria namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003240 name: Increased phosphoribosylpyrophosphate (PRPP) synthetase namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003241 name: Genital hypoplasia namespace: medical_genetics alt_id: HP:0000788 alt_id: HP:0003245 comment: Partial or complete failure of the genitalia to develop, often as a consequence of hypogonadism. synonym: "Hypogenitalism" EXACT [] synonym: "Small genitalia" EXACT [] is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0003242 name: Testicular and ovarian tissue present namespace: medical_genetics is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0003243 name: Pure gonadal dysgenesis namespace: medical_genetics is_a: HP:0000133 ! Gonadal dysgenesis [Term] id: HP:0003244 name: Penile hypospadias namespace: medical_genetics is_a: HP:0000047 ! Hypospadias [Term] id: HP:0003246 name: Prominent scrotal raphe namespace: medical_genetics is_a: HP:0000045 ! Morphological abnormality of the scrotum [Term] id: HP:0003247 name: Overgrowth of external genitalia namespace: medical_genetics is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0003248 name: Gonadal tissue inappropriate for external genitalia or chromosomal sex namespace: medical_genetics is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0003249 name: Genital ulcers namespace: medical_genetics is_a: HP:0000078 ! Abnormality of the genital tract [Term] id: HP:0003250 name: Absent vagina namespace: medical_genetics is_a: HP:0000142 ! Abnormalities of the vagina [Term] id: HP:0003251 name: Male infertility namespace: medical_genetics is_a: HP:0000789 ! Infertility [Term] id: HP:0003252 name: Anteriorly displaced genitalia namespace: medical_genetics is_a: HP:0000078 ! Abnormality of the genital tract [Term] id: HP:0003253 name: Electrolyte disorders namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003254 name: Abnormality of DNA repair namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003255 name: Lactic acidosis namespace: medical_genetics synonym: "Lacticacidosis" EXACT [] is_a: HP:0001941 ! Acidosis [Term] id: HP:0003256 name: Abnormalities of the clotting factors namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003258 name: Glyoxalase deficiency namespace: medical_genetics is_a: HP:0004366 ! Abnormality of glycolysis [Term] id: HP:0003259 name: Increased creatinine namespace: medical_genetics synonym: "Elevated creatinine" EXACT [] synonym: "Elevated serum creatinine" EXACT [] is_a: HP:0002157 ! Azotemia [Term] id: HP:0003260 name: Hydroxyprolinemia namespace: medical_genetics 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. is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0003261 name: Increased IgA levels namespace: medical_genetics synonym: "Increased levels of IgA" EXACT [] is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003262 name: Smooth muscle antibody positive namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003263 name: Low plasma renin activity namespace: medical_genetics synonym: "Decreased plasma renin activity" EXACT [] synonym: "Suppressed plasma renin activity" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003264 name: Deficiency of N-acetylglucosamine-1-phosphotransferase namespace: medical_genetics comment: N-acetylglucosamine-1-phosphotransferase catalyzes the initial step in the synthesis of the mannose 6-phosphate determinant required for efficient intracellular targeting of newly synthesized lysosomal hydrolases to the lysosome. is_a: HP:0004356 ! Abnormality of lysosomal metabolism [Term] id: HP:0003265 name: Neonatal hyperbilirubinemia namespace: medical_genetics synonym: "Hyperbilirubinemia, neonatal" EXACT [] is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0003267 name: Orotidine-5-prime-phosphate decarboxylase defect namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003268 name: Argininuria namespace: medical_genetics is_a: HP:0003355 ! Abnormal urinary amino-acid findings [Term] id: HP:0003269 name: Sudanophilic leukodystrophy namespace: medical_genetics is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003270 name: Abdominal distention namespace: medical_genetics alt_id: HP:0001542 alt_id: HP:0003364 def: "Enlargement of distension of the abdomen, which can be a secondary feature associated with a number of conditions such as bowel obstruction." [HPO:curators] synonym: "Abdominal distension" EXACT [] synonym: "Abdominal swelling" EXACT [] synonym: "Distended abdomen" EXACT [] is_a: HP:0001438 ! Abdomen abnormality [Term] id: HP:0003271 name: Visceromegaly namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0003272 name: Abnormality of the hips namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0003273 name: Hip contractures namespace: medical_genetics synonym: "Flexion contracture of hips" EXACT [] synonym: "Flexion contractures of hips" EXACT [] synonym: "Hip contracture" EXACT [] synonym: "Hip flexion contractures" EXACT [] is_a: HP:0003272 ! Abnormality of the hips [Term] id: HP:0003274 name: Hypoplastic acetabulae namespace: medical_genetics synonym: "Acetabular hypoplasia" EXACT [] synonym: "Hypoplastic acetabula" EXACT [] is_a: HP:0003170 ! Acetabular abnormality [Term] id: HP:0003275 name: Narrow pelvis namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0003276 name: Pelvic exostoses namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0003277 name: Constricted iliac wings namespace: medical_genetics is_a: HP:0002867 ! Iliac abnormalities [Term] id: HP:0003278 name: Small, squared off pelvis namespace: medical_genetics is_a: HP:0003373 ! Small pelvis [Term] id: HP:0003279 name: Coxa magna namespace: medical_genetics is_a: HP:0003272 ! Abnormality of the hips [Term] id: HP:0003280 name: Coxa plana namespace: medical_genetics is_a: HP:0003272 ! Abnormality of the hips [Term] id: HP:0003281 name: Increased serum ferritin namespace: medical_genetics synonym: "Elevated serum ferritin" EXACT [] synonym: "Increased ferritin" EXACT [] synonym: "Increased serum ferritin level" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003282 name: Low alkaline phosphatase namespace: medical_genetics synonym: "Decreased serum alkaline phosphatase" EXACT [] is_a: HP:0004379 ! Abnormality of alkaline phosphatase metabolism [Term] id: HP:0003283 name: Absent enteric ganglia along a variable length of intestine namespace: medical_genetics is_a: HP:0004362 ! Abnormality of the enteric ganglia [Term] id: HP:0003284 name: Occasional hypomagnesemia namespace: medical_genetics is_a: HP:0003253 ! Electrolyte disorders [Term] id: HP:0003286 name: Cystathioninemia namespace: medical_genetics is_a: HP:0004339 ! Abnormality of sulfur-containing amino acids [Term] id: HP:0003287 name: Abnormality of mitochondrial metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003288 name: Mitochondrial propionyl-CoA carboxylase (PCC) defect namespace: medical_genetics is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003291 name: Low to undetectable plasma cortisol namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003292 name: Decreased serum leptin namespace: medical_genetics is_a: HP:0004361 ! Abnormal regulation of fat tissue metabolism [Term] id: HP:0003293 name: Elevated liver enzymes namespace: medical_genetics synonym: "Increased liver enzymes" EXACT [] is_a: HP:0001411 ! Abnormal liver function tests [Term] id: HP:0003294 name: Markedly reduced IgG levels namespace: medical_genetics is_a: HP:0004315 ! Decreased IgG [Term] id: HP:0003295 name: Impaired FSH and LH secretion namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003296 name: Hyperthreoninuria namespace: medical_genetics is_a: HP:0003355 ! Abnormal urinary amino-acid findings [Term] id: HP:0003297 name: Hyperlysinuria namespace: medical_genetics is_a: HP:0003355 ! Abnormal urinary amino-acid findings [Term] id: HP:0003298 name: Spina bifida occulta namespace: medical_genetics is_a: HP:0002414 ! Spina bifida [Term] id: HP:0003300 name: Ovoid vertebral bodies namespace: medical_genetics synonym: "Oval vertebral bodies" EXACT [] synonym: "Ovoid vertebrae" EXACT [] synonym: "Ovoid-shaped vertebral bodies" EXACT [] is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0003301 name: Irregular vertebral endplates namespace: medical_genetics alt_id: HP:0003420 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 [] is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0003302 name: Spondylolisthesis namespace: medical_genetics synonym: "Spondylolithesis" EXACT [] is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003303 name: Mild scoliosis namespace: medical_genetics is_a: HP:0002650 ! Scoliosis [Term] id: HP:0003304 name: Spondylolysis namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003305 name: Block vertebrae namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0003306 name: Spinal rigidity namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003307 name: Hyperlordosis namespace: medical_genetics is_a: HP:0002939 ! Lordosis [Term] id: HP:0003308 name: Cervical subluxation namespace: medical_genetics is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0003309 name: Ovoid thoracolumbar vertebrae namespace: medical_genetics synonym: "Ovoid thoracic and lumbar vertebrae" EXACT [] is_a: HP:0003300 ! Ovoid vertebral bodies [Term] id: HP:0003310 name: Abnormality of the odontoid process namespace: medical_genetics synonym: "Abnormal odontoid process" EXACT [] is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003311 name: Hypoplastic odontoid process namespace: medical_genetics alt_id: HP:0003299 synonym: "Odontoid hypoplasia" EXACT [] is_a: HP:0003310 ! Abnormality of the odontoid process is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0003312 name: Abnormal form of the vertebral bodies namespace: medical_genetics synonym: "Abnormally-shaped vertebrae" EXACT [] synonym: "Pear-shaped vertebral bodies" EXACT [] synonym: "Round vertebral bodies" EXACT [] is_a: HP:0003468 ! Abnormalities of the vertebrae [Term] id: HP:0003313 name: Anterior beaking of vertebral bodies namespace: medical_genetics alt_id: HP:0004584 alt_id: HP:0005122 synonym: "anterior beaking" EXACT [] synonym: "anterior beaking of vertebrae" EXACT [] synonym: "anterior wedging" EXACT [] is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0003314 name: Hyperkyphosis namespace: medical_genetics is_a: HP:0003300 ! Ovoid vertebral bodies [Term] id: HP:0003316 name: Butterfly vertebrae namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0003317 name: Progressive scoliosis namespace: medical_genetics is_a: HP:0002650 ! Scoliosis [Term] id: HP:0003318 name: Cervical spine hypermobility namespace: medical_genetics is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0003319 name: Abnormality of the cervical spine namespace: medical_genetics synonym: "Abnormal cervical spine" EXACT [] synonym: "Cervical spine abnormalities" EXACT [] synonym: "Cervical vertebral abnormalities" EXACT [] is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003320 name: C1-C2 subluxation namespace: medical_genetics is_a: HP:0008440 ! C1-C2 vertebral abnormality [Term] id: HP:0003321 name: Biconcave flattened vertebrae namespace: medical_genetics is_a: HP:0000926 ! Platyspondyly is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0003322 name: EMG shows myopathic changes namespace: medical_genetics alt_id: HP:0003711 synonym: "EMG shows myopathy" EXACT [] is_a: HP:0003198 ! Myopathy [Term] id: HP:0003323 name: Muscle weakness, progressive namespace: medical_genetics alt_id: HP:0009032 synonym: "Progressive muscular weakness" EXACT [] is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003324 name: Generalized muscle weakness namespace: medical_genetics def: "Generalized weakness or decreased strength of the muscles." [HPO:curators] synonym: "Generalized weakness" EXACT [] synonym: "Muscle weakness, generalized" EXACT [] is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003325 name: Limb-girdle muscle weakness namespace: medical_genetics alt_id: HP:0008971 def: "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis." [HPO:curators] synonym: "Limb girdle weakness" EXACT [] synonym: "Muscle weakness, limb-girdle" EXACT [] synonym: "Muscular weakness, limb-girdle" EXACT [] is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003326 name: Myalgia namespace: medical_genetics alt_id: HP:0003718 synonym: "Muscle pain" EXACT [] is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003327 name: Axial muscle weakness namespace: medical_genetics def: "Reduced strength of the axial musculature (i.e., of the muscles of the head and neck, spine, and ribs)." [HPO:curators] is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003328 name: Abnormal hair laboratory examination namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003329 name: Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes namespace: medical_genetics is_a: HP:0003328 ! Abnormal hair laboratory examination [Term] id: HP:0003330 name: Abnormal bone laboratory examination namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003331 name: A thin seal of bone at the chondroosseous junction namespace: medical_genetics is_a: HP:0003330 ! Abnormal bone laboratory examination [Term] id: HP:0003332 name: Absent primary metaphyseal spongiosa namespace: medical_genetics is_a: HP:0003330 ! Abnormal bone laboratory examination [Term] id: HP:0003333 name: Increased serum beta-hexosaminidase (10-20x) namespace: medical_genetics 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 catecholamines (in patients with pheochromocytoma) namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003335 name: Low gonadotropins (secondary hypogonadism) namespace: medical_genetics synonym: "Gonadotropin insufficiency" EXACT [] is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003336 name: Arrest of endochondral ring structures with persistence of circumferential growth namespace: medical_genetics is_a: HP:0003330 ! Abnormal bone laboratory examination [Term] id: HP:0003337 name: Abnormal prothrombin consumption namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0003338 name: Focal necrosis of right ventricular muscle cells namespace: medical_genetics is_a: HP:0003114 ! Abnormal cardiological findings [Term] id: HP:0003339 name: Anemia corrected by uridylic acid and cytidylic acid namespace: medical_genetics is_a: HP:0003135 ! Abnormal hematological laboratory findings [Term] id: HP:0003340 name: Abnormal dermatological laboratory findings namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003341 name: Skin cleavage in the lamina lucida namespace: medical_genetics is_a: HP:0003340 ! Abnormal dermatological laboratory findings [Term] id: HP:0003342 name: Macromelanosomes on EM namespace: medical_genetics is_a: HP:0003340 ! Abnormal dermatological laboratory findings [Term] id: HP:0003343 name: Glutathione synthetase deficiency namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003344 name: 3-Methylglutaric aciduria namespace: medical_genetics synonym: "3-Methylglutaconicaciduria" EXACT [] synonym: "3-methylglutaricaciduria" EXACT [] is_a: HP:0003535 ! 3-Methylglutaconic aciduria [Term] id: HP:0003345 name: Elevated urinary norepinephrine namespace: medical_genetics is_a: HP:0003124 ! Hypercholesterolemia [Term] id: HP:0003346 name: Abnormal immunological laboratory finding namespace: medical_genetics alt_id: HP:0003257 synonym: "Immunological laboratory abnormality" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003347 name: Impaired lymphocyte transformation with phytohemagglutinin namespace: medical_genetics is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003348 name: Hyperalaninemia namespace: medical_genetics synonym: "Increased blood alanine" EXACT [] synonym: "Increased serum alanine" EXACT [] is_a: HP:0003112 ! Abnormal serum amino acid findings [Term] id: HP:0003349 name: Low cholesterol esterification rates namespace: medical_genetics is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003350 name: Abnormality of the renin-aldosterone axis namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003351 name: Decreased renin namespace: medical_genetics is_a: HP:0003350 ! Abnormality of the renin-aldosterone axis [Term] id: HP:0003352 name: Endopolyploidy on chromosome studies of bone marrow namespace: medical_genetics is_a: HP:0002916 ! Abnormality of the chromosomes [Term] id: HP:0003353 name: Propionyl-CoA carboxylase deficiency namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003354 name: Hyperthreoninemia namespace: medical_genetics is_a: HP:0003112 ! Abnormal serum amino acid findings [Term] id: HP:0003355 name: Abnormal urinary amino-acid findings namespace: medical_genetics is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0003356 name: Variable hypoglycemia namespace: medical_genetics is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0003357 name: Thymic hormone decreased namespace: medical_genetics is_a: HP:0002155 ! Hypertriglyceridemia [Term] id: HP:0003358 name: Elevated white blood cell cystine namespace: medical_genetics is_a: HP:0003135 ! Abnormal hematological laboratory findings [Term] id: HP:0003359 name: Decreased urinary sulfate and urate namespace: medical_genetics comment: Xanthine oxidase oxidizes oxypurines such as xanthine and hypoxanthine to uric acid. Uric acid is the final oxidation product of purine catabolism. is_a: HP:0004369 ! Decreased purine levels [Term] id: HP:0003360 name: Axonal loss with little evidence of demyelination or hypertrophic changes in nerve biopsies namespace: medical_genetics is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003361 name: Tryptophanuria namespace: medical_genetics is_a: HP:0003355 ! Abnormal urinary amino-acid findings [Term] id: HP:0003362 name: Increased plasma VLDL namespace: medical_genetics is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0003363 name: Abdominal situs inversus namespace: medical_genetics def: "A left-right reversal (or \"mirror reflection\") of the anatomical location of the abdominal organs." [HPO:curators] synonym: "Situs inversus viscerum" EXACT [] is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0003365 name: Arthralgia (hip) namespace: medical_genetics is_a: HP:0003272 ! Abnormality of the hips [Term] id: HP:0003366 name: Abnormality of the femoral neck and head region namespace: medical_genetics is_a: HP:0002823 ! Abnormality of the femora is_a: HP:0003272 ! Abnormality of the hips [Term] id: HP:0003367 name: Abnormality of the femoral neck namespace: medical_genetics def: "An abnormality of the femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:curators] is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0003368 name: Abnormality of the femoral head namespace: medical_genetics is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0003370 name: Flattened capital femoral epiphyses namespace: medical_genetics synonym: "Flat femoral capital epiphyses" EXACT [] is_a: HP:0003368 ! Abnormality of the femoral head [Term] id: HP:0003371 name: Enlarged capital femoral epiphyses namespace: medical_genetics is_a: HP:0003368 ! Abnormality of the femoral head [Term] id: HP:0003373 name: Small pelvis namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0003374 name: Small proximal femoral epiphyses namespace: medical_genetics is_a: HP:0003368 ! Abnormality of the femoral head [Term] id: HP:0003375 name: Narrow sacrosciatic notches namespace: medical_genetics synonym: "Narrow sacrosciatic notch" EXACT [] synonym: "Narrowed sacrosciatic notch" EXACT [] is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0003376 name: 'Steppage' gait namespace: medical_genetics synonym: "Steppage gait" EXACT [] is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0003377 name: Foot drop namespace: medical_genetics def: "Foot drop may be neurologic, muscular or anatomic in origin. It is recommended that a more specific term be chosen if possible." [HPO:curators] is_a: HP:0000707 ! Neurological abnormality is_a: HP:0001436 ! Abnormality of the foot musculature [Term] id: HP:0003378 name: Axonal degeneration/regeneration on nerve biopsy namespace: medical_genetics synonym: "Axonal degeneration/regeneration" EXACT [] synonym: "Nerve biopsy shows axonal degeneration/regeneration" EXACT [] is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0003380 name: Decreased number of myelinated fibers namespace: medical_genetics synonym: "Nerve biopsy shows decreased number of myelinated fibers" EXACT [] is_a: HP:0002520 ! Abnormal myelination [Term] id: HP:0003381 name: Demyelination namespace: medical_genetics is_a: HP:0002520 ! Abnormal myelination [Term] id: HP:0003382 name: Hypertrophic nerve changes namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003383 name: 'Onion bulb' formations on nerve biopsy namespace: medical_genetics synonym: "'onion bulb' formation on nerve biopsy" EXACT [] synonym: "'onion bulb' formations" EXACT [] synonym: "'onion bulb' formations may be present" EXACT [] synonym: "'onion bulbs' on nerve biopsy" EXACT [] synonym: "'onion' bulb formation" EXACT [] synonym: "Nerve biopsy shows 'onion bulb' formations" EXACT [] is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003384 name: Axonal atrophy on nerve biopsy namespace: medical_genetics is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0003385 name: Decreased number of myelinated fibers may be found namespace: medical_genetics is_a: HP:0003380 ! Decreased number of myelinated fibers [Term] id: HP:0003386 name: Loss of myelinated fibers on nerve biopsy namespace: medical_genetics synonym: "Loss of myelinated fibers" EXACT [] is_a: HP:0003380 ! Decreased number of myelinated fibers [Term] id: HP:0003387 name: Loss of large myelinated fibers namespace: medical_genetics synonym: "Decreased large myelinated fibers" EXACT [] synonym: "Depletion of large myelinated fibers" EXACT [] is_a: HP:0003380 ! Decreased number of myelinated fibers [Term] id: HP:0003388 name: Easy fatigability namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003389 name: Small 'onion bulbs' may be present namespace: medical_genetics is_a: HP:0003383 ! 'Onion bulb' formations on nerve biopsy [Term] id: HP:0003390 name: Sensory axonal neuropathy namespace: medical_genetics alt_id: HP:0007248 def: "An axonal neuropathy of peripheral sensory nerves." [HPO:curators] synonym: "Axonal sensory neuropathy" EXACT [] synonym: "Peripheral sensory axonal neuropathy" RELATED [] is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003391 name: Gower sign namespace: medical_genetics synonym: "Gowers sign" EXACT [] synonym: "Positive Gower sign" EXACT [] synonym: "Positive Gowers sign" EXACT [] is_a: HP:0003011 ! Abnormality of musculature is_a: HP:0003701 ! Muscle weakness, proximal [Term] id: HP:0003392 name: First dorsal interossei muscle weakness namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003393 name: Thenar muscle atrophy namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003394 name: Muscle cramps namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003396 name: Syringomyelia namespace: medical_genetics is_a: HP:0002143 ! Abnormality of the spinal cord and vertebral column [Term] id: HP:0003397 name: Generalized hypotonia due to defect at the neuromuscular junction namespace: medical_genetics is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003398 name: Abnormality of the neuromuscular junction namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003399 name: Proximal muscle weakness due to defect at the neuromuscular junction namespace: medical_genetics is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003400 name: Basal lamina 'onion bulb' formations on nerve biopsy namespace: medical_genetics is_a: HP:0003383 ! 'Onion bulb' formations on nerve biopsy [Term] id: HP:0003401 name: Paresthesia namespace: medical_genetics alt_id: HP:0002082 def: "Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause." [HPO:curators] synonym: "Paresthesias" EXACT [] is_a: HP:0000759 ! Abnormality of the peripheral nervous system is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003402 name: Decreased miniature endplate potentials (MEPP) namespace: medical_genetics synonym: "Decreased miniature endplate potentials" EXACT [] synonym: "Small miniature endplate currents" EXACT [] synonym: "Small miniature endplate potentials" EXACT [] is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003403 name: EMG shows decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation namespace: medical_genetics alt_id: HP:0003478 synonym: "EMG shows decremental compound muscle action potential (CMAP) response to repetitive nerve stimulation" EXACT [] is_a: HP:0003457 ! Abnormal EMG findings [Term] id: HP:0003404 name: Isolated absence of pain sensation namespace: medical_genetics is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003405 name: Diffuse axonal swelling namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003406 name: Peripheral nerve compression namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003407 name: Neuropathy namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003408 name: Thin myelin sheaths namespace: medical_genetics is_a: HP:0004335 ! Abnormal formation of myelin sheaths [Term] id: HP:0003409 name: Distal sensory impairment of all modalities namespace: medical_genetics synonym: "Distal sensory loss to all modalities" EXACT [] is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003411 name: Irregular proximal femoral metaphyses namespace: medical_genetics is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0003412 name: Kyphoscoliosis may occur namespace: medical_genetics synonym: "Kyphoscoliosis may be present" EXACT [] is_a: HP:0002751 ! Kyphoscoliosis [Term] id: HP:0003413 name: Atlantoaxial abnormality namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003414 name: Atlantoaxial dislocation namespace: medical_genetics synonym: "Atlanto-axial subluxation" EXACT [] synonym: "Atlantoaxial subluxation" EXACT [] is_a: HP:0003413 ! Atlantoaxial abnormality [Term] id: HP:0003416 name: Spinal canal stenosis namespace: medical_genetics synonym: "Narrow spinal canal" EXACT [] is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003417 name: Coronal cleft vertebrae namespace: medical_genetics alt_id: HP:0003673 synonym: "coronal cleft of vertebrae" EXACT [] synonym: "Coronal clefts" EXACT [] synonym: "Coronal vertebral clefts" EXACT [] synonym: "Vertebral coronal clefts" EXACT [] is_a: HP:0008428 ! Vertebral clefts [Term] id: HP:0003418 name: Back pain namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003419 name: Low back pain namespace: medical_genetics synonym: "Lower back pain" EXACT [] is_a: HP:0003418 ! Back pain [Term] id: HP:0003421 name: Platyspondyly (childhood) namespace: medical_genetics is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0003422 name: Vertebral segmentation defects namespace: medical_genetics synonym: "Abnormal spinal segmentation" EXACT [] is_a: HP:0003468 ! Abnormalities of the vertebrae [Term] id: HP:0003423 name: Thoracolumbar kyphoscoliosis namespace: medical_genetics synonym: "Dorsolumbar kyphosis" EXACT [] is_a: HP:0002751 ! Kyphoscoliosis [Term] id: HP:0003424 name: Progressive kyphoscoliosis namespace: medical_genetics is_a: HP:0002751 ! Kyphoscoliosis [Term] id: HP:0003425 name: Segmental demyelination/remyelination on nerve biopsy namespace: medical_genetics is_a: HP:0003481 ! Segmental demyelination/remyelination [Term] id: HP:0003426 name: First dorsal interossei muscle atrophy namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003427 name: Thenar muscle weakness namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003428 name: Generalized muscle weakness due to defect at the neuromuscular junction namespace: medical_genetics is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003429 name: Hypomyelination namespace: medical_genetics is_a: HP:0004335 ! Abnormal formation of myelin sheaths [Term] id: HP:0003430 name: EMG shows decremental compound motor action potential (CMAP) response to repetitive nerve stimulation namespace: medical_genetics is_a: HP:0003403 ! EMG shows decremental response of compound muscle action potential (CMAP) to repetitive nerve stimulation [Term] id: HP:0003431 name: Decreased motor nerve conduction velocity (NCV) namespace: medical_genetics alt_id: HP:0003395 synonym: "Decreased motor nerve conduction velocities (NCV)" EXACT [] synonym: "Reduced motor nerve conduction velocity" EXACT [] is_a: HP:0000762 ! Decreased nerve conduction velocities is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0003433 name: Myelin outfoldings may occur in a subset of patients namespace: medical_genetics is_a: HP:0004336 ! Myelin outfoldings [Term] id: HP:0003434 name: Sensory ataxic neuropathy namespace: medical_genetics is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003435 name: Cold-induced hand cramps namespace: medical_genetics is_a: HP:0003449 ! Cold-induced muscle cramps [Term] id: HP:0003436 name: Prolonged miniature endplate currents (MEPC) namespace: medical_genetics synonym: "Prolonged miniature endplate currents" EXACT [] is_a: HP:0003398 ! Abnormality of the neuromuscular junction [Term] id: HP:0003437 name: Normal or mildly decreased motor nerve conduction velocity (NCV) namespace: medical_genetics alt_id: HP:0003379 synonym: "Normal or mildly decreased motor nerve conduction velocity (NCV) (greater than 38 m/s)" EXACT [] is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0003438 name: Absent ankle reflexes namespace: medical_genetics is_a: HP:0002522 ! Areflexia in lower limbs [Term] id: HP:0003439 name: Thoracolumbar gibbus namespace: medical_genetics synonym: "Gibbus deformity" EXACT [] synonym: "Thoracolumbar gibbus deformity" EXACT [] is_a: HP:0002751 ! Kyphoscoliosis [Term] id: HP:0003440 name: Horizontal sacrum namespace: medical_genetics is_a: HP:0005107 ! Abnormality of the sacrum [Term] id: HP:0003442 name: Distal lower limb muscle atrophy due to peripheral neuropathy namespace: medical_genetics is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003443 name: Muscle biopsy shows decreased size of nerve terminals namespace: medical_genetics synonym: "Muscle biopsy shows small nerve terminals" EXACT [] is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003444 name: EMG shows chronic denervation namespace: medical_genetics is_a: HP:0003457 ! Abnormal EMG findings [Term] id: HP:0003445 name: EMG shows neuropathic changes namespace: medical_genetics is_a: HP:0003457 ! Abnormal EMG findings [Term] id: HP:0003446 name: Sural nerve biopsy shows chronic axonal neuropathy namespace: medical_genetics is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0003447 name: Axonal loss namespace: medical_genetics is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0003448 name: Decreased sensory nerve conduction velocities (NCV) namespace: medical_genetics synonym: "Decreased sensory nerve conduction velocities" EXACT [] synonym: "Decreased sensory nerve conduction velocity" EXACT [] is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003449 name: Cold-induced muscle cramps namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003450 name: Axonal regeneration on nerve biopsy namespace: medical_genetics synonym: "Regenerative activity on nerve biopsy" EXACT [] is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0003451 name: Premature chromosome condensation namespace: medical_genetics is_a: HP:0002916 ! Abnormality of the chromosomes [Term] id: HP:0003452 name: Increased serum iron namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003453 name: Neutrophil antibody positive namespace: medical_genetics synonym: "Antineutrophil antibodies" EXACT [] is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003454 name: Platelet antibody positive namespace: medical_genetics synonym: "Platelet antibody" EXACT [] is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003455 name: Elevated long chain fatty acids namespace: medical_genetics synonym: "Increased serum long-chain fatty acids" EXACT [] is_a: HP:0004359 ! Abnormality of fatty-acid metabolism [Term] id: HP:0003456 name: Low urinary cyclic AMP response to PTH administration namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003457 name: Abnormal EMG findings namespace: medical_genetics alt_id: HP:0002177 alt_id: HP:0003751 def: "Abnormal results of investigations using ectromyography (EMG)." [HPO:curators] comment: This term should not be used for new annotations. The diseases should be annotated to specific abnormalities rather than diagnostic modalities used to detect the abnormalities. In the future this term may be made obsolete. synonym: "Abnormal EMG" EXACT [] synonym: "EMG abnormalities" EXACT [] is_a: HP:0003011 ! Abnormality of musculature is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003458 name: Myopathic electromyogram namespace: medical_genetics is_a: HP:0003457 ! Abnormal EMG findings [Term] id: HP:0003459 name: Polyclonal elevation of IgM namespace: medical_genetics is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003460 name: Markedly reduced IgA levels namespace: medical_genetics is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003461 name: Increased urinary O-linked sialopeptides namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003462 name: Elevated 8-dehydrocholesterol namespace: medical_genetics is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003463 name: Lipopigment in extraneuronal cells namespace: medical_genetics is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0003464 name: Abnormal cholesterol homeostasis namespace: medical_genetics is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003465 name: Elevated 8(9)-cholestenol namespace: medical_genetics is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0003466 name: Paradoxical increased cortisol secretion on dexamethasone suppression test namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003467 name: Atlantoaxial instability namespace: medical_genetics is_a: HP:0003413 ! Atlantoaxial abnormality [Term] id: HP:0003468 name: Abnormalities of the vertebrae namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0003469 name: Dysmyelination namespace: medical_genetics comment: Defective formation of a myelin sheath. synonym: "Mri shows dysmyelination" EXACT [] is_a: HP:0004335 ! Abnormal formation of myelin sheaths [Term] id: HP:0003470 name: Paralysis namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0003471 name: Upper limb weakness and atrophy predominates namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003472 name: Hypocalcemic tetany namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003473 name: Mild-moderate fatigable weakness of limb muscles namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003474 name: Sensory impairment namespace: medical_genetics is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003475 name: Proximal muscle involvement may occur namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003476 name: Mild to moderate distal sensory impairment namespace: medical_genetics synonym: "Mild to moderate distal limb sensory loss" EXACT [] is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0003477 name: Axonal neuropathy namespace: medical_genetics is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0003479 name: Prolonged miniature endplate potentials (MEPP) namespace: medical_genetics synonym: "Prolonged miniature endplate potentials" EXACT [] is_a: HP:0003436 ! Prolonged miniature endplate currents (MEPC) [Term] id: HP:0003480 name: Cranial nerve involvement namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003481 name: Segmental demyelination/remyelination namespace: medical_genetics is_a: HP:0003381 ! Demyelination [Term] id: HP:0003482 name: EMG findings suggest axonal involvement namespace: medical_genetics is_a: HP:0003457 ! Abnormal EMG findings [Term] id: HP:0003483 name: Lower limbs more affected than upper limbs namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003484 name: Upper limb involvement may occur later namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003485 name: Distal lower limb muscle weakness due to peripheral neuropathy namespace: medical_genetics is_a: HP:0002935 ! Distal limb muscle weakness due to peripheral neuropathy [Term] id: HP:0003487 name: Babinski sign namespace: medical_genetics alt_id: HP:0001352 def: "Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract." [HPO:curators] comment: A positive Babinski sign can indicate damage to the corticospinal tract. synonym: "Extensor plantar reflexes" EXACT [] synonym: "Extensor plantar response" EXACT [] synonym: "Extensor plantar responses" EXACT [] is_a: HP:0002492 ! Abnormality of the corticospinal tracts [Term] id: HP:0003488 name: Pyramidal signs (less common) namespace: medical_genetics is_a: HP:0002062 ! Abnormality of the pyramidal tracts [Term] id: HP:0003489 name: Acute episodes of neuropathic symptoms namespace: medical_genetics comment: Neuropathic symptoms include numbness, dysesthesias, and a characteristic form of pain (neuralgia). is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0003490 name: Defective dehydrogenation of isovaleryl CoA and butyryl CoA namespace: medical_genetics comment: Isovaleryl CoA is an intermediate product in the catabolism of leucine. Butyryl CoA is an intermediate in fatty acid degradation and in biosynthesis. is_a: HP:0004357 ! Abnormality of leucine metabolism is_a: HP:0004359 ! Abnormality of fatty-acid metabolism [Term] id: HP:0003491 name: Elevated plasma and urine inorganic pyrophosphate (PPI) namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003492 name: High urinary gonadotropins (primary hypogonadism) namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003493 name: Antinuclear antibody positive namespace: medical_genetics synonym: "Antinuclear antibodies" EXACT [] synonym: "Elevated antinuclear antibody" EXACT [] synonym: "Serum antinuclear antibody" EXACT [] is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003494 name: Loss of heterozygosity, multiple chromosomes namespace: medical_genetics is_a: HP:0002916 ! Abnormality of the chromosomes [Term] id: HP:0003495 name: GM2-ganglioside accumulation namespace: medical_genetics is_a: HP:0004345 ! Abnormality of ganglioside metabolism [Term] id: HP:0003496 name: Increased levels of IgM namespace: medical_genetics synonym: "Increased igm levels" EXACT [] is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003497 name: Distal limb muscle weakness namespace: medical_genetics is_a: HP:0000759 ! Abnormality of the peripheral nervous system [Term] id: HP:0003498 name: Short stature, disproportionate namespace: medical_genetics synonym: "Disproportionate short stature" EXACT [] is_a: HP:0001509 ! Short stature [Term] id: HP:0003499 name: Short stature, proportionate namespace: medical_genetics is_a: HP:0001509 ! Short stature [Term] id: HP:0003500 name: Short-trunked dwarfism namespace: medical_genetics is_a: HP:0001509 ! Short stature [Term] id: HP:0003501 name: Postnatal short stature namespace: medical_genetics synonym: "Pstnatal short stature" EXACT [] synonym: "Short stature (postnatal onset)" EXACT [] synonym: "Short stature, postnatal" EXACT [] synonym: "Short stature, postnatal onset" EXACT [] is_a: HP:0001509 ! Short stature [Term] id: HP:0003502 name: Mild short stature namespace: medical_genetics def: "A mild degree of short stature." [HPO:curators] is_a: HP:0001509 ! Short stature [Term] id: HP:0003503 name: Mild to moderate short stature namespace: medical_genetics synonym: "Mild-moderate short stature" EXACT [] synonym: "Variable moderate short stature" EXACT [] is_a: HP:0001509 ! Short stature [Term] id: HP:0003504 name: Proportionate dwarfism namespace: medical_genetics is_a: HP:0001509 ! Short stature [Term] id: HP:0003505 name: Short limb dwarfism namespace: medical_genetics synonym: "Dwarfism, short-limbed" EXACT [] synonym: "Short-limb dwarfism" EXACT [] is_a: HP:0001509 ! Short stature [Term] id: HP:0003506 name: Lethal micromelic dwarfism namespace: medical_genetics is_a: HP:0001509 ! Short stature [Term] id: HP:0003508 name: Proportionate short stature namespace: medical_genetics synonym: "Proportionate small stature" EXACT [] is_a: HP:0001509 ! Short stature [Term] id: HP:0003509 name: Marked micromelic dwarfism namespace: medical_genetics synonym: "Severe micromelic dwarfism" EXACT [] is_a: HP:0001509 ! Short stature [Term] id: HP:0003510 name: Short stature, severe namespace: medical_genetics def: "A severe degree of short stature." [HPO:curators] is_a: HP:0001509 ! Short stature [Term] id: HP:0003512 name: Adult female height 130-157 cm namespace: medical_genetics is_a: HP:0001509 ! Short stature [Term] id: HP:0003513 name: Ratio of renal calcium clearance to creatinine clearance usually below 0.01 namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003514 name: Deficiency or absence of cytochrome b(-245) namespace: medical_genetics synonym: "Deficiency or absence of cytochrome b" EXACT [] is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003515 name: Increased linear growth namespace: medical_genetics synonym: "Accelerated linear growth" EXACT [] is_a: HP:0000098 ! Increased body height [Term] id: HP:0003516 name: Normal to tall stature namespace: medical_genetics is_a: HP:0001527 ! Tall stature [Term] id: HP:0003517 name: Birth length greater than 97th percentile namespace: medical_genetics is_a: HP:0001527 ! Tall stature [Term] id: HP:0003518 name: Adult male height 142-169 cm namespace: medical_genetics is_a: HP:0001509 ! Short stature [Term] id: HP:0003519 name: Short stature in less than 50% namespace: medical_genetics is_a: HP:0001509 ! Short stature [Term] id: HP:0003520 name: Rhizomelic dwarfism namespace: medical_genetics is_a: HP:0003519 ! Short stature in less than 50% [Term] id: HP:0003521 name: Short stature, disproportionate (short trunk) namespace: medical_genetics synonym: "Disproportionate short-trunked short stature" EXACT [] is_a: HP:0003498 ! Short stature, disproportionate [Term] id: HP:0003522 name: Disproportionate short stature (short trunk), identifiable in childhood namespace: medical_genetics is_a: HP:0003521 ! Short stature, disproportionate (short trunk) [Term] id: HP:0003523 name: Short-limb dwarfism identifiable during childhood namespace: medical_genetics is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0003524 name: Decreased methionine synthase (MTR, 156570) activity namespace: medical_genetics comment: Cobalamin-dependent methionine synthase catalyzes the transfer of a methyl group from N5-methyltetrahydrofolate to homocysteine, producing tetrahydrofolate and methionine. synonym: "Decreased activity of methionine synthase" EXACT [] synonym: "Decreased methionine synthase activity" EXACT [] synonym: "Methionine synthase deficiency" EXACT [] synonym: "Methionine synthetase activity decreased" EXACT [] is_a: HP:0004339 ! Abnormality of sulfur-containing amino acids [Term] id: HP:0003525 name: Elevated blood CPK, phosphate and potassium namespace: medical_genetics is_a: HP:0003078 ! Increased creatine kinase [Term] id: HP:0003526 name: Orotic acid crystalluria namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003527 name: Hyperprostaglandinuria namespace: medical_genetics is_a: HP:0003117 ! Abnormal endocrinological laboratory findings [Term] id: HP:0003528 name: Elevated calcitonin namespace: medical_genetics comment: Calcitonin is a 32-amino acid polypeptide hormone that is produced primarily by the parafollicular cells of the thyroid. It acts to reduce blood calcium (Ca2+), opposing the effects of parathyroid hormone. is_a: HP:0004363 ! Abnormality of calcium metabolism [Term] id: HP:0003529 name: Parathormone-independent renal tubular calcium reabsorption defect namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003530 name: Glutaric acidemia namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003532 name: Ornithinuria namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003533 name: Delayed oxidation of acetaldehyde namespace: medical_genetics comment: In the liver, alcohol dehydrogenase converts ethanol into acetaldehyde, which is then converted into acetic acid by acetaldehyde dehydrogenase. is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003534 name: Xanthine dehydrogenase deficiency namespace: medical_genetics comment: This enzyme is on the purine degradation pathway. is_a: HP:0004352 ! Abnormality of purine metabolism [Term] id: HP:0003535 name: 3-Methylglutaconic aciduria namespace: medical_genetics comment: 3-methylglutaconic aciduria describes five different disorders that impair mitochondrial function and resulting in buildup of 3-methylglutaconic acid and 3-methylglutaric acid and consequent increased excretion in the urine. is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003536 name: Decreased fumarate hydratase activity namespace: medical_genetics comment: Fumarate hydratase belongs to the tricarboxylic acid (Krebs) cycle. It catalyzes the conversion of fumarate to malate. is_a: HP:0000816 ! Abnormality of Krebs cycle metabolism [Term] id: HP:0003537 name: Hypouricemia namespace: medical_genetics is_a: HP:0004369 ! Decreased purine levels [Term] id: HP:0003538 name: Increased serum iduronate sulfatase (10-20x) namespace: medical_genetics 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. is_a: HP:0004355 ! Abnormality of proteoglycan metabolism [Term] id: HP:0003539 name: Direct Coombs positive namespace: medical_genetics is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003540 name: Abnormal platelet aggregation namespace: medical_genetics synonym: "Abnormal platelet function" EXACT [] synonym: "Defective platelet aggregation" EXACT [] synonym: "Deficient platelet aggregation" EXACT [] synonym: "Platelet aggregation defect" EXACT [] is_a: HP:0003135 ! Abnormal hematological laboratory findings [Term] id: HP:0003541 name: Dermatan and heparan sulfate excretion in urine namespace: medical_genetics is_a: HP:0004355 ! Abnormality of proteoglycan metabolism [Term] id: HP:0003542 name: Increased serum pyruvate namespace: medical_genetics is_a: HP:0004366 ! Abnormality of glycolysis [Term] id: HP:0003543 name: Ketonemia namespace: medical_genetics is_a: HP:0001946 ! Ketosis [Term] id: HP:0003544 name: Muscle biopsy shows dystrophic changes namespace: medical_genetics is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0003546 name: Exercise intolerance namespace: medical_genetics is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003547 name: Shoulder girdle muscle weakness namespace: medical_genetics alt_id: HP:0003695 def: "The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders." [HPO:curators] synonym: "Muscle weakness, shoulder-girdle" EXACT [] synonym: "Shoulder girdle and back weakness" EXACT [] synonym: "Shoulder girdle weakness" EXACT [] synonym: "Shoulder weakness" EXACT [] is_a: HP:0001435 ! Abnormality of the shoulder musculature is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003548 name: Electron microscopy shows subsarcolemmal accumulations of abnormally shaped mitochondria namespace: medical_genetics is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003549 name: Abnormality of the soft tissues namespace: medical_genetics is_a: HP:0000118 ! Organ abnormality [Term] id: HP:0003550 name: Lymphedema, predominantly in the lower limbs namespace: medical_genetics is_a: HP:0001004 ! Lymphedema [Term] id: HP:0003551 name: Difficulty climbing stairs namespace: medical_genetics synonym: "Difficulty in walking, especially up stairs" EXACT [] synonym: "Difficulty walking up stairs" EXACT [] is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003552 name: Muscle stiffness namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003553 name: Cellulitis due to immunodeficiency namespace: medical_genetics is_a: HP:0003549 ! Abnormality of the soft tissues [Term] id: HP:0003554 name: Muscle biopsy shows type 2 fiber atrophy namespace: medical_genetics synonym: "Type 2 fiber atrophy" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003555 name: Fiber splitting namespace: medical_genetics synonym: "Muscle fiber splitting" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003556 name: Muscle biopsy shows increased variation in fiber size namespace: medical_genetics synonym: "Increased fiber size variation" EXACT [] synonym: "Increased variation in fiber size" EXACT [] synonym: "Increased variation in muscle fiber size" EXACT [] synonym: "Muscle biopsy shows increased fiber size variation" EXACT [] is_a: HP:0003557 ! Variation in muscle fiber size [Term] id: HP:0003557 name: Variation in muscle fiber size namespace: medical_genetics def: "An abnormally high degree of muscle fiber size variation." [HPO:curators] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003558 name: Rhabdomyolysis may follow severe exercise in hot conditions, neuroleptic drugs, alcohol, or infections namespace: medical_genetics is_a: HP:0003201 ! Rhabdomyolysis [Term] id: HP:0003559 name: Muscle hyperirritability namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003560 name: Muscular dystrophy namespace: medical_genetics def: "The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness, defects in muscle proteins, and the apoptosis of muscle cells." [HPO:curators] is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003561 name: Birth length <3rd percentile namespace: medical_genetics synonym: "Birth length < 3rd percentile" EXACT [] synonym: "Birth length less than 3rd percentile" EXACT [] is_a: HP:0001509 ! Short stature [Term] id: HP:0003562 name: Abnormal metaphyseal vascular invasion namespace: medical_genetics is_a: HP:0003330 ! Abnormal bone laboratory examination [Term] id: HP:0003563 name: Hypobetalipoproteinemia namespace: medical_genetics is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0003564 name: Folate-dependent fragile site at Xq28 namespace: medical_genetics is_a: HP:0002916 ! Abnormality of the chromosomes [Term] id: HP:0003565 name: Elevated erythrocyte sedimentation rate namespace: medical_genetics synonym: "Elevated sedimentation rate" EXACT [] synonym: "High erythrocyte sedimentation rate" EXACT [] synonym: "Increased erythrocyte sedimentation rate" EXACT [] synonym: "Raised erythrocyte sedimentation rate" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003566 name: Increased serum prostaglandin E namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003567 name: Mucopolysacchariduria namespace: medical_genetics is_a: HP:0004371 ! Abnormality of glycosaminoglycan metabolism [Term] id: HP:0003568 name: Glucosephosphate isomerase deficiency namespace: medical_genetics alt_id: HP:0003290 def: "Deficiency of glucose-6-phosphate isomerase (EC 5.3.1.9)." [HPO:curators] synonym: "Phosphohexose isomerase deficiency" EXACT [] is_a: HP:0001939 ! Metabolism abnormality is_a: HP:0004366 ! Abnormality of glycolysis [Term] id: HP:0003569 name: Myopathic changes on muscle biopsy namespace: medical_genetics synonym: "Myopathic changes on biopsy" EXACT [] synonym: "Myopathic pattern muscle biopsy" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003570 name: Molybdenum cofactor deficiency namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003571 name: Propionicacidemia namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003572 name: Low plasma citrulline namespace: medical_genetics is_a: HP:0004364 ! Abnormality of ammonia metabolism [Term] id: HP:0003573 name: Increased total bilirubin namespace: medical_genetics synonym: "Increased bilirubin" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003574 name: Positive regitine test namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003575 name: Increased intracellular sodium namespace: medical_genetics is_a: HP:0003253 ! Electrolyte disorders [Term] id: HP:0003576 name: Onset in infancy namespace: medical_genetics synonym: "Infantile onset" EXACT [] is_a: HP:0003674 ! Age of onset [Term] id: HP:0003577 name: Onset at birth namespace: medical_genetics is_a: HP:0003674 ! Age of onset [Term] id: HP:0003578 name: Onset in childhood namespace: medical_genetics synonym: "Childhood onset" EXACT [] is_a: HP:0003674 ! Age of onset [Term] id: HP:0003579 name: Onset in infancy or early childhood namespace: medical_genetics is_a: HP:0003583 ! Onset in infancy or childhood [Term] id: HP:0003580 name: Onset in early childhood namespace: medical_genetics synonym: "Onset early childhood" EXACT [] is_a: HP:0003578 ! Onset in childhood [Term] id: HP:0003581 name: Onset in adulthood namespace: medical_genetics synonym: "Adult onset" EXACT [] is_a: HP:0003674 ! Age of onset [Term] id: HP:0003582 name: Onset in first decade namespace: medical_genetics synonym: "Onset in first decade of life" EXACT [] is_a: HP:0003578 ! Onset in childhood [Term] id: HP:0003583 name: Onset in infancy or childhood namespace: medical_genetics is_a: HP:0003576 ! Onset in infancy is_a: HP:0003578 ! Onset in childhood [Term] id: HP:0003584 name: Late onset namespace: medical_genetics is_a: HP:0003674 ! Age of onset [Term] id: HP:0003585 name: Onset in third decade namespace: medical_genetics is_a: HP:0003674 ! Age of onset [Term] id: HP:0003586 name: Onset by 3 years of age namespace: medical_genetics is_a: HP:0003578 ! Onset in childhood [Term] id: HP:0003587 name: Insidious onset namespace: medical_genetics is_a: HP:0003674 ! Age of onset [Term] id: HP:0003588 name: Onset in second decade namespace: medical_genetics is_a: HP:0003674 ! Age of onset [Term] id: HP:0003589 name: Onset in first or second decade namespace: medical_genetics is_a: HP:0003582 ! Onset in first decade is_a: HP:0003674 ! Age of onset [Term] id: HP:0003590 name: Onset in adolescence namespace: medical_genetics alt_id: HP:0003626 synonym: "Adolescent onset" EXACT [] is_a: HP:0003674 ! Age of onset [Term] id: HP:0003591 name: Onset in early infancy namespace: medical_genetics is_a: HP:0003576 ! Onset in infancy [Term] id: HP:0003592 name: Onset in childhood (6-7 years) namespace: medical_genetics is_a: HP:0003578 ! Onset in childhood [Term] id: HP:0003593 name: Early onset namespace: medical_genetics synonym: "Early age of onset" EXACT [] is_a: HP:0003674 ! Age of onset [Term] id: HP:0003594 name: Onset in first months of life namespace: medical_genetics is_a: HP:0003591 ! Onset in early infancy [Term] id: HP:0003595 name: Onset at birth or early childhood namespace: medical_genetics is_a: HP:0003577 ! Onset at birth is_a: HP:0003591 ! Onset in early infancy [Term] id: HP:0003596 name: Middle age onset namespace: medical_genetics is_a: HP:0003674 ! Age of onset [Term] id: HP:0003597 name: Onset about puberty namespace: medical_genetics is_a: HP:0003590 ! Onset in adolescence [Term] id: HP:0003598 name: Onset before age 40 years namespace: medical_genetics is_a: HP:0003674 ! Age of onset [Term] id: HP:0003599 name: Onset in first year of life namespace: medical_genetics is_a: HP:0003576 ! Onset in infancy [Term] id: HP:0003600 name: Onset within first 6 months of life namespace: medical_genetics is_a: HP:0003599 ! Onset in first year of life [Term] id: HP:0003601 name: Onset in utero or at birth namespace: medical_genetics is_a: HP:0003577 ! Onset at birth [Term] id: HP:0003602 name: Onset in second and third decades namespace: medical_genetics synonym: "Onset in 2nd and 3rd decade" EXACT [] is_a: HP:0003674 ! Age of onset [Term] id: HP:0003603 name: Teenage onset namespace: medical_genetics is_a: HP:0003590 ! Onset in adolescence [Term] id: HP:0003604 name: Onset in childhood or early adolescence namespace: medical_genetics is_a: HP:0003578 ! Onset in childhood [Term] id: HP:0003605 name: Onset of lymphedema around puberty namespace: medical_genetics is_a: HP:0001004 ! Lymphedema [Term] id: HP:0003606 name: Absent urinary urothione namespace: medical_genetics comment: Urothione, a sulfur-containing pterin, is the normal metabolic degradation product of the molybdenum cofactor. is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003607 name: 4-Hydroxyphenylacetic aciduria namespace: medical_genetics 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. is_a: HP:0003637 ! 4-Hydroxyphenylpyruvic acid dioxygenase deficiency (HPD) [Term] id: HP:0003608 name: Increased urinary sodium namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003609 name: Electron microscopy of foam cells shows lamellar inclusions namespace: medical_genetics is_a: HP:0003651 ! Presence of foam cells [Term] id: HP:0003610 name: Fibroblast metachromasia namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003611 name: Hyperlipoproteinemia II namespace: medical_genetics synonym: "Hyperlipoproteinemia v" EXACT [] is_a: HP:0003119 ! Abnormality of lipid metabolism [Term] id: HP:0003612 name: Positive ferric chloride test namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003613 name: Phospholipid antibody positive namespace: medical_genetics synonym: "Antiphospholipid antibodies" EXACT [] synonym: "Antiphospholipid antibody" EXACT [] is_a: HP:0003346 ! Abnormal immunological laboratory finding [Term] id: HP:0003614 name: Trimethylaminuria namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003615 name: Increased serum renin namespace: medical_genetics is_a: HP:0003350 ! Abnormality of the renin-aldosterone axis [Term] id: HP:0003616 name: Premature separation of centromeric heterochromatin namespace: medical_genetics is_a: HP:0002916 ! Abnormality of the chromosomes [Term] id: HP:0003617 name: Onset 3 months of age up to 5 years namespace: medical_genetics is_a: HP:0003578 ! Onset in childhood [Term] id: HP:0003618 name: Variable age at onset namespace: medical_genetics synonym: "Variable onset age" EXACT [] is_a: HP:0003674 ! Age of onset [Term] id: HP:0003619 name: Onset usually in first decade namespace: medical_genetics is_a: HP:0003582 ! Onset in first decade [Term] id: HP:0003620 name: Onset usually in childhood or adolescence namespace: medical_genetics is_a: HP:0003604 ! Onset in childhood or early adolescence [Term] id: HP:0003621 name: Juvenile onset namespace: medical_genetics is_a: HP:0003674 ! Age of onset [Term] id: HP:0003622 name: Onset in first weeks of life namespace: medical_genetics is_a: HP:0003591 ! Onset in early infancy [Term] id: HP:0003623 name: Onset in neonatal period namespace: medical_genetics synonym: "Neonatal onset" EXACT [] is_a: HP:0003674 ! Age of onset [Term] id: HP:0003624 name: Onset usually at birth namespace: medical_genetics is_a: HP:0003577 ! Onset at birth [Term] id: HP:0003625 name: Onset between 1-3 years namespace: medical_genetics is_a: HP:0003578 ! Onset in childhood [Term] id: HP:0003627 name: Onset in early adulthood namespace: medical_genetics is_a: HP:0003581 ! Onset in adulthood [Term] id: HP:0003628 name: Mean age of onset 18 years namespace: medical_genetics is_a: HP:0003674 ! Age of onset [Term] id: HP:0003629 name: Onset usually in infancy or early childhood namespace: medical_genetics is_a: HP:0003583 ! Onset in infancy or childhood [Term] id: HP:0003630 name: Variable age at onset (childhood to adult) namespace: medical_genetics is_a: HP:0003618 ! Variable age at onset [Term] id: HP:0003631 name: Prelingual onset namespace: medical_genetics is_a: HP:0003576 ! Onset in infancy [Term] id: HP:0003632 name: Myotonia is most pronounced in the extremities namespace: medical_genetics is_a: HP:0002486 ! Myotonia [Term] id: HP:0003634 name: Generalized amyoplasia namespace: medical_genetics alt_id: HP:0008990 def: "Generalized congenital lack of development of the muscles, which are then replaced by a mixture of dense fat and fibrous tissue." [HPO:curators] synonym: "Congenital absence of muscles" EXACT [] is_a: HP:0001460 ! Aplasia/Hypoplasia involving the musculature [Term] id: HP:0003635 name: Loss of subcutaneous adipose tissue in limbs namespace: medical_genetics alt_id: HP:0003757 synonym: "Loss of subcutaneous adipose tissue from extremities" EXACT [] is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0003637 name: 4-Hydroxyphenylpyruvic acid dioxygenase deficiency (HPD) namespace: medical_genetics 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. is_a: HP:0004338 ! Abormality of phenylalanine and tyrosine metabolism [Term] id: HP:0003638 name: Mildly increased serum lactate namespace: medical_genetics is_a: HP:0002151 ! Increased serum lactate [Term] id: HP:0003639 name: Increased urinary epinephrine namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003640 name: Foam cells in visceral organs and CNS namespace: medical_genetics is_a: HP:0003651 ! Presence of foam cells [Term] id: HP:0003641 name: Hemoglobinuria namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003642 name: Abnormal isoelectric focusing of serum transferrin (type 1 pattern) namespace: medical_genetics synonym: "Abnormal isoelectric focusing of serum transferrin, type i pattern" EXACT [] synonym: "Isoelectric focusing of serum transferrin consistent with cdg type i" EXACT [] is_a: HP:0003160 ! Abnormal isoelectric focusing of serum transferrin [Term] id: HP:0003643 name: Sulfite oxidase deficiency namespace: medical_genetics 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. is_a: HP:0004339 ! Abnormality of sulfur-containing amino acids [Term] id: HP:0003644 name: Decreased beta-galactosidase activity (leukocyte, fibroblast, plasma) namespace: medical_genetics synonym: "Beta-galactosidase-1 deficiency" EXACT [] is_a: HP:0008166 ! Decreased beta-galactosidase activity [Term] id: HP:0003645 name: Prolonged partial thromboplastin time namespace: medical_genetics synonym: "Abnormal partial thromboplastin time" EXACT [] synonym: "Delayed thromboplastin generation" EXACT [] synonym: "Partial thromboplastin time prolonged" EXACT [] synonym: "Prolonged activated partial thromboplastin time" EXACT [] synonym: "Prolonged prothrombin time" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003646 name: Bicarbonaturia namespace: medical_genetics is_a: HP:0004360 ! Abnormality of acid-base metabolism [Term] id: HP:0003647 name: Electron transfer flavoprotein-ubiquinone oxidoreductase defect namespace: medical_genetics is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0003648 name: Lacticaciduria namespace: medical_genetics is_a: HP:0003255 ! Lactic acidosis [Term] id: HP:0003649 name: Abnormality of glycoside metabolism namespace: medical_genetics comment: Glycosides are molecules with a suger moiety bound to some other moiety. is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-08T08:32:00Z [Term] id: HP:0003650 name: Foam cells contain polymorphic cytoplasmic inclusions consisting of lamellar osmiophilic membranes on electron microscopy namespace: medical_genetics is_a: HP:0003651 ! Presence of foam cells [Term] id: HP:0003651 name: Presence of foam cells namespace: medical_genetics is_a: HP:0003135 ! Abnormal hematological laboratory findings [Term] id: HP:0003652 name: Recurrent myoglobinuria namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003653 name: Metachromasia of white blood cells and fibroblasts namespace: medical_genetics is_a: HP:0003135 ! Abnormal hematological laboratory findings [Term] id: HP:0003654 name: Dihydropyrimidine dehydrogenase deficiency namespace: medical_genetics is_a: HP:0004353 ! Abnormality of pyrimidine metabolism [Term] id: HP:0003655 name: Deficient N-acetylglucosaminyltransferase II namespace: medical_genetics is_a: HP:0004367 ! Abnormality of glycoprotein metabolism [Term] id: HP:0003656 name: Decreased beta-glucocerebrosidase protein and activity namespace: medical_genetics comment: An enzyme that hydrolyzes beta-glucosides in cerebrosides. is_a: HP:0004344 ! Abnormality of cerebrosidase metabolism [Term] id: HP:0003657 name: Granular osmiophilic deposits (GROD) in cells namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0003658 name: Decreased serum methionine namespace: medical_genetics synonym: "Decreased plasma methionine" EXACT [] is_a: HP:0003112 ! Abnormal serum amino acid findings [Term] id: HP:0003659 name: Onset before adolescence namespace: medical_genetics is_a: HP:0003578 ! Onset in childhood [Term] id: HP:0003660 name: Onset in utero namespace: medical_genetics is_a: HP:0003674 ! Age of onset [Term] id: HP:0003661 name: Onset in childhood or adolescence namespace: medical_genetics is_a: HP:0003578 ! Onset in childhood is_a: HP:0003674 ! Age of onset [Term] id: HP:0003662 name: Adult onset has been reported namespace: medical_genetics is_a: HP:0003581 ! Onset in adulthood [Term] id: HP:0003663 name: Onset in childhood or early adulthood namespace: medical_genetics synonym: "Onset in childhood or young adulthood" EXACT [] synonym: "Onset ranges from childhood to adulthood" EXACT [] is_a: HP:0003578 ! Onset in childhood is_a: HP:0003630 ! Variable age at onset (childhood to adult) [Term] id: HP:0003664 name: Highly variable phenotype and age of onset namespace: medical_genetics is_a: HP:0003618 ! Variable age at onset [Term] id: HP:0003665 name: Amyotrophy of the musculature of the pelvis namespace: medical_genetics is_a: HP:0001469 ! Abnormality of the musculature of the pelvis is_a: HP:0008988 ! Pelvic girdle muscle atrophy created_by: peter creation_date: 2008-04-07T10:57:00Z [Term] id: HP:0003666 name: Onset at birth or early infancy namespace: medical_genetics is_a: HP:0003577 ! Onset at birth [Term] id: HP:0003667 name: Onset before age 2 years namespace: medical_genetics is_a: HP:0003576 ! Onset in infancy [Term] id: HP:0003668 name: Peak age of onset in second decade (range childhood to 50 years) namespace: medical_genetics is_a: HP:0003588 ! Onset in second decade [Term] id: HP:0003669 name: Onset in third or fourth decade namespace: medical_genetics is_a: HP:0003674 ! Age of onset [Term] id: HP:0003670 name: Onset usually in childhood but sometimes to middle age namespace: medical_genetics is_a: HP:0003578 ! Onset in childhood [Term] id: HP:0003671 name: Amyotrophy involving the extremities namespace: medical_genetics def: "Muscular atrophy involving the extremities." [HPO:curators] is_a: HP:0003202 ! Amyotrophy is_a: HP:0009127 ! Abnormality of the musculature of the limbs created_by: peter creation_date: 2008-04-07T01:57:00Z [Term] id: HP:0003672 name: Early onset, mild and relatively uncomplicated course namespace: medical_genetics is_a: HP:0003593 ! Early onset [Term] id: HP:0003674 name: Age of onset namespace: medical_genetics is_a: HP:0000004 ! Onset and clinical course [Term] id: HP:0003676 name: Progressive disorder namespace: medical_genetics is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003677 name: Slow progression namespace: medical_genetics alt_id: HP:0003675 synonym: "Slow disease progression" EXACT [] synonym: "Slowly progressive" EXACT [] synonym: "Slowly progressive disorder" EXACT [] is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003678 name: Rapidly progressive namespace: medical_genetics synonym: "Rapid progression" EXACT [] is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003679 name: Pace of progression namespace: medical_genetics is_a: HP:0000004 ! Onset and clinical course [Term] id: HP:0003680 name: Nonprogressive disorder namespace: medical_genetics synonym: "Nonprogressive" EXACT [] synonym: "Nonprogressive course" EXACT [] is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003681 name: Very slow progression namespace: medical_genetics is_a: HP:0003677 ! Slow progression [Term] id: HP:0003682 name: Variable progression rate namespace: medical_genetics is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003683 name: Large beaked nose namespace: medical_genetics is_a: HP:0000444 ! Beaked nose [Term] id: HP:0003684 name: Spontaneous, recurrent epistaxis (onset childhood) namespace: medical_genetics is_a: HP:0004406 ! Spontaneous, recurrent epistaxis [Term] id: HP:0003685 name: Nonprogressive or slowly progressive namespace: medical_genetics is_a: HP:0003677 ! Slow progression is_a: HP:0003680 ! Nonprogressive disorder [Term] id: HP:0003686 name: Muscle weakness, diffuse namespace: medical_genetics is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003687 name: Centralized nuclei namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003688 name: Muscle biopsy shows decreased activity of cytochrome C oxidase namespace: medical_genetics synonym: "Cytochrome c oxidase deficiency in skeletal muscle" EXACT [] synonym: "Skeletal muscle biopsy shows decreased cytochrome c oxidase activity" EXACT [] is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003689 name: Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions namespace: medical_genetics is_a: HP:0009141 ! Depletion of mitochondrial DNA in muscle tissue [Term] id: HP:0003690 name: Limb muscle weakness namespace: medical_genetics def: "Weakness of the muscles of the arms and legs." [HPO:curators] is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003691 name: Scapular winging namespace: medical_genetics alt_id: HP:0000783 synonym: "Winged scapulae" EXACT [] synonym: "Winged scapulas" EXACT [] is_a: HP:0000782 ! Abnormality of the scapulae is_a: HP:0001435 ! Abnormality of the shoulder musculature [Term] id: HP:0003692 name: Hip girdle muscle weakness (usually presenting symptom) namespace: medical_genetics def: "Weakness of the hip-girdle muscles." [HPO:curators] comment: The portion of this term "(usually presenting symptom)" will be deleted in the future. is_a: HP:0003749 ! Pelvic girdle muscle weakness [Term] id: HP:0003693 name: Distal amyotrophy namespace: medical_genetics alt_id: HP:0002484 alt_id: HP:0003486 alt_id: HP:0003699 alt_id: HP:0009015 alt_id: HP:0009040 alt_id: HP:0009065 def: "Muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] synonym: "Amyotrophy of distal limb muscles" EXACT [] synonym: "Distal 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 [] is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003694 name: Proximal muscle weakness occurs later namespace: medical_genetics def: "Lack of strength of the proximal musculature occuring late in the clinical course." [HPO:curators] is_a: HP:0003701 ! Muscle weakness, proximal [Term] id: HP:0003696 name: Absent epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 5th finger." [HPO:curators] 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 created_by: peter creation_date: 2008-12-22T01:37:43Z [Term] id: HP:0003697 name: Scapuloperoneal atrophy namespace: medical_genetics is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003698 name: Difficulty standing namespace: medical_genetics synonym: "Difficulty in standing" EXACT [] is_a: HP:0004302 ! Functional motor problems. [Term] id: HP:0003700 name: Generalized amyotrophy namespace: medical_genetics alt_id: HP:0009043 alt_id: HP:0009052 alt_id: HP:0009068 def: "Generalized wasting of loss of muscle tissue." [HPO:curators] synonym: "Generalized muscle atrophy" EXACT [] synonym: "Muscle atrophy, generalized" EXACT [] synonym: "Muscular atrophy, generalized" EXACT [] is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003701 name: Muscle weakness, proximal namespace: medical_genetics alt_id: HP:0003432 def: "A lack of strength of the proximal muscles." [HPO:curators] synonym: "Proximal limb muscle weakness" EXACT [] synonym: "Proximal limb weakness" EXACT [] synonym: "Proximal muscle weakness" EXACT [] is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003702 name: Neurogenic muscle atrophy namespace: medical_genetics alt_id: HP:0007356 synonym: "Muscle atrophy, neurogenic" EXACT [] synonym: "Neurogenic muscular atrophy" EXACT [] is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003703 name: Calf hypertrophy namespace: medical_genetics is_a: HP:0001430 ! Abnormality of the calf musculature [Term] id: HP:0003704 name: Scapuloperoneal weakness namespace: medical_genetics synonym: "Neurogenic scapuloperoneal syndrome" EXACT [] is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003705 name: Muscle biopsy shows nonspecific myopathic changes namespace: medical_genetics synonym: "Nonspecific myopathy" EXACT [] is_a: HP:0003198 ! Myopathy [Term] id: HP:0003706 name: Positive staining for ATPase activity at pH of 4.3 namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003707 name: Calf muscle pseudohypertrophy namespace: medical_genetics synonym: "Pseudohypertrophy of the calves" EXACT [] is_a: HP:0001430 ! Abnormality of the calf musculature [Term] id: HP:0003708 name: Merosin-positive biopsy namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003710 name: Muscle cramps with exercise namespace: medical_genetics synonym: "Exercise-induced muscle cramping" EXACT [] synonym: "Muscle cramps on exercise" EXACT [] synonym: "Muscle cramps with exertion" EXACT [] is_a: HP:0003394 ! Muscle cramps [Term] id: HP:0003712 name: Muscle hypertrophy namespace: medical_genetics def: "Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells)." [HPO:curators] synonym: "Hypertrophic muscles" EXACT [] synonym: "Muscular hypertrophy" EXACT [] is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003713 name: Muscle fiber necrosis namespace: medical_genetics def: "Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to region of muscle fiber." [HPO:curators] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003714 name: Lower leg atrophy namespace: medical_genetics def: "Atrophy affecting the lower leg." [HPO:curators] is_a: HP:0003746 ! Amyotrophy involving the lower limbs [Term] id: HP:0003715 name: Muscle biopsy shows myofibrillar myopathy namespace: medical_genetics synonym: "Muscle biopsy shows myofibrillar changes" EXACT [] is_a: HP:0003198 ! Myopathy [Term] id: HP:0003716 name: Generalized muscular appearance from birth namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003717 name: Minimal subcutaneous fat namespace: medical_genetics is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0003719 name: Muscle mounding namespace: medical_genetics comment: Transient swelling of muscle induced by percussion. is_a: HP:0004304 ! Transient swelling of muscle induced by percussion [Term] id: HP:0003720 name: Generalized muscle hypertrophy namespace: medical_genetics def: "Hypertrophy (increase in size) of muscle cells in a generalized (not localized) distribution." [HPO:curators] is_a: HP:0003712 ! Muscle hypertrophy [Term] id: HP:0003722 name: Neck flexor weakness namespace: medical_genetics alt_id: HP:0000469 alt_id: HP:0003722 def: "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)." [HPO:curators] synonym: "Neck flexion weakness" EXACT [] synonym: "Neck flexor muscle weakness" EXACT [] is_a: HP:0000467 ! Neck muscle weakness [Term] id: HP:0003723 name: Generalized muscle weakness, proximal and distal namespace: medical_genetics def: "Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature." [HPO:curators] is_a: HP:0003324 ! Generalized muscle weakness [Term] id: HP:0003724 name: Shoulder girdle muscle atrophy namespace: medical_genetics def: "Amyotrophy affecting the muscles of the shoulder girdle." [HPO:curators] synonym: "Shoulder girdle atrophy" EXACT [] synonym: "Shoulder girdle muscle wasting" EXACT [] synonym: "Shoulder-girdle muscle atrophy" EXACT [] is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0003725 name: Firm muscles namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003726 name: Muscle biopsy shows necrotic and atrophic fibers with centralized nuclei namespace: medical_genetics is_a: HP:0003713 ! Muscle fiber necrosis [Term] id: HP:0003727 name: Tongue fasciculation/fibrillation namespace: medical_genetics synonym: "Tongue fasciculations/fibrillations" EXACT [] is_a: HP:0002380 ! Fasciculations [Term] id: HP:0003728 name: Distal limb muscle weakness occurs later namespace: medical_genetics is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0003729 name: Enteroviral dermatomyositis syndrome namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003730 name: EMG shows spontaneous, repetitive electrical activity ('myotonic runs') namespace: medical_genetics synonym: "Emg shows spontaneous, repetitive electrical activity" EXACT [] is_a: HP:0002486 ! Myotonia [Term] id: HP:0003731 name: Quadriceps muscle weakness namespace: medical_genetics def: "Weakness of the quadriceps muscles." [HPO:curators] synonym: "Quadriceps weakness" EXACT [] is_a: HP:0007340 ! Lower limb muscle weakness [Term] id: HP:0003733 name: Thigh hypertrophy namespace: medical_genetics is_a: HP:0008968 ! Muscle hypertrophy of the lower extremities [Term] id: HP:0003734 name: Muscle biopsy shows decreased activity of cytochrome C oxidase in most cases namespace: medical_genetics is_a: HP:0003688 ! Muscle biopsy shows decreased activity of cytochrome C oxidase [Term] id: HP:0003735 name: Decreased caveolin-3 expression on muscle biopsy namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003736 name: Autophagic vacuoles namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003737 name: Mitochondrial myopathy namespace: medical_genetics is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction [Term] id: HP:0003738 name: Exercise-induced myalgia namespace: medical_genetics synonym: "Exercise-induced muscle pain" EXACT [] synonym: "Muscle pain on exercise" EXACT [] synonym: "Muscle pain with exercise" EXACT [] synonym: "Muscle pain, exercise-induced" EXACT [] is_a: HP:0003326 ! Myalgia [Term] id: HP:0003739 name: Myoclonic spasms namespace: medical_genetics is_a: HP:0004305 ! Involuntary muscle contractions [Term] id: HP:0003740 name: Myotonia improves with continued activity ('warm-up phenomenon') namespace: medical_genetics is_a: HP:0002486 ! Myotonia [Term] id: HP:0003741 name: Congenital muscular dystrophy namespace: medical_genetics is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0003742 name: Biopsy shows myopathic changes namespace: medical_genetics is_a: HP:0003198 ! Myopathy [Term] id: HP:0003743 name: Genetic anticipation namespace: medical_genetics is_a: HP:0000005 ! Inheritance [Term] id: HP:0003744 name: Paternal anticipation bias namespace: medical_genetics is_a: HP:0003743 ! Genetic anticipation [Term] id: HP:0003745 name: Sporadic namespace: medical_genetics is_a: HP:0000005 ! Inheritance [Term] id: HP:0003746 name: Amyotrophy involving the lower limbs namespace: medical_genetics alt_id: HP:0006995 alt_id: HP:0009048 def: "Muscular atrophy involving the lower limbs." [HPO:curators] synonym: "Lower limb muscle atrophy" EXACT [] synonym: "Muscle wasting in lower limbs" EXACT [] is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs is_a: HP:0003671 ! Amyotrophy involving the extremities created_by: peter creation_date: 2008-04-07T01:57:00Z [Term] id: HP:0003748 name: Amyotrophy involving the thigh namespace: medical_genetics def: "Muscular atrophy involving the muscles of the thigh." [HPO:curators] is_a: HP:0001441 ! Abnormality of the musculature of the thigh is_a: HP:0003746 ! Amyotrophy involving the lower limbs created_by: peter creation_date: 2008-04-07T01:58:00Z [Term] id: HP:0003749 name: Pelvic girdle muscle weakness namespace: medical_genetics alt_id: HP:0009036 def: "Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis." [HPO:curators] synonym: "Hip girdle weakness" EXACT [] synonym: "Pelvic girdle weakness" EXACT [] is_a: HP:0003325 ! Limb-girdle muscle weakness [Term] id: HP:0003750 name: Muscle fatigue namespace: medical_genetics def: "An abnormal, increased fatigability of the musculature." [HPO:curators] is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003752 name: Flaccid weakness or paralysis, episodic attacks namespace: medical_genetics is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0003753 name: Muscle activity is electrically silent on EMG namespace: medical_genetics is_a: HP:0003457 ! Abnormal EMG findings [Term] id: HP:0003754 name: Delayed relaxation of muscle fibers after contraction namespace: medical_genetics is_a: HP:0002486 ! Myotonia [Term] id: HP:0003755 name: Type 1 fibers are at least 12% smaller than type 2 fibers namespace: medical_genetics is_a: HP:0003557 ! Variation in muscle fiber size [Term] id: HP:0003756 name: Skeletal myopathy namespace: medical_genetics is_a: HP:0003198 ! Myopathy [Term] id: HP:0003758 name: Reduced subcutaneous adipose tissue namespace: medical_genetics synonym: "Decreased subcutaneous adipose tissue" EXACT [] synonym: "Reduced subcutaneous fat" EXACT [] synonym: "Scanty adipose tissue" EXACT [] is_a: HP:0009124 ! Abnormality of adipose tissue [Term] id: HP:0003759 name: Lymphography shows hypoplasia of lymphatic vessels namespace: medical_genetics is_a: HP:0003549 ! Abnormality of the soft tissues [Term] id: HP:0003760 name: Percussion-induced rapid rolling muscle contractions (PIRC) namespace: medical_genetics is_a: HP:0004304 ! Transient swelling of muscle induced by percussion [Term] id: HP:0003761 name: Calcinosis namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003762 name: Uterus didelphys namespace: medical_genetics is_a: HP:0000130 ! Abnormality of the uterus [Term] id: HP:0003763 name: Bruxism namespace: medical_genetics is_a: HP:0000715 ! Behavioral disturbances [Term] id: HP:0003764 name: Abnormal or excess nevi namespace: medical_genetics synonym: "Abnormal nevus" EXACT [] synonym: "Nevi" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0003765 name: Psoriasis namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0003767 name: Mental retardation if untreated namespace: medical_genetics is_a: HP:0001249 ! Mental retardation [Term] id: HP:0003768 name: Periodic paralysis namespace: medical_genetics synonym: "Episodic paralysis" EXACT [] is_a: HP:0003470 ! Paralysis [Term] id: HP:0003769 name: All cases sporadic namespace: medical_genetics alt_id: HP:0003747 synonym: "All cases have been sporadic" EXACT [] synonym: "All reported cases sporadic" EXACT [] is_a: HP:0003745 ! Sporadic [Term] id: HP:0003770 name: Thin dental enamel namespace: medical_genetics is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0003771 name: Pulp stones namespace: medical_genetics is_a: HP:0006479 ! Abnormality of the dental pulp [Term] id: HP:0003774 name: End stage renal disease namespace: medical_genetics synonym: "End stage renal failure" EXACT [] synonym: "End-stage renal disease" EXACT [] is_a: HP:0000083 ! Renal failure [Term] id: HP:0003775 name: Mild facial asymmetry namespace: medical_genetics is_a: HP:0000324 ! Facial asymmetry [Term] id: HP:0003777 name: Pili torti namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0003778 name: Short mandibular rami namespace: medical_genetics alt_id: HP:0005447 synonym: "Short body and ramus of mandible" EXACT [] synonym: "Short mandibular ramus" EXACT [] synonym: "Underdeveloped mandibular rami" EXACT [] is_a: HP:0000210 ! Micrognathia [Term] id: HP:0003779 name: Antegonial notching of mandible namespace: medical_genetics is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0003780 name: Poorly ossified skull namespace: medical_genetics synonym: "Poorly ossified skull bones" EXACT [] is_a: HP:0004331 ! Decreased skull ossification [Term] id: HP:0003781 name: Excessive salivation namespace: medical_genetics is_a: HP:0000153 ! Abnormality of the mouth [Term] id: HP:0003782 name: Eunuchoid habitus namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0003783 name: Externally rotated/abducted legs namespace: medical_genetics is_a: HP:0002814 ! Abnormality of the lower limbs [Term] id: HP:0003784 name: Type 1 collagen overmodification namespace: medical_genetics is_a: HP:0003330 ! Abnormal bone laboratory examination [Term] id: HP:0003785 name: Decreased CSF homovanillic acid (HVA) namespace: medical_genetics is_a: HP:0002921 ! Abnormal CSF findings [Term] id: HP:0003786 name: Severe constipation namespace: medical_genetics is_a: HP:0002019 ! Constipation [Term] id: HP:0003787 name: Type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria namespace: medical_genetics is_a: HP:0003789 ! Minicore (multicore) myopathy [Term] id: HP:0003788 name: Generalized muscle atrophy, proximal and distal namespace: medical_genetics def: "Generalized atrophy affecting muscles of the limbs in both proximal and distal locations." [HPO:curators] is_a: HP:0003700 ! Generalized amyotrophy [Term] id: HP:0003789 name: Minicore (multicore) myopathy namespace: medical_genetics is_a: HP:0003198 ! Myopathy [Term] id: HP:0003790 name: Abnormal muscle fibers with amorphous, granular, or hyaline deposits namespace: medical_genetics is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003791 name: Deposits immunoreactive to beta-amyloid protein namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003792 name: Myotonia (usually occurs during rapid voluntary muscle movements after a period of rest) namespace: medical_genetics is_a: HP:0002486 ! Myotonia [Term] id: HP:0003793 name: Muscular dystrophy, congenital namespace: medical_genetics is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0003794 name: Open sutures namespace: medical_genetics is_a: HP:0000270 ! Delayed closure of fontanel [Term] id: HP:0003795 name: Short middle phalanges (feet) namespace: medical_genetics is_a: HP:0001767 ! Short toes [Term] id: HP:0003796 name: Irregular iliac crest namespace: medical_genetics def: "Irregularity of the iliac crest, which is the superior border of the wing of the ilium." [HPO:curators] is_a: HP:0002867 ! Iliac abnormalities [Term] id: HP:0003797 name: Limb-girdle muscle atrophy namespace: medical_genetics def: "Muscular atrophy affecting the muscles of the limb girdle." [HPO:curators] is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0003798 name: Muscle biopsy shows nemaline bodies (rods) on Gomori trichrome staining namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003799 name: Marked delay in bone age namespace: medical_genetics alt_id: HP:0005742 alt_id: HP:0005843 synonym: "Marked retardation in skeletal maturation" EXACT [] synonym: "Markedly retarded bone age" EXACT [] is_a: HP:0002750 ! Delayed skeletal maturation [Term] id: HP:0003800 name: Muscle abnormality related to mitochondrial dysfunction namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003801 name: Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions in most cases namespace: medical_genetics synonym: "Muscle biopsy shows multiple mitochondrial dna deletions in most cases" EXACT [] is_a: HP:0003689 ! Muscle biopsy shows multiple mitochondrial DNA (mtDNA) deletions [Term] id: HP:0003802 name: Muscle biopsy shows nonspecific myopathic changes without dystrophic or inflammatory changes namespace: medical_genetics is_a: HP:0003705 ! Muscle biopsy shows nonspecific myopathic changes [Term] id: HP:0003803 name: Muscle biopsy shows type 1 fiber predominance namespace: medical_genetics alt_id: HP:0003721 alt_id: HP:0003807 synonym: "Muscle biopsy shows type I fiber predominance" EXACT [] synonym: "Type 1 muscle fiber predominance" EXACT [] is_a: HP:0004303 ! Abnormality of muscle fibers [Term] id: HP:0003804 name: Minicore regions are poorly defined and do not extend through entire fiber length namespace: medical_genetics is_a: HP:0003789 ! Minicore (multicore) myopathy [Term] id: HP:0003805 name: Rimmed vacuoles namespace: medical_genetics synonym: "'rimmed vacuoles' on biopsy" EXACT [] synonym: "'rimmed' vacuoles on biopsy" EXACT [] is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003806 name: Dystrophic changes may be present namespace: medical_genetics is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0003808 name: Abnormal muscle tone namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0003809 name: Nearly complete absence of metabolically active adipose tissue (subcutaneous, intraabdominal, intrathoracic) namespace: medical_genetics is_a: HP:0009124 ! Abnormality of adipose tissue [Term] id: HP:0003810 name: Distal muscle weakness occurs later namespace: medical_genetics is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0003811 name: Neonatal death namespace: medical_genetics synonym: "Neonatal lethal" EXACT [] is_a: HP:0003827 ! Death in neonatal period or infancy [Term] id: HP:0003812 name: Phenotypic variability namespace: medical_genetics is_a: HP:0000004 ! Onset and clinical course [Term] id: HP:0003813 name: Variable phenotype namespace: medical_genetics synonym: "Variable phenotypic severity" EXACT [] is_a: HP:0003812 ! Phenotypic variability [Term] id: HP:0003814 name: Variable severity namespace: medical_genetics is_a: HP:0003813 ! Variable phenotype [Term] id: HP:0003815 name: Highly variable phenotype namespace: medical_genetics synonym: "Highly variable clinical phenotype" EXACT [] is_a: HP:0003813 ! Variable phenotype [Term] id: HP:0003816 name: Death in early infancy namespace: medical_genetics is_a: HP:0003818 ! Infantile death [Term] id: HP:0003817 name: Death in early childhood namespace: medical_genetics is_a: HP:0003819 ! Death in childhood [Term] id: HP:0003818 name: Infantile death namespace: medical_genetics is_a: HP:0003827 ! Death in neonatal period or infancy [Term] id: HP:0003819 name: Death in childhood namespace: medical_genetics is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003820 name: Neonatal death frequent namespace: medical_genetics is_a: HP:0003811 ! Neonatal death [Term] id: HP:0003821 name: Highly variable phenotype and severity namespace: medical_genetics is_a: HP:0003815 ! Highly variable phenotype [Term] id: HP:0003822 name: Highly variable phenotype, even within families namespace: medical_genetics is_a: HP:0003815 ! Highly variable phenotype [Term] id: HP:0003823 name: Stillborn or death in infancy namespace: medical_genetics synonym: "Stillborn or infantile death usual in prenatal form" EXACT [] is_a: HP:0003818 ! Infantile death [Term] id: HP:0003824 name: Death in majority of infants soon after birth namespace: medical_genetics is_a: HP:0003811 ! Neonatal death [Term] id: HP:0003825 name: Highly variable severity namespace: medical_genetics is_a: HP:0003814 ! Variable severity [Term] id: HP:0003826 name: Stillborn or neonatal death namespace: medical_genetics synonym: "Stillborn or lethal in the neonatal period" EXACT [] is_a: HP:0003811 ! Neonatal death [Term] id: HP:0003827 name: Death in neonatal period or infancy namespace: medical_genetics is_a: HP:0003679 ! Pace of progression [Term] id: HP:0003828 name: Variable expressivity namespace: medical_genetics is_a: HP:0003813 ! Variable phenotype [Term] id: HP:0003829 name: Incomplete penetrance namespace: medical_genetics is_a: HP:0003812 ! Phenotypic variability [Term] id: HP:0003830 name: Reduced penetrance namespace: medical_genetics is_a: HP:0003829 ! Incomplete penetrance [Term] id: HP:0003831 name: Age-dependent penetrance namespace: medical_genetics synonym: "Age dependent penetrance" EXACT [] is_a: HP:0003829 ! Incomplete penetrance [Term] id: HP:0003832 name: Abnormality of the tibial plateaux namespace: medical_genetics is_a: HP:0002992 ! Abnormality of the tibia [Term] id: HP:0003833 name: Laterally deficient tibial plateaux namespace: medical_genetics is_a: HP:0003832 ! Abnormality of the tibial plateaux [Term] id: HP:0003834 name: Shoulder dislocation namespace: medical_genetics is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003835 name: Shoulder subluxation namespace: medical_genetics is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003836 name: Stippled calcification of the shoulder namespace: medical_genetics is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003837 name: Soft-tissue ossification around the shoulders namespace: medical_genetics is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0003839 name: Abnormality involving the epiphyses of the upper limbs namespace: medical_genetics is_a: HP:0002817 ! Abnormality of the upper limbs is_a: HP:0006505 ! Abnormality involving the epiphyses of the limbs [Term] id: HP:0003840 name: Delayed maturation/ossification of the epiphyses of the upper limbs namespace: medical_genetics is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003841 name: Fragmented epiphyses of the upper limbs namespace: medical_genetics is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003842 name: Irregular epiphyses of the upper limbs namespace: medical_genetics is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003843 name: Round epiphyses of the upper limbs namespace: medical_genetics is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003844 name: Small epiphyses of the upper limbs namespace: medical_genetics is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003845 name: Epihyseal plate abnormality of the upper limbs namespace: medical_genetics is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003846 name: Wide/broad epiphyseal plates of the upper limbs namespace: medical_genetics is_a: HP:0003845 ! Epihyseal plate abnormality of the upper limbs [Term] id: HP:0003848 name: Cupped metaphyses of the upper limbs namespace: medical_genetics is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003849 name: Flared metaphyses of the upper limbs namespace: medical_genetics is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003850 name: Irregular metaphyses of the upper limbs namespace: medical_genetics is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003851 name: Lytic defects in metaphyses of the upper limbs namespace: medical_genetics is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003852 name: Normal density transverse bands in metaphyses of the upper limbs namespace: medical_genetics is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003853 name: Sclerosis with transverse striations in metaphyses of the upper limbs namespace: medical_genetics is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs [Term] id: HP:0003854 name: Sclerosis of metaphyses of the upper limbs namespace: medical_genetics is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003855 name: Spurred metaphyses of the upper limbs namespace: medical_genetics is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003856 name: Wide/broad metaphyses of the upper limbs namespace: medical_genetics is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0003858 name: Cortical diaphyseal irregularity of the upper limbs namespace: medical_genetics is_a: HP:0009808 ! Abnormality involving the diaphyses of the upper limbs [Term] id: HP:0003859 name: Cortical diaphyseal thickening of the upper limbs namespace: medical_genetics is_a: HP:0009808 ! Abnormality involving the diaphyses of the upper limbs [Term] id: HP:0003860 name: Diaphyseal sclerosis of the upper limbs namespace: medical_genetics is_a: HP:0009808 ! Abnormality involving the diaphyses of the upper limbs [Term] id: HP:0003861 name: Wide/broad diaphyses of the upper limbs namespace: medical_genetics is_a: HP:0009808 ! Abnormality involving the diaphyses of the upper limbs [Term] id: HP:0003862 name: Absent ossification/absent humeri namespace: medical_genetics is_a: HP:0006507 ! Aplasia/Hypoplasia of the humerus [Term] id: HP:0003863 name: Angulated humerus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003864 name: Bifid humerus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003865 name: Bowed humerus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri is_a: HP:0006488 ! Bowing of the arms [Term] id: HP:0003866 name: Coarse trabeculae (humeral) namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003867 name: Cortical irregularity (humeral) namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003868 name: Cortical thickening (humeral) namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003869 name: Cortical thinning (humeral) namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003870 name: Crumpled humerus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003871 name: Deformed humerus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003872 name: Exostoses (humeral) namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003873 name: Fractured humerus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003874 name: Humerus varus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003875 name: Lytic defects (humeral) namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003876 name: Osteoporotic humerus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003877 name: Oval transradiancy (humeral) namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003878 name: Periosteal new bone (humeral) namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003879 name: Pseudarthrosis (humeral) namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003880 name: Sclerotic foci (humeral) namespace: medical_genetics is_a: HP:0003881 ! Sclerosis (humeral) [Term] id: HP:0003881 name: Sclerosis (humeral) namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003882 name: Slender humerus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003883 name: Tapered humerus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003884 name: Triangular humerus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003885 name: Undermodeled humerus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003886 name: Wide/broad humerus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003887 name: Abnormality of the humeral heads namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003888 name: Flattened humeral heads namespace: medical_genetics is_a: HP:0003887 ! Abnormality of the humeral heads [Term] id: HP:0003889 name: Abnormality of the deltoid tuberosities namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003890 name: Prominent deltoid tuberosities namespace: medical_genetics is_a: HP:0003889 ! Abnormality of the deltoid tuberosities [Term] id: HP:0003891 name: Abnormality of the humeral epiphyses namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003892 name: Absent ossification/Absence of the humeral epiphyses namespace: medical_genetics is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003893 name: Advanced maturation/advanced ossification of the humeral epiphyses namespace: medical_genetics is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003894 name: Delayed maturation/delayed ossification of the humeral epiphyses namespace: medical_genetics is_a: HP:0003840 ! Delayed maturation/ossification of the epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003895 name: Flattened humeral epiphyses namespace: medical_genetics is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003896 name: Irregular humeral epiphyses namespace: medical_genetics is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003897 name: Irregular ossification of the humeral epiphyses namespace: medical_genetics is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003898 name: Large humeral epiphyses namespace: medical_genetics is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003899 name: Round humeral epiphyses namespace: medical_genetics is_a: HP:0003843 ! Round epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003900 name: Small humeral epiphyses namespace: medical_genetics is_a: HP:0003844 ! Small epiphyses of the upper limbs is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003901 name: Stippled calcification of the humeral epiphyses namespace: medical_genetics is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003902 name: Stippled ossification of the humeral epiphyses namespace: medical_genetics is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003903 name: Wide/broad humeral epiphyses namespace: medical_genetics is_a: HP:0003891 ! Abnormality of the humeral epiphyses is_a: HP:0003904 ! Wide/broad epiphyses of the upper limbs [Term] id: HP:0003904 name: Wide/broad epiphyses of the upper limbs namespace: medical_genetics is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0003905 name: Abnormality of the humeral epiphyseal plate namespace: medical_genetics is_a: HP:0003891 ! Abnormality of the humeral epiphyses [Term] id: HP:0003906 name: Wide/broad humeral epiphyseal plate namespace: medical_genetics is_a: HP:0003846 ! Wide/broad epiphyseal plates of the upper limbs is_a: HP:0003905 ! Abnormality of the humeral epiphyseal plate [Term] id: HP:0003907 name: Abnormality of the humeral metaphyses namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003908 name: Corner spurs (humeral metaphyses) namespace: medical_genetics is_a: HP:0003922 ! Spurred humeral metaphysis [Term] id: HP:0003909 name: Cortical subperiosteal resorption (humeral metaphyses) namespace: medical_genetics is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003910 name: Expanded humeral metaphyses namespace: medical_genetics is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003911 name: Flared humeral metaphyses namespace: medical_genetics is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003912 name: Frayed humeral metaphyses namespace: medical_genetics is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003913 name: Irregular humeral metaphyses namespace: medical_genetics is_a: HP:0003850 ! Irregular metaphyses of the upper limbs is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003914 name: Irregular ossification of humeral metaphyses namespace: medical_genetics is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003915 name: Lytic defects of the humeral metaphsis namespace: medical_genetics is_a: HP:0003851 ! Lytic defects in metaphyses of the upper limbs is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003916 name: Normal-density transverse bands (humerus) namespace: medical_genetics is_a: HP:0003852 ! Normal density transverse bands in metaphyses of the upper limbs is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003917 name: Pointed humeral metaphysis namespace: medical_genetics is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003918 name: Sclerotic humeral metaphysis namespace: medical_genetics is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003919 name: Sclerotic humeral metaphysis with longitudinal striations namespace: medical_genetics is_a: HP:0003918 ! Sclerotic humeral metaphysis [Term] id: HP:0003920 name: Sloping humeral metaphysis namespace: medical_genetics is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003921 name: Laterally sloping humeral metaphysis namespace: medical_genetics is_a: HP:0003920 ! Sloping humeral metaphysis [Term] id: HP:0003922 name: Spurred humeral metaphysis namespace: medical_genetics is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003923 name: Square humeral metaphysis namespace: medical_genetics is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003924 name: Stippled calcification of humeral metaphysis namespace: medical_genetics is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003925 name: Wide/broad humeral metaphysis namespace: medical_genetics is_a: HP:0003907 ! Abnormality of the humeral metaphyses [Term] id: HP:0003926 name: Abnormality of the humeral diaphysis namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0003927 name: Cortical irregularity of humeral diaphysis namespace: medical_genetics is_a: HP:0003858 ! Cortical diaphyseal irregularity of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003928 name: Cortical thickening of humeral diaphysis namespace: medical_genetics is_a: HP:0003859 ! Cortical diaphyseal thickening of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003929 name: Ground glass opacity of humeral diaphysis namespace: medical_genetics is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003930 name: Lytic defects of humeral diaphysis namespace: medical_genetics synonym: "Humeral diaphyseal lysis" EXACT [] is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003931 name: Periosteal new bone (humeral diaphysis) namespace: medical_genetics is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003932 name: Sclerotic foci of humeral diaphysis namespace: medical_genetics is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003933 name: Sclerosis of humeral diaphysis namespace: medical_genetics is_a: HP:0003860 ! Diaphyseal sclerosis of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003934 name: Slender humeral diaphysis namespace: medical_genetics is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003935 name: Wide/broad humeral diaphysis namespace: medical_genetics is_a: HP:0003861 ! Wide/broad diaphyses of the upper limbs is_a: HP:0003926 ! Abnormality of the humeral diaphysis [Term] id: HP:0003936 name: Humeral radial synostosis namespace: medical_genetics synonym: "Humeral-radial synostosis" EXACT [] synonym: "Humeroradial synostosis" EXACT [] is_a: HP:0003938 ! Synostosis involving the elbow [Term] id: HP:0003937 name: Elbow flexion deformity namespace: medical_genetics is_a: HP:0002987 ! Elbow contractures [Term] id: HP:0003938 name: Synostosis involving the elbow namespace: medical_genetics is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003939 name: Humeral ulnar synostosis namespace: medical_genetics is_a: HP:0003938 ! Synostosis involving the elbow [Term] id: HP:0003940 name: Osteoarthritis of the elbow namespace: medical_genetics is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003941 name: Stippled calcification of the elbow namespace: medical_genetics is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003942 name: Synovial chondromatosis of the elbow namespace: medical_genetics is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003943 name: Abnormality of the joint spaces of the elbow namespace: medical_genetics is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003944 name: Narrow joint spaces of the elbow namespace: medical_genetics is_a: HP:0003943 ! Abnormality of the joint spaces of the elbow [Term] id: HP:0003945 name: Irregular articular surfaces of the elbow joints namespace: medical_genetics is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003946 name: Abnormality of the epiphyses of the elbow namespace: medical_genetics is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003947 name: Delayed maturation/delayed ossification of the epiphyses of the elbow namespace: medical_genetics is_a: HP:0003840 ! Delayed maturation/ossification of the epiphyses of the upper limbs is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow [Term] id: HP:0003948 name: Irregular epiphyses of the elbow namespace: medical_genetics is_a: HP:0003842 ! Irregular epiphyses of the upper limbs is_a: HP:0003946 ! Abnormality of the epiphyses of the elbow [Term] id: HP:0003949 name: Abnormality of the elbow metaphyses namespace: medical_genetics is_a: HP:0009811 ! Abnormality of the elbow [Term] id: HP:0003950 name: Flared metaphyses (elbow) namespace: medical_genetics is_a: HP:0003849 ! Flared metaphyses of the upper limbs is_a: HP:0003949 ! Abnormality of the elbow metaphyses [Term] id: HP:0003951 name: Irregular metaphyses (elbow) namespace: medical_genetics is_a: HP:0003850 ! Irregular metaphyses of the upper limbs is_a: HP:0003949 ! Abnormality of the elbow metaphyses [Term] id: HP:0003952 name: Sclerotic foci of metaphyses of the elbow namespace: medical_genetics synonym: "Vertical linear mixed lucent and sclerotic pattern of metaphyses" EXACT [] is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs is_a: HP:0003949 ! Abnormality of the elbow metaphyses [Term] id: HP:0003953 name: Absent ossification/absent forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003954 name: Angulated forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003955 name: Bone-in-a-bone appearance (forearm) namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003956 name: Bowed forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0006488 ! Bowing of the arms [Term] id: HP:0003957 name: Cortical thickening of the forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003958 name: Cross-fusion of the forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003959 name: Deformed forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003960 name: Exostoses of the forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003961 name: Fractured forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003962 name: Fused forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003963 name: Lytic defects of the forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003964 name: Osteoporotic forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003965 name: Pseudarthrosis of the forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003966 name: Sclerotic foci in forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003967 name: Sclerotic forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003969 name: Slender forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003970 name: Undermodelled forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003971 name: Wide/broad forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0003973 name: Wide/broad radioulnar joints namespace: medical_genetics is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0003974 name: Absent ossification/absence of radius namespace: medical_genetics alt_id: HP:0002819 synonym: "Absent radius" EXACT [] synonym: "Radial aplasia" EXACT [] is_a: HP:0003953 ! Absent ossification/absent forearm bones is_a: HP:0006501 ! Aplasia/Hypoplasia of the radius [Term] id: HP:0003975 name: Chevron-shaped/cone-shaped radius namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003976 name: Constricted radius namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003977 name: Deformed radius namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003978 name: Fractured radius namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003961 ! Fractured forearm bones [Term] id: HP:0003979 name: Lytic defects of the radius namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003963 ! Lytic defects of the forearm bones [Term] id: HP:0003980 name: Pseudarthrosis of the radius namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003965 ! Pseudarthrosis of the forearm bones [Term] id: HP:0003981 name: Wide/broad radius namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003971 ! Wide/broad forearm bones [Term] id: HP:0003982 name: Absent ossification/absent ulna namespace: medical_genetics is_a: HP:0003953 ! Absent ossification/absent forearm bones is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna [Term] id: HP:0003983 name: Curved ulna namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003984 name: Posteriorly dislocated ulna namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003985 name: Exostoses of the ulna namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003960 ! Exostoses of the forearm bones [Term] id: HP:0003986 name: Exostoses of the radius namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003960 ! Exostoses of the forearm bones [Term] id: HP:0003987 name: Fractured ulna namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003988 name: Long ulna namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003989 name: Notched ulna namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003990 name: Pointed ulna namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003991 name: Sclerotic ulna namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0003992 name: Slender ulna namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003969 ! Slender forearm bones [Term] id: HP:0003993 name: Wide/broad ulna namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003971 ! Wide/broad forearm bones [Term] id: HP:0003994 name: Dislocated wrist namespace: medical_genetics is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0003995 name: Abnormality of the radial head namespace: medical_genetics synonym: "Deformity of radial heads" EXACT [] is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003996 name: Flattened radial head namespace: medical_genetics is_a: HP:0003995 ! Abnormality of the radial head [Term] id: HP:0003997 name: Hypoplastic radial head namespace: medical_genetics synonym: "Small radial head" EXACT [] is_a: HP:0003995 ! Abnormality of the radial head [Term] id: HP:0003998 name: Constricted radial neck namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0003999 name: Abnormality of radial epiphyses namespace: medical_genetics alt_id: HP:0004011 synonym: "Abnormality of radial epiphyseal plates" EXACT [] is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0004000 name: Chevron-shaped/cone-shaped radial epiphyses namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004001 name: Medially deficient radial epiphyses namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004002 name: Flattened radial epiphyses namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004003 name: Medially flattened radial epiphyses namespace: medical_genetics is_a: HP:0004002 ! Flattened radial epiphyses [Term] id: HP:0004004 name: Irregular radial epiphyses namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004005 name: Large radial epiphyses namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004006 name: Round radial epiphyses namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004007 name: Sclerotic radial epiphyses namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004008 name: Sloping radial epiphyses namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004009 name: Medially sloping radial epiphyses namespace: medical_genetics is_a: HP:0004008 ! Sloping radial epiphyses [Term] id: HP:0004010 name: Small radial epiphyses namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004012 name: Fused radial epiphyseal plates namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004013 name: Medially fused radial epiphyseal plates namespace: medical_genetics is_a: HP:0004012 ! Fused radial epiphyseal plates [Term] id: HP:0004014 name: Wide/broad radial epiphyseal plates namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0004015 name: Abnormality of radial metaphyses namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0009809 ! Abnormality involving the metaphyses of the upper limbs [Term] id: HP:0004016 name: Cupped radial metaphyses namespace: medical_genetics is_a: HP:0003848 ! Cupped metaphyses of the upper limbs is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004017 name: Exostoses of the radial metaphysis namespace: medical_genetics is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004018 name: Flared radial metaphyses namespace: medical_genetics is_a: HP:0003849 ! Flared metaphyses of the upper limbs is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004019 name: Irregular radial metaphysis namespace: medical_genetics is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004020 name: Irregular ossification of the radial metaphysis namespace: medical_genetics is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004021 name: Lytic defects of radial metaphysis namespace: medical_genetics is_a: HP:0003851 ! Lytic defects in metaphyses of the upper limbs is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004022 name: Sclerotic radial metaphysis with longitudinal striations namespace: medical_genetics is_a: HP:0003854 ! Sclerosis of metaphyses of the upper limbs is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004023 name: Sloping radial metaphysis namespace: medical_genetics is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004024 name: Medially sloping radial metaphysis namespace: medical_genetics is_a: HP:0004023 ! Sloping radial metaphysis [Term] id: HP:0004025 name: Spurred radial metaphysis namespace: medical_genetics is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004026 name: Wide/broad radial metaphysis namespace: medical_genetics is_a: HP:0003856 ! Wide/broad metaphyses of the upper limbs is_a: HP:0003981 ! Wide/broad radius is_a: HP:0004015 ! Abnormality of radial metaphyses [Term] id: HP:0004027 name: Abnormality of radial diaphysis namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0004028 name: Spurs of radial diaphysis namespace: medical_genetics is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004029 name: Lytic defects of radial diaphysis namespace: medical_genetics is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004030 name: Patchy sclerosis of radial diaphysis namespace: medical_genetics is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004031 name: Wide/broad radial diapyhsis namespace: medical_genetics is_a: HP:0004027 ! Abnormality of radial diaphysis [Term] id: HP:0004032 name: Abnormality of the olecranon namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0004033 name: Curved olecranon namespace: medical_genetics is_a: HP:0004032 ! Abnormality of the olecranon [Term] id: HP:0004034 name: Irregular olecranon namespace: medical_genetics is_a: HP:0004032 ! Abnormality of the olecranon [Term] id: HP:0004035 name: Abnormality of the styloid process namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0004036 name: Long styloid process namespace: medical_genetics is_a: HP:0004035 ! Abnormality of the styloid process [Term] id: HP:0004037 name: Abnormality of the ulnar epiphyses namespace: medical_genetics synonym: "Abnormality of the epiphyseal plate of the ulna" EXACT [] is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0003839 ! Abnormality involving the epiphyses of the upper limbs [Term] id: HP:0004038 name: Bony spikule of ulnar epiphyseal plate namespace: medical_genetics is_a: HP:0004037 ! Abnormality of the ulnar epiphyses [Term] id: HP:0004039 name: Abnormality of ulnar metaphysis namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0004040 name: Corner fragments of ulnar metaphysis namespace: medical_genetics is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004041 name: Cupped ulnar metaphysis namespace: medical_genetics is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004042 name: Irregular ulnar metaphysis namespace: medical_genetics is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004043 name: Lytic defects of ulnar metaphysis namespace: medical_genetics is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004044 name: Pointed ulnar metaphysis namespace: medical_genetics is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004045 name: Sloping ulnar metaphysis namespace: medical_genetics is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004046 name: Spurred ulnar metaphysis namespace: medical_genetics is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004047 name: Wide/broad ulnar metaphysis namespace: medical_genetics is_a: HP:0004039 ! Abnormality of ulnar metaphysis [Term] id: HP:0004048 name: Narrow joint spaces of wrist namespace: medical_genetics is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0004049 name: Decreased carpal angles of wrist namespace: medical_genetics is_a: HP:0003019 ! Abnormality of the wrist [Term] id: HP:0004050 name: Absent hands namespace: medical_genetics is_a: HP:0005927 ! Aplasia/Hypoplasia involving bones of the hand [Term] id: HP:0004051 name: Advanced maturation/advanced ossification of the hand bones namespace: medical_genetics is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004052 name: Delayed maturation/delayed ossification of the hand bones namespace: medical_genetics synonym: "Delay maturation/delayed ossification of the hand" EXACT [] is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004053 name: Dysharmonic maturation of the hand bones namespace: medical_genetics is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004054 name: Sclerosis of hand bones namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0004055 name: Generalized sclerosis of hand bones namespace: medical_genetics is_a: HP:0004054 ! Sclerosis of hand bones [Term] id: HP:0004057 name: Mitten deformity namespace: medical_genetics is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004058 name: Monodactyly namespace: medical_genetics is_a: HP:0001180 ! Oligodactyly [Term] id: HP:0004059 name: Radial club namespace: medical_genetics is_a: HP:0009486 ! Radial deviation of the hand [Term] id: HP:0004060 name: Trident abnormality namespace: medical_genetics def: "A hand in which the fingers are of nearly equal length and deflected at the first interphalangeal joint, so as to give a forklike shape consisting of separation of the first and second as well as the third and fourth digits. This abnormality is often seen in patients with achondroplasia." [HPO:curators] synonym: "trident deformity" EXACT [] synonym: "trident hand" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004066 name: Laterally deviated thumb phalanges namespace: medical_genetics is_obsolete: true [Term] id: HP:0004083 name: Laterally deviated terminal thumb phalanx namespace: medical_genetics is_obsolete: true [Term] id: HP:0004090 name: Advanced maturation/advanced ossification of terminal thumb phalanx epiphysis namespace: medical_genetics is_obsolete: true [Term] id: HP:0004095 name: Curved fingers namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004097 name: Deviated fingers namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand [Term] id: HP:0004099 name: Finger overgrowth namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004100 name: Abnormality of the 2nd finger namespace: medical_genetics synonym: "Abnormality of index finger" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004110 name: Radially deviated index finger phalanges namespace: medical_genetics alt_id: HP:0004111 synonym: "Radially displaced index finger phalanges" EXACT [] is_obsolete: true [Term] id: HP:0004112 name: Midline nasal groove namespace: medical_genetics def: "An abnormal groove on the midline of the nose that may extend to the nasal tip." [HPO:curators] is_a: HP:0004122 ! Bifid nose, midline groove, or dimple on nasal tip created_by: peter creation_date: 2009-01-21T04:59:08Z [Term] id: HP:0004121 name: Radially displaced proximal index finger phalanx namespace: medical_genetics is_obsolete: true [Term] id: HP:0004122 name: Bifid nose, midline groove, or dimple on nasal tip namespace: medical_genetics def: "This term groups together three conditions that presumably represent different degrees of severity of a midline defect of the nose or nasal tip." [HPO:curators] is_a: HP:0000436 ! Abnormality of the nasal tip created_by: peter creation_date: 2009-01-21T04:59:54Z [Term] id: HP:0004132 name: Dimple on nasal tip namespace: medical_genetics def: "An abnormal indentation of the skin in the region of the nasal tip." [HPO:curators] is_a: HP:0004122 ! Bifid nose, midline groove, or dimple on nasal tip created_by: peter creation_date: 2009-01-21T05:05:55Z [Term] id: HP:0004138 name: Metaphyseal abnormality of middle phalanx of the 2nd finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004139 name: Flared metaphysis of middle phalanx of index finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004143 name: Radially deviated terminal index finger phalanx namespace: medical_genetics is_obsolete: true [Term] id: HP:0004144 name: Duplication of terminal index finger phalanx namespace: medical_genetics is_obsolete: true [Term] id: HP:0004149 name: Early lethal namespace: medical_genetics is_a: HP:0003593 ! Early onset [Term] id: HP:0004150 name: Abnormality of the 3rd finger namespace: medical_genetics synonym: "Abnormality of the middle finger" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004153 name: Overgrowth of middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004157 name: Accessory middle-finger phalanges namespace: medical_genetics is_obsolete: true [Term] id: HP:0004161 name: Periosteal new bone of middle finger phalanges namespace: medical_genetics is_obsolete: true [Term] id: HP:0004162 name: Radially pointed middle finger phalanges namespace: medical_genetics is_obsolete: true [Term] id: HP:0004168 name: Radially pointed proximal middle-finger phalanx namespace: medical_genetics is_obsolete: true [Term] id: HP:0004172 name: Abnormality of the middle phalanx of the 3rd finger namespace: medical_genetics is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger [Term] id: HP:0004174 name: Accessory middle phalanx of middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004175 name: Periosteal new bone of middle phalanx of middle-finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004180 name: Hypoplastic/small distal phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004182 def: "Hypoplastic/small distal phalanx of the 3rd (middle) finger." [HPO:curators] synonym: "Short terminal phalanx of middle finger" EXACT [] is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger is_a: HP:0009461 ! Hypoplastic/small 3rd finger [Term] id: HP:0004183 name: Abnormality of the epiphyses of the terminal phalanx of the middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004184 name: Cone-shaped epiphysis of terminal phalanx of the middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004185 name: Fused epiphysis of terminal phalanx of the middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004186 name: Large epiphysis of terminal phalanx of the middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004187 name: Prematurely fused epiphysis of terminal phalanx of the middle finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004188 name: Abnormality of the 4th finger namespace: medical_genetics synonym: "Abnormality of the ring finger" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004192 name: Bracket epiphyses of the 4th finger namespace: medical_genetics def: "The epiphyses are normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] synonym: "Bracket epiphyses of the ring finger" EXACT [] is_obsolete: true [Term] id: HP:0004193 name: Expanded phalanges of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004194 name: Hypoplastic phalanges of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004195 name: Osteolytic defects of the phalanges of the 4th finger namespace: medical_genetics def: "Osteolytic defects of the phalanges of the 4th (ring) finger." [HPO:curators] synonym: "Lytic defects of the phalanges of the ring finger" RELATED [] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009699 ! Osteolytic defects of the hand bones is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand [Term] id: HP:0004196 name: Short phalanges of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004197 name: Symphalangism of the 4th finger namespace: medical_genetics def: "Fusion of two or more bones of the 4th finger." [HPO:curators] synonym: "Symphalangism of the ring finger" EXACT [] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0004198 name: Wide/broad phalanges of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004201 name: Expanded proximal phalanx of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004202 name: Lytic defects of the proximal phalanx of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004203 name: Short proximal phalanx of the ring finger namespace: medical_genetics is_obsolete: true [Term] id: HP:0004207 name: Abnormality of the 5th finger namespace: medical_genetics synonym: "Abnormality of the little finger" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0004209 name: Clinodactyly of the 5th finger namespace: medical_genetics alt_id: HP:0004212 alt_id: HP:0009181 def: "Clinodactyly refers to a bending or curvature of the 5th finger in the radial direction (i.e., towards the 4th finger)." [HPO:curators] synonym: "Clinodactyly of the little finger" EXACT [] synonym: "Radial deviation of the 5th finger" EXACT [] is_a: HP:0009179 ! Deviation of the 5th finger is_a: HP:0009466 ! Radial deviation of fingers [Term] id: HP:0004213 name: Abnormality of the phalanges of the 5th finger namespace: medical_genetics def: "Abnormality of the phalanges of the 5th (little) finger." [HPO:curators] is_a: HP:0004207 ! Abnormality of the 5th finger [Term] id: HP:0004214 name: Curved phalanges of the 5th finger namespace: medical_genetics def: "Curved phalanges of the 5th (little) finger." [HPO:curators] is_a: HP:0004095 ! Curved fingers is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009770 ! Curved phalanges of the hand [Term] id: HP:0004216 name: Osteolytic defects of the phalanges of the 5th finger namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the phalanges of the 5th finger." [HPO:curators] synonym: "Lytic defects of the phalanges of the little finger" EXACT [] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009699 ! Osteolytic defects of the hand bones is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand [Term] id: HP:0004218 name: Symphalangism of the 5th finger namespace: medical_genetics def: "Fusion of two or more bones of the 5th finger." [HPO:curators] synonym: "Symphalagism of the little finger" EXACT [] is_a: HP:0001159 ! Syndactyly is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0004219 name: Abnormality of the middle phalanx of the 5th finger namespace: medical_genetics is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger [Term] id: HP:0004220 name: Hypoplastic/small middle phalanx of the 5th finger namespace: medical_genetics alt_id: HP:0001243 alt_id: HP:0003069 alt_id: HP:0004221 def: "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger." [HPO:curators] synonym: "5th finger middle phalangeal hypoplasia" EXACT [] synonym: "Brachymesophalangism V" EXACT [] synonym: "Fifth finger mid-phalanx hypoplasia" EXACT [] synonym: "Hypoplastic fifth finger middle phalanx" EXACT [] synonym: "Hypoplastic/small middle phalanx of the little finger" EXACT [] synonym: "Short middle phalanx of the 5th finger" EXACT [] synonym: "Short middle phalanx of the little finger" EXACT [] is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger is_a: HP:0009237 ! Hypoplastic/small 5th finger [Term] id: HP:0004222 name: Cone-shaped epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Cone-shaped epiphysis of the distal phalanx of the little finger" EXACT [] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger [Term] id: HP:0004223 name: Ivory epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics alt_id: HP:0004229 def: "Sclerosis of the epiphysis of the distal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Ivory epiphysis of the distal phalanx of the little finger" EXACT [] synonym: "Ivory epiphysis of the terminal phalanx of the little finger" EXACT [] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009388 ! Ivory epiphyses of the 5th finger [Term] id: HP:0004224 name: Abnormality of the epiphysis of the middle phalanx of the 5th finger namespace: medical_genetics def: "Abnormality of the epiphysis of the middle phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curators] is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger [Term] id: HP:0004225 name: Abnormality of the distal phalanx of the 5th finger namespace: medical_genetics def: "Abnormality of the distal phalanx of the 5th (little) finger." [HPO:curators] synonym: "Abnormality of the distal phalanx of the little finger" EXACT [] synonym: "Abnormality of the terminal phalanx of the little finger" EXACT [] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger [Term] id: HP:0004226 name: Curved distal phalanx of the 5th finger namespace: medical_genetics def: "Curved appearance of the distal phalanx of the 5th (little) finger." [HPO:curators] synonym: "Curved terminal phalanx of the little finger" EXACT [] is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009838 ! Curved distal phalanges of the hand [Term] id: HP:0004227 name: Hypoplastic/small distal phalanx of the 5th finger namespace: medical_genetics def: "Hypoplastic/small distal phalanx of the 5th (little) finger." [HPO:curators] synonym: "Brachytelophalangism V" EXACT [] synonym: "Hypo/aplasia of terminal fifth digits" EXACT [] synonym: "Hypoplastic/small terminal phalanx of the little finger" EXACT [] is_a: HP:0009237 ! Hypoplastic/small 5th finger is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger [Term] id: HP:0004230 name: Subluxation of the proximal interphalangeal joint of the little finger namespace: medical_genetics is_a: HP:0004207 ! Abnormality of the 5th finger [Term] id: HP:0004231 name: Absent carpal bones/absent ossification of the carpal bones namespace: medical_genetics synonym: "Absent carpal bones" EXACT [] is_a: HP:0006502 ! Aplasia/Hypoplasia involving the carpal bones [Term] id: HP:0004232 name: Accessory carpal bones namespace: medical_genetics synonym: "Supernumerary carpal bones" EXACT [] is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0004275 ! Duplication of hand bones [Term] id: HP:0004233 name: Advanced maturation/advanced ossification of carpal bones namespace: medical_genetics alt_id: HP:0006104 synonym: "Accelerated carpal bone maturation" EXACT [] synonym: "Advanced carpal bone age" EXACT [] synonym: "Advanced carpal ossification" EXACT [] synonym: "Precociously ossified carpal bones" EXACT [] is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0004234 name: Bone-in-a-bone appearance of carpal bones namespace: medical_genetics def: "The bone-in-bone sign is a radiographic finding produced by increased sclerosis (abnormally dense bone) occurring intermittently with zones of relatively normal bone density. This term should be used to describe such a finding in the carpal bones." [HPO:curators] is_a: HP:0009164 ! Abnormal calcification of the carpal bones [Term] id: HP:0004235 name: Comma-shaped carpal bones namespace: medical_genetics is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004236 name: Irregular carpal bones namespace: medical_genetics is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004237 name: Large carpal bones namespace: medical_genetics is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004238 name: Lytic defects of carpal bones namespace: medical_genetics is_a: HP:0001495 ! Carpal osteolysis [Term] id: HP:0004239 name: Proximally placed carpal bones namespace: medical_genetics is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004240 name: Sclerotic foci within carpal bones namespace: medical_genetics is_a: HP:0009164 ! Abnormal calcification of the carpal bones [Term] id: HP:0004241 name: Stippled calcification in carpal bones namespace: medical_genetics alt_id: HP:0006177 def: "Point-shaped (punctate) calcifications affecting the carpal bones." [HPO:curators] synonym: "Punctate calcifications of carpals" EXACT [] is_a: HP:0009164 ! Abnormal calcification of the carpal bones [Term] id: HP:0004242 name: Wide/broad carpal bones namespace: medical_genetics is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0004243 name: Abnormality of the scaphoid namespace: medical_genetics is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004244 name: Accessory scaphoid namespace: medical_genetics is_a: HP:0004232 ! Accessory carpal bones is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0004245 name: Comma-shaped scaphoid namespace: medical_genetics is_a: HP:0004235 ! Comma-shaped carpal bones is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0004246 name: Delayed maturation/delayed ossification of the scaphoid namespace: medical_genetics is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0004247 name: Small scaphoid namespace: medical_genetics is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0004248 name: Abnormality of the lunate bone namespace: medical_genetics is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004249 name: Accessory lunate namespace: medical_genetics is_a: HP:0004232 ! Accessory carpal bones is_a: HP:0004248 ! Abnormality of the lunate bone [Term] id: HP:0004250 name: Proximally placed lunate namespace: medical_genetics is_a: HP:0004239 ! Proximally placed carpal bones is_a: HP:0004248 ! Abnormality of the lunate bone [Term] id: HP:0004251 name: Lunate-triquetral fusion namespace: medical_genetics is_a: HP:0004248 ! Abnormality of the lunate bone [Term] id: HP:0004252 name: Abnormality of the trapezium namespace: medical_genetics is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004253 name: Absent trapezium/absent ossification of the trapezium namespace: medical_genetics synonym: "Absent trapezium bone" EXACT [] is_a: HP:0004252 ! Abnormality of the trapezium [Term] id: HP:0004254 name: Delayed maturation/delayed ossification of the trapezium namespace: medical_genetics is_a: HP:0004252 ! Abnormality of the trapezium [Term] id: HP:0004255 name: Small trapezium namespace: medical_genetics is_a: HP:0004252 ! Abnormality of the trapezium [Term] id: HP:0004256 name: Abnormality of the trapezoid bone namespace: medical_genetics is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004257 name: Delayed maturation/delayed ossification of the trapezoid bone namespace: medical_genetics is_a: HP:0004256 ! Abnormality of the trapezoid bone [Term] id: HP:0004258 name: Small trapezoid bone namespace: medical_genetics is_a: HP:0004256 ! Abnormality of the trapezoid bone [Term] id: HP:0004259 name: Abnormality of the hamate bone namespace: medical_genetics is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004260 name: Large hamate bone namespace: medical_genetics is_a: HP:0004259 ! Abnormality of the hamate bone [Term] id: HP:0004261 name: Wide/broad hamate bone namespace: medical_genetics is_a: HP:0004259 ! Abnormality of the hamate bone [Term] id: HP:0004262 name: Abnormality of the capitate bone namespace: medical_genetics is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004263 name: Large capitate bone namespace: medical_genetics is_a: HP:0004262 ! Abnormality of the capitate bone [Term] id: HP:0004264 name: Narrow carpal joint spaces namespace: medical_genetics alt_id: HP:0004265 synonym: "Decreased carpal joint angles" EXACT [] is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0004266 name: Abnormality of the small joints of the hand namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0004267 name: Narrow small joints of the hand namespace: medical_genetics is_a: HP:0004266 ! Abnormality of the small joints of the hand [Term] id: HP:0004268 name: Osteoarthritis of the small joints of the hand namespace: medical_genetics is_a: HP:0004266 ! Abnormality of the small joints of the hand [Term] id: HP:0004269 name: Subluxation of the small joints of the hand namespace: medical_genetics is_a: HP:0004266 ! Abnormality of the small joints of the hand [Term] id: HP:0004271 name: Cortical thickening of hand bones namespace: medical_genetics is_a: HP:0005926 ! Abnormalities of the cortex of hand bones [Term] id: HP:0004272 name: Cortical thinning of hand bones namespace: medical_genetics is_a: HP:0005926 ! Abnormalities of the cortex of hand bones [Term] id: HP:0004273 name: Cupped metaphyses of hand bones namespace: medical_genetics is_a: HP:0005923 ! Abnormalities of the metaphyses of the hand [Term] id: HP:0004274 name: Deficient ossification of hand bones namespace: medical_genetics is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004275 name: Duplication of hand bones namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0009142 ! Duplication of bones involving the upper extremities [Term] id: HP:0004276 name: Exostoses of hand bones namespace: medical_genetics def: "Abnormal formation of new bone on the surface of a bone of the hand." [HPO:curators] is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0004277 name: Fractured hand bones namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0004278 name: Synostosis involving bones of the hand namespace: medical_genetics def: "An abnormal union between bones or parts of bones of the hand." [HPO:curators] synonym: "Fused hand bones" RELATED [] is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0004279 name: Hypoplastic hand namespace: medical_genetics is_a: HP:0005927 ! Aplasia/Hypoplasia involving bones of the hand [Term] id: HP:0004280 name: Irregular ossification of hand bones namespace: medical_genetics is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004281 name: Irregular sclerosis of hand bones namespace: medical_genetics is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004283 name: Narrow hand namespace: medical_genetics is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004284 name: Notched hand bones namespace: medical_genetics is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004285 name: Overmodelled hand bones namespace: medical_genetics is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004286 name: Patchy sclerosis of hand bones namespace: medical_genetics is_a: HP:0004281 ! Irregular sclerosis of hand bones [Term] id: HP:0004287 name: Pointed hand bones namespace: medical_genetics is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004288 name: Pseudoepiphyses of hand bones namespace: medical_genetics is_a: HP:0005924 ! Abnormalities of the epiphyses of the hand [Term] id: HP:0004289 name: Sclerotic foci in hand bones namespace: medical_genetics is_a: HP:0004281 ! Irregular sclerosis of hand bones [Term] id: HP:0004290 name: Sclerosis of hand bones with transverse striations namespace: medical_genetics is_a: HP:0004054 ! Sclerosis of hand bones [Term] id: HP:0004291 name: Stippled calcification of hand bones namespace: medical_genetics is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0004292 name: Undermodelled hand bones namespace: medical_genetics is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0004293 name: Fusion of second metacarpal-trapezoid namespace: medical_genetics is_a: HP:0009701 ! Synostosis involving the metacarpal bones is_a: HP:0009702 ! Synostosis involving the carpal bones [Term] id: HP:0004294 name: Subluxation of metacarpal phalangeal joints namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0004295 name: Abnormality of the gastric mucosa namespace: medical_genetics is_a: HP:0002577 ! Abnormality of the stomach created_by: peter creation_date: 2008-02-20T11:12:00Z [Term] id: HP:0004296 name: Abnormality of gastrointestinal vasculature namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs created_by: peter creation_date: 2008-02-20T11:24:00Z [Term] id: HP:0004297 name: Abnormality of the biliary system namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver created_by: peter creation_date: 2008-02-20T11:34:00Z [Term] id: HP:0004298 name: Abnormality of the abdominal wall musculature namespace: medical_genetics is_a: HP:0001438 ! Abdomen abnormality created_by: peter creation_date: 2008-02-20T11:40:00Z [Term] id: HP:0004299 name: Hernia of the abdominal wall namespace: medical_genetics is_a: HP:0004298 ! Abnormality of the abdominal wall musculature created_by: peter creation_date: 2008-02-20T11:42:00Z [Term] id: HP:0004302 name: Functional motor problems. namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature created_by: peter creation_date: 2008-02-20T11:52:00Z [Term] id: HP:0004303 name: Abnormality of muscle fibers namespace: medical_genetics def: "Abnormality of muscle fibers, which are cylindrical and multinucleated cells." [HPO:curators] is_a: HP:0003011 ! Abnormality of musculature created_by: peter creation_date: 2008-02-20T12:04:00Z [Term] id: HP:0004304 name: Transient swelling of muscle induced by percussion namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature created_by: peter creation_date: 2008-02-20T12:17:00Z [Term] id: HP:0004305 name: Involuntary muscle contractions namespace: medical_genetics is_a: HP:0003011 ! Abnormality of musculature created_by: peter creation_date: 2008-02-20T12:18:00Z [Term] id: HP:0004306 name: Abnormality of the endocardium namespace: medical_genetics alt_id: HP:0005260 synonym: "Abnormality of the endomycoardium" EXACT [] is_a: HP:0001627 ! Cardiac abnormality created_by: peter creation_date: 2008-02-20T01:23:00Z [Term] id: HP:0004307 name: Abnormal anatomic location of the heart namespace: medical_genetics is_a: HP:0001627 ! Cardiac abnormality created_by: peter creation_date: 2008-02-20T01:23:00Z [Term] id: HP:0004308 name: Ventricular arrhythmia namespace: medical_genetics is_a: HP:0001665 ! Heart rhythm disorders created_by: peter creation_date: 2008-02-20T01:28:00Z [Term] id: HP:0004309 name: Pre-excitation syndromes namespace: medical_genetics is_a: HP:0001665 ! Heart rhythm disorders created_by: peter creation_date: 2008-02-20T01:29:00Z [Term] id: HP:0004310 name: Abnormality of histiocytes namespace: medical_genetics is_a: HP:0001871 ! Hematological abnormality is_a: HP:0004311 ! Abnormality of macrophages created_by: peter creation_date: 2008-02-20T03:05:00Z [Term] id: HP:0004311 name: Abnormality of macrophages namespace: medical_genetics is_a: HP:0002715 ! Immunological abnormality created_by: peter creation_date: 2008-02-20T03:14:00Z [Term] id: HP:0004312 name: Abnormality of reticulocytes namespace: medical_genetics comment: Reticulocytes are immature red-blood cells. is_a: HP:0001877 ! Abnormality of erythrocytes created_by: peter creation_date: 2008-02-20T03:19:00Z [Term] id: HP:0004313 name: Reduced immunoglobulin levels namespace: medical_genetics synonym: "Decreased serum immunoglobulin" EXACT [] synonym: "Immunoglobulin deficiency" EXACT [] is_a: HP:0002846 ! Abnormality of B-cells created_by: peter creation_date: 2008-02-20T03:34:00Z [Term] id: HP:0004314 name: Increased immunoglobulin levels namespace: medical_genetics synonym: "Elevated immunoglobulin levels" EXACT [] synonym: "Increased gamma globulin" EXACT [] synonym: "Increased levels of globulins" EXACT [] synonym: "Raised immunoglobulin levels" EXACT [] is_a: HP:0002846 ! Abnormality of B-cells created_by: peter creation_date: 2008-02-20T03:42:00Z [Term] id: HP:0004315 name: Decreased IgG namespace: medical_genetics alt_id: HP:0003289 alt_id: HP:0005394 synonym: "Decreased gamma-globin expression" EXACT [] synonym: "Decreased immunoglobulin G" EXACT [] synonym: "Hypogammaglobulinemia" EXACT [] synonym: "IgG deficiency" EXACT [] synonym: "Reduced IgG levels" EXACT [] is_a: HP:0003346 ! Abnormal immunological laboratory finding is_a: HP:0004313 ! Reduced immunoglobulin levels created_by: peter creation_date: 2008-02-20T03:43:00Z [Term] id: HP:0004316 name: Increased cortisol production namespace: medical_genetics is_a: HP:0002717 ! Abnormality of cortisol production created_by: peter creation_date: 2008-02-25T10:44:00Z [Term] id: HP:0004317 name: Decreased cortisol production namespace: medical_genetics is_a: HP:0002717 ! Abnormality of cortisol production created_by: peter creation_date: 2008-02-25T10:44:00Z [Term] id: HP:0004318 name: Increased aldosterone production namespace: medical_genetics is_a: HP:0000859 ! Increased plasma aldosterone created_by: peter creation_date: 2008-02-25T10:45:00Z [Term] id: HP:0004319 name: Decreased aldosterone production namespace: medical_genetics is_a: HP:0002855 ! Abnormality of aldosterone production created_by: peter creation_date: 2008-02-25T10:45:00Z [Term] id: HP:0004320 name: Vaginal fistula namespace: medical_genetics is_a: HP:0000142 ! Abnormalities of the vagina created_by: peter creation_date: 2008-02-25T12:17:00Z [Term] id: HP:0004321 name: Bladder fistula namespace: medical_genetics is_a: HP:0000014 ! Abnormality of the bladder created_by: peter creation_date: 2008-02-25T12:32:00Z [Term] id: HP:0004322 name: Decreased body height namespace: medical_genetics is_a: HP:0000002 ! Abnormality of body height is_a: HP:0001510 ! Growth retardation created_by: peter creation_date: 2008-02-27T03:19:00Z [Term] id: HP:0004323 name: Abnormality of body weight namespace: medical_genetics is_a: HP:0001507 ! Growth abnormality created_by: peter creation_date: 2008-02-27T03:21:00Z [Term] id: HP:0004324 name: Increased body weight namespace: medical_genetics is_a: HP:0004323 ! Abnormality of body weight created_by: peter creation_date: 2008-02-27T03:21:00Z [Term] id: HP:0004325 name: Decreased body weight namespace: medical_genetics synonym: "Decreased weight" EXACT [] is_a: HP:0001510 ! Growth retardation is_a: HP:0004323 ! Abnormality of body weight created_by: peter creation_date: 2008-02-27T03:22:00Z [Term] id: HP:0004326 name: Cachexia namespace: medical_genetics is_a: HP:0004325 ! Decreased body weight created_by: peter creation_date: 2008-02-27T03:23:00Z [Term] id: HP:0004327 name: Abnormality of the vitreous humor namespace: medical_genetics is_a: HP:0004329 ! Abnormality of the posterior segment of the eye created_by: peter creation_date: 2008-02-27T04:20:00Z [Term] id: HP:0004328 name: Abnormality of the anterior segment of the eye namespace: medical_genetics comment: The anterior segment comprises the structures in front of the vitreous humour: the cornea, iris, ciliary body, and lens. is_a: HP:0000478 ! Eye abnormality created_by: peter creation_date: 2008-02-27T04:23:00Z [Term] id: HP:0004329 name: Abnormality of the posterior segment of the eye namespace: medical_genetics comment: The posterior segment comprises the anterior hyaloid membrane and all of the optical structures behind it: the vitreous humor, retina, choroid, and optic nerve. is_a: HP:0000478 ! Eye abnormality created_by: peter creation_date: 2008-02-27T04:25:00Z [Term] id: HP:0004330 name: Increased skull ossification namespace: medical_genetics is_a: HP:0002703 ! Abnormality of skull ossification created_by: peter creation_date: 2008-02-28T11:54:00Z [Term] id: HP:0004331 name: Decreased skull ossification namespace: medical_genetics synonym: "Deficient skull ossification" EXACT [] synonym: "Ossification defect of skull" EXACT [] is_a: HP:0002703 ! Abnormality of skull ossification created_by: peter creation_date: 2008-02-28T11:54:00Z [Term] id: HP:0004332 name: Abnormality of lymphocytes namespace: medical_genetics alt_id: HP:0001887 is_a: HP:0001881 ! Abnormality of leukocytes is_a: HP:0002715 ! Immunological abnormality created_by: peter creation_date: 2008-02-28T06:46:00Z [Term] id: HP:0004333 name: Foam cells on bone marrow biopsy namespace: medical_genetics is_a: HP:0004311 ! Abnormality of macrophages created_by: peter creation_date: 2008-02-28T06:48:00Z [Term] id: HP:0004334 name: Dermal atrophy namespace: medical_genetics alt_id: HP:0000985 alt_id: HP:0001077 def: "Partial or complete wasting (atrophy) of the skin." [HPO:curators] synonym: "Atrophic skin" EXACT [] synonym: "Skin atrophy" EXACT [] is_a: HP:0000951 ! Skin abnormality created_by: peter creation_date: 2008-03-04T06:24:00Z [Term] id: HP:0004335 name: Abnormal formation of myelin sheaths namespace: medical_genetics is_a: HP:0002520 ! Abnormal myelination created_by: peter creation_date: 2008-03-04T06:38:00Z [Term] id: HP:0004336 name: Myelin outfoldings namespace: medical_genetics is_a: HP:0002520 ! Abnormal myelination created_by: peter creation_date: 2008-03-04T06:41:00Z [Term] id: HP:0004337 name: Abnormality of amino acid metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-08T07:53:00Z [Term] id: HP:0004338 name: Abormality of phenylalanine and tyrosine metabolism namespace: medical_genetics is_a: HP:0004337 ! Abnormality of amino acid metabolism created_by: peter creation_date: 2008-03-08T07:55:00Z [Term] id: HP:0004339 name: Abnormality of sulfur-containing amino acids namespace: medical_genetics comment: Cysteine and methionine contain a sulfur atom. is_a: HP:0004337 ! Abnormality of amino acid metabolism created_by: peter creation_date: 2008-03-08T08:01:00Z [Term] id: HP:0004340 name: Abnormality of B-vitamin metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-08T08:08:00Z [Term] id: HP:0004341 name: Abnormality of vitamin B12 metabolism namespace: medical_genetics is_a: HP:0004340 ! Abnormality of B-vitamin metabolism created_by: peter creation_date: 2008-03-08T08:09:00Z [Term] id: HP:0004342 name: Abnormality of galactoside metabolism namespace: medical_genetics is_a: HP:0003649 ! Abnormality of glycoside metabolism created_by: peter creation_date: 2008-03-08T08:33:00Z [Term] id: HP:0004343 name: Abnormality of glycosphingolipid metabolism namespace: medical_genetics comment: Glycosphingolipids are a subtype of glycolipids containing the amino alcohol sphingosine. is_a: HP:0003119 ! Abnormality of lipid metabolism created_by: peter creation_date: 2008-03-08T08:35:00Z [Term] id: HP:0004344 name: Abnormality of cerebrosidase metabolism namespace: medical_genetics is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism created_by: peter creation_date: 2008-03-08T08:36:00Z [Term] id: HP:0004345 name: Abnormality of ganglioside metabolism namespace: medical_genetics comment: A ganglioside is composed of a glycosphingolipid with one or more sialic acids linked on the sugar chain. is_a: HP:0004343 ! Abnormality of glycosphingolipid metabolism created_by: peter creation_date: 2008-03-11T07:50:00Z [Term] id: HP:0004346 name: Increased respiratory rate or depth of breathing namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality created_by: peter creation_date: 2008-03-11T08:00:00Z [Term] id: HP:0004347 name: Abnormal weakness of muscles of respiration namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality created_by: peter creation_date: 2008-03-11T08:03:00Z [Term] id: HP:0004348 name: Abnormality of bone mineral density. namespace: medical_genetics def: "An abnormality of the amount of matter per cubic centimeter of bones, which is usually measured by densitometry of the lumbar spine or hip. The measurements are usually reported as g/cm3 or as a Z-score (the number of standard deviations above or below the mean for the patient's age and sex)." [HPO:curators] is_a: HP:0000924 ! Abnormality of the musculoskeletal system created_by: peter creation_date: 2008-03-11T08:10:00Z [Term] id: HP:0004349 name: Reduced bone mineral density namespace: medical_genetics def: "A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] synonym: "Decreased bone mineral density Z score" EXACT [] is_a: HP:0004348 ! Abnormality of bone mineral density. created_by: peter creation_date: 2008-03-11T08:10:00Z [Term] id: HP:0004350 name: Increased bone mineral density namespace: medical_genetics def: "An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] synonym: "Increased bone density" EXACT [] is_a: HP:0004348 ! Abnormality of bone mineral density. created_by: peter creation_date: 2008-03-11T08:10:00Z [Term] id: HP:0004351 name: Abnormality of cardiac conduction namespace: medical_genetics is_a: HP:0001665 ! Heart rhythm disorders created_by: peter creation_date: 2008-03-14T05:47:00Z [Term] id: HP:0004352 name: Abnormality of purine metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-17T01:04:00Z [Term] id: HP:0004353 name: Abnormality of pyrimidine metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-17T01:05:00Z [Term] id: HP:0004354 name: Abnormality of carboxylic acid metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-17T01:11:00Z [Term] id: HP:0004355 name: Abnormality of proteoglycan metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-17T01:12:00Z [Term] id: HP:0004356 name: Abnormality of lysosomal metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-17T02:40:00Z [Term] id: HP:0004357 name: Abnormality of leucine metabolism namespace: medical_genetics is_a: HP:0004337 ! Abnormality of amino acid metabolism created_by: peter creation_date: 2008-03-17T03:02:00Z [Term] id: HP:0004358 name: Abnormality of superoxide metabolism namespace: medical_genetics comment: NADPH oxidase catalyzes the production of superoxide, which in turn can react to form hydrogen peroxide, HOCl, and hydroxyl radical. Together, these oxygen-derived species participate in bacterial killing. is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-17T03:22:00Z [Term] id: HP:0004359 name: Abnormality of fatty-acid metabolism namespace: medical_genetics is_a: HP:0003119 ! Abnormality of lipid metabolism created_by: peter creation_date: 2008-03-17T03:28:00Z [Term] id: HP:0004360 name: Abnormality of acid-base metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-17T03:35:00Z [Term] id: HP:0004361 name: Abnormal regulation of fat tissue metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-17T03:37:00Z [Term] id: HP:0004362 name: Abnormality of the enteric ganglia namespace: medical_genetics is_a: HP:0002250 ! Abnormality of the large intestine created_by: peter creation_date: 2008-03-17T03:40:00Z [Term] id: HP:0004363 name: Abnormality of calcium metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-17T04:15:00Z [Term] id: HP:0004364 name: Abnormality of ammonia metabolism namespace: medical_genetics comment: Ammonia is a substance containing nitrogen resulting from the catabolism of protein. It is converted to the less toxic substance urea prior to excretion in urine. is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-17T04:51:00Z [Term] id: HP:0004365 name: Abnormality of tryptophan metabolism namespace: medical_genetics is_a: HP:0004337 ! Abnormality of amino acid metabolism created_by: peter creation_date: 2008-03-17T04:55:00Z [Term] id: HP:0004366 name: Abnormality of glycolysis namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-17T05:00:00Z [Term] id: HP:0004367 name: Abnormality of glycoprotein metabolism namespace: medical_genetics comment: This category is meant to contain biochemical abnormalities indicative of abnormal protein sugar modifications. is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-18T08:14:00Z [Term] id: HP:0004368 name: Increased purine levels namespace: medical_genetics is_a: HP:0004352 ! Abnormality of purine metabolism created_by: peter creation_date: 2008-03-18T06:31:00Z [Term] id: HP:0004369 name: Decreased purine levels namespace: medical_genetics is_a: HP:0004352 ! Abnormality of purine metabolism created_by: peter creation_date: 2008-03-18T06:32:00Z [Term] id: HP:0004370 name: Abnormality of temperature regulation namespace: medical_genetics synonym: "Poor temperature regulation" EXACT [] is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-18T06:34:00Z [Term] id: HP:0004371 name: Abnormality of glycosaminoglycan metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-18T06:36:00Z [Term] id: HP:0004372 name: Reduced consciousness/confusion namespace: medical_genetics synonym: "Disturbances of consciousness" EXACT [] synonym: "Lowered consciousness" EXACT [] is_a: HP:0002011 ! Abnormality of the central nervous system created_by: peter creation_date: 2008-03-18T07:12:00Z [Term] id: HP:0004373 name: Focal dystonia namespace: medical_genetics is_a: HP:0001332 ! Dystonia created_by: peter creation_date: 2008-03-18T07:33:00Z [Term] id: HP:0004374 name: Hemiplegia or hemiparesis namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system created_by: peter creation_date: 2008-03-18T07:35:00Z [Term] id: HP:0004375 name: Tumors of the nervous system namespace: medical_genetics is_a: HP:0002664 ! Oncology created_by: peter creation_date: 2008-03-18T07:38:00Z [Term] id: HP:0004376 name: Neuroblastic tumors namespace: medical_genetics comment: Along with neuroblastomas, ganglioneuromas and ganglioneuroblastomas are collectively known as neuroblastic tumors. is_a: HP:0004375 ! Tumors of the nervous system created_by: peter creation_date: 2008-03-18T07:39:00Z [Term] id: HP:0004377 name: Hematological cancer namespace: medical_genetics is_a: HP:0002664 ! Oncology created_by: peter creation_date: 2008-03-18T07:44:00Z [Term] id: HP:0004378 name: Abnormality of the anus namespace: medical_genetics def: "Abnormality of the anus, i.e., the opening at the bottom end of the intestinal tract." [HPO:curators] is_a: HP:0002012 ! Abnormality of gastrointestinal organs created_by: peter creation_date: 2008-03-18T08:11:00Z [Term] id: HP:0004379 name: Abnormality of alkaline phosphatase metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-03-18T08:13:00Z [Term] id: HP:0004380 name: Aortic valve calcification namespace: medical_genetics is_a: HP:0001646 ! Abnormality of the aortic valve is_a: HP:0005146 ! Calcifications of the cardiac valves created_by: peter creation_date: 2008-03-18T08:52:00Z [Term] id: HP:0004381 name: Supravalvular aortic stenosis namespace: medical_genetics is_a: HP:0001650 ! Aortic stenosis created_by: peter creation_date: 2008-03-18T08:54:00Z [Term] id: HP:0004382 name: Mitral valve calcification namespace: medical_genetics is_a: HP:0001633 ! Abnormality of the mitral valve is_a: HP:0005146 ! Calcifications of the cardiac valves created_by: peter creation_date: 2008-03-18T08:55:00Z [Term] id: HP:0004383 name: Hypoplastic left heart namespace: medical_genetics is_a: HP:0001961 ! Hypoplastic heart created_by: peter creation_date: 2008-03-18T08:56:00Z [Term] id: HP:0004384 name: Type 1 truncus arteriosus namespace: medical_genetics is_a: HP:0001660 ! Persistant truncus arteriosus created_by: peter creation_date: 2008-03-18T08:57:00Z [Term] id: HP:0004385 name: Protracted diarrhea namespace: medical_genetics is_a: HP:0002014 ! Diarrhea created_by: peter creation_date: 2008-03-18T09:00:00Z [Term] id: HP:0004386 name: Gastrointestinal inflammatory disorder namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs created_by: peter creation_date: 2008-03-18T09:01:00Z [Term] id: HP:0004387 name: Enterocolitis namespace: medical_genetics is_a: HP:0002037 ! Inflammatory bowel disease created_by: peter creation_date: 2008-03-18T09:02:00Z [Term] id: HP:0004388 name: Microcolon namespace: medical_genetics is_a: HP:0002250 ! Abnormality of the large intestine created_by: peter creation_date: 2008-03-18T09:02:00Z [Term] id: HP:0004389 name: Intestinal pseudo-obstruction namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines created_by: peter creation_date: 2008-03-18T09:03:00Z [Term] id: HP:0004390 name: Hamartomatous polyps namespace: medical_genetics is_a: HP:0005266 ! Intestinal polyps created_by: peter creation_date: 2008-03-18T09:04:00Z [Term] id: HP:0004391 name: Aganglionic megacolon namespace: medical_genetics is_a: HP:0002251 ! Congenital megacolon created_by: peter creation_date: 2008-03-18T09:06:00Z [Term] id: HP:0004392 name: Prune belly namespace: medical_genetics comment: Wrinkly folds of skin covering the abdomen as a result of partial or complete lack of abdominal muscles. is_a: HP:0004298 ! Abnormality of the abdominal wall musculature created_by: peter creation_date: 2008-03-18T09:08:00Z [Term] id: HP:0004393 name: Liver dysfunction namespace: medical_genetics is_a: HP:0001410 ! Decreased liver function created_by: peter creation_date: 2008-03-18T09:10:00Z [Term] id: HP:0004394 name: Multiple gastric polyps namespace: medical_genetics is_a: HP:0002577 ! Abnormality of the stomach created_by: peter creation_date: 2008-03-18T09:11:00Z [Term] id: HP:0004395 name: Malnutrition namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs created_by: peter creation_date: 2008-03-18T09:12:00Z [Term] id: HP:0004396 name: Poor appetite namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs created_by: peter creation_date: 2008-03-18T09:12:00Z [Term] id: HP:0004397 name: Ectopic anus namespace: medical_genetics def: "Abnormal displacement or malposition of the anus." [HPO:curators] is_a: HP:0004378 ! Abnormality of the anus created_by: peter creation_date: 2008-03-18T09:13:00Z [Term] id: HP:0004398 name: Peptic ulcer namespace: medical_genetics is_a: HP:0002592 ! Gastric ulcer created_by: peter creation_date: 2008-03-18T09:14:00Z [Term] id: HP:0004399 name: Congenital pyloric atresia namespace: medical_genetics is_a: HP:0004400 ! Abnormality of the pylorus created_by: peter creation_date: 2008-03-18T09:15:00Z [Term] id: HP:0004400 name: Abnormality of the pylorus namespace: medical_genetics is_a: HP:0002577 ! Abnormality of the stomach created_by: peter creation_date: 2008-03-18T09:15:00Z [Term] id: HP:0004401 name: Meconium ileus namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines created_by: peter creation_date: 2008-03-18T09:16:00Z [Term] id: HP:0004402 name: Meconium ileus in neonates namespace: medical_genetics is_a: HP:0004401 ! Meconium ileus created_by: peter creation_date: 2008-03-18T09:16:00Z [Term] id: HP:0004403 name: Proximal esophageal atresia namespace: medical_genetics is_a: HP:0002032 ! Esophageal atresia created_by: peter creation_date: 2008-03-18T09:17:00Z [Term] id: HP:0004404 name: Abnormality of the nipples namespace: medical_genetics is_a: HP:0000769 ! Abnormality of the breasts created_by: peter creation_date: 2008-03-18T09:18:00Z [Term] id: HP:0004405 name: Prominent nipples namespace: medical_genetics is_a: HP:0004404 ! Abnormality of the nipples created_by: peter creation_date: 2008-03-18T09:19:00Z [Term] id: HP:0004406 name: Spontaneous, recurrent epistaxis namespace: medical_genetics synonym: "Recurrent epistaxes" EXACT [] synonym: "Recurrent epistaxis" EXACT [] is_a: HP:0000421 ! Epistaxis created_by: peter creation_date: 2008-03-18T09:20:00Z [Term] id: HP:0004407 name: Bony paranasal bossing namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology created_by: peter creation_date: 2008-03-18T09:20:00Z [Term] id: HP:0004408 name: Abnormality of the sense of smell namespace: medical_genetics alt_id: HP:0004410 synonym: "Smell defect" EXACT [] is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2008-03-18T09:21:00Z [Term] id: HP:0004409 name: Hyposmia namespace: medical_genetics synonym: "Decreased smell sensation" EXACT [] is_a: HP:0004408 ! Abnormality of the sense of smell created_by: peter creation_date: 2008-03-18T09:21:00Z [Term] id: HP:0004411 name: Deviated nasal septum namespace: medical_genetics is_a: HP:0000419 ! Abnormality of the nasal septum created_by: peter creation_date: 2008-03-18T09:23:00Z [Term] id: HP:0004412 name: Alar clefts namespace: medical_genetics is_a: HP:0000429 ! Abnormality of the nasal alae created_by: peter creation_date: 2008-03-18T09:23:00Z [Term] id: HP:0004414 name: Abnormality of the pulmonary artery namespace: medical_genetics is_a: HP:0004930 ! Abnormality of the pulmonary vasculature created_by: peter creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004415 name: Pulmonary artery stenosis namespace: medical_genetics is_a: HP:0004414 ! Abnormality of the pulmonary artery created_by: peter creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004416 name: Precocious atherosclerosis namespace: medical_genetics synonym: "Premature atherosclerosis" EXACT [] is_a: HP:0002621 ! Atherosclerosis created_by: peter creation_date: 2008-03-18T09:28:00Z [Term] id: HP:0004417 name: Intermittent claudication namespace: medical_genetics comment: Vascular intermittent claudication caused by peripheral arterial disease most often related to severe atherosclerosis. is_a: HP:0002621 ! Atherosclerosis created_by: peter creation_date: 2008-03-18T09:29:00Z [Term] id: HP:0004418 name: Thrombophlebitis namespace: medical_genetics is_a: HP:0002624 ! Venous abnormalities created_by: peter creation_date: 2008-03-18T09:30:00Z [Term] id: HP:0004419 name: Recurrent thrombophlebitis namespace: medical_genetics synonym: "Recurrent phlebitis" EXACT [] synonym: "Recurrent thrombosis" EXACT [] is_a: HP:0004418 ! Thrombophlebitis created_by: peter creation_date: 2008-03-18T09:31:00Z [Term] id: HP:0004420 name: Arterial thrombosis namespace: medical_genetics is_a: HP:0001977 ! Thrombosis created_by: peter creation_date: 2008-03-18T09:32:00Z [Term] id: HP:0004421 name: Elevated systolic blood pressure namespace: medical_genetics is_a: HP:0000822 ! Hypertension created_by: peter creation_date: 2008-03-18T09:33:00Z [Term] id: HP:0004422 name: Biparietal narrowing namespace: medical_genetics def: "A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull)." [HPO:curators] is_a: HP:0002648 ! Abnormality of skull shape created_by: peter creation_date: 2008-03-18T09:35:00Z [Term] id: HP:0004423 name: Cranium bifidum occultum namespace: medical_genetics is_a: HP:0002084 ! Encephalocele created_by: peter creation_date: 2008-03-18T09:37:00Z [Term] id: HP:0004424 name: Micturition difficulties namespace: medical_genetics is_a: HP:0000009 ! Functional abnormality of the bladder created_by: peter creation_date: 2008-03-18T09:39:00Z [Term] id: HP:0004425 name: Flattened forehead namespace: medical_genetics is_a: HP:0000290 ! Abnormality of the forehead created_by: peter creation_date: 2008-03-18T09:41:00Z [Term] id: HP:0004426 name: Abnormality of the cheeks namespace: medical_genetics is_a: HP:0000309 ! Abnormality of the midface created_by: peter creation_date: 2008-03-18T09:42:00Z [Term] id: HP:0004427 name: Chubby cheeks namespace: medical_genetics is_a: HP:0000293 ! Full cheeks created_by: peter creation_date: 2008-03-18T09:42:00Z [Term] id: HP:0004428 name: Elfin facies namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism created_by: peter creation_date: 2008-03-18T09:43:00Z [Term] id: HP:0004429 name: Recurrent viral infections namespace: medical_genetics is_a: HP:0002719 ! Recurrent infections created_by: peter creation_date: 2008-03-18T09:45:00Z [Term] id: HP:0004430 name: Severe combined immunodeficiency namespace: medical_genetics is_a: HP:0002721 ! Immunodeficiency created_by: peter creation_date: 2008-03-18T09:46:00Z [Term] id: HP:0004431 name: Complement deficiency namespace: medical_genetics is_a: HP:0005339 ! Abnormality of complement created_by: peter creation_date: 2008-03-18T09:51:00Z [Term] id: HP:0004432 name: Agammaglobulinemia namespace: medical_genetics is_a: HP:0004315 ! Decreased IgG created_by: peter creation_date: 2008-03-18T09:47:00Z [Term] id: HP:0004433 name: Selective IgA deficiency namespace: medical_genetics is_a: HP:0002720 ! Decreased IgA created_by: peter creation_date: 2008-03-18T09:48:00Z [Term] id: HP:0004434 name: C8 deficiency namespace: medical_genetics is_a: HP:0004431 ! Complement deficiency created_by: peter creation_date: 2008-03-18T09:53:00Z [Term] id: HP:0004435 name: Hypergammaglobulinemia namespace: medical_genetics synonym: "Increased serum gamma globulin" EXACT [] is_a: HP:0002852 ! Hyperglobulinemia created_by: peter creation_date: 2008-03-18T09:54:00Z [Term] id: HP:0004436 name: Elevated IgA namespace: medical_genetics is_a: HP:0002852 ! Hyperglobulinemia created_by: peter creation_date: 2008-03-18T09:54:00Z [Term] id: HP:0004437 name: Cranial hyperostosis namespace: medical_genetics alt_id: HP:0002698 synonym: "Hyperostosis of cranial vault" EXACT [] is_a: HP:0002683 ! Abnormality of the calvaria is_a: HP:0004330 ! Increased skull ossification created_by: peter creation_date: 2008-03-18T09:57:00Z [Term] id: HP:0004438 name: Hyperostosis frontalis interna namespace: medical_genetics is_a: HP:0004437 ! Cranial hyperostosis created_by: peter creation_date: 2008-03-18T09:57:00Z [Term] id: HP:0004439 name: Craniofacial dysostosis namespace: medical_genetics is_a: HP:0000929 ! Abnormality of the skull created_by: peter creation_date: 2008-03-18T09:58:00Z [Term] id: HP:0004440 name: Coronal craniosynostosis namespace: medical_genetics alt_id: HP:0002739 synonym: "Craniosynostosis (coronal)" EXACT [] is_a: HP:0001363 ! Craniosynostosis created_by: peter creation_date: 2008-03-18T09:59:00Z [Term] id: HP:0004441 name: Craniosynostosis, coronal and lambdoidal namespace: medical_genetics alt_id: HP:0002675 synonym: "Craniosynostosis (lambdoid and coronal sutures)" EXACT [] is_a: HP:0004440 ! Coronal craniosynostosis is_a: HP:0004443 ! Lambdoidal craniosynostosis created_by: peter creation_date: 2008-03-18T10:00:00Z [Term] id: HP:0004442 name: Sagittal craniosynostosis namespace: medical_genetics synonym: "Craniosynostosis, sagittal" EXACT [] synonym: "Craniosynostosis, sagittal suture" EXACT [] is_a: HP:0001363 ! Craniosynostosis created_by: peter creation_date: 2008-03-18T10:01:00Z [Term] id: HP:0004443 name: Lambdoidal craniosynostosis namespace: medical_genetics synonym: "Lambdoid craniosynostosis" EXACT [] is_a: HP:0001363 ! Craniosynostosis created_by: peter creation_date: 2008-03-18T10:01:00Z [Term] id: HP:0004444 name: Spherocytosis namespace: medical_genetics is_a: HP:0004447 ! Poikilocytosis created_by: peter creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004445 name: Elliptocytosis namespace: medical_genetics synonym: "Hereditary elliptocytosis" EXACT [] is_a: HP:0004447 ! Poikilocytosis created_by: peter creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004446 name: Stomatocytosis namespace: medical_genetics alt_id: HP:0004801 synonym: "erythrocyte stomatocytes" EXACT [] synonym: "Red cell stomatocytosis" EXACT [] is_a: HP:0004447 ! Poikilocytosis created_by: peter creation_date: 2008-03-18T10:05:00Z [Term] id: HP:0004447 name: Poikilocytosis namespace: medical_genetics comment: General description for abnormally shaped erythrocytes. is_a: HP:0001877 ! Abnormality of erythrocytes created_by: peter creation_date: 2008-03-18T10:06:00Z [Term] id: HP:0004448 name: Fulminant hepatic failure namespace: medical_genetics def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as fulminant if there is onset of encephalopathy within 4 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] is_a: HP:0006554 ! Acute hepatic failure created_by: peter creation_date: 2008-03-18T10:09:00Z [Term] id: HP:0004449 name: prominent ear lobules namespace: medical_genetics is_a: HP:0000382 ! Large, prominent ears [Term] id: HP:0004450 name: preauricular skin furrows namespace: medical_genetics is_a: HP:0000384 ! Preauricular skin tag [Term] id: HP:0004451 name: pre- and post-auricular skin or cartilaginous tags namespace: medical_genetics is_a: HP:0000384 ! Preauricular skin tag [Term] id: HP:0004452 name: abnormal middle ear ossicles namespace: medical_genetics is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0004453 name: overfolding of the superior helices namespace: medical_genetics synonym: "Overfolding of superior helix" EXACT [] synonym: "Reduced anterior-posterior diameter of vertebral bodies" EXACT [] is_a: HP:0000396 ! Overfolded helices [Term] id: HP:0004454 name: abnormal middle ear reflexes namespace: medical_genetics is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0004455 name: congenital, slowly progressive perceptive deafness namespace: medical_genetics is_a: HP:0004691 ! 2-3 toe syndactyly [Term] id: HP:0004456 name: Prominent ear lobes namespace: medical_genetics synonym: "Vertebral cleft" EXACT [] synonym: "Vertebral clefting" EXACT [] is_a: HP:0000363 ! Abnormality of ear lobes [Term] id: HP:0004457 name: congenital non-progressive, non-syndromic sensorineural hearing loss namespace: medical_genetics is_a: HP:0004668 ! triangular facies later in life [Term] id: HP:0004458 name: bulbous internal auditory canal namespace: medical_genetics is_a: HP:0000372 ! Auditory canal abnormality [Term] id: HP:0004459 name: External auditory canal exostoses namespace: medical_genetics is_a: HP:0000372 ! Auditory canal abnormality [Term] id: HP:0004461 name: Congenital earlobe sinuses namespace: medical_genetics synonym: "Posterior wedging" EXACT [] is_a: HP:0000363 ! Abnormality of ear lobes [Term] id: HP:0004462 name: abnormal or absent auditory nerve and brainstem responses namespace: medical_genetics synonym: "Absent or decreased auditory brainstem responses" EXACT [] is_a: HP:0006958 ! Abnormal auditory evoked potentials [Term] id: HP:0004463 name: absent brainstem auditory responses namespace: medical_genetics synonym: "No auditory brainstem response" EXACT [] is_a: HP:0006958 ! Abnormal auditory evoked potentials [Term] id: HP:0004464 name: posterior auricular pit namespace: medical_genetics synonym: "Posterior auricular sinus" EXACT [] is_a: HP:0000383 ! Abnormality of periauricular region [Term] id: HP:0004465 name: Malformation of auricle namespace: medical_genetics is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0004466 name: prolonged brainstem auditory evoked potentials namespace: medical_genetics is_a: HP:0006958 ! Abnormal auditory evoked potentials [Term] id: HP:0004467 name: preauricular sinus namespace: medical_genetics alt_id: HP:0004460 comment: The preauricular sinus is variably also termed a preauricular pit, preauricular fistula, preauricular tract and preauricular cyst. is_a: HP:0000383 ! Abnormality of periauricular region [Term] id: HP:0004468 name: Anomalous tracheal cartilage namespace: medical_genetics is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0004469 name: Chronic bronchitis namespace: medical_genetics is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0004470 name: occipital cephalocele, atretic namespace: medical_genetics is_a: HP:0002085 ! Occipital encephalocele [Term] id: HP:0004471 name: aplasia cutis congenita over the scalp vertex namespace: medical_genetics synonym: "Aplasia cutis congenita of vertex" EXACT [] is_a: HP:0001057 ! Aplasia cutis congenita [Term] id: HP:0004472 name: hyperostoses of calvaria, facial bones, and mandible namespace: medical_genetics is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0004473 name: large, late-closing fontanelle namespace: medical_genetics def: "An enlargement of the fontanelles and delay of their closure relative to age-dependent norms." [HPO:curators] is_a: HP:0000239 ! Large fontanelles [Term] id: HP:0004474 name: Persistent open anterior fontanelle namespace: medical_genetics alt_id: HP:0004483 def: "The anterior fontanelle generally ossifies by around the 18th month of life. A persistant open anterior fontanelle is diagnosed if closure is delayed beyond this age." [HPO:curators] synonym: "Persistent, open anterior fontanel" EXACT [] is_a: HP:0001476 ! Delayed closure of the anterior fontanelle [Term] id: HP:0004475 name: Anterior fontanelle open in adults namespace: medical_genetics def: "The anterior fontanelle generally closes by the 18th month of life. This term is diagnosed if the anterior fontanelle is unossified in an adult." [HPO:curators] is_a: HP:0001476 ! Delayed closure of the anterior fontanelle [Term] id: HP:0004476 name: aplasia cutis congenita over parietal area namespace: medical_genetics is_a: HP:0001057 ! Aplasia cutis congenita [Term] id: HP:0004477 name: occasional clover-leaf skull namespace: medical_genetics is_a: HP:0002676 ! Cloverleaf skull [Term] id: HP:0004478 name: ethmoidal encephalocele namespace: medical_genetics is_a: HP:0002084 ! Encephalocele [Term] id: HP:0004479 name: Occasional brachycephaly namespace: medical_genetics is_a: HP:0000248 ! Brachycephaly [Term] id: HP:0004480 name: Receding or small forehead namespace: medical_genetics is_a: HP:0000350 ! Small forehead is_a: HP:0000351 ! Receding forehead [Term] id: HP:0004481 name: Macrocephaly, progressive namespace: medical_genetics alt_id: HP:0000261 synonym: "Progressive macrocephaly" EXACT [] is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004482 name: Macrocephaly, relative namespace: medical_genetics alt_id: HP:0000257 alt_id: HP:0001364 synonym: "Disproportionately large head" EXACT [] synonym: "Relative macrocephaly" EXACT [] synonym: "Relatively large head" EXACT [] is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004484 name: craniofacial asymmetry namespace: medical_genetics is_a: HP:0000267 ! Cranial asymmetry is_a: HP:0000324 ! Facial asymmetry [Term] id: HP:0004485 name: cessation of head growth in affected infants namespace: medical_genetics is_a: HP:0000241 ! Deceleration of head growth [Term] id: HP:0004486 name: primary coronal and lambdoid craniosynostosis namespace: medical_genetics is_a: HP:0004443 ! Lambdoidal craniosynostosis [Term] id: HP:0004487 name: Acrobrachycephaly namespace: medical_genetics def: "An abnormality of head shape characterized by the presence of a short, wide head as well as a pointy or conical form of the top of the head owing to premature closure of the coronal and lambdoid sutures." [HPO:curators] is_a: HP:0000248 ! Brachycephaly [Term] id: HP:0004488 name: Macrocephaly at birth namespace: medical_genetics is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0004489 name: Frontal and occipital prominence namespace: medical_genetics is_a: HP:0002007 ! Frontal prominence [Term] id: HP:0004490 name: Calvarial hyperostosis namespace: medical_genetics is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0004491 name: large posterior fontanelle namespace: medical_genetics def: "An enlargement of the posterior fontanelle relative to age-dependent norms." [HPO:curators] synonym: "Large posterior fontanel" EXACT [] is_a: HP:0000239 ! Large fontanelles [Term] id: HP:0004492 name: Widely patent fontanels and sutures namespace: medical_genetics alt_id: HP:0002646 alt_id: HP:0005492 synonym: "Open cranial sutures" EXACT [] synonym: "Persistent wide fontanel" EXACT [] synonym: "Wide cranial sutures" EXACT [] synonym: "Widened cranial sutures" EXACT [] is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0004493 name: Craniofacial hyperostosis namespace: medical_genetics is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0004494 name: unilateral craniosynostosis namespace: medical_genetics is_a: HP:0001363 ! Craniosynostosis [Term] id: HP:0004495 name: thin anteverted nares namespace: medical_genetics is_a: HP:0000463 ! Anteverted nostrils [Term] id: HP:0004496 name: Posterior choanal atresia namespace: medical_genetics def: "Absence or abnormal closure of the posterior portion of the choana (the posterior nasal aperture)." [HPO:curators] is_a: HP:0000453 ! Choanal atresia [Term] id: HP:0004497 name: hypoplastic nostrils namespace: medical_genetics alt_id: HP:0005276 synonym: "Hypoplastic nares" EXACT [] is_a: HP:0000440 ! Hypoplastic nose [Term] id: HP:0004498 name: prominent, broad nasal bridge namespace: medical_genetics is_a: HP:0000426 ! Prominent nasal bridge is_a: HP:0000431 ! Broad nasal bridge [Term] id: HP:0004499 name: chronic rhinitis due to narrow nasal airway namespace: medical_genetics is_a: HP:0002257 ! Chronic rhinitis [Term] id: HP:0004500 name: Broad and high nasal bridge namespace: medical_genetics def: "Increased horizontal and vertical dimensions of the upper, bony part of the nose." [HPO:curators] is_a: HP:0000431 ! Broad nasal bridge is_a: HP:0000442 ! High nasal bridge [Term] id: HP:0004501 name: broad upturned nasal tip namespace: medical_genetics synonym: "Broad, upturned nose" EXACT [] is_a: HP:0000435 ! Upturned nasal tip is_a: HP:0000455 ! Broad nasal tip [Term] id: HP:0004502 name: Bilateral choanal atresia/stenosis namespace: medical_genetics def: "Bilateral absence (atresia) or abnormal narrowing (stenosis) of the choana (the posterior nasal aperture)." [HPO:curators] is_a: HP:0000416 ! Choanal atresia or stenosis [Term] id: HP:0004504 name: high, broad nasal root namespace: medical_genetics is_a: HP:0000424 ! Broad nasal root [Term] id: HP:0004506 name: small nose with low nasal bridge namespace: medical_genetics is_a: HP:0000428 ! Low nasal bridge [Term] id: HP:0004507 name: hypoplastic nares and septum namespace: medical_genetics is_a: HP:0000430 ! Hypoplastic nasal alae is_a: HP:0005104 ! Hypoplastic nasal septum [Term] id: HP:0004508 name: pancreatic insufficiency in 80% namespace: medical_genetics is_a: HP:0002581 ! Pancreatic insufficiency [Term] id: HP:0004509 name: subclinical defect in pancreatic exocrine function namespace: medical_genetics is_a: HP:0001738 ! Exocrine pancreatic insufficiency [Term] id: HP:0004510 name: Islets of Langerhans hyperplasia namespace: medical_genetics synonym: "Hyperplastic islets of langerhans" EXACT [] synonym: "Islets of langerhans hypertrophy" EXACT [] is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0004511 name: increased risk of pancreatic cancer namespace: medical_genetics is_a: HP:0002894 ! Pancreatic cancer [Term] id: HP:0004512 name: pancreatitis, acute in some namespace: medical_genetics is_a: HP:0001735 ! Pancreatitis, acute [Term] id: HP:0004514 name: sparse scalp, axillary, and pubic hair namespace: medical_genetics is_a: HP:0002215 ! Sparse axillary hair [Term] id: HP:0004515 name: generalized trichodysplasia namespace: medical_genetics is_a: HP:0002552 ! Trichodysplasia [Term] id: HP:0004516 name: absent/abnormal eyelashes and eyebrows namespace: medical_genetics is_a: HP:0002288 ! Absent eyebrows and eyelashes [Term] id: HP:0004517 name: Hypertrichosis, congenital anterior cervical namespace: medical_genetics def: "Excessive, abnormal hairiness in the anterior cervical (neck) region present at birth." [HPO:curators] is_a: HP:0004535 ! Anterior cervical hypertrichosis is_a: HP:0004773 ! Congenital cervical hypertrichosis [Term] id: HP:0004518 name: sparse axillary and pubic hair namespace: medical_genetics is_a: HP:0002215 ! Sparse axillary hair [Term] id: HP:0004519 name: little or no eyebrows, eyelashes or body hair namespace: medical_genetics is_a: HP:0002222 ! Sparse eyebrows and eyelashes [Term] id: HP:0004520 name: loss of eyebrows and eyelashes namespace: medical_genetics is_a: HP:0002222 ! Sparse eyebrows and eyelashes [Term] id: HP:0004522 name: sparse hair, eyebrows and eyelashes namespace: medical_genetics is_a: HP:0002222 ! Sparse eyebrows and eyelashes [Term] id: HP:0004523 name: very long eyelashes and eyebrows namespace: medical_genetics is_a: HP:0000527 ! Long eyelashes [Term] id: HP:0004524 name: Temporal hypotrichosis namespace: medical_genetics def: "Reduced or lacking hair growth in the temporal region (i.e., around the temples on the side of the skull)." [HPO:curators] is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004525 name: Congenital hypotrichosis namespace: medical_genetics def: "Congenital lack of hair growth." [HPO:curators] is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004527 name: large clumps of pigment irregularly distributed along hair shaft namespace: medical_genetics is_a: HP:0002220 ! Melanin pigment aggregation in hair shafts [Term] id: HP:0004528 name: Generalized hypotrichosis namespace: medical_genetics alt_id: HP:0004513 def: "Reduced or lacking hair growth in a generalized distribution." [HPO:curators] synonym: "Hypotrichosis, generalized" EXACT [] is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004529 name: atrophic, patchy alopecia namespace: medical_genetics is_a: HP:0002232 ! Patchy alopecia [Term] id: HP:0004530 name: loss of eyebrows, eyelashes and beard namespace: medical_genetics is_a: HP:0002288 ! Absent eyebrows and eyelashes [Term] id: HP:0004531 name: sparse eyebrows, eyelashes, and beard namespace: medical_genetics is_a: HP:0002222 ! Sparse eyebrows and eyelashes [Term] id: HP:0004532 name: Sacral, lumbar, or thoracic localized hypertrichosis namespace: medical_genetics def: "Excessive, abnormal hairiness located in the sacral, lumbar or thoracic regions." [HPO:curators] is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004533 name: thick, arched eyebrows namespace: medical_genetics synonym: "Broad, arched eyebrows" EXACT [] synonym: "Thick, flared eyebrows" EXACT [] is_a: HP:0002553 ! Arched eyebrows [Term] id: HP:0004534 name: dry, sparse scalp hair namespace: medical_genetics is_a: HP:0002209 ! Sparse scalp hair [Term] id: HP:0004535 name: Anterior cervical hypertrichosis namespace: medical_genetics def: "Excessive, abnormal hairiness in the anterior cervical (neck) region." [HPO:curators] is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004536 name: white eyebrows and eyelashes namespace: medical_genetics is_a: HP:0002226 ! White eyebrows [Term] id: HP:0004537 name: absent pubic and facial hair namespace: medical_genetics is_a: HP:0002550 ! Absent facial hair [Term] id: HP:0004538 name: fine, sparse, light-colored hair namespace: medical_genetics is_a: HP:0002286 ! Light colored hair [Term] id: HP:0004539 name: loss of eyebrows and eyelashes by age 3 years namespace: medical_genetics is_a: HP:0002288 ! Absent eyebrows and eyelashes [Term] id: HP:0004540 name: Congenital, generalized hypertrichosis namespace: medical_genetics alt_id: HP:0004547 alt_id: HP:0004769 def: "A confluent, generalized overgrowth of silvery blonde to gray lanugo hair at birth (Hypertrichosis refers to excessive, abnormal hairiness)." [HPO:curators] synonym: "Congenital generalized hypertrichosis" EXACT [] synonym: "Hypertrichosis universalis" EXACT [] is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004541 name: fragile, thin, and sparse scalp hair namespace: medical_genetics is_a: HP:0002233 ! Sparse, thin scalp hair [Term] id: HP:0004542 name: blonde, sparse scalp hair namespace: medical_genetics is_a: HP:0002209 ! Sparse scalp hair [Term] id: HP:0004543 name: Persistent generalized hypertrichosis, esp face, ears, and shoulders namespace: medical_genetics def: "Persistent and generalized excessive, abnormal hairiness affecting especially the face, ears, and shoulders." [HPO:curators] is_a: HP:0004554 ! Generalized hypertrichosis [Term] id: HP:0004544 name: pointed frontal hairline namespace: medical_genetics is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0004545 name: sparse to absent axillary hair namespace: medical_genetics is_a: HP:0002215 ! Sparse axillary hair [Term] id: HP:0004546 name: broad, bushy eyebrows namespace: medical_genetics synonym: "Broad bushy eyebrows" EXACT [] is_a: HP:0000574 ! Thick eyebrows [Term] id: HP:0004548 name: absent hair, eyebrows and eyelashes namespace: medical_genetics is_a: HP:0002288 ! Absent eyebrows and eyelashes [Term] id: HP:0004549 name: absent facial, axillary, body hair namespace: medical_genetics is_a: HP:0002550 ! Absent facial hair [Term] id: HP:0004550 name: alopecia, complete, in majority of patients namespace: medical_genetics is_a: HP:0002289 ! Alopecia, complete [Term] id: HP:0004551 name: arched, sparse eyebrows namespace: medical_genetics is_a: HP:0000535 ! Sparse eyebrows [Term] id: HP:0004552 name: scarring alopecia of scalp namespace: medical_genetics is_a: HP:0002293 ! Alopecia of scalp [Term] id: HP:0004553 name: thin, slow-growing scalp hair namespace: medical_genetics is_a: HP:0002217 ! Slow-growing hair [Term] id: HP:0004554 name: Generalized hypertrichosis namespace: medical_genetics def: "Generalized excessive, abnormal hairiness." [HPO:curators] is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004555 name: absent or scanty eyelashes and eyebrows namespace: medical_genetics is_a: HP:0002284 ! Sparse to absent eyelashes [Term] id: HP:0004556 name: absent pubic and axillary hair namespace: medical_genetics is_a: HP:0002221 ! Absent axillary hair [Term] id: HP:0004557 name: Anterior vertebral fusion namespace: medical_genetics is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0004558 name: cervical platyspondyly namespace: medical_genetics is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004559 name: flat oval-shaped vertebral bodies namespace: medical_genetics is_a: HP:0003300 ! Ovoid vertebral bodies [Term] id: HP:0004560 name: mild lumbar lordosis namespace: medical_genetics is_a: HP:0002941 ! Increased lumbar lordosis [Term] id: HP:0004562 name: beaking of vertebral bodies t12-l3 namespace: medical_genetics is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0004563 name: increased spinal bone density namespace: medical_genetics def: "Increased bone density affecting the bones of the spine (vertebral column)." [HPO:curators] synonym: "increased spinal bone density Z" RELATED [] is_a: HP:0004350 ! Increased bone mineral density [Term] id: HP:0004565 name: severe platyspondyly namespace: medical_genetics alt_id: HP:0004564 synonym: "platyspondyly, extreme" EXACT [] is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004566 name: Pear-shaped vertebrae namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004567 name: scoliosis, thoracolumbar, severe, progressive namespace: medical_genetics is_a: HP:0002944 ! Thoracolumbar scoliosis [Term] id: HP:0004568 name: Beaking of vertebral bodies namespace: medical_genetics alt_id: HP:0003315 synonym: "Beaked vertebral bodies" EXACT [] synonym: "Wedged vertebrae" EXACT [] is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004569 name: flattening and anterior beaking of vertebral bodies namespace: medical_genetics is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0004570 name: Increased vertebral height namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004571 name: widening of cervical spinal canal namespace: medical_genetics synonym: "Multiple congenital contractures" EXACT [] is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0004573 name: wedge-shaped 11th or 12th thoracic vertebrae namespace: medical_genetics is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0004574 name: variable lumbar lordosis namespace: medical_genetics is_a: HP:0002938 ! Lumbar hyperlordosis [Term] id: HP:0004575 name: fusion of midcervical facet joints namespace: medical_genetics is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004576 name: Sclerotic vertebral endplates namespace: medical_genetics synonym: "Large joint contractures" EXACT [] is_a: HP:0005106 ! Abnormality of the vertebral endplates [Term] id: HP:0004577 name: anterior flattening and/or beaking of vertebrae namespace: medical_genetics is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0004578 name: Mild vertebral body sclerosis namespace: medical_genetics is_a: HP:0003468 ! Abnormalities of the vertebrae [Term] id: HP:0004580 name: Anterior scalloping of vertebral bodies namespace: medical_genetics def: "An excessive concavity of the anterior surface of one or more vertebral bodies." [HPO:curators] synonym: "Anterior scalloping vertebral bodies" RELATED [] is_a: HP:0004620 ! Scalloping of vertebral bodies [Term] id: HP:0004581 name: Increased anterior vertebral height namespace: medical_genetics is_a: HP:0004570 ! Increased vertebral height [Term] id: HP:0004582 name: Mild irregularity of vertebral bodies namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004583 name: mild irregularity of vertebral endplates namespace: medical_genetics is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0004585 name: mild thoracolumbar scoliosis namespace: medical_genetics is_a: HP:0002944 ! Thoracolumbar scoliosis [Term] id: HP:0004586 name: Biconcave vertebral bodies namespace: medical_genetics alt_id: HP:0004561 synonym: "biconcave vertebrae" EXACT [] is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004587 name: abnormal cervical vertebrae namespace: medical_genetics is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0004588 name: lumbar platyspondyly, mild namespace: medical_genetics is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004589 name: Dysplasia of second lumbar vertebra namespace: medical_genetics is_a: HP:0003468 ! Abnormalities of the vertebrae [Term] id: HP:0004590 name: Hypoplastic sacrum namespace: medical_genetics is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum [Term] id: HP:0004591 name: Disc-like vertebral bodies namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004592 name: thoracic platyspondyly namespace: medical_genetics is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004593 name: severe, progressive kyphoscoliosis namespace: medical_genetics is_a: HP:0003424 ! Progressive kyphoscoliosis [Term] id: HP:0004594 name: hump-shaped mound of bone in central and posterior portions of vertebral endplate namespace: medical_genetics is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0004595 name: platyspondyly with anterior wedging namespace: medical_genetics is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004596 name: exaggerated lumbar lordosis during childhood and adulthood namespace: medical_genetics is_a: HP:0002941 ! Increased lumbar lordosis [Term] id: HP:0004597 name: congenital spinal stenosis due to short pedicles, especially lumbar namespace: medical_genetics is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0004598 name: platyspondyly with multiple extra ossification centers namespace: medical_genetics is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004599 name: Absent or minimally ossified vertebral bodies namespace: medical_genetics is_a: HP:0003468 ! Abnormalities of the vertebrae [Term] id: HP:0004600 name: Abnormal odontoid peg namespace: medical_genetics is_a: HP:0003310 ! Abnormality of the odontoid process [Term] id: HP:0004601 name: spina bifida occulta at l5 or s1 namespace: medical_genetics is_a: HP:0003298 ! Spina bifida occulta [Term] id: HP:0004602 name: cervical vertebral fusion, c2-c3 namespace: medical_genetics def: "Fusion of cervical vertebrae, most common of the vertebrae C2 and C3, caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development, leading to a short neck with a low hairline at the back of the head, and restricted mobility of the upper spine." [HPO:curators] synonym: "Klippel-Feil syndrome" EXACT [] is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004603 name: Hyperconvex vertebral body endplates namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004604 name: midthoracic hemivertebrae namespace: medical_genetics is_a: HP:0004464 ! posterior auricular pit [Term] id: HP:0004605 name: Absent vertebral body mineralization namespace: medical_genetics is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies [Term] id: HP:0004606 name: Unossified vertebral bodies namespace: medical_genetics alt_id: HP:0008427 synonym: "Vertebral bodies often unossified" EXACT [] is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies [Term] id: HP:0004607 name: anterior beaking of lower thoracic and lumbar vertebrae namespace: medical_genetics is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0004608 name: Anteriorly placed odontoid process namespace: medical_genetics is_a: HP:0003310 ! Abnormality of the odontoid process [Term] id: HP:0004609 name: Patchy distortion of vertebrae namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004610 name: narrow lumbar spinal canal namespace: medical_genetics is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0004611 name: Anterior concavity of thoracic vertebrae namespace: medical_genetics synonym: "Anteriorly concave vertebrae" EXACT [] is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004612 name: cervical spine segmentation defects namespace: medical_genetics is_a: HP:0003422 ! Vertebral segmentation defects [Term] id: HP:0004613 name: Small odontoid process namespace: medical_genetics is_a: HP:0003311 ! Hypoplastic odontoid process [Term] id: HP:0004614 name: spina bifida occulta at s1 namespace: medical_genetics is_a: HP:0003298 ! Spina bifida occulta [Term] id: HP:0004615 name: mild thoracic scoliosis namespace: medical_genetics is_a: HP:0002943 ! Thoracic scoliosis [Term] id: HP:0004616 name: cleft vertebral arches namespace: medical_genetics is_a: HP:0004467 ! preauricular sinus [Term] id: HP:0004617 name: butterfly vertebral arch namespace: medical_genetics is_a: HP:0004467 ! preauricular sinus [Term] id: HP:0004618 name: Sandwich appearance of vertebral bodies namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004619 name: lumbar kyphoscoliosis namespace: medical_genetics is_a: HP:0002751 ! Kyphoscoliosis [Term] id: HP:0004620 name: Scalloping of vertebral bodies namespace: medical_genetics def: "Scalloping of vertebral bodies is characterized by exaggerated concavity of the posterior surface, which may result from different causes. The word scalloping refers to the radiating fluted pattern of the shell of the scallop." [HPO:curators] is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004621 name: Large, flattened vertebrae with large pedicles namespace: medical_genetics is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0004622 name: progressive intervertebral space narrowing namespace: medical_genetics is_a: HP:0002945 ! Narrow intervertebral spaces [Term] id: HP:0004625 name: Biconvex vertebral bodies namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004626 name: Lumbar scoliosis namespace: medical_genetics is_a: HP:0002650 ! Scoliosis [Term] id: HP:0004628 name: progressive endplate irregularity namespace: medical_genetics is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0004629 name: small cervical vertebral bodies namespace: medical_genetics is_a: HP:0002773 ! Small vertebral bodies [Term] id: HP:0004630 name: anterior beaking of thoracic and lumbar vertebrae namespace: medical_genetics is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0004631 name: Decreased cervical spine flexion due to contractures of posterior cervical muscles namespace: medical_genetics synonym: "Contracture of post-cervical muscles" EXACT [] is_a: HP:0001371 ! Contractures [Term] id: HP:0004632 name: cervical segmentation defects namespace: medical_genetics is_a: HP:0003422 ! Vertebral segmentation defects [Term] id: HP:0004633 name: lower thoracic kyphosis namespace: medical_genetics is_a: HP:0002942 ! Thoracic kyphosis [Term] id: HP:0004634 name: Cuboid-shaped vertebral bodies namespace: medical_genetics synonym: "Cuboid vertebral bodies" EXACT [] is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0004635 name: cervical vertebrae fusion, usually at c5 to c6 namespace: medical_genetics is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004636 name: fusion of cervical vertebrae, most often c2-3 namespace: medical_genetics is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0004637 name: decreased cervical spine mobility namespace: medical_genetics is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0004638 name: Oligohydramnios in some cases namespace: medical_genetics is_a: HP:0001562 ! Oligohydramnios [Term] id: HP:0004639 name: Elevated amniotic fluid alpha-fetoprotein namespace: medical_genetics is_a: HP:0006254 ! Elevated alpha-fetoprotein [Term] id: HP:0004640 name: coarse facial features over time namespace: medical_genetics is_a: HP:0000280 ! Coarse facial features [Term] id: HP:0004641 name: frontal and biparietal bossing namespace: medical_genetics is_a: HP:0000242 ! Parietal bossing [Term] id: HP:0004642 name: mild malar hypoplasia namespace: medical_genetics is_a: HP:0000272 ! Malar hypoplasia [Term] id: HP:0004644 name: mild maxillary hypoplasia namespace: medical_genetics is_a: HP:0000327 ! Maxillary hypoplasia [Term] id: HP:0004645 name: triangular face with age namespace: medical_genetics is_a: HP:0000325 ! Triangular facies [Term] id: HP:0004646 name: nasal bone hypoplasia namespace: medical_genetics synonym: "Hearing loss, profound congenital" EXACT [] is_a: HP:0003196 ! Nasal hypoplasia [Term] id: HP:0004647 name: Long, myopathic facies namespace: medical_genetics is_a: HP:0002058 ! Myopathic facies [Term] id: HP:0004648 name: prominent chin with central dimple namespace: medical_genetics is_a: HP:0000328 ! Prominent chin [Term] id: HP:0004650 name: Broad nasal root and tip namespace: medical_genetics is_a: HP:0000424 ! Broad nasal root [Term] id: HP:0004651 name: Facial myokymia, mild namespace: medical_genetics def: "Mild facial myokymia, that is, mild fine fibrillary activity of the facial muscles." [HPO:curators] is_a: HP:0000317 ! Facial myokymia [Term] id: HP:0004652 name: mild facial dysmorphism may occur namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0004654 name: prominent, long philtrum namespace: medical_genetics is_a: HP:0000305 ! Prominent philtrum [Term] id: HP:0004655 name: facial dysmorphism may occur namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0004656 name: mild mandibular prognathism namespace: medical_genetics synonym: "Narrowed external ear canal" EXACT [] is_a: HP:0000303 ! Mandibular prognathism [Term] id: HP:0004658 name: normal/mild midface hypoplasia namespace: medical_genetics is_a: HP:0000272 ! Malar hypoplasia [Term] id: HP:0004659 name: Wide, flat, broad forehead namespace: medical_genetics is_a: HP:0000337 ! Broad forehead [Term] id: HP:0004660 name: hypoplasia of facial musculature namespace: medical_genetics is_a: HP:0000301 ! Abnormality of facial musculature [Term] id: HP:0004661 name: Frontalis muscle weakness namespace: medical_genetics def: "Reduced strength of the frontalis muscle (which is located on the forehead)." [HPO:curators] synonym: "Weak frontalis muscle" EXACT [] is_a: HP:0002517 ! Facial palsy [Term] id: HP:0004662 name: small, triangular facies namespace: medical_genetics is_a: HP:0000325 ! Triangular facies [Term] id: HP:0004663 name: long, broad, and smooth philtrum namespace: medical_genetics is_a: HP:0000299 ! Long, smooth philtrum [Term] id: HP:0004664 name: facial midline hemangioma namespace: medical_genetics def: "Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the midline region of the face." [HPO:curators] is_a: HP:0000329 ! Facial hemangioma [Term] id: HP:0004665 name: everted prominent lower lip namespace: medical_genetics is_a: HP:0000179 ! Prominent lower lip [Term] id: HP:0004666 name: Broad and depressed nasal bridge namespace: medical_genetics alt_id: HP:0004413 alt_id: HP:0004505 alt_id: HP:0005119 synonym: "Broad, low nasal bridge" EXACT [] synonym: "Deep, broad nasal bridge" EXACT [] is_a: HP:0000428 ! Low nasal bridge is_a: HP:0000431 ! Broad nasal bridge [Term] id: HP:0004668 name: triangular facies later in life namespace: medical_genetics is_a: HP:0000325 ! Triangular facies [Term] id: HP:0004670 name: Facial muscle weakness, mild-to-moderate namespace: medical_genetics is_a: HP:0002517 ! Facial palsy [Term] id: HP:0004671 name: midface hypoplasia, mild namespace: medical_genetics is_a: HP:0000272 ! Malar hypoplasia [Term] id: HP:0004673 name: Decreased facial expression namespace: medical_genetics is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0004674 name: high, narrow forehead namespace: medical_genetics synonym: "Hearing loss, high frequency, slowly progressive" EXACT [] is_a: HP:0000341 ! Narrow forehead [Term] id: HP:0004675 name: minor facial dysmorphism namespace: medical_genetics is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0004676 name: prominent supraorbital arches in adult namespace: medical_genetics is_a: HP:0000336 ! Prominent supraorbital ridges [Term] id: HP:0004677 name: steep, narrow forehead namespace: medical_genetics is_a: HP:0000341 ! Narrow forehead [Term] id: HP:0004678 name: partial duplication of hallux namespace: medical_genetics is_a: HP:0009607 ! Preaxial hallucal polydactyly [Term] id: HP:0004679 name: Large tarsal bones namespace: medical_genetics is_a: HP:0001850 ! Abnormalities of the tarsal bones [Term] id: HP:0004680 name: short first metatarsal namespace: medical_genetics synonym: "First metatarsal hypoplasia" EXACT [] synonym: "First metatarsals hypoplastic" EXACT [] is_a: HP:0001779 ! Shortened metatarsals [Term] id: HP:0004681 name: Longitudinal groove on soles namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0004682 name: Lateral deviation of halluces namespace: medical_genetics synonym: "Lateral deviation of great toe" EXACT [] is_a: HP:0001844 ! Abnormalities of the big toes [Term] id: HP:0004684 name: ankle valgus deformity namespace: medical_genetics is_a: HP:0001848 ! Calcaneovalgus deformities [Term] id: HP:0004685 name: partial cutaneous 2-3 toe syndactyly namespace: medical_genetics is_a: HP:0004691 ! 2-3 toe syndactyly [Term] id: HP:0004686 name: short third, fourth, fifth metatarsals namespace: medical_genetics is_a: HP:0001779 ! Shortened metatarsals [Term] id: HP:0004687 name: hallucal symphalangism namespace: medical_genetics is_a: HP:0001859 ! Distal symphalangism (feet) [Term] id: HP:0004688 name: Irregular tarsal bones namespace: medical_genetics is_a: HP:0001850 ! Abnormalities of the tarsal bones [Term] id: HP:0004689 name: short fourth metatarsals namespace: medical_genetics synonym: "Bilateral fourth metatarsal shortening" EXACT [] synonym: "Short fourth metatarsus" EXACT [] is_a: HP:0001779 ! Shortened metatarsals [Term] id: HP:0004690 name: Thickened Achilles tendon namespace: medical_genetics is_a: HP:0005109 ! Abnormality of the Achilles tendon [Term] id: HP:0004691 name: 2-3 toe syndactyly namespace: medical_genetics alt_id: HP:0001846 alt_id: HP:0001856 alt_id: HP:0003773 synonym: "2-3 toes syndactyly" EXACT [] synonym: "Syndactyly (2-3) (feet)" EXACT [] synonym: "Syndactyly of second and third toes" EXACT [] is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0004692 name: 4th-5th toe syndactyly namespace: medical_genetics is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0004693 name: congenital vertical talus, bilateral namespace: medical_genetics synonym: "Congenital vertical talus" EXACT [] is_a: HP:0001838 ! Vertical talus [Term] id: HP:0004695 name: calcaneal epiphyseal stippling namespace: medical_genetics is_a: HP:0002658 ! Stippled epiphyses [Term] id: HP:0004696 name: talipes cavus equinovarus namespace: medical_genetics is_a: HP:0001762 ! Talipes equinovarus [Term] id: HP:0004697 name: partial or complete syndactyly 2nd-3rd toes namespace: medical_genetics is_a: HP:0004691 ! 2-3 toe syndactyly [Term] id: HP:0004698 name: postaxial polydactyly fingers/toes namespace: medical_genetics synonym: "Poor feeding in neonatal period" EXACT [] is_a: HP:0001162 ! Postaxial polydactyly [Term] id: HP:0004699 name: Osteoporotic metatarsal namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones [Term] id: HP:0004700 name: short, broad laterally deviated halluces namespace: medical_genetics is_a: HP:0001861 ! Short, broad halluces [Term] id: HP:0004701 name: Hypoplastic toes namespace: medical_genetics is_a: HP:0001991 ! Aplasia/Hypoplasia of the toes [Term] id: HP:0004702 name: variable shortening 4th-5th metatarsals namespace: medical_genetics is_a: HP:0003092 ! Variable short metatarsals [Term] id: HP:0004703 name: 2-3 or 4-5 toe syndactyly namespace: medical_genetics is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0004704 name: short 4th and 5th metatarsals namespace: medical_genetics is_a: HP:0001779 ! Shortened metatarsals [Term] id: HP:0004706 name: mild shortening of metatarsals namespace: medical_genetics synonym: "Recurring pancreatitis" EXACT [] is_a: HP:0001779 ! Shortened metatarsals [Term] id: HP:0004707 name: soft tissue syndactyly of toes namespace: medical_genetics is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0004708 name: syndactyly of 3rd - 4th toes namespace: medical_genetics is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0004709 name: broad first metatarsal namespace: medical_genetics is_a: HP:0001783 ! Broad metatarsals [Term] id: HP:0004710 name: medially deviated, broad great toes namespace: medical_genetics synonym: "Multiple intestinal polyps" EXACT [] is_a: HP:0003094 ! Broad great toes [Term] id: HP:0004711 name: Shortening of the achilles tendon namespace: medical_genetics is_a: HP:0001771 ! Achilles tendon contractures [Term] id: HP:0004712 name: Malrotation of the kidney namespace: medical_genetics alt_id: HP:0004730 synonym: "Abnormal rotation of the kidneys" EXACT [] is_a: HP:0000077 ! Abnormality of the kidneys is_a: HP:0000079 ! Abnormality of the urinary tract [Term] id: HP:0004713 name: renal failure, reversible namespace: medical_genetics is_a: HP:0000083 ! Renal failure [Term] id: HP:0004714 name: renal biopsy shows tubulointerstitial fibrosis namespace: medical_genetics is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0004716 name: enlarged polycystic kidneys namespace: medical_genetics is_a: HP:0000113 ! Polycystic kidney [Term] id: HP:0004717 name: Axial malrotation of the kidney namespace: medical_genetics is_a: HP:0004712 ! Malrotation of the kidney [Term] id: HP:0004718 name: nephrotic syndrome, progressing to endstage kidney disease namespace: medical_genetics is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0004719 name: enlarged, hyperechogenic kidneys namespace: medical_genetics is_a: HP:0000105 ! Enlarged kidneys [Term] id: HP:0004720 name: end-stage renal disease develops in childhood namespace: medical_genetics is_a: HP:0003774 ! End stage renal disease [Term] id: HP:0004721 name: renal dysplasia/aplasia namespace: medical_genetics synonym: "Renal adysplasia" EXACT [] is_a: HP:0000110 ! Renal dysplasia [Term] id: HP:0004722 name: Thickening of the glomerular basement membrane on renal biopsy namespace: medical_genetics is_a: HP:0000095 ! Morphological abnormalities of the glomeruli [Term] id: HP:0004723 name: a subset of patients develop renal insufficiency with decreased creatinine clearance namespace: medical_genetics is_a: HP:0000120 ! Reduced creatinine clearance [Term] id: HP:0004724 name: calcium nephrolithiasis namespace: medical_genetics is_a: HP:0000787 ! Kidney stones [Term] id: HP:0004725 name: chronic/endstage renal failure namespace: medical_genetics is_a: HP:0000101 ! Chronic renal failure [Term] id: HP:0004727 name: impaired renal concentrating ability namespace: medical_genetics is_a: HP:0000087 ! Impaired renal function [Term] id: HP:0004728 name: diffuse mesangial sclerosis glomerulopathy namespace: medical_genetics is_a: HP:0001967 ! Diffuse mesangial sclerosis [Term] id: HP:0004729 name: nephritis, acute tubulointerstitial namespace: medical_genetics is_a: HP:0001970 ! Tubulointerstitial nephritis [Term] id: HP:0004732 name: impaired renal uric acid clearance namespace: medical_genetics is_a: HP:0000087 ! Impaired renal function [Term] id: HP:0004733 name: early-onset end-stage renal disease namespace: medical_genetics is_a: HP:0003774 ! End stage renal disease [Term] id: HP:0004734 name: renal cortical microcysts namespace: medical_genetics synonym: "Cortical microcysts" EXACT [] synonym: "Multiple renal cortical microcysts" EXACT [] is_a: HP:0000803 ! Renal cortical cysts [Term] id: HP:0004735 name: Structural anomalies of the renal tract namespace: medical_genetics is_a: HP:0000079 ! Abnormality of the urinary tract [Term] id: HP:0004736 name: ectopic kidney with fusion namespace: medical_genetics is_a: HP:0000086 ! Ectopic kidney [Term] id: HP:0004737 name: global glomerulosclerosis namespace: medical_genetics is_a: HP:0000096 ! Glomerulosclerosis [Term] id: HP:0004738 name: progression to end stage renal failure in late adulthood namespace: medical_genetics is_a: HP:0000106 ! Progressive renal insufficiency [Term] id: HP:0004739 name: polycystic kidney dysplasia namespace: medical_genetics is_a: HP:0000113 ! Polycystic kidney [Term] id: HP:0004740 name: adult onset polycystic kidney namespace: medical_genetics is_a: HP:0000113 ! Polycystic kidney [Term] id: HP:0004741 name: hypoplastic/dysplastic kidney namespace: medical_genetics is_a: HP:0000089 ! Renal hypoplasia [Term] id: HP:0004742 name: Abnormality of the renal collecting system namespace: medical_genetics alt_id: HP:0004731 synonym: "Abnormal collecting system" EXACT [] synonym: "Renal collecting system anomalies" EXACT [] is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0004743 name: chronic tubulointerstitial nephritis namespace: medical_genetics is_a: HP:0001970 ! Tubulointerstitial nephritis [Term] id: HP:0004744 name: renal agenesis/hypoplasia namespace: medical_genetics is_a: HP:0000104 ! Renal agenesis [Term] id: HP:0004745 name: ipsilateral renal agenesis namespace: medical_genetics is_a: HP:0000104 ! Renal agenesis [Term] id: HP:0004746 name: membranoproliferative glomerulonephritis type ii namespace: medical_genetics synonym: "Severe fat maldigestion" EXACT [] is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0004747 name: focal glomerulosclerosis namespace: medical_genetics is_a: HP:0000096 ! Glomerulosclerosis [Term] id: HP:0004748 name: juvenile nephronophthisis namespace: medical_genetics is_a: HP:0000090 ! Nephronophthisis [Term] id: HP:0004749 name: Atrial fibrillation or flutter namespace: medical_genetics is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0004751 name: Paroxysmal ventricular tachycardia namespace: medical_genetics is_a: HP:0004756 ! Ventricular tachycardia [Term] id: HP:0004752 name: atrioventricular dissociation, congenital namespace: medical_genetics is_a: HP:0004525 ! Congenital hypotrichosis [Term] id: HP:0004754 name: paroxysmal or chronic atrial fibrillation namespace: medical_genetics is_a: HP:0004757 ! paroxysmal atrial fibrillation [Term] id: HP:0004755 name: Supraventricular tachyarrhythmias namespace: medical_genetics is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0004756 name: Ventricular tachycardia namespace: medical_genetics is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0004757 name: paroxysmal atrial fibrillation namespace: medical_genetics is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0004758 name: Effort-induced polymorphic ventricular tachycardias namespace: medical_genetics is_a: HP:0004756 ! Ventricular tachycardia [Term] id: HP:0004759 name: nodular calcific aortic valve disease namespace: medical_genetics is_a: HP:0004484 ! craniofacial asymmetry [Term] id: HP:0004760 name: Congenital septal defect namespace: medical_genetics synonym: "Congenital septal defects" EXACT [] is_a: HP:0001671 ! Abnormality of the cardiac septa [Term] id: HP:0004761 name: Post-angioplasty coronary artery restenosis namespace: medical_genetics is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0004762 name: Hypoplasia of right ventricle namespace: medical_genetics alt_id: HP:0004951 is_a: HP:0001707 ! Right ventricular abnormality [Term] id: HP:0004763 name: Paroxysmal supraventricular tachycardia namespace: medical_genetics is_a: HP:0004755 ! Supraventricular tachyarrhythmias [Term] id: HP:0004764 name: Myxomatous mitral valve degeneration namespace: medical_genetics is_a: HP:0001633 ! Abnormality of the mitral valve [Term] id: HP:0004765 name: Episodic supraventricular tachycardia namespace: medical_genetics is_a: HP:0004755 ! Supraventricular tachyarrhythmias [Term] id: HP:0004766 name: Generalized hypertrichosis, back, shoulders, and face namespace: medical_genetics is_a: HP:0004554 ! Generalized hypertrichosis [Term] id: HP:0004767 name: fine, brittle, slow-growing hair namespace: medical_genetics is_a: HP:0002217 ! Slow-growing hair [Term] id: HP:0004768 name: sparse anterior scalp hair namespace: medical_genetics is_a: HP:0002233 ! Sparse, thin scalp hair [Term] id: HP:0004770 name: sparse, slow-growing hair namespace: medical_genetics is_a: HP:0002217 ! Slow-growing hair [Term] id: HP:0004771 name: premature graying of body hair namespace: medical_genetics is_a: HP:0002216 ! Premature graying of hair [Term] id: HP:0004772 name: short, thin, sparse, pale scalp hair namespace: medical_genetics is_a: HP:0002233 ! Sparse, thin scalp hair [Term] id: HP:0004773 name: Congenital cervical hypertrichosis namespace: medical_genetics def: "Excessive, abnormal hairiness in the cervical (neck) region present at birth." [HPO:curators] is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004774 name: dry, thin scalp hair namespace: medical_genetics is_a: HP:0002556 ! Thin scalp hair [Term] id: HP:0004775 name: sparse-absent scalp hair namespace: medical_genetics is_a: HP:0002209 ! Sparse scalp hair [Term] id: HP:0004776 name: sparse, thin, brittle scalp hair namespace: medical_genetics is_a: HP:0002233 ! Sparse, thin scalp hair [Term] id: HP:0004777 name: short, sparse eyelashes namespace: medical_genetics is_a: HP:0000653 ! Sparse eyelashes [Term] id: HP:0004778 name: sparse to absent pubic hair namespace: medical_genetics is_a: HP:0002555 ! Absent pubic hair [Term] id: HP:0004779 name: sparse, brittle scalp hair namespace: medical_genetics is_a: HP:0002233 ! Sparse, thin scalp hair [Term] id: HP:0004780 name: Hypertrichosis limited to elbows namespace: medical_genetics def: "Excessive, abnormal hairiness limited to the elbow region." [HPO:curators] synonym: "'primary' pulmonary hypertension" EXACT [] is_a: HP:0000998 ! Hypertrichosis [Term] id: HP:0004781 name: fine, slow-growing hair namespace: medical_genetics is_a: HP:0002217 ! Slow-growing hair [Term] id: HP:0004782 name: Hypotrichosis of the scalp namespace: medical_genetics alt_id: HP:0004526 def: "Reduced or lacking hair growth of the scalp." [HPO:curators] synonym: "Hypotrichosis on scalp" EXACT [] synonym: "Scalp hypotrichosis" EXACT [] is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004783 name: multiple duodenal polyps namespace: medical_genetics is_a: HP:0004710 ! medially deviated, broad great toes [Term] id: HP:0004784 name: juvenile gastrointestinal polyposis namespace: medical_genetics synonym: "Respiratory difficulties in infancy" EXACT [] is_a: HP:0004710 ! medially deviated, broad great toes [Term] id: HP:0004785 name: Malrotation of colon namespace: medical_genetics is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0004786 name: jejunal diverticula namespace: medical_genetics synonym: "Chronic respiratory disease" EXACT [] is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004787 name: Fulminant hepatitis namespace: medical_genetics is_a: HP:0004448 ! Fulminant hepatic failure [Term] id: HP:0004788 name: intestinal lymphedema namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0004789 name: Lactose intolerance namespace: medical_genetics is_a: HP:0002024 ! Malabsorption [Term] id: HP:0004790 name: small intestine hypoplastic namespace: medical_genetics is_a: HP:0002244 ! Abnormality of the small intestine [Term] id: HP:0004791 name: Esophageal ulceration namespace: medical_genetics is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0004792 name: rectoperineal fistula namespace: medical_genetics is_a: HP:0002034 ! Abnormality of the rectum [Term] id: HP:0004793 name: Gastrointestinal reflux namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0004794 name: Malrotation of small bowel namespace: medical_genetics is_a: HP:0002244 ! Abnormality of the small intestine is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0004795 name: hamartomatous stomach polyps namespace: medical_genetics is_a: HP:0004390 ! Hamartomatous polyps [Term] id: HP:0004796 name: Gastrointestinal obstruction namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0004797 name: multiple small bowel atresias namespace: medical_genetics is_a: HP:0004749 ! Atrial fibrillation or flutter [Term] id: HP:0004798 name: Gastrointestinal infections namespace: medical_genetics synonym: "Recurrent gastrointestinal infections" EXACT [] is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0004799 name: jejunoileal diverticula namespace: medical_genetics is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004800 name: duodenal diverticula namespace: medical_genetics is_a: HP:0002256 ! Small bowel diverticula [Term] id: HP:0004802 name: episodic hemolytic anemia namespace: medical_genetics synonym: "Episodic hemolysis" EXACT [] is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004803 name: Acute lymphoblastic leukemia namespace: medical_genetics is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004804 name: congenital hemolytic anemia namespace: medical_genetics synonym: "Occasional mild odontoid hypoplasia" EXACT [] is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004805 name: hereditary pyropoikilocytosis namespace: medical_genetics is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0004806 name: chronic immune thrombocytopenia namespace: medical_genetics synonym: "Abnormal auditory brainstem responses" EXACT [] synonym: "Abnormal brain auditory evoked responses" EXACT [] synonym: "Abnormal brainstem auditory evoked potentials" EXACT [] is_a: HP:0001973 ! Immune thrombocytopenia [Term] id: HP:0004807 name: thrombasthenia namespace: medical_genetics is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0004808 name: Acute myeloid leukemia namespace: medical_genetics is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004809 name: neonatal alloimmune thrombocytopenia namespace: medical_genetics is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004810 name: congenital hypoplastic anemia namespace: medical_genetics is_a: HP:0001908 ! Hypoplastic anemia [Term] id: HP:0004811 name: neonatal hemolytic anemia namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004812 name: Human pre-B-cell acute lymphoblastic leukemia namespace: medical_genetics is_a: HP:0004803 ! Acute lymphoblastic leukemia [Term] id: HP:0004813 name: post-transfusion thrombocytopenia namespace: medical_genetics is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004814 name: hemolytic anemia following ingestion of fava beans namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004815 name: hemolytic anemia, chronic namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004816 name: japanese type hereditary spherocytosis namespace: medical_genetics is_a: HP:0004444 ! Spherocytosis [Term] id: HP:0004817 name: drug-sensitive hemolytic anemias namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004818 name: paroxysmal nocturnal hemoglobinuria namespace: medical_genetics is_a: HP:0003641 ! Hemoglobinuria [Term] id: HP:0004819 name: normocytic hypoplastic anemia namespace: medical_genetics is_a: HP:0001908 ! Hypoplastic anemia [Term] id: HP:0004820 name: Acute myelomonocytic leukemia namespace: medical_genetics is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004821 name: Hypersegmentation of neutrophil nuclei namespace: medical_genetics is_a: HP:0001874 ! Abnormality of neutrophil [Term] id: HP:0004822 name: atypical elliptocytosis namespace: medical_genetics is_a: HP:0004445 ! Elliptocytosis [Term] id: HP:0004823 name: anisopoikilocytosis namespace: medical_genetics is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0004824 name: congenital nonspherocytic hemolytic anemia namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004825 name: increased oxygen affinity and compensated hemolytic anemia namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004826 name: megaloblastic anemia unresponsive to vitamin b12 and folate namespace: medical_genetics is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004827 name: poikilocytic hemolytic anemia namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004828 name: myelodysplasia with sideroblastosis namespace: medical_genetics is_a: HP:0002863 ! Myelodysplasia [Term] id: HP:0004829 name: idiopathic thrombocytopenic purpura namespace: medical_genetics is_a: HP:0001936 ! Idiopathic thrombocytopenia [Term] id: HP:0004830 name: neonatal bleeding tendency namespace: medical_genetics is_a: HP:0001892 ! Bleeding diathesis [Term] id: HP:0004831 name: recurrent thromboembolic disease namespace: medical_genetics is_a: HP:0001907 ! Thromboembolism [Term] id: HP:0004832 name: hypoplastic myelodysplasia namespace: medical_genetics is_a: HP:0002863 ! Myelodysplasia [Term] id: HP:0004833 name: Acute monoblastic leukemia namespace: medical_genetics is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004834 name: congenital bleeding diathesis namespace: medical_genetics synonym: "Congenital hemorrhagic diathesis" EXACT [] is_a: HP:0001892 ! Bleeding diathesis [Term] id: HP:0004835 name: microspherocytosis namespace: medical_genetics is_a: HP:0004444 ! Spherocytosis [Term] id: HP:0004836 name: Acute promyelocytic leukemia namespace: medical_genetics is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004837 name: hemolytic anemia with elliptocytosis namespace: medical_genetics is_a: HP:0004445 ! Elliptocytosis [Term] id: HP:0004838 name: severe thrombocytopenia namespace: medical_genetics is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004839 name: pyropoikilocytosis namespace: medical_genetics is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0004840 name: hypochromic, microcytic anemia namespace: medical_genetics is_a: HP:0001935 ! Microcytic anemia [Term] id: HP:0004841 name: Factor XII deficiency namespace: medical_genetics alt_id: HP:0005551 synonym: "Hageman factor deficiency" EXACT [] is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0004842 name: mild hypochromic microcytic anemia namespace: medical_genetics is_a: HP:0001935 ! Microcytic anemia [Term] id: HP:0004843 name: Familial acute myelogenous leukemia namespace: medical_genetics is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004844 name: coombs-positive hemolytic anemia namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004845 name: Acute monocytic leukemia namespace: medical_genetics is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0004846 name: severe protracted bleeding after surgery namespace: medical_genetics synonym: "Excessive bleeding during surgery" EXACT [] is_a: HP:0001934 ! Persistent bleeding after trauma [Term] id: HP:0004847 name: extramedullary erythropoiesis namespace: medical_genetics is_a: HP:0001978 ! Extramedullary hematopoiesis [Term] id: HP:0004848 name: Ph-positive acute lymphoblastic leukemia namespace: medical_genetics is_a: HP:0004803 ! Acute lymphoblastic leukemia [Term] id: HP:0004849 name: mild-to-moderate bleeding tendencies namespace: medical_genetics is_a: HP:0001892 ! Bleeding diathesis [Term] id: HP:0004850 name: recurrent deep vein thrombosis namespace: medical_genetics synonym: "Recurrent venous thrombosis" EXACT [] is_a: HP:0002625 ! Deep venous thrombosis [Term] id: HP:0004851 name: folate-responsive megaloblastic anemia namespace: medical_genetics is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004852 name: low leukocyte alkaline phosphatase namespace: medical_genetics is_a: HP:0003282 ! Low alkaline phosphatase [Term] id: HP:0004853 name: lethal congenital nonspherocytic, nonimmune hemolytic anemia namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004854 name: intermittent thrombocytopenia namespace: medical_genetics is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004855 name: protein S deficiency namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0004856 name: normochromic microcytic anemia namespace: medical_genetics is_a: HP:0001935 ! Microcytic anemia [Term] id: HP:0004857 name: hyperchromic macrocytic anemia namespace: medical_genetics is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0004858 name: megaloblastic anemia, chronic, relapsing namespace: medical_genetics is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004859 name: amegakaryocytic thrombocytopenia namespace: medical_genetics is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004860 name: megaloblastic anemia responsive only to thiamine namespace: medical_genetics is_a: HP:0001889 ! Megaloblastic anemia [Term] id: HP:0004861 name: refractory macrocytic anemia namespace: medical_genetics is_a: HP:0001972 ! Macrocytic anemia [Term] id: HP:0004862 name: moderate-severe bleeding tendencies namespace: medical_genetics is_a: HP:0001892 ! Bleeding diathesis [Term] id: HP:0004863 name: compensated hemolytic anemia namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004864 name: refractory sideroblastic anemia namespace: medical_genetics is_a: HP:0001924 ! Sideroblastic anemia [Term] id: HP:0004865 name: moderate bleeding diathesis namespace: medical_genetics is_a: HP:0001892 ! Bleeding diathesis [Term] id: HP:0004866 name: platelets show impaired aggregation in response to adp namespace: medical_genetics is_a: HP:0003540 ! Abnormal platelet aggregation [Term] id: HP:0004867 name: Williams factor deficiency namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0004868 name: severe hemolytic anemia namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004869 name: thrombocytopenia, congenital namespace: medical_genetics is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0004870 name: chronic hemolytic anemia namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0004871 name: Perineal fistula namespace: medical_genetics def: "The presence of a fistula (abnormal tunnel) between the bowel and the perineum (diamond-shaped region of the body between the pubic arch and the anus)." [HPO:curators] is_a: HP:0001462 ! Abnormality of external features of the abdomen [Term] id: HP:0004872 name: Recurrent or incisional hernia namespace: medical_genetics is_a: HP:0004299 ! Hernia of the abdominal wall [Term] id: HP:0004873 name: Lax abdominal musculature namespace: medical_genetics is_a: HP:0004298 ! Abnormality of the abdominal wall musculature [Term] id: HP:0004874 name: Hypotrichosis, infantile namespace: medical_genetics def: "Lack of hair growth with onset in infancy." [HPO:curators] is_a: HP:0001006 ! Hypotrichosis [Term] id: HP:0004875 name: neonatal inspiratory stridor namespace: medical_genetics is_a: HP:0002643 ! Neonatal respiratory distress is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0004876 name: spontaneous neonatal pneumothorax namespace: medical_genetics synonym: "Neonatal pneumothorax" EXACT [] is_a: HP:0002108 ! Spontaneous pneumothorax [Term] id: HP:0004877 name: respiratory failure in infancy namespace: medical_genetics is_a: HP:0004784 ! juvenile gastrointestinal polyposis [Term] id: HP:0004878 name: Respiratory failure due to intercostal muscle and diaphragm involvement namespace: medical_genetics is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004879 name: intermittent hyperventilation namespace: medical_genetics is_a: HP:0002883 ! Hyperventilation [Term] id: HP:0004880 name: Respiratory infections in early life namespace: medical_genetics is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0004881 name: hypoventilation, episodic namespace: medical_genetics is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0004882 name: respiratory distress due to muscle weakness, often fatal namespace: medical_genetics is_a: HP:0002747 ! Respiratory insufficiency due to muscle weakness [Term] id: HP:0004884 name: Recurrent chest infections namespace: medical_genetics is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0004885 name: respiratory distress, episodic namespace: medical_genetics is_a: HP:0002098 ! Respiratory distress [Term] id: HP:0004886 name: congenital laryngeal stridor namespace: medical_genetics is_a: HP:0004474 ! Persistent open anterior fontanelle [Term] id: HP:0004887 name: Respiratory failure requiring assisted ventilation namespace: medical_genetics alt_id: HP:0004883 synonym: "Respiratory failure often resulting in ventilator dependency" EXACT [] is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004888 name: respiratory failure due to muscle weakness may occur in late stages namespace: medical_genetics is_a: HP:0002747 ! Respiratory insufficiency due to muscle weakness [Term] id: HP:0004889 name: intermittent episodes of respiratory insufficiency due to muscle weakness namespace: medical_genetics is_a: HP:0002747 ! Respiratory insufficiency due to muscle weakness [Term] id: HP:0004890 name: elevated pulmonary artery pressure namespace: medical_genetics is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004891 name: Recurrent infections due to aspiration namespace: medical_genetics is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0004892 name: alveolar hypoventilation namespace: medical_genetics is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0004893 name: progressive respiratory failure namespace: medical_genetics synonym: "Progressive breathing difficulty" EXACT [] is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0004894 name: laryngotracheal stenosis namespace: medical_genetics is_a: HP:0002777 ! Tracheal stenosis [Term] id: HP:0004895 name: mild metabolic acidosis namespace: medical_genetics is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0004897 name: lactic acidosis may occur with stress or infection namespace: medical_genetics is_a: HP:0003255 ! Lactic acidosis [Term] id: HP:0004898 name: persistent lactic acidosis namespace: medical_genetics is_a: HP:0003255 ! Lactic acidosis [Term] id: HP:0004899 name: chronic adult lactic acidosis namespace: medical_genetics is_a: HP:0003255 ! Lactic acidosis [Term] id: HP:0004900 name: lactic acidosis, severe namespace: medical_genetics is_a: HP:0003255 ! Lactic acidosis [Term] id: HP:0004901 name: exercise lactic acidemia namespace: medical_genetics is_a: HP:0003128 ! Lactic acidemia [Term] id: HP:0004902 name: congenital lactic acidosis namespace: medical_genetics is_a: HP:0003255 ! Lactic acidosis [Term] id: HP:0004903 name: Fever, episodic, severe namespace: medical_genetics def: "Periodic (episodic or recurrent) bouts of severe fever that do not have an infectious cause." [HPO:curators] is_a: HP:0001954 ! Fever, episodic [Term] id: HP:0004904 name: Insulin-dependent maturity-onset diabetes of the young namespace: medical_genetics synonym: "Maturity-onset diabetes of the young" EXACT [] is_a: HP:0000831 ! Insulin-resistant diabetes mellitus [Term] id: HP:0004905 name: Vitamin A deficiency namespace: medical_genetics is_a: HP:0008372 ! Abnormality of vitamin A metabolism [Term] id: HP:0004906 name: hypernatremic dehydration namespace: medical_genetics is_a: HP:0001986 ! Hypertonic dehydration [Term] id: HP:0004907 name: metabolic acidosis, severe namespace: medical_genetics is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0004908 name: Mild diabetes mellitus namespace: medical_genetics is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0004909 name: hypokalemic hypochloremic metabolic alkalosis namespace: medical_genetics is_a: HP:0001960 ! Hypokalemic metabolic alkalosis [Term] id: HP:0004910 name: bicarbonate-wasting renal tubular acidosis namespace: medical_genetics synonym: "Renal bicarbonate wasting" EXACT [] is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0004911 name: metabolic acidosis, episodic namespace: medical_genetics is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0004912 name: hypophosphatemic rickets namespace: medical_genetics is_a: HP:0002148 ! Hypophosphatemia [Term] id: HP:0004913 name: intermittent lactic acidemia namespace: medical_genetics is_a: HP:0003128 ! Lactic acidemia [Term] id: HP:0004914 name: recurrent infantile hypoglycemia namespace: medical_genetics is_a: HP:0001998 ! Neonatal hypoglycemia [Term] id: HP:0004915 name: impaired galactose metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0004916 name: generalized distal tubular acidosis namespace: medical_genetics is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0004917 name: hypoglycemia, episodic, in infants namespace: medical_genetics is_a: HP:0001988 ! Recurrent hypoglycemic episodes [Term] id: HP:0004918 name: hyperchloremic metabolic acidosis namespace: medical_genetics is_a: HP:0001995 ! Hyperchloremic acidosis [Term] id: HP:0004919 name: Galactose intolerance namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0004920 name: Phenylpyruvic acidemia namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0004921 name: abnormal magnesium metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0004922 name: atypical hyperphenylalaninemia namespace: medical_genetics is_a: HP:0004338 ! Abormality of phenylalanine and tyrosine metabolism [Term] id: HP:0004923 name: hyperphenylalaninemia namespace: medical_genetics is_a: HP:0004338 ! Abormality of phenylalanine and tyrosine metabolism [Term] id: HP:0004924 name: abnormal oral glucose tolerance namespace: medical_genetics synonym: "Abnormal glucose oral tolerance test" EXACT [] is_a: HP:0001952 ! Abnormal glucose tolerance [Term] id: HP:0004925 name: lactic acidosis, chronic namespace: medical_genetics is_a: HP:0003255 ! Lactic acidosis [Term] id: HP:0004926 name: Orthostatic hypotension due to autonomic dysfunction namespace: medical_genetics is_a: HP:0001278 ! Orthostatic hypotension [Term] id: HP:0004927 name: pulmonary artery dilatation namespace: medical_genetics is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004928 name: Peripheral arterial stenosis namespace: medical_genetics synonym: "Arterial stenosis" EXACT [] is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0004929 name: Coronary atherosclerosis namespace: medical_genetics def: "Coronary artery disease, also called atherosclerotic heart disease, is the result of atheromatous plaques within the coronary arteries leading to myocardial ischemia and infarction." [HPO:curators] synonym: "Coronary artherosclerosis" EXACT [] is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0004930 name: Abnormality of the pulmonary vasculature namespace: medical_genetics is_a: HP:0002597 ! Abnormality of the vasculature created_by: peter creation_date: 2008-03-26T04:07:00Z [Term] id: HP:0004931 name: small cerebral arteries show arteriosclerotic changes namespace: medical_genetics is_a: HP:0002634 ! Arteriosclerosis [Term] id: HP:0004932 name: Orthostatic hypotension, severe, recurrent namespace: medical_genetics is_a: HP:0001278 ! Orthostatic hypotension [Term] id: HP:0004933 name: ascending aortic dissection namespace: medical_genetics is_a: HP:0002647 ! Aortic dissection [Term] id: HP:0004934 name: Vascular calcifications namespace: medical_genetics is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0004935 name: pulmonary artery atresia namespace: medical_genetics synonym: "Pulmonary atresia" EXACT [] is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004936 name: Venous thrombosis namespace: medical_genetics is_a: HP:0004418 ! Thrombophlebitis [Term] id: HP:0004937 name: pulmonary artery aneurysm namespace: medical_genetics is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004938 name: Tortuous cerebral arteries namespace: medical_genetics is_a: HP:0005116 ! Arterial tortuosity [Term] id: HP:0004939 name: hypertrophy of the pulmonary artery wall namespace: medical_genetics is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004940 name: Arterial calcification, generalized namespace: medical_genetics is_a: HP:0003207 ! Arterial calcification [Term] id: HP:0004941 name: idiopathic extrahepatic portal hypertension namespace: medical_genetics is_a: HP:0001409 ! Portal hypertension [Term] id: HP:0004942 name: Aortic aneurysms namespace: medical_genetics is_a: HP:0001724 ! Aortic dilatation [Term] id: HP:0004943 name: Accelerated atherosclerosis namespace: medical_genetics is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0004944 name: Cerebral artery aneurysm namespace: medical_genetics synonym: "Cerebral aneurysm" EXACT [] is_a: HP:0002617 ! Aneurysmal disease is_a: HP:0009145 ! Abnormalities of the cerebral arteries [Term] id: HP:0004945 name: Spontaneous extracranial internal carotid artery dissection namespace: medical_genetics is_a: HP:0005294 ! Arterial dissection is_a: HP:0005344 ! Abnormality of the carotid arteries [Term] id: HP:0004947 name: Arteriovenous fistulas namespace: medical_genetics alt_id: HP:0004946 synonym: "Arteriovenous fistula" EXACT [] is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0004948 name: Vascular tortuosity namespace: medical_genetics is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0004950 name: Peripheral arterial disease namespace: medical_genetics alt_id: HP:0004973 synonym: "Peripheral vascular-disease" EXACT [] is_a: HP:0005114 ! Abnormalities of the peripheral arteries [Term] id: HP:0004952 name: Pulmonary arteriovenous fistulas namespace: medical_genetics is_a: HP:0004947 ! Arteriovenous fistulas [Term] id: HP:0004953 name: Abdominal aortic aneurysm namespace: medical_genetics is_a: HP:0005112 ! Dilatation of the abdominal aorta [Term] id: HP:0004954 name: Descending aortic aneurysm namespace: medical_genetics is_a: HP:0004959 ! Dilatation of the descending thoracic aorta [Term] id: HP:0004955 name: Arterial tortuosity, generalized namespace: medical_genetics is_a: HP:0005116 ! Arterial tortuosity [Term] id: HP:0004956 name: Systolic hypertension, mild namespace: medical_genetics is_a: HP:0004421 ! Elevated systolic blood pressure [Term] id: HP:0004957 name: peripheral pulmonary stenosis namespace: medical_genetics synonym: "Peripheral pulmonic stenosis" EXACT [] is_a: HP:0004415 ! Pulmonary artery stenosis [Term] id: HP:0004958 name: increased pulmonary artery pressure namespace: medical_genetics is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004959 name: Dilatation of the descending thoracic aorta namespace: medical_genetics is_a: HP:0001724 ! Aortic dilatation created_by: peter creation_date: 2008-03-25T06:32:00Z [Term] id: HP:0004960 name: absent pulmonary artery namespace: medical_genetics is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004961 name: pulmonary artery sling namespace: medical_genetics is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004962 name: Thoracic aorta calcification namespace: medical_genetics is_a: HP:0001679 ! Abnormalities of the aorta [Term] id: HP:0004963 name: Calcifications of the aorta namespace: medical_genetics is_a: HP:0001679 ! Abnormalities of the aorta [Term] id: HP:0004964 name: Arteries show medial hypertrophy namespace: medical_genetics is_a: HP:0002620 ! Arterial abnormalities [Term] id: HP:0004966 name: Medial calcification of medium-sized and major arteries namespace: medical_genetics is_a: HP:0003207 ! Arterial calcification [Term] id: HP:0004967 name: Systemic artery calcification namespace: medical_genetics is_a: HP:0003207 ! Arterial calcification [Term] id: HP:0004968 name: recurrent cerebral and cerebellar hemorrhage namespace: medical_genetics is_a: HP:0001342 ! Cerebral hemorrhage [Term] id: HP:0004969 name: peripheral pulmonary artery stenosis namespace: medical_genetics is_a: HP:0004415 ! Pulmonary artery stenosis [Term] id: HP:0004970 name: Ascending aortic dilation namespace: medical_genetics is_a: HP:0005111 ! Dilatation of the ascending aorta [Term] id: HP:0004971 name: pulmonary artery hypoplasia namespace: medical_genetics is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0004972 name: Elevated mean arterial pressure namespace: medical_genetics is_a: HP:0000822 ! Hypertension [Term] id: HP:0004974 name: coarctation of abdominal aorta namespace: medical_genetics is_a: HP:0001680 ! Coarctation of aorta [Term] id: HP:0004975 name: 'Erlenmeyer flask' deformity of the femurs namespace: medical_genetics synonym: "Erlenmeyer flask femora" EXACT [] is_a: HP:0002823 ! Abnormality of the femora [Term] id: HP:0004976 name: dislocations of the knees namespace: medical_genetics alt_id: HP:0006469 synonym: "Knee dislocations" EXACT [] is_a: HP:0002772 ! Joint dislocations is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0004977 name: bilateral absence of radius namespace: medical_genetics is_a: HP:0003974 ! Absent ossification/absence of radius [Term] id: HP:0004978 name: Splayed epiphyses and metaphyses namespace: medical_genetics is_a: HP:0003016 ! Widened metaphyses [Term] id: HP:0004979 name: Sclerotic, widened metaphyses namespace: medical_genetics is_a: HP:0003016 ! Widened metaphyses [Term] id: HP:0004980 name: Rarefaction of the metaphyses namespace: medical_genetics is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0004981 name: prominent ulnar styloid process namespace: medical_genetics is_a: HP:0004035 ! Abnormality of the styloid process [Term] id: HP:0004982 name: flat, irregular epiphyses namespace: medical_genetics alt_id: HP:0005076 synonym: "flattened, irregular epiphyses" EXACT [] is_a: HP:0002765 ! Irregular epiphyses [Term] id: HP:0004983 name: short, broad tubular bones namespace: medical_genetics is_a: HP:0000949 ! Short tubular bones [Term] id: HP:0004984 name: elbow contractures, mild namespace: medical_genetics is_a: HP:0002987 ! Elbow contractures [Term] id: HP:0004985 name: knee and ankle contractures namespace: medical_genetics is_a: HP:0002978 ! Knee contractures [Term] id: HP:0004986 name: rudimentary to absent fibulae namespace: medical_genetics synonym: "Small to absent fibula" EXACT [] is_a: HP:0002990 ! Absent fibulae [Term] id: HP:0004987 name: mesomelic lower limb shortening namespace: medical_genetics is_a: HP:0003027 ! Mesomelia [Term] id: HP:0004988 name: shortened long tubular bones namespace: medical_genetics is_a: HP:0000949 ! Short tubular bones [Term] id: HP:0004989 name: absent or hypoplastic radii namespace: medical_genetics is_a: HP:0002984 ! Hypoplastic radius [Term] id: HP:0004990 name: Epiphyseal streaking namespace: medical_genetics is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0004991 name: rhizomelic arm shortening namespace: medical_genetics is_a: HP:0002968 ! Rhizomelic shortening [Term] id: HP:0004992 name: dislocations of the wrists namespace: medical_genetics is_a: HP:0002772 ! Joint dislocations [Term] id: HP:0004993 name: slender long bones with narrow diaphyses namespace: medical_genetics is_a: HP:0003096 ! Slender long bones [Term] id: HP:0004994 name: long, flared metaphyses namespace: medical_genetics is_a: HP:0000945 ! Flared irregular metaphyses [Term] id: HP:0004996 name: radial bowing, severe namespace: medical_genetics is_a: HP:0002986 ! Radial bowing [Term] id: HP:0004997 name: multicentric ossification of proximal humeral epiphyses namespace: medical_genetics is_a: HP:0003897 ! Irregular ossification of the humeral epiphyses [Term] id: HP:0004998 name: occasional femoral bowing namespace: medical_genetics is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0004999 name: genu valgum or genu varum namespace: medical_genetics is_a: HP:0002857 ! Genu valgum [Term] id: HP:0005000 name: short tubular bones with mild metaphyseal flare namespace: medical_genetics is_a: HP:0000949 ! Short tubular bones [Term] id: HP:0005001 name: recurrent patellar dislocation namespace: medical_genetics synonym: "Recurrent dislocation of patellas" EXACT [] is_a: HP:0002999 ! Dislocation of patella [Term] id: HP:0005002 name: mild metaphyseal dysplasia namespace: medical_genetics is_a: HP:0000948 ! Metaphyseal dysplasia [Term] id: HP:0005003 name: Absent-small capital femoral epiphyses namespace: medical_genetics is_a: HP:0003090 ! Small capital femoral epiphyses [Term] id: HP:0005004 name: flattened proximal radial epiphyses namespace: medical_genetics is_a: HP:0004002 ! Flattened radial epiphyses [Term] id: HP:0005005 name: femoral bowing present at birth, straightening with time namespace: medical_genetics is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005006 name: small to absent patellae namespace: medical_genetics is_a: HP:0006443 ! Patellar aplasia [Term] id: HP:0005007 name: small, flat irregularly ossified epiphyses namespace: medical_genetics is_a: HP:0003039 ! Small, irregular epiphyses [Term] id: HP:0005008 name: large joint dislocations namespace: medical_genetics is_a: HP:0002772 ! Joint dislocations [Term] id: HP:0005009 name: short, dumbbell-shaped humeri namespace: medical_genetics is_a: HP:0000947 ! Dumbbell-shaped long bones [Term] id: HP:0005010 name: osteomyelitis leading to amputation due to slow healing fractures namespace: medical_genetics is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0005011 name: upper limb mesomelic shortening namespace: medical_genetics is_a: HP:0003027 ! Mesomelia [Term] id: HP:0005012 name: absence of radius and ulna namespace: medical_genetics is_a: HP:0003974 ! Absent ossification/absence of radius [Term] id: HP:0005013 name: Dysplastic distal radial epiphyses namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0005014 name: radial ray hypoplasia namespace: medical_genetics is_a: HP:0002984 ! Hypoplastic radius [Term] id: HP:0005015 name: Flared, widened metaphyses namespace: medical_genetics is_a: HP:0003015 ! Metaphyseal flaring [Term] id: HP:0005017 name: polyarticular chondrocalcinosis namespace: medical_genetics is_a: HP:0000934 ! Chondrocalcinosis [Term] id: HP:0005018 name: enlarged, poorly modeled metaphyses namespace: medical_genetics is_a: HP:0003051 ! Enlarged metaphyses [Term] id: HP:0005019 name: Diaphyseal thickening namespace: medical_genetics is_a: HP:0000940 ! Abnormality of the diaphyses [Term] id: HP:0005021 name: Bilateral elbow dislocations namespace: medical_genetics is_a: HP:0003042 ! Elbow dislocation [Term] id: HP:0005022 name: mild, lateral femoral bowing namespace: medical_genetics is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005023 name: small, flattened irregular epiphyses namespace: medical_genetics is_a: HP:0003039 ! Small, irregular epiphyses [Term] id: HP:0005024 name: mesomelic arm shortening namespace: medical_genetics is_a: HP:0003027 ! Mesomelia [Term] id: HP:0005025 name: hypoplastic distal humerii namespace: medical_genetics synonym: "Hypoplastic distal humeri" EXACT [] is_a: HP:0005792 ! Humeral hypoplasia [Term] id: HP:0005026 name: mesomelic/rhizomelic limb shortening namespace: medical_genetics is_a: HP:0002968 ! Rhizomelic shortening [Term] id: HP:0005027 name: hypoplastic or absent patella namespace: medical_genetics is_a: HP:0006443 ! Patellar aplasia [Term] id: HP:0005028 name: Widened proximal tibial metaphyses namespace: medical_genetics is_a: HP:0003016 ! Widened metaphyses [Term] id: HP:0005029 name: short, thickened tubular bones namespace: medical_genetics is_a: HP:0000949 ! Short tubular bones [Term] id: HP:0005030 name: diminished joint mobility at elbows, knees, and hips namespace: medical_genetics is_a: HP:0001376 ! Decreased mobility of joints [Term] id: HP:0005031 name: Achilles tendon contractures, mild namespace: medical_genetics is_a: HP:0001771 ! Achilles tendon contractures [Term] id: HP:0005032 name: Irregular mushroomed metaphyses namespace: medical_genetics is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0005033 name: ulnar hypoplasia, distal namespace: medical_genetics alt_id: HP:0006474 synonym: "Distal shortening of ulna" EXACT [] synonym: "Hypoplastic distal ulna" EXACT [] is_a: HP:0003022 ! Ulnar hypoplasia [Term] id: HP:0005034 name: mild joint hypermobility namespace: medical_genetics is_a: HP:0001382 ! Increased mobility of joints [Term] id: HP:0005035 name: short phalanges both hands and feet namespace: medical_genetics is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand [Term] id: HP:0005036 name: unilateral ulnar hypoplasia namespace: medical_genetics is_a: HP:0003022 ! Ulnar hypoplasia [Term] id: HP:0005037 name: proximal radio-ulnar synostosis namespace: medical_genetics is_a: HP:0002974 ! Radioulnar synostosis [Term] id: HP:0005038 name: Widened, irregular metaphyses namespace: medical_genetics alt_id: HP:0005016 alt_id: HP:0005058 def: "Abnormal widening and irregularity of the metaphyses." [HPO:curators] synonym: "Broad, irregular metaphyses" EXACT [] synonym: "Irregular, widened metaphyses" EXACT [] is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0005039 name: multiple exostoses of long tubular bones namespace: medical_genetics is_a: HP:0002762 ! Multiple exostoses [Term] id: HP:0005040 name: distal ulceration and osteomyelitis leading to autoamputation namespace: medical_genetics synonym: "Acral ulceration and osteomyelitis leading to autoamputation" EXACT [] is_a: HP:0001218 ! Autoamputation [Term] id: HP:0005041 name: Small, irregular capital femoral epiphyses namespace: medical_genetics is_a: HP:0003090 ! Small capital femoral epiphyses [Term] id: HP:0005042 name: Irregular, rachitic-like metaphyses namespace: medical_genetics is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0005043 name: irregular proximal humeral metaphyses namespace: medical_genetics is_a: HP:0003913 ! Irregular humeral metaphyses [Term] id: HP:0005044 name: very short, broad tubular bones namespace: medical_genetics is_a: HP:0000949 ! Short tubular bones [Term] id: HP:0005045 name: diaphyseal cortical sclerosis namespace: medical_genetics is_a: HP:0003034 ! Diaphyseal sclerosis [Term] id: HP:0005046 name: hypoplastic/absent/deformed radius namespace: medical_genetics is_a: HP:0003977 ! Deformed radius [Term] id: HP:0005047 name: camptodactyly with ulnar deviation namespace: medical_genetics is_a: HP:0009472 ! Joint contractures of the fingers [Term] id: HP:0005048 name: fusion of carpal bones, especially capitate and hamate namespace: medical_genetics synonym: "Fused capitate and hamate" EXACT [] synonym: "Fusion of hamate and capitate" EXACT [] is_a: HP:0009702 ! Synostosis involving the carpal bones [Term] id: HP:0005049 name: short, bowed lower limbs namespace: medical_genetics is_a: HP:0003054 ! Short, bowed limbs [Term] id: HP:0005050 name: anterior/lateral radial head dislocation namespace: medical_genetics is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005051 name: Small, flattened epiphyses namespace: medical_genetics alt_id: HP:0005080 def: "Abnormally small and flat epiphyses." [HPO:curators] synonym: "Small flattened epiphyses" EXACT [] is_a: HP:0003071 ! Flattened epiphyses [Term] id: HP:0005052 name: very short long bones namespace: medical_genetics is_a: HP:0003026 ! Short long bones [Term] id: HP:0005053 name: mild joint contractures namespace: medical_genetics synonym: "Joint contractures, mild" EXACT [] is_a: HP:0001372 ! Joint contractures [Term] id: HP:0005054 name: Wide metaphyses with lateral spurs namespace: medical_genetics is_a: HP:0003016 ! Widened metaphyses [Term] id: HP:0005055 name: mildly flared irregular metaphyses namespace: medical_genetics is_a: HP:0000945 ! Flared irregular metaphyses [Term] id: HP:0005056 name: absent carpals, metacarpals, and phalanges namespace: medical_genetics is_a: HP:0004231 ! Absent carpal bones/absent ossification of the carpal bones [Term] id: HP:0005057 name: severe limb shortening namespace: medical_genetics synonym: "Severe limb shortness" EXACT [] is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0005059 name: arthralgia/arthritis namespace: medical_genetics is_a: HP:0002829 ! Arthralgia [Term] id: HP:0005060 name: limited elbow flexion/extension namespace: medical_genetics is_a: HP:0001377 ! Limited elbow extension [Term] id: HP:0005061 name: short, dumbbell appearance of long bones namespace: medical_genetics is_a: HP:0000947 ! Dumbbell-shaped long bones [Term] id: HP:0005062 name: Sclerotic, irregular metaphyses namespace: medical_genetics alt_id: HP:0004995 synonym: "Metaphyseal irregularity and sclerosis" EXACT [] is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0005063 name: fragmented, irregular epiphyses namespace: medical_genetics is_a: HP:0002765 ! Irregular epiphyses [Term] id: HP:0005064 name: short, slender long bones namespace: medical_genetics is_a: HP:0003096 ! Slender long bones [Term] id: HP:0005065 name: Mild metaphyseal irregularities namespace: medical_genetics is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0005066 name: cone-shaped epiphyses fused within their metaphyses namespace: medical_genetics is_a: HP:0000937 ! Cone-shaped epiphyses [Term] id: HP:0005067 name: proximal fibular overgrowth namespace: medical_genetics is_a: HP:0003099 ! Fibular overgrowth [Term] id: HP:0005068 name: absent styloid processes namespace: medical_genetics is_a: HP:0004035 ! Abnormality of the styloid process [Term] id: HP:0005069 name: rhizo-meso-acromelic limb shortening namespace: medical_genetics is_a: HP:0002968 ! Rhizomelic shortening [Term] id: HP:0005070 name: proximal radial head dislocation namespace: medical_genetics is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005071 name: Dumbbell widening of long bone metaphyses, especially femurs and humeri namespace: medical_genetics is_a: HP:0003016 ! Widened metaphyses [Term] id: HP:0005072 name: increased laxity of wrists namespace: medical_genetics is_a: HP:0001382 ! Increased mobility of joints [Term] id: HP:0005073 name: moderate limitation of elbow extension namespace: medical_genetics is_a: HP:0001377 ! Limited elbow extension [Term] id: HP:0005074 name: Widened long bone metaphyses namespace: medical_genetics is_a: HP:0003016 ! Widened metaphyses [Term] id: HP:0005075 name: dumbbell-shaped short long bones namespace: medical_genetics is_a: HP:0000947 ! Dumbbell-shaped long bones [Term] id: HP:0005077 name: slightly short long bones namespace: medical_genetics is_a: HP:0003026 ! Short long bones [Term] id: HP:0005078 name: Lucent/sclerotic metaphyseal irregularity namespace: medical_genetics is_a: HP:0003025 ! Irregular metaphyses [Term] id: HP:0005079 name: short, broad dumbbell-shaped tubular bones with irregular metaphyses namespace: medical_genetics is_a: HP:0002810 ! Dumbbell-shaped metaphyses [Term] id: HP:0005081 name: mild radial hypoplasia namespace: medical_genetics is_a: HP:0002984 ! Hypoplastic radius [Term] id: HP:0005082 name: flattened, enlarged epiphyses namespace: medical_genetics is_a: HP:0003071 ! Flattened epiphyses [Term] id: HP:0005083 name: short, deformed tubular bones namespace: medical_genetics is_a: HP:0000949 ! Short tubular bones [Term] id: HP:0005084 name: anterior dislocation of radial head namespace: medical_genetics is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005085 name: limited knee flexion/extension namespace: medical_genetics is_a: HP:0003066 ! Limited knee extension [Term] id: HP:0005086 name: knee osteoarthritis namespace: medical_genetics is_a: HP:0002758 ! Osteoarthritis is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0005087 name: bowing of long bones, especially lower limb namespace: medical_genetics is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0005088 name: Metaphyseal widening with spurs namespace: medical_genetics is_a: HP:0003016 ! Widened metaphyses [Term] id: HP:0005089 name: Abnormal metaphyseal trabeculation namespace: medical_genetics is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0005090 name: lateral femoral bowing namespace: medical_genetics is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005091 name: asymmetric limb shortening namespace: medical_genetics is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0005092 name: irregular, flared metaphyses with streaky sclerosis namespace: medical_genetics is_a: HP:0000945 ! Flared irregular metaphyses [Term] id: HP:0005093 name: Absent proximal radial epiphyses namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0005094 name: short 4th metacarpal namespace: medical_genetics synonym: "Short 4th metacarpals" EXACT [] synonym: "Short fourth metacarpal" EXACT [] synonym: "Short fourth metacarpals" EXACT [] synonym: "Short metacarpals, esp 4th" EXACT [] is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0005096 name: distal femoral bowing namespace: medical_genetics is_a: HP:0002980 ! Femoral bowing [Term] id: HP:0005097 name: ulnar hypoplasia/aplasia namespace: medical_genetics is_a: HP:0003022 ! Ulnar hypoplasia [Term] id: HP:0005098 name: Chronic idiopathic polyhydramnios namespace: medical_genetics is_a: HP:0001561 ! Polyhydramnios [Term] id: HP:0005099 name: severe hydrops fetalis namespace: medical_genetics synonym: "Severe hydrops" EXACT [] is_a: HP:0001789 ! Hydrops fetalis [Term] id: HP:0005100 name: premature birth following premature rupture of fetal membranes namespace: medical_genetics is_a: HP:0001788 ! Premature rupture of membranes [Term] id: HP:0005101 name: High-frequency hearing loss namespace: medical_genetics synonym: "Hearing loss, high-frequency" EXACT [] synonym: "High frequency hearing loss" EXACT [] is_a: HP:0000365 ! Hearing loss created_by: peter creation_date: 2008-03-25T05:03:00Z [Term] id: HP:0005102 name: Cochlear degeneration namespace: medical_genetics is_a: HP:0000375 ! Abnormality of cochlea created_by: peter creation_date: 2008-03-25T05:06:00Z [Term] id: HP:0005103 name: Cartilaginous ossification of pinnae namespace: medical_genetics synonym: "Ossification of pinnae" EXACT [] is_a: HP:0000356 ! Abnormality of the outer ear created_by: peter creation_date: 2008-03-25T05:09:00Z [Term] id: HP:0005104 name: Hypoplastic nasal septum namespace: medical_genetics is_a: HP:0000419 ! Abnormality of the nasal septum created_by: peter creation_date: 2008-03-25T05:15:00Z [Term] id: HP:0005105 name: Abnormal nasal morphology namespace: medical_genetics comment: This is a category for overall abnormal morphology that may be replaced later with more exact descriptions. is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2008-03-25T05:21:00Z [Term] id: HP:0005106 name: Abnormality of the vertebral endplates namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies created_by: peter creation_date: 2008-03-25T06:01:00Z [Term] id: HP:0005107 name: Abnormality of the sacrum namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column created_by: peter creation_date: 2008-03-25T06:03:00Z [Term] id: HP:0005108 name: Abnormality of the intervertebral disks namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column created_by: peter creation_date: 2008-03-25T06:05:00Z [Term] id: HP:0005109 name: Abnormality of the Achilles tendon namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet created_by: peter creation_date: 2008-03-25T06:21:00Z [Term] id: HP:0005110 name: Atrial fibrillation namespace: medical_genetics is_a: HP:0001692 ! Atrial arrhythmias created_by: peter creation_date: 2008-03-25T06:29:00Z [Term] id: HP:0005111 name: Dilatation of the ascending aorta namespace: medical_genetics alt_id: HP:0005128 synonym: "Dilation of the ascending aorta" EXACT [] is_a: HP:0001724 ! Aortic dilatation created_by: peter creation_date: 2008-03-25T06:32:00Z [Term] id: HP:0005112 name: Dilatation of the abdominal aorta namespace: medical_genetics is_a: HP:0001724 ! Aortic dilatation created_by: peter creation_date: 2008-03-25T06:33:00Z [Term] id: HP:0005113 name: Dilatation of the aortic arch namespace: medical_genetics alt_id: HP:0004965 synonym: "Aortic arch dilatation" EXACT [] is_a: HP:0001724 ! Aortic dilatation created_by: peter creation_date: 2008-03-25T06:34:00Z [Term] id: HP:0005114 name: Abnormalities of the peripheral arteries namespace: medical_genetics is_a: HP:0002620 ! Arterial abnormalities created_by: peter creation_date: 2008-03-25T06:35:00Z [Term] id: HP:0005115 name: Supraventricular arrhythmia namespace: medical_genetics is_a: HP:0001665 ! Heart rhythm disorders created_by: peter creation_date: 2008-03-25T06:37:00Z [Term] id: HP:0005116 name: Arterial tortuosity namespace: medical_genetics is_a: HP:0002620 ! Arterial abnormalities is_a: HP:0004948 ! Vascular tortuosity created_by: peter creation_date: 2008-03-25T06:39:00Z [Term] id: HP:0005117 name: Elevated diastolic blood pressure namespace: medical_genetics is_a: HP:0000822 ! Hypertension created_by: peter creation_date: 2008-03-25T06:43:00Z [Term] id: HP:0005118 name: Preauricular fistulas namespace: medical_genetics is_a: HP:0004467 ! preauricular sinus [Term] id: HP:0005120 name: Abnormality of the cardiac atria namespace: medical_genetics is_a: HP:0001627 ! Cardiac abnormality created_by: peter creation_date: 2008-03-26T04:12:00Z [Term] id: HP:0005121 name: Posterior scalloping of vertebral bodies namespace: medical_genetics alt_id: HP:0004572 alt_id: HP:0004579 def: "The posterior vertebral scalloping sign appears on a lateral radiograph of the spine as an exaggeration of the normal concavity of the posterior surface of one or more vertebral bodies." [HPO:curators] synonym: "Posterior vertebral body scalloping" EXACT [] is_a: HP:0004620 ! Scalloping of vertebral bodies [Term] id: HP:0005124 name: Mildly dysmorphic facies namespace: medical_genetics alt_id: HP:0004643 alt_id: HP:0004649 def: "The presence of a mild degree of facial dysmorphism." [HPO:curators] synonym: "Mild facial dysmorphia" EXACT [] synonym: "Minor dysmorphic facies" EXACT [] is_a: HP:0001999 ! Facial dysmorphism [Term] id: HP:0005129 name: Congenital hypertrophy of left ventricle namespace: medical_genetics is_a: HP:0001712 ! Left ventricular hypertrophy [Term] id: HP:0005130 name: Restrictive heart failure namespace: medical_genetics is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0005132 name: Pericardial constriction namespace: medical_genetics is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0005133 name: Right ventricular dilatation namespace: medical_genetics is_a: HP:0001707 ! Right ventricular abnormality [Term] id: HP:0005134 name: Absence of the pulmonary valve namespace: medical_genetics alt_id: HP:0005131 synonym: "Absent pulmonary valve" EXACT [] is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0005135 name: T-wave abnormalities namespace: medical_genetics is_a: HP:0001656 ! EKG abnormality [Term] id: HP:0005136 name: Premature calcification of mitral annulus namespace: medical_genetics is_a: HP:0004382 ! Mitral valve calcification [Term] id: HP:0005137 name: Sinus bradycardia, isolated namespace: medical_genetics is_a: HP:0001688 ! Sinus bradycardia [Term] id: HP:0005138 name: Coronary artery disease presenting after age 30 years in heterozygotes, in childhood in homozygotes namespace: medical_genetics is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0005139 name: Atrioventricular septal defect, partial namespace: medical_genetics is_a: HP:0001629 ! Ventricular septal defect [Term] id: HP:0005140 name: Valvular aortic stenosis namespace: medical_genetics is_a: HP:0001650 ! Aortic stenosis [Term] id: HP:0005141 name: Episodes of ventricular tachycardia namespace: medical_genetics is_a: HP:0004756 ! Ventricular tachycardia [Term] id: HP:0005142 name: Atrioventricular nodal disease namespace: medical_genetics is_a: HP:0001665 ! Heart rhythm disorders [Term] id: HP:0005143 name: Right pulmonary artery, anomalous origin of namespace: medical_genetics is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0005144 name: Left ventricular septal hypertrophy namespace: medical_genetics is_a: HP:0001628 ! Ventricular septum abnormality [Term] id: HP:0005145 name: Coronary artery stenosis namespace: medical_genetics is_a: HP:0006704 ! Abnormality of the coronary arteries [Term] id: HP:0005146 name: Calcifications of the cardiac valves namespace: medical_genetics is_a: HP:0001654 ! Abnormality of the heart valves [Term] id: HP:0005147 name: Bidirectional ventricular ectopy namespace: medical_genetics is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0005148 name: Pulmonary valve defects namespace: medical_genetics is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0005149 name: Mitral stenosis due to calcifications namespace: medical_genetics is_a: HP:0001718 ! Mitral stenosis is_a: HP:0004382 ! Mitral valve calcification [Term] id: HP:0005150 name: Atrioventricular conduction disturbances namespace: medical_genetics is_a: HP:0005142 ! Atrioventricular nodal disease [Term] id: HP:0005151 name: Proximal aortic coarctation namespace: medical_genetics is_a: HP:0001680 ! Coarctation of aorta [Term] id: HP:0005152 name: Oncocytic cardiomyopathy namespace: medical_genetics is_a: HP:0001638 ! Cardiomyopathy [Term] id: HP:0005155 name: Ventricular escape rhythms namespace: medical_genetics is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0005156 name: Hypoplastic left atrium namespace: medical_genetics is_a: HP:0005120 ! Abnormality of the cardiac atria [Term] id: HP:0005157 name: Concentric hypertrophic cardiomyopathy namespace: medical_genetics is_a: HP:0001639 ! Hypertrophic cardiomyopathy [Term] id: HP:0005159 name: Dilated cardiomyopathy may be present namespace: medical_genetics is_a: HP:0001644 ! Dilated cardiomyopathy [Term] id: HP:0005160 name: Total anomalous pulmonary venous return namespace: medical_genetics alt_id: HP:0005153 alt_id: HP:0005175 comment: Pulmonary veins drain through abnormal connections to the right atrium. synonym: "Total anomalous pulmonary venous connection" EXACT [] synonym: "Total anomalous pulmonary venous drainage" EXACT [] is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005161 name: Premature sudden cardiac death namespace: medical_genetics is_a: HP:0001645 ! Sudden cardiac death [Term] id: HP:0005162 name: Impaired left ventricular function namespace: medical_genetics alt_id: HP:0005154 synonym: "Left ventricular impairment" EXACT [] is_a: HP:0001711 ! Left ventricular abnormality [Term] id: HP:0005164 name: Dysplastic pulmonary valve namespace: medical_genetics is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0005165 name: Shortened P-R interval on EKG namespace: medical_genetics synonym: "Electrocardiographic short pr interval" EXACT [] synonym: "Short pr interval" EXACT [] is_a: HP:0001656 ! EKG abnormality [Term] id: HP:0005166 name: Idiopathic ventricular fibrillation namespace: medical_genetics is_a: HP:0001663 ! Ventricular fibrillation [Term] id: HP:0005167 name: Ventricular hypertrophy on ECG namespace: medical_genetics is_a: HP:0001714 ! Ventricular hypertrophy [Term] id: HP:0005168 name: Elevated right atrial pressure namespace: medical_genetics is_a: HP:0005120 ! Abnormality of the cardiac atria [Term] id: HP:0005170 name: Complete heart block with broad RS complexes namespace: medical_genetics is_a: HP:0001709 ! Complete heart block [Term] id: HP:0005171 name: Left ventricular wall hypertrophy namespace: medical_genetics is_a: HP:0001712 ! Left ventricular hypertrophy [Term] id: HP:0005172 name: Left anterior or posterior hemiblock namespace: medical_genetics is_a: HP:0001668 ! Heart block [Term] id: HP:0005173 name: Aortic stenosis due to calcifications namespace: medical_genetics is_a: HP:0001650 ! Aortic stenosis [Term] id: HP:0005174 name: Membranous subvalvular aortic stenosis namespace: medical_genetics is_a: HP:0004381 ! Supravalvular aortic stenosis [Term] id: HP:0005176 name: Dysplastic aortic valve namespace: medical_genetics is_a: HP:0001646 ! Abnormality of the aortic valve [Term] id: HP:0005177 name: Premature arteriosclerosis namespace: medical_genetics is_a: HP:0002634 ! Arteriosclerosis [Term] id: HP:0005178 name: Complete heart block with narrow QRS complexes namespace: medical_genetics is_a: HP:0001709 ! Complete heart block [Term] id: HP:0005179 name: Atrial fibrillation may occur namespace: medical_genetics is_a: HP:0005110 ! Atrial fibrillation [Term] id: HP:0005180 name: Tricuspid insufficiency namespace: medical_genetics alt_id: HP:0004753 synonym: "Tricuspid regurgitation" EXACT [] is_a: HP:0001702 ! Abnormality of the tricuspid valve [Term] id: HP:0005181 name: Premature coronary artery disease namespace: medical_genetics is_a: HP:0001677 ! Coronary artery disease [Term] id: HP:0005182 name: Bicuspid pulmonary valve namespace: medical_genetics is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0005183 name: Pericardial lymphangiectasia namespace: medical_genetics is_a: HP:0001697 ! Abnormality of the pericardium [Term] id: HP:0005184 name: Prolonged QTc interval namespace: medical_genetics is_a: HP:0001657 ! Prolonged QT interval on EKG [Term] id: HP:0005185 name: Global systolic dysfunction namespace: medical_genetics is_a: HP:0006673 ! Reduced systolic function [Term] id: HP:0005186 name: Synovial hypertrophy namespace: medical_genetics is_a: HP:0005262 ! Abnormality of the synovia [Term] id: HP:0005187 name: Progressive joint destruction namespace: medical_genetics is_a: HP:0001367 ! Abnormality of the joints [Term] id: HP:0005188 name: Contractures, multiple congenital namespace: medical_genetics is_a: HP:0002803 ! Congenital contractures [Term] id: HP:0005189 name: Mild to moderate improving contractures namespace: medical_genetics is_a: HP:0005053 ! mild joint contractures [Term] id: HP:0005190 name: Proximal finger joint hyperextensibility namespace: medical_genetics is_a: HP:0001187 ! Hyperextensible fingers [Term] id: HP:0005191 name: Congenital knee dislocation namespace: medical_genetics is_a: HP:0001373 ! Dislocations [Term] id: HP:0005192 name: Limited knee movement namespace: medical_genetics is_a: HP:0001376 ! Decreased mobility of joints [Term] id: HP:0005193 name: Restricted large joint movement namespace: medical_genetics is_a: HP:0001376 ! Decreased mobility of joints [Term] id: HP:0005194 name: Flattened metatarsal and metacarpal heads namespace: medical_genetics synonym: "Flattened metacarpal and metatarsal heads" EXACT [] is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0005195 name: Polyarticular arthropathy namespace: medical_genetics is_a: HP:0003040 ! Arthropathy [Term] id: HP:0005196 name: Spontaneous joint hemorrhage namespace: medical_genetics is_a: HP:0005261 ! Joint hemorrhage [Term] id: HP:0005197 name: Generalized morning stiffness namespace: medical_genetics is_a: HP:0001387 ! Joint stiffness [Term] id: HP:0005198 name: Stiff interphalangeal joints namespace: medical_genetics is_a: HP:0001387 ! Joint stiffness [Term] id: HP:0005199 name: Absent abdominal musculature namespace: medical_genetics is_a: HP:0004298 ! Abnormality of the abdominal wall musculature [Term] id: HP:0005200 name: Retroperitoneal fibrosis namespace: medical_genetics is_a: HP:0002585 ! Abnormality of the peritoneum [Term] id: HP:0005201 name: Anomalous splenoportal venous system namespace: medical_genetics is_a: HP:0006707 ! Abnormality of the hepatic vasculature [Term] id: HP:0005202 name: Helicobacter pylori infection susceptibility namespace: medical_genetics is_a: HP:0004798 ! Gastrointestinal infections [Term] id: HP:0005203 name: Spontaneous esophageal perforation namespace: medical_genetics alt_id: HP:0005251 synonym: "Spontaneous esophageal rupture" EXACT [] is_a: HP:0002031 ! Abnormality of the esophagus [Term] id: HP:0005205 name: Duodenal stenosis/atresia namespace: medical_genetics is_a: HP:0002247 ! Duodenal atresia [Term] id: HP:0005206 name: Pancreatic pseudocysts namespace: medical_genetics is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0005207 name: Gastric hypertrophy namespace: medical_genetics is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0005208 name: Congenital secretory diarrhea namespace: medical_genetics is_a: HP:0002014 ! Diarrhea [Term] id: HP:0005209 name: Intrahepatic bile duct cysts namespace: medical_genetics is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0005210 name: Colon hypoplastic namespace: medical_genetics is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0005211 name: Midgut malrotation namespace: medical_genetics is_a: HP:0002566 ! Intestinal malrotation [Term] id: HP:0005212 name: Anal mucosal leukoplakia namespace: medical_genetics is_a: HP:0002034 ! Abnormality of the rectum [Term] id: HP:0005213 name: Pancreatic calcification namespace: medical_genetics synonym: "Pancreatic calcifications" EXACT [] is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0005214 name: Intestinal obstruction namespace: medical_genetics is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005215 name: Frequent Giardia lamblia infestation namespace: medical_genetics is_a: HP:0004798 ! Gastrointestinal infections [Term] id: HP:0005216 name: Chewing difficulties namespace: medical_genetics is_a: HP:0002022 ! Feeding difficulties [Term] id: HP:0005217 name: Duplication of internal organs namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0005218 name: Anoperineal fistula namespace: medical_genetics def: "The presence of a fistula (abnormal tunnel) between the anal region and the perineum (diamond-shaped region of the body between the pubic arch and the anus)." [HPO:curators] is_a: HP:0004871 ! Perineal fistula [Term] id: HP:0005219 name: Absence of intrinsic factor by immunoassay of gastric juices namespace: medical_genetics synonym: "Intrinsic factor absent from gastric juice" EXACT [] is_a: HP:0002577 ! Abnormality of the stomach [Term] id: HP:0005220 name: Multiple intestinal neurofibromatosis namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0005222 name: Bowel diverticula namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0005223 name: Duplicated colon namespace: medical_genetics is_a: HP:0002250 ! Abnormality of the large intestine [Term] id: HP:0005224 name: Rectal abscess namespace: medical_genetics synonym: "Perirectal abscesses" EXACT [] is_a: HP:0002034 ! Abnormality of the rectum [Term] id: HP:0005225 name: Intestinal edema namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0005227 name: Multiple adenomatous colon polyps namespace: medical_genetics alt_id: HP:0005226 synonym: "Multiple colonic adenomatous polyps" EXACT [] is_a: HP:0002250 ! Abnormality of the large intestine is_a: HP:0005266 ! Intestinal polyps [Term] id: HP:0005228 name: Progressive deterioration of hepatic function namespace: medical_genetics is_a: HP:0001410 ! Decreased liver function [Term] id: HP:0005229 name: Jejunoileal ulceration namespace: medical_genetics is_a: HP:0001549 ! Abnormality of the ileum is_a: HP:0005265 ! Abnormality of the jejunum [Term] id: HP:0005230 name: Biliary tract obstruction namespace: medical_genetics is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0005231 name: Chronic gastritis namespace: medical_genetics is_a: HP:0005263 ! Gastritis [Term] id: HP:0005232 name: Pancreatic dysplasia namespace: medical_genetics is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0005233 name: Hypoplastic gallbladder namespace: medical_genetics is_a: HP:0005264 ! Abnormality of the gallbladder [Term] id: HP:0005234 name: Neonatal intestinal obstruction namespace: medical_genetics is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005235 name: Nonduodenal intestinal atresia namespace: medical_genetics is_a: HP:0002589 ! Gastrointestinal atresia [Term] id: HP:0005236 name: Chronic calcifying pancreatitis namespace: medical_genetics is_a: HP:0006280 ! Chronic pancreatitis [Term] id: HP:0005237 name: Degenerative liver disease namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0005238 name: Discrete intestinal polyps namespace: medical_genetics is_a: HP:0005266 ! Intestinal polyps [Term] id: HP:0005239 name: Recurrent symptoms and signs of intestinal obstruction namespace: medical_genetics is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005240 name: Esophageal obstruction namespace: medical_genetics is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005241 name: Aganglionosis, total intestinal namespace: medical_genetics is_a: HP:0004362 ! Abnormality of the enteric ganglia [Term] id: HP:0005242 name: Extrahepatic biliary duct atresia namespace: medical_genetics is_a: HP:0005912 ! Biliary duct atresia [Term] id: HP:0005243 name: Partial abdominal muscle agenesis namespace: medical_genetics is_a: HP:0004298 ! Abnormality of the abdominal wall musculature [Term] id: HP:0005244 name: Gastrointestinal infarctions namespace: medical_genetics is_a: HP:0002012 ! Abnormality of gastrointestinal organs [Term] id: HP:0005245 name: Hypoplastic intestines namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines [Term] id: HP:0005246 name: Giant hypertrophic gastritis namespace: medical_genetics is_a: HP:0005263 ! Gastritis [Term] id: HP:0005247 name: Abdominal muscular hypoplasia namespace: medical_genetics is_a: HP:0004298 ! Abnormality of the abdominal wall musculature [Term] id: HP:0005248 name: Intrahepatic biliary atresia namespace: medical_genetics synonym: "Intrahepatic atresia of biliary duct" EXACT [] is_a: HP:0005912 ! Biliary duct atresia [Term] id: HP:0005249 name: Functional intestinal obstruction namespace: medical_genetics is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005250 name: High intestinal obstruction namespace: medical_genetics is_a: HP:0004796 ! Gastrointestinal obstruction [Term] id: HP:0005252 name: Reduced anterior-posterior chest diameter namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0005253 name: Increased anterioposterior diameter of chest namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0005254 name: Unilateral chest hypoplasia namespace: medical_genetics is_a: HP:0005257 ! Thoracic hypoplasia [Term] id: HP:0005255 name: Absence of pectoralis minor muscle namespace: medical_genetics synonym: "Pectoralis minor aplasia" EXACT [] is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0005256 name: Unilateral hypoplasia or absence of pectoralis major muscle namespace: medical_genetics is_a: HP:0005255 ! Absence of pectoralis minor muscle [Term] id: HP:0005257 name: Thoracic hypoplasia namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0005258 name: Pectoral muscle hypoplasia/aplasia namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0005259 name: Abnormal facility in opposing the shoulders namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0005261 name: Joint hemorrhage namespace: medical_genetics is_a: HP:0001367 ! Abnormality of the joints created_by: peter creation_date: 2008-03-26T04:27:00Z [Term] id: HP:0005262 name: Abnormality of the synovia namespace: medical_genetics is_a: HP:0001367 ! Abnormality of the joints created_by: peter creation_date: 2008-03-26T04:27:00Z [Term] id: HP:0005263 name: Gastritis namespace: medical_genetics is_a: HP:0004295 ! Abnormality of the gastric mucosa created_by: peter creation_date: 2008-03-26T04:32:00Z [Term] id: HP:0005264 name: Abnormality of the gallbladder namespace: medical_genetics is_a: HP:0004297 ! Abnormality of the biliary system created_by: peter creation_date: 2008-03-26T04:40:00Z [Term] id: HP:0005265 name: Abnormality of the jejunum namespace: medical_genetics is_a: HP:0002244 ! Abnormality of the small intestine created_by: peter creation_date: 2008-03-26T04:44:00Z [Term] id: HP:0005266 name: Intestinal polyps namespace: medical_genetics is_a: HP:0002242 ! Abnormality of the intestines created_by: peter creation_date: 2008-03-26T04:46:00Z [Term] id: HP:0005267 name: Premature delivery because of cervical insufficiency or membrane fragility namespace: medical_genetics is_a: HP:0001622 ! Premature birth [Term] id: HP:0005268 name: Increased risk of spontaneous abortion namespace: medical_genetics is_a: HP:0001197 ! Prenatal manifestations and birth abnormalities [Term] id: HP:0005269 name: Broad, square nasal tip namespace: medical_genetics is_a: HP:0000455 ! Broad nasal tip [Term] id: HP:0005270 name: Small triangular nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0005271 name: Disproportionately large nose namespace: medical_genetics is_a: HP:0005105 ! Abnormal nasal morphology [Term] id: HP:0005272 name: Prominent nasolabial folds namespace: medical_genetics is_a: HP:0005289 ! Abnormality of the nasolabial region [Term] id: HP:0005273 name: Absent nasal septal cartilage namespace: medical_genetics synonym: "Absent nasal septum" EXACT [] is_a: HP:0000419 ! Abnormality of the nasal septum [Term] id: HP:0005274 name: Prominent nasal tip namespace: medical_genetics is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0005275 name: Cartilaginous ossification of nose namespace: medical_genetics is_a: HP:0000429 ! Abnormality of the nasal alae [Term] id: HP:0005277 name: Depressed nasal tip due to major alar cartilage hypoplasia namespace: medical_genetics is_a: HP:0000430 ! Hypoplastic nasal alae [Term] id: HP:0005278 name: Hypoplastic nasal tip namespace: medical_genetics is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0005279 name: Flattened nasal tip namespace: medical_genetics is_a: HP:0000436 ! Abnormality of the nasal tip [Term] id: HP:0005280 name: Depressed nasal root and bridge namespace: medical_genetics is_a: HP:0000425 ! Flattened nasal bridge [Term] id: HP:0005281 name: Hypoplastic nasal bridge namespace: medical_genetics is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005282 name: Broad notched nasal tip namespace: medical_genetics is_a: HP:0000455 ! Broad nasal tip [Term] id: HP:0005283 name: Thin, long, pointed nose namespace: medical_genetics is_a: HP:0000450 ! Small, pointed nose [Term] id: HP:0005284 name: Broad, flat nasal root namespace: medical_genetics alt_id: HP:0000459 synonym: "Flat, broad nasal root" EXACT [] is_a: HP:0000424 ! Broad nasal root [Term] id: HP:0005285 name: Absent nasal bridge namespace: medical_genetics is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005286 name: Hypoplastic, notched nares namespace: medical_genetics is_a: HP:0005288 ! Abnormality of the nares [Term] id: HP:0005287 name: Elevated nasal bridge namespace: medical_genetics def: "Elevation of the upper, bony part of the nose." [HPO:curators] is_a: HP:0000422 ! Abnormality of the nasal bridge [Term] id: HP:0005288 name: Abnormality of the nares namespace: medical_genetics synonym: "Abnormality of the nostrils" EXACT [] is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2008-03-26T06:04:00Z [Term] id: HP:0005289 name: Abnormality of the nasolabial region namespace: medical_genetics is_a: HP:0000366 ! Abnormality of the nose created_by: peter creation_date: 2008-03-26T06:07:00Z [Term] id: HP:0005290 name: Internal carotid artery hypoplasia namespace: medical_genetics is_a: HP:0005344 ! Abnormality of the carotid arteries [Term] id: HP:0005291 name: Inflammatory arteriopathy namespace: medical_genetics is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005292 name: Intimal thickening in the coronary arteries namespace: medical_genetics is_a: HP:0006704 ! Abnormality of the coronary arteries [Term] id: HP:0005293 name: Frequent early-onset venous insufficiency namespace: medical_genetics is_a: HP:0002624 ! Venous abnormalities [Term] id: HP:0005294 name: Arterial dissection namespace: medical_genetics is_a: HP:0002620 ! Arterial abnormalities [Term] id: HP:0005295 name: Pseudocoarctation of the aorta namespace: medical_genetics is_a: HP:0001679 ! Abnormalities of the aorta [Term] id: HP:0005296 name: Occlusive vascular disease namespace: medical_genetics is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005297 name: Premature occlusive vascular disease namespace: medical_genetics is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005298 name: Aorta arises from right ventricle namespace: medical_genetics is_a: HP:0001679 ! Abnormalities of the aorta [Term] id: HP:0005299 name: Premature peripheral vascular disease namespace: medical_genetics is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005300 name: Nodular inflammatory vasculitis namespace: medical_genetics is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005301 name: Persistent left superior vena cava namespace: medical_genetics is_a: HP:0005345 ! Abnormality of the vena cava [Term] id: HP:0005302 name: Elongated, tortuous carotid arteries namespace: medical_genetics is_a: HP:0004948 ! Vascular tortuosity is_a: HP:0005116 ! Arterial tortuosity is_a: HP:0005344 ! Abnormality of the carotid arteries [Term] id: HP:0005303 name: Aortic arch calcification namespace: medical_genetics is_a: HP:0004962 ! Thoracic aorta calcification [Term] id: HP:0005304 name: Hypoplastic pulmonary veins namespace: medical_genetics is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005305 name: Cerebral venous thrombosis namespace: medical_genetics synonym: "Cerebral thrombosis" EXACT [] synonym: "Cerebral vein thrombosis" EXACT [] is_a: HP:0004936 ! Venous thrombosis [Term] id: HP:0005306 name: Capillary hemangiomas namespace: medical_genetics synonym: "Capillary hemangioma" EXACT [] is_a: HP:0002597 ! Abnormality of the vasculature [Term] id: HP:0005307 name: Postural hypotension with compensatory tachycardia namespace: medical_genetics is_a: HP:0001278 ! Orthostatic hypotension [Term] id: HP:0005308 name: Pulmonary artery vasoconstriction namespace: medical_genetics is_a: HP:0004414 ! Abnormality of the pulmonary artery [Term] id: HP:0005309 name: Peripheral vascular insufficiency namespace: medical_genetics is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005310 name: Small and large vessel vasculitis namespace: medical_genetics is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005311 name: Agenesis of pulmonary vessels namespace: medical_genetics is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005312 name: Arteries show intimal fibrosis namespace: medical_genetics is_a: HP:0002620 ! Arterial abnormalities [Term] id: HP:0005313 name: Arterial fibromuscular dysplasia namespace: medical_genetics is_a: HP:0002620 ! Arterial abnormalities [Term] id: HP:0005314 name: Anomalous branches of internal carotid artery namespace: medical_genetics is_a: HP:0005344 ! Abnormality of the carotid arteries [Term] id: HP:0005315 name: Occlusive arterial disease namespace: medical_genetics is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005316 name: Peripheral pulmonary vessel aplasia namespace: medical_genetics is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005317 name: Increased pulmonary vascular resistance namespace: medical_genetics is_a: HP:0004930 ! Abnormality of the pulmonary vasculature [Term] id: HP:0005318 name: Cerebral vasculitis namespace: medical_genetics is_a: HP:0002633 ! Vasculitis [Term] id: HP:0005319 name: Severe midface hypoplasia namespace: medical_genetics is_a: HP:0000272 ! Malar hypoplasia [Term] id: HP:0005320 name: Lack of facial subcutaneous fat namespace: medical_genetics is_a: HP:0003717 ! Minimal subcutaneous fat [Term] id: HP:0005321 name: Mandibulofacial dysostosis namespace: medical_genetics is_a: HP:0004439 ! Craniofacial dysostosis [Term] id: HP:0005322 name: Prominent nasal septum namespace: medical_genetics is_a: HP:0000419 ! Abnormality of the nasal septum [Term] id: HP:0005323 name: Hemifacial hypertrophy namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0005324 name: Derangements of facial expression namespace: medical_genetics is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0005325 name: Unusual hairline with hair growth on temples extending to lateral eyebrow namespace: medical_genetics is_a: HP:0000599 ! Abnormality of the frontal hairline [Term] id: HP:0005326 name: Hypoplastic philtrum namespace: medical_genetics is_a: HP:0000288 ! Abnormality of the philtrum [Term] id: HP:0005327 name: Loss of facial expression namespace: medical_genetics is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0005328 name: Progeroid facial appearance namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face [Term] id: HP:0005329 name: Fixed facial expression namespace: medical_genetics is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0005330 name: Small pointed chin namespace: medical_genetics is_a: HP:0000307 ! Pointed chin is_a: HP:0000331 ! Small chin [Term] id: HP:0005331 name: Long, hypoplastic philtrum namespace: medical_genetics is_a: HP:0000343 ! Long philtrum is_a: HP:0005326 ! Hypoplastic philtrum [Term] id: HP:0005332 name: Recurrent mandibular subluxations namespace: medical_genetics is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0005333 name: Prematurely aged facial appearance namespace: medical_genetics synonym: "Aged facial appearance" EXACT [] is_a: HP:0005328 ! Progeroid facial appearance [Term] id: HP:0005334 name: Facial paresis, usually bilateral namespace: medical_genetics is_a: HP:0000302 ! Facial palsy, unilateral or bilateral [Term] id: HP:0005335 name: Sleepy facial expression namespace: medical_genetics is_a: HP:0005346 ! Abnormal facial expression [Term] id: HP:0005336 name: Forehead hyperpigmentation namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0005337 name: Shallow orbital ridges namespace: medical_genetics alt_id: HP:0004667 alt_id: HP:0004672 synonym: "Depressed supraorbital ridge" EXACT [] synonym: "Flat supraorbital ridge" EXACT [] synonym: "Hypoplastic supraorbital ridge" EXACT [] synonym: "Hypoplastic supraorbital ridges" EXACT [] synonym: "Shallow supraorbital ridge" EXACT [] is_a: HP:0000271 ! Abnormality of the face is_a: HP:0000315 ! Abnormality of the orbital region [Term] id: HP:0005338 name: Sparse lateral eyebrows namespace: medical_genetics alt_id: HP:0004521 synonym: "Laterally sparse eyebrow" EXACT [] is_a: HP:0000535 ! Sparse eyebrows [Term] id: HP:0005339 name: Abnormality of complement namespace: medical_genetics is_a: HP:0002715 ! Immunological abnormality created_by: peter creation_date: 2008-03-26T07:58:00Z [Term] id: HP:0005340 name: Spastic/hyperactive bladder namespace: medical_genetics is_a: HP:0000009 ! Functional abnormality of the bladder [Term] id: HP:0005341 name: Abnormal bladder regulation due to autonomic dysfunction namespace: medical_genetics is_a: HP:0002387 ! Autonomic dysfunction [Term] id: HP:0005342 name: Bladder hypoplasia with no external orifice namespace: medical_genetics is_a: HP:0005343 ! Hypoplastic bladder [Term] id: HP:0005343 name: Hypoplastic bladder namespace: medical_genetics is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0005344 name: Abnormality of the carotid arteries namespace: medical_genetics is_a: HP:0002620 ! Arterial abnormalities created_by: peter creation_date: 2008-03-26T06:37:00Z [Term] id: HP:0005345 name: Abnormality of the vena cava namespace: medical_genetics is_a: HP:0002597 ! Abnormality of the vasculature created_by: peter creation_date: 2008-03-26T06:40:00Z [Term] id: HP:0005346 name: Abnormal facial expression namespace: medical_genetics is_a: HP:0000271 ! Abnormality of the face created_by: peter creation_date: 2008-03-26T06:44:00Z [Term] id: HP:0005347 name: Cartilaginous trachea namespace: medical_genetics is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0005348 name: Inspiratory stridor namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0005349 name: Hypoplasia of the epiglottis namespace: medical_genetics synonym: "Hypoplastic epiglottis" EXACT [] is_a: HP:0005483 ! Abnormality of the epiglottis [Term] id: HP:0005350 name: Increased frequency of bacterial, viral, and fungal infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005351 name: Elevated serum IgA namespace: medical_genetics alt_id: HP:0005417 synonym: "Increased serum IgA" EXACT [] is_a: HP:0004314 ! Increased immunoglobulin levels [Term] id: HP:0005352 name: Severe t-cell immunodeficiency namespace: medical_genetics is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005353 name: Susceptibility to herpesvirus namespace: medical_genetics is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005354 name: Absent cellular immunity namespace: medical_genetics is_a: HP:0002843 ! Abnormality of T-cells [Term] id: HP:0005355 name: Frequent pyogenic infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005356 name: Decreased serum complement factor I namespace: medical_genetics is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005357 name: Defective B cell differentiation namespace: medical_genetics is_a: HP:0002846 ! Abnormality of B-cells [Term] id: HP:0005359 name: Absent or small dysplastic thymus namespace: medical_genetics is_a: HP:0002715 ! Immunological abnormality [Term] id: HP:0005360 name: Susceptibility to chickenpox namespace: medical_genetics is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005361 name: Prone to bacterial infection, but not viral namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005362 name: Variable immunodeficiency namespace: medical_genetics is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005363 name: Partial humoral immunodeficiency namespace: medical_genetics is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005364 name: Severe viral infections, namespace: medical_genetics is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005365 name: Absent peripheral blood B cells namespace: medical_genetics is_a: HP:0002846 ! Abnormality of B-cells [Term] id: HP:0005366 name: Increased susceptibility to streptococcus pneumoniae infections namespace: medical_genetics is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0005367 name: Susceptibility to pyogenic infection namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005368 name: Defective humoral immunity namespace: medical_genetics is_a: HP:0002846 ! Abnormality of B-cells [Term] id: HP:0005369 name: Decreased serum complement factor H namespace: medical_genetics is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005371 name: Moderately severe immunodeficiency namespace: medical_genetics is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005372 name: Abnormal B cell function namespace: medical_genetics alt_id: HP:0005398 synonym: "Reduced B cell function" EXACT [] is_a: HP:0002846 ! Abnormality of B-cells [Term] id: HP:0005373 name: Immune defect due to a T cell deficit namespace: medical_genetics is_a: HP:0002843 ! Abnormality of T-cells [Term] id: HP:0005374 name: Cellular immunodeficiency namespace: medical_genetics is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005375 name: Partial cellular immunodeficiency namespace: medical_genetics is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005376 name: Increased susceptibility to haemophilus influenzae infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005378 name: Episodes of neisserial infection namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005379 name: Absent peripheral blood T cells namespace: medical_genetics is_a: HP:0005403 ! Reduced number of T cells [Term] id: HP:0005380 name: Frequent bacterial, fungal and viral infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections is_a: HP:0002841 ! Fungal infections, recurrent is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005381 name: Recurrent meningococcal disease namespace: medical_genetics alt_id: HP:0005414 def: "Recurrent infections by Neisseria meningitidis (one of the most common causes of bacterial meningitis), which is also known as meningococcus." [HPO:curators] synonym: "Increased susceptibility to neisseria meningitidis infections" EXACT [] is_a: HP:0005430 ! Recurrent neisserial infections [Term] id: HP:0005384 name: Defective B cell activation namespace: medical_genetics is_a: HP:0002846 ! Abnormality of B-cells [Term] id: HP:0005385 name: Severe IgM deficiency namespace: medical_genetics is_a: HP:0002850 ! Decreased IgM [Term] id: HP:0005386 name: Frequent bacterial, viral, protozoan, and fungal infections namespace: medical_genetics is_a: HP:0005380 ! Frequent bacterial, fungal and viral infections [Term] id: HP:0005387 name: Combined immunodeficiency namespace: medical_genetics is_a: HP:0002721 ! Immunodeficiency [Term] id: HP:0005388 name: Recurrent bacterial, viral, and fungal infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005389 name: Depletion of components of the alternative complement pathway namespace: medical_genetics is_a: HP:0005482 ! Abnormality of the alternate complement pathway [Term] id: HP:0005390 name: Frequent bacterial, viral, and opportunistic infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005391 name: Increased susceptibility to certain bacterial infections, especially neisseria meningitidis namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005392 name: Chronic candidiasis of mucosa, skin and nails namespace: medical_genetics is_a: HP:0002728 ! Chronic mucocutaneous candidiasis [Term] id: HP:0005393 name: Recurrent major bacterial infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005395 name: Recurrent local and systemic infections, esp gram-negative namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005396 name: Susceptibility to coronavirus 229e namespace: medical_genetics is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005397 name: Exaggerated cellular immune processes namespace: medical_genetics is_a: HP:0002843 ! Abnormality of T-cells [Term] id: HP:0005400 name: Markedly reduced neutrophil motility namespace: medical_genetics is_a: HP:0002715 ! Immunological abnormality [Term] id: HP:0005401 name: Frequent candida infections namespace: medical_genetics is_a: HP:0002841 ! Fungal infections, recurrent [Term] id: HP:0005402 name: Primary T-lymphocyte immune abnormalities namespace: medical_genetics is_a: HP:0002843 ! Abnormality of T-cells [Term] id: HP:0005403 name: Reduced number of T cells namespace: medical_genetics is_a: HP:0002843 ! Abnormality of T-cells [Term] id: HP:0005404 name: Increased number of B cells namespace: medical_genetics is_a: HP:0002846 ! Abnormality of B-cells [Term] id: HP:0005406 name: Recurrent bacterial skin infections namespace: medical_genetics synonym: "Recurrent pyogenic skin infections" EXACT [] is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005407 name: Decreased number of CD4+ T cells namespace: medical_genetics is_a: HP:0005480 ! Abnormality of CD4+ T cells [Term] id: HP:0005409 name: Markedly reduced T cell function namespace: medical_genetics is_a: HP:0005435 ! Impaired T cell function [Term] id: HP:0005410 name: Susceptibility to bacterial and viral infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005411 name: Chronic intestinal candidiasis namespace: medical_genetics is_a: HP:0002728 ! Chronic mucocutaneous candidiasis [Term] id: HP:0005412 name: Decreased numbers of circulating T cells namespace: medical_genetics is_a: HP:0005403 ! Reduced number of T cells [Term] id: HP:0005413 name: Increased alpha-globulins namespace: medical_genetics is_a: HP:0004314 ! Increased immunoglobulin levels [Term] id: HP:0005415 name: Decreased number of CD8+ T cells namespace: medical_genetics is_a: HP:0005481 ! Abnormality of CD8+ T cells [Term] id: HP:0005416 name: Decreased serum complement factor B namespace: medical_genetics synonym: "Decreased serum factor b" EXACT [] is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005418 name: Elevated serum IgE namespace: medical_genetics alt_id: HP:0005382 alt_id: HP:0005433 synonym: "Elevated immunoglobulin E" EXACT [] synonym: "High immunoglobulin E" EXACT [] is_a: HP:0004314 ! Increased immunoglobulin levels [Term] id: HP:0005419 name: Decreased T cell activation namespace: medical_genetics alt_id: HP:0005370 alt_id: HP:0005436 synonym: "Defective T cell activation" EXACT [] synonym: "Profound depletion of T4+ lymphocytes" EXACT [] is_a: HP:0002843 ! Abnormality of T-cells is_a: HP:0005407 ! Decreased number of CD4+ T cells [Term] id: HP:0005420 name: Recurrent staphylococcal and gram-negative infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005421 name: Decreased serum complement C3 namespace: medical_genetics alt_id: HP:0005408 synonym: "Decreased serum C3" EXACT [] is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0005422 name: Isolated absence of CD8+ T cells namespace: medical_genetics is_a: HP:0005481 ! Abnormality of CD8+ T cells [Term] id: HP:0005423 name: Dysfunctional alternative complement pathway namespace: medical_genetics is_a: HP:0005482 ! Abnormality of the alternate complement pathway [Term] id: HP:0005424 name: Absent specific antibody response namespace: medical_genetics is_a: HP:0002846 ! Abnormality of B-cells [Term] id: HP:0005425 name: Recurrent sinopulmonary infections namespace: medical_genetics synonym: "Chronic sinopulmonary infection" EXACT [] is_a: HP:0002873 ! Recurrent upper and lower respiratory tract infections [Term] id: HP:0005426 name: Frequent opportunistic infections namespace: medical_genetics is_a: HP:0002964 ! Susceptibility to infection [Term] id: HP:0005427 name: Lack of delayed skin hypersensitivity reaction namespace: medical_genetics synonym: "Absence of delayed hypersensitivity skin test" EXACT [] is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0005428 name: Severe recurrent varicella namespace: medical_genetics is_a: HP:0004429 ! Recurrent viral infections [Term] id: HP:0005429 name: Recurrent cutaneous and systemic pyogenic infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005430 name: Recurrent neisserial infections namespace: medical_genetics alt_id: HP:0005377 def: "Recurrent infections by bacteria of the genus Neisseria, including N. meningitidis (one of the most common causes of bacterial meningitis)." [HPO:curators] synonym: "Recurrent neisseria infections" EXACT [] is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0005432 name: Newborn gammaglobulin deficiency namespace: medical_genetics is_a: HP:0004315 ! Decreased IgG [Term] id: HP:0005434 name: Decreased reactivity to skin test antigens namespace: medical_genetics is_a: HP:0002963 ! Abnormal delayed hypersensitivity skin test [Term] id: HP:0005435 name: Impaired T cell function namespace: medical_genetics alt_id: HP:0005383 synonym: "T-cell dysfunction" EXACT [] is_a: HP:0002843 ! Abnormality of T-cells [Term] id: HP:0005437 name: Recurrent infections in infancy and early childhood namespace: medical_genetics is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0005439 name: Maxillozygomatic hypoplasia namespace: medical_genetics is_a: HP:0000327 ! Maxillary hypoplasia [Term] id: HP:0005440 name: Turridolichocephaly namespace: medical_genetics is_a: HP:0000268 ! Dolichocephaly [Term] id: HP:0005441 name: Sclerotic cranial sutures namespace: medical_genetics is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0005442 name: Widely patent coronal suture namespace: medical_genetics is_a: HP:0004492 ! Widely patent fontanels and sutures [Term] id: HP:0005444 name: Enlarged, flat sella turcica namespace: medical_genetics is_a: HP:0002690 ! Large sella turcica [Term] id: HP:0005445 name: Widened posterior fossa namespace: medical_genetics is_a: HP:0000932 ! Abnormality of the posterior fossa [Term] id: HP:0005446 name: Small mandible with obtuse angle namespace: medical_genetics is_a: HP:0000347 ! Mandibular hypoplasia [Term] id: HP:0005448 name: Premature closure of cranial sutures namespace: medical_genetics synonym: "Early fusion of cranial sutures" EXACT [] synonym: "Premature fontanel closure" EXACT [] is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0005449 name: Bridged sella turcica namespace: medical_genetics is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005450 name: Calvarial osteosclerosis namespace: medical_genetics def: "An increase in bone density affecting the calvaria (roof of the skull)." [HPO:curators] is_a: HP:0002796 ! Osteosclerosis [Term] id: HP:0005451 name: Decreased cranial base ossification namespace: medical_genetics is_a: HP:0004331 ! Decreased skull ossification [Term] id: HP:0005452 name: Obliteration of frontal sinuses namespace: medical_genetics is_a: HP:0002687 ! Abnormality of the frontal sinuses [Term] id: HP:0005453 name: Absent/hypoplastic paranasal sinuses namespace: medical_genetics is_a: HP:0002738 ! Hypoplastic frontal sinuses [Term] id: HP:0005454 name: Undermineralized calvarium namespace: medical_genetics alt_id: HP:0002702 synonym: "Poorly mineralized cranium" EXACT [] synonym: "Poorly mineralized skull" EXACT [] is_a: HP:0002683 ! Abnormality of the calvaria is_a: HP:0004331 ! Decreased skull ossification [Term] id: HP:0005455 name: Zygomatic arch hypoplasia namespace: medical_genetics alt_id: HP:0005443 synonym: "Hypoplastic zygomatic arch" EXACT [] is_a: HP:0005557 ! Abnormality of the zygomatic arch [Term] id: HP:0005456 name: Absent frontal and ethmoidal sinuses namespace: medical_genetics is_a: HP:0002688 ! Absent frontal sinuses [Term] id: HP:0005457 name: Craniosynostosis of coronal, lambdoid, and/or metopic sutures namespace: medical_genetics is_a: HP:0004440 ! Coronal craniosynostosis [Term] id: HP:0005458 name: Obliterated fontanelles namespace: medical_genetics is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0005459 name: Severe cloverleaf skull namespace: medical_genetics is_a: HP:0002676 ! Cloverleaf skull [Term] id: HP:0005461 name: Craniofacial disproportion namespace: medical_genetics is_a: HP:0002260 ! Craniofacial dysmorphism [Term] id: HP:0005462 name: Calcification of falx cerebri namespace: medical_genetics is_a: HP:0002514 ! Cerebral calcifications [Term] id: HP:0005463 name: Elongated sella turcica namespace: medical_genetics is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005464 name: Craniofacial hyperostosis and sclerosis namespace: medical_genetics is_a: HP:0004493 ! Craniofacial hyperostosis [Term] id: HP:0005465 name: Hyperostosis of facial bones namespace: medical_genetics alt_id: HP:0008508 synonym: "Facial hyperostosis" EXACT [] is_a: HP:0004493 ! Craniofacial hyperostosis [Term] id: HP:0005466 name: Hypoplastic frontal bones namespace: medical_genetics alt_id: HP:0005493 synonym: "Frontal bone hypoplasia" EXACT [] is_a: HP:0002648 ! Abnormality of skull shape is_a: HP:0002692 ! Hypoplastic facial bones [Term] id: HP:0005467 name: Occasional craniosynostosis namespace: medical_genetics is_a: HP:0001363 ! Craniosynostosis [Term] id: HP:0005468 name: Foramen magnum stenosis namespace: medical_genetics is_a: HP:0002677 ! Small foramen magnum [Term] id: HP:0005469 name: Posterior plagiocephaly namespace: medical_genetics is_a: HP:0001357 ! Plagiocephaly [Term] id: HP:0005470 name: Ipsilateral mandibular hypoplasia namespace: medical_genetics is_a: HP:0000347 ! Mandibular hypoplasia [Term] id: HP:0005472 name: Orbital craniosynostosis namespace: medical_genetics is_a: HP:0001363 ! Craniosynostosis [Term] id: HP:0005473 name: Fusion of middle ear ossicles namespace: medical_genetics is_a: HP:0004452 ! abnormal middle ear ossicles [Term] id: HP:0005474 name: Poorly ossified calvaria namespace: medical_genetics alt_id: HP:0005471 synonym: "Poorly ossified calvarium" EXACT [] is_a: HP:0003780 ! Poorly ossified skull [Term] id: HP:0005475 name: Absent of small frontal sinus namespace: medical_genetics is_a: HP:0002688 ! Absent frontal sinuses [Term] id: HP:0005476 name: Widely patent sagittal suture namespace: medical_genetics is_a: HP:0004492 ! Widely patent fontanels and sutures [Term] id: HP:0005477 name: Progressive sclerosis of skull base namespace: medical_genetics is_a: HP:0002694 ! Sclerotic skull base [Term] id: HP:0005478 name: Prominent frontal sinuses namespace: medical_genetics is_a: HP:0002687 ! Abnormality of the frontal sinuses [Term] id: HP:0005479 name: Decreased IgE namespace: medical_genetics is_a: HP:0004313 ! Reduced immunoglobulin levels created_by: peter creation_date: 2008-03-26T08:03:00Z [Term] id: HP:0005480 name: Abnormality of CD4+ T cells namespace: medical_genetics is_a: HP:0002843 ! Abnormality of T-cells created_by: peter creation_date: 2008-03-26T08:09:00Z [Term] id: HP:0005481 name: Abnormality of CD8+ T cells namespace: medical_genetics is_a: HP:0002843 ! Abnormality of T-cells created_by: peter creation_date: 2008-03-26T08:09:00Z [Term] id: HP:0005482 name: Abnormality of the alternate complement pathway namespace: medical_genetics is_a: HP:0005339 ! Abnormality of complement created_by: peter creation_date: 2008-03-26T08:12:00Z [Term] id: HP:0005483 name: Abnormality of the epiglottis namespace: medical_genetics is_a: HP:0002087 ! Abnormality of the airways created_by: peter creation_date: 2008-03-26T08:25:00Z [Term] id: HP:0005484 name: Microcephaly, postnatal namespace: medical_genetics alt_id: HP:0005499 synonym: "Postnatal microcephaly" EXACT [] is_a: HP:0000252 ! Microcephaly [Term] id: HP:0005486 name: Small fontanelles namespace: medical_genetics is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures [Term] id: HP:0005487 name: Prominent metopic suture namespace: medical_genetics alt_id: HP:0005488 def: "A prominent persistent frontal suture (metopic suture)." [HPO:curators] synonym: "Prominent metopic sutures" EXACT [] is_a: HP:0005556 ! Abnormality of the metopic suture [Term] id: HP:0005490 name: Macrocephaly, postnatal namespace: medical_genetics is_a: HP:0000256 ! Macrocephaly [Term] id: HP:0005494 name: Premature posterior fontanelle closure namespace: medical_genetics is_a: HP:0005448 ! Premature closure of cranial sutures [Term] id: HP:0005495 name: Metopic suture extends to nasal root namespace: medical_genetics is_a: HP:0005556 ! Abnormality of the metopic suture [Term] id: HP:0005498 name: Midline skin dimples over anterior/posterior fontanelles namespace: medical_genetics is_a: HP:0000236 ! Abnormality of the anterior fontanelle [Term] id: HP:0005500 name: Total kininogen deficiency namespace: medical_genetics is_a: HP:0005559 ! Abnormality of the kinin-kallikrein system [Term] id: HP:0005501 name: Anemia, dyserythropoietic namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0005502 name: Increased red cell osmotic fragility namespace: medical_genetics synonym: "Increased erythrocyte osmotic fragility" EXACT [] synonym: "Increased red cell fragility," EXACT [] is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0005503 name: Increased hemolysis namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005504 name: Defective erythropoiesis namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0005505 name: Refractory anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0005506 name: Chronic myelogenous leukemia namespace: medical_genetics is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0005507 name: Alpha-thalassemia with microcytosis namespace: medical_genetics is_a: HP:0005560 ! Thalassemia [Term] id: HP:0005508 name: Waldenstrom macroglobulinemia namespace: medical_genetics comment: Waldenstrom macroglobulinemia is a lymphoproliferative disease associated with the presence of an IgM monoclonal protein. is_a: HP:0001909 ! Leukemia [Term] id: HP:0005509 name: Moderate-severe anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0005510 name: Transient erythroblastopenia namespace: medical_genetics is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0005511 name: Congenital heinz body anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0005512 name: Impaired neutrophil killing of staphylococci namespace: medical_genetics is_a: HP:0001874 ! Abnormality of neutrophil [Term] id: HP:0005513 name: Increased megakaryocyte precursor cells namespace: medical_genetics is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0005514 name: Decreased coagulation factors IX, XI, XII namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0005515 name: Persistent or intermittent neutropenia namespace: medical_genetics is_a: HP:0001875 ! Neutropenia [Term] id: HP:0005516 name: Myelodysplasia and acute myelogenous leukemia namespace: medical_genetics is_a: HP:0001909 ! Leukemia [Term] id: HP:0005517 name: T-cell lymphoma/leukemia namespace: medical_genetics is_a: HP:0001909 ! Leukemia [Term] id: HP:0005518 name: Erythrocyte macrocytosis namespace: medical_genetics alt_id: HP:0005536 synonym: "Increased mean corpuscular volume" EXACT [] is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0005519 name: Myeloid cell leukemia 1 namespace: medical_genetics is_a: HP:0001909 ! Leukemia [Term] id: HP:0005520 name: Chronic consumption coagulopathy namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0005521 name: Disseminated intravascular coagulation namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0005522 name: Anemia, pyridoxine-responsive namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0005523 name: Lymphoproliferative disorder namespace: medical_genetics is_a: HP:0001909 ! Leukemia [Term] id: HP:0005524 name: Macrocytic hemolytic disease namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005525 name: Spontaneous hemolytic crises namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005526 name: Lymphoid leukemia namespace: medical_genetics is_a: HP:0001909 ! Leukemia [Term] id: HP:0005527 name: Kininogen deficiency namespace: medical_genetics is_a: HP:0005559 ! Abnormality of the kinin-kallikrein system [Term] id: HP:0005528 name: Bone marrow hypoplasia namespace: medical_genetics alt_id: HP:0005529 synonym: "Hypoplastic bone marrow" EXACT [] is_a: HP:0005561 ! Generalized abnormality of the bone marrow [Term] id: HP:0005530 name: High molecular weight kininogen deficiency namespace: medical_genetics alt_id: HP:0005538 synonym: "Fitzgerald factor deficiency" EXACT [] is_a: HP:0005559 ! Abnormality of the kinin-kallikrein system [Term] id: HP:0005531 name: Myeloid/lymphoid leukemia namespace: medical_genetics is_a: HP:0001909 ! Leukemia [Term] id: HP:0005532 name: Macrocytic dyserythropoietic anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0005533 name: Peripheral neutropenia namespace: medical_genetics is_a: HP:0001875 ! Neutropenia [Term] id: HP:0005534 name: Transient myeloproliferative syndrome namespace: medical_genetics is_a: HP:0001909 ! Leukemia [Term] id: HP:0005535 name: Exercise-induced hemolysis namespace: medical_genetics is_a: HP:0001878 ! Hemolytic anemia [Term] id: HP:0005537 name: Decreased mean platelet volume namespace: medical_genetics alt_id: HP:0001938 synonym: "Small platelet size" EXACT [] synonym: "Small platelets" EXACT [] synonym: "Small platelets size" EXACT [] is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0005539 name: T-cell chronic lymphocytic lymphoma/leukemia namespace: medical_genetics is_a: HP:0001909 ! Leukemia [Term] id: HP:0005540 name: Distorted red blood cells resembling keratocytes namespace: medical_genetics is_a: HP:0004447 ! Poikilocytosis [Term] id: HP:0005541 name: Congenital agranulocytosis namespace: medical_genetics is_a: HP:0001911 ! Abnormality of granulocytes [Term] id: HP:0005542 name: Whole-blood clotting time prolonged namespace: medical_genetics synonym: "Prolonged clotting time" EXACT [] is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0005543 name: Protein C deficiency namespace: medical_genetics synonym: "Plasma protein c deficiency" EXACT [] is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0005544 name: Familial chronic myelocytic leukemia-like syndrome namespace: medical_genetics is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0005545 name: Congenital dyserythropoietic anemia namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0005546 name: Increased red cell osmotic resistance namespace: medical_genetics is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0005547 name: Myeloproliferative disorder namespace: medical_genetics is_a: HP:0001909 ! Leukemia [Term] id: HP:0005548 name: Megakaryocytopenia namespace: medical_genetics is_a: HP:0001872 ! Abnormality of thrombocytes [Term] id: HP:0005549 name: Severe congenital neutropenia namespace: medical_genetics is_a: HP:0001875 ! Neutropenia [Term] id: HP:0005550 name: Chronic lymphatic leukemia namespace: medical_genetics is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0005553 name: Ineffective erythropoiesis namespace: medical_genetics is_a: HP:0001903 ! Anemia [Term] id: HP:0005555 name: Acute lymphoid leukemia namespace: medical_genetics is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0005556 name: Abnormality of the metopic suture namespace: medical_genetics def: "The frontal suture divides the two halves of the frontal bone of the skull in infants and children and generally undergoes fusion by the age of six. A persistent frontal suture is referred to as a \"metopic suture\"." [HPO:curators] is_a: HP:0000235 ! Abnormality of the fontanelles and cranial sutures created_by: peter creation_date: 2008-03-27T10:04:00Z [Term] id: HP:0005557 name: Abnormality of the zygomatic arch namespace: medical_genetics is_a: HP:0000309 ! Abnormality of the midface created_by: peter creation_date: 2008-03-27T10:20:00Z [Term] id: HP:0005558 name: Chronic leukemia namespace: medical_genetics is_a: HP:0001909 ! Leukemia created_by: peter creation_date: 2008-03-27T10:32:00Z [Term] id: HP:0005559 name: Abnormality of the kinin-kallikrein system namespace: medical_genetics is_a: HP:0001871 ! Hematological abnormality created_by: peter creation_date: 2008-03-27T10:34:00Z [Term] id: HP:0005560 name: Thalassemia namespace: medical_genetics is_a: HP:0001903 ! Anemia created_by: peter creation_date: 2008-03-27T10:44:00Z [Term] id: HP:0005561 name: Generalized abnormality of the bone marrow namespace: medical_genetics is_a: HP:0001871 ! Hematological abnormality created_by: peter creation_date: 2008-03-27T10:46:00Z [Term] id: HP:0005562 name: Multiple renal cysts namespace: medical_genetics is_a: HP:0000107 ! Renal cysts [Term] id: HP:0005563 name: Decreased numbers of glomeruli namespace: medical_genetics is_a: HP:0000095 ! Morphological abnormalities of the glomeruli [Term] id: HP:0005564 name: Absence of corticomedullary differentiation namespace: medical_genetics alt_id: HP:0005581 synonym: "Loss of corticomedullary differentiation" EXACT [] is_a: HP:0005932 ! Abnormal corticomedullary differentiation [Term] id: HP:0005565 name: Absent/poor corticomedullary differentiation namespace: medical_genetics is_a: HP:0005932 ! Abnormal corticomedullary differentiation [Term] id: HP:0005567 name: Renal magnesium wasting namespace: medical_genetics is_a: HP:0000082 ! Renal functional abnormality [Term] id: HP:0005568 name: Urine concentration defect namespace: medical_genetics synonym: "Urine concentrating defect" EXACT [] is_a: HP:0000082 ! Renal functional abnormality [Term] id: HP:0005569 name: Medullary cystic disease namespace: medical_genetics is_a: HP:0000107 ! Renal cysts [Term] id: HP:0005570 name: Renal failure by age 3 namespace: medical_genetics is_a: HP:0003774 ! End stage renal disease [Term] id: HP:0005571 name: Increased renal tubular phosphate reabsorption namespace: medical_genetics synonym: "Increased percent tubular reabsorption of phosphorus" EXACT [] is_a: HP:0000082 ! Renal functional abnormality [Term] id: HP:0005572 name: Decreased renal tubular phosphate excretion namespace: medical_genetics is_a: HP:0000082 ! Renal functional abnormality [Term] id: HP:0005573 name: Loss of definition of corticomedullary differentiation namespace: medical_genetics is_a: HP:0005932 ! Abnormal corticomedullary differentiation [Term] id: HP:0005574 name: Non-acidotic proximal tubulopathy namespace: medical_genetics is_a: HP:0000114 ! Proximal renal tubule defect [Term] id: HP:0005575 name: Hemolytic-uremic syndrome namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0005576 name: Tubulointerstitial fibrosis namespace: medical_genetics is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0005577 name: Disintegration of the tubular basement membrane namespace: medical_genetics is_a: HP:0000091 ! Abnormality of the renal tubules [Term] id: HP:0005578 name: Renal tubular cell atrophy with corticomedullary cysts namespace: medical_genetics is_a: HP:0000092 ! Tubular atrophy [Term] id: HP:0005579 name: Impaired reabsorption of chloride namespace: medical_genetics is_a: HP:0000082 ! Renal functional abnormality [Term] id: HP:0005580 name: Duplication of renal pelvis namespace: medical_genetics is_a: HP:0000075 ! Renal duplication [Term] id: HP:0005582 name: Tubulointerstitial medullary cystic kidney disease namespace: medical_genetics is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0005583 name: Tubular basement membrane disintegration namespace: medical_genetics is_a: HP:0000091 ! Abnormality of the renal tubules [Term] id: HP:0005584 name: Renal cell carcinoma namespace: medical_genetics alt_id: HP:0006720 def: "Renal cell carcinoma (also known as hypernephroma) is the most common form of kidney cancer arising from the proximal renal tubule. The tissue of origin for renal cell carcinoma is the proximal renal tubular epithelium. Renal cell carcinoma can be classified as 1) clear cell carcinoma, 2) papillary carcinoma, 3) chromophobe renal carcinoma, and 4) collecting duct carcinoma." [HPO:curators] synonym: "Hypernephroma" EXACT [] synonym: "Renal carcinoma" EXACT [] is_a: HP:0005933 ! Kidney cancer [Term] id: HP:0005585 name: Spotty hyperpigmentation namespace: medical_genetics synonym: "Patchy depigmentation" EXACT [] synonym: "Patchy hyperpigmentation" EXACT [] is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0005586 name: Hyperpigmentation in sun-exposed areas namespace: medical_genetics synonym: "Hyperpigmentation of exposed areas" EXACT [] is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0005587 name: Profuse pigmented skin lesions namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0005588 name: Palmoplantar keratoderma, patchy namespace: medical_genetics is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0005589 name: Mild/severe skin hypopigmentation namespace: medical_genetics is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0005590 name: Spotty hypopigmentation namespace: medical_genetics synonym: "Patchy hypopigmentation" EXACT [] is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0005592 name: Giant melanosomes in melanocytes namespace: medical_genetics is_a: HP:0001008 ! Accumulation of melanosomes in melanocytes [Term] id: HP:0005593 name: Macular hypopigmented whorls, streaks, and patches namespace: medical_genetics is_a: HP:0001053 ! Hypopigmented skin patches [Term] id: HP:0005594 name: Photosensitive skin rashes namespace: medical_genetics is_a: HP:0000992 ! Photosensitivity [Term] id: HP:0005595 name: Hyperkeratosis, generalized namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0005596 name: Moderate to severe acne namespace: medical_genetics is_a: HP:0001061 ! Acne [Term] id: HP:0005597 name: Congenital alopecia totalis namespace: medical_genetics is_a: HP:0001596 ! Alopecia [Term] id: HP:0005598 name: Facial telangiectasia in butterfly midface distribution namespace: medical_genetics def: "Telangiectases (small dilated blood vessels) located near the surface of the skin in a butterfly midface distribution." [HPO:curators] synonym: "Butterfly facial telangiectasia" EXACT [] is_a: HP:0007380 ! Facial telangiectatic vessels [Term] id: HP:0005599 name: Hair hypopigmentation namespace: medical_genetics is_a: HP:0001595 ! Hair abnormality [Term] id: HP:0005600 name: Giant pigmented hairy nevus, often in lumbosacral distribution namespace: medical_genetics is_a: HP:0003764 ! Abnormal or excess nevi [Term] id: HP:0005601 name: Occasional cafe-au-lait spots namespace: medical_genetics is_a: HP:0000957 ! Cafe-au-lait spots [Term] id: HP:0005602 name: Progressive vitiligo namespace: medical_genetics is_a: HP:0001045 ! Vitiligo [Term] id: HP:0005603 name: Numerous congenital melanocytic nevi namespace: medical_genetics is_a: HP:0000995 ! Pigmented nevi [Term] id: HP:0005604 name: Giant pigmented nevi, often in lumbosacral distribution namespace: medical_genetics is_a: HP:0000995 ! Pigmented nevi [Term] id: HP:0005605 name: Large cafe au lait spots within irregular margins namespace: medical_genetics is_a: HP:0000957 ! Cafe-au-lait spots [Term] id: HP:0005606 name: Hyperpigmented nevi and streak namespace: medical_genetics is_a: HP:0000995 ! Pigmented nevi [Term] id: HP:0005607 name: Abnormality of the tracheobronchial system namespace: medical_genetics alt_id: HP:0005940 synonym: "Tracheobronchial anomalies" EXACT [] is_a: HP:0002087 ! Abnormality of the airways created_by: peter creation_date: 2008-03-28T09:03:00Z [Term] id: HP:0005608 name: Bilobate gallbladder namespace: medical_genetics is_a: HP:0005264 ! Abnormality of the gallbladder [Term] id: HP:0005609 name: Gallbladder dysfunction namespace: medical_genetics is_a: HP:0004393 ! Liver dysfunction [Term] id: HP:0005610 name: Hypoplastic big toes namespace: medical_genetics is_a: HP:0004701 ! Hypoplastic toes [Term] id: HP:0005611 name: Craniodiaphyseal osteosclerosis namespace: medical_genetics is_a: HP:0003034 ! Diaphyseal sclerosis [Term] id: HP:0005612 name: Arthrogryposis-like hand anomaly namespace: medical_genetics is_a: HP:0001390 ! Arthrogryposis [Term] id: HP:0005613 name: Aplasia/hypoplasia of the femur namespace: medical_genetics alt_id: HP:0006396 alt_id: HP:0006425 synonym: "Hypoplastic to absent femora" EXACT [] synonym: "Hypoplastic/aplastic femora" EXACT [] is_a: HP:0002823 ! Abnormality of the femora is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs [Term] id: HP:0005615 name: Short bifid distal phalanges of thumbs and big toes namespace: medical_genetics is_a: HP:0001853 ! Bifid terminal phalanges (feet) [Term] id: HP:0005616 name: Accelerated skeletal maturation namespace: medical_genetics alt_id: HP:0002649 alt_id: HP:0005854 synonym: "Advanced bone age" EXACT [] synonym: "Early bone maturation" EXACT [] is_a: HP:0000927 ! Abnormality of skeletal maturation [Term] id: HP:0005617 name: Bilateral camptodactyly namespace: medical_genetics is_a: HP:0009472 ! Joint contractures of the fingers [Term] id: HP:0005618 name: Asymmetric leg shortening namespace: medical_genetics synonym: "Asymmetric lower limb shortness" EXACT [] is_a: HP:0005091 ! asymmetric limb shortening [Term] id: HP:0005619 name: Thoracolumbar kyphosis namespace: medical_genetics is_a: HP:0002942 ! Thoracic kyphosis [Term] id: HP:0005620 name: Hypermobility of interphalangeal joints namespace: medical_genetics is_a: HP:0001382 ! Increased mobility of joints [Term] id: HP:0005621 name: Trapezoidal shaped vertebral bodies namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0005622 name: Widened long bones with translucent metaphyseal flaring namespace: medical_genetics is_a: HP:0003047 ! Metaphyseal flaring of long bones [Term] id: HP:0005623 name: Absent ossification of skull vault namespace: medical_genetics is_a: HP:0004331 ! Decreased skull ossification [Term] id: HP:0005624 name: Short second and third or third and fourth metacarpals namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0005625 name: Osteoporosis of vertebrae namespace: medical_genetics def: "Osteoporosis affecting predominantly the vertebrae." [HPO:curators] is_a: HP:0000939 ! Osteoporosis [Term] id: HP:0005626 name: Posterior fusion of lumbosacral vertebrae namespace: medical_genetics is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0005627 name: Type D brachydactyly namespace: medical_genetics synonym: "Brachydactyly type D" EXACT [] is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005628 name: Short fourth toe proximal phalanx namespace: medical_genetics is_a: HP:0001767 ! Short toes [Term] id: HP:0005630 name: Microbrachydactyly namespace: medical_genetics is_a: HP:0001201 ! Severe brachydactyly [Term] id: HP:0005631 name: Limb contractures, severe namespace: medical_genetics is_a: HP:0003121 ! Limb contractures [Term] id: HP:0005632 name: Absent forearm namespace: medical_genetics is_a: HP:0003953 ! Absent ossification/absent forearm bones [Term] id: HP:0005633 name: Spontaneous fracture namespace: medical_genetics is_a: HP:0005931 ! Abnormal susceptibility to fractures [Term] id: HP:0005635 name: Aplasia/Hypoplasia of the distal phalanges namespace: medical_genetics alt_id: HP:0006037 alt_id: HP:0006066 alt_id: HP:0006235 def: "Absence or underdevelopment of the distal phalanges." [HPO:curators] synonym: "Absent/hypoplastic distal phalanges" EXACT [] synonym: "Aplastic/hypoplastic distal phalanges" EXACT [] synonym: "Hypoplastic to absent terminal phalanges" EXACT [] synonym: "Hypoplastic/aplastic distal phalanges" EXACT [] synonym: "Hypoplastic/aplastic distal phalanx" EXACT [] is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers [Term] id: HP:0005636 name: Generalized metaphyseal skeletal dysplasia namespace: medical_genetics is_a: HP:0000948 ! Metaphyseal dysplasia [Term] id: HP:0005637 name: Cutaneous syndactyly namespace: medical_genetics alt_id: HP:0001214 synonym: "Syndactyly, cutaneous" EXACT [] is_a: HP:0001159 ! Syndactyly [Term] id: HP:0005638 name: Decreased anterioposterior diameter of lumbar vertebral bodies namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0005639 name: Hyperextensible hand joints namespace: medical_genetics is_a: HP:0001378 ! Hyperextensible joints [Term] id: HP:0005640 name: Abnormal vertebral segmentation and fusion namespace: medical_genetics is_a: HP:0003422 ! Vertebral segmentation defects [Term] id: HP:0005641 name: Flattened cervical vertebral bodies namespace: medical_genetics is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005642 name: Syndactyly toes 2-4 namespace: medical_genetics is_a: HP:0004691 ! 2-3 toe syndactyly [Term] id: HP:0005643 name: Brachydactyly of index fingers and third toes namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005644 name: Moderate platyspondyly namespace: medical_genetics is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005645 name: Multiple intervertebral disk calcifications namespace: medical_genetics is_a: HP:0005108 ! Abnormality of the intervertebral disks [Term] id: HP:0005646 name: Severely adducted thumbs namespace: medical_genetics is_a: HP:0001181 ! Adducted thumbs [Term] id: HP:0005647 name: Shortened bowed long bones namespace: medical_genetics is_a: HP:0004988 ! shortened long tubular bones [Term] id: HP:0005648 name: Bilateral symmetrical ulnar hypoplasia namespace: medical_genetics is_a: HP:0003022 ! Ulnar hypoplasia [Term] id: HP:0005649 name: Very short fifth finger middle phalanx namespace: medical_genetics is_a: HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger [Term] id: HP:0005650 name: Cutaneous syndactyly between fingers 2 and 5 namespace: medical_genetics is_a: HP:0005637 ! Cutaneous syndactyly [Term] id: HP:0005651 name: Flexion contractures of fingers and toes namespace: medical_genetics is_a: HP:0001372 ! Joint contractures [Term] id: HP:0005652 name: Cortical sclerosis namespace: medical_genetics def: "Sclerosis (abnormal hardening) of cortical bone, characterized by increased radiodensity." [HPO:curators] is_a: HP:0003103 ! Abnormality of cortical bone [Term] id: HP:0005653 name: Moderate generalized osteoporosis namespace: medical_genetics def: "Moderate osteoporosis." [HPO:curators] is_a: HP:0000939 ! Osteoporosis [Term] id: HP:0005654 name: Contractures of elbow and hip namespace: medical_genetics is_a: HP:0002987 ! Elbow contractures [Term] id: HP:0005655 name: Multiple exostoses, esp digits namespace: medical_genetics is_a: HP:0002762 ! Multiple exostoses [Term] id: HP:0005656 name: Positional foot deformities namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0005657 name: Symmetric brachydactyly namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005658 name: Distal and middle phalangeal hypoplasia namespace: medical_genetics is_a: HP:0001202 ! Hypoplastic distal phalanges [Term] id: HP:0005659 name: Thoracic kyphoscoliosis namespace: medical_genetics is_a: HP:0002943 ! Thoracic scoliosis [Term] id: HP:0005660 name: Joint contractures, onset school age namespace: medical_genetics is_a: HP:0001372 ! Joint contractures [Term] id: HP:0005661 name: Salmonella osteomyelitis namespace: medical_genetics is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0005662 name: Partial camptodactyly namespace: medical_genetics is_a: HP:0009472 ! Joint contractures of the fingers [Term] id: HP:0005663 name: Arthrogryposis may occur namespace: medical_genetics is_a: HP:0001390 ! Arthrogryposis [Term] id: HP:0005664 name: Anterior tongue-like protrusion of lumbar vertebral bodies namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0005665 name: Massively thickened long bone cortices namespace: medical_genetics def: "Extreme thickening of the cortex of long bones." [HPO:curators] is_a: HP:0000935 ! Thickened cortex of long bones [Term] id: HP:0005666 name: Carpal and tarsal fusions namespace: medical_genetics is_a: HP:0008368 ! Synostosis involving tarsal bones [Term] id: HP:0005667 name: Osodontoideum and atlanto-axial instability namespace: medical_genetics is_a: HP:0003467 ! Atlantoaxial instability [Term] id: HP:0005668 name: Proximally displaced small thumbs namespace: medical_genetics is_a: HP:0009623 ! Proximally placed 1st finger [Term] id: HP:0005669 name: Short, spear-shaped terminal phalanges namespace: medical_genetics is_a: HP:0001198 ! Short distal phalanges [Term] id: HP:0005670 name: Major shortening in proximal phalanges namespace: medical_genetics is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand [Term] id: HP:0005671 name: Bilateral intracranial calcifications namespace: medical_genetics is_a: HP:0002514 ! Cerebral calcifications [Term] id: HP:0005673 name: Congenital radial head dislocation namespace: medical_genetics is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005674 name: Metacarpophalangeal camptodactyly namespace: medical_genetics is_a: HP:0009472 ! Joint contractures of the fingers [Term] id: HP:0005675 name: Fusion of carpal and tarsal bones namespace: medical_genetics alt_id: HP:0005823 def: "The carpus consists of the scaphoid, lunate, triquetal, pisiform, captitate, hamate, trapezoid, and trapezium bones. The tarsus consists of the talus, calcaneus, navicular, cuboid, cuneiform, and navicular bones. This term applies if there is any fusion among the bones of the carpus or tarsus." [HPO:curators] synonym: "Coalescence of carpal and tarsal bones" EXACT [] is_a: HP:0009702 ! Synostosis involving the carpal bones [Term] id: HP:0005676 name: Rudimentary postaxial polydactyly of hands namespace: medical_genetics is_a: HP:0001162 ! Postaxial polydactyly [Term] id: HP:0005677 name: Partial clino-/syndactyly of toes namespace: medical_genetics is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0005678 name: Anterior atlanto-occipital dislocation namespace: medical_genetics is_a: HP:0003414 ! Atlantoaxial dislocation [Term] id: HP:0005679 name: Dupuytren contractures namespace: medical_genetics is_a: HP:0001371 ! Contractures [Term] id: HP:0005680 name: Tongue-like lumbar vertebral deformities namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0005681 name: Rheumatoid arthritis, juvenile namespace: medical_genetics is_a: HP:0001370 ! Rheumatoid arthritis [Term] id: HP:0005682 name: Talocalcaneal synostosis namespace: medical_genetics is_a: HP:0008368 ! Synostosis involving tarsal bones [Term] id: HP:0005683 name: Cerebral and olivopontocerebellar atrophy namespace: medical_genetics is_a: HP:0002542 ! Olivopontocerebellar atrophy [Term] id: HP:0005684 name: Distal arthrogryposis namespace: medical_genetics is_a: HP:0001390 ! Arthrogryposis [Term] id: HP:0005685 name: Severe skeletal dysplasia namespace: medical_genetics is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0005686 name: Patchy osteosclerosis namespace: medical_genetics def: "Patchy (irregular) increase in bone density." [HPO:curators] is_a: HP:0002796 ! Osteosclerosis [Term] id: HP:0005687 name: Deformed humeral heads namespace: medical_genetics is_a: HP:0003871 ! Deformed humerus [Term] id: HP:0005688 name: Dysplastic distal thumb phalanges with a central hole namespace: medical_genetics is_a: HP:0009650 ! Hypoplastic/small distal phalanx of the 1st finger [Term] id: HP:0005689 name: Dermatoglyphic ridges abnormal namespace: medical_genetics is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005690 name: Hypo/aplastic vermis namespace: medical_genetics is_a: HP:0001320 ! Cerebellar vermis hypoplasia [Term] id: HP:0005691 name: Dilated ventricles by air encephalography namespace: medical_genetics is_a: HP:0002447 ! Enlarged ventricles [Term] id: HP:0005692 name: Joint hyperflexibility namespace: medical_genetics is_a: HP:0001382 ! Increased mobility of joints [Term] id: HP:0005693 name: Disproportionately tall vertebral bodies namespace: medical_genetics synonym: "Tall vertebral bodies" EXACT [] is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0005694 name: Partial fusion of proximal row of carpal bones namespace: medical_genetics is_a: HP:0009702 ! Synostosis involving the carpal bones [Term] id: HP:0005695 name: Metacarpal hypoplasia namespace: medical_genetics alt_id: HP:0001164 alt_id: HP:0006183 synonym: "Hypoplastic metacarpal" EXACT [] synonym: "Short metacarpal" EXACT [] synonym: "Short metacarpals" EXACT [] synonym: "Shortened metacarpals" EXACT [] is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones [Term] id: HP:0005696 name: Postaxial polydactyly type a namespace: medical_genetics is_a: HP:0001162 ! Postaxial polydactyly [Term] id: HP:0005699 name: Mildly hypoplastic thumb namespace: medical_genetics is_a: HP:0009778 ! Hypoplastic/small 1st finger [Term] id: HP:0005700 name: Increased bone density with cystic changes namespace: medical_genetics is_a: HP:0004350 ! Increased bone mineral density [Term] id: HP:0005701 name: Multiple enchondromatosis namespace: medical_genetics is_a: HP:0002763 ! Abnormality of cartilage [Term] id: HP:0005704 name: Metaphyseal dysplasia with massive calcific deposits namespace: medical_genetics is_a: HP:0000948 ! Metaphyseal dysplasia [Term] id: HP:0005705 name: Severe vertebral segmentation defects namespace: medical_genetics is_a: HP:0003422 ! Vertebral segmentation defects [Term] id: HP:0005706 name: Short middle phalanx of fingers 2 and 5 namespace: medical_genetics alt_id: HP:0005734 synonym: "Brachymesophalangy affecting mainly the 2nd and 5th digits" EXACT [] is_a: HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger [Term] id: HP:0005707 name: Bilateral digitalized thumbs namespace: medical_genetics synonym: "Digitalized thumb" EXACT [] is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005708 name: Syndactyly of toes 2, 3 and 4 namespace: medical_genetics is_a: HP:0004691 ! 2-3 toe syndactyly [Term] id: HP:0005709 name: Cutaneous syndactyly of fingers 3 and 4 and toes 2 and 3 namespace: medical_genetics is_a: HP:0008086 ! Cutaneous 2,3 toe syndactyly [Term] id: HP:0005711 name: Generalized osteosclerosis namespace: medical_genetics def: "Generalized increase in bone density (as opposed to localized osteosclerosis of individual bones or portions of bones, which can be seen following some types of injury, with osteoarthritis, or osteoma)." [HPO:curators] is_a: HP:0002796 ! Osteosclerosis [Term] id: HP:0005712 name: Corpus callosum atrophy namespace: medical_genetics synonym: "Atrophic corpus callosum" EXACT [] synonym: "Atrophy of the corpus callosum" EXACT [] is_a: HP:0007371 ! Atrophy/Degeneration of the corpus callosum [Term] id: HP:0005714 name: Bilateral hypoplasia of radius and ulna namespace: medical_genetics is_a: HP:0002984 ! Hypoplastic radius [Term] id: HP:0005715 name: Flattened knee epiphyses namespace: medical_genetics is_a: HP:0003071 ! Flattened epiphyses [Term] id: HP:0005716 name: Lethal skeletal dysplasia namespace: medical_genetics is_a: HP:0002652 ! Skeletal dysplasia [Term] id: HP:0005717 name: Short stubby metacarpals and phalanges namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0005718 name: Radial aplasia/hypoplasia namespace: medical_genetics is_a: HP:0002984 ! Hypoplastic radius [Term] id: HP:0005719 name: Mild vertebral anomalies namespace: medical_genetics is_a: HP:0003468 ! Abnormalities of the vertebrae [Term] id: HP:0005720 name: Shortening of all phalanges and metacarpals namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0005721 name: Thenar and hypothenar hypoplasia namespace: medical_genetics is_a: HP:0001245 ! Thenar hypoplasia [Term] id: HP:0005722 name: Hyperextensible thumb namespace: medical_genetics is_a: HP:0001378 ! Hyperextensible joints [Term] id: HP:0005723 name: Shoe-shaped sella turcica namespace: medical_genetics is_a: HP:0002681 ! Deformed sella turcica [Term] id: HP:0005724 name: Hypoplasia of inferior vermis and cerebellum namespace: medical_genetics is_a: HP:0001320 ! Cerebellar vermis hypoplasia [Term] id: HP:0005725 name: Nonopposable triphalangeal thumbs namespace: medical_genetics is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005726 name: Thumbs hypoplastic with bulbous tips namespace: medical_genetics is_a: HP:0009778 ! Hypoplastic/small 1st finger [Term] id: HP:0005727 name: Brachydactyly of hands and feet namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005728 name: Slight kyphoscoliosis namespace: medical_genetics is_a: HP:0002751 ! Kyphoscoliosis [Term] id: HP:0005730 name: Small epiphyses namespace: medical_genetics is_a: HP:0005930 ! Abnormality of the epiphyses [Term] id: HP:0005731 name: Cortical irregularity namespace: medical_genetics is_a: HP:0003103 ! Abnormality of cortical bone [Term] id: HP:0005732 name: Reduced sagittal diameter and anterior beaking of vertebrae namespace: medical_genetics is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0005733 name: Narrowed spinal canal with reduced interpedicular distance namespace: medical_genetics is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0005735 name: Hypoplasia/agenesis of distal phalanges of toes namespace: medical_genetics is_a: HP:0001857 ! Hypoplastic distal phalanges (feet) [Term] id: HP:0005736 name: Hypoplastic tibia namespace: medical_genetics is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia [Term] id: HP:0005737 name: Short fifth metacarpal namespace: medical_genetics synonym: "Short 5th metacarpal" EXACT [] is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0005738 name: Discrete calcific stippling namespace: medical_genetics is_a: HP:0002832 ! Calcific stippling [Term] id: HP:0005739 name: Posterior subluxation of radial head namespace: medical_genetics is_a: HP:0003048 ! Radial head subluxation [Term] id: HP:0005740 name: Small iliac bodies namespace: medical_genetics is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0005741 name: Increased bone density, mild-moderate namespace: medical_genetics def: "A mild-moderate increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones." [HPO:curators] comment: This term may be merged with Increased bone density in the future. is_a: HP:0004350 ! Increased bone mineral density [Term] id: HP:0005743 name: Abnormal femoral head with degenerative changes namespace: medical_genetics is_a: HP:0003368 ! Abnormality of the femoral head [Term] id: HP:0005744 name: Generalized osteoporosis with pathologic fractures namespace: medical_genetics is_a: HP:0000939 ! Osteoporosis [Term] id: HP:0005745 name: Congenital foot contractures namespace: medical_genetics is_a: HP:0001371 ! Contractures [Term] id: HP:0005746 name: Osteosclerosis of calvaria and base of the skull namespace: medical_genetics def: "An increase in bone density affecting the calvaria (roof of the skull) and the basicranium (base of the skull)." [HPO:curators] is_a: HP:0005450 ! Calvarial osteosclerosis [Term] id: HP:0005747 name: Easily subluxated first metacarpophalangeal joints namespace: medical_genetics is_a: HP:0004294 ! Subluxation of metacarpal phalangeal joints [Term] id: HP:0005748 name: Absent distal phalanges of index fingers and second toes namespace: medical_genetics is_a: HP:0009565 ! Aplasia of the distal phalanx of the 2nd finger [Term] id: HP:0005749 name: Irregular epiphyses with delayed growth namespace: medical_genetics is_a: HP:0002765 ! Irregular epiphyses [Term] id: HP:0005750 name: Contractures of lower limbs namespace: medical_genetics synonym: "Contractures, lower limbs" EXACT [] is_a: HP:0001371 ! Contractures [Term] id: HP:0005751 name: Ridging of metopic suture namespace: medical_genetics is_a: HP:0005556 ! Abnormality of the metopic suture [Term] id: HP:0005752 name: Flattened moderately deformed vertebrae namespace: medical_genetics is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005753 name: Mild limb shortening namespace: medical_genetics is_a: HP:0009826 ! Hypoplasia involving bones of the extremities [Term] id: HP:0005754 name: Hypoplastic metatarsals namespace: medical_genetics is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones [Term] id: HP:0005756 name: Epiphyseal stippling in neonates namespace: medical_genetics is_a: HP:0002658 ! Stippled epiphyses [Term] id: HP:0005757 name: Marked sclerosis of skull base namespace: medical_genetics is_a: HP:0002694 ! Sclerotic skull base [Term] id: HP:0005758 name: Foramen magnum lesion namespace: medical_genetics is_a: HP:0002699 ! Abnormality of the foramen magnum [Term] id: HP:0005759 name: Small flat posterior fossa namespace: medical_genetics is_a: HP:0000932 ! Abnormality of the posterior fossa [Term] id: HP:0005760 name: Index fingers short with absent middle phalanges namespace: medical_genetics is_a: HP:0009576 ! Aplasia of the middle phalanx of the 2nd finger [Term] id: HP:0005761 name: Congenital bone fractures namespace: medical_genetics is_a: HP:0005931 ! Abnormal susceptibility to fractures [Term] id: HP:0005762 name: Osteoarthritis, more common in adults namespace: medical_genetics is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0005764 name: Polyarticular arthritis namespace: medical_genetics is_a: HP:0005195 ! Polyarticular arthropathy [Term] id: HP:0005765 name: Sacral meningocele namespace: medical_genetics is_a: HP:0005107 ! Abnormality of the sacrum [Term] id: HP:0005766 name: Disproportionate shortening of the tibia namespace: medical_genetics is_a: HP:0002993 ! Short tibia [Term] id: HP:0005767 name: Complete cutaneous syndactyly of toes 1 and 2 namespace: medical_genetics is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0005768 name: Soft tissue syndactyly of toes 2, 3, and 4 namespace: medical_genetics is_a: HP:0008086 ! Cutaneous 2,3 toe syndactyly [Term] id: HP:0005769 name: Fifth finger distal phalanx clinodactyly namespace: medical_genetics is_a: HP:0001158 ! Fifth finger clinodactyly [Term] id: HP:0005770 name: Delay of myelination on brain mri namespace: medical_genetics is_a: HP:0002188 ! Delayed myelination [Term] id: HP:0005772 name: Aplasia/Hypoplasia of the tibia namespace: medical_genetics def: "Absence or underdevelopment of the tibia." [HPO:curators] synonym: "Absent/hypoplastic tibia" EXACT [] synonym: "Aplastic/hypoplastic tibia" EXACT [] is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs [Term] id: HP:0005773 name: Anteriorly bent short forearms namespace: medical_genetics is_a: HP:0009821 ! Hypoplasia involving forearm bones [Term] id: HP:0005774 name: Absent middle phalanges of fingers 2 and 5 namespace: medical_genetics is_a: HP:0009162 ! Aplasia of the middle phalanx of the 5th finger is_a: HP:0009576 ! Aplasia of the middle phalanx of the 2nd finger [Term] id: HP:0005775 name: Multiple skeletal anomalies namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0005776 name: Carpal bone malsegmentation namespace: medical_genetics is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0005777 name: Short middle and distal phalanges of digits ii through v namespace: medical_genetics is_a: HP:0001198 ! Short distal phalanges [Term] id: HP:0005778 name: Absent middle phalanges namespace: medical_genetics synonym: "Missing middle phalanges" EXACT [] is_a: HP:0005810 ! Aplasia/hypoplasia of middle phalanges [Term] id: HP:0005779 name: Spondylolysis and spondylolisthesis of l5 namespace: medical_genetics is_a: HP:0003302 ! Spondylolisthesis [Term] id: HP:0005780 name: No fourth finger distal interphalangeal crease namespace: medical_genetics is_a: HP:0001032 ! Absent distal interphalangeal creases [Term] id: HP:0005781 name: Contractures of the large joints namespace: medical_genetics is_a: HP:0001371 ! Contractures [Term] id: HP:0005782 name: Mild flattening and biconcavity of the vertebral bodies namespace: medical_genetics is_a: HP:0004586 ! Biconcave vertebral bodies [Term] id: HP:0005783 name: Moderate to severe bone fragility namespace: medical_genetics alt_id: HP:0005710 synonym: "Moderate-severe bone fragility" EXACT [] is_a: HP:0002798 ! Bone fragility [Term] id: HP:0005786 name: Abnormality of the phalanges namespace: medical_genetics comment: Abnormalities affecting the phalanges of the hands and/or those of the feet. is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0005787 name: Lumbar platyspondyly namespace: medical_genetics is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0005788 name: Abnormal cervical myelogram namespace: medical_genetics is_a: HP:0002318 ! Cervical myelopathy [Term] id: HP:0005789 name: Osteosclerosis, diffuse symmetrical namespace: medical_genetics alt_id: HP:0005805 synonym: "Diffuse, symmetrical osteosclerosis" EXACT [] is_a: HP:0002796 ! Osteosclerosis [Term] id: HP:0005790 name: Short mandibular condyles namespace: medical_genetics is_a: HP:0003778 ! Short mandibular rami [Term] id: HP:0005791 name: Cortical thickening of long bone diaphyses namespace: medical_genetics def: "Abnormal thickening of the cortex of the diaphyseal region of long bones." [HPO:curators] is_a: HP:0000935 ! Thickened cortex of long bones is_a: HP:0000940 ! Abnormality of the diaphyses [Term] id: HP:0005792 name: Humeral hypoplasia namespace: medical_genetics alt_id: HP:0002989 synonym: "Hypoplastic humerus" EXACT [] is_a: HP:0006507 ! Aplasia/Hypoplasia of the humerus [Term] id: HP:0005793 name: Absent/hypoplastic distal phalanges of hands and feet namespace: medical_genetics is_a: HP:0001857 ! Hypoplastic distal phalanges (feet) [Term] id: HP:0005794 name: Arterial disease of legs namespace: medical_genetics is_a: HP:0004950 ! Peripheral arterial disease [Term] id: HP:0005795 name: Short tapering fingers namespace: medical_genetics alt_id: HP:0006111 synonym: "Short, distally tapering fingers" EXACT [] synonym: "Short, tapering fingers" EXACT [] is_a: HP:0001182 ! Tapered fingers [Term] id: HP:0005796 name: Short second and fifth fingers namespace: medical_genetics is_a: HP:0009381 ! Hypoplastic/small fingers [Term] id: HP:0005797 name: Syndactyly of second to fourth fingers namespace: medical_genetics is_a: HP:0001159 ! Syndactyly [Term] id: HP:0005798 name: Congenital radial head posterior dislocation namespace: medical_genetics is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005802 name: Coalescence of tarsal bones namespace: medical_genetics is_a: HP:0008368 ! Synostosis involving tarsal bones [Term] id: HP:0005803 name: Coned epiphyses of hands and feet namespace: medical_genetics is_a: HP:0001175 ! Cone-shaped epiphyses (hand) [Term] id: HP:0005806 name: Intracerebral calcification on CT scan namespace: medical_genetics is_a: HP:0002514 ! Cerebral calcifications [Term] id: HP:0005807 name: Absent distal phalanges namespace: medical_genetics def: "Aplasia (absence) of the distal phalanges." [HPO:curators] is_a: HP:0005635 ! Aplasia/Hypoplasia of the distal phalanges [Term] id: HP:0005808 name: Postaxial hexadactyly namespace: medical_genetics is_a: HP:0001162 ! Postaxial polydactyly [Term] id: HP:0005809 name: Arthrogryposis, congenital namespace: medical_genetics is_a: HP:0001390 ! Arthrogryposis [Term] id: HP:0005810 name: Aplasia/hypoplasia of middle phalanges namespace: medical_genetics alt_id: HP:0006063 alt_id: HP:0006148 synonym: "Absent/hypoplastic middle phalanges" EXACT [] synonym: "Aplastic/hypoplastic middle phalanges" EXACT [] synonym: "Hypoplastic/aplastic middle phalanx" EXACT [] synonym: "Short to absent middle phalanges" EXACT [] synonym: "Short/absent middle phalanges" EXACT [] is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand [Term] id: HP:0005811 name: Ulnar deviation of index fingers namespace: medical_genetics synonym: "Second finger ulnar deviation" EXACT [] synonym: "Ulnar angulation of the index finger" EXACT [] is_a: HP:0009465 ! Ulnar deviation of fingers [Term] id: HP:0005812 name: Syndactyly of all toes namespace: medical_genetics is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0005813 name: Short 5th finger with absent/rudimentary middle phalanx namespace: medical_genetics is_a: HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger [Term] id: HP:0005814 name: Severe flexion contractures of hands and feet namespace: medical_genetics is_a: HP:0001371 ! Contractures [Term] id: HP:0005815 name: Supernumerary ribs namespace: medical_genetics alt_id: HP:0000901 synonym: "Extra ribs" EXACT [] is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0009144 ! Supernumerary bones of the axial skeleton [Term] id: HP:0005816 name: Broad terminal phalanges of fingers and toes namespace: medical_genetics is_a: HP:0003120 ! Broad terminal phalanges [Term] id: HP:0005817 name: Hallucal and postaxial polysyndactyly of the feet namespace: medical_genetics is_a: HP:0001830 ! Postaxial polydactyly (feet) [Term] id: HP:0005818 name: Absent/hypoplastic terminal phalanges of toes namespace: medical_genetics is_a: HP:0001857 ! Hypoplastic distal phalanges (feet) [Term] id: HP:0005819 name: Abnormally short and broad middle phalanges namespace: medical_genetics is_a: HP:0001208 ! Short middle phalanges [Term] id: HP:0005820 name: Superior rib anomalies namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0005821 name: Camptodactyly, all fingers namespace: medical_genetics is_a: HP:0009472 ! Joint contractures of the fingers [Term] id: HP:0005822 name: Slightly shortened forearms and legs namespace: medical_genetics is_a: HP:0005077 ! slightly short long bones [Term] id: HP:0005824 name: Clinodactyly of second toes namespace: medical_genetics is_a: HP:0001863 ! Clinodactyly (feet) [Term] id: HP:0005825 name: Mixed sclerosis of humeral metaphyses namespace: medical_genetics is_a: HP:0003918 ! Sclerotic humeral metaphysis [Term] id: HP:0005826 name: Symmetric syndactyly, toes 4 and 5 namespace: medical_genetics is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0005827 name: Incipient distal thumb phalanx duplication namespace: medical_genetics is_a: HP:0009606 ! duplicated distal phalanx of the 1st finger [Term] id: HP:0005828 name: Transient pulmonary infiltrates namespace: medical_genetics is_a: HP:0002113 ! Pulmonary infiltrates [Term] id: HP:0005829 name: Maldevelopment of radioulnar joint namespace: medical_genetics is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0005830 name: Partial flexion contractures of fingers and toes namespace: medical_genetics is_a: HP:0009472 ! Joint contractures of the fingers [Term] id: HP:0005831 name: Type B brachydactyly namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005832 name: Dysharmonic delayed bone age namespace: medical_genetics alt_id: HP:0005840 synonym: "Dysharmonic skeletal maturation" EXACT [] is_a: HP:0002750 ! Delayed skeletal maturation [Term] id: HP:0005833 name: Joint swelling onset late infancy namespace: medical_genetics is_a: HP:0001386 ! Joint swelling [Term] id: HP:0005834 name: Thumbs hypo/aplastic namespace: medical_genetics is_obsolete: true [Term] id: HP:0005835 name: Proximal fifth finger symphalangism namespace: medical_genetics synonym: "Proximal 5th finger symphalangism" EXACT [] is_a: HP:0001159 ! Syndactyly [Term] id: HP:0005836 name: Dislocated radius namespace: medical_genetics is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005837 name: Joint dislocations in young adult namespace: medical_genetics is_a: HP:0002772 ! Joint dislocations [Term] id: HP:0005839 name: Limb contractures by age 4-5 years namespace: medical_genetics is_a: HP:0003121 ! Limb contractures [Term] id: HP:0005841 name: Calcific stippling of infantile cartilaginous skeleton namespace: medical_genetics is_a: HP:0002832 ! Calcific stippling [Term] id: HP:0005844 name: Short, rounded, abnormal-shaped middle phalanges namespace: medical_genetics is_a: HP:0001208 ! Short middle phalanges [Term] id: HP:0005845 name: Camptodactyly of fingers 4 and 5 namespace: medical_genetics def: "Chronic loss of joint motion of one or more joints of the 4th and 5th finger due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected." [HPO:curators] synonym: "Joint contractures of the fingers 4 and 5" EXACT [] is_a: HP:0009183 ! Joint contractures of the 5th finger is_a: HP:0009274 ! Joint contractures of the 4th finger [Term] id: HP:0005846 name: Thumb replaced by one or two triphalangeal digits namespace: medical_genetics is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005847 name: Increased long bone fracture rate namespace: medical_genetics is_a: HP:0002659 ! Increased tendency to fractures [Term] id: HP:0005848 name: Broad or bifid thumb distal phalanx namespace: medical_genetics is_a: HP:0009642 ! Broad distal phalanx of the 1st finger [Term] id: HP:0005849 name: Diffuse cerebral calcification namespace: medical_genetics is_a: HP:0002514 ! Cerebral calcifications [Term] id: HP:0005850 name: Congenital talipes calcaneovalgus namespace: medical_genetics is_a: HP:0001884 ! Talipes calcaneovalgus [Term] id: HP:0005852 name: Limited elbow extension and supination namespace: medical_genetics is_a: HP:0001377 ! Limited elbow extension [Term] id: HP:0005853 name: Congenital foot contraction deformities namespace: medical_genetics is_a: HP:0002803 ! Congenital contractures [Term] id: HP:0005855 name: Multiple prenatal fractures namespace: medical_genetics is_a: HP:0002757 ! Multiple fractures [Term] id: HP:0005856 name: Ulnar dislocation of radial heads namespace: medical_genetics is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0005857 name: Cervical spina bifida namespace: medical_genetics is_a: HP:0002414 ! Spina bifida [Term] id: HP:0005859 name: Arthrogryposis multiplex congenita may occur namespace: medical_genetics is_a: HP:0002804 ! Arthrogryposis multiplex congenita [Term] id: HP:0005860 name: Extensive colonic diverticulosis namespace: medical_genetics is_a: HP:0002253 ! Colon diverticula [Term] id: HP:0005861 name: Syndactyly of toes 4 and 5 namespace: medical_genetics is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0005862 name: Delayed epiphyseal and carpal bone ossification namespace: medical_genetics is_a: HP:0002663 ! Late ossifying epiphyses [Term] id: HP:0005863 name: Type E brachydactyly namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0005864 name: Pseudoarthrosis namespace: medical_genetics synonym: "Pseudoarthroses" EXACT [] is_a: HP:0000924 ! Abnormality of the musculoskeletal system [Term] id: HP:0005866 name: Opposable triphalangeal thumbs namespace: medical_genetics is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0005867 name: Fused fourth and fifth metacarpals namespace: medical_genetics synonym: "Fused 4th-5th metacarpals" EXACT [] is_a: HP:0009707 ! Synostosis involving the 4th metacarpal [Term] id: HP:0005868 name: Metaphyseal enchondromatosis namespace: medical_genetics is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0005869 name: Osteomyelitis, especially of the mandible namespace: medical_genetics is_a: HP:0000277 ! Abnormality of the mandible [Term] id: HP:0005870 name: Bilateral absent thumb and radius namespace: medical_genetics is_a: HP:0004977 ! bilateral absence of radius [Term] id: HP:0005871 name: Metaphyseal chondrodysplasia namespace: medical_genetics is_a: HP:0000948 ! Metaphyseal dysplasia [Term] id: HP:0005872 name: Brachytelomesophalangy namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0005873 name: Polysyndactyly of great toes namespace: medical_genetics is_a: HP:0001770 ! Toe syndactyly [Term] id: HP:0005874 name: Clubbing of fingers and toes namespace: medical_genetics is_a: HP:0001217 ! Clubbing [Term] id: HP:0005875 name: Increased dermatoglyphic whorls namespace: medical_genetics is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005876 name: Joint contractures, progressive namespace: medical_genetics is_a: HP:0001372 ! Joint contractures [Term] id: HP:0005877 name: Multiple small vertebral fractures namespace: medical_genetics is_a: HP:0003468 ! Abnormalities of the vertebrae [Term] id: HP:0005878 name: Enlarged sagittal diameter of the cervical canal namespace: medical_genetics is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0005879 name: Congenital finger flexion contractures namespace: medical_genetics synonym: "Congenital finger contractures" EXACT [] is_a: HP:0001371 ! Contractures [Term] id: HP:0005880 name: Metacarpophalangeal synostoses namespace: medical_genetics is_a: HP:0009701 ! Synostosis involving the metacarpal bones [Term] id: HP:0005881 name: Spinal instability namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0005882 name: Dermatoglyphic variants namespace: medical_genetics is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0005883 name: Broad thumbs and broad great toes namespace: medical_genetics is_a: HP:0003094 ! Broad great toes [Term] id: HP:0005885 name: Absent ossification of cervical and thoracic vertebral bodies namespace: medical_genetics is_a: HP:0004599 ! Absent or minimally ossified vertebral bodies [Term] id: HP:0005886 name: Aphalangy, hands and feet namespace: medical_genetics is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand [Term] id: HP:0005888 name: Hypoplasia of fingers 1 and 5 namespace: medical_genetics is_a: HP:0009381 ! Hypoplastic/small fingers [Term] id: HP:0005889 name: Brachydactyly, toes and second metatarsal namespace: medical_genetics is_a: HP:0001831 ! Brachydactyly (feet) [Term] id: HP:0005890 name: Hyperostosis cranialis interna namespace: medical_genetics is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0005891 name: Progressive forearm curvature namespace: medical_genetics is_a: HP:0003956 ! Bowed forearm bones [Term] id: HP:0005892 name: Proximal tibial and fibular fusion namespace: medical_genetics is_a: HP:0005928 ! Synostosis involving the fibula is_a: HP:0005929 ! Synostosis involving the tibia [Term] id: HP:0005893 name: Spondyloepiphyseal dysplasia tarda namespace: medical_genetics is_a: HP:0002655 ! Spondyloepiphyseal dysplasia [Term] id: HP:0005894 name: Double first metacarpals namespace: medical_genetics is_a: HP:0005917 ! Supernumerary metacarpal bones [Term] id: HP:0005895 name: Radial deviation of thumb terminal phalanx namespace: medical_genetics is_a: HP:0009617 ! Abnormality of the distal phalanx of the 1st finger [Term] id: HP:0005896 name: Widened, irregular, sclerotic metaphyses namespace: medical_genetics is_a: HP:0005038 ! Widened, irregular metaphyses [Term] id: HP:0005897 name: Severe osteoporosis namespace: medical_genetics alt_id: HP:0005838 def: "Severe degree of osteoporosis." [HPO:curators] synonym: "Severe, generalized osteoporosis" EXACT [] is_a: HP:0000939 ! Osteoporosis [Term] id: HP:0005898 name: Short first metacarpals and first metatarsals namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0005899 name: Metaphyseal dysostosis namespace: medical_genetics is_a: HP:0000944 ! Abnormality of the metaphyses [Term] id: HP:0005900 name: Fifth metacarpal notched on ulnar side namespace: medical_genetics is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0005901 name: Chronic recurrent multifocal osteomyelitis namespace: medical_genetics is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0005902 name: Straight and short clavicles namespace: medical_genetics is_a: HP:0000894 ! Short clavicles [Term] id: HP:0005903 name: Longstanding, multiple, subcutaneous nodules namespace: medical_genetics is_a: HP:0001482 ! Subcutaneous nodules [Term] id: HP:0005905 name: Abnormal cervical curvature namespace: medical_genetics is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0005906 name: Mastoid processes poorly pneumatized namespace: medical_genetics is_a: HP:0000264 ! Abnormality of the mastoid [Term] id: HP:0005907 name: Broad metatarsals and phalanges namespace: medical_genetics is_a: HP:0001783 ! Broad metatarsals [Term] id: HP:0005908 name: Diaphyseal bowing of long bones namespace: medical_genetics synonym: "Diaphyseal bowing" EXACT [] is_a: HP:0006504 ! Abnormality involving the diaphyses of the limbs [Term] id: HP:0005909 name: Short metacarpals and phalanges namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0005910 name: Rhomboid or triangular shaped 5th finger middle phalanx namespace: medical_genetics def: "Rhomboid or triangular shaped 5th (little) finger middle phalanx." [HPO:curators] synonym: "Rhomboid or triangular shaped fifth finger middle phalanx" EXACT [] is_a: HP:0009182 ! Triangular shaped middle phalanx of the 5th finger [Term] id: HP:0005911 name: Absent metacarpals namespace: medical_genetics synonym: "Absent metacarpal" EXACT [] is_a: HP:0005914 ! Aplasia/Hypoplasia involving the metacarpal bones [Term] id: HP:0005912 name: Biliary duct atresia namespace: medical_genetics synonym: "Biliary atresia" EXACT [] is_a: HP:0001080 ! Biliary tract abnormality created_by: peter creation_date: 2008-03-27T02:07:00Z [Term] id: HP:0005913 name: Abnormality of metacarpal epiphyses namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: peter creation_date: 2008-03-27T02:13:00Z [Term] id: HP:0005914 name: Aplasia/Hypoplasia involving the metacarpal bones namespace: medical_genetics alt_id: HP:0006007 synonym: "Absent or hypoplastic metacarpals" EXACT [] synonym: "Aplastic/hypoplastic metacarpals" EXACT [] synonym: "Hypoplastic metacarpals" EXACT [] synonym: "Hypoplastic/absent metacarpal bones" EXACT [] synonym: "Hypoplastic/absent metacarpals" EXACT [] synonym: "Metacarpal aplasia/hypoplasia" EXACT [] is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0005927 ! Aplasia/Hypoplasia involving bones of the hand created_by: peter creation_date: 2008-03-27T02:14:00Z [Term] id: HP:0005916 name: Abnormal metacarpal morphology namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: peter creation_date: 2008-03-27T02:17:00Z [Term] id: HP:0005917 name: Supernumerary metacarpal bones namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones created_by: peter creation_date: 2008-03-27T02:18:00Z [Term] id: HP:0005918 name: Abnormality of the phalanges of the hand namespace: medical_genetics comment: This category is a supercategory for abnormalties affect phalanges of the hand. is_a: HP:0001167 ! Abnormality of the fingers is_a: HP:0005786 ! Abnormality of the phalanges created_by: peter creation_date: 2008-03-27T02:19:00Z [Term] id: HP:0005919 name: Abnormal terminal phalanges of the hand namespace: medical_genetics is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: peter creation_date: 2008-03-27T02:20:00Z [Term] id: HP:0005920 name: Abnormality of the epiphyses of the phalanges of the hand namespace: medical_genetics is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: peter creation_date: 2008-03-27T02:21:00Z [Term] id: HP:0005921 name: Abnormal ossification of hand bones namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand created_by: peter creation_date: 2008-03-27T02:23:00Z [Term] id: HP:0005922 name: Abnormal hand morphology namespace: medical_genetics comment: This is a category to be used for general descriptions of hand dysmorphology. In time, it should be replaced by more accurate descriptions. is_a: HP:0001155 ! Abnormality of the hand created_by: peter creation_date: 2008-03-27T02:25:00Z [Term] id: HP:0005923 name: Abnormalities of the metaphyses of the hand namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand created_by: peter creation_date: 2008-03-27T02:27:00Z [Term] id: HP:0005924 name: Abnormalities of the epiphyses of the hand namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand created_by: peter creation_date: 2008-03-27T02:28:00Z [Term] id: HP:0005925 name: Abnormalities of the diaphyses of the hand namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand created_by: peter creation_date: 2008-03-27T02:28:00Z [Term] id: HP:0005926 name: Abnormalities of the cortex of hand bones namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand created_by: peter creation_date: 2008-03-27T02:29:00Z [Term] id: HP:0005927 name: Aplasia/Hypoplasia involving bones of the hand namespace: medical_genetics synonym: "Hypoplasia/Absence of hand bones" EXACT [] is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0006496 ! Aplasia/Hypoplasia involving bones of the upper limbs created_by: peter creation_date: 2008-03-27T02:29:00Z [Term] id: HP:0005928 name: Synostosis involving the fibula namespace: medical_genetics is_a: HP:0002991 ! Abnormality of the fibula is_a: HP:0009138 ! Synostosis involving bones of the lower limbs created_by: peter creation_date: 2008-03-27T02:34:00Z [Term] id: HP:0005929 name: Synostosis involving the tibia namespace: medical_genetics is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0009138 ! Synostosis involving bones of the lower limbs created_by: peter creation_date: 2008-03-27T02:34:00Z [Term] id: HP:0005930 name: Abnormality of the epiphyses namespace: medical_genetics alt_id: HP:0000936 synonym: "Epiphyseal abnormality" EXACT [] is_a: HP:0000924 ! Abnormality of the musculoskeletal system created_by: peter creation_date: 2008-03-27T03:00:00Z [Term] id: HP:0005931 name: Abnormal susceptibility to fractures namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system created_by: peter creation_date: 2008-03-27T03:12:00Z [Term] id: HP:0005932 name: Abnormal corticomedullary differentiation namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys created_by: peter creation_date: 2008-03-27T03:21:00Z [Term] id: HP:0005933 name: Kidney cancer namespace: medical_genetics def: "Malignant tumor originating in the kidney." [HPO:curators] is_a: HP:0000077 ! Abnormality of the kidneys is_a: HP:0009726 ! Renal tumors created_by: peter creation_date: 2008-03-27T03:24:00Z [Term] id: HP:0005934 name: Imperfect vocal cord adduction namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0005935 name: Laryngeal hypoplasia namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0005936 name: Apneic episodes namespace: medical_genetics is_a: HP:0002104 ! Apnea [Term] id: HP:0005937 name: Respiratory function loss namespace: medical_genetics is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0005938 name: Ciliary dysgenesis namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0005939 name: Multiple bilateral pneumothoraces namespace: medical_genetics is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0005941 name: Intermittent hyperpnea at rest namespace: medical_genetics is_a: HP:0004879 ! intermittent hyperventilation [Term] id: HP:0005942 name: Desquamative interstitial pneumonitis namespace: medical_genetics is_a: HP:0006530 ! Interstitial pulmonary disease [Term] id: HP:0005943 name: Respiratory arrest namespace: medical_genetics is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0005944 name: Bilateral lung agenesis namespace: medical_genetics is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0005945 name: Laryngeal obstruction namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0005946 name: Ventilar dependence with inability to wean namespace: medical_genetics is_a: HP:0004887 ! Respiratory failure requiring assisted ventilation [Term] id: HP:0005947 name: Decreased sensitivity to hypoxemia namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0005948 name: Cystic lung disease namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0005949 name: Apneic episodes in infancy namespace: medical_genetics is_a: HP:0005936 ! Apneic episodes [Term] id: HP:0005950 name: Partial laryngeal atresia namespace: medical_genetics is_a: HP:0008750 ! Laryngeal atresia [Term] id: HP:0005951 name: Progressive inspiratory stridor namespace: medical_genetics is_a: HP:0005348 ! Inspiratory stridor [Term] id: HP:0005952 name: Decreased pulmonary function namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0005953 name: Diminished diaphragmatic motion namespace: medical_genetics is_a: HP:0000775 ! Abnormality of the diaphragm [Term] id: HP:0005954 name: Pulmonary capillary hemangiomatosis namespace: medical_genetics synonym: "Pulmonary hemangiomas" EXACT [] is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0005956 name: Anteroposteriorly shortened larynx namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0005957 name: Breathing dysregulation namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0005958 name: Absence of spontaneous respiration namespace: medical_genetics is_a: HP:0002795 ! Functional respiratory abnormality [Term] id: HP:0005959 name: Impaired gluconeogenesis namespace: medical_genetics synonym: "Gluconeogenesis impaired" EXACT [] is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0005960 name: Lactic acidosis, may be mild namespace: medical_genetics is_a: HP:0003255 ! Lactic acidosis [Term] id: HP:0005961 name: Arginine deficiency namespace: medical_genetics is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0005962 name: Increased body temperature, episodic, in some patients namespace: medical_genetics def: "Periodic (episodic or recurrent) bouts of fever that do not have an infectious cause." [HPO:curators] comment: This term should not be used for new annotations. Rather, the frequency of patients with the disease who have recurrent episodes of fever should be noted in the annotation file. This term will be obsoleted in the future. is_a: HP:0001954 ! Fever, episodic [Term] id: HP:0005963 name: Recurrent episodes of acidosis namespace: medical_genetics is_a: HP:0001941 ! Acidosis [Term] id: HP:0005964 name: Intermittent hypothermia namespace: medical_genetics is_a: HP:0002045 ! Hypothermia [Term] id: HP:0005967 name: Mixed respiratory and metabolic acidosis namespace: medical_genetics is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0005968 name: Temperature instability namespace: medical_genetics is_a: HP:0004370 ! Abnormality of temperature regulation [Term] id: HP:0005969 name: Hypoglycemia, hypoketotic namespace: medical_genetics is_a: HP:0001943 ! Hypoglycemia [Term] id: HP:0005970 name: Hypothermia, episodic, in infants namespace: medical_genetics is_a: HP:0002045 ! Hypothermia [Term] id: HP:0005971 name: Neonatal or infantile metabolic ketoacidosis namespace: medical_genetics is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0005972 name: Respiratory acidosis namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0005973 name: Fructose intolerance namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0005974 name: Ketoacidosis, episodic namespace: medical_genetics is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005975 name: Hyperaldosteronism namespace: medical_genetics is_a: HP:0000859 ! Increased plasma aldosterone [Term] id: HP:0005976 name: Hyperkalemic metabolic acidosis namespace: medical_genetics is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0005977 name: Hypochloremic metabolic alkalosis namespace: medical_genetics is_a: HP:0001948 ! Alkalosis [Term] id: HP:0005978 name: Noninsulin-dependent diabetes mellitus namespace: medical_genetics alt_id: HP:0005965 synonym: "Diabetes mellitus, noninsulin-dependent" EXACT [] synonym: "NIDDM diabetes mellitus" EXACT [] synonym: "Noninsulin-dependent diabetes" EXACT [] is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0005979 name: Metabolic ketoacidosis namespace: medical_genetics is_a: HP:0001942 ! Metabolic acidosis [Term] id: HP:0005981 name: Severe intermittent ketoacidosis namespace: medical_genetics is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005982 name: Phenylalanine hydroxylase deficiency namespace: medical_genetics is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0005983 name: Episodic severe ketoacidosis namespace: medical_genetics is_a: HP:0001993 ! Ketoacidosis [Term] id: HP:0005984 name: Elevated maternal serum alpha-fetoprotein namespace: medical_genetics is_a: HP:0006254 ! Elevated alpha-fetoprotein [Term] id: HP:0005985 name: Elevated amniotic alpha-fetoprotein in affected fetuses with encephalocele namespace: medical_genetics is_a: HP:0004639 ! Elevated amniotic fluid alpha-fetoprotein [Term] id: HP:0005986 name: Limitation of neck motion namespace: medical_genetics is_a: HP:0000464 ! Neck abnormality [Term] id: HP:0005987 name: Multinodular goiter namespace: medical_genetics is_a: HP:0000853 ! Goiter [Term] id: HP:0005988 name: Torticollis, congenital namespace: medical_genetics is_a: HP:0000473 ! Torticollis [Term] id: HP:0005989 name: Redundant neck skin namespace: medical_genetics is_a: HP:0000464 ! Neck abnormality [Term] id: HP:0005990 name: Hypoplastic thyroid namespace: medical_genetics is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0005991 name: Limited neck flexion namespace: medical_genetics is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0005993 name: Redundant skin over the neck namespace: medical_genetics is_a: HP:0005989 ! Redundant neck skin [Term] id: HP:0005994 name: Nodular goiter namespace: medical_genetics is_a: HP:0000853 ! Goiter [Term] id: HP:0005995 name: Decreased adipose tissue around neck namespace: medical_genetics synonym: "Loss of adipose tissue around the neck" EXACT [] is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0005996 name: Redundant skin folds of neck namespace: medical_genetics is_a: HP:0005989 ! Redundant neck skin [Term] id: HP:0005997 name: Restricted neck movement due to contractures namespace: medical_genetics is_a: HP:0005986 ! Limitation of neck motion [Term] id: HP:0005998 name: Severe ureteral reflux namespace: medical_genetics is_a: HP:0000076 ! Vesicoureteral reflux [Term] id: HP:0005999 name: Ureteral atresia namespace: medical_genetics is_a: HP:0000069 ! Abnormality of the ureters [Term] id: HP:0006000 name: Ureteral obstruction namespace: medical_genetics is_a: HP:0000069 ! Abnormality of the ureters [Term] id: HP:0006004 name: Short third, fourth, fifth metacarpals namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0006005 name: Proximal interphalangeal joint synostoses namespace: medical_genetics is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0006006 name: Hypotrophy of the small hand muscles namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0006008 name: Unilateral brachydactyly namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0006009 name: Widened phalanges namespace: medical_genetics is_a: HP:0006260 ! Widening of phalanges of the hand [Term] id: HP:0006010 name: Long, hyperextensible fingers namespace: medical_genetics def: "Abnormally long fingers with hyperextensible finger joints." [HPO:curators] is_a: HP:0001166 ! Arachnodactyly is_a: HP:0001187 ! Hyperextensible fingers [Term] id: HP:0006011 name: Short, cuboidal metacarpals namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0006012 name: Widened metacarpal shaft namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006014 name: Abnormally shaped carpal bones namespace: medical_genetics is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0006016 name: Severe delay in phalangeal epiphyseal bone maturation namespace: medical_genetics is_a: HP:0002663 ! Late ossifying epiphyses [Term] id: HP:0006017 name: Disproportionate shortening of 2nd and 3rd fingers namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0006018 name: 2-3 and 3-4 finger syndactyly namespace: medical_genetics is_a: HP:0001233 ! 2-3 finger syndactyly [Term] id: HP:0006019 name: Reduced proximal interphalangeal joint space namespace: medical_genetics is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006020 name: Absent carpal ossification center namespace: medical_genetics is_a: HP:0004231 ! Absent carpal bones/absent ossification of the carpal bones [Term] id: HP:0006021 name: Short proximal and medial phalanges namespace: medical_genetics is_a: HP:0001208 ! Short middle phalanges is_a: HP:0006138 ! Short proximal phalanges [Term] id: HP:0006022 name: Ulnar deviation of 2nd, 3rd finger namespace: medical_genetics is_a: HP:0005811 ! Ulnar deviation of index fingers is_a: HP:0009463 ! Ulnar deviation of the 3rd finger is_a: HP:0009464 ! Ulnar deviation of the 2nd finger [Term] id: HP:0006023 name: Enlarged phalangeal epiphyses namespace: medical_genetics is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand [Term] id: HP:0006025 name: Fifth finger symphalangism namespace: medical_genetics is_a: HP:0001159 ! Syndactyly [Term] id: HP:0006026 name: Rounded epiphyses namespace: medical_genetics is_a: HP:0005924 ! Abnormalities of the epiphyses of the hand [Term] id: HP:0006027 name: Absent first metacarpal namespace: medical_genetics is_a: HP:0005911 ! Absent metacarpals [Term] id: HP:0006028 name: Metaphyseal cupping of metacarpals namespace: medical_genetics alt_id: HP:0006131 def: "Metaphyseal cupping affecting the metacarpal bones." [HPO:curators] synonym: "Metacarpal/metaphyseal cupping" EXACT [] is_a: HP:0003021 ! Metaphyseal cupping [Term] id: HP:0006029 name: Small, irregular carpal bones namespace: medical_genetics is_a: HP:0001209 ! Small carpal bones [Term] id: HP:0006030 name: Short, wide phalanges namespace: medical_genetics alt_id: HP:0006249 def: "Abnormally short and broad (wide) phalanges." [HPO:curators] synonym: "Short, broad phalanges" EXACT [] is_a: HP:0001246 ! Broad phalanges is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand [Term] id: HP:0006031 name: Hypoplastic or absent interphalangeal creases namespace: medical_genetics is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0006033 name: Cone-shaped epiphyses of middle phalanges namespace: medical_genetics is_a: HP:0001242 ! Cone-shaped phalangeal epiphyses [Term] id: HP:0006034 name: Preaxial and/or postaxial polydactyly namespace: medical_genetics is_a: HP:0001162 ! Postaxial polydactyly is_a: HP:0001177 ! Preaxial polydactyly [Term] id: HP:0006035 name: Cone-shaped epiphyses of phalanges 2 to 5 namespace: medical_genetics is_a: HP:0001242 ! Cone-shaped phalangeal epiphyses [Term] id: HP:0006040 name: Long second metacarpal namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006042 name: Y-shaped metacarpals namespace: medical_genetics def: "Y-shaped metacarpals are the result of a partial fusion of two metacarpal bones, with the two arms of the Y pointing in the distal direction. Y-shaped metacarpals may be seen in combination with polydactyly." [HPO:curators] is_a: HP:0009701 ! Synostosis involving the metacarpal bones [Term] id: HP:0006045 name: Short pointed phalanges namespace: medical_genetics is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand [Term] id: HP:0006046 name: Pre- or postaxial polydactyly namespace: medical_genetics alt_id: HP:0006123 synonym: "Polydactyly, preaxial or postaxial" EXACT [] is_a: HP:0006034 ! Preaxial and/or postaxial polydactyly [Term] id: HP:0006047 name: Mild shortening of metacarpals namespace: medical_genetics alt_id: HP:0006186 synonym: "Mild shortened metacarpals" EXACT [] is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0006048 name: Distal widening of metacarpals namespace: medical_genetics is_a: HP:0003016 ! Widened metaphyses [Term] id: HP:0006049 name: Wrist flexion deformity namespace: medical_genetics is_a: HP:0001239 ! Wrist contractures [Term] id: HP:0006051 name: Metacarpal periosteal thickening namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006052 name: Tapered distal phalanges namespace: medical_genetics is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand [Term] id: HP:0006053 name: Second finger clinodactyly namespace: medical_genetics is_a: HP:0001157 ! Clinodactyly [Term] id: HP:0006054 name: Partial cutaneous syndactyly namespace: medical_genetics is_a: HP:0005637 ! Cutaneous syndactyly [Term] id: HP:0006055 name: Ulnar deviated club hands namespace: medical_genetics is_a: HP:0009487 ! Ulnar deviation of the hand [Term] id: HP:0006057 name: Partial syndactyly namespace: medical_genetics is_a: HP:0001159 ! Syndactyly [Term] id: HP:0006058 name: Cone-shaped epiphyses of middle and proximal phalanges namespace: medical_genetics is_a: HP:0001242 ! Cone-shaped phalangeal epiphyses [Term] id: HP:0006059 name: Cone-shaped metacarpal epiphyses namespace: medical_genetics def: "A cone-shaped appearance of the epiphyses of the metacarpal bones, producing a 'ball-in-a-socket' appearance. This epiphyses are located at the distal ends of the metacarpal bones." [HPO:curators] synonym: "Metacarpal cone-shaped epiphyses" RELATED [] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses [Term] id: HP:0006060 name: Tombstone-shaped proximal phalanges namespace: medical_genetics is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand [Term] id: HP:0006062 name: 5th finger clino-camptodactyly namespace: medical_genetics is_a: HP:0009183 ! Joint contractures of the 5th finger [Term] id: HP:0006064 name: Limited interphalangeal movement namespace: medical_genetics is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006065 name: Short, broad metacarpals namespace: medical_genetics alt_id: HP:0006024 def: "Abnormally short and broad metacarpal bones." [HPO:curators] synonym: "Short, wide metacarpals" EXACT [] is_a: HP:0001230 ! Broad metacarpals is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0006067 name: Multiple carpal ossification centers namespace: medical_genetics is_a: HP:0005921 ! Abnormal ossification of hand bones [Term] id: HP:0006068 name: Brachymesophalangy namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0006069 name: Severe carpal ossification delay namespace: medical_genetics is_a: HP:0001216 ! Delayed maturation/delayed ossification of carpal bones [Term] id: HP:0006070 name: Metacarpal/phalangeal joint contractures, severe namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006072 name: Small, irregular carpals namespace: medical_genetics is_a: HP:0004236 ! Irregular carpal bones [Term] id: HP:0006073 name: Short, broad proximal phalanx of thumb namespace: medical_genetics is_a: HP:0009630 ! Broad proximal phalanx of the 1st finger is_a: HP:0009638 ! Hypoplastic/small proximal phalanx of the 1st finger [Term] id: HP:0006074 name: Short 3rd metacarpals namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0006075 name: Variable shortening of terminal phalanges namespace: medical_genetics is_a: HP:0001198 ! Short distal phalanges [Term] id: HP:0006076 name: Short, broad distal phalanges, especially thumbs namespace: medical_genetics is_a: HP:0001198 ! Short distal phalanges [Term] id: HP:0006077 name: Absent proximal finger flexion creases namespace: medical_genetics is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0006078 name: Ivory and cone-shaped epiphyses namespace: medical_genetics is_a: HP:0005924 ! Abnormalities of the epiphyses of the hand [Term] id: HP:0006079 name: Synostosis of distal phalanges namespace: medical_genetics is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0006081 name: Short/broad middle phalanges namespace: medical_genetics is_a: HP:0001208 ! Short middle phalanges [Term] id: HP:0006082 name: Absent distal and middle phalanges namespace: medical_genetics is_a: HP:0005807 ! Absent distal phalanges [Term] id: HP:0006083 name: Variable fifth finger clinodactyly namespace: medical_genetics is_a: HP:0001158 ! Fifth finger clinodactyly [Term] id: HP:0006084 name: Aplastic carpal bone namespace: medical_genetics is_a: HP:0004231 ! Absent carpal bones/absent ossification of the carpal bones [Term] id: HP:0006085 name: Delta phalanx/delta-like phalanx namespace: medical_genetics is_a: HP:0006259 ! Abnormal form of phalanges of the hand [Term] id: HP:0006086 name: Thin metacarpal cortices namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006088 name: 1-5 finger complete cutaneous syndactyly namespace: medical_genetics is_a: HP:0005637 ! Cutaneous syndactyly [Term] id: HP:0006089 name: Palmar hyperhidrosis namespace: medical_genetics is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0006090 name: Bifid terminal phalanges of thumbs namespace: medical_genetics is_a: HP:0001228 ! Bifid terminal phalanges [Term] id: HP:0006091 name: Accessory proximal metacarpal ossification centers namespace: medical_genetics alt_id: HP:0006164 def: "The normal metacarpal epiphyses are located at the distal ends of the metacarpal bones. Accessory epiphyses (which are also known as pseudoepiphyses) can also occasionally be observed at the proximal ends of the metacarpals, usually involving the 2nd metacarpal bone." [HPO:curators] synonym: "Metacarpal pseudoepiphyses" EXACT [] is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006092 name: Malaligned carpal bone namespace: medical_genetics is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0006093 name: Progressive brachydactyly of middle and distal phalanges namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0006094 name: Finger joint hypermobility namespace: medical_genetics is_a: HP:0006256 ! Abnormality of hand joint mobility [Term] id: HP:0006095 name: Wide tufts of distal phalanges namespace: medical_genetics is_a: HP:0006200 ! Widened distal phalanges [Term] id: HP:0006096 name: Contractures of the hands namespace: medical_genetics is_a: HP:0009473 ! Joint contractures involving the joints of the hand [Term] id: HP:0006097 name: 3rd-4th finger syndactyly namespace: medical_genetics is_a: HP:0001159 ! Syndactyly [Term] id: HP:0006098 name: Slender, tapering fingers namespace: medical_genetics alt_id: HP:0006244 synonym: "Thin, tapering fingers" EXACT [] is_a: HP:0001182 ! Tapered fingers [Term] id: HP:0006099 name: Metacarpophalangeal joint hyperextensibility namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006101 name: Finger syndactyly namespace: medical_genetics is_a: HP:0001159 ! Syndactyly [Term] id: HP:0006102 name: Absent proximal phalanges namespace: medical_genetics is_a: HP:0009802 ! Aplasia of the phalanges of the hand [Term] id: HP:0006103 name: Absent 5th metacarpal namespace: medical_genetics is_a: HP:0005911 ! Absent metacarpals [Term] id: HP:0006105 name: Eburnated epiphyses of distal phalanges namespace: medical_genetics is_a: HP:0005924 ! Abnormalities of the epiphyses of the hand [Term] id: HP:0006106 name: Absent trapezoid bone namespace: medical_genetics is_a: HP:0004256 ! Abnormality of the trapezoid bone [Term] id: HP:0006107 name: Fingerpad telangiectases namespace: medical_genetics alt_id: HP:0006246 def: "Telangiectasia (small dilated blood vessels) located in the fingerpads at the tips of the fingers." [HPO:curators] synonym: "Finger pad telangiectases" EXACT [] is_a: HP:0001009 ! Telangiectases [Term] id: HP:0006108 name: Short, tapered metacarpals namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0006109 name: Absent phalangeal creases namespace: medical_genetics is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0006110 name: Disproportionately short middle phalanges namespace: medical_genetics is_a: HP:0001208 ! Short middle phalanges [Term] id: HP:0006112 name: Expanded phalanges with widened medullary cavities namespace: medical_genetics is_a: HP:0009768 ! Broad phalanges of the hand [Term] id: HP:0006114 name: Multiple palmar creases namespace: medical_genetics is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0006115 name: Brachydactyly e-like changes namespace: medical_genetics is_a: HP:0005863 ! Type E brachydactyly [Term] id: HP:0006116 name: Symphalangism, proximal and distal namespace: medical_genetics is_a: HP:0001159 ! Syndactyly [Term] id: HP:0006118 name: Hypoplastic distal and middle phalanges namespace: medical_genetics is_a: HP:0001202 ! Hypoplastic distal phalanges [Term] id: HP:0006119 name: Pointed proximal metacarpals namespace: medical_genetics def: "Some or all of the metacarpal bones (i.e., metacarpal II to V) have a pointed proximal appearance." [HPO:curators] is_a: HP:0005916 ! Abnormal metacarpal morphology [Term] id: HP:0006120 name: Small 3rd and 4th metacarpals namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0006121 name: Acral ulceration leading to autoamputation of digits namespace: medical_genetics is_a: HP:0001218 ! Autoamputation [Term] id: HP:0006124 name: Absent first metatarsal namespace: medical_genetics is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones [Term] id: HP:0006125 name: Long tapered fingers namespace: medical_genetics alt_id: HP:0006032 alt_id: HP:0006080 synonym: "Long, tapered fingers" EXACT [] synonym: "Long, tapering fingers" EXACT [] is_a: HP:0001182 ! Tapered fingers [Term] id: HP:0006127 name: Long, slender middle and proximal phalanges namespace: medical_genetics is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand [Term] id: HP:0006128 name: Brachydactyly, complex namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0006129 name: 'Drumstick' terminal phalanges namespace: medical_genetics is_a: HP:0006259 ! Abnormal form of phalanges of the hand [Term] id: HP:0006132 name: Very short distal phalanges namespace: medical_genetics is_a: HP:0001198 ! Short distal phalanges [Term] id: HP:0006133 name: Partial or complete syndactyly 3rd-4th fingers namespace: medical_genetics is_a: HP:0001159 ! Syndactyly [Term] id: HP:0006134 name: Enlarged metacarpal epiphyses namespace: medical_genetics def: "Abnormally large size of the metaphyseal epiphyses." [HPO:curators] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses [Term] id: HP:0006135 name: Decreased finger mobility namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand [Term] id: HP:0006136 name: Bilateral postaxial polydactyly namespace: medical_genetics is_a: HP:0001162 ! Postaxial polydactyly [Term] id: HP:0006137 name: Finger and wrist contractures namespace: medical_genetics is_a: HP:0001239 ! Wrist contractures [Term] id: HP:0006138 name: Short proximal phalanges namespace: medical_genetics is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand [Term] id: HP:0006139 name: Conical bullet-shaped distal ends of phalanges namespace: medical_genetics is_a: HP:0006259 ! Abnormal form of phalanges of the hand [Term] id: HP:0006140 name: Premature fusion of phalangeal epiphyses namespace: medical_genetics is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand [Term] id: HP:0006141 name: Short 1st, 4th, 5th metacarpals namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0006143 name: Abnormal finger flexion creases namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0006144 name: Short proximal and middle phalanges namespace: medical_genetics is_a: HP:0001208 ! Short middle phalanges [Term] id: HP:0006145 name: Central Y-shaped metacarpal namespace: medical_genetics def: "A central Y-shaped metacarpal is the result of a partial fusion of two central metacarpals (i.e., metacarpals 2-4) of the hand, with the two arms of the Y pointing in the distal direction. Central Y-shaped metacarpals may be seen as a result of a central polydactyly with partial fusion of the duplicated metacarpal." [HPO:curators] is_a: HP:0006042 ! Y-shaped metacarpals [Term] id: HP:0006146 name: Thin metacarpals with broad epiphyses namespace: medical_genetics is_a: HP:0005913 ! Abnormality of metacarpal epiphyses [Term] id: HP:0006147 name: Progressive fusion 2nd-5th pip joints namespace: medical_genetics is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0006149 name: Increased laxity of fingers namespace: medical_genetics is_a: HP:0006094 ! Finger joint hypermobility [Term] id: HP:0006150 name: Swan neck-like deformities of the fingers namespace: medical_genetics def: "A swan neck deformity describes a finger with a hyperextended PIP joint and a flexed DIP joint. The most common cause for a swan neck-like deformitie is a disruption of the end of the extensor tendon. Conditions that loosen the PIP joint and allow it to hyperextend, for example conditions that weaken the volar plate, can produce a swan neck deformity of the finger. One example is rheumatoid arthritis. Another cause are conditions that tighten up the small (intrinsic) muscles of the hand and fingers, for example hand trauma or nerve disorders, such as cerebral palsy, Parkinson's disease, or stroke." [HPO:curators] is_a: HP:0001167 ! Abnormality of the fingers [Term] id: HP:0006151 name: Thumb brachydactyly namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0006152 name: Proximal symphalangism namespace: medical_genetics is_a: HP:0001159 ! Syndactyly [Term] id: HP:0006153 name: Disharmonious carpal bone namespace: medical_genetics is_a: HP:0006014 ! Abnormally shaped carpal bones [Term] id: HP:0006155 name: Wide and elongated phalanges namespace: medical_genetics is_a: HP:0006009 ! Widened phalanges [Term] id: HP:0006156 name: Ulnar deviation of 1st, 3rd fingers namespace: medical_genetics is_a: HP:0009465 ! Ulnar deviation of fingers [Term] id: HP:0006157 name: Prominent palmar flexion creases namespace: medical_genetics is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0006158 name: Finger joint hyperextensibility namespace: medical_genetics is_a: HP:0006094 ! Finger joint hypermobility [Term] id: HP:0006159 name: Central polydactyly namespace: medical_genetics alt_id: HP:0001496 alt_id: HP:0004056 synonym: "Interdigital polydactyly (hand)" EXACT [] synonym: "Mesoaxial polydactyly" EXACT [] is_a: HP:0001161 ! Polydactyly [Term] id: HP:0006160 name: Hypoplastic, irregular metacarpals namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0006161 name: Short metacarpals with rounded proximal ends namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0006162 name: Soft tissue swelling of interphalangeal joints namespace: medical_genetics is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006163 name: Enlarged metacarpophalangeal joints namespace: medical_genetics is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006165 name: Proportionate shortening of all digits namespace: medical_genetics is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers [Term] id: HP:0006166 name: Tubular metacarpal bones namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006167 name: Prominent proximal interphalangeal joints namespace: medical_genetics is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006168 name: 'Chubby' proximal phalanges namespace: medical_genetics is_a: HP:0006259 ! Abnormal form of phalanges of the hand [Term] id: HP:0006169 name: Decreased mobility 3rd-5th fingers namespace: medical_genetics is_a: HP:0006135 ! Decreased finger mobility [Term] id: HP:0006170 name: 'Chess-pawn' distal phalanges namespace: medical_genetics is_a: HP:0006259 ! Abnormal form of phalanges of the hand [Term] id: HP:0006171 name: Fifth digit middle or distal phalangeal hypoplasia namespace: medical_genetics is_a: HP:0004220 ! Hypoplastic/small middle phalanx of the 5th finger is_a: HP:0004227 ! Hypoplastic/small distal phalanx of the 5th finger [Term] id: HP:0006172 name: Flattened, squared-off epiphyses of tubular bones namespace: medical_genetics is_a: HP:0003053 ! Epiphyseal deformities of tubular bones [Term] id: HP:0006173 name: Contractures of the hands, mild namespace: medical_genetics is_a: HP:0009473 ! Joint contractures involving the joints of the hand [Term] id: HP:0006174 name: Metacarpal diaphyseal endosteal sclerosis namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006175 name: Proximal phalangeal periosteal thickening namespace: medical_genetics is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand [Term] id: HP:0006176 name: Two carpal ossification centers present at birth namespace: medical_genetics is_a: HP:0006257 ! Abnormality of carpal bone ossification [Term] id: HP:0006179 name: Pseudoepiphyses of second metacarpal namespace: medical_genetics is_a: HP:0006091 ! Accessory proximal metacarpal ossification centers [Term] id: HP:0006180 name: Crowded carpal bones namespace: medical_genetics is_a: HP:0001191 ! Abnormality of the carpal bones [Term] id: HP:0006181 name: Clinodactyly, 3,5 finger namespace: medical_genetics is_a: HP:0001157 ! Clinodactyly [Term] id: HP:0006184 name: Hypoplastic palmar creases namespace: medical_genetics alt_id: HP:0006178 synonym: "Poorly formed palmar creases" EXACT [] is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0006185 name: Enlarged proximal interphalangeal joints namespace: medical_genetics is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006187 name: Fusion of midphalangeal joints namespace: medical_genetics is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand [Term] id: HP:0006189 name: Prominent interdigital folds namespace: medical_genetics is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0006190 name: Radially deviated wrists namespace: medical_genetics is_a: HP:0009486 ! Radial deviation of the hand [Term] id: HP:0006191 name: Deep palmar creases namespace: medical_genetics is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0006192 name: Short, tapered phalanges namespace: medical_genetics is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand [Term] id: HP:0006193 name: Broad, thimble-like middle phalanges namespace: medical_genetics is_a: HP:0006260 ! Widening of phalanges of the hand [Term] id: HP:0006194 name: Separate triphalangeal thumb namespace: medical_genetics is_a: HP:0001199 ! Triphalangeal thumb [Term] id: HP:0006195 name: Severe camptodactyly namespace: medical_genetics is_a: HP:0009472 ! Joint contractures of the fingers [Term] id: HP:0006196 name: Bifid terminal phalanges digits 2 and 3 namespace: medical_genetics is_a: HP:0001228 ! Bifid terminal phalanges [Term] id: HP:0006197 name: Spatulate terminal phalanges namespace: medical_genetics is_a: HP:0005919 ! Abnormal terminal phalanges of the hand [Term] id: HP:0006199 name: Short, broad distal phalanges namespace: medical_genetics is_a: HP:0001198 ! Short distal phalanges [Term] id: HP:0006200 name: Widened distal phalanges namespace: medical_genetics is_a: HP:0006009 ! Widened phalanges [Term] id: HP:0006201 name: Hypermobility of distal interphalangeal joints namespace: medical_genetics is_a: HP:0005620 ! Hypermobility of interphalangeal joints [Term] id: HP:0006202 name: Osteolysis of scaphoids namespace: medical_genetics is_a: HP:0004243 ! Abnormality of the scaphoid [Term] id: HP:0006203 name: Decreased movement range in interphalangeal joints namespace: medical_genetics is_a: HP:0006135 ! Decreased finger mobility [Term] id: HP:0006204 name: Disharmonic maturation of phalanges and carpal bones namespace: medical_genetics is_a: HP:0004053 ! Dysharmonic maturation of the hand bones [Term] id: HP:0006205 name: Short, irregular phalanges namespace: medical_genetics is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand [Term] id: HP:0006206 name: Hypersegmentation of proximal and middle 2nd, 3rd phalanges namespace: medical_genetics is_a: HP:0005918 ! Abnormality of the phalanges of the hand [Term] id: HP:0006207 name: Partial fusion of carpals namespace: medical_genetics is_a: HP:0009702 ! Synostosis involving the carpal bones [Term] id: HP:0006208 name: Metaphyseal cupping of proximal phalanges namespace: medical_genetics def: "Metaphyseal cupping affecting the proximal phalanges." [HPO:curators] is_a: HP:0003021 ! Metaphyseal cupping [Term] id: HP:0006209 name: Partial-complete absence of 5th phalanges namespace: medical_genetics is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger [Term] id: HP:0006210 name: Postaxial oligodactyly namespace: medical_genetics is_a: HP:0001180 ! Oligodactyly [Term] id: HP:0006211 name: Short 4th-5th fingers namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly [Term] id: HP:0006212 name: Short 2nd, 3rd middle phalanges namespace: medical_genetics is_a: HP:0001208 ! Short middle phalanges [Term] id: HP:0006213 name: Thin proximal phalanges with broad epiphyses namespace: medical_genetics is_a: HP:0005918 ! Abnormality of the phalanges of the hand is_a: HP:0005920 ! Abnormality of the epiphyses of the phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand [Term] id: HP:0006216 name: Single interphalangeal crease of fifth finger namespace: medical_genetics is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0006217 name: Limited mobility of proximal interphalangeal joint namespace: medical_genetics is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006218 name: Mild finger contractures namespace: medical_genetics is_a: HP:0009472 ! Joint contractures of the fingers [Term] id: HP:0006220 name: Variable cutaneous syndactyly namespace: medical_genetics is_a: HP:0005637 ! Cutaneous syndactyly [Term] id: HP:0006222 name: Fifth metacarpal hypoplasia namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0006223 name: Narrowed distal phalanges namespace: medical_genetics is_a: HP:0005919 ! Abnormal terminal phalanges of the hand [Term] id: HP:0006224 name: Tapered, pointed distal phalanges namespace: medical_genetics is_a: HP:0006052 ! Tapered distal phalanges [Term] id: HP:0006226 name: Osteoarthritis of the first carpometacarpal joint namespace: medical_genetics is_a: HP:0004268 ! Osteoarthritis of the small joints of the hand [Term] id: HP:0006227 name: Small, irregular carpal centers namespace: medical_genetics is_a: HP:0004236 ! Irregular carpal bones [Term] id: HP:0006228 name: Valgus hand deformity namespace: medical_genetics is_a: HP:0005922 ! Abnormal hand morphology [Term] id: HP:0006229 name: Deviation of terminal phalanges namespace: medical_genetics is_a: HP:0005919 ! Abnormal terminal phalanges of the hand [Term] id: HP:0006230 name: Unilateral oligodactyly namespace: medical_genetics is_a: HP:0001180 ! Oligodactyly [Term] id: HP:0006231 name: Rudimentary 2nd metacarpal namespace: medical_genetics is_a: HP:0005695 ! Metacarpal hypoplasia [Term] id: HP:0006232 name: Expanded metacarpals with widened medullary cavities namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006233 name: Osteoarthritis of the distal interphalangeal joint namespace: medical_genetics is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006234 name: Osteolysis involving tarsal bones namespace: medical_genetics is_a: HP:0001850 ! Abnormalities of the tarsal bones is_a: HP:0009134 ! Osteolysis involving bones of the feet created_by: peter creation_date: 2008-04-17T02:39:00Z [Term] id: HP:0006236 name: Long, slender metacarpals namespace: medical_genetics is_a: HP:0001163 ! Abnormality of the metacarpal bones [Term] id: HP:0006237 name: Prominent interphalangeal joints namespace: medical_genetics is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006239 name: Brachymesophalangy of hands and feet namespace: medical_genetics is_a: HP:0005872 ! Brachytelomesophalangy [Term] id: HP:0006241 name: Broad, square ends of distal phalanges namespace: medical_genetics is_a: HP:0006260 ! Widening of phalanges of the hand [Term] id: HP:0006243 name: Phalangeal dislocations namespace: medical_genetics is_a: HP:0005918 ! Abnormality of the phalanges of the hand [Term] id: HP:0006245 name: Fifth finger single interphalangeal crease namespace: medical_genetics is_a: HP:0006143 ! Abnormal finger flexion creases [Term] id: HP:0006247 name: Enlarged interphalangeal joints namespace: medical_genetics is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006248 name: Limited wrist movement namespace: medical_genetics is_a: HP:0006256 ! Abnormality of hand joint mobility [Term] id: HP:0006250 name: Fifth finger distal interphalangeal joint symphalangism namespace: medical_genetics is_a: HP:0001159 ! Syndactyly [Term] id: HP:0006251 name: Limited wrist extension namespace: medical_genetics is_a: HP:0006248 ! Limited wrist movement [Term] id: HP:0006252 name: Interphalangeal joint erosions namespace: medical_genetics is_a: HP:0006261 ! Abnormality of phalangeal joints of the hand [Term] id: HP:0006253 name: Swelling of proximal interphalangeal joints namespace: medical_genetics is_a: HP:0005918 ! Abnormality of the phalanges of the hand [Term] id: HP:0006254 name: Elevated alpha-fetoprotein namespace: medical_genetics synonym: "Increased levels of alpha fetoprotein" EXACT [] synonym: "Increased serum alpha-fetoprotein" EXACT [] synonym: "Serum alpha-fetoprotein increased" EXACT [] is_a: HP:0001560 ! Amniotic fluid abnormality created_by: peter creation_date: 2008-03-28T09:17:00Z [Term] id: HP:0006256 name: Abnormality of hand joint mobility namespace: medical_genetics is_a: HP:0001155 ! Abnormality of the hand created_by: peter creation_date: 2008-03-28T10:14:00Z [Term] id: HP:0006257 name: Abnormality of carpal bone ossification namespace: medical_genetics is_a: HP:0001191 ! Abnormality of the carpal bones created_by: peter creation_date: 2008-03-28T02:29:00Z [Term] id: HP:0006259 name: Abnormal form of phalanges of the hand namespace: medical_genetics is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: peter creation_date: 2008-03-28T02:53:00Z [Term] id: HP:0006260 name: Widening of phalanges of the hand namespace: medical_genetics is_a: HP:0006259 ! Abnormal form of phalanges of the hand created_by: peter creation_date: 2008-03-28T02:54:00Z [Term] id: HP:0006261 name: Abnormality of phalangeal joints of the hand namespace: medical_genetics is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: peter creation_date: 2008-03-28T02:55:00Z [Term] id: HP:0006262 name: Aplasia/Hypoplasia of the 5th finger namespace: medical_genetics is_a: HP:0004207 ! Abnormality of the 5th finger is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: peter creation_date: 2008-03-28T02:59:00Z [Term] id: HP:0006263 name: Abnormality of the epiphyses of the 2nd finger namespace: medical_genetics is_a: HP:0004100 ! Abnormality of the 2nd finger is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: peter creation_date: 2008-03-28T03:04:00Z [Term] id: HP:0006264 name: Aplasia/Hypoplasia of the 2nd finger namespace: medical_genetics is_a: HP:0004100 ! Abnormality of the 2nd finger is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: peter creation_date: 2008-03-28T03:06:00Z [Term] id: HP:0006265 name: Aplasia/Hypoplasia of fingers namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers is_a: HP:0005927 ! Aplasia/Hypoplasia involving bones of the hand created_by: peter creation_date: 2008-03-28T03:09:00Z [Term] id: HP:0006266 name: Small or abnormal placenta namespace: medical_genetics is_a: HP:0001194 ! Abnormalities of placenta and umbilical cord [Term] id: HP:0006267 name: Placental enlargement namespace: medical_genetics is_a: HP:0001194 ! Abnormalities of placenta and umbilical cord [Term] id: HP:0006268 name: Fluctuating splenomegaly namespace: medical_genetics is_a: HP:0001744 ! Splenomegaly [Term] id: HP:0006269 name: Minimal splenomegaly namespace: medical_genetics is_a: HP:0001745 ! Mild splenomegaly [Term] id: HP:0006270 name: Hypoplastic spleen namespace: medical_genetics is_a: HP:0001743 ! Abnormality of the spleen [Term] id: HP:0006273 name: Pancreatic lymphangiectasis namespace: medical_genetics is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0006274 name: Reduced pancreatic beta cells namespace: medical_genetics is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0006275 name: Pancreatic islet-cell hypertrophy namespace: medical_genetics synonym: "Hypertrophic pancreatic islets" EXACT [] is_a: HP:0004510 ! Islets of Langerhans hyperplasia [Term] id: HP:0006276 name: Hyperechogenic pancreas namespace: medical_genetics is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0006277 name: Pancreatic hyperplasia namespace: medical_genetics is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0006278 name: Ectopic pancreatic tissue namespace: medical_genetics is_a: HP:0001732 ! Abnormality of the pancreas [Term] id: HP:0006279 name: Beta-cell dysfunction namespace: medical_genetics is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0006280 name: Chronic pancreatitis namespace: medical_genetics is_a: HP:0001733 ! Pancreatitis [Term] id: HP:0006281 name: Small and widely spaced teeth namespace: medical_genetics def: "Small teeth with wide spaces between the teeth." [HPO:curators] is_a: HP:0000687 ! Widely spaced teeth [Term] id: HP:0006282 name: Severe enamel dysplasia namespace: medical_genetics is_a: HP:0001565 ! Enamel dysplasia [Term] id: HP:0006283 name: Multiple unerupted teeth namespace: medical_genetics is_a: HP:0000706 ! Unerupted teeth [Term] id: HP:0006284 name: Amelogenesis imperfecta, hypomaturation-hypoplasia type namespace: medical_genetics is_a: HP:0000705 ! Amelogenesis imperfecta [Term] id: HP:0006285 name: Hypomineralization of enamel namespace: medical_genetics is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0006286 name: Yellow-brown discoloration of the teeth namespace: medical_genetics is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0006287 name: Partial to total absence of permanent teeth namespace: medical_genetics is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0006288 name: Premature eruption of teeth namespace: medical_genetics alt_id: HP:0006317 synonym: "Premature tooth eruption" EXACT [] is_a: HP:0006292 ! Abnormalities of dental eruption [Term] id: HP:0006289 name: Absent central incisors namespace: medical_genetics alt_id: HP:0006320 synonym: "Absent central incisor" EXACT [] is_a: HP:0006485 ! Absence of incisors [Term] id: HP:0006290 name: Discolored lateral incisors namespace: medical_genetics is_a: HP:0000676 ! Abnormality of the incisors [Term] id: HP:0006291 name: Marked delay in eruption of permanent teeth namespace: medical_genetics is_a: HP:0000696 ! delayed eruption of secondary teeth [Term] id: HP:0006292 name: Abnormalities of dental eruption namespace: medical_genetics synonym: "Abnormal dental eruption" EXACT [] is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0006293 name: Absent upper central incisors namespace: medical_genetics is_a: HP:0006485 ! Absence of incisors [Term] id: HP:0006294 name: Delayed teeth eruption on ipsilateral side namespace: medical_genetics is_a: HP:0000686 ! Delayed tooth eruption [Term] id: HP:0006295 name: Severe dental caries namespace: medical_genetics is_a: HP:0000670 ! Carious teeth [Term] id: HP:0006296 name: Poor dental development namespace: medical_genetics is_a: HP:0000684 ! Delayed dentition [Term] id: HP:0006297 name: Hypoplastic dental enamel namespace: medical_genetics alt_id: HP:0000671 synonym: "Dental enamel hypoplasia" EXACT [] synonym: "Enamel hypoplasia" EXACT [] is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0006298 name: Prolonged bleeding after dental extraction namespace: medical_genetics is_a: HP:0001934 ! Persistent bleeding after trauma [Term] id: HP:0006300 name: Prominent widely-spaced incisors namespace: medical_genetics is_a: HP:0000669 ! Widely spaced upper incisors [Term] id: HP:0006301 name: Dental decay due to recurrent bacterial periodontitis namespace: medical_genetics is_a: HP:0000165 ! Periodontitis [Term] id: HP:0006302 name: Dagger-shaped pulp calcifications namespace: medical_genetics is_a: HP:0006479 ! Abnormality of the dental pulp [Term] id: HP:0006303 name: Abnormal teeth spacing namespace: medical_genetics is_a: HP:0006478 ! Abnormality of teeth spacing [Term] id: HP:0006304 name: Wide gap between upper and lower central incisors namespace: medical_genetics is_a: HP:0001570 ! Central incisor gap [Term] id: HP:0006306 name: Early dental caries namespace: medical_genetics is_a: HP:0000670 ! Carious teeth [Term] id: HP:0006307 name: Small, widely spaced teeth namespace: medical_genetics is_a: HP:0000687 ! Widely spaced teeth [Term] id: HP:0006308 name: Atrophy of alveolar ridges namespace: medical_genetics is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0006309 name: Failure of eruption of permanent teeth namespace: medical_genetics is_a: HP:0000696 ! delayed eruption of secondary teeth [Term] id: HP:0006311 name: Generalized microdontia namespace: medical_genetics is_a: HP:0000691 ! Microdontia [Term] id: HP:0006312 name: Hypoplastic alveolar bone, severe namespace: medical_genetics is_a: HP:0000187 ! Broad alveolar ridges [Term] id: HP:0006313 name: Widely spaced deciduous teeth namespace: medical_genetics is_a: HP:0000687 ! Widely spaced teeth [Term] id: HP:0006315 name: Single median maxillary central incisor namespace: medical_genetics is_a: HP:0001568 ! Single central upper incisor [Term] id: HP:0006316 name: Irregularly spaced teeth namespace: medical_genetics is_a: HP:0006478 ! Abnormality of teeth spacing [Term] id: HP:0006318 name: Small deciduous teeth namespace: medical_genetics is_a: HP:0006481 ! Abnormality of deciduous teeth [Term] id: HP:0006321 name: Multiple non-erupting secondary teeth namespace: medical_genetics is_a: HP:0000696 ! delayed eruption of secondary teeth [Term] id: HP:0006322 name: Hypocalicifed-hypoplastic enamel namespace: medical_genetics is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0006323 name: Premature deciduous tooth loss namespace: medical_genetics is_a: HP:0000701 ! Loss of teeth [Term] id: HP:0006324 name: Wide upper central incisors namespace: medical_genetics is_a: HP:0001570 ! Central incisor gap [Term] id: HP:0006326 name: Buried teeth encased in mucopolysaccharide namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0006327 name: Amelogenesis imperfecta, hypocalcified type namespace: medical_genetics is_a: HP:0000705 ! Amelogenesis imperfecta [Term] id: HP:0006328 name: Late eruption of teeth namespace: medical_genetics is_a: HP:0006292 ! Abnormalities of dental eruption [Term] id: HP:0006329 name: Alveolar process hypoplasia namespace: medical_genetics is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0006330 name: Rotated maxillary central incisors namespace: medical_genetics is_a: HP:0000676 ! Abnormality of the incisors [Term] id: HP:0006331 name: Amelogenesis imperfecta, hypoplastic namespace: medical_genetics alt_id: HP:0006310 alt_id: HP:0006325 synonym: "Hypoplastic amelogenesis imperfecta" EXACT [] synonym: "Hypoplastic type amelogenesis imperfecta" EXACT [] is_a: HP:0000705 ! Amelogenesis imperfecta [Term] id: HP:0006332 name: Supernumerary maxillary incisors namespace: medical_genetics is_a: HP:0000676 ! Abnormality of the incisors [Term] id: HP:0006333 name: Crowded upper incisors namespace: medical_genetics is_a: HP:0006478 ! Abnormality of teeth spacing [Term] id: HP:0006334 name: Hypoplastic deciduous teeth namespace: medical_genetics is_a: HP:0000685 ! Hypoplastic teeth [Term] id: HP:0006335 name: Delayed loss of deciduous teeth namespace: medical_genetics alt_id: HP:0006354 synonym: "Delayed loss of primary teeth" EXACT [] is_a: HP:0006292 ! Abnormalities of dental eruption [Term] id: HP:0006336 name: Underdeveloped dental roots namespace: medical_genetics is_a: HP:0006486 ! Abnormality of dental roots [Term] id: HP:0006337 name: Precocious eruption of secondary teeth namespace: medical_genetics is_a: HP:0006288 ! Premature eruption of teeth [Term] id: HP:0006338 name: Malformation of mandibular premolars namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality [Term] id: HP:0006339 name: Pointed lower central incisors namespace: medical_genetics is_a: HP:0000676 ! Abnormality of the incisors [Term] id: HP:0006340 name: Irregular, small, or absent incisors namespace: medical_genetics is_a: HP:0006478 ! Abnormality of teeth spacing [Term] id: HP:0006341 name: Persistence of deciduous teeth namespace: medical_genetics alt_id: HP:0003772 alt_id: HP:0006299 alt_id: HP:0006305 synonym: "Deciduous teeth retention" EXACT [] synonym: "Persistent primary dentition" EXACT [] synonym: "Persistent primary teeth" EXACT [] synonym: "Retained deciduous teeth" EXACT [] is_a: HP:0006335 ! Delayed loss of deciduous teeth [Term] id: HP:0006342 name: Absent or peg-shaped lateral incisors namespace: medical_genetics is_a: HP:0006485 ! Absence of incisors [Term] id: HP:0006344 name: Deciduous molars show abnormal morphology namespace: medical_genetics is_a: HP:0006481 ! Abnormality of deciduous teeth is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0006345 name: Abnormally pointed upper lateral incisors namespace: medical_genetics is_a: HP:0000676 ! Abnormality of the incisors [Term] id: HP:0006346 name: Screwdriver blade-shaped incisors namespace: medical_genetics is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0006347 name: Small, pointed deciduous teeth namespace: medical_genetics is_a: HP:0006481 ! Abnormality of deciduous teeth is_a: HP:0006482 ! Abnormality of dental morphology [Term] id: HP:0006349 name: Absent permanent teeth namespace: medical_genetics is_a: HP:0009804 ! Reduced number of teeth [Term] id: HP:0006350 name: Crescent/chevron-shaped pulp chambers namespace: medical_genetics is_a: HP:0006479 ! Abnormality of the dental pulp [Term] id: HP:0006351 name: Premature loss of primary teeth namespace: medical_genetics alt_id: HP:0006319 def: "Loss of the primary (also known as deciduous) teeth before the usual age." [HPO:curators] synonym: "Premature loss of deciduous teeth" EXACT [] is_a: HP:0006480 ! Premature loss of teeth [Term] id: HP:0006352 name: Failure of secondary teeth eruption namespace: medical_genetics is_a: HP:0006292 ! Abnormalities of dental eruption [Term] id: HP:0006353 name: Hypoplastic tooth buds namespace: medical_genetics is_a: HP:0000685 ! Hypoplastic teeth [Term] id: HP:0006355 name: Absent lower central incisors namespace: medical_genetics is_a: HP:0006485 ! Absence of incisors [Term] id: HP:0006356 name: Single maxillary central incisor namespace: medical_genetics is_a: HP:0001573 ! Single central incisor [Term] id: HP:0006357 name: Premature loss of secondary teeth namespace: medical_genetics is_a: HP:0006480 ! Premature loss of teeth [Term] id: HP:0006358 name: Shovel-shaped maxillary central incisors namespace: medical_genetics is_a: HP:0000676 ! Abnormality of the incisors [Term] id: HP:0006359 name: Decreased enamel mineralisation namespace: medical_genetics is_a: HP:0000682 ! Abnormality of dental enamel [Term] id: HP:0006360 name: Radiolucent metaphyses have abnormal trabecular pattern namespace: medical_genetics is_a: HP:0005089 ! Abnormal metaphyseal trabeculation [Term] id: HP:0006361 name: Irregular femoral epiphyses namespace: medical_genetics is_a: HP:0002765 ! Irregular epiphyses [Term] id: HP:0006362 name: Varus deformity of humeral neck namespace: medical_genetics is_a: HP:0003887 ! Abnormality of the humeral heads [Term] id: HP:0006365 name: Proximal radial shortening namespace: medical_genetics is_a: HP:0002984 ! Hypoplastic radius [Term] id: HP:0006366 name: Adductor longus contractures namespace: medical_genetics is_a: HP:0001371 ! Contractures [Term] id: HP:0006367 name: Broad crumpled long bones namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0006368 name: Forearm reduction defects namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0006369 name: Small, irregular patellae namespace: medical_genetics is_a: HP:0003065 ! Patellar hypoplasia [Term] id: HP:0006370 name: Distal ulnar epiphyseal calcifications namespace: medical_genetics is_a: HP:0004037 ! Abnormality of the ulnar epiphyses [Term] id: HP:0006371 name: Short, broad long bone diaphyses namespace: medical_genetics is_a: HP:0006504 ! Abnormality involving the diaphyses of the limbs [Term] id: HP:0006372 name: Hypoplasia or unilateral/bilateral absence of ulna namespace: medical_genetics is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna [Term] id: HP:0006375 name: Short, dumbbell femur namespace: medical_genetics is_a: HP:0005061 ! short, dumbbell appearance of long bones [Term] id: HP:0006376 name: Limited elbow flexion namespace: medical_genetics is_a: HP:0005060 ! limited elbow flexion/extension [Term] id: HP:0006377 name: Metaphyseal chondrodysplasia of long bones namespace: medical_genetics is_a: HP:0005871 ! Metaphyseal chondrodysplasia [Term] id: HP:0006378 name: Osteolysis of patellae namespace: medical_genetics is_a: HP:0003045 ! Abnormality of the patella is_a: HP:0009139 ! Osteolysis involving bones of the lower limbs [Term] id: HP:0006379 name: Proximal tibial hypopolasia namespace: medical_genetics is_a: HP:0005736 ! Hypoplastic tibia [Term] id: HP:0006380 name: Knee flexion deformities namespace: medical_genetics is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0006381 name: Rudimentary fibula namespace: medical_genetics is_a: HP:0004986 ! rudimentary to absent fibulae [Term] id: HP:0006382 name: Short, bent long bones namespace: medical_genetics is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities [Term] id: HP:0006383 name: Progressive bowing of long bones namespace: medical_genetics is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006384 name: Club-shaped distal femur namespace: medical_genetics alt_id: HP:0006447 synonym: "Club-shaped distal femora" EXACT [] is_a: HP:0002823 ! Abnormality of the femora [Term] id: HP:0006385 name: Short lower limbs namespace: medical_genetics is_a: HP:0009816 ! Hypoplasia involving bones of the lower limbs [Term] id: HP:0006386 name: Hypoplastic distal radial epiphyses namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0006387 name: Wide distal metaphysis of femur namespace: medical_genetics is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0006388 name: Hypoplastic/absent/deformed ulna namespace: medical_genetics is_a: HP:0006495 ! Aplasia/Hypoplasia of the ulna [Term] id: HP:0006389 name: Limited knee flexion namespace: medical_genetics is_a: HP:0005085 ! limited knee flexion/extension [Term] id: HP:0006390 name: Anterior bowing of tibia namespace: medical_genetics is_a: HP:0002982 ! Tibial bowing [Term] id: HP:0006391 name: Overtubulated long bones namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0006392 name: Increased density of long bones namespace: medical_genetics is_a: HP:0004350 ! Increased bone mineral density [Term] id: HP:0006393 name: Flat proximal femoral epiphyses namespace: medical_genetics synonym: "Flattened proximal femoral epiphyses" EXACT [] is_a: HP:0006499 ! Abnormality of femoral epiphyses [Term] id: HP:0006394 name: Limited pronation/supination of forearm namespace: medical_genetics is_a: HP:0002996 ! Limited elbow movement [Term] id: HP:0006397 name: Lateral displacement of patellae namespace: medical_genetics is_a: HP:0003045 ! Abnormality of the patella [Term] id: HP:0006398 name: Mildly flattened distal femoral epiphyses namespace: medical_genetics is_a: HP:0006499 ! Abnormality of femoral epiphyses [Term] id: HP:0006400 name: Absent knee epiphyses namespace: medical_genetics is_a: HP:0002815 ! Abnormality of the knees [Term] id: HP:0006402 name: Distal shortening of limbs namespace: medical_genetics is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities [Term] id: HP:0006406 name: Club-shaped proximal femurs namespace: medical_genetics is_a: HP:0002823 ! Abnormality of the femora [Term] id: HP:0006407 name: Small, irregular distal femoral epiphyses namespace: medical_genetics is_a: HP:0006499 ! Abnormality of femoral epiphyses [Term] id: HP:0006408 name: Short femora with proximal clubbing and distal tapering namespace: medical_genetics is_a: HP:0003097 ! Short femurs [Term] id: HP:0006409 name: Progressive leg bowing namespace: medical_genetics is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006410 name: Absent-hypoplastic ulnae namespace: medical_genetics is_a: HP:0003022 ! Ulnar hypoplasia [Term] id: HP:0006411 name: Radiohumeral dislocation namespace: medical_genetics is_a: HP:0003083 ! Dislocated radial head [Term] id: HP:0006412 name: Flat, irregular femoral epiphyses namespace: medical_genetics is_a: HP:0006499 ! Abnormality of femoral epiphyses [Term] id: HP:0006413 name: Broad tibial metaphyses namespace: medical_genetics is_a: HP:0006491 ! Abnormality of the tibial metaphysis [Term] id: HP:0006414 name: Tibial bowing, especially at ankle namespace: medical_genetics is_a: HP:0002982 ! Tibial bowing [Term] id: HP:0006415 name: Cortically dense long tubular bones namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0006416 name: Asymmetric limb hypertrophy namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0006417 name: Broad femoral metaphyses namespace: medical_genetics is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0006418 name: Progressive shortening of radius in first year namespace: medical_genetics is_a: HP:0002995 ! Short radius [Term] id: HP:0006419 name: Variable humeri hypoplasia namespace: medical_genetics is_a: HP:0005792 ! Humeral hypoplasia [Term] id: HP:0006420 name: Asymmetric radial dysplasia namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius [Term] id: HP:0006422 name: 'erlenmeyer flask' deformity of distal femur namespace: medical_genetics is_a: HP:0004975 ! 'Erlenmeyer flask' deformity of the femurs [Term] id: HP:0006423 name: Peg-like central prominence of distal tibial metaphyses namespace: medical_genetics is_a: HP:0006491 ! Abnormality of the tibial metaphysis [Term] id: HP:0006424 name: Elongated radius with hypoplasia of radial head namespace: medical_genetics is_a: HP:0003997 ! Hypoplastic radial head [Term] id: HP:0006426 name: Rudimentary to absent tibiae namespace: medical_genetics is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia [Term] id: HP:0006427 name: Severe metaphyseal changes of long bones namespace: medical_genetics is_a: HP:0006506 ! Abnormality involving the metaphyses of the limbs [Term] id: HP:0006428 name: Bowed, short lower extremities namespace: medical_genetics is_a: HP:0002979 ! Bowing of the legs [Term] id: HP:0006429 name: Broad femoral neck namespace: medical_genetics alt_id: HP:0003369 def: "An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:Curators] synonym: "Broadening of femoral neck" EXACT [] synonym: "Wide femoral neck" EXACT [] synonym: "Widened femoral necks" EXACT [] is_a: HP:0003367 ! Abnormality of the femoral neck [Term] id: HP:0006430 name: Tight achilles tendon namespace: medical_genetics is_a: HP:0004711 ! Shortening of the achilles tendon [Term] id: HP:0006431 name: Metaphyseal abnormalities of distal and proximal femurs namespace: medical_genetics is_a: HP:0006489 ! Abnormality of the femoral metaphysis [Term] id: HP:0006432 name: Trapezoidal distal femoral condyles namespace: medical_genetics is_a: HP:0002823 ! Abnormality of the femora [Term] id: HP:0006433 name: Short, dysplastic radii namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm [Term] id: HP:0006434 name: Hypoplasia of proximal radius namespace: medical_genetics is_a: HP:0002984 ! Hypoplastic radius [Term] id: HP:0006435 name: Disproportionately long ulnae namespace: medical_genetics is_a: HP:0003988 ! Long ulna [Term] id: HP:0006436 name: Shortening of the tibia namespace: medical_genetics alt_id: HP:0006445 synonym: "Marked shortening of tibia" EXACT [] is_a: HP:0005736 ! Hypoplastic tibia [Term] id: HP:0006437 name: Disproportionate prominence of the femoral medial condyle namespace: medical_genetics is_a: HP:0002823 ! Abnormality of the femora [Term] id: HP:0006438 name: Large distal femoral epiphyses namespace: medical_genetics is_a: HP:0006499 ! Abnormality of femoral epiphyses [Term] id: HP:0006439 name: Radioulnar dislocation namespace: medical_genetics alt_id: HP:0003972 synonym: "Dislocated radioulnar joints" EXACT [] is_a: HP:0003059 ! Abnormality of the radioulnar joints [Term] id: HP:0006440 name: Increased density of long bone diaphyses namespace: medical_genetics is_a: HP:0006504 ! Abnormality involving the diaphyses of the limbs [Term] id: HP:0006441 name: Lateral humeral condyle aplasia namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0006442 name: Hypoplasia of proximal fibula namespace: medical_genetics is_a: HP:0003038 ! Fibular hypoplasia [Term] id: HP:0006443 name: Patellar aplasia namespace: medical_genetics alt_id: HP:0003046 alt_id: HP:0006475 synonym: "Absent patella" EXACT [] synonym: "Absent patellae" EXACT [] synonym: "Absent patellas" EXACT [] synonym: "Aplastic patellae" EXACT [] is_a: HP:0006498 ! Aplasia/Hypoplasia of the patella [Term] id: HP:0006444 name: Ulnae, relatively short namespace: medical_genetics is_a: HP:0002998 ! Short ulna [Term] id: HP:0006446 name: Dysplastic patella namespace: medical_genetics is_a: HP:0003045 ! Abnormality of the patella [Term] id: HP:0006448 name: Perthes-like femoral head changes namespace: medical_genetics is_a: HP:0005743 ! Abnormal femoral head with degenerative changes [Term] id: HP:0006449 name: Distal radial epiphyseal osteolysis namespace: medical_genetics is_a: HP:0003999 ! Abnormality of radial epiphyses [Term] id: HP:0006450 name: Multicentric ossification of proximal femoral epiphyses namespace: medical_genetics is_a: HP:0006499 ! Abnormality of femoral epiphyses [Term] id: HP:0006451 name: Congenital bowing of the long bones namespace: medical_genetics is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006452 name: Marked shortness and bowing of long bones namespace: medical_genetics is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006453 name: Laterally displaced femoral heads namespace: medical_genetics is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0006454 name: Severely delayed patellae ossification namespace: medical_genetics is_a: HP:0003045 ! Abnormality of the patella [Term] id: HP:0006455 name: Upper limb brachymesomelia namespace: medical_genetics is_a: HP:0005011 ! upper limb mesomelic shortening [Term] id: HP:0006456 name: Small, irregular proximal tibial epiphyses namespace: medical_genetics is_a: HP:0006508 ! Abnormality of tibial epiphyses [Term] id: HP:0006457 name: Long bone shortening namespace: medical_genetics is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities [Term] id: HP:0006458 name: Irregular patellar margins namespace: medical_genetics is_a: HP:0003045 ! Abnormality of the patella [Term] id: HP:0006459 name: Dorsal subluxation of ulna namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna [Term] id: HP:0006460 name: Increased laxity of ankles namespace: medical_genetics is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0006461 name: Proximal femoral epiphysiolysis namespace: medical_genetics is_a: HP:0006499 ! Abnormality of femoral epiphyses [Term] id: HP:0006462 name: Generalized bone demineralization namespace: medical_genetics def: "A generalized decrease in bone mineral density." [HPO:curators] comment: The terms Osteopenia or Osteoporosis should be prefered to this term, which may be obsoleted in the future. is_a: HP:0004349 ! Reduced bone mineral density [Term] id: HP:0006463 name: Rickets of the lower limbs namespace: medical_genetics is_a: HP:0002814 ! Abnormality of the lower limbs [Term] id: HP:0006464 name: Mild humeral shortening namespace: medical_genetics is_a: HP:0003014 ! Short humeri [Term] id: HP:0006465 name: Periosteal thickening of long tubular bones namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities [Term] id: HP:0006466 name: Contractures of the ankles namespace: medical_genetics alt_id: HP:0006403 synonym: "Ankle contracture" EXACT [] synonym: "Ankle contractures" EXACT [] is_a: HP:0003028 ! Abnormality of the ankles [Term] id: HP:0006467 name: Limited shoulder movement namespace: medical_genetics is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0006468 name: Bilateral humeral hypoplasia namespace: medical_genetics is_a: HP:0005792 ! Humeral hypoplasia [Term] id: HP:0006470 name: Thin diaphyses of long bones namespace: medical_genetics is_a: HP:0006504 ! Abnormality involving the diaphyses of the limbs [Term] id: HP:0006471 name: Fixed elbow flexion namespace: medical_genetics is_a: HP:0005060 ! limited elbow flexion/extension [Term] id: HP:0006472 name: Short, broad, bowed long bones namespace: medical_genetics is_a: HP:0005647 ! Shortened bowed long bones [Term] id: HP:0006473 name: Anterior bowing of long bones namespace: medical_genetics is_a: HP:0006487 ! Bowing of the long bones [Term] id: HP:0006476 name: Abnormality of the pancreatic islet cells namespace: medical_genetics is_a: HP:0001732 ! Abnormality of the pancreas created_by: peter creation_date: 2008-03-28T04:41:00Z [Term] id: HP:0006477 name: Abnormality of the alveolar ridges namespace: medical_genetics synonym: "Defect in alveolar ridge" EXACT [] is_a: HP:0000164 ! Dental abnormality created_by: peter creation_date: 2008-03-28T04:44:00Z [Term] id: HP:0006478 name: Abnormality of teeth spacing namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality created_by: peter creation_date: 2008-03-28T04:44:00Z [Term] id: HP:0006479 name: Abnormality of the dental pulp namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality created_by: peter creation_date: 2008-03-28T04:46:00Z [Term] id: HP:0006480 name: Premature loss of teeth namespace: medical_genetics alt_id: HP:0006343 synonym: "Premature teeth loss" EXACT [] is_a: HP:0000701 ! Loss of teeth created_by: peter creation_date: 2008-03-28T05:03:00Z [Term] id: HP:0006481 name: Abnormality of deciduous teeth namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality created_by: peter creation_date: 2008-03-28T05:40:00Z [Term] id: HP:0006482 name: Abnormality of dental morphology namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality created_by: peter creation_date: 2008-03-28T05:41:00Z [Term] id: HP:0006483 name: Abnormal number of teeth namespace: medical_genetics def: "Humans usually have 20 primary teeth (also called deciduous or milk teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth." [HPO:curators] is_a: HP:0000164 ! Dental abnormality created_by: peter creation_date: 2008-03-28T05:44:00Z [Term] id: HP:0006485 name: Absence of incisors namespace: medical_genetics is_a: HP:0000676 ! Abnormality of the incisors created_by: peter creation_date: 2008-03-28T05:49:00Z [Term] id: HP:0006486 name: Abnormality of dental roots namespace: medical_genetics is_a: HP:0000164 ! Dental abnormality created_by: peter creation_date: 2008-03-28T05:52:00Z [Term] id: HP:0006487 name: Bowing of the long bones namespace: medical_genetics alt_id: HP:0006404 synonym: "Bowed long bones" EXACT [] is_a: HP:0002813 ! Abnormality of the extremities created_by: peter creation_date: 2008-03-28T05:56:00Z [Term] id: HP:0006488 name: Bowing of the arms namespace: medical_genetics is_a: HP:0002817 ! Abnormality of the upper limbs is_a: HP:0006487 ! Bowing of the long bones created_by: peter creation_date: 2008-03-28T05:57:00Z [Term] id: HP:0006489 name: Abnormality of the femoral metaphysis namespace: medical_genetics is_a: HP:0002823 ! Abnormality of the femora is_a: HP:0006490 ! Abnormality of lower-limb metaphyses created_by: peter creation_date: 2008-03-28T06:02:00Z [Term] id: HP:0006490 name: Abnormality of lower-limb metaphyses namespace: medical_genetics is_a: HP:0002814 ! Abnormality of the lower limbs is_a: HP:0006506 ! Abnormality involving the metaphyses of the limbs created_by: peter creation_date: 2008-03-28T06:02:00Z [Term] id: HP:0006491 name: Abnormality of the tibial metaphysis namespace: medical_genetics is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0006490 ! Abnormality of lower-limb metaphyses created_by: peter creation_date: 2008-03-28T06:03:00Z [Term] id: HP:0006492 name: Aplasia/Hypoplasia of the fibula namespace: medical_genetics alt_id: HP:0005672 alt_id: HP:0006421 synonym: "Fibular aplasia/hypoplasia" EXACT [] synonym: "Hypoplastic/aplastic fibulae" EXACT [] is_a: HP:0002991 ! Abnormality of the fibula is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs created_by: peter creation_date: 2008-03-28T06:03:00Z [Term] id: HP:0006493 name: Aplasia/Hypoplasia involving bones of the lower limbs namespace: medical_genetics is_a: HP:0002814 ! Abnormality of the lower limbs is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities created_by: peter creation_date: 2008-03-28T06:04:00Z [Term] id: HP:0006494 name: Aplasia/Hypoplasia involving bones of the feet namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs created_by: peter creation_date: 2008-03-28T06:08:00Z [Term] id: HP:0006495 name: Aplasia/Hypoplasia of the ulna namespace: medical_genetics is_a: HP:0002997 ! Abnormality of the ulna is_a: HP:0006503 ! Aplasia/Hypoplasia involving forearm bones created_by: peter creation_date: 2008-03-28T06:15:00Z [Term] id: HP:0006496 name: Aplasia/Hypoplasia involving bones of the upper limbs namespace: medical_genetics is_a: HP:0002817 ! Abnormality of the upper limbs is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities created_by: peter creation_date: 2008-03-28T06:16:00Z [Term] id: HP:0006498 name: Aplasia/Hypoplasia of the patella namespace: medical_genetics alt_id: HP:0005702 alt_id: HP:0005729 alt_id: HP:0006374 synonym: "Absent or hypoplastic patellae" EXACT [] synonym: "Absent/hypoplastic patella" EXACT [] synonym: "Aplastic or hypoplastic patellae" EXACT [] synonym: "Patellar aplasia/hypoplasia" EXACT [] is_a: HP:0003045 ! Abnormality of the patella is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs created_by: peter creation_date: 2008-03-28T06:25:00Z [Term] id: HP:0006499 name: Abnormality of femoral epiphyses namespace: medical_genetics is_a: HP:0002823 ! Abnormality of the femora is_a: HP:0006500 ! Abnormality involving the epiphyses of the lower limbs created_by: peter creation_date: 2008-03-28T06:28:00Z [Term] id: HP:0006500 name: Abnormality involving the epiphyses of the lower limbs namespace: medical_genetics is_a: HP:0002814 ! Abnormality of the lower limbs is_a: HP:0006505 ! Abnormality involving the epiphyses of the limbs created_by: peter creation_date: 2008-03-28T06:31:00Z [Term] id: HP:0006501 name: Aplasia/Hypoplasia of the radius namespace: medical_genetics is_a: HP:0002818 ! Abnormality of the radius is_a: HP:0006503 ! Aplasia/Hypoplasia involving forearm bones created_by: peter creation_date: 2008-03-28T06:32:00Z [Term] id: HP:0006502 name: Aplasia/Hypoplasia involving the carpal bones namespace: medical_genetics is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0005927 ! Aplasia/Hypoplasia involving bones of the hand created_by: peter creation_date: 2008-03-28T06:35:00Z [Term] id: HP:0006503 name: Aplasia/Hypoplasia involving forearm bones namespace: medical_genetics is_a: HP:0002973 ! Abnormality of the forearm is_a: HP:0006496 ! Aplasia/Hypoplasia involving bones of the upper limbs created_by: peter creation_date: 2008-03-28T06:45:00Z [Term] id: HP:0006504 name: Abnormality involving the diaphyses of the limbs namespace: medical_genetics is_a: HP:0000940 ! Abnormality of the diaphyses is_a: HP:0002813 ! Abnormality of the extremities created_by: peter creation_date: 2008-03-28T06:47:00Z [Term] id: HP:0006505 name: Abnormality involving the epiphyses of the limbs namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities is_a: HP:0005930 ! Abnormality of the epiphyses created_by: peter creation_date: 2008-03-28T06:48:00Z [Term] id: HP:0006506 name: Abnormality involving the metaphyses of the limbs namespace: medical_genetics is_a: HP:0000944 ! Abnormality of the metaphyses is_a: HP:0002813 ! Abnormality of the extremities created_by: peter creation_date: 2008-03-28T06:48:00Z [Term] id: HP:0006507 name: Aplasia/Hypoplasia of the humerus namespace: medical_genetics is_a: HP:0003063 ! Abnormality of the humeri is_a: HP:0006496 ! Aplasia/Hypoplasia involving bones of the upper limbs created_by: peter creation_date: 2008-03-29T09:15:00Z [Term] id: HP:0006508 name: Abnormality of tibial epiphyses namespace: medical_genetics is_a: HP:0002992 ! Abnormality of the tibia is_a: HP:0006500 ! Abnormality involving the epiphyses of the lower limbs created_by: peter creation_date: 2008-03-29T09:19:00Z [Term] id: HP:0006509 name: Diverticulosis of trachea namespace: medical_genetics is_a: HP:0002778 ! Abnormality of the trachea [Term] id: HP:0006510 name: Chronic obstructive pulmonary disease namespace: medical_genetics is_a: HP:0006536 ! Obstructive lung disease [Term] id: HP:0006511 name: Laryngeal stridor namespace: medical_genetics synonym: "Laryngeal stidor" EXACT [] is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0006512 name: Mild obstructive lung disease namespace: medical_genetics is_a: HP:0006536 ! Obstructive lung disease [Term] id: HP:0006514 name: Intraalveolar nodular calcifications namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0006515 name: Interstitial pneumonitis namespace: medical_genetics is_a: HP:0006530 ! Interstitial pulmonary disease [Term] id: HP:0006516 name: Hypersensitivity pneumonitis namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0006517 name: Congenital alveolar proteinosis namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0006518 name: Pulmonary venoocclusive disease namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0006519 name: Alveolar cell carcinoma namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0006520 name: Progressive pulmonary function impairment namespace: medical_genetics is_a: HP:0005952 ! Decreased pulmonary function [Term] id: HP:0006521 name: Pulmonary lymphangiectasia namespace: medical_genetics alt_id: HP:0006526 synonym: "Pulmonary lymphangiectasis" EXACT [] is_a: HP:0006529 ! Abnormal pulmonary lymphatics [Term] id: HP:0006522 name: Repeated pneumothoraces namespace: medical_genetics is_a: HP:0002107 ! Pneumothorax [Term] id: HP:0006523 name: Pulmonary fibrosis due to recurrent infections namespace: medical_genetics is_a: HP:0002206 ! Pulmonary fibrosis [Term] id: HP:0006524 name: Tracheobronchial leiomyomatosis namespace: medical_genetics is_a: HP:0005607 ! Abnormality of the tracheobronchial system [Term] id: HP:0006525 name: Lung segmentation defects namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0006527 name: Lymphoid interstitial pneumonia namespace: medical_genetics is_a: HP:0006530 ! Interstitial pulmonary disease [Term] id: HP:0006528 name: Chronic lung disease namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0006529 name: Abnormal pulmonary lymphatics namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0006530 name: Interstitial pulmonary disease namespace: medical_genetics alt_id: HP:0006513 alt_id: HP:0006547 synonym: "Interstitial lung disease" EXACT [] synonym: "Pulmonary function tests show interstitial lung disease" EXACT [] is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0006531 name: Pleural lymphangiectasia namespace: medical_genetics is_a: HP:0002103 ! Abnormality of the pleura [Term] id: HP:0006532 name: Pneumonia, recurrent episodes namespace: medical_genetics is_a: HP:0002783 ! Recurrent lower respiratory tract infections [Term] id: HP:0006533 name: Bronchodysplasia, mild namespace: medical_genetics is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0006534 name: Emphysema especially at bases namespace: medical_genetics is_a: HP:0002097 ! Emphysema [Term] id: HP:0006535 name: Recurrent intrapulmonary hemorrhage namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0006536 name: Obstructive lung disease namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0006538 name: Bronchopulmonary infection namespace: medical_genetics is_a: HP:0002205 ! Recurrent respiratory infections [Term] id: HP:0006539 name: Bronchial cartilage hypoplasia namespace: medical_genetics is_a: HP:0002109 ! Abnormality of the bronchi [Term] id: HP:0006540 name: Congenital cystic disease of the lung namespace: medical_genetics is_a: HP:0005948 ! Cystic lung disease [Term] id: HP:0006541 name: Chronic obstructive airway disease from birth namespace: medical_genetics is_a: HP:0006536 ! Obstructive lung disease [Term] id: HP:0006542 name: Respiratory insufficiency/failure namespace: medical_genetics is_a: HP:0002093 ! Respiratory insufficiency [Term] id: HP:0006543 name: Cardiorespiratory arrest namespace: medical_genetics is_a: HP:0005943 ! Respiratory arrest [Term] id: HP:0006544 name: Diaphragmatic sequestrum namespace: medical_genetics is_a: HP:0000775 ! Abnormality of the diaphragm [Term] id: HP:0006545 name: Cystic adenomatoid lung disease namespace: medical_genetics is_a: HP:0005948 ! Cystic lung disease [Term] id: HP:0006546 name: A subset of patients develop pulmonary arterial hypertension namespace: medical_genetics is_a: HP:0002092 ! Pulmonary hypertension [Term] id: HP:0006548 name: Pulmonary arteriovenous malformation namespace: medical_genetics alt_id: HP:0006537 synonym: "Pulmonary av malformation" EXACT [] is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0006549 name: Primary pulmonary dysgenesis, unilateral namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs [Term] id: HP:0006550 name: Pulmonary agenesis, usually bilateral namespace: medical_genetics is_a: HP:0006703 ! Aplasia/Hypoplasia of the lungs [Term] id: HP:0006551 name: Pulmonary lymphangiectasia, congenital namespace: medical_genetics is_a: HP:0006521 ! Pulmonary lymphangiectasia [Term] id: HP:0006552 name: Fibrocystic lung disease namespace: medical_genetics is_a: HP:0005948 ! Cystic lung disease [Term] id: HP:0006553 name: Biliary atresia, extrahepatic namespace: medical_genetics is_a: HP:0005912 ! Biliary duct atresia [Term] id: HP:0006554 name: Acute hepatic failure namespace: medical_genetics alt_id: HP:0006556 def: "Hepatic failure refers to the inability of the liver to perform its normal synthetic and metabolic functions, which can result in coagulopathy and alteration in the mental status of a previously healthy individual. Hepatic failure is defined as acute if there is onset of encephalopathy within 8 weeks of the onset of symptoms in a patient with a previously healthy liver." [HPO:curators] synonym: "Acute liver failure" EXACT [] is_a: HP:0001399 ! Hepatic failure [Term] id: HP:0006555 name: Hepatic steatosis, diffuse namespace: medical_genetics is_a: HP:0001397 ! Hepatic steatosis [Term] id: HP:0006557 name: Polycystic liver disease namespace: medical_genetics is_a: HP:0006706 ! Cystic liver disease [Term] id: HP:0006558 name: Decreased complex III activity in liver tissue namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006559 name: Liver calcifications namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006560 name: Biliary hyperplasia, extrahepatic and intrahepatic namespace: medical_genetics is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0006561 name: Lipid accumulation in hepatocytes namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006562 name: Viral hepatitis namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006563 name: Malformation of the hepatic ductal plate namespace: medical_genetics is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0006564 name: Fluctuating hepatomegaly namespace: medical_genetics is_a: HP:0002240 ! Hepatomegaly [Term] id: HP:0006565 name: Liver biopsy shows increased lipid droplets namespace: medical_genetics is_a: HP:0006561 ! Lipid accumulation in hepatocytes [Term] id: HP:0006566 name: Neonatal cholestatic liver disease namespace: medical_genetics is_a: HP:0002611 ! Cholestatic liver disease [Term] id: HP:0006567 name: Elevated liver function tests may occur namespace: medical_genetics is_a: HP:0003156 ! Increased liver function tests [Term] id: HP:0006568 name: Increased liver glycogen content namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006570 name: Decreased liver function, progressive namespace: medical_genetics is_a: HP:0001410 ! Decreased liver function [Term] id: HP:0006571 name: Intrahepatic duct deficiency namespace: medical_genetics is_a: HP:0001080 ! Biliary tract abnormality [Term] id: HP:0006572 name: Subacute progressive viral hepatitis namespace: medical_genetics is_a: HP:0006562 ! Viral hepatitis [Term] id: HP:0006573 name: Macro- and microvesicular steatosis, acute namespace: medical_genetics is_a: HP:0001414 ! Microvesicular steatosis [Term] id: HP:0006574 name: Hepatic arteriovenous malformation namespace: medical_genetics alt_id: HP:0006569 synonym: "Liver arteriovenous malformation" EXACT [] is_a: HP:0006707 ! Abnormality of the hepatic vasculature [Term] id: HP:0006575 name: Intrahepatic cholestasis with episodic jaundice namespace: medical_genetics is_a: HP:0001406 ! Intrahepatic cholestasis [Term] id: HP:0006576 name: Hepatic vascular malformations namespace: medical_genetics is_a: HP:0006707 ! Abnormality of the hepatic vasculature [Term] id: HP:0006577 name: Macronodular cirrhosis namespace: medical_genetics is_a: HP:0001394 ! Cirrhosis [Term] id: HP:0006578 name: Subclinical abnormal liver function tests namespace: medical_genetics is_a: HP:0001411 ! Abnormal liver function tests [Term] id: HP:0006579 name: Prolonged neonatal jaundice namespace: medical_genetics is_a: HP:0000986 ! Neonatal jaundice [Term] id: HP:0006580 name: Mild portal fibrosis namespace: medical_genetics is_a: HP:0004297 ! Abnormality of the biliary system [Term] id: HP:0006581 name: Liver tissue shows 80 to 99% depletion of mitochondrial DNA namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006582 name: Reye syndrome-like episodes namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver [Term] id: HP:0006583 name: Fatal liver failure in infancy namespace: medical_genetics is_a: HP:0001399 ! Hepatic failure [Term] id: HP:0006584 name: Small abnormally formed scapulae namespace: medical_genetics alt_id: HP:0006629 synonym: "Small abnormally formed scapula" EXACT [] is_a: HP:0000882 ! Hypoplastic scapulae [Term] id: HP:0006585 name: Thin, dysplastic bipartite clavicles namespace: medical_genetics is_a: HP:0000889 ! Abnormality of the clavicules [Term] id: HP:0006587 name: Long, straight clavicles namespace: medical_genetics is_a: HP:0000890 ! Long clavicles [Term] id: HP:0006588 name: Low chest circumference namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0006589 name: Flaring of lower rib cage namespace: medical_genetics is_a: HP:0000904 ! Flaring of rib cage [Term] id: HP:0006590 name: Hypoplastic or prematurely closed sternal sutures namespace: medical_genetics is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0006591 name: Flat or absent glenoid fossae namespace: medical_genetics is_a: HP:0000911 ! Flat glenoid fossa [Term] id: HP:0006592 name: Long, slender, straight clavicles namespace: medical_genetics is_a: HP:0000890 ! Long clavicles [Term] id: HP:0006593 name: Anomalous rib insertion to vertebrae namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006595 name: Humero-scapulo synostosis namespace: medical_genetics is_a: HP:0000782 ! Abnormality of the scapulae is_a: HP:0003063 ! Abnormality of the humeri [Term] id: HP:0006596 name: Restricted chest movement namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0006597 name: Diaphragmatic paralysis namespace: medical_genetics is_a: HP:0000775 ! Abnormality of the diaphragm [Term] id: HP:0006598 name: Irregular ossification at anterior rib ends namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006599 name: Medial widening of clavicles namespace: medical_genetics is_a: HP:0000889 ! Abnormality of the clavicules [Term] id: HP:0006600 name: Progressive calcification of costochondral cartilage namespace: medical_genetics is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0006601 name: Anteriorly splayed ribs namespace: medical_genetics is_a: HP:0000904 ! Flaring of rib cage [Term] id: HP:0006603 name: Flared, irregular rib ends namespace: medical_genetics is_a: HP:0000904 ! Flaring of rib cage [Term] id: HP:0006604 name: Familial congenital diaphragmatic hernia namespace: medical_genetics is_a: HP:0000776 ! Diaphragmatic hernia [Term] id: HP:0006606 name: Irregular chondrocostal junctions namespace: medical_genetics is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0006607 name: Precocious costochondral ossification namespace: medical_genetics is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0006608 name: Midclavicular hypoplasia namespace: medical_genetics is_a: HP:0000898 ! Hypoplastic clavicles [Term] id: HP:0006609 name: Hypoplastic nipples and areolae namespace: medical_genetics is_a: HP:0002557 ! Hypoplastic nipples [Term] id: HP:0006610 name: Wide intermamillary distance namespace: medical_genetics alt_id: HP:0000779 alt_id: HP:0001554 synonym: "Wide-spaced nipples" EXACT [] synonym: "Widely spaced nipples" EXACT [] synonym: "Widely-spaced nipples" EXACT [] is_a: HP:0004404 ! Abnormality of the nipples [Term] id: HP:0006611 name: Decreased number of sternal ossification centers namespace: medical_genetics is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0006612 name: Clavicle pseudoarthrosis namespace: medical_genetics alt_id: HP:0006661 def: "Pseudarthrosis, a false joint associated with abnormal movement often related to a spontaneous congenital fracture which progresses to non union. This term refers to pseudarthrosis affecting the clavicle." [HPO:curators] synonym: "Pseudoarthrosis of clavicle" EXACT [] is_a: HP:0000889 ! Abnormality of the clavicules [Term] id: HP:0006613 name: Mild pectus excavatum namespace: medical_genetics alt_id: HP:0006617 def: "A mild degree of pectus excavatum (defect of the chest wall characterized by depression of the sternum)." [HPO:curators] synonym: "Slight pectus excavatum" EXACT [] is_a: HP:0000767 ! Pectus excavatum [Term] id: HP:0006615 name: Absent in utero rib ossification namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006619 name: Anterior rib punctate calcifications namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006620 name: Enlargement and bulging of the costochondral junction namespace: medical_genetics is_a: HP:0000920 ! Enlargement of the costochondral junction [Term] id: HP:0006621 name: Congenital, upward displacement of the scapula namespace: medical_genetics is_a: HP:0000782 ! Abnormality of the scapulae [Term] id: HP:0006622 name: Anterior and posterior rib cupping namespace: medical_genetics is_a: HP:0000922 ! Posterior rib cupping [Term] id: HP:0006623 name: Widened, sclerotic costochondral joints namespace: medical_genetics is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0006624 name: Sternal ossification center abnormalities namespace: medical_genetics is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0006625 name: Breast cancer, frequently bilateral and multifocal namespace: medical_genetics is_a: HP:0003002 ! Breast cancer [Term] id: HP:0006626 name: Narrow, bell-shaped thorax namespace: medical_genetics is_a: HP:0001591 ! Bell-shaped chest [Term] id: HP:0006627 name: Decreased rib number namespace: medical_genetics is_a: HP:0006712 ! Aplasia/Hypoplasia of the ribs [Term] id: HP:0006628 name: Absent sternal ossification namespace: medical_genetics alt_id: HP:0006666 synonym: "Lack of sternal ossification" EXACT [] is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0006631 name: Hypoplastic distal segments of scapulae namespace: medical_genetics is_a: HP:0000882 ! Hypoplastic scapulae [Term] id: HP:0006632 name: Hypoplastic glenoid fossa namespace: medical_genetics is_a: HP:0000911 ! Flat glenoid fossa [Term] id: HP:0006633 name: Glenoid hypoplasia namespace: medical_genetics is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0006634 name: Anterior cupping and sclerosis of ribs namespace: medical_genetics is_a: HP:0000907 ! Anterior rib cupping [Term] id: HP:0006635 name: Anterior and posterior rib flaring namespace: medical_genetics is_a: HP:0000904 ! Flaring of rib cage [Term] id: HP:0006636 name: Hypoplastic or missing ribs namespace: medical_genetics is_a: HP:0000908 ! Hypoplastic ribs [Term] id: HP:0006637 name: Sternal punctate calcifications namespace: medical_genetics is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0006638 name: Midclavicular aplasia namespace: medical_genetics is_a: HP:0000898 ! Hypoplastic clavicles [Term] id: HP:0006639 name: Pectus carinatum, severe namespace: medical_genetics is_a: HP:0000768 ! Pectus carinatum [Term] id: HP:0006640 name: Multiple rib fractures namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006641 name: Prominent floating ribs namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006642 name: Large sternal ossification centers namespace: medical_genetics is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0006643 name: Fused sternal ossification centers namespace: medical_genetics is_a: HP:0000766 ! Abnormality of the sternum [Term] id: HP:0006644 name: Thoracic dysplasia namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0006645 name: Thin, long clavicles namespace: medical_genetics is_a: HP:0000890 ! Long clavicles [Term] id: HP:0006646 name: Costal cartilage calcification namespace: medical_genetics is_a: HP:0006662 ! Cartilaginous ossification of rib [Term] id: HP:0006647 name: Congenital microthorax namespace: medical_genetics is_a: HP:0001547 ! Abnormality of the morphology or size of the rib cage [Term] id: HP:0006648 name: Mild clavicular sclerosis namespace: medical_genetics is_a: HP:0000889 ! Abnormality of the clavicules [Term] id: HP:0006649 name: Costochondral pain namespace: medical_genetics is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0006650 name: Thickening of the lateral border of the scapula namespace: medical_genetics is_a: HP:0000782 ! Abnormality of the scapulae [Term] id: HP:0006651 name: Short, broad clavicles namespace: medical_genetics is_a: HP:0000916 ! Broad clavicles [Term] id: HP:0006652 name: Breast and nipple hypoplasia/aplasia namespace: medical_genetics is_a: HP:0002557 ! Hypoplastic nipples [Term] id: HP:0006654 name: Absent sternal mineralization namespace: medical_genetics is_a: HP:0006714 ! Aplasia/Hypoplasia of the sternum [Term] id: HP:0006655 name: Rib segmentation abnormalities namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006656 name: Anterior flaring of ribs namespace: medical_genetics is_a: HP:0000904 ! Flaring of rib cage [Term] id: HP:0006657 name: Hypoplasia of first ribs namespace: medical_genetics alt_id: HP:0006614 alt_id: HP:0006653 synonym: "Hypoplastic first rib" EXACT [] synonym: "Hypoplastic first ribs" EXACT [] is_a: HP:0000908 ! Hypoplastic ribs [Term] id: HP:0006658 name: Irregular costochondral margins namespace: medical_genetics is_a: HP:0000919 ! Abnormalities of the costochondral junction [Term] id: HP:0006659 name: Internally rotated shoulders namespace: medical_genetics is_a: HP:0003043 ! Abnormality of the shoulder [Term] id: HP:0006660 name: Aplastic clavicles namespace: medical_genetics is_a: HP:0000898 ! Hypoplastic clavicles [Term] id: HP:0006662 name: Cartilaginous ossification of rib namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006663 name: Rounded, sloping shoulders namespace: medical_genetics is_a: HP:0001556 ! Sloping shoulders [Term] id: HP:0006664 name: Constricted, bell-shaped thorax namespace: medical_genetics is_a: HP:0001591 ! Bell-shaped chest [Term] id: HP:0006665 name: 'Coat hanger' deformity of lower ribs namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs [Term] id: HP:0006667 name: Broad, slightly short ribs namespace: medical_genetics synonym: "Wide, slightly short ribs" RELATED [] is_a: HP:0000950 ! Broad short ribs [Term] id: HP:0006668 name: Twelfth rib hypoplasia namespace: medical_genetics is_a: HP:0000908 ! Hypoplastic ribs [Term] id: HP:0006669 name: Absent/rudimentary nipples namespace: medical_genetics alt_id: HP:0006602 synonym: "Nipples absent or rudimentary" EXACT [] is_a: HP:0006709 ! Aplasia/Hypoplasia of the nipples [Term] id: HP:0006670 name: Impaired myocardial contractility namespace: medical_genetics is_a: HP:0006673 ! Reduced systolic function [Term] id: HP:0006671 name: Paroxysmal atrial tachycardia namespace: medical_genetics is_a: HP:0004763 ! Paroxysmal supraventricular tachycardia [Term] id: HP:0006672 name: Congenital heart block namespace: medical_genetics is_a: HP:0001668 ! Heart block [Term] id: HP:0006673 name: Reduced systolic function namespace: medical_genetics is_a: HP:0001635 ! Congestive heart failure [Term] id: HP:0006674 name: Partial atrially displaced right ventricle namespace: medical_genetics is_a: HP:0001707 ! Right ventricular abnormality [Term] id: HP:0006675 name: Atrioventricular valves thickened namespace: medical_genetics is_a: HP:0006705 ! Abnormality of the atrioventricular valves [Term] id: HP:0006676 name: Ventricular preexcitation namespace: medical_genetics is_a: HP:0004308 ! Ventricular arrhythmia is_a: HP:0004309 ! Pre-excitation syndromes [Term] id: HP:0006677 name: Short pr interval and prolonged qrs, with slurred-up stroke of the r wave on ekg namespace: medical_genetics is_a: HP:0005165 ! Shortened P-R interval on EKG [Term] id: HP:0006679 name: Granulomatous coronary arteritis namespace: medical_genetics is_a: HP:0006704 ! Abnormality of the coronary arteries [Term] id: HP:0006680 name: Hypoplastic/atretic transverse aortic arch namespace: medical_genetics is_a: HP:0001679 ! Abnormalities of the aorta [Term] id: HP:0006681 name: Absent atrioventricular node namespace: medical_genetics is_a: HP:0005142 ! Atrioventricular nodal disease [Term] id: HP:0006682 name: Ventricular extrasystoles namespace: medical_genetics alt_id: HP:0006678 def: "Premature ventricular contractions (PVC) or ventricular extrasystoles are premature contractions of the heart that arise in response to an impulse in the ventricles rather than the normal impulse from the sinoatrial (SA) node." [HPO:curators] synonym: "Premature ventricular contractions" EXACT [] is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0006683 name: Ventricular filling abnormal namespace: medical_genetics is_a: HP:0001713 ! Abnormality of the cardiac ventricles [Term] id: HP:0006684 name: Higher incidence of multiple accessory pathways namespace: medical_genetics is_a: HP:0004309 ! Pre-excitation syndromes [Term] id: HP:0006685 name: Endocardial fibrosis namespace: medical_genetics alt_id: HP:0005169 synonym: "Endomyocardial fibrosis" EXACT [] is_a: HP:0004306 ! Abnormality of the endocardium [Term] id: HP:0006687 name: Tortuosity and elongation, all major arteries and aorta namespace: medical_genetics is_a: HP:0004948 ! Vascular tortuosity [Term] id: HP:0006688 name: Paroxysmal tachycardia namespace: medical_genetics is_a: HP:0001649 ! Tachycardia [Term] id: HP:0006689 name: Bacterial endocarditis susceptible namespace: medical_genetics is_a: HP:0004306 ! Abnormality of the endocardium [Term] id: HP:0006690 name: Myocardial calcification namespace: medical_genetics is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0006691 name: Pulmonic valve myxoma namespace: medical_genetics is_a: HP:0001641 ! Abnormality of the pulmonary valve [Term] id: HP:0006692 name: Short and irregular chordae namespace: medical_genetics is_a: HP:0001713 ! Abnormality of the cardiac ventricles [Term] id: HP:0006693 name: Myocardial steatosis namespace: medical_genetics is_a: HP:0001627 ! Cardiac abnormality [Term] id: HP:0006694 name: Early progressive calcific cardiac valvular disease namespace: medical_genetics is_a: HP:0005146 ! Calcifications of the cardiac valves [Term] id: HP:0006695 name: Tricuspid and mitral valves are replaced by a single inlet valve namespace: medical_genetics is_a: HP:0006705 ! Abnormality of the atrioventricular valves [Term] id: HP:0006696 name: Polymorphic and polytopic ventricular extrasystoles namespace: medical_genetics is_a: HP:0004308 ! Ventricular arrhythmia [Term] id: HP:0006697 name: Endocardial cushion defect namespace: medical_genetics is_a: HP:0004306 ! Abnormality of the endocardium [Term] id: HP:0006698 name: Ventricular aneurysms namespace: medical_genetics is_a: HP:0001713 ! Abnormality of the cardiac ventricles [Term] id: HP:0006699 name: Ectopic supraventricular rhythms namespace: medical_genetics is_a: HP:0005115 ! Supraventricular arrhythmia [Term] id: HP:0006702 name: Spontaneous coronary artery dissection namespace: medical_genetics is_a: HP:0006704 ! Abnormality of the coronary arteries [Term] id: HP:0006703 name: Aplasia/Hypoplasia of the lungs namespace: medical_genetics is_a: HP:0002088 ! Abnormality of the lungs created_by: peter creation_date: 2008-03-29T03:17:00Z [Term] id: HP:0006704 name: Abnormality of the coronary arteries namespace: medical_genetics is_a: HP:0002620 ! Arterial abnormalities created_by: peter creation_date: 2008-03-29T03:33:00Z [Term] id: HP:0006705 name: Abnormality of the atrioventricular valves namespace: medical_genetics is_a: HP:0001654 ! Abnormality of the heart valves created_by: peter creation_date: 2008-03-29T03:34:00Z [Term] id: HP:0006706 name: Cystic liver disease namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver created_by: peter creation_date: 2008-03-29T03:37:00Z [Term] id: HP:0006707 name: Abnormality of the hepatic vasculature namespace: medical_genetics is_a: HP:0001392 ! Abnormality of the liver created_by: peter creation_date: 2008-03-29T03:41:00Z [Term] id: HP:0006708 name: Pectus excavatum/carinatum namespace: medical_genetics alt_id: HP:0006586 alt_id: HP:0006594 alt_id: HP:0006605 alt_id: HP:0006630 synonym: "Pectus carinatum or pectus excavatum" EXACT [] synonym: "Pectus excavatum or carinatum" EXACT [] synonym: "Pectus excavatum or pectus carinatum" EXACT [] is_a: HP:0000766 ! Abnormality of the sternum created_by: peter creation_date: 2008-03-29T03:45:00Z [Term] id: HP:0006709 name: Aplasia/Hypoplasia of the nipples namespace: medical_genetics is_a: HP:0004404 ! Abnormality of the nipples created_by: peter creation_date: 2008-03-29T03:51:00Z [Term] id: HP:0006710 name: Aplasia/Hypoplasia of the clavicles namespace: medical_genetics is_a: HP:0000889 ! Abnormality of the clavicules is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax created_by: peter creation_date: 2008-03-29T03:53:00Z [Term] id: HP:0006711 name: Aplasia/Hypoplasia involving bones of the thorax namespace: medical_genetics is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton created_by: peter creation_date: 2008-03-29T03:53:00Z [Term] id: HP:0006712 name: Aplasia/Hypoplasia of the ribs namespace: medical_genetics is_a: HP:0000772 ! Abnormality of the ribs is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax created_by: peter creation_date: 2008-03-29T03:54:00Z [Term] id: HP:0006713 name: Aplasia/Hypoplasia of the scapulae namespace: medical_genetics is_a: HP:0000782 ! Abnormality of the scapulae is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax created_by: peter creation_date: 2008-03-29T03:58:00Z [Term] id: HP:0006714 name: Aplasia/Hypoplasia of the sternum namespace: medical_genetics is_a: HP:0000766 ! Abnormality of the sternum is_a: HP:0006711 ! Aplasia/Hypoplasia involving bones of the thorax created_by: peter creation_date: 2008-03-29T04:01:00Z [Term] id: HP:0006715 name: Tympanic nerve tumors namespace: medical_genetics is_a: HP:0004375 ! Tumors of the nervous system [Term] id: HP:0006716 name: Hereditary nonpolyposis colorectal carcinoma namespace: medical_genetics is_a: HP:0007378 ! Gastrointestinal tract tumors [Term] id: HP:0006717 name: Peripheral neuroepithelioma namespace: medical_genetics is_a: HP:0004375 ! Tumors of the nervous system [Term] id: HP:0006718 name: Increased risk of colorectal cancer namespace: medical_genetics is_a: HP:0007378 ! Gastrointestinal tract tumors [Term] id: HP:0006719 name: Benign gastrointestinal tract tumors namespace: medical_genetics is_a: HP:0007378 ! Gastrointestinal tract tumors [Term] id: HP:0006721 name: Acute lymphatic leukemia namespace: medical_genetics is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0006722 name: Small intestine carcinoid namespace: medical_genetics is_a: HP:0007378 ! Gastrointestinal tract tumors [Term] id: HP:0006723 name: Intestinal carcinoid namespace: medical_genetics is_a: HP:0007378 ! Gastrointestinal tract tumors [Term] id: HP:0006724 name: Acute myelocytic leukemia namespace: medical_genetics is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0006725 name: Pancreatic adenocarcinoma namespace: medical_genetics is_a: HP:0002894 ! Pancreatic cancer [Term] id: HP:0006726 name: Increased risk of leukemia namespace: medical_genetics is_a: HP:0001909 ! Leukemia [Term] id: HP:0006727 name: T-cell acute lymphoblastic leukemias namespace: medical_genetics is_a: HP:0004803 ! Acute lymphoblastic leukemia [Term] id: HP:0006728 name: Acute myelogenous leukemia namespace: medical_genetics is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0006729 name: Retroperitoneal chemodectomas namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0006730 name: Myelodysplastic syndrome namespace: medical_genetics is_a: HP:0002863 ! Myelodysplasia [Term] id: HP:0006731 name: Follicular thyroid carcinoma namespace: medical_genetics is_a: HP:0002890 ! Thyroid carcinoma [Term] id: HP:0006732 name: Renal cell carcinoma, solitary papillary type ii namespace: medical_genetics is_a: HP:0005584 ! Renal cell carcinoma [Term] id: HP:0006733 name: Acute megakaryocytic leukemia namespace: medical_genetics is_a: HP:0002488 ! Acute leukemia [Term] id: HP:0006734 name: B-cell chronic lymphocytic leukemia namespace: medical_genetics is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0006735 name: Renal cortical adenoma namespace: medical_genetics is_a: HP:0009726 ! Renal tumors [Term] id: HP:0006736 name: Xeroderma pigmentosum complementation group G namespace: medical_genetics is_a: HP:0007415 ! Xeroderma pigmentosum [Term] id: HP:0006737 name: Pheochromocytoma, extraadrenal namespace: medical_genetics alt_id: HP:0006764 def: "Pheochromocytoma not originating from the adrenal medulla but from another source such as from chromaffin cells in or about sympathetic ganglia." [HPO:curators] synonym: "Pheochromocytomas, extraadrenal" EXACT [] is_a: HP:0002666 ! Pheochromocytoma [Term] id: HP:0006738 name: Neuroblastoma, arises anywhere along the sympathetic chain namespace: medical_genetics is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006739 name: Squamous cell carcinoma of the skin namespace: medical_genetics alt_id: HP:0007614 def: "Squamous cell carcinoma of the skin is a malignant tumor of squamous epithelium." [HPO:curators] synonym: "Squamous skin carcinoma" EXACT [] is_a: HP:0002860 ! Squamous cell carcinoma is_a: HP:0008069 ! Dermatological tumors [Term] id: HP:0006740 name: Transitional cell carcinoma of the bladder namespace: medical_genetics synonym: "Transitional cell bladder carcinoma" EXACT [] is_a: HP:0009725 ! Bladder tumors [Term] id: HP:0006741 name: Increased risk of malignancy namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0006742 name: Congenital neuroblastoma namespace: medical_genetics is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006743 name: Embryonal rhabdomyosarcoma namespace: medical_genetics is_a: HP:0002859 ! Rhabdomyosarcoma [Term] id: HP:0006744 name: Adrenocortical carcinoma namespace: medical_genetics alt_id: HP:0006759 synonym: "Adrenocortical carcinomas" EXACT [] is_a: HP:0002889 ! Adrenal carcinoma [Term] id: HP:0006745 name: Gonadoblastoma risk namespace: medical_genetics is_a: HP:0000150 ! Gonadoblastoma [Term] id: HP:0006746 name: Neurofibromatosis namespace: medical_genetics is_a: HP:0004375 ! Tumors of the nervous system [Term] id: HP:0006747 name: Ganglioneuroblastoma namespace: medical_genetics is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006748 name: Pheochromocytoma, adrenal namespace: medical_genetics alt_id: HP:0006752 def: "Pheochromocytoma originating from the adrenal medulla." [HPO:curators] synonym: "Pheochromocytomas, adrenal" EXACT [] is_a: HP:0002666 ! Pheochromocytoma [Term] id: HP:0006749 name: Malignant gastrointestinal tract tumors namespace: medical_genetics is_a: HP:0007378 ! Gastrointestinal tract tumors [Term] id: HP:0006750 name: Increased hepatocellular carcinoma risk namespace: medical_genetics is_a: HP:0001402 ! Hepatocellular carcinoma [Term] id: HP:0006751 name: Spinal/paraspinal neurofibromas namespace: medical_genetics is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0006753 name: Increased gastric cancer namespace: medical_genetics is_a: HP:0007378 ! Gastrointestinal tract tumors [Term] id: HP:0006754 name: Posterior fossa and upper cervical meningiomas namespace: medical_genetics is_a: HP:0004375 ! Tumors of the nervous system [Term] id: HP:0006755 name: Cutaneous leiomyosarcoma namespace: medical_genetics is_a: HP:0008069 ! Dermatological tumors [Term] id: HP:0006756 name: Diffuse leiomyomatosis namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0006757 name: Increased alveolar cell carcinoma namespace: medical_genetics is_a: HP:0006519 ! Alveolar cell carcinoma [Term] id: HP:0006758 name: Malignant genitourinary tract tumors namespace: medical_genetics is_a: HP:0007379 ! Genitourinary tract tumors [Term] id: HP:0006760 name: Chronic lymphocytic leukemia namespace: medical_genetics is_a: HP:0005558 ! Chronic leukemia [Term] id: HP:0006761 name: Hemangioblastoma, sporadic cerebellar namespace: medical_genetics is_a: HP:0004375 ! Tumors of the nervous system [Term] id: HP:0006762 name: Renal pelvic carcinoma namespace: medical_genetics is_a: HP:0005933 ! Kidney cancer [Term] id: HP:0006763 name: Anal canal squamous carcinoma namespace: medical_genetics is_a: HP:0007378 ! Gastrointestinal tract tumors [Term] id: HP:0006765 name: Increased risk of chondrosarcoma namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0006766 name: Papillary renal cell carcinoma namespace: medical_genetics is_a: HP:0005584 ! Renal cell carcinoma [Term] id: HP:0006767 name: Prolactin-secreting pituitary adenoma namespace: medical_genetics is_a: HP:0002893 ! Pituitary adenoma [Term] id: HP:0006768 name: Localized neuroblastoma namespace: medical_genetics is_a: HP:0003006 ! Neuroblastoma [Term] id: HP:0006769 name: Myxoid subcutaneous tumors namespace: medical_genetics is_a: HP:0008069 ! Dermatological tumors [Term] id: HP:0006770 name: Sporadic, nonpapillary renal cell carcinoma namespace: medical_genetics is_a: HP:0005584 ! Renal cell carcinoma [Term] id: HP:0006771 name: Duodenal carcinoma namespace: medical_genetics is_a: HP:0002672 ! Gastrointestinal carcinoma [Term] id: HP:0006772 name: Multiple bilateral renal angiomyolipoma namespace: medical_genetics def: "Angiomyolipoma is a benign renal neoplasm composed of fat, vascular, and smooth muscle elements." [HPO:curators] is_a: HP:0009726 ! Renal tumors [Term] id: HP:0006773 name: Cutaneous angiolipomas namespace: medical_genetics is_a: HP:0008069 ! Dermatological tumors [Term] id: HP:0006774 name: Ovarian papillary adenocarcinoma namespace: medical_genetics is_a: HP:0007379 ! Genitourinary tract tumors [Term] id: HP:0006775 name: Increased risk for multiple myeloma namespace: medical_genetics is_a: HP:0004377 ! Hematological cancer [Term] id: HP:0006776 name: Multiple papillary renal cell carcinomas namespace: medical_genetics is_a: HP:0005584 ! Renal cell carcinoma [Term] id: HP:0006777 name: Especially prone to malignant melanoma namespace: medical_genetics def: "An excessive susceptibility to malignant melanoma." [HPO:curators] is_a: HP:0002861 ! Malignant melanoma [Term] id: HP:0006778 name: Benign genitourinary tract tumors namespace: medical_genetics is_a: HP:0007379 ! Genitourinary tract tumors [Term] id: HP:0006779 name: Alveolar rhabdomyosarcoma namespace: medical_genetics is_a: HP:0002859 ! Rhabdomyosarcoma [Term] id: HP:0006780 name: Parathyroid carcinomas namespace: medical_genetics is_a: HP:0002664 ! Oncology [Term] id: HP:0006781 name: Hurthle cell thyroid adenoma namespace: medical_genetics is_a: HP:0000854 ! Thyroid adenoma [Term] id: HP:0006782 name: Malignant eosinophil proliferation namespace: medical_genetics is_a: HP:0004377 ! Hematological cancer [Term] id: HP:0006783 name: Posterior pharyngeal cleft namespace: medical_genetics is_a: HP:0000600 ! Abnormality of the pharynx [Term] id: HP:0006784 name: Paranasal sinus hypoplasia namespace: medical_genetics is_a: HP:0005453 ! Absent/hypoplastic paranasal sinuses [Term] id: HP:0006785 name: Limb-girdle muscular dystrophy namespace: medical_genetics def: "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders)." [HPO:curators] is_a: HP:0003797 ! Limb-girdle muscle atrophy [Term] id: HP:0006786 name: Amyotrophy, distal, severe namespace: medical_genetics def: "Severe muscular atrophy of distal limb muscles." [HPO:curators] is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0006787 name: Axonal degeneration in older patients namespace: medical_genetics is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0006788 name: Delayed early motor milestones namespace: medical_genetics is_a: HP:0002130 ! Delayed motor milestones [Term] id: HP:0006789 name: Mitochondrial encephalopathy namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006790 name: Cerebral cortex with spongiform changes namespace: medical_genetics is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0006791 name: Disproportionately small cerebral cortex namespace: medical_genetics is_a: HP:0002472 ! Small cerebral cortex [Term] id: HP:0006793 name: Mild to moderate psychomotor delay namespace: medical_genetics is_a: HP:0001255 ! Psychomotor retardation [Term] id: HP:0006794 name: Loss of ability to walk in first decade namespace: medical_genetics is_a: HP:0002505 ! Progressive inability to walk [Term] id: HP:0006795 name: Decreased spontaneous movements at birth namespace: medical_genetics is_a: HP:0002603 ! Decreased spontaneous movements [Term] id: HP:0006796 name: Dilatation of lateral cerebral ventricles namespace: medical_genetics is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0006797 name: Psychomotor regression, progressive namespace: medical_genetics is_a: HP:0002489 ! Psychomotor regression [Term] id: HP:0006798 name: Lack of language development namespace: medical_genetics is_a: HP:0000750 ! Impaired language development [Term] id: HP:0006799 name: Basal ganglia cysts namespace: medical_genetics alt_id: HP:0007244 synonym: "Cystic lesions in the basal ganglia" EXACT [] is_a: HP:0002134 ! Abnormality of the basal ganglia is_a: HP:0006952 ! Structural abnormalities in the basal ganglia [Term] id: HP:0006800 name: Dysplastic or absent corpus callosum namespace: medical_genetics is_a: HP:0001274 ! Agenesis of corpus callosum [Term] id: HP:0006801 name: Hyperactive deep tendon reflexes namespace: medical_genetics is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0006802 name: Anterior horn cell disease namespace: medical_genetics is_a: HP:0002398 ! Degeneration of anterior horn cells [Term] id: HP:0006803 name: Vivid hallucinations namespace: medical_genetics is_a: HP:0000738 ! Hallucinations [Term] id: HP:0006805 name: Large corpus callosum namespace: medical_genetics is_a: HP:0001273 ! Abnormality of the corpus callosum [Term] id: HP:0006807 name: Thick, short corpus callosum namespace: medical_genetics is_a: HP:0001273 ! Abnormality of the corpus callosum [Term] id: HP:0006808 name: Hypomyelination of the brain namespace: medical_genetics is_a: HP:0003429 ! Hypomyelination [Term] id: HP:0006809 name: Posterior fossa malformations namespace: medical_genetics is_a: HP:0000932 ! Abnormality of the posterior fossa [Term] id: HP:0006810 name: Late extrapyramidal signs namespace: medical_genetics is_a: HP:0002071 ! Extrapyramidal signs [Term] id: HP:0006811 name: Choreoathetosis of the face, trunk, extremities namespace: medical_genetics is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0006812 name: White mater abnormalities in the posterior periventricular region namespace: medical_genetics is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0006813 name: Unilateral clonic seizures namespace: medical_genetics is_a: HP:0002266 ! Focal clonic seizures [Term] id: HP:0006815 name: Peripheral sensory neuropathy, severe namespace: medical_genetics is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0006816 name: Cerebral aneurysm, often multiple namespace: medical_genetics is_a: HP:0004944 ! Cerebral artery aneurysm [Term] id: HP:0006817 name: Cerebellar vermis aplasia/hypoplasia namespace: medical_genetics alt_id: HP:0007080 def: "Absence or underdevelopment of the cerebellar vermis." [HPO:curators] synonym: "Cerebellar vermis aplasia/ hypoplasia" EXACT [] is_a: HP:0001320 ! Cerebellar vermis hypoplasia [Term] id: HP:0006818 name: Type I lissencephaly namespace: medical_genetics synonym: "Lissencephaly, type I" EXACT [] is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0006819 name: Pseudobulbar syndrome namespace: medical_genetics is_a: HP:0002200 ! Pseudobulbar signs [Term] id: HP:0006820 name: Hyperreflexia in some namespace: medical_genetics is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0006821 name: Polymicrogyria, anterior to posterior gradient namespace: medical_genetics is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0006822 name: Mental deterioration in a subset of patients namespace: medical_genetics is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0006823 name: Mild cortical atrophy on ct or mri namespace: medical_genetics is_a: HP:0002120 ! Cerebral cortical atrophy [Term] id: HP:0006824 name: Cranial nerve paralysis namespace: medical_genetics is_a: HP:0001353 ! Cranial nerve palsies [Term] id: HP:0006825 name: Pallor of dorsal columns of the spinal cord namespace: medical_genetics is_a: HP:0002143 ! Abnormality of the spinal cord and vertebral column [Term] id: HP:0006826 name: Motor developmental delay, severe namespace: medical_genetics is_a: HP:0001270 ! Motor retardation [Term] id: HP:0006827 name: MRI shows atrophy of the spinal cord namespace: medical_genetics is_a: HP:0002143 ! Abnormality of the spinal cord and vertebral column [Term] id: HP:0006828 name: Developmental regression after age 2 years namespace: medical_genetics is_a: HP:0002376 ! Developmental regression [Term] id: HP:0006829 name: Severe muscular hypotonia namespace: medical_genetics alt_id: HP:0002347 def: "A severe degree of muscular hypotonia characterized by markedly reduced muscle tone." [HPO:curators] synonym: "Hypotonia, severe" EXACT [] is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0006830 name: Severe neonatal hypotonia in males namespace: medical_genetics is_a: HP:0001319 ! Neonatal hypotonia [Term] id: HP:0006831 name: Photosensitivity in one-third of patients namespace: medical_genetics is_a: HP:0000992 ! Photosensitivity [Term] id: HP:0006832 name: Type I hereditary motor and sensory neuropathy namespace: medical_genetics is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0006833 name: Mental retardation by age 30 years namespace: medical_genetics is_a: HP:0001249 ! Mental retardation [Term] id: HP:0006834 name: Developmental stagnation at onset of seizures namespace: medical_genetics is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0006835 name: Cerebral cortical atrophy, especially frontal lobes namespace: medical_genetics is_a: HP:0002120 ! Cerebral cortical atrophy [Term] id: HP:0006836 name: Decreased vibration sense, suggesting posterior column involvement namespace: medical_genetics is_a: HP:0002495 ! Impaired vibratory sense [Term] id: HP:0006837 name: Congenital horner syndrome namespace: medical_genetics is_a: HP:0002277 ! Horner syndrome [Term] id: HP:0006838 name: Leukoencephalopathy on CT and MRI namespace: medical_genetics is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006839 name: Cerebellar atrophy in older patients namespace: medical_genetics is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0006840 name: Markedly decreased fetal movement namespace: medical_genetics is_a: HP:0001558 ! Decreased fetal movement [Term] id: HP:0006842 name: Nerve biopsy shows axonal neuropathy namespace: medical_genetics is_a: HP:0003477 ! Axonal neuropathy [Term] id: HP:0006843 name: Distal sensation loss namespace: medical_genetics is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006844 name: Absent patellar reflexes namespace: medical_genetics is_a: HP:0001314 ! Absent deep tendon reflexes [Term] id: HP:0006845 name: Marked distal sensory impairment namespace: medical_genetics is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006846 name: Acute encephalopathy namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006847 name: Breathing difficulty due to vocal cord paralysis namespace: medical_genetics is_a: HP:0001605 ! Vocal cord paralysis [Term] id: HP:0006848 name: Intracranial calcification by X-ray or CT namespace: medical_genetics is_a: HP:0002514 ! Cerebral calcifications [Term] id: HP:0006849 name: Hypodysplasia of the corpus callosum namespace: medical_genetics is_a: HP:0002079 ! Hypoplasia of the corpus callosum [Term] id: HP:0006850 name: Hypoplasia of the ventral pons namespace: medical_genetics is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system is_a: HP:0007361 ! Abnormality of the pons is_a: HP:0007362 ! Aplasia/Hypoplasia of the brainstem [Term] id: HP:0006851 name: Spinal nerve root neurofibromas, symmetric, multiple namespace: medical_genetics is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0006852 name: Episodic generalized hypotonia namespace: medical_genetics is_a: HP:0001290 ! Generalized hypotonia [Term] id: HP:0006854 name: Mental deterioration in childhood namespace: medical_genetics is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0006855 name: Cerebellar vermis atrophy namespace: medical_genetics is_a: HP:0002951 ! Partial or complete absence of cerebellar vermis [Term] id: HP:0006856 name: Progressive mental and motor deterioration namespace: medical_genetics is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0006857 name: Cerebellar hypoplasia/atrophy namespace: medical_genetics is_a: HP:0001321 ! Cerebellar hypoplasia [Term] id: HP:0006858 name: Distal sensory loss of proprioception and vibration sense namespace: medical_genetics is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006859 name: Posterior leukoencephalopathy namespace: medical_genetics is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006860 name: Oculomotor abnormalities namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0006861 name: Hyporeflexia/areflexia in lower limbs namespace: medical_genetics is_a: HP:0002600 ! Hyporeflexia of lower limbs [Term] id: HP:0006862 name: Intermittent cerebellar ataxia namespace: medical_genetics is_a: HP:0001253 ! Cerebellar ataxia [Term] id: HP:0006863 name: Severe expressive language delay namespace: medical_genetics is_a: HP:0002474 ! Expressive language delay [Term] id: HP:0006864 name: Distal muscle atrophy due to peripheral neuropathy namespace: medical_genetics is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006865 name: Sensorimotor polyneuropathy affecting arms more than legs namespace: medical_genetics is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006866 name: Midline central nervous system lipomas namespace: medical_genetics is_a: HP:0004375 ! Tumors of the nervous system [Term] id: HP:0006867 name: Delayed cognitive development namespace: medical_genetics is_a: HP:0001270 ! Motor retardation [Term] id: HP:0006868 name: Sural nerve biopsy shows loss of large myelinated fibers namespace: medical_genetics is_a: HP:0003387 ! Loss of large myelinated fibers [Term] id: HP:0006869 name: Myoclonic epilepsy, progressive namespace: medical_genetics alt_id: HP:0007075 def: "Progressively worsening myoclonic epilepsy." [HPO:curators] synonym: "Progressive myoclonus seizures" EXACT [] is_a: HP:0002123 ! Myoclonic seizures [Term] id: HP:0006870 name: Lobar holoprosencephaly namespace: medical_genetics is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0006871 name: Reading disability namespace: medical_genetics is_a: HP:0001328 ! Learning disability [Term] id: HP:0006872 name: Cerebral hypoplasia namespace: medical_genetics def: "Underdevelopment of the cerebrum." [HPO:curators] is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0006873 name: Symmetrical progressive demyelination namespace: medical_genetics is_a: HP:0003381 ! Demyelination [Term] id: HP:0006874 name: Neuroaxonal degeneration in the brain namespace: medical_genetics is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0006875 name: Slowly progressive spastic paraplegia namespace: medical_genetics is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0006876 name: Nerve biopsy of affected region may show axonal degeneration namespace: medical_genetics is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0006877 name: Mental retardation, in some namespace: medical_genetics is_a: HP:0001249 ! Mental retardation [Term] id: HP:0006878 name: Alzheimer disease, early-onset namespace: medical_genetics is_a: HP:0002511 ! Alzheimer disease [Term] id: HP:0006879 name: Pontocerebellar atrophy namespace: medical_genetics is_a: HP:0002364 ! Cerebellar atrophy, progressive [Term] id: HP:0006880 name: Cerebellar hemangioblastoma namespace: medical_genetics is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0006881 name: Diffuse demyelination namespace: medical_genetics is_a: HP:0003381 ! Demyelination [Term] id: HP:0006882 name: Severe prenatal onset hydrocephalus namespace: medical_genetics is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0006883 name: Sensory axonal neuropathy, mild namespace: medical_genetics is_a: HP:0003390 ! Sensory axonal neuropathy [Term] id: HP:0006884 name: Persistent cavum septum pellucidum namespace: medical_genetics is_a: HP:0002389 ! Cavum septum pellucidum [Term] id: HP:0006885 name: Major developmental milestones are not attained namespace: medical_genetics is_a: HP:0002473 ! Delayed developmental milestones [Term] id: HP:0006886 name: Decreased distal vibration sense namespace: medical_genetics is_a: HP:0002495 ! Impaired vibratory sense [Term] id: HP:0006887 name: Mental retardation, progressive namespace: medical_genetics is_a: HP:0001249 ! Mental retardation [Term] id: HP:0006888 name: Meningoencephalocele namespace: medical_genetics is_a: HP:0002084 ! Encephalocele [Term] id: HP:0006889 name: Mental retardation, borderline namespace: medical_genetics def: "Borderline intellectual retardation is defined as an intelligence quotient (IQ) in the range of 70-79." [HPO:curators] is_a: HP:0001249 ! Mental retardation [Term] id: HP:0006890 name: MRI may show atrophy of the cerebrum namespace: medical_genetics is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0006891 name: Thick cerebral cortex namespace: medical_genetics is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0006892 name: Cerebral atrophy, frontotemporal, progressive namespace: medical_genetics is_a: HP:0002422 ! Cerebral atrophy, progressive [Term] id: HP:0006893 name: Severely dysplastic cerebellum namespace: medical_genetics is_a: HP:0007033 ! Cerebellar dysplasia [Term] id: HP:0006894 name: Hypoplastic olfactory lobes namespace: medical_genetics is_a: HP:0001341 ! Olfactory lobe agenesis [Term] id: HP:0006895 name: Lower limb hypertonia namespace: medical_genetics is_a: HP:0002509 ! Limb hypertonia [Term] id: HP:0006896 name: Hypnopompic hallucinations namespace: medical_genetics is_a: HP:0000738 ! Hallucinations [Term] id: HP:0006897 name: Cranial nerve VI palsy namespace: medical_genetics is_a: HP:0001353 ! Cranial nerve palsies [Term] id: HP:0006898 name: Irregular myelin foldings namespace: medical_genetics is_a: HP:0004336 ! Myelin outfoldings [Term] id: HP:0006899 name: Fusion of the cerebellar hemispheres namespace: medical_genetics is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0006901 name: Impaired thermal sensitivity namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0006902 name: Early-onset myoclonic seizures namespace: medical_genetics def: "Myoclonic seizures with onset early in life." [HPO:curators] is_a: HP:0002123 ! Myoclonic seizures [Term] id: HP:0006903 name: Congenital peripheral neuropathy namespace: medical_genetics is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006904 name: Late-onset spinocerebellar degeneration namespace: medical_genetics is_a: HP:0002503 ! Spinocerebellar tract degeneration [Term] id: HP:0006905 name: Gross motor delay, mild namespace: medical_genetics is_a: HP:0002194 ! Delayed gross motor development [Term] id: HP:0006906 name: Congenital intracerebral calcification namespace: medical_genetics is_a: HP:0002514 ! Cerebral calcifications [Term] id: HP:0006907 name: Severely decreased motor nerve conduction velocity namespace: medical_genetics is_a: HP:0003431 ! Decreased motor nerve conduction velocity (NCV) [Term] id: HP:0006908 name: Mild and nonprogressive mental retardation namespace: medical_genetics is_a: HP:0001256 ! Mental retardation, mild [Term] id: HP:0006909 name: Mild motor development delay namespace: medical_genetics is_a: HP:0001270 ! Motor retardation [Term] id: HP:0006911 name: Frontal release reflexes namespace: medical_genetics is_a: HP:0000743 ! Frontal release signs [Term] id: HP:0006912 name: Early involvement of the corticospinal pathways namespace: medical_genetics is_a: HP:0002492 ! Abnormality of the corticospinal tracts [Term] id: HP:0006913 name: Frontal cortical atophy namespace: medical_genetics is_a: HP:0002120 ! Cerebral cortical atrophy [Term] id: HP:0006914 name: Absence of sensory nerve conduction velocities namespace: medical_genetics is_a: HP:0003448 ! Decreased sensory nerve conduction velocities (NCV) [Term] id: HP:0006915 name: Inability to walk by childhood/adolescence namespace: medical_genetics is_a: HP:0002505 ! Progressive inability to walk [Term] id: HP:0006916 name: Intraaxonal accumulation of curvilinear profiles namespace: medical_genetics is_a: HP:0003205 ! 'Curvilinear' profiles ultrastructurally [Term] id: HP:0006917 name: Interictal vestibular dysfunction namespace: medical_genetics is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0006918 name: Cerebral sclerosis, diffuse namespace: medical_genetics is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0006919 name: Abnormal aggressive, impulsive or violent behavior namespace: medical_genetics is_a: HP:0000718 ! Aggressiveness [Term] id: HP:0006920 name: Neurogenic scapuloperoneal amyotrophy namespace: medical_genetics is_a: HP:0003697 ! Scapuloperoneal atrophy [Term] id: HP:0006921 name: Axial muscle stiffness, symmetric namespace: medical_genetics is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0006922 name: Severe distal sensory impairment namespace: medical_genetics is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006923 name: Abnormal brainstem auditory evoked potentials, suggesting demyelination namespace: medical_genetics is_a: HP:0003151 ! Disturbed visual and brainstem auditory evoked responses indicative of CNS demyelination [Term] id: HP:0006924 name: Progressive mental retardation namespace: medical_genetics is_a: HP:0001249 ! Mental retardation [Term] id: HP:0006925 name: Postural tremor, slow, irregular namespace: medical_genetics is_a: HP:0002174 ! Postural tremor [Term] id: HP:0006926 name: Metachromatic leukodystrophy variant namespace: medical_genetics is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0006927 name: Unilateral polymicrogyria, most often right-sided namespace: medical_genetics is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0006928 name: Diffuse cerebellar atrophy namespace: medical_genetics is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0006929 name: Encephalopathy, hypoglycemic namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006930 name: Frontoparietal cortical dysplasia namespace: medical_genetics is_a: HP:0002539 ! Cortical dysplasia [Term] id: HP:0006931 name: Lipoma of corpus callosum namespace: medical_genetics is_a: HP:0001273 ! Abnormality of the corpus callosum [Term] id: HP:0006932 name: Transient psychotic episodes namespace: medical_genetics is_a: HP:0000725 ! Psychotic episodes [Term] id: HP:0006933 name: Associated syringomyelia namespace: medical_genetics is_a: HP:0003396 ! Syringomyelia [Term] id: HP:0006934 name: Congenital nystagmus namespace: medical_genetics is_a: HP:0000639 ! Nystagmus [Term] id: HP:0006935 name: Psychomotor retardation, variable namespace: medical_genetics is_a: HP:0001255 ! Psychomotor retardation [Term] id: HP:0006936 name: Speech difficulties namespace: medical_genetics is_a: HP:0002399 ! Speech and language difficulties [Term] id: HP:0006937 name: Distal sensory loss of tactile and vibratory senses namespace: medical_genetics is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006938 name: Decreased vibration sense at ankles namespace: medical_genetics is_a: HP:0002166 ! Decreased vibratory sense in the lower limbs [Term] id: HP:0006939 name: Neuropathologic examination shows severe demyelination namespace: medical_genetics is_a: HP:0003381 ! Demyelination [Term] id: HP:0006940 name: Distal muscle weakness and atrophy namespace: medical_genetics is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0006941 name: Polyneuropathy, all limbs namespace: medical_genetics is_a: HP:0001271 ! Polyneuropathy [Term] id: HP:0006942 name: Bladder and bowel incontinence namespace: medical_genetics is_a: HP:0002607 ! Bowel incontinence [Term] id: HP:0006943 name: Diffuse spongiform leukoencephalopathy namespace: medical_genetics is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006944 name: Vibration sense abolished namespace: medical_genetics is_a: HP:0002495 ! Impaired vibratory sense [Term] id: HP:0006945 name: Lateral ventricle dilatation namespace: medical_genetics is_a: HP:0002447 ! Enlarged ventricles [Term] id: HP:0006946 name: Recurrent meningitis namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0006947 name: Recurrent cerebellar and extrapyramidal encephalopathy namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006948 name: Infantile encephalopathy, progressive namespace: medical_genetics is_a: HP:0002448 ! Encephalopathy, progressive [Term] id: HP:0006949 name: Episodic peripheral neuropathy namespace: medical_genetics is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0006950 name: Motor developmental milestones not achieved namespace: medical_genetics is_a: HP:0002473 ! Delayed developmental milestones [Term] id: HP:0006951 name: Retrocerebellar cyst namespace: medical_genetics is_a: HP:0002350 ! Cerebellar cysts [Term] id: HP:0006952 name: Structural abnormalities in the basal ganglia namespace: medical_genetics is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0006953 name: Gait abnormalities may occur namespace: medical_genetics is_a: HP:0001288 ! Gait disturbance [Term] id: HP:0006954 name: Cerebral atrophy, mild, diffuse namespace: medical_genetics is_a: HP:0002059 ! Cerebral atrophy [Term] id: HP:0006955 name: Olivopontocerebellar hypoplasia namespace: medical_genetics is_a: HP:0002542 ! Olivopontocerebellar atrophy [Term] id: HP:0006956 name: Dilation of lateral ventricles namespace: medical_genetics is_a: HP:0002118 ! Abnormality of the cerebral ventricles [Term] id: HP:0006957 name: Loss of ability to walk namespace: medical_genetics is_a: HP:0002505 ! Progressive inability to walk [Term] id: HP:0006958 name: Abnormal auditory evoked potentials namespace: medical_genetics def: "An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex." [HPO:curators] synonym: "Abnormal brainstem auditory-evoked potentials" EXACT [] is_a: HP:0003129 ! Abnormal neurological laboratory findings [Term] id: HP:0006959 name: Proximal spinal muscular atrophy namespace: medical_genetics def: "Proximal spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0006960 name: Calcified choroid plexus namespace: medical_genetics is_a: HP:0007376 ! Abnormality of the choroid plexus [Term] id: HP:0006961 name: Jerky head movements namespace: medical_genetics synonym: "Jerking head movements" EXACT [] is_a: HP:0002457 ! Abnormal head movements [Term] id: HP:0006962 name: Gait instability, worse in the dark namespace: medical_genetics is_a: HP:0002317 ! Unsteady gait [Term] id: HP:0006963 name: Superimposed episodic, painful, severe myoclonic spasms namespace: medical_genetics is_a: HP:0003739 ! Myoclonic spasms [Term] id: HP:0006964 name: Cerebral cortical neurodegeneration namespace: medical_genetics is_a: HP:0002180 ! Neurodegeneration [Term] id: HP:0006965 name: Acute necrotizing encephalopathy namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006966 name: Proximal muscle wasting namespace: medical_genetics def: "Amyotrophy (muscular atrophy) affecting the proximal musculature." [HPO:curators] is_a: HP:0003701 ! Muscle weakness, proximal [Term] id: HP:0006968 name: No development of motor milestones namespace: medical_genetics is_a: HP:0002130 ! Delayed motor milestones [Term] id: HP:0006969 name: Absence of the septum pellucidum with fusion of thalami namespace: medical_genetics is_a: HP:0001331 ! Absent septum pellucidum [Term] id: HP:0006970 name: Periventricular leukomalacia namespace: medical_genetics is_a: HP:0002518 ! Periventricular white matter changes [Term] id: HP:0006971 name: Mild distal sensory deficits namespace: medical_genetics is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006972 name: Neuropsychologic cognitive abnormalities namespace: medical_genetics is_a: HP:0002302 ! Cognitive abnormality [Term] id: HP:0006974 name: Mri shows delayed myelination namespace: medical_genetics is_a: HP:0002188 ! Delayed myelination [Term] id: HP:0006975 name: Lower limb atrophy namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0006976 name: Focal necrotizing encephalopathy namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0006977 name: Grammar-specific speech disorder namespace: medical_genetics is_a: HP:0002167 ! Neurological speech impairment [Term] id: HP:0006978 name: Dysmyelinating leukodystrophy namespace: medical_genetics is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0006979 name: Sleep-wake cycle disturbance namespace: medical_genetics is_a: HP:0002360 ! Sleep disturbances [Term] id: HP:0006980 name: Leukoencephalopathy, progressive namespace: medical_genetics is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006981 name: Decreased distal touch sense namespace: medical_genetics is_a: HP:0002495 ! Impaired vibratory sense [Term] id: HP:0006982 name: Partial-total agenesis of corpus callosum namespace: medical_genetics is_a: HP:0001274 ! Agenesis of corpus callosum [Term] id: HP:0006983 name: Slowly progressive spastic quadriparesis namespace: medical_genetics is_a: HP:0002478 ! Progressive spastic quadriplegia [Term] id: HP:0006984 name: Distal sensory loss of all modalities namespace: medical_genetics is_a: HP:0003409 ! Distal sensory impairment of all modalities [Term] id: HP:0006986 name: Upper limb spasticity namespace: medical_genetics is_a: HP:0001257 ! Spasticity [Term] id: HP:0006987 name: Sensory type hand incoordination namespace: medical_genetics is_a: HP:0002311 ! Incoordination [Term] id: HP:0006988 name: Alobar holoprosencephaly namespace: medical_genetics is_a: HP:0001360 ! Holoprosencephaly [Term] id: HP:0006989 name: Dysplastic corpus callosum namespace: medical_genetics is_a: HP:0001273 ! Abnormality of the corpus callosum [Term] id: HP:0006990 name: Dysmyelination with excess myelin-dependent gliosis namespace: medical_genetics is_a: HP:0003469 ! Dysmyelination [Term] id: HP:0006991 name: Brainstem hypoplasia/dysplasia namespace: medical_genetics is_a: HP:0002365 ! Hypoplasia of the brainstem [Term] id: HP:0006992 name: Anterior basal encephalocele namespace: medical_genetics is_a: HP:0002084 ! Encephalocele [Term] id: HP:0006993 name: Distal sensory impairment of the lower extremities namespace: medical_genetics alt_id: HP:0007296 def: "Impairment of sensation affecting primarily the distal regions of the legs." [HPO:curators] synonym: "Distal sensory impairment in lower limbs" EXACT [] is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0006994 name: Leukoencephalopathy, diffuse namespace: medical_genetics is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0006996 name: Dysgenesis of corpus callosum namespace: medical_genetics is_a: HP:0001273 ! Abnormality of the corpus callosum [Term] id: HP:0006997 name: Seizures usually last 1 to 5 minutes namespace: medical_genetics is_a: HP:0002125 ! Seizures usually last less than 15 minutes [Term] id: HP:0006998 name: Cognitive deficits may occur namespace: medical_genetics is_a: HP:0002337 ! Cognitive deficits [Term] id: HP:0006999 name: Cell loss and gliosis in the basal ganglia namespace: medical_genetics is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007000 name: Morning myoclonic jerks namespace: medical_genetics is_a: HP:0001336 ! Myoclonus [Term] id: HP:0007001 name: Loss of purkinje cells in the cerebellar vermis namespace: medical_genetics is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007002 name: Sensory and motor axonal neuropathy namespace: medical_genetics is_a: HP:0003477 ! Axonal neuropathy [Term] id: HP:0007004 name: Late-onset speech development namespace: medical_genetics is_a: HP:0002117 ! Speech delay [Term] id: HP:0007005 name: Developmental delay in early childhood namespace: medical_genetics is_a: HP:0000754 ! Developmental delay [Term] id: HP:0007006 name: Dorsal column and spinocerebellar tract degeneration namespace: medical_genetics is_a: HP:0002503 ! Spinocerebellar tract degeneration [Term] id: HP:0007007 name: Brain tissue shows cavitation of the basal ganglia namespace: medical_genetics is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007008 name: Morning generalized tonic-clonic seizures namespace: medical_genetics is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0007009 name: Central nervous system degeneration namespace: medical_genetics is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0007010 name: Poor fine motor coordination namespace: medical_genetics is_a: HP:0002275 ! Poor motor coordination [Term] id: HP:0007011 name: Fourth cranial nerve palsy namespace: medical_genetics is_a: HP:0001353 ! Cranial nerve palsies [Term] id: HP:0007012 name: Severe hypomyelination on nerve biopsy namespace: medical_genetics is_a: HP:0007182 ! Hypomyelination on nerve biopsy [Term] id: HP:0007013 name: Occasional onion bulb formations namespace: medical_genetics is_a: HP:0003383 ! 'Onion bulb' formations on nerve biopsy [Term] id: HP:0007014 name: Limb and truncal ataxia namespace: medical_genetics is_a: HP:0002078 ! Truncal ataxia [Term] id: HP:0007015 name: Poor fine and gross motor coordination namespace: medical_genetics is_a: HP:0002275 ! Poor motor coordination [Term] id: HP:0007016 name: Corticospinal tract hypoplasia namespace: medical_genetics is_a: HP:0007365 ! Aplasia/Hypoplasia involving the corticospinal tracts [Term] id: HP:0007017 name: Progressive forgetfulness namespace: medical_genetics is_a: HP:0000747 ! Forgetfulness [Term] id: HP:0007018 name: Attention deficit hyperactivity disorder namespace: medical_genetics alt_id: HP:0001576 alt_id: HP:0001577 alt_id: HP:0006973 def: "Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient." [HPO:curators] synonym: "Attention deficit" EXACT [] synonym: "Attention deficit disorder" EXACT [] synonym: "Attention deficit-hyperactivity disorder" EXACT [] synonym: "Attention deficits" EXACT [] synonym: "Childhood attention deficit/hyperactivity disorder" EXACT [] is_a: HP:0000736 ! Short attention span [Term] id: HP:0007019 name: Difficulty walking and climbing stairs namespace: medical_genetics is_a: HP:0002355 ! Difficulty walking is_a: HP:0003551 ! Difficulty climbing stairs [Term] id: HP:0007020 name: Progressive spastic paraplegia namespace: medical_genetics is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0007021 name: Pain insensitivity, diffuse namespace: medical_genetics is_a: HP:0007328 ! Decreased pain sensation [Term] id: HP:0007022 name: Sural nerve biopsy shows occasional onion bulb formations namespace: medical_genetics is_a: HP:0003383 ! 'Onion bulb' formations on nerve biopsy [Term] id: HP:0007023 name: Antenatal intracerebral hemorrhage namespace: medical_genetics is_a: HP:0001342 ! Cerebral hemorrhage [Term] id: HP:0007024 name: Pseudobulbar paralysis namespace: medical_genetics is_a: HP:0002201 ! Pseudobulbar palsy [Term] id: HP:0007025 name: Slight mental retardation namespace: medical_genetics is_a: HP:0001256 ! Mental retardation, mild [Term] id: HP:0007026 name: Hypoplastic/atrophic corpus callosum namespace: medical_genetics is_a: HP:0002079 ! Hypoplasia of the corpus callosum [Term] id: HP:0007027 name: Poorly formed metencephalon namespace: medical_genetics is_a: HP:0002418 ! Abnormality of the midbrain [Term] id: HP:0007028 name: Choreoathetosis , more frequent at disease onset namespace: medical_genetics is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0007029 name: Cerebral berry aneurysms namespace: medical_genetics is_a: HP:0004944 ! Cerebral artery aneurysm [Term] id: HP:0007030 name: Nonprogressive encephalopathy namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007031 name: Nerve biopsy shows loss of large myelinated fibers namespace: medical_genetics is_a: HP:0003386 ! Loss of myelinated fibers on nerve biopsy [Term] id: HP:0007032 name: Decreased or absent ankle reflexes namespace: medical_genetics is_a: HP:0003438 ! Absent ankle reflexes [Term] id: HP:0007033 name: Cerebellar dysplasia namespace: medical_genetics is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0007034 name: Generalized hyperreflexia namespace: medical_genetics is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007035 name: Anterior encephalocele namespace: medical_genetics is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007036 name: Hypoplasia of olfactory tract namespace: medical_genetics is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system [Term] id: HP:0007037 name: Psychomotor regression beginning in infancy namespace: medical_genetics is_a: HP:0002489 ! Psychomotor regression [Term] id: HP:0007038 name: Congenital cerebellar hypoplasia namespace: medical_genetics is_a: HP:0001321 ! Cerebellar hypoplasia [Term] id: HP:0007039 name: MRI shows symmetric lesions of the basal ganglia namespace: medical_genetics is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007040 name: Severe involvement of globus pallidus namespace: medical_genetics is_a: HP:0002453 ! Abnormality of the globus pallidus [Term] id: HP:0007041 name: Chronic lymphocytic meningitis namespace: medical_genetics is_a: HP:0001287 ! Meningitis [Term] id: HP:0007042 name: Focal white matter lesions namespace: medical_genetics is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007043 name: Peripheral sensory and motor neuropathy namespace: medical_genetics is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0007044 name: Mental retardation, severe in some patients namespace: medical_genetics is_a: HP:0001261 ! Mental retardation, severe [Term] id: HP:0007045 name: Midline brain calcifications namespace: medical_genetics is_a: HP:0002514 ! Cerebral calcifications [Term] id: HP:0007046 name: Limited gross motor development namespace: medical_genetics is_a: HP:0002194 ! Delayed gross motor development [Term] id: HP:0007047 name: Atrophy of the dentate nucleus namespace: medical_genetics is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0007048 name: Large basal ganglia namespace: medical_genetics is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007050 name: Cerebellar ataxia, severe namespace: medical_genetics def: "A severe degree of cerebellar ataxia (that is, ataxia due to dysfunction of the cerebellum)." [HPO:curators] is_a: HP:0001253 ! Cerebellar ataxia [Term] id: HP:0007051 name: Posterior encephalocele namespace: medical_genetics is_a: HP:0002085 ! Occipital encephalocele [Term] id: HP:0007052 name: Multifocal cerebral white matter abnormalities namespace: medical_genetics is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007053 name: Pontocerebellar hypoplasia namespace: medical_genetics is_a: HP:0001321 ! Cerebellar hypoplasia [Term] id: HP:0007054 name: Hyperreflexia proximally namespace: medical_genetics is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007056 name: Distal sensory impairment to vibration and proprioception namespace: medical_genetics is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0007057 name: Poor hand-eye coordination namespace: medical_genetics is_a: HP:0002370 ! Poor coordination [Term] id: HP:0007058 name: Generalized cerebral hypoplasia/atrophy namespace: medical_genetics is_a: HP:0002283 ! Diffuse brain atrophy [Term] id: HP:0007059 name: Emg shows evidence of denervation namespace: medical_genetics synonym: "Emg shows denervation" EXACT [] is_a: HP:0003444 ! EMG shows chronic denervation [Term] id: HP:0007062 name: Spastic paraplegia, lower limb namespace: medical_genetics is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0007063 name: Aplasia of the inferior half of the cerebellar vermis namespace: medical_genetics is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007064 name: Progressive language deterioration namespace: medical_genetics is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007065 name: Disorganization of the anterior cerebellar vermis namespace: medical_genetics is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007066 name: Proximal limb muscle stiffness namespace: medical_genetics is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0007067 name: Peripheral sensory neuropathy, distal namespace: medical_genetics is_a: HP:0000763 ! Sensory neuropathy [Term] id: HP:0007068 name: Inferior vermis hypoplasia namespace: medical_genetics is_a: HP:0001320 ! Cerebellar vermis hypoplasia [Term] id: HP:0007069 name: Profound static encephalopathy namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007070 name: Neurofibrillary tangles may be present namespace: medical_genetics is_a: HP:0002185 ! Neurofibrillary tangles [Term] id: HP:0007071 name: Mild-moderate ventricular dilatation namespace: medical_genetics is_a: HP:0002447 ! Enlarged ventricles [Term] id: HP:0007072 name: Cerebellar atrophy in most cases namespace: medical_genetics is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0007073 name: Leukoencephalopathy, severe namespace: medical_genetics is_a: HP:0002352 ! Leukoencephalopathy [Term] id: HP:0007074 name: Thick corpus callosum namespace: medical_genetics is_a: HP:0001273 ! Abnormality of the corpus callosum [Term] id: HP:0007076 name: Extrapyramidal muscular rigidity namespace: medical_genetics is_a: HP:0002071 ! Extrapyramidal signs [Term] id: HP:0007077 name: Neurofibromas can occur at cervical, thoracic, lumbar, and sacral levels namespace: medical_genetics is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0007078 name: Decreased or absent sensory nerve action potentials namespace: medical_genetics is_a: HP:0003134 ! Abnormal motor and sensory nerve conduction [Term] id: HP:0007079 name: Adult-onset metachromatic leukodystrophy variant namespace: medical_genetics is_a: HP:0002415 ! Leukodystrophy [Term] id: HP:0007081 name: Late-onset muscular dystrophy namespace: medical_genetics is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0007082 name: Enlarged lateral and third ventricles namespace: medical_genetics is_a: HP:0002447 ! Enlarged ventricles [Term] id: HP:0007083 name: Hyperreflexia in knees namespace: medical_genetics is_a: HP:0002395 ! Lower limb hyperreflexia [Term] id: HP:0007084 name: Occasional early 'onion' bulb formations namespace: medical_genetics is_a: HP:0003383 ! 'Onion bulb' formations on nerve biopsy [Term] id: HP:0007086 name: Social and occupational deterioration namespace: medical_genetics is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0007087 name: Involuntary jerking movements namespace: medical_genetics is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0007088 name: Mild peripheral neuropathy may occur namespace: medical_genetics is_a: HP:0007235 ! Peripheral neuropathy, mild [Term] id: HP:0007089 name: Facial-lingual fasciculations namespace: medical_genetics is_a: HP:0002380 ! Fasciculations [Term] id: HP:0007090 name: Partial or complete agenesis of corpus callosum namespace: medical_genetics is_a: HP:0001274 ! Agenesis of corpus callosum [Term] id: HP:0007091 name: Large cavum septi pellucidi namespace: medical_genetics is_a: HP:0002389 ! Cavum septum pellucidum [Term] id: HP:0007093 name: Sural nerve biopsy shows severe loss of myelinated fibers namespace: medical_genetics is_a: HP:0003386 ! Loss of myelinated fibers on nerve biopsy [Term] id: HP:0007094 name: Delayed development may occur namespace: medical_genetics is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0007095 name: Polymicrogyria, most severe in the frontoparietal regions namespace: medical_genetics is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0007096 name: Hypoplasia of the optic tract namespace: medical_genetics is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system [Term] id: HP:0007097 name: Cranial nerve motor loss namespace: medical_genetics is_a: HP:0001291 ! Abnormality of the cranial nerves [Term] id: HP:0007098 name: Choreoathetosis, paroxysmal namespace: medical_genetics is_a: HP:0002351 ! Choreoathetosis, episodic [Term] id: HP:0007099 name: Arnold-Chiari type I malformation namespace: medical_genetics alt_id: HP:0002440 def: "Arnold-Chiari type I malformation refers to a relatively mild degree of herniation of the posteroinferior region of the cerebellum (the cerebellar tonsils) into the cervical canal with little or no displacement of the fourth ventricle." [HPO:curators] synonym: "Arnold Chiari type I malformation" EXACT [] synonym: "Chiari I malformation" EXACT [] is_a: HP:0002308 ! Arnold-Chiari malformation [Term] id: HP:0007100 name: Progressive ventriculomegaly namespace: medical_genetics is_a: HP:0002119 ! Ventriculomegaly [Term] id: HP:0007101 name: Difficulty walking in childhood namespace: medical_genetics is_a: HP:0002355 ! Difficulty walking [Term] id: HP:0007102 name: Seizures, febrile, in early childhood namespace: medical_genetics is_a: HP:0002373 ! Febrile seizures [Term] id: HP:0007103 name: Hypodensity of cerebral white matter on MRI namespace: medical_genetics alt_id: HP:0006804 synonym: "White matter hypodensities on MRI" EXACT [] is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007104 name: Prolonged somatosensory evoked potentials namespace: medical_genetics is_a: HP:0007377 ! Abnormality of somatosensory evoked potentials [Term] id: HP:0007105 name: Infantile encephalopathy namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007106 name: Severe delay in developmental milestones namespace: medical_genetics is_a: HP:0002473 ! Delayed developmental milestones [Term] id: HP:0007107 name: Segmental demyelination namespace: medical_genetics is_a: HP:0003381 ! Demyelination [Term] id: HP:0007108 name: Demyelinating peripheral neuropathy namespace: medical_genetics is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007109 name: Periventricular cysts namespace: medical_genetics is_a: HP:0002518 ! Periventricular white matter changes [Term] id: HP:0007110 name: Central hypoventilation namespace: medical_genetics is_a: HP:0002791 ! Hypoventilation [Term] id: HP:0007111 name: Chronic hepatic encephalopathy namespace: medical_genetics is_a: HP:0002480 ! Hepatic encephalopathy [Term] id: HP:0007112 name: Mri shows frontal and temporal cortical atrophy namespace: medical_genetics is_a: HP:0002120 ! Cerebral cortical atrophy [Term] id: HP:0007113 name: Extrapyramidal signs may develop namespace: medical_genetics is_a: HP:0002071 ! Extrapyramidal signs [Term] id: HP:0007114 name: Infrequent generalized seizures namespace: medical_genetics is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0007115 name: Orbital encephalocele namespace: medical_genetics is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007116 name: Impaired vibratory and position senses namespace: medical_genetics is_a: HP:0002495 ! Impaired vibratory sense [Term] id: HP:0007117 name: Corticospinal tract atrophy namespace: medical_genetics is_a: HP:0007372 ! Atrophy/Degeneration involving the corticospinal tracts [Term] id: HP:0007118 name: Decreased motor and sensory nerve conduction velocities namespace: medical_genetics is_a: HP:0003134 ! Abnormal motor and sensory nerve conduction [Term] id: HP:0007119 name: Mental retardation, borderline-mild namespace: medical_genetics is_a: HP:0001256 ! Mental retardation, mild [Term] id: HP:0007120 name: Involuntary movements of extremities, neck, trunk, and/or face namespace: medical_genetics is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0007121 name: Atrophy of the cerebellar vermis on mri namespace: medical_genetics is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007122 name: Dementia, rapidly progressive namespace: medical_genetics is_a: HP:0002274 ! Dementia, progressive [Term] id: HP:0007123 name: Subcortical dementia, progressive namespace: medical_genetics is_a: HP:0002274 ! Dementia, progressive [Term] id: HP:0007124 name: Spastic paraplegia, severe namespace: medical_genetics is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0007125 name: Agenesis or hypogenesis of the cerebellar vermis namespace: medical_genetics is_a: HP:0002335 ! Agenesis of cerebellar vermis [Term] id: HP:0007126 name: Proximal amyotrophy namespace: medical_genetics alt_id: HP:0006792 alt_id: HP:0009041 def: "Muscular atrophy affecting proximally located muscles." [HPO:curators] synonym: "Muscle atrophy, proximal" EXACT [] synonym: "Proximal muscle atrophy" EXACT [] is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0007127 name: Absent or delayed speech namespace: medical_genetics is_a: HP:0002117 ! Speech delay [Term] id: HP:0007128 name: Partial to complete agenesis of corpus callosum namespace: medical_genetics is_a: HP:0001338 ! Partial agenesis of the corpus callosum [Term] id: HP:0007129 name: Cerebellar medulloblastoma namespace: medical_genetics is_a: HP:0002885 ! Medulloblastoma [Term] id: HP:0007130 name: Lack of developmental development namespace: medical_genetics is_a: HP:0002433 ! Global developmental delay [Term] id: HP:0007131 name: Acute demyelinating polyneuropathy namespace: medical_genetics is_a: HP:0007108 ! Demyelinating peripheral neuropathy [Term] id: HP:0007132 name: Pallidal degeneration namespace: medical_genetics is_a: HP:0007366 ! Atrophy/Degeneration affecting the brainstem [Term] id: HP:0007133 name: Progressive peripheral neuropathy namespace: medical_genetics alt_id: HP:0007329 synonym: "Progressive polyneuropathy" EXACT [] is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007134 name: White matter dysmyelination/demyelination namespace: medical_genetics is_a: HP:0003469 ! Dysmyelination [Term] id: HP:0007135 name: Sural nerve biopsy shows marked loss of myelinated fibers namespace: medical_genetics is_a: HP:0003386 ! Loss of myelinated fibers on nerve biopsy [Term] id: HP:0007136 name: Loss of spinal cord anterior horn cells namespace: medical_genetics synonym: "Anterior horn cell loss" EXACT [] is_a: HP:0002398 ! Degeneration of anterior horn cells [Term] id: HP:0007138 name: Distal sensory loss, upper and lower limbs namespace: medical_genetics is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0007139 name: Neocortical dysplasia namespace: medical_genetics is_a: HP:0002539 ! Cortical dysplasia [Term] id: HP:0007140 name: Isolated focal dystonia may occur namespace: medical_genetics is_a: HP:0004373 ! Focal dystonia [Term] id: HP:0007141 name: Sensorimotor neuropathy namespace: medical_genetics alt_id: HP:0007055 alt_id: HP:0007237 synonym: "Mixed polyneuropathy" EXACT [] synonym: "Sensorimotor peripheral neuropathy" EXACT [] is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007142 name: Motor and sensory neuropathy namespace: medical_genetics is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007143 name: Absence seizures may occur namespace: medical_genetics is_a: HP:0002121 ! Absence seizures [Term] id: HP:0007144 name: Decreased vibration sense in feet namespace: medical_genetics is_a: HP:0002166 ! Decreased vibratory sense in the lower limbs [Term] id: HP:0007145 name: Cervical cord compression myelopathy namespace: medical_genetics is_a: HP:0002341 ! Cervical cord compression [Term] id: HP:0007146 name: Bilateral basal ganglia lesions namespace: medical_genetics is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007147 name: Urinary or fecal incontinence namespace: medical_genetics is_a: HP:0000020 ! Urinary incontinence [Term] id: HP:0007148 name: Distal sensory loss of vibration and proprioception namespace: medical_genetics is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0007149 name: Distal muscle atrophy, more severe in the upper limbs namespace: medical_genetics is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0007150 name: Dementia, presenile, progressive, beginning around age 30 years namespace: medical_genetics is_a: HP:0002274 ! Dementia, progressive [Term] id: HP:0007151 name: Small but structurally normal cerebral cortex namespace: medical_genetics is_a: HP:0002472 ! Small cerebral cortex [Term] id: HP:0007152 name: Relapsing, early onset cerebellar ataxia namespace: medical_genetics is_a: HP:0001253 ! Cerebellar ataxia [Term] id: HP:0007153 name: Progressive extrapyramidal movement disorder namespace: medical_genetics is_a: HP:0002071 ! Extrapyramidal signs [Term] id: HP:0007154 name: Nonprogressive mental retardation namespace: medical_genetics is_a: HP:0001249 ! Mental retardation [Term] id: HP:0007155 name: Cognitive decline, progressive namespace: medical_genetics is_a: HP:0002303 ! Cognitive decline [Term] id: HP:0007156 name: Limb muscle stiffness is often asymmetric namespace: medical_genetics is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0007157 name: Cerebellar ataxia, adult-onset namespace: medical_genetics is_a: HP:0001253 ! Cerebellar ataxia [Term] id: HP:0007158 name: Progressive extrapyramidal rigidity namespace: medical_genetics is_a: HP:0002071 ! Extrapyramidal signs [Term] id: HP:0007159 name: Fluctuations in consciousness namespace: medical_genetics is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0007160 name: Sural nerve biopsy shows hypomyelination/demyelination namespace: medical_genetics is_a: HP:0007182 ! Hypomyelination on nerve biopsy [Term] id: HP:0007161 name: Occasional pyramidal tract signs namespace: medical_genetics is_a: HP:0002062 ! Abnormality of the pyramidal tracts [Term] id: HP:0007162 name: Neuropathology shows diffuse demyelination of the cerebral white matter namespace: medical_genetics is_a: HP:0003381 ! Demyelination [Term] id: HP:0007163 name: Corticospinal tract disease in lower limbs namespace: medical_genetics is_a: HP:0002492 ! Abnormality of the corticospinal tracts [Term] id: HP:0007164 name: Slowed slurred speech namespace: medical_genetics is_a: HP:0001350 ! Slurred speech [Term] id: HP:0007165 name: Periventricular gray matter heterotopias namespace: medical_genetics is_a: HP:0002281 ! Gray matter heterotopias [Term] id: HP:0007166 name: Involuntary dystonic or choreiform movements namespace: medical_genetics is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0007168 name: Olivopontocerebellar hypoplasia, severe namespace: medical_genetics is_a: HP:0001321 ! Cerebellar hypoplasia [Term] id: HP:0007169 name: Axonal peripheral neuropathy namespace: medical_genetics alt_id: HP:0006814 synonym: "Peripheral axonal neuropathy" EXACT [] is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007170 name: Severe speech and language disorder namespace: medical_genetics is_a: HP:0002399 ! Speech and language difficulties [Term] id: HP:0007171 name: Neurogenic muscle atrophy, especially in the lower limbs namespace: medical_genetics is_a: HP:0003702 ! Neurogenic muscle atrophy [Term] id: HP:0007172 name: Speech and language delay, severe namespace: medical_genetics is_a: HP:0002399 ! Speech and language difficulties [Term] id: HP:0007173 name: Enlarged lateral ventricles namespace: medical_genetics is_a: HP:0002447 ! Enlarged ventricles [Term] id: HP:0007174 name: Mildly delayed developmental milestones namespace: medical_genetics is_a: HP:0002473 ! Delayed developmental milestones [Term] id: HP:0007175 name: Simple partial occipital seizures namespace: medical_genetics is_a: HP:0002349 ! Simple partial seizures [Term] id: HP:0007176 name: Mental retardation by the age of 7 years namespace: medical_genetics is_a: HP:0001249 ! Mental retardation [Term] id: HP:0007177 name: Nerve biopsy shows loss of large and small myelinated fibers namespace: medical_genetics is_a: HP:0003386 ! Loss of myelinated fibers on nerve biopsy [Term] id: HP:0007178 name: Motor polyneuropathy namespace: medical_genetics is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007179 name: Poor or absent smooth pursuit namespace: medical_genetics is_a: HP:0001151 ! Impaired horizontal smooth pursuit [Term] id: HP:0007180 name: Low normal intelligence namespace: medical_genetics is_a: HP:0001286 ! Low intelligence [Term] id: HP:0007181 name: Interosseus muscle atrophy namespace: medical_genetics comment: This term needs disambiguation. Palmar, plantar, or dorsal interosseus muscles. synonym: "Interosseous muscular atrophy" EXACT [] is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0007182 name: Hypomyelination on nerve biopsy namespace: medical_genetics alt_id: HP:0007226 synonym: "Nerve biopsy shows hypomyelination" EXACT [] is_a: HP:0003429 ! Hypomyelination [Term] id: HP:0007183 name: Hyperintense lesions in the basal ganglia on mri namespace: medical_genetics is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007184 name: Hyperreflexia may occur namespace: medical_genetics is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007185 name: Loss of consciousness namespace: medical_genetics is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0007186 name: Type ii motor-sensory neuropathy namespace: medical_genetics is_a: HP:0003134 ! Abnormal motor and sensory nerve conduction [Term] id: HP:0007187 name: Focal lissencephaly namespace: medical_genetics is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0007188 name: Congenital facial diplegia namespace: medical_genetics is_a: HP:0001349 ! Facial diplegia [Term] id: HP:0007189 name: True or apparent hydrocephalus namespace: medical_genetics is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0007190 name: Neuronal loss in the cerebral cortex namespace: medical_genetics is_a: HP:0002538 ! Abnormality of the cerebral cortex [Term] id: HP:0007191 name: Tropical spastic paraparesis namespace: medical_genetics is_a: HP:0002313 ! Spastic paraparesis [Term] id: HP:0007192 name: Deficit in expressive language namespace: medical_genetics is_a: HP:0002474 ! Expressive language delay [Term] id: HP:0007193 name: Generalized tonic-clonic seizures on awakening namespace: medical_genetics is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0007194 name: Intermittent migraine headaches namespace: medical_genetics is_a: HP:0002076 ! Migraine [Term] id: HP:0007195 name: Proximal neurogenic muscle weakness namespace: medical_genetics is_a: HP:0003701 ! Muscle weakness, proximal [Term] id: HP:0007196 name: Early and severe mental retardation namespace: medical_genetics is_a: HP:0001261 ! Mental retardation, severe [Term] id: HP:0007197 name: Action and postural tremor namespace: medical_genetics is_a: HP:0002174 ! Postural tremor [Term] id: HP:0007198 name: Developmental arrest, 2nd year of life namespace: medical_genetics is_a: HP:0001263 ! Developmental retardation [Term] id: HP:0007199 name: Progressive spastic paraparesis namespace: medical_genetics is_a: HP:0002313 ! Spastic paraparesis [Term] id: HP:0007200 name: Episodic hypersomnia namespace: medical_genetics is_a: HP:0004372 ! Reduced consciousness/confusion [Term] id: HP:0007201 name: Cerebral artery atherosclerosis namespace: medical_genetics is_a: HP:0002621 ! Atherosclerosis [Term] id: HP:0007202 name: Myoclonic seizures, intractable namespace: medical_genetics def: "Myoclonic seizures that do not respond well to treatment." [HPO:curators] is_a: HP:0002123 ! Myoclonic seizures [Term] id: HP:0007203 name: Cerebellar atrophy, mild namespace: medical_genetics is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0007204 name: Brain imaging shows diffuse white matter abnormalities namespace: medical_genetics is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007205 name: Demyelinating peripheral neuropathy, progressive namespace: medical_genetics is_a: HP:0007108 ! Demyelinating peripheral neuropathy [Term] id: HP:0007206 name: Hemimegalencephaly namespace: medical_genetics is_a: HP:0001355 ! Megalencephaly [Term] id: HP:0007207 name: Seizures, tonic-clonic, photosensitive namespace: medical_genetics is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0007208 name: Irregular loops and focal folding of myelin sheaths namespace: medical_genetics is_a: HP:0004335 ! Abnormal formation of myelin sheaths [Term] id: HP:0007209 name: Facial paralysis due to cranial nerve vii compression namespace: medical_genetics is_a: HP:0002008 ! Facial paralysis [Term] id: HP:0007210 name: Lower limb hypotrophy namespace: medical_genetics is_a: HP:0009816 ! Hypoplasia involving bones of the lower limbs [Term] id: HP:0007211 name: Gradual onset of cognitive impairment namespace: medical_genetics is_a: HP:0002128 ! Cognitive impairment [Term] id: HP:0007212 name: Cranial nerve VII palsy namespace: medical_genetics is_a: HP:0001353 ! Cranial nerve palsies [Term] id: HP:0007213 name: Late-onset form of familial alzheimer disease namespace: medical_genetics is_a: HP:0002511 ! Alzheimer disease [Term] id: HP:0007214 name: Cerebellar ataxia during episodes namespace: medical_genetics is_a: HP:0001253 ! Cerebellar ataxia [Term] id: HP:0007215 name: Secondary hyperkalemic periodic paralysis namespace: medical_genetics is_a: HP:0003768 ! Periodic paralysis [Term] id: HP:0007216 name: Variable spastic paraplegia namespace: medical_genetics is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0007217 name: Areas of dysmyelination on mri namespace: medical_genetics is_a: HP:0003469 ! Dysmyelination [Term] id: HP:0007218 name: Markedly delayed nerve conduction velocities namespace: medical_genetics is_a: HP:0000762 ! Decreased nerve conduction velocities [Term] id: HP:0007219 name: Motor retardation, mild namespace: medical_genetics is_a: HP:0001270 ! Motor retardation [Term] id: HP:0007220 name: Demyelinating motor neuropathy namespace: medical_genetics is_a: HP:0007108 ! Demyelinating peripheral neuropathy is_a: HP:0007178 ! Motor polyneuropathy [Term] id: HP:0007221 name: Truncal ataxia, progressive namespace: medical_genetics is_a: HP:0002078 ! Truncal ataxia [Term] id: HP:0007222 name: Demyelination in central white matter namespace: medical_genetics is_a: HP:0003381 ! Demyelination [Term] id: HP:0007223 name: Enlarged fourth ventricle, mild namespace: medical_genetics is_a: HP:0002198 ! Enlarged fourth ventricle [Term] id: HP:0007224 name: Developmental delay, variable namespace: medical_genetics is_a: HP:0000754 ! Developmental delay [Term] id: HP:0007225 name: Corticospinal signs namespace: medical_genetics is_a: HP:0002492 ! Abnormality of the corticospinal tracts [Term] id: HP:0007227 name: Brain macrogyria and polymicrogyria namespace: medical_genetics is_a: HP:0002126 ! Polymicrogyria [Term] id: HP:0007228 name: Global developmental delay, severe namespace: medical_genetics is_a: HP:0002433 ! Global developmental delay [Term] id: HP:0007229 name: Intracerebral periventricular calcifications namespace: medical_genetics is_a: HP:0002514 ! Cerebral calcifications [Term] id: HP:0007230 name: Decreased or absent distal sensory nerve action potential namespace: medical_genetics is_a: HP:0003134 ! Abnormal motor and sensory nerve conduction [Term] id: HP:0007231 name: Severely reduced nerve conduction velocities namespace: medical_genetics is_a: HP:0000762 ! Decreased nerve conduction velocities [Term] id: HP:0007232 name: Spinocerebellar tract disease in lower limbs namespace: medical_genetics is_a: HP:0002503 ! Spinocerebellar tract degeneration [Term] id: HP:0007233 name: Clusters of axonal regeneration namespace: medical_genetics is_a: HP:0003450 ! Axonal regeneration on nerve biopsy [Term] id: HP:0007234 name: Mild to moderate learning difficulties namespace: medical_genetics is_a: HP:0001328 ! Learning disability [Term] id: HP:0007235 name: Peripheral neuropathy, mild namespace: medical_genetics is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007236 name: Recurrent subcortical infarcts namespace: medical_genetics is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0007238 name: Cerebral calcification, nonarteriosclerotic namespace: medical_genetics is_a: HP:0002514 ! Cerebral calcifications [Term] id: HP:0007239 name: Congenital encephalopathy namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007240 name: Progressive gait ataxia namespace: medical_genetics is_a: HP:0001329 ! Progressive ataxia [Term] id: HP:0007241 name: Absent patellar and achilles reflexes namespace: medical_genetics is_a: HP:0001314 ! Absent deep tendon reflexes [Term] id: HP:0007242 name: Loss of very early milestones namespace: medical_genetics is_a: HP:0002471 ! Loss of developmental milestones [Term] id: HP:0007245 name: Brisk lower extremity reflexes namespace: medical_genetics is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007246 name: MRI imaging shows cavitation of the basal ganglia namespace: medical_genetics is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007247 name: Psychomotor regression in infants namespace: medical_genetics is_a: HP:0002489 ! Psychomotor regression [Term] id: HP:0007249 name: Decreased small myelinated nerve fibers namespace: medical_genetics is_a: HP:0003380 ! Decreased number of myelinated fibers [Term] id: HP:0007250 name: Recurrent external ophthalmoplegia namespace: medical_genetics is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007251 name: Severe motor retardation namespace: medical_genetics is_a: HP:0001270 ! Motor retardation [Term] id: HP:0007252 name: Generalized tonic-clonic seizures in 50% namespace: medical_genetics is_a: HP:0002069 ! Generalized tonic-clonic seizures [Term] id: HP:0007253 name: Cognitive decline in older patients namespace: medical_genetics is_a: HP:0002303 ! Cognitive decline [Term] id: HP:0007254 name: Pathologic changes in anterior horn cells and lateral corticospinal tracts namespace: medical_genetics is_a: HP:0002492 ! Abnormality of the corticospinal tracts [Term] id: HP:0007255 name: Spastic paraplegia, slowly progressive namespace: medical_genetics is_a: HP:0001258 ! Spastic paraplegia [Term] id: HP:0007256 name: Mild pyramidal signs namespace: medical_genetics is_a: HP:0002062 ! Abnormality of the pyramidal tracts [Term] id: HP:0007257 name: Imaging shows signal abnormalities in basal ganglia namespace: medical_genetics is_a: HP:0002134 ! Abnormality of the basal ganglia [Term] id: HP:0007258 name: Severe demyelination of the white matter namespace: medical_genetics is_a: HP:0003381 ! Demyelination [Term] id: HP:0007259 name: Brisk deep tendon reflexes namespace: medical_genetics is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007260 name: Type II lissencephaly namespace: medical_genetics alt_id: HP:0006853 synonym: "Lissencephaly type II" EXACT [] is_a: HP:0001339 ! Lissencephaly [Term] id: HP:0007261 name: EEG shows 3-4-Hz spike waves namespace: medical_genetics is_a: HP:0002353 ! EEG abnormalities [Term] id: HP:0007262 name: Demyelination, symmetric namespace: medical_genetics is_a: HP:0003381 ! Demyelination [Term] id: HP:0007263 name: Spinocerebellar atrophy namespace: medical_genetics is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0007264 name: Mild mental deterioration namespace: medical_genetics is_a: HP:0001268 ! Mental deterioration [Term] id: HP:0007265 name: Absent mesencephalon namespace: medical_genetics is_a: HP:0002418 ! Abnormality of the midbrain [Term] id: HP:0007266 name: Dysmyelination of the brain namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system is_a: HP:0003469 ! Dysmyelination [Term] id: HP:0007267 name: Emg shows chronic axonal neuropathy namespace: medical_genetics is_a: HP:0003477 ! Axonal neuropathy [Term] id: HP:0007268 name: Aprosencephaly namespace: medical_genetics is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum [Term] id: HP:0007269 name: Spinal muscular atrophy namespace: medical_genetics def: "Muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0007270 name: Atypical absence seizures namespace: medical_genetics is_a: HP:0002121 ! Absence seizures [Term] id: HP:0007271 name: Occipital myelomeningocele namespace: medical_genetics is_a: HP:0002436 ! Occipital meningocele [Term] id: HP:0007272 name: Progressive psychomotor deterioration namespace: medical_genetics is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007274 name: Recurrent bacterial meningitis namespace: medical_genetics is_a: HP:0006946 ! Recurrent meningitis [Term] id: HP:0007275 name: Pyramidal tract dysfunction namespace: medical_genetics is_a: HP:0002062 ! Abnormality of the pyramidal tracts [Term] id: HP:0007276 name: Lower motor neuron disease namespace: medical_genetics is_a: HP:0002366 ! Lower motor neuron signs [Term] id: HP:0007277 name: Paucity of anterior horn motor neurons namespace: medical_genetics is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0007278 name: Peripheral motor neuropathy, severe namespace: medical_genetics is_a: HP:0007178 ! Motor polyneuropathy [Term] id: HP:0007279 name: Emg shows neurogenic changes and denervation namespace: medical_genetics is_a: HP:0002547 ! EMG shows neurogenic changes [Term] id: HP:0007280 name: Acute infantile spinal muscular atrophy namespace: medical_genetics is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0007281 name: Developmental arrest namespace: medical_genetics is_a: HP:0000754 ! Developmental delay [Term] id: HP:0007282 name: Sural nerve biopsy shows mild demyelination namespace: medical_genetics is_a: HP:0003381 ! Demyelination [Term] id: HP:0007283 name: Dementia, progressive, with onset of disease namespace: medical_genetics is_a: HP:0002274 ! Dementia, progressive [Term] id: HP:0007284 name: Myoclonic seizures may occur namespace: medical_genetics def: "Myoclonic seizures may occur in some patients affected." [HPO:curators] comment: This term should not be used for new annotations, instead annotate to the term Myoclonic seizures and use the annotation to state what proportion of affected patients have myoclonic seizures. This term will be obsoleted in the future. is_a: HP:0002123 ! Myoclonic seizures [Term] id: HP:0007285 name: Facial palsy, secondary to cranial hyperostosis namespace: medical_genetics is_a: HP:0004437 ! Cranial hyperostosis [Term] id: HP:0007286 name: Nystagmus, jerky, horizontal, congenital namespace: medical_genetics is_a: HP:0000666 ! Nystagmus, horizontal [Term] id: HP:0007287 name: Peripheral polyneuropathy, esp vibration and touch loss namespace: medical_genetics is_a: HP:0001271 ! Polyneuropathy [Term] id: HP:0007289 name: Limb fasciculations namespace: medical_genetics alt_id: HP:0007049 synonym: "Limb fasciculation" EXACT [] is_a: HP:0002380 ! Fasciculations [Term] id: HP:0007290 name: Sural nerve biopsy shows excessive focal folding of myelin sheaths namespace: medical_genetics is_a: HP:0004335 ! Abnormal formation of myelin sheaths [Term] id: HP:0007291 name: Posterior fossa cysts namespace: medical_genetics alt_id: HP:0006985 synonym: "Posterior fossa cyst" EXACT [] is_a: HP:0000932 ! Abnormality of the posterior fossa [Term] id: HP:0007292 name: Severe distal sensory loss namespace: medical_genetics is_a: HP:0002936 ! Distal sensory impairment [Term] id: HP:0007293 name: Anterior sacral meningocele namespace: medical_genetics is_a: HP:0005765 ! Sacral meningocele [Term] id: HP:0007294 name: Myoclonic seizures, frequent, long-lasting namespace: medical_genetics def: "Frequent and long-lasting myoclonic seizures." [HPO:curators] is_a: HP:0002123 ! Myoclonic seizures [Term] id: HP:0007295 name: Chaotic rapid conjugate ocular movements namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007297 name: Postural tremor of arms namespace: medical_genetics is_a: HP:0002174 ! Postural tremor [Term] id: HP:0007298 name: Progressive cognitive decline namespace: medical_genetics is_a: HP:0002303 ! Cognitive decline [Term] id: HP:0007299 name: Dysfunction of lateral corticospinal tracts namespace: medical_genetics is_a: HP:0002492 ! Abnormality of the corticospinal tracts [Term] id: HP:0007300 name: Severe delay in myelination namespace: medical_genetics is_a: HP:0002188 ! Delayed myelination [Term] id: HP:0007301 name: Oromotor apraxia namespace: medical_genetics is_a: HP:0002186 ! Apraxia [Term] id: HP:0007302 name: Bipolar affective disorder namespace: medical_genetics alt_id: HP:0000755 synonym: "Bipolar disorder" EXACT [] is_a: HP:0000708 ! Behavioural/Psychiatric Manifestations [Term] id: HP:0007304 name: Nerve biopsy shows axonal degeneration namespace: medical_genetics is_a: HP:0000764 ! Axonal degeneration [Term] id: HP:0007305 name: Cns demyelination namespace: medical_genetics is_a: HP:0003381 ! Demyelination [Term] id: HP:0007306 name: MRI shows congenital abnormalities of the posterior fossa namespace: medical_genetics is_a: HP:0000932 ! Abnormality of the posterior fossa [Term] id: HP:0007307 name: Rapid neurologic deterioration namespace: medical_genetics is_a: HP:0002344 ! Progressive neurologic deterioration [Term] id: HP:0007308 name: Extrapyramidal dyskinesia namespace: medical_genetics is_a: HP:0002071 ! Extrapyramidal signs [Term] id: HP:0007309 name: Severe neonatal encephalopathy namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007310 name: Autonomic dysfunction early namespace: medical_genetics is_a: HP:0002387 ! Autonomic dysfunction [Term] id: HP:0007311 name: Short stepped shuffling gait namespace: medical_genetics is_a: HP:0002362 ! Shuffling gait [Term] id: HP:0007312 name: Atrophy of cerebellar vermis namespace: medical_genetics is_a: HP:0002334 ! Abnormality of the cerebellar vermis [Term] id: HP:0007313 name: Cerebral degeneration namespace: medical_genetics is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum [Term] id: HP:0007314 name: White matter neuronal heterotopia namespace: medical_genetics is_a: HP:0007317 ! Heterotopias/abnormal migration [Term] id: HP:0007315 name: Loss of larger myelinated nerve fibers namespace: medical_genetics is_a: HP:0003387 ! Loss of large myelinated fibers [Term] id: HP:0007316 name: Involuntary writhing movements namespace: medical_genetics is_a: HP:0001294 ! Involuntary movements [Term] id: HP:0007317 name: Heterotopias/abnormal migration namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0007318 name: Spasticity, hyperreflexia namespace: medical_genetics is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007319 name: Central nervous system malformations namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system [Term] id: HP:0007320 name: Decreased number of large and small myelinated fibers namespace: medical_genetics is_a: HP:0003380 ! Decreased number of myelinated fibers [Term] id: HP:0007321 name: Deep white matter hypodensities namespace: medical_genetics is_a: HP:0007103 ! Hypodensity of cerebral white matter on MRI [Term] id: HP:0007322 name: Sural nerve biopsy shows loss of myelinated fibers namespace: medical_genetics is_a: HP:0003386 ! Loss of myelinated fibers on nerve biopsy [Term] id: HP:0007323 name: MRI shows defects of the corpus callosum namespace: medical_genetics is_a: HP:0001273 ! Abnormality of the corpus callosum [Term] id: HP:0007324 name: Pyramidal signs, mild namespace: medical_genetics is_a: HP:0007256 ! Mild pyramidal signs [Term] id: HP:0007325 name: Generalized dystonia namespace: medical_genetics is_a: HP:0001332 ! Dystonia [Term] id: HP:0007326 name: Progressive choreoathetosis namespace: medical_genetics is_a: HP:0001266 ! Choreoathetosis [Term] id: HP:0007327 name: Mixed demyelinating and axonal polyneuropathy namespace: medical_genetics is_a: HP:0009830 ! Peripheral neuropathy [Term] id: HP:0007328 name: Decreased pain sensation namespace: medical_genetics is_a: HP:0000707 ! Neurological abnormality [Term] id: HP:0007330 name: Frontal encephalocele namespace: medical_genetics is_a: HP:0002084 ! Encephalocele [Term] id: HP:0007331 name: Cerebellar ataxia, late-onset, slow progression namespace: medical_genetics is_a: HP:0002496 ! Cerebellar ataxia, slowly progressive [Term] id: HP:0007332 name: Seizures, partial, often hemifacial namespace: medical_genetics is_a: HP:0007359 ! Partial seizures [Term] id: HP:0007333 name: Hypoplastic frontal lobes namespace: medical_genetics is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system [Term] id: HP:0007334 name: Partial seizures with secondary generalization namespace: medical_genetics is_a: HP:0007359 ! Partial seizures [Term] id: HP:0007335 name: Encephalopathy, recurrent namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007336 name: Widened cavum septum pellucidum namespace: medical_genetics is_a: HP:0002389 ! Cavum septum pellucidum [Term] id: HP:0007337 name: Non-purposeful arm movements, choreoathetoid-like namespace: medical_genetics is_a: HP:0002469 ! Choreoathetoid movements [Term] id: HP:0007338 name: Hypermetric saccades namespace: medical_genetics is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0007339 name: Generalized seizures, recurrent namespace: medical_genetics is_a: HP:0002197 ! Generalized seizures [Term] id: HP:0007340 name: Lower limb muscle weakness namespace: medical_genetics alt_id: HP:0002065 alt_id: HP:0002477 alt_id: HP:0009047 def: "Weakness of the muscles of the legs." [HPO:curators] comment: Inability to perform rapid, alternating movements. synonym: "Lower extremity weakness" EXACT [] synonym: "Lower limb weakness" EXACT [] synonym: "Muscle weakness in lower limbs" EXACT [] is_a: HP:0001324 ! Muscle weakness is_a: HP:0003690 ! Limb muscle weakness [Term] id: HP:0007341 name: Diffuse swelling of cerebral white matter namespace: medical_genetics is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007342 name: Lack of psychomotor development namespace: medical_genetics is_a: HP:0001277 ! Severe psychomotor retardation [Term] id: HP:0007343 name: Limbic malformations namespace: medical_genetics is_a: HP:0002060 ! Abnormality of the cerebrum [Term] id: HP:0007344 name: Atrophy/Degeneration involving the spinal cord namespace: medical_genetics synonym: "Atrophic and degenerative changes in the spinal cord" EXACT [] is_a: HP:0002143 ! Abnormality of the spinal cord and vertebral column is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system [Term] id: HP:0007345 name: Distal sensory and motor axonal neuropathy namespace: medical_genetics is_a: HP:0003390 ! Sensory axonal neuropathy [Term] id: HP:0007346 name: Subcortical white matter calcifications namespace: medical_genetics is_a: HP:0002500 ! Abnormality of the cerebral white matter [Term] id: HP:0007347 name: Pyramidal tract signs in legs namespace: medical_genetics is_a: HP:0002062 ! Abnormality of the pyramidal tracts [Term] id: HP:0007348 name: Pyramidal tract hypoplasia namespace: medical_genetics is_a: HP:0007363 ! Aplasia/Hypoplasia of the pyramidal tract [Term] id: HP:0007349 name: Distal motor neuropathy namespace: medical_genetics is_a: HP:0002450 ! Abnormality of the motor neurons [Term] id: HP:0007350 name: Hyperreflexia in upper limbs namespace: medical_genetics is_a: HP:0001347 ! Hyperreflexia [Term] id: HP:0007351 name: Upper limb postural tremor namespace: medical_genetics is_a: HP:0002174 ! Postural tremor [Term] id: HP:0007352 name: Cerebellar calcifications namespace: medical_genetics is_a: HP:0001317 ! Abnormality of the cerebellum [Term] id: HP:0007353 name: Neonatal/early-infantile onset encephalopathy namespace: medical_genetics is_a: HP:0001298 ! Encephalopathy [Term] id: HP:0007354 name: Amyotrophic lateral sclerosis namespace: medical_genetics is_a: HP:0007373 ! Atrophy/Degeneration involving motor neurons [Term] id: HP:0007355 name: Peripheral neuropathy, mild, in some namespace: medical_genetics is_a: HP:0007235 ! Peripheral neuropathy, mild [Term] id: HP:0007357 name: Occipital meningoencephalocele namespace: medical_genetics is_a: HP:0002085 ! Occipital encephalocele [Term] id: HP:0007358 name: Facial palsy due to cranial nerve vii compression namespace: medical_genetics is_a: HP:0001293 ! Cranial nerve compression [Term] id: HP:0007359 name: Partial seizures namespace: medical_genetics is_a: HP:0001250 ! Seizures created_by: peter creation_date: 2008-03-31T05:27:00Z [Term] id: HP:0007360 name: Aplasia/Hypoplasia of the cerebellum namespace: medical_genetics is_a: HP:0001317 ! Abnormality of the cerebellum is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:30:00Z [Term] id: HP:0007361 name: Abnormality of the pons namespace: medical_genetics comment: The pons is the portion of the brainstem superior to the medulla oblongata. is_a: HP:0002363 ! Abnormality of the brainstem created_by: peter creation_date: 2008-03-31T05:32:00Z [Term] id: HP:0007362 name: Aplasia/Hypoplasia of the brainstem namespace: medical_genetics is_a: HP:0002363 ! Abnormality of the brainstem is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:33:00Z [Term] id: HP:0007363 name: Aplasia/Hypoplasia of the pyramidal tract namespace: medical_genetics is_a: HP:0002062 ! Abnormality of the pyramidal tracts is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:41:00Z [Term] id: HP:0007364 name: Aplasia/Hypoplasia of the cerebrum namespace: medical_genetics is_a: HP:0002060 ! Abnormality of the cerebrum is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:43:00Z [Term] id: HP:0007365 name: Aplasia/Hypoplasia involving the corticospinal tracts namespace: medical_genetics is_a: HP:0002492 ! Abnormality of the corticospinal tracts is_a: HP:0002977 ! Aplasia/Hypoplasia involving the central nervous system created_by: peter creation_date: 2008-03-31T05:45:00Z [Term] id: HP:0007366 name: Atrophy/Degeneration affecting the brainstem namespace: medical_genetics is_a: HP:0002363 ! Abnormality of the brainstem is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-04-01T10:22:00Z [Term] id: HP:0007367 name: Atrophy/Degeneration affecting the central nervous system namespace: medical_genetics is_a: HP:0002011 ! Abnormality of the central nervous system created_by: peter creation_date: 2008-04-01T10:23:00Z [Term] id: HP:0007368 name: Atrophy/Degeneration affecting the cerebellum namespace: medical_genetics is_a: HP:0001317 ! Abnormality of the cerebellum is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-04-01T10:23:00Z [Term] id: HP:0007369 name: Atrophy/Degeneration affecting the cerebrum namespace: medical_genetics is_a: HP:0002060 ! Abnormality of the cerebrum created_by: peter creation_date: 2008-04-01T10:28:00Z [Term] id: HP:0007370 name: Aplasia/Hypoplasia of the corpus callosum namespace: medical_genetics alt_id: HP:0007003 alt_id: HP:0007060 alt_id: HP:0007061 alt_id: HP:0007137 def: "Absence or underdevelopment of the corpus callosum." [HPO:curators] synonym: "Absent/hypoplastic corpus callosum" EXACT [] synonym: "Agenesis/hypoplasic corpus collosum" EXACT [] synonym: "Hypoplasia or absence of the corpus callosum" EXACT [] synonym: "Hypoplastic or absent corpus callosum" EXACT [] is_a: HP:0001273 ! Abnormality of the corpus callosum is_a: HP:0007364 ! Aplasia/Hypoplasia of the cerebrum created_by: peter creation_date: 2008-04-01T10:35:00Z [Term] id: HP:0007371 name: Atrophy/Degeneration of the corpus callosum namespace: medical_genetics is_a: HP:0001273 ! Abnormality of the corpus callosum is_a: HP:0007369 ! Atrophy/Degeneration affecting the cerebrum created_by: peter creation_date: 2008-04-01T10:36:00Z [Term] id: HP:0007372 name: Atrophy/Degeneration involving the corticospinal tracts namespace: medical_genetics is_a: HP:0002492 ! Abnormality of the corticospinal tracts is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-04-01T10:38:00Z [Term] id: HP:0007373 name: Atrophy/Degeneration involving motor neurons namespace: medical_genetics is_a: HP:0002450 ! Abnormality of the motor neurons is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-04-01T10:39:00Z [Term] id: HP:0007374 name: Atrophy/Degeneration involving the caudate nucleus namespace: medical_genetics is_a: HP:0002339 ! Abnormality of the caudate nucleus is_a: HP:0007367 ! Atrophy/Degeneration affecting the central nervous system created_by: peter creation_date: 2008-04-01T10:47:00Z [Term] id: HP:0007375 name: Abnormality of the septum pellucidum namespace: medical_genetics is_a: HP:0002060 ! Abnormality of the cerebrum created_by: peter creation_date: 2008-04-01T10:48:00Z [Term] id: HP:0007376 name: Abnormality of the choroid plexus namespace: medical_genetics is_a: HP:0002118 ! Abnormality of the cerebral ventricles created_by: peter creation_date: 2008-04-01T10:52:00Z [Term] id: HP:0007377 name: Abnormality of somatosensory evoked potentials namespace: medical_genetics is_a: HP:0001311 ! Neurophysiological abnormality created_by: peter creation_date: 2008-04-01T11:23:00Z [Term] id: HP:0007378 name: Gastrointestinal tract tumors namespace: medical_genetics is_a: HP:0002664 ! Oncology created_by: peter creation_date: 2008-04-01T11:55:00Z [Term] id: HP:0007379 name: Genitourinary tract tumors namespace: medical_genetics is_a: HP:0002664 ! Oncology created_by: peter creation_date: 2008-04-01T12:00:00Z [Term] id: HP:0007380 name: Facial telangiectatic vessels namespace: medical_genetics alt_id: HP:0007520 def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the face." [HPO:curators] synonym: "Telangiectasia, facial" EXACT [] is_a: HP:0001009 ! Telangiectases [Term] id: HP:0007381 name: Congenital exfoliative erythroderma namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007383 name: Congenital localized absence of skin namespace: medical_genetics alt_id: HP:0007557 synonym: "Congenital localized skin absence" EXACT [] is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007384 name: Aberrant melanosome maturation namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007385 name: Aplasia cutis congenita of scalp namespace: medical_genetics alt_id: HP:0000994 synonym: "Scalp defect" EXACT [] is_a: HP:0001057 ! Aplasia cutis congenita is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007386 name: Neurofibromas may or may not be present namespace: medical_genetics is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0007387 name: Hypoplastic sweat glands namespace: medical_genetics is_a: HP:0000971 ! Abnormality of the sweat glands [Term] id: HP:0007388 name: Congenital lamellar ichthyosis namespace: medical_genetics is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007389 name: Skin hyperelasticity namespace: medical_genetics is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0007390 name: Hyperkeratosis with erythema namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007391 name: Redundant skin folds namespace: medical_genetics is_a: HP:0001582 ! Loose, redundant skin [Term] id: HP:0007392 name: Excessive wrinkled skin namespace: medical_genetics is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0007393 name: Diffusely thickened skin namespace: medical_genetics is_a: HP:0001072 ! Thickened skin [Term] id: HP:0007394 name: Prominent superficial blood vessels namespace: medical_genetics alt_id: HP:0007577 synonym: "Prominent superficial vasculature" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007395 name: Postnatal-onset ichthyosis namespace: medical_genetics is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007396 name: Early cutaneous photosensitivity namespace: medical_genetics is_a: HP:0000992 ! Photosensitivity [Term] id: HP:0007397 name: Axillary apocrine gland hypoplasia namespace: medical_genetics is_a: HP:0000971 ! Abnormality of the sweat glands [Term] id: HP:0007398 name: Asymmetric, linear skin defects namespace: medical_genetics is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007399 name: Telangiectases of palms and soles namespace: medical_genetics is_a: HP:0001009 ! Telangiectases [Term] id: HP:0007400 name: Irregular hyperpigmentation namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007401 name: Primary noninflammatory macular atrophy namespace: medical_genetics is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007402 name: Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines namespace: medical_genetics is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007403 name: Hypertrophy of skin of soles namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007404 name: Nonepidermolytic palmoplantar keratoderma namespace: medical_genetics is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007405 name: Telangiectases, random body distribution namespace: medical_genetics is_a: HP:0001009 ! Telangiectases [Term] id: HP:0007406 name: Hyperpigmentation of eyelids namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007407 name: Excessive skin wrinkling on dorsum of hands and fingers namespace: medical_genetics is_a: HP:0007392 ! Excessive wrinkled skin [Term] id: HP:0007408 name: Tegumentary leishmaniasis susceptibility namespace: medical_genetics is_a: HP:0002964 ! Susceptibility to infection [Term] id: HP:0007409 name: Absence of subcutaneous fat over entire body except buttocks, hips, and thighs namespace: medical_genetics is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0007410 name: Palmoplantar hyperhidrosis namespace: medical_genetics is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0007411 name: Hypoplastic-absent sebaceous glands namespace: medical_genetics is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007412 name: Macular hyperpigmented dermopathy namespace: medical_genetics is_a: HP:0001034 ! Hyperpigmented macules [Term] id: HP:0007413 name: Forehead nevus flammeus namespace: medical_genetics is_a: HP:0001052 ! Nevus flammeus [Term] id: HP:0007414 name: Neonatal wrinkled skin of hands and feet namespace: medical_genetics is_a: HP:0001016 ! Excessive wrinkled skin (palms and soles) [Term] id: HP:0007415 name: Xeroderma pigmentosum namespace: medical_genetics is_a: HP:0008069 ! Dermatological tumors [Term] id: HP:0007416 name: Multiple truncal cafe-au-lait spots namespace: medical_genetics is_a: HP:0000957 ! Cafe-au-lait spots [Term] id: HP:0007417 name: Discoid lupus erythematosus namespace: medical_genetics is_a: HP:0001005 ! Dermatological manifestations of systemic disorders [Term] id: HP:0007418 name: Alopecia totalis namespace: medical_genetics is_a: HP:0001596 ! Alopecia [Term] id: HP:0007419 name: Pale pigmentation namespace: medical_genetics is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007420 name: Spontaneous hematomas namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007421 name: Telangiectases of the cheeks namespace: medical_genetics def: "Telangiectases (small dilated blood vessels) located near the surface of the skin of the cheeks." [HPO:curators] is_a: HP:0007380 ! Facial telangiectatic vessels [Term] id: HP:0007422 name: Dermatoglyphic abnormalities namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007423 name: Inflammatory skin disease namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007425 name: Excessively stretchable skin of face and chest namespace: medical_genetics is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0007426 name: Progressive systemic scleroderma namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007427 name: Reticulated skin pigmentation namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007428 name: Telangiectasia on lips and oral mucosa namespace: medical_genetics is_a: HP:0000228 ! Teleangiectases in oral cavity [Term] id: HP:0007429 name: Few pale relatively large cafe-au-lait spots namespace: medical_genetics is_a: HP:0000957 ! Cafe-au-lait spots [Term] id: HP:0007430 name: Generalized edema namespace: medical_genetics alt_id: HP:0007575 def: "Generalized abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body." [HPO:curators] synonym: "Generalized tissue edema" EXACT [] is_a: HP:0000969 ! Edema [Term] id: HP:0007431 name: Congenital ichthyosiform erythroderma namespace: medical_genetics is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007432 name: Intermittent generalized erythematous papular rash namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007433 name: Mild-moderate bruisability namespace: medical_genetics is_a: HP:0000978 ! Ecchymoses [Term] id: HP:0007434 name: Hemangioma, facial, plaque-like namespace: medical_genetics def: "Hemangioma is a benign tumor of the vascular endothelial cells. This term refers to facial hemangiomas that have a plaque-like morphology." [HPO:curators] is_a: HP:0000329 ! Facial hemangioma [Term] id: HP:0007435 name: Diffuse palmoplantar keratoderma namespace: medical_genetics is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007436 name: Hair-nail ectodermal dysplasia namespace: medical_genetics is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007437 name: Multiple cutaneous leiomyomas namespace: medical_genetics is_a: HP:0008069 ! Dermatological tumors [Term] id: HP:0007438 name: 'mottled' pigmentation of the trunk and proximal extremities namespace: medical_genetics is_a: HP:0001070 ! Mottled pigmentation [Term] id: HP:0007439 name: Generalized keratosis follicularis namespace: medical_genetics is_a: HP:0001035 ! Abnormality of keratinization [Term] id: HP:0007440 name: Generalized hyperpigmentation namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007441 name: Hyperpigmented/hypopigmented macules namespace: medical_genetics is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007442 name: Hyperpigmented erythematous lesions namespace: medical_genetics is_a: HP:0001034 ! Hyperpigmented macules [Term] id: HP:0007443 name: Partial albinism namespace: medical_genetics is_a: HP:0001022 ! Albinism [Term] id: HP:0007444 name: Hemangiomata, especially thorax and upper abdomen namespace: medical_genetics is_a: HP:0001028 ! Hemangiomas [Term] id: HP:0007445 name: Moderate plantar hyperkeratosis namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007446 name: Epidermolysis bullosa involving hands and feet only namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007447 name: Hyperkeratosis, diffuse palmoplantar namespace: medical_genetics is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007448 name: Hyperkeratosis over edematous areas namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007449 name: Confetti-like hypopigmented macules namespace: medical_genetics is_a: HP:0001034 ! Hyperpigmented macules [Term] id: HP:0007450 name: Increased groin pigmentation with raindrop depigmentation namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007451 name: Ipsilateral lack of facial sweating namespace: medical_genetics is_a: HP:0000971 ! Abnormality of the sweat glands [Term] id: HP:0007452 name: Midface capillary hemangioma namespace: medical_genetics alt_id: HP:0007611 synonym: "Midfacial capillary hemangioma" EXACT [] is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007453 name: Flexural lichenification in adults namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007454 name: Cafe-au-lait spots may or may not be present namespace: medical_genetics is_a: HP:0000957 ! Cafe-au-lait spots [Term] id: HP:0007455 name: Adermatoglyphia namespace: medical_genetics is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0007456 name: Progressive reticulate hyperpigmentation namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007457 name: Prominent thoracic and abdominal veins namespace: medical_genetics is_a: HP:0001015 ! Prominent superficial veins [Term] id: HP:0007458 name: Focal hyperextensible skin namespace: medical_genetics is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0007459 name: Generalized anhidrosis namespace: medical_genetics is_a: HP:0000971 ! Abnormality of the sweat glands [Term] id: HP:0007460 name: Autoamputation of digits namespace: medical_genetics is_a: HP:0001218 ! Autoamputation [Term] id: HP:0007461 name: Hemangiomatosis namespace: medical_genetics is_a: HP:0001028 ! Hemangiomas [Term] id: HP:0007462 name: Bitot spots of the conjunctiva namespace: medical_genetics is_a: HP:0000502 ! Abnormality of the conjunctiva [Term] id: HP:0007463 name: Frequent bleeding may occur with trauma namespace: medical_genetics is_a: HP:0001934 ! Persistent bleeding after trauma [Term] id: HP:0007464 name: Sparse axillary and facial hair namespace: medical_genetics is_a: HP:0002215 ! Sparse axillary hair [Term] id: HP:0007465 name: Honeycomb palmoplantar keratoderma namespace: medical_genetics is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007466 name: Midfrontal capillary hemangioma namespace: medical_genetics is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007467 name: Blistering, generalized, neonatal onset namespace: medical_genetics is_a: HP:0008066 ! Abnormal blistering of the skin [Term] id: HP:0007468 name: Perifollicular hyperkeratosis namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007469 name: Cutis gyrata of palms and soles namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007470 name: Periarticular subcutaneous nodules namespace: medical_genetics is_a: HP:0001482 ! Subcutaneous nodules [Term] id: HP:0007471 name: Axillary and groin hyperpigmentation and hypopigmentation namespace: medical_genetics is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007472 name: Generalized bruising tendency namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007473 name: Crusting erythematous dermatitis namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007475 name: Epidermolytic hyperkeratosis namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007476 name: Anhidrotic ectodermal dysplasia namespace: medical_genetics is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007477 name: Abmormal dermatoglyphics namespace: medical_genetics is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0007478 name: Ichthyosis, congenital namespace: medical_genetics is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007479 name: Congenital nonbullous ichthyosiform erythroderma namespace: medical_genetics alt_id: HP:0007625 synonym: "Nonbullous congenital ichthyosiform erythroderma" EXACT [] is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007480 name: Decreased sweating due to autonomic dysfunction namespace: medical_genetics is_a: HP:0000966 ! Hypohidrosis [Term] id: HP:0007481 name: Hyperpigmented nevi namespace: medical_genetics is_a: HP:0000995 ! Pigmented nevi [Term] id: HP:0007482 name: Papillary lesions, generalized namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007483 name: Depigmentation/hyperpigmentation namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007484 name: Congenital ichthyosis namespace: medical_genetics is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007485 name: Absence of subcutaneous fat namespace: medical_genetics synonym: "General absence of subcutaneous fat" EXACT [] is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0007486 name: Cavernous hemangiomas, face namespace: medical_genetics is_a: HP:0001048 ! Cavernous hemangioma [Term] id: HP:0007488 name: Diffuse skin atrophy namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007489 name: Diffuse telangiectases namespace: medical_genetics def: "Telangiectases (small dilated blood vessels) with a diffuse localization." [HPO:curators] is_a: HP:0001009 ! Telangiectases [Term] id: HP:0007490 name: Linear arrays of macular hyperkeratoses in flexural areas namespace: medical_genetics is_a: HP:0001035 ! Abnormality of keratinization [Term] id: HP:0007491 name: Hyperpigmented spots on hands , legs, and lips namespace: medical_genetics is_a: HP:0001034 ! Hyperpigmented macules [Term] id: HP:0007492 name: Hyperpigmented skin patches namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007493 name: Mild skin hyperextensibility namespace: medical_genetics is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0007494 name: Discrete 2 to 5-mm hyper- and hypopigmented macules namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007495 name: Prematurely aged appearance namespace: medical_genetics alt_id: HP:0001599 synonym: "Precociously senile appearance" EXACT [] is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007496 name: Blisters esp on palms, soles, perioral, trunk and neck namespace: medical_genetics is_a: HP:0008066 ! Abnormal blistering of the skin [Term] id: HP:0007497 name: Hyperkeratosis, palmoplantar, focal friction-related namespace: medical_genetics is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007498 name: Flexural acanthosis nigricans namespace: medical_genetics is_a: HP:0000956 ! Acanthosis nigricans [Term] id: HP:0007499 name: Recurrent staphylococcal infections namespace: medical_genetics is_a: HP:0002718 ! Recurrent bacterial infections [Term] id: HP:0007500 name: Decreased number of sweat pores namespace: medical_genetics alt_id: HP:0007594 synonym: "Decreased sweat pores" EXACT [] is_a: HP:0000971 ! Abnormality of the sweat glands [Term] id: HP:0007501 name: Streaks of hyperkeratosis along each finger onto the palm namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007502 name: Follicular hyperkeratosis namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007503 name: Generalized ichthyosis namespace: medical_genetics is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007504 name: Diffuse slow skin atrophy namespace: medical_genetics is_a: HP:0007488 ! Diffuse skin atrophy [Term] id: HP:0007505 name: Familial progressive hyperpigmentation namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007506 name: Congenital absence of skin of limbs namespace: medical_genetics is_a: HP:0007383 ! Congenital localized absence of skin [Term] id: HP:0007508 name: Punctate palmar and solar hyperkeratosis namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007509 name: Patchy hypo- and hyperpigmentation namespace: medical_genetics alt_id: HP:0007487 synonym: "Patchy hypo- and hyper-pigmentation" EXACT [] is_a: HP:0009123 ! Mixed hypo- and hyperpigmentation of the skin [Term] id: HP:0007510 name: Focal dermal aplasia/hypoplasia namespace: medical_genetics is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007511 name: Mottled pigmentation of photoexposed areas namespace: medical_genetics is_a: HP:0001070 ! Mottled pigmentation [Term] id: HP:0007512 name: Congenital non-bullous ichthyosis namespace: medical_genetics is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007513 name: Generalized hypopigmentation namespace: medical_genetics is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007514 name: Edema of the dorsum of hands and feet namespace: medical_genetics alt_id: HP:0007528 def: "An abnormal accumulation of fluid beneath the skin on the back of the hands and feet." [HPO:curators] synonym: "Edema of dorsum of hands and feet" EXACT [] is_a: HP:0000969 ! Edema [Term] id: HP:0007515 name: Hypoplastic pilosebaceous units namespace: medical_genetics is_a: HP:0008065 ! Aplasia/Hypoplasia of the skin [Term] id: HP:0007516 name: Loose, redundant skin on fingers namespace: medical_genetics is_a: HP:0001582 ! Loose, redundant skin [Term] id: HP:0007517 name: Cutis laxa, hands and feet namespace: medical_genetics is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0007518 name: Benign acanthosis nigricans namespace: medical_genetics is_a: HP:0000956 ! Acanthosis nigricans [Term] id: HP:0007519 name: Lack of subcutaneous fatty tissue namespace: medical_genetics is_a: HP:0001002 ! Decreased subcutaneous fat [Term] id: HP:0007521 name: Irregular hyperpigmentation of back namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007522 name: Increased number of skin folds namespace: medical_genetics is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0007523 name: Mild hyperkeratosis namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007524 name: Atypical neurofibromatosis namespace: medical_genetics is_a: HP:0006746 ! Neurofibromatosis [Term] id: HP:0007525 name: Yellow subcutaneous tissue covered by thin, scaly skin namespace: medical_genetics is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0007526 name: Hypopigmented skin patches on arms namespace: medical_genetics is_a: HP:0001053 ! Hypopigmented skin patches [Term] id: HP:0007527 name: Increased skin pigmentation namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007529 name: Hidrotic ectodermal dysplasia namespace: medical_genetics is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007530 name: Punctate palmoplantar hyperkeratosis namespace: medical_genetics is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007531 name: Redundant, wrinkled skin of palms namespace: medical_genetics is_a: HP:0008067 ! Abnormally lax or hyperextensible skin [Term] id: HP:0007533 name: Severe atopic dermatitis namespace: medical_genetics is_a: HP:0001047 ! Atopic dermatitis [Term] id: HP:0007534 name: Congenital posterior occipital alopecia namespace: medical_genetics is_a: HP:0001596 ! Alopecia [Term] id: HP:0007535 name: Hypopigmented streaks namespace: medical_genetics is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007536 name: Aplasia cutis congenita of midline scalp vertex namespace: medical_genetics is_a: HP:0004471 ! aplasia cutis congenita over the scalp vertex [Term] id: HP:0007537 name: Severe photosensitivity namespace: medical_genetics is_a: HP:0000992 ! Photosensitivity [Term] id: HP:0007538 name: Photosensitive skin namespace: medical_genetics is_a: HP:0000992 ! Photosensitivity [Term] id: HP:0007539 name: Hyperkeratosis, gingival namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007540 name: Hyperpigmentation, marked generalized namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007541 name: Frontal cutaneous lipoma namespace: medical_genetics is_a: HP:0001012 ! Lipomas [Term] id: HP:0007542 name: Absent pigmentation of ventral chest, abdomen and limbs namespace: medical_genetics is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007543 name: Epidermal hyperkeratosis namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007544 name: Piebald pigmentary variegation namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007545 name: Congenital palmoplantar keratosis namespace: medical_genetics is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007546 name: Linear or reticular hyperpigmentation namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007547 name: Hypertrophic ichthyosis, esp scalp, ears, neck and flexures namespace: medical_genetics is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007548 name: Palmoplantar keratosis with erythema and scale namespace: medical_genetics is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007549 name: Desquamation of skin soon after birth namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007550 name: Hypohidrosis/hyperhidrosis namespace: medical_genetics is_a: HP:0000971 ! Abnormality of the sweat glands [Term] id: HP:0007551 name: Decreased ability to sweat namespace: medical_genetics is_a: HP:0000971 ! Abnormality of the sweat glands [Term] id: HP:0007552 name: Abnormal subcutaneous fat tissue distribution namespace: medical_genetics is_a: HP:0001001 ! Abnormality of subcutaneous fat tissue [Term] id: HP:0007553 name: Congenital symmetrical palmoplantar keratosis namespace: medical_genetics is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007554 name: Confetti hypopigmentation pattern of lower leg skin namespace: medical_genetics is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007555 name: Decreased sweat glands namespace: medical_genetics is_a: HP:0000971 ! Abnormality of the sweat glands [Term] id: HP:0007556 name: Plantar hyperkeratosis namespace: medical_genetics alt_id: HP:0007382 def: "An abnormal thickening of the sole of the feet (plantar) due to thickening of the stratum corneum and often associated with an abnormality of keratin (hyperkeratosis)." [HPO:curators] synonym: "Plantar hyperkeratoses" EXACT [] is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007558 name: Toenails mildly to moderately dystrophic or atrophic namespace: medical_genetics is_a: HP:0001794 ! Dystrophic nails [Term] id: HP:0007559 name: Localized epidermolytic hyperkeratosis namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007560 name: Unusual dermatoglyphics namespace: medical_genetics is_a: HP:0005882 ! Dermatoglyphic variants [Term] id: HP:0007561 name: Telangiectases in sun-exposed and nonexposed skin namespace: medical_genetics is_a: HP:0001009 ! Telangiectases [Term] id: HP:0007562 name: Dysseborrheic dermatitis namespace: medical_genetics is_a: HP:0001051 ! Seborrheic dermatitis [Term] id: HP:0007564 name: Atopic dermatitis, chronic namespace: medical_genetics is_a: HP:0001047 ! Atopic dermatitis [Term] id: HP:0007565 name: Multiple cafe-au-lait spots namespace: medical_genetics is_a: HP:0000957 ! Cafe-au-lait spots [Term] id: HP:0007566 name: Index finger dermatoglyphic radial loop namespace: medical_genetics is_a: HP:0005882 ! Dermatoglyphic variants [Term] id: HP:0007567 name: Thin, atrophic scars namespace: medical_genetics is_a: HP:0001075 ! Atrophic scars [Term] id: HP:0007568 name: Scalp aplasia cutis congenita namespace: medical_genetics is_a: HP:0001057 ! Aplasia cutis congenita [Term] id: HP:0007569 name: Generalized seborrheic dermatitis namespace: medical_genetics is_a: HP:0001051 ! Seborrheic dermatitis [Term] id: HP:0007570 name: Hyperkeratosis lenticularis perstans namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007571 name: Hypohidrosis may be present namespace: medical_genetics is_a: HP:0000966 ! Hypohidrosis [Term] id: HP:0007572 name: Hyperpigmented streaks namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007573 name: Late onset atopic dermatitis namespace: medical_genetics is_a: HP:0001047 ! Atopic dermatitis [Term] id: HP:0007574 name: Generalized bronze hyperpigmentation namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007576 name: Palmar neurofibromas namespace: medical_genetics is_a: HP:0001067 ! Neurofibromas [Term] id: HP:0007578 name: Mildly extensible skin namespace: medical_genetics is_a: HP:0000974 ! Hyperextensible skin [Term] id: HP:0007579 name: Reticulate hyperpigmentation namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007580 name: Xeroderma pigmentosum complementation group E, subtype 2 namespace: medical_genetics is_a: HP:0007415 ! Xeroderma pigmentosum [Term] id: HP:0007581 name: Mediosternal, longitudinal streak of hypopigmentation namespace: medical_genetics is_a: HP:0001010 ! Hypopigmentation of the skin [Term] id: HP:0007583 name: Telangiectasia macularis eruptiva perstans namespace: medical_genetics is_a: HP:0001009 ! Telangiectases [Term] id: HP:0007584 name: Mottled or stippled pigmentation namespace: medical_genetics is_a: HP:0001070 ! Mottled pigmentation [Term] id: HP:0007585 name: Skin fragility with non-scarring blistering namespace: medical_genetics is_a: HP:0001030 ! Fragile skin [Term] id: HP:0007586 name: Telangiectases producing 'marbled' skin namespace: medical_genetics is_a: HP:0001009 ! Telangiectases [Term] id: HP:0007587 name: Numerous pigmented freckles namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007588 name: Reticular hyperpigmentation namespace: medical_genetics is_a: HP:0000953 ! Hyperpigmentation [Term] id: HP:0007589 name: Aplasia cutis congenita on trunk or limbs namespace: medical_genetics is_a: HP:0001057 ! Aplasia cutis congenita [Term] id: HP:0007590 name: Aplasia cutis congenita over posterior parietal area namespace: medical_genetics is_a: HP:0004476 ! aplasia cutis congenita over parietal area [Term] id: HP:0007591 name: Acanthosis nigricans in patients with diabetes namespace: medical_genetics is_a: HP:0000956 ! Acanthosis nigricans [Term] id: HP:0007592 name: Hypoplastic-absent eccrine sweat glands namespace: medical_genetics is_a: HP:0000971 ! Abnormality of the sweat glands [Term] id: HP:0007593 name: Absent or hypoplastic fingernails namespace: medical_genetics synonym: "Absent/hypoplastic finger nails" EXACT [] synonym: "Hypoplastic/aplastic fingernails" EXACT [] is_a: HP:0001804 ! Hypoplastic fingernails [Term] id: HP:0007595 name: Redundant skin in infancy namespace: medical_genetics is_a: HP:0001582 ! Loose, redundant skin [Term] id: HP:0007596 name: Painful trunk and limb subcutaneous lipomas namespace: medical_genetics is_a: HP:0001031 ! Subcutaneous lipomas [Term] id: HP:0007597 name: Congenital palmoplantar keratodermia namespace: medical_genetics is_a: HP:0000982 ! Palmoplantar keratoderma [Term] id: HP:0007598 name: Bilateral single palmar creases namespace: medical_genetics is_a: HP:0000954 ! Transverse palmar creases [Term] id: HP:0007599 name: Generalized reticulate brown pigmentation in males namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007600 name: Hyperkeratosis follicularis namespace: medical_genetics is_a: HP:0000962 ! Hyperkeratosis [Term] id: HP:0007601 name: Midline facial capillary hemangioma namespace: medical_genetics is_a: HP:0000996 ! Facial capillary hemangioma [Term] id: HP:0007602 name: Complex palmar dermatoglyphic pattern namespace: medical_genetics is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0007603 name: Freckles in sun-exposed areas namespace: medical_genetics is_a: HP:0005586 ! Hyperpigmentation in sun-exposed areas [Term] id: HP:0007605 name: Excessive wrinkling of palmar skin namespace: medical_genetics is_a: HP:0007392 ! Excessive wrinkled skin [Term] id: HP:0007606 name: Multiple cutaneous malignancies namespace: medical_genetics is_a: HP:0008069 ! Dermatological tumors [Term] id: HP:0007607 name: Hypohidrotic ectodermal dysplasia namespace: medical_genetics is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007608 name: Abnormal palmar dermal ridges namespace: medical_genetics is_a: HP:0001018 ! Abnormal palmar dermatoglyphics [Term] id: HP:0007609 name: Hypoproteinemic edema namespace: medical_genetics def: "An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body because of decreased osmotic pressure of plasma (hypoproteinemia)." [HPO:curators] is_a: HP:0000969 ! Edema [Term] id: HP:0007610 name: Blotching pigmentation of the skin namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007613 name: Spinous keratoses of palms and soles namespace: medical_genetics is_a: HP:0000972 ! Palmoplantar hyperkeratosis [Term] id: HP:0007615 name: Mild variable ectodermal dysplasia namespace: medical_genetics is_a: HP:0000968 ! Ectodermal dysplasia [Term] id: HP:0007616 name: Nevus flammeus nuchae namespace: medical_genetics is_a: HP:0001052 ! Nevus flammeus [Term] id: HP:0007617 name: Fine, reticulate skin pigmentation namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007618 name: Subcutaneous calcification namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality [Term] id: HP:0007619 name: Ichthyosis, congenital, nonblistering namespace: medical_genetics is_a: HP:0008064 ! Ichthyosiform abnormality of the skin [Term] id: HP:0007620 name: Cutaneous leiomyomata namespace: medical_genetics alt_id: HP:0007507 def: "Cutaneous leiomyomata are benign soft tissue neoplasms that arise from smooth muscle cells in the skin." [HPO:curators] synonym: "Cutaneous leiomyomas" EXACT [] is_a: HP:0008069 ! Dermatological tumors [Term] id: HP:0007621 name: Telangiectasia of extensor surfaces namespace: medical_genetics is_a: HP:0001009 ! Telangiectases [Term] id: HP:0007622 name: Mild localized pigmentation abnormalities namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007623 name: Pigmentation anomalies of sun-exposed skin namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation [Term] id: HP:0007624 name: Hyperhidrosis of palms and soles namespace: medical_genetics is_a: HP:0000975 ! Hyperhidrosis [Term] id: HP:0007626 name: Mandibular osteomyelitis namespace: medical_genetics is_a: HP:0002754 ! Osteomyelitis [Term] id: HP:0007627 name: Mandibular condyle aplasia namespace: medical_genetics is_a: HP:0005790 ! Short mandibular condyles [Term] id: HP:0007628 name: Mandibular condyle hypoplasia namespace: medical_genetics is_a: HP:0005790 ! Short mandibular condyles [Term] id: HP:0007629 name: Abnormal intrauterine movements namespace: medical_genetics is_a: HP:0001197 ! Prenatal manifestations and birth abnormalities [Term] id: HP:0007630 name: Decreased movement in utero namespace: medical_genetics is_a: HP:0001558 ! Decreased fetal movement [Term] id: HP:0007631 name: Decreased fetal movements may occur namespace: medical_genetics is_a: HP:0001558 ! Decreased fetal movement [Term] id: HP:0007632 name: Retinal degeneration in some individuals namespace: medical_genetics is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007633 name: Bilateral microphthalmos namespace: medical_genetics alt_id: HP:0001585 def: "A developmental anomaly characterized by abnormal smallness of both eyes." [HPO:curators] synonym: "Microphthalmia, bilateral" EXACT [] is_a: HP:0000568 ! Microphthalmos [Term] id: HP:0007634 name: Nonarteritic anterior ischemic optic neuropathy namespace: medical_genetics is_a: HP:0001138 ! Optic neuropathy [Term] id: HP:0007635 name: Retinitis pigmentosa, severe, early-onset namespace: medical_genetics is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0007636 name: Decreased or absent electroretinogram namespace: medical_genetics is_a: HP:0000654 ! Decreased electroretinogram (ERG) [Term] id: HP:0007637 name: Isolated ectopia lentis namespace: medical_genetics is_a: HP:0001083 ! Ectopia lentis [Term] id: HP:0007638 name: Slowly progressive macular dystrophy namespace: medical_genetics is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007639 name: Nystagmus, horizontal, gaze-evoked namespace: medical_genetics is_a: HP:0000666 ! Nystagmus, horizontal [Term] id: HP:0007640 name: Lifelong reduced visual acuity, legal blindness to low vision namespace: medical_genetics is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007641 name: Secondary dyschromatopsia namespace: medical_genetics is_a: HP:0000551 ! Abnormal color vision [Term] id: HP:0007642 name: Congenital stationary night blindness namespace: medical_genetics is_a: HP:0000662 ! Night blindness [Term] id: HP:0007643 name: Peripheral traction retinal detachment namespace: medical_genetics is_a: HP:0000541 ! Detached retina [Term] id: HP:0007644 name: Retinal 'bone corpuscle' pigmentation namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007645 name: Retinitis pigmentosa type i namespace: medical_genetics is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0007646 name: Absent lower eyelashes namespace: medical_genetics is_a: HP:0000561 ! Absent eyelashes [Term] id: HP:0007647 name: Congenital extraocular muscle anomaly namespace: medical_genetics is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0007648 name: Punctate lenticular opacities namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0007649 name: Congenital hypertrophy of retinal pigment epithelium namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007650 name: Progressive ophthalmoplegia namespace: medical_genetics is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007651 name: Mildly everted lower eyelids namespace: medical_genetics is_a: HP:0000656 ! Ectropion [Term] id: HP:0007652 name: Subacute deterioration of visual acuity namespace: medical_genetics is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007653 name: Difficulties with night vision namespace: medical_genetics is_a: HP:0000662 ! Night blindness [Term] id: HP:0007654 name: Retinal striation namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007655 name: Eversion of lateral third of lower eyelids namespace: medical_genetics is_a: HP:0000656 ! Ectropion [Term] id: HP:0007656 name: Lacrimal gland aplasia/hypoplasia namespace: medical_genetics is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands [Term] id: HP:0007657 name: Cataract, nuclear diffuse nonprogressive namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0007658 name: Large hyperpigmented retinal spots namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007659 name: Decreased retinal pigmentation with dispersion namespace: medical_genetics is_a: HP:0007703 ! Abnormal retinal pigmentation [Term] id: HP:0007660 name: Increased corneal diameter namespace: medical_genetics is_a: HP:0001120 ! Abnormality of corneal size or shape [Term] id: HP:0007661 name: Chorioretinal hypopigmentation and hyperpigmentation namespace: medical_genetics is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0007662 name: Corneal parenchymal opacities namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0007663 name: Decreased central vision namespace: medical_genetics is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007664 name: Clinical anophthalmia, unilateral/bilateral namespace: medical_genetics is_a: HP:0001485 ! Anophthalmia, clinical [Term] id: HP:0007665 name: Curly eyelashes namespace: medical_genetics is_a: HP:0000500 ! Long, curly eyelashes [Term] id: HP:0007666 name: Posterior subcapsular opacities of the lens namespace: medical_genetics is_a: HP:0001490 ! Subcapsular opacities [Term] id: HP:0007667 name: Cystic retinal degeneration namespace: medical_genetics is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007668 name: Impaired pursuit initiation and maintenance namespace: medical_genetics is_a: HP:0000617 ! Impaired smooth pursuit [Term] id: HP:0007669 name: Bilateral lacrimal duct obstruction namespace: medical_genetics is_a: HP:0000579 ! Nasolacrimal duct obstruction [Term] id: HP:0007670 name: Abnormal vestibuloocular reflex namespace: medical_genetics is_a: HP:0004454 ! abnormal middle ear reflexes [Term] id: HP:0007671 name: Disrupted ocular pursuit movements namespace: medical_genetics is_a: HP:0000617 ! Impaired smooth pursuit [Term] id: HP:0007672 name: Congenital nuclear cataract in males namespace: medical_genetics is_a: HP:0000519 ! Congenital cataract [Term] id: HP:0007673 name: Cystic macular degeneration namespace: medical_genetics is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0007674 name: Recurrent corneal ulceration namespace: medical_genetics is_a: HP:0000495 ! Corneal ulceration [Term] id: HP:0007675 name: Progressive night blindness namespace: medical_genetics is_a: HP:0000662 ! Night blindness [Term] id: HP:0007676 name: Hypoplasia of the iris namespace: medical_genetics alt_id: HP:0000638 alt_id: HP:0007998 synonym: "Hypoplastic iris" EXACT [] synonym: "Iris hypoplasia" EXACT [] is_a: HP:0008053 ! Aplasia/Hypoplasia of the iris [Term] id: HP:0007677 name: Vitelliform macular dystrophy namespace: medical_genetics is_a: HP:0007754 ! Macular dystrophy [Term] id: HP:0007678 name: Nasolacrimal duct stenosis namespace: medical_genetics is_a: HP:0000579 ! Nasolacrimal duct obstruction [Term] id: HP:0007680 name: Depigmented fundus namespace: medical_genetics is_a: HP:0001487 ! Hypopigmented fundi [Term] id: HP:0007681 name: High-arched, dense eyebrows namespace: medical_genetics is_a: HP:0001584 ! Highly arched eyebrows [Term] id: HP:0007682 name: Ophthalmoplegia, nonprogressive restrictive, bilateral or unilateral namespace: medical_genetics is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007683 name: Fundus with peripheral 'bony spicules' namespace: medical_genetics is_a: HP:0007823 ! Bone corpuscle fundus pigmentation [Term] id: HP:0007684 name: Congenital night blindness namespace: medical_genetics is_a: HP:0000662 ! Night blindness [Term] id: HP:0007685 name: Peripheral retinal avascularization namespace: medical_genetics is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007686 name: Abnormal pupillary function namespace: medical_genetics is_a: HP:0000615 ! Abnormality of the pupils [Term] id: HP:0007687 name: Ptosis, unilateral namespace: medical_genetics is_a: HP:0000508 ! Ptosis [Term] id: HP:0007688 name: Absent rod-and cone-mediated responses on ERG namespace: medical_genetics is_a: HP:0000512 ! Abnormal electroretinogram (ERG) [Term] id: HP:0007689 name: Reduced or abolished electroretinogram namespace: medical_genetics is_a: HP:0000654 ! Decreased electroretinogram (ERG) [Term] id: HP:0007690 name: Map-dot-fingerprint corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007691 name: Short curly eyelashes namespace: medical_genetics is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0007692 name: Nonnuclear polymorphic congenital cataract namespace: medical_genetics is_a: HP:0000519 ! Congenital cataract [Term] id: HP:0007693 name: Gradual progressive loss of central visual acuity namespace: medical_genetics is_a: HP:0007663 ! Decreased central vision [Term] id: HP:0007694 name: Pigmented macular degeneration namespace: medical_genetics is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0007695 name: Abnormal pupillary light reflexes namespace: medical_genetics is_a: HP:0000615 ! Abnormality of the pupils [Term] id: HP:0007696 name: Anterior segment ocular dysgenesis namespace: medical_genetics is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0007697 name: Hypoplastic lower eyelids namespace: medical_genetics is_a: HP:0000492 ! Abnormality of the eyelid [Term] id: HP:0007698 name: Retinal pigment epithelial atrophy namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007699 name: Anterior chamber malformation namespace: medical_genetics is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0007700 name: Anterior chamber cleavage disorder namespace: medical_genetics synonym: "Anterior chamber cleavage defect" EXACT [] is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0007702 name: Pigmentary retinal deposits namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007703 name: Abnormal retinal pigmentation namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007704 name: Abnormal eye movements, paroxysmal namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007705 name: Corneal degeneration namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0007707 name: Congenital primary aphakia namespace: medical_genetics is_a: HP:0008063 ! Aplasia/Hypoplasia of the lens [Term] id: HP:0007708 name: Absent inner eyelashes namespace: medical_genetics is_a: HP:0000561 ! Absent eyelashes [Term] id: HP:0007709 name: Band-shaped corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007710 name: Peripheral vitreous opacities namespace: medical_genetics is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0007711 name: Slightly prominent eyes namespace: medical_genetics is_a: HP:0000536 ! Prominent eyes [Term] id: HP:0007712 name: Choroidal dystrophy namespace: medical_genetics is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0007713 name: Juvenile zonular cataracts namespace: medical_genetics is_a: HP:0001118 ! Juvenile cataracts [Term] id: HP:0007714 name: Small, downslanting palpebral fissures namespace: medical_genetics is_a: HP:0000494 ! Downward slanting palpebral fissures [Term] id: HP:0007715 name: Weak extraocular muscles namespace: medical_genetics is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0007716 name: Malignant intraocular melanoma namespace: medical_genetics def: "A malignant melanoma originating within the eye. The tumor originates from the melanocytes in the uvea (which comprises the iris, ciliary body, and choroid)." [HPO:curators] synonym: "Uveal melanoma" EXACT [] is_a: HP:0002861 ! Malignant melanoma [Term] id: HP:0007717 name: Chronic irritative conjunctivitis namespace: medical_genetics is_a: HP:0000509 ! Conjunctivitis [Term] id: HP:0007718 name: 'key-hole' iris, retina, choroid coloboma namespace: medical_genetics is_a: HP:0000611 ! Choroid coloboma [Term] id: HP:0007720 name: Congenital cornea plana namespace: medical_genetics is_a: HP:0001120 ! Abnormality of corneal size or shape [Term] id: HP:0007721 name: Saccular conjunctival aneurysms namespace: medical_genetics is_a: HP:0008054 ! Abnormality of the vasculature of the conjunctiva [Term] id: HP:0007722 name: Loss of retinal pigment epithelium namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007723 name: Blurred vision, episodic namespace: medical_genetics is_a: HP:0000622 ! Blurred vision [Term] id: HP:0007724 name: Iris atrophy/hypoplasia namespace: medical_genetics is_a: HP:0001089 ! Iris atrophy [Term] id: HP:0007725 name: Mild night blindness namespace: medical_genetics is_a: HP:0000662 ! Night blindness [Term] id: HP:0007726 name: Congenital cataracts, bilateral namespace: medical_genetics alt_id: HP:0007788 def: "Bilateral congenital cataracts (opacity or clouding of the lenses)." [HPO:curators] synonym: "Bilateral congenital cataracts" EXACT [] is_a: HP:0000519 ! Congenital cataract [Term] id: HP:0007727 name: Superficial corneal opacities namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0007728 name: Congenital miosis namespace: medical_genetics is_a: HP:0000616 ! Miosis [Term] id: HP:0007729 name: Imperforate nasolacrimal ducts namespace: medical_genetics is_a: HP:0000564 ! Lacrimal duct atresia [Term] id: HP:0007730 name: Reduced iris pigmentation namespace: medical_genetics is_a: HP:0008034 ! Abnormal iris pigmentation [Term] id: HP:0007731 name: Chorioretinal dysplasia namespace: medical_genetics is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0007732 name: Hypoplastic lacrimal gland namespace: medical_genetics is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands [Term] id: HP:0007733 name: Laterally curved eyebrows namespace: medical_genetics is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0007734 name: Enlarged lacrimal glands namespace: medical_genetics is_a: HP:0000521 ! Abnormality of tear glands or tear production [Term] id: HP:0007735 name: Relatively rapid loss of visual acuity namespace: medical_genetics is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007736 name: Pericentral retinal dystrophy namespace: medical_genetics is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007737 name: Bony spicule pigmentary retinopathy namespace: medical_genetics is_a: HP:0000580 ! Pigmentary retinopathy [Term] id: HP:0007738 name: Uncontrolled eye movements namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007739 name: Mildly reduced visual acuity namespace: medical_genetics is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007740 name: Long eyelashes in irregular rows namespace: medical_genetics is_a: HP:0000527 ! Long eyelashes [Term] id: HP:0007741 name: Peripheral retinal pigmentation abnormalities namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007742 name: Early-onset retinitis pigmentosa namespace: medical_genetics is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0007743 name: Retinal pigmentary anomaly namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007744 name: Coloboma of iris and retina namespace: medical_genetics is_a: HP:0000612 ! Iris coloboma [Term] id: HP:0007745 name: Ocular albinism, tyrosinase-positive namespace: medical_genetics is_a: HP:0001107 ! Ocular albinism [Term] id: HP:0007746 name: Retinal hypopigmentation namespace: medical_genetics is_a: HP:0001111 ! Retinal depigmentation [Term] id: HP:0007747 name: Monocular horizontal nystagmus namespace: medical_genetics is_a: HP:0000666 ! Nystagmus, horizontal [Term] id: HP:0007748 name: Coloboma of iris, choroid and retina namespace: medical_genetics is_a: HP:0000612 ! Iris coloboma [Term] id: HP:0007749 name: Epithelial corneal erosions namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0007750 name: Foveal hypoplasia namespace: medical_genetics is_a: HP:0008060 ! Aplasia/Hypoplasia of the fovea [Term] id: HP:0007751 name: Optic-nerve degeneration namespace: medical_genetics is_a: HP:0000587 ! Abnormality of the optic nerve [Term] id: HP:0007752 name: Decreased retinal pigmentation namespace: medical_genetics is_a: HP:0001111 ! Retinal depigmentation [Term] id: HP:0007753 name: Slowly progressive visual loss namespace: medical_genetics is_a: HP:0000529 ! Progressive visual loss [Term] id: HP:0007754 name: Macular dystrophy namespace: medical_genetics is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007755 name: Juvenile epithelial corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007756 name: Slitlike anterior chamber angles in children namespace: medical_genetics is_a: HP:0000594 ! Shallow anterior chamber [Term] id: HP:0007757 name: Hypoplasia of choroid namespace: medical_genetics is_a: HP:0001122 ! Aplasia/Hypoplasia of the choroid [Term] id: HP:0007758 name: Congenital visual impairment namespace: medical_genetics is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007759 name: Corneal opacities, not impairing visual acuity namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0007760 name: Crystalline corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007761 name: Pericentral scotomas namespace: medical_genetics is_a: HP:0000603 ! Central scotoma [Term] id: HP:0007762 name: Ophthalmoplegia predominantly affects upward and lateral gaze namespace: medical_genetics is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007763 name: Retinal telangiectasia namespace: medical_genetics is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007764 name: Defective or absent horizontal voluntary eye movements namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007765 name: Deep anterior chamber namespace: medical_genetics is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0007766 name: Hypoplastic optic disks namespace: medical_genetics alt_id: HP:0007794 synonym: "Optic disc hypoplasia" EXACT [] is_a: HP:0008058 ! Aplasia/Hypoplasia of the optic nerve [Term] id: HP:0007768 name: Central retinal vessel vascular tortuosity namespace: medical_genetics is_a: HP:0000631 ! Retinal arterial tortuosity [Term] id: HP:0007769 name: Peripheral retinal degeneration namespace: medical_genetics is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007770 name: Retinal hypoplasia namespace: medical_genetics is_a: HP:0008061 ! Aplasia/Hypoplasia affecting the retina [Term] id: HP:0007771 name: Fibrous dysplasia of the cornea namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0007772 name: Impaired smooth pursuit in adult patients namespace: medical_genetics is_a: HP:0000617 ! Impaired smooth pursuit [Term] id: HP:0007773 name: Vitreoretinal abnormalities namespace: medical_genetics is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0007774 name: Hypoplasia of the ciliary body namespace: medical_genetics is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea [Term] id: HP:0007775 name: Nonprogressive corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007776 name: Partial absence of lower eyelashes namespace: medical_genetics is_a: HP:0002284 ! Sparse to absent eyelashes [Term] id: HP:0007777 name: Chorioretinal scars namespace: medical_genetics is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0007778 name: Neovascularization of peripheral and posterior retina namespace: medical_genetics is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007779 name: Anterior segment of eye aplasia namespace: medical_genetics is_a: HP:0004328 ! Abnormality of the anterior segment of the eye [Term] id: HP:0007780 name: Cataracts, cortical pulverulent, juvenile-onset namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0007781 name: Congenital nuclear cataract namespace: medical_genetics is_a: HP:0000519 ! Congenital cataract [Term] id: HP:0007782 name: Peripheral retinal cone degeneration namespace: medical_genetics is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007783 name: Butterfly retinal pigment epithelial dystrophy namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007784 name: Colobomas of optic disk, choroid, ciliary body, and iris namespace: medical_genetics is_a: HP:0000611 ! Choroid coloboma [Term] id: HP:0007785 name: Partial-total absence of lower eyelashes namespace: medical_genetics is_a: HP:0002284 ! Sparse to absent eyelashes [Term] id: HP:0007786 name: Lacunar retinal depigmentation namespace: medical_genetics is_a: HP:0001111 ! Retinal depigmentation [Term] id: HP:0007787 name: Posterior subcapsular cataracts namespace: medical_genetics is_a: HP:0000523 ! Subcapsular cataracts [Term] id: HP:0007789 name: Progressive cone dystrophy namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007790 name: Retinal degeneration in adult patients, progressive namespace: medical_genetics is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007791 name: Patchy atrophy of the retinal pigment epithelium namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007792 name: Microsaccadic pursuit namespace: medical_genetics is_a: HP:0000530 ! Saccadic slow pursuit [Term] id: HP:0007793 name: Bilateral macular retinal pigment epithelial mottling namespace: medical_genetics is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007795 name: Anterior cortical cataracts namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0007796 name: Underorbital skin creases namespace: medical_genetics is_a: HP:0000606 ! Abnormality of the periorbital region [Term] id: HP:0007797 name: Retinal vascular malformations namespace: medical_genetics is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007798 name: Bilateral foveal dystrophy namespace: medical_genetics is_a: HP:0000493 ! Abnormality of the fovea [Term] id: HP:0007799 name: Conjunctival whitish 'salt-like' deposits namespace: medical_genetics is_a: HP:0000502 ! Abnormality of the conjunctiva [Term] id: HP:0007800 name: Increased axial globe length namespace: medical_genetics is_a: HP:0000489 ! Abnormality of globe location or size [Term] id: HP:0007801 name: Fishnet retinal pigmentation namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007802 name: Granular corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007803 name: Congenital complete achromatopsia namespace: medical_genetics is_a: HP:0000551 ! Abnormal color vision [Term] id: HP:0007804 name: Heavy arched eyebrows namespace: medical_genetics is_a: HP:0001584 ! Highly arched eyebrows [Term] id: HP:0007805 name: Striking peripheral retinal degeneration namespace: medical_genetics is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007806 name: Sarcoid-associated optic neuropathy namespace: medical_genetics is_a: HP:0001138 ! Optic neuropathy [Term] id: HP:0007807 name: Optic nerve compression namespace: medical_genetics is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0001293 ! Cranial nerve compression [Term] id: HP:0007808 name: Bilateral retinal coloboma namespace: medical_genetics is_a: HP:0000480 ! Retinal coloboma [Term] id: HP:0007809 name: Punctate corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007810 name: Progressive bifocal chorioretinal atrophy namespace: medical_genetics is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007811 name: Horizontal pendular nystagmus namespace: medical_genetics is_a: HP:0000666 ! Nystagmus, horizontal [Term] id: HP:0007812 name: Herpetiform corneal ulcers namespace: medical_genetics is_a: HP:0000495 ! Corneal ulceration [Term] id: HP:0007813 name: Nongranulomatous uveitis namespace: medical_genetics is_a: HP:0000554 ! Uveitis [Term] id: HP:0007814 name: Salt and pepper retinopathy, early namespace: medical_genetics is_a: HP:0001124 ! Salt and pepper retinal pigmentation [Term] id: HP:0007815 name: Abnormal distribution of retinal arterioles and venules namespace: medical_genetics is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007816 name: Late-onset retinitis pigmentosa namespace: medical_genetics is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0007817 name: Supranuclear gaze palsy, horizontal namespace: medical_genetics is_a: HP:0000605 ! Supranuclear gaze palsy [Term] id: HP:0007818 name: Ring iris heterochromia namespace: medical_genetics is_a: HP:0001100 ! Heterochromia iridis [Term] id: HP:0007819 name: Presenile cataracts namespace: medical_genetics alt_id: HP:0007848 synonym: "Presenile cataract" EXACT [] is_a: HP:0000518 ! Cataract [Term] id: HP:0007820 name: Atretic lacrimal puncta namespace: medical_genetics is_a: HP:0001092 ! Absent lacrimal puncta [Term] id: HP:0007821 name: Retinal pigment clumping namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007822 name: Central retinal exudate namespace: medical_genetics is_a: HP:0001147 ! Retinal exudates [Term] id: HP:0007823 name: Bone corpuscle fundus pigmentation namespace: medical_genetics is_a: HP:0001098 ! Abnormality of the fundus [Term] id: HP:0007824 name: Total ophthalmoplegia namespace: medical_genetics is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007825 name: Cataracts develop in second or third decade namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0007826 name: Atypical retinitis pigmentosa namespace: medical_genetics is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0007827 name: Nodular corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007828 name: Cataract, progressive, juvenile-onset namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0007829 name: Diffuse retinal cone degeneration namespace: medical_genetics is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007830 name: Night blindness beginning in the 6th decade namespace: medical_genetics is_a: HP:0000662 ! Night blindness [Term] id: HP:0007831 name: Nonprogressive restrictive ophthalmoplegia namespace: medical_genetics is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007832 name: Pigmentation of the sclera namespace: medical_genetics is_a: HP:0000591 ! Abnormality of the sclera [Term] id: HP:0007833 name: Anterior chamber synechiae namespace: medical_genetics is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0007834 name: Progressive cataracts namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0007835 name: S-shaped palpebral fissures namespace: medical_genetics is_a: HP:0008050 ! Abnormality of the palpebral fissures [Term] id: HP:0007836 name: Mosaic corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007837 name: Ocular albinism, females as affected as males namespace: medical_genetics is_a: HP:0001107 ! Ocular albinism [Term] id: HP:0007838 name: Ptosis, progressive namespace: medical_genetics is_a: HP:0000508 ! Ptosis [Term] id: HP:0007839 name: Blindness in infancy or very early childhood namespace: medical_genetics is_a: HP:0000618 ! Blindness [Term] id: HP:0007840 name: Long, curly dark upper eyelashes namespace: medical_genetics is_a: HP:0000500 ! Long, curly eyelashes [Term] id: HP:0007841 name: Amyloid deposition in the vitreous humor namespace: medical_genetics is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0007843 name: Attenuation of retinal blood vessels namespace: medical_genetics is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007844 name: Anterior corneal lens opacities namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0007845 name: Flattened or absent electroretinogram namespace: medical_genetics is_a: HP:0000654 ! Decreased electroretinogram (ERG) [Term] id: HP:0007846 name: Restrictive ophthalmoplegia namespace: medical_genetics is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007847 name: Severe degenerative myopia namespace: medical_genetics is_a: HP:0000545 ! Myopia [Term] id: HP:0007849 name: Congenital retinal non-attachment namespace: medical_genetics is_a: HP:0000541 ! Detached retina [Term] id: HP:0007850 name: Retinal vascular proliferation namespace: medical_genetics is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007851 name: Temporal displacement of maculae namespace: medical_genetics is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007852 name: Pericentral pigmentary retinopathy namespace: medical_genetics is_a: HP:0000580 ! Pigmentary retinopathy [Term] id: HP:0007853 name: Scant eyelashes namespace: medical_genetics synonym: "Scanty eyelashes" EXACT [] is_a: HP:0004555 ! absent or scanty eyelashes and eyebrows [Term] id: HP:0007854 name: Glaucomatous visual field defects namespace: medical_genetics is_a: HP:0001123 ! Visual field defects [Term] id: HP:0007855 name: Optic atrophy, congenital namespace: medical_genetics is_a: HP:0000648 ! Optic atrophy [Term] id: HP:0007856 name: Fine punctate corneal opacities namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0007857 name: Posterior subcapsular cataracts in some cases namespace: medical_genetics is_a: HP:0000523 ! Subcapsular cataracts [Term] id: HP:0007858 name: Chorioretinal lacunae namespace: medical_genetics is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0007859 name: Congenital horizontal nystagmus namespace: medical_genetics is_a: HP:0000666 ! Nystagmus, horizontal [Term] id: HP:0007860 name: Subnormal visual acuity namespace: medical_genetics is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007861 name: Autosomal dominant congenital stationary night blindness namespace: medical_genetics is_a: HP:0000662 ! Night blindness [Term] id: HP:0007862 name: Retinal calcification namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007863 name: Multiple retinal holes namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007864 name: Congenital retinal detachment namespace: medical_genetics is_a: HP:0000541 ! Detached retina [Term] id: HP:0007865 name: Early onset night blindness and abnormal fundus namespace: medical_genetics is_a: HP:0000662 ! Night blindness [Term] id: HP:0007866 name: Focal retinal infarction namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007867 name: Restrictive partial ophthalmoplegia namespace: medical_genetics is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007868 name: Senile macular degeneration namespace: medical_genetics is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0007869 name: Peripheral retinopathy namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007870 name: Prominent globes namespace: medical_genetics is_a: HP:0001090 ! Large eyes [Term] id: HP:0007871 name: Marked hypertelorism namespace: medical_genetics is_a: HP:0000316 ! Hypertelorism [Term] id: HP:0007872 name: Choroidal hemangiomata namespace: medical_genetics is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0007873 name: Abnormally prominent line of Schwalbe namespace: medical_genetics alt_id: HP:0007940 synonym: "Prominent Schwalbe lines" EXACT [] is_a: HP:0008048 ! Abnormality of the line of Schwalbe [Term] id: HP:0007874 name: Almond-shaped palpebral fissures namespace: medical_genetics is_a: HP:0008050 ! Abnormality of the palpebral fissures [Term] id: HP:0007875 name: Congenital blindness namespace: medical_genetics alt_id: HP:0007706 synonym: "Congenital amaurosis" EXACT [] is_a: HP:0000618 ! Blindness [Term] id: HP:0007876 name: Juvenile cortical cataract namespace: medical_genetics is_a: HP:0001118 ! Juvenile cataracts [Term] id: HP:0007878 name: Atypical vitelliform macular dystrophy namespace: medical_genetics is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007879 name: Allergic conjunctivitis namespace: medical_genetics is_a: HP:0000509 ! Conjunctivitis [Term] id: HP:0007880 name: Marginal corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007881 name: Central corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007882 name: Congenital lens dislocation namespace: medical_genetics is_a: HP:0000665 ! Lens dislocation [Term] id: HP:0007883 name: White corneal opacification namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0007884 name: Choroidal vessel sclerosis namespace: medical_genetics is_a: HP:0001150 ! Choroidal sclerosis [Term] id: HP:0007885 name: Slowed horizontal saccades namespace: medical_genetics is_a: HP:0001151 ! Impaired horizontal smooth pursuit [Term] id: HP:0007886 name: Absent ocular muscles namespace: medical_genetics is_a: HP:0008049 ! Abnormality of the extraocular muscles [Term] id: HP:0007888 name: Bilateral chorioretinopathy namespace: medical_genetics is_a: HP:0001145 ! Chorioretinopathy [Term] id: HP:0007889 name: Cataracts, posterior, subcapsular, iridescent namespace: medical_genetics is_a: HP:0000523 ! Subcapsular cataracts [Term] id: HP:0007890 name: Hypoplastic optic discs with double margin namespace: medical_genetics is_a: HP:0007766 ! Hypoplastic optic disks [Term] id: HP:0007891 name: Prominent ocular inflammation namespace: medical_genetics is_a: HP:0000478 ! Eye abnormality [Term] id: HP:0007892 name: Aplastic/hypoplastic lacrimal puncta namespace: medical_genetics is_a: HP:0001092 ! Absent lacrimal puncta [Term] id: HP:0007893 name: Progressive retinal degeneration namespace: medical_genetics is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007894 name: Hypopigmentation of the fundus namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007895 name: Night blindness, in some female carriers namespace: medical_genetics is_a: HP:0000662 ! Night blindness [Term] id: HP:0007896 name: Corneal opacities on slit-lamp exam namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0007897 name: Jerky smooth pursuit namespace: medical_genetics is_a: HP:0000617 ! Impaired smooth pursuit [Term] id: HP:0007898 name: Exudative retinopathy namespace: medical_genetics is_a: HP:0001147 ! Retinal exudates [Term] id: HP:0007899 name: Retinal nonattachment namespace: medical_genetics is_a: HP:0000541 ! Detached retina [Term] id: HP:0007900 name: Hypoplastic lacrimal duct namespace: medical_genetics is_a: HP:0000614 ! Lacrimal duct abnormalities [Term] id: HP:0007901 name: Retinal malformation namespace: medical_genetics alt_id: HP:0007938 synonym: "Retinal malformations" EXACT [] is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007902 name: Vitreous hemorrhage namespace: medical_genetics is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0007903 name: Pigmented paravenous chorioretinal atrophy namespace: medical_genetics is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007904 name: Large palpebral fissures namespace: medical_genetics is_a: HP:0000637 ! Wide palpebral fissures [Term] id: HP:0007905 name: Abnormal iris vasculature namespace: medical_genetics is_a: HP:0000525 ! Abnormality of the iris [Term] id: HP:0007906 name: Increased intraocular pressure namespace: medical_genetics is_a: HP:0000501 ! Glaucoma [Term] id: HP:0007907 name: Blepharospasm may occur namespace: medical_genetics is_a: HP:0000643 ! Blepharospasm [Term] id: HP:0007908 name: Mild antimongoloid slant namespace: medical_genetics is_a: HP:0000494 ! Downward slanting palpebral fissures [Term] id: HP:0007909 name: Coloboma of upper and lower eyelids namespace: medical_genetics is_a: HP:0000636 ! Upper eyelid coloboma is_a: HP:0000652 ! Lower eyelid coloboma [Term] id: HP:0007910 name: Retinal dystrophy, congenital, nonprogressive namespace: medical_genetics is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007911 name: Congenital bilateral ptosis namespace: medical_genetics alt_id: HP:0007719 alt_id: HP:0007955 synonym: "Ptosis, bilateral congenital" EXACT [] synonym: "Ptosis, congenital bilateral" EXACT [] is_a: HP:0001488 ! Bilateral ptosis is_a: HP:0007970 ! Congenital ptosis [Term] id: HP:0007913 name: Reticular retinal dystrophy namespace: medical_genetics is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007914 name: Progressive macular dystrophy namespace: medical_genetics is_a: HP:0007754 ! Macular dystrophy [Term] id: HP:0007915 name: Polymorphous posterior corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007916 name: Small anterior lens surface opacities namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0007917 name: Tractional retinal detachment namespace: medical_genetics is_a: HP:0000541 ! Detached retina [Term] id: HP:0007918 name: Progressive chorioretinal degeneration namespace: medical_genetics is_a: HP:0000532 ! Chorioretinal abnormality [Term] id: HP:0007919 name: Progressive foveal dystrophy namespace: medical_genetics is_a: HP:0000493 ! Abnormality of the fovea [Term] id: HP:0007920 name: Congenital chorioretinal dystrophy namespace: medical_genetics is_a: HP:0001135 ! Chorioretinal dystrophy [Term] id: HP:0007921 name: Vestibular dysfunction, variable namespace: medical_genetics is_a: HP:0001751 ! Vestibular dysfunction [Term] id: HP:0007922 name: Hypermyelinated retinal fibers namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007923 name: Foveal hyperplasia namespace: medical_genetics is_a: HP:0000493 ! Abnormality of the fovea [Term] id: HP:0007924 name: Slow decrease in visual acuity namespace: medical_genetics is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007925 name: Lacrimal duct aplasia or stenosis namespace: medical_genetics is_a: HP:0000614 ! Lacrimal duct abnormalities [Term] id: HP:0007926 name: Eyelids, eyebrows, and eyelashes absent namespace: medical_genetics is_a: HP:0002288 ! Absent eyebrows and eyelashes [Term] id: HP:0007927 name: Adult-onset retinitis pigmentosa namespace: medical_genetics is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0007928 name: Abnormal flash visual evoked potentials namespace: medical_genetics is_a: HP:0000649 ! Abnormality of vision evoked potentials [Term] id: HP:0007929 name: Peripheral retinal detachment namespace: medical_genetics is_a: HP:0000541 ! Detached retina [Term] id: HP:0007930 name: Prominent epicanthal folds namespace: medical_genetics is_a: HP:0000286 ! Epicanthal folds [Term] id: HP:0007931 name: Chorioretinal thinning namespace: medical_genetics is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007932 name: Bilateral congenital mydriasis namespace: medical_genetics is_a: HP:0000615 ! Abnormality of the pupils [Term] id: HP:0007933 name: Broad lateral eyebrows namespace: medical_genetics is_a: HP:0000534 ! Abnormality of the eyebrow [Term] id: HP:0007934 name: Progressive pigmentary retinal degeneration namespace: medical_genetics is_a: HP:0001146 ! Pigmentary retinal degeneration [Term] id: HP:0007935 name: Juvenile posterior subcapsular lenticular opacities namespace: medical_genetics is_a: HP:0001490 ! Subcapsular opacities [Term] id: HP:0007936 name: Restrictive external ophthalmoplegia namespace: medical_genetics is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0007937 name: Honeycomb retinal degeneration namespace: medical_genetics is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007939 name: Almost complete colorblindness except ability to see blue namespace: medical_genetics is_a: HP:0000551 ! Abnormal color vision [Term] id: HP:0007941 name: Limited extraocular movements namespace: medical_genetics synonym: "Limited extraocular movement" EXACT [] is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007942 name: Internal ophthalmoplegia namespace: medical_genetics is_a: HP:0000602 ! Ophthalmoplegia [Term] id: HP:0007943 name: Congenital stapes ankylosis namespace: medical_genetics is_a: HP:0000381 ! Stapes ankylosis [Term] id: HP:0007944 name: Intermittent microsaccadic pursuits namespace: medical_genetics is_a: HP:0001152 ! Saccadic smooth pursuit [Term] id: HP:0007945 name: Choroidal degeneration namespace: medical_genetics alt_id: HP:0007912 synonym: "Choroidoretinal degeneration" EXACT [] is_a: HP:0000610 ! Abnormality of the choroid [Term] id: HP:0007946 name: Narrow palpebral fissure, unilateral namespace: medical_genetics is_a: HP:0000513 ! Narrow palpebral fissures [Term] id: HP:0007947 name: Pericentral retinitis pigmentosa namespace: medical_genetics is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0007948 name: Dense, posterior cortical cataract namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0007949 name: Progressive macular scarring namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007950 name: Peripapillary chorioretinal atrophy namespace: medical_genetics is_a: HP:0000533 ! Chorioretinal atrophy [Term] id: HP:0007952 name: Contracted retinal arteries namespace: medical_genetics is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0007953 name: Complete congenital stationary night blindness namespace: medical_genetics is_a: HP:0000662 ! Night blindness [Term] id: HP:0007954 name: Poor color discrimination namespace: medical_genetics is_a: HP:0000551 ! Abnormal color vision [Term] id: HP:0007956 name: Bilateral choroid coloboma namespace: medical_genetics is_a: HP:0000611 ! Choroid coloboma [Term] id: HP:0007957 name: Variable degree of corneal opacities namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0007958 name: Optic atrophy from cranial nerve compression namespace: medical_genetics is_a: HP:0000648 ! Optic atrophy is_a: HP:0001293 ! Cranial nerve compression [Term] id: HP:0007959 name: Severe limitations of eye movements namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement [Term] id: HP:0007960 name: Dyschromatopsia with red-green confusion namespace: medical_genetics is_a: HP:0000642 ! Red-green dyschromatopsia [Term] id: HP:0007961 name: Rarefaction of retinal pigmentation namespace: medical_genetics is_a: HP:0001111 ! Retinal depigmentation [Term] id: HP:0007962 name: Speckled corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0007963 name: Macroreticular retinal dystrophy namespace: medical_genetics is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007964 name: Degenerative vitreoretinopathy namespace: medical_genetics is_a: HP:0007773 ! Vitreoretinal abnormalities [Term] id: HP:0007965 name: Absence of visual evoked potentials namespace: medical_genetics is_a: HP:0000649 ! Abnormality of vision evoked potentials [Term] id: HP:0007966 name: Hereditary childhood corneal clouding namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0007967 name: Visual loss, progressive namespace: medical_genetics is_a: HP:0000572 ! Visual loss [Term] id: HP:0007968 name: Persistent hyperplasia of primary vitreous namespace: medical_genetics synonym: "Persistent hypertrophic primary vitreous" EXACT [] is_a: HP:0004327 ! Abnormality of the vitreous humor [Term] id: HP:0007969 name: Central visual loss early namespace: medical_genetics is_a: HP:0001091 ! Central visual loss [Term] id: HP:0007970 name: Congenital ptosis namespace: medical_genetics is_a: HP:0000508 ! Ptosis [Term] id: HP:0007971 name: Congenital lamellar cataracts namespace: medical_genetics is_a: HP:0000519 ! Congenital cataract [Term] id: HP:0007972 name: Ribbonlike corneal degeneration namespace: medical_genetics is_a: HP:0007705 ! Corneal degeneration [Term] id: HP:0007973 name: Retinal dysplasia namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0007974 name: Severe retinal dystrophy namespace: medical_genetics is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007975 name: Hypometric horizontal saccades namespace: medical_genetics is_a: HP:0000571 ! Hypometric saccades [Term] id: HP:0007976 name: Cataracts, congenital, cerulean namespace: medical_genetics is_a: HP:0000519 ! Congenital cataract [Term] id: HP:0007977 name: Aplasia or malposition of lacrimal puncta namespace: medical_genetics is_a: HP:0001092 ! Absent lacrimal puncta [Term] id: HP:0007978 name: Subcapsular lenticular cataracts namespace: medical_genetics is_a: HP:0000523 ! Subcapsular cataracts [Term] id: HP:0007979 name: Gaze-evoked horizontal nystagmus namespace: medical_genetics is_a: HP:0000640 ! Gaze-evoked nystagmus [Term] id: HP:0007980 name: Absent retinal pigment epithelium namespace: medical_genetics is_a: HP:0008051 ! Abnormality of the retinal pigment epithelium [Term] id: HP:0007981 name: Concentric narrowing of visual fields namespace: medical_genetics is_a: HP:0001133 ! Constricted visual fields [Term] id: HP:0007982 name: Central tapetoretinal dystrophy namespace: medical_genetics is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0007983 name: Reduced visual acuity by age 3 years namespace: medical_genetics is_a: HP:0000505 ! Impaired vision [Term] id: HP:0007984 name: Electroretinogram shows a reduced b-wave in most cases namespace: medical_genetics is_a: HP:0000512 ! Abnormal electroretinogram (ERG) [Term] id: HP:0007985 name: Retinal arteriolar narrowing and occlusion namespace: medical_genetics is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0007986 name: Increased retinal vascularity namespace: medical_genetics is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0007987 name: Progressive visual field defects namespace: medical_genetics is_a: HP:0001123 ! Visual field defects [Term] id: HP:0007988 name: Macular pallor with prominence of fovea centralis namespace: medical_genetics is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0007989 name: Subretinal and intraretinal exudates namespace: medical_genetics is_a: HP:0001147 ! Retinal exudates [Term] id: HP:0007990 name: Hypoplastic iris stroma namespace: medical_genetics alt_id: HP:0007991 alt_id: HP:0008027 synonym: "Hypoplastic iris stoma" EXACT [] synonym: "Iris stromal hypoplasia" EXACT [] is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0007992 name: Lattice retinal degeneration namespace: medical_genetics is_a: HP:0000546 ! Retinal degeneration [Term] id: HP:0007993 name: Absent or malformed lacrimal ducts namespace: medical_genetics is_a: HP:0008038 ! Aplastic/hypoplastic lacrimal glands [Term] id: HP:0007994 name: Peripheral visual field loss namespace: medical_genetics is_a: HP:0001123 ! Visual field defects [Term] id: HP:0007995 name: Ocular coloboma namespace: medical_genetics alt_id: HP:0007767 synonym: "Ocular colobomas" EXACT [] is_a: HP:0000589 ! Coloboma [Term] id: HP:0007996 name: Microphthalmia, extreme namespace: medical_genetics def: "A developmental anomaly characterized by extreme smallness of one or both eyes." [HPO:curators] is_a: HP:0000568 ! Microphthalmos [Term] id: HP:0007997 name: Bilateral coloboma of optic nerve namespace: medical_genetics is_a: HP:0000588 ! Optic nerve coloboma [Term] id: HP:0007999 name: Progressive juvenile macular dystrophy namespace: medical_genetics is_a: HP:0007754 ! Macular dystrophy [Term] id: HP:0008000 name: Decreased corneal reflex namespace: medical_genetics is_a: HP:0000481 ! Abnormality of the cornea [Term] id: HP:0008001 name: Foveal hyperpigmentation namespace: medical_genetics is_a: HP:0000493 ! Abnormality of the fovea [Term] id: HP:0008002 name: Macular pigmentary changes namespace: medical_genetics is_a: HP:0001103 ! Abnormality of the macula [Term] id: HP:0008003 name: Jerky ocular pursuit movements namespace: medical_genetics is_a: HP:0000617 ! Impaired smooth pursuit [Term] id: HP:0008004 name: Minute, gray, punctate corneal opacities namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0008005 name: Congenital corneal dystrophy namespace: medical_genetics is_a: HP:0001131 ! Corneal dystrophy [Term] id: HP:0008006 name: Abnormal smooth pursuits namespace: medical_genetics is_a: HP:0000617 ! Impaired smooth pursuit [Term] id: HP:0008007 name: Primary congenital glaucoma namespace: medical_genetics is_a: HP:0001087 ! Congenital glaucoma [Term] id: HP:0008008 name: Progressive central vision loss namespace: medical_genetics is_a: HP:0000529 ! Progressive visual loss [Term] id: HP:0008009 name: Three rows of eyelashes namespace: medical_genetics is_a: HP:0008496 ! Multiple rows of eyelashes [Term] id: HP:0008010 name: Posterior pattern of retinal pigment clumping namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0008011 name: Peripheral corneal opacities namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0008012 name: Myopia, congenital namespace: medical_genetics is_a: HP:0000545 ! Myopia [Term] id: HP:0008013 name: Congenital retinal folds namespace: medical_genetics is_a: HP:0008052 ! Abnormal retinal folds [Term] id: HP:0008014 name: Central fundal arteriolar microaneurysms namespace: medical_genetics is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0008015 name: Tortuosity of main retinal vessels namespace: medical_genetics is_a: HP:0008046 ! Abnormality of the retinal vasculature [Term] id: HP:0008016 name: Uncomplicated ectopia lentis namespace: medical_genetics is_a: HP:0001083 ! Ectopia lentis [Term] id: HP:0008017 name: Depigmented lesions of the retinal pigment epithelium namespace: medical_genetics is_a: HP:0001111 ! Retinal depigmentation [Term] id: HP:0008019 name: Upward lens dislocation namespace: medical_genetics is_a: HP:0000665 ! Lens dislocation [Term] id: HP:0008020 name: Progressive cone degeneration namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0008021 name: Partial-total retinal detachment namespace: medical_genetics is_a: HP:0000541 ! Detached retina [Term] id: HP:0008022 name: Retinal dysgenesis namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina [Term] id: HP:0008023 name: Severe visual impairment in males namespace: medical_genetics is_a: HP:0001141 ! Severe visual impairment [Term] id: HP:0008024 name: Bilateral nuclear cataract namespace: medical_genetics is_a: HP:0001108 ! Bilateral cataracts [Term] id: HP:0008025 name: Restrictive external opthalmoplegia, bilateral namespace: medical_genetics is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0008026 name: Horizontal opticokinetic nystagmus namespace: medical_genetics is_a: HP:0000666 ! Nystagmus, horizontal [Term] id: HP:0008028 name: Cystoid macular degeneration namespace: medical_genetics is_a: HP:0000608 ! Macular degeneration [Term] id: HP:0008029 name: Abnormal visual pursuit namespace: medical_genetics is_a: HP:0000570 ! Abnormality of saccadic eye movements [Term] id: HP:0008030 name: Retinal arteritis namespace: medical_genetics is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0008031 name: Posterior Y-sutural cataracts namespace: medical_genetics is_a: HP:0000518 ! Cataract [Term] id: HP:0008032 name: Isolated cryptophthalmos namespace: medical_genetics is_a: HP:0001126 ! Cryptophthalmos [Term] id: HP:0008033 name: Congenital exotropia namespace: medical_genetics is_a: HP:0000577 ! Exotropia [Term] id: HP:0008034 name: Abnormal iris pigmentation namespace: medical_genetics is_a: HP:0000525 ! Abnormality of the iris [Term] id: HP:0008035 name: Retinitis pigmentosa inversa namespace: medical_genetics is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0008036 name: Retinal pigmentary dystrophy namespace: medical_genetics is_a: HP:0000556 ! Retinal dystrophy [Term] id: HP:0008037 name: Absent anterior eye chamber namespace: medical_genetics is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0008038 name: Aplastic/hypoplastic lacrimal glands namespace: medical_genetics is_a: HP:0000521 ! Abnormality of tear glands or tear production [Term] id: HP:0008039 name: Subepithelial corneal opacities namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0008040 name: Anterior chamber mesodermal anomalies namespace: medical_genetics is_a: HP:0000593 ! Abnormality of the anterior chamber [Term] id: HP:0008041 name: Late onset congenital glaucoma namespace: medical_genetics is_a: HP:0001087 ! Congenital glaucoma [Term] id: HP:0008042 name: No light-evoked response on electroretinogram namespace: medical_genetics is_a: HP:0000512 ! Abnormal electroretinogram (ERG) [Term] id: HP:0008043 name: Constricted retinal arterioles namespace: medical_genetics is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0008044 name: Extraocular muscle paralysis namespace: medical_genetics is_a: HP:0000544 ! External ophthalmoplegia [Term] id: HP:0008045 name: High flash visual evoked potentials namespace: medical_genetics is_a: HP:0000649 ! Abnormality of vision evoked potentials [Term] id: HP:0008046 name: Abnormality of the retinal vasculature namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0008047 ! Abnormality of the vasculature of the eye created_by: peter creation_date: 2008-04-02T12:09:00Z [Term] id: HP:0008047 name: Abnormality of the vasculature of the eye namespace: medical_genetics is_a: HP:0000478 ! Eye abnormality created_by: peter creation_date: 2008-04-02T12:10:00Z [Term] id: HP:0008048 name: Abnormality of the line of Schwalbe namespace: medical_genetics comment: Schwalbe's line is the anatomical line found on the posterior surface of the cornea, delineating the outer limit of the corneal endothelium layer. is_a: HP:0000481 ! Abnormality of the cornea created_by: peter creation_date: 2008-04-02T12:12:00Z [Term] id: HP:0008049 name: Abnormality of the extraocular muscles namespace: medical_genetics is_a: HP:0000496 ! Abnormality of eye movement created_by: peter creation_date: 2008-04-02T12:14:00Z [Term] id: HP:0008050 name: Abnormality of the palpebral fissures namespace: medical_genetics is_a: HP:0000492 ! Abnormality of the eyelid created_by: peter creation_date: 2008-04-02T01:22:00Z [Term] id: HP:0008051 name: Abnormality of the retinal pigment epithelium namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina created_by: peter creation_date: 2008-04-02T01:32:00Z [Term] id: HP:0008052 name: Abnormal retinal folds namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina created_by: peter creation_date: 2008-04-02T01:37:00Z [Term] id: HP:0008053 name: Aplasia/Hypoplasia of the iris namespace: medical_genetics is_a: HP:0000525 ! Abnormality of the iris is_a: HP:0008055 ! Aplasia/Hypoplasia affecting the uvea is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye created_by: peter creation_date: 2008-04-02T01:50:00Z [Term] id: HP:0008054 name: Abnormality of the vasculature of the conjunctiva namespace: medical_genetics is_a: HP:0000502 ! Abnormality of the conjunctiva is_a: HP:0008047 ! Abnormality of the vasculature of the eye created_by: peter creation_date: 2008-04-02T03:04:00Z [Term] id: HP:0008055 name: Aplasia/Hypoplasia affecting the uvea namespace: medical_genetics is_a: HP:0000553 ! Abnormality of the uvea is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye created_by: peter creation_date: 2008-04-02T03:24:00Z [Term] id: HP:0008056 name: Aplasia/Hypoplasia affecting the eye namespace: medical_genetics is_a: HP:0000478 ! Eye abnormality created_by: peter creation_date: 2008-04-02T03:25:00Z [Term] id: HP:0008057 name: Aplasia/Hypoplasia affecting the fundus namespace: medical_genetics is_a: HP:0001098 ! Abnormality of the fundus is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye created_by: peter creation_date: 2008-04-02T03:27:00Z [Term] id: HP:0008058 name: Aplasia/Hypoplasia of the optic nerve namespace: medical_genetics is_a: HP:0000587 ! Abnormality of the optic nerve is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus created_by: peter creation_date: 2008-04-02T03:28:00Z [Term] id: HP:0008059 name: Aplasia/Hypoplasia of the macula namespace: medical_genetics is_a: HP:0001103 ! Abnormality of the macula is_a: HP:0008061 ! Aplasia/Hypoplasia affecting the retina created_by: peter creation_date: 2008-04-02T03:29:00Z [Term] id: HP:0008060 name: Aplasia/Hypoplasia of the fovea namespace: medical_genetics is_a: HP:0000493 ! Abnormality of the fovea is_a: HP:0008059 ! Aplasia/Hypoplasia of the macula created_by: peter creation_date: 2008-04-02T03:30:00Z [Term] id: HP:0008061 name: Aplasia/Hypoplasia affecting the retina namespace: medical_genetics is_a: HP:0000479 ! Abnormality of the retina is_a: HP:0008057 ! Aplasia/Hypoplasia affecting the fundus created_by: peter creation_date: 2008-04-02T03:30:00Z [Term] id: HP:0008062 name: Aplasia/Hypoplasia affecting the anterior segment of the eye namespace: medical_genetics is_a: HP:0004328 ! Abnormality of the anterior segment of the eye is_a: HP:0008056 ! Aplasia/Hypoplasia affecting the eye created_by: peter creation_date: 2008-04-02T03:33:00Z [Term] id: HP:0008063 name: Aplasia/Hypoplasia of the lens namespace: medical_genetics is_a: HP:0000517 ! Abnormality of the lens is_a: HP:0008062 ! Aplasia/Hypoplasia affecting the anterior segment of the eye created_by: peter creation_date: 2008-04-02T03:33:00Z [Term] id: HP:0008064 name: Ichthyosiform abnormality of the skin namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality created_by: peter creation_date: 2008-04-02T03:41:00Z [Term] id: HP:0008065 name: Aplasia/Hypoplasia of the skin namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality created_by: peter creation_date: 2008-04-02T03:44:00Z [Term] id: HP:0008066 name: Abnormal blistering of the skin namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality created_by: peter creation_date: 2008-04-02T03:54:00Z [Term] id: HP:0008067 name: Abnormally lax or hyperextensible skin namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality created_by: peter creation_date: 2008-04-02T03:56:00Z [Term] id: HP:0008069 name: Dermatological tumors namespace: medical_genetics is_a: HP:0000951 ! Skin abnormality is_a: HP:0002664 ! Oncology created_by: peter creation_date: 2008-04-02T04:01:00Z [Term] id: HP:0008070 name: Sparse hair namespace: medical_genetics is_a: HP:0002115 ! Sparse or absent hair created_by: peter creation_date: 2008-04-02T04:11:00Z [Term] id: HP:0008071 name: Maternal hypertension namespace: medical_genetics is_a: HP:0002686 ! Prenatal maternal abnormality [Term] id: HP:0008072 name: Maternal virilization namespace: medical_genetics is_a: HP:0002686 ! Prenatal maternal abnormality [Term] id: HP:0008073 name: Low maternal serum estriol namespace: medical_genetics is_a: HP:0002686 ! Prenatal maternal abnormality [Term] id: HP:0008074 name: Metatarsal periosteal thickening namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones [Term] id: HP:0008075 name: Progressive pes cavus namespace: medical_genetics is_a: HP:0001761 ! Pes cavus [Term] id: HP:0008076 name: Osteoporotic tarsals namespace: medical_genetics is_a: HP:0009132 ! Abnormality of bone mineral density involving tarsal bones [Term] id: HP:0008077 name: Widely spaced and flexed toes namespace: medical_genetics is_a: HP:0008094 ! Widely spaced toes [Term] id: HP:0008078 name: Thin metatarsal cortices namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones [Term] id: HP:0008079 name: Absent 5th metatarsals namespace: medical_genetics is_a: HP:0001964 ! Aplasia/Hypoplasia of metatarsal bones [Term] id: HP:0008080 name: Medially deviated halluces namespace: medical_genetics is_a: HP:0001844 ! Abnormalities of the big toes [Term] id: HP:0008081 name: Valgus foot deformity namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0008082 name: Medial deviation of the foot namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0008083 name: 2nd-5th toe middle phalangeal hypoplasia namespace: medical_genetics is_a: HP:0001991 ! Aplasia/Hypoplasia of the toes [Term] id: HP:0008084 name: Agenesis of the halluces namespace: medical_genetics is_a: HP:0008362 ! Aplasia/Hypoplasia of the big toes [Term] id: HP:0008085 name: Broad cuboid first metatarsal namespace: medical_genetics is_a: HP:0004709 ! broad first metatarsal [Term] id: HP:0008086 name: Cutaneous 2,3 toe syndactyly namespace: medical_genetics alt_id: HP:0004683 synonym: "Complete cutaneous syndactyly of second and third toes" EXACT [] synonym: "cutaneous syndactyly of second and third toes" EXACT [] is_a: HP:0004691 ! 2-3 toe syndactyly [Term] id: HP:0008087 name: Nonossified fifth metatarsal namespace: medical_genetics is_a: HP:0008371 ! Abnormal ossification involving metatarsal bones [Term] id: HP:0008088 name: Short, tapering toes namespace: medical_genetics is_a: HP:0001767 ! Short toes [Term] id: HP:0008089 name: Anomalous fifth metatarsal namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones [Term] id: HP:0008090 name: Ankylosis of feet small joints namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0008091 name: Bifid distal phalanx of great toe namespace: medical_genetics is_a: HP:0001844 ! Abnormalities of the big toes [Term] id: HP:0008092 name: Tarsal fusions namespace: medical_genetics is_a: HP:0008368 ! Synostosis involving tarsal bones [Term] id: HP:0008093 name: Short fourth and fifth toes namespace: medical_genetics is_a: HP:0001767 ! Short toes [Term] id: HP:0008094 name: Widely spaced toes namespace: medical_genetics is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0008095 name: Osteolysis of tali namespace: medical_genetics is_a: HP:0008365 ! Abnormality of the talus bone [Term] id: HP:0008096 name: Medially deviated second toe namespace: medical_genetics is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0008097 name: Partial fusion of tarsals namespace: medical_genetics is_a: HP:0008368 ! Synostosis involving tarsal bones [Term] id: HP:0008098 name: Metatarsal synostosis namespace: medical_genetics alt_id: HP:0004705 synonym: "Fusion of metatarsals" EXACT [] is_a: HP:0001440 ! Synostosis involving metatarsal bones [Term] id: HP:0008099 name: Hypoplastic or dysplastic toes namespace: medical_genetics is_a: HP:0001991 ! Aplasia/Hypoplasia of the toes [Term] id: HP:0008100 name: Absent/hypoplastic third toe namespace: medical_genetics is_a: HP:0001991 ! Aplasia/Hypoplasia of the toes [Term] id: HP:0008101 name: Short proximal phalanx of halluces namespace: medical_genetics alt_id: HP:0008129 synonym: "Short proximal phalanges of halluces" EXACT [] is_a: HP:0008362 ! Aplasia/Hypoplasia of the big toes [Term] id: HP:0008102 name: Expanded metatarsals with widened medullary cavities namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones [Term] id: HP:0008103 name: Delayed tarsal ossification namespace: medical_genetics alt_id: HP:0008145 synonym: "Tarsal delayed ossification" EXACT [] is_a: HP:0008369 ! Abnormal ossification of tarsal bones [Term] id: HP:0008104 name: Delayed coalescence of calcaneal ossification centers namespace: medical_genetics is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008105 name: Short, broad first toe namespace: medical_genetics is_a: HP:0001767 ! Short toes [Term] id: HP:0008106 name: Widened metatarsal shaft namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones [Term] id: HP:0008107 name: Plantar crease between first and second toes namespace: medical_genetics is_a: HP:0001869 ! Deep plantar creases [Term] id: HP:0008108 name: Advanced tarsal ossification namespace: medical_genetics alt_id: HP:0008137 synonym: "Precociously ossified tarsal bones" EXACT [] is_a: HP:0008369 ! Abnormal ossification of tarsal bones [Term] id: HP:0008109 name: Aplastic/hypoplastic tarsals namespace: medical_genetics is_a: HP:0008363 ! Aplasia/Hypoplasia of the tarsal bones [Term] id: HP:0008110 name: Equinovarus deformity namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0008111 name: Broad distal hallux namespace: medical_genetics is_a: HP:0001834 ! Broad halluces [Term] id: HP:0008112 name: Plantar flexion contractures namespace: medical_genetics is_a: HP:0008366 ! Contractures involving the joints of the feet [Term] id: HP:0008113 name: Multiple plantar creases namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0008114 name: Metatarsal diaphyseal endosteal sclerosis namespace: medical_genetics is_a: HP:0008371 ! Abnormal ossification involving metatarsal bones [Term] id: HP:0008115 name: 3rd-4th toe clinodactyly namespace: medical_genetics is_a: HP:0001863 ! Clinodactyly (feet) [Term] id: HP:0008116 name: Flexion limitation of toes, progressive, permanent namespace: medical_genetics is_a: HP:0008128 ! Flexion contractures of the toes is_a: HP:0008366 ! Contractures involving the joints of the feet [Term] id: HP:0008117 name: Shortening of the talar neck namespace: medical_genetics is_a: HP:0008365 ! Abnormality of the talus bone [Term] id: HP:0008119 name: Deformed tarsal bones namespace: medical_genetics is_a: HP:0001850 ! Abnormalities of the tarsal bones [Term] id: HP:0008120 name: Valgus position of the calcaneus namespace: medical_genetics is_a: HP:0001848 ! Calcaneovalgus deformities [Term] id: HP:0008121 name: Duplicated first metatarsals namespace: medical_genetics is_a: HP:0001449 ! Duplication of metatarsal bones [Term] id: HP:0008122 name: Tarsonavicular and calcaneonavicular fusion namespace: medical_genetics is_a: HP:0008368 ! Synostosis involving tarsal bones [Term] id: HP:0008123 name: 2-3 toe soft tissue syndactyly namespace: medical_genetics is_a: HP:0004707 ! soft tissue syndactyly of toes [Term] id: HP:0008124 name: Talipes calcaneus namespace: medical_genetics is_a: HP:0001883 ! Talipes [Term] id: HP:0008125 name: Second metatarsal posteriorly placed namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones [Term] id: HP:0008127 name: Delayed fusion of bipartite calcanci namespace: medical_genetics is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008128 name: Flexion contractures of the toes namespace: medical_genetics is_a: HP:0008367 ! Contractures involving the toes [Term] id: HP:0008130 name: Extra calcaneal ossification center namespace: medical_genetics is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008131 name: Punctate calcifications of tarsals namespace: medical_genetics is_a: HP:0008369 ! Abnormal ossification of tarsal bones [Term] id: HP:0008132 name: Medial rotation of the medial malleolus namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet [Term] id: HP:0008133 name: Distal tapering of metatarsals namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones [Term] id: HP:0008134 name: Defective, irregular tarsal ossification namespace: medical_genetics alt_id: HP:0008140 synonym: "Small, irregular tarsal centers" EXACT [] is_a: HP:0008369 ! Abnormal ossification of tarsal bones [Term] id: HP:0008135 name: Hypoplastic feet namespace: medical_genetics is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet [Term] id: HP:0008138 name: Equinus deformity of the calcaneus namespace: medical_genetics is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008139 name: Enlarged first metatarsal namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones [Term] id: HP:0008141 name: Dislocation of toes namespace: medical_genetics is_a: HP:0001780 ! Abnormality of the toes [Term] id: HP:0008142 name: Absent talus and calcaneal ossification in infancy namespace: medical_genetics is_a: HP:0008370 ! Abnormal ossification involving bones of the feet [Term] id: HP:0008144 name: Flattening of the talar dome namespace: medical_genetics is_a: HP:0001850 ! Abnormalities of the tarsal bones [Term] id: HP:0008146 name: Double calcaneal ossification center namespace: medical_genetics is_a: HP:0008364 ! Abnormality of the calcaneus [Term] id: HP:0008147 name: Vacuolated blood lymphocytes namespace: medical_genetics is_a: HP:0001922 ! Vacuolated lymphocytes [Term] id: HP:0008148 name: Absent platelet aggregation response to epinephrine namespace: medical_genetics is_a: HP:0003540 ! Abnormal platelet aggregation [Term] id: HP:0008149 name: Abnormal lymph node histology namespace: medical_genetics is_a: HP:0002733 ! Abnormality of the lymph nodes [Term] id: HP:0008150 name: Elevated serum transaminases during infections namespace: medical_genetics is_a: HP:0002910 ! Elevated transaminases [Term] id: HP:0008151 name: Prolonged prothrombin and partial thromboplastin times namespace: medical_genetics is_a: HP:0003645 ! Prolonged partial thromboplastin time [Term] id: HP:0008152 name: Unexplained neonatal hyperbilirubinemia namespace: medical_genetics is_a: HP:0003265 ! Neonatal hyperbilirubinemia [Term] id: HP:0008153 name: Periodic hypokalemic paresis namespace: medical_genetics is_a: HP:0003768 ! Periodic paralysis [Term] id: HP:0008154 name: Elevated total cholesterol namespace: medical_genetics is_a: HP:0003124 ! Hypercholesterolemia [Term] id: HP:0008155 name: Acid mucopolysacchariduria namespace: medical_genetics is_a: HP:0003567 ! Mucopolysacchariduria [Term] id: HP:0008156 name: Audiograms consistent with progressive cochlear degeneration namespace: medical_genetics is_a: HP:0005102 ! Cochlear degeneration [Term] id: HP:0008157 name: Cone-rod dystrophy by electrophysiology namespace: medical_genetics is_a: HP:0000548 ! Cone-rod dystrophy [Term] id: HP:0008158 name: Hyperapobetalipoproteinemia namespace: medical_genetics is_a: HP:0003141 ! Increased beta-lipoproteins [Term] id: HP:0008159 name: Variable hyperlipidemia namespace: medical_genetics is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0008160 name: 3-hydroxydicarboxylic aciduria namespace: medical_genetics is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008161 name: Absent leukocyte alkaline phosphatase namespace: medical_genetics is_a: HP:0004852 ! low leukocyte alkaline phosphatase [Term] id: HP:0008162 name: Hyperammonemia, asymptomatic namespace: medical_genetics is_a: HP:0001987 ! Hyperammonemia [Term] id: HP:0008163 name: Plasma cortisol low namespace: medical_genetics is_a: HP:0003291 ! Low to undetectable plasma cortisol [Term] id: HP:0008164 name: Serum creatine kinase 20-70 times normal namespace: medical_genetics is_a: HP:0002147 ! Increased serum creatine kinase [Term] id: HP:0008165 name: Reduced circulating t-helper cells namespace: medical_genetics is_a: HP:0005412 ! Decreased numbers of circulating T cells [Term] id: HP:0008166 name: Decreased beta-galactosidase activity namespace: medical_genetics is_a: HP:0004342 ! Abnormality of galactoside metabolism [Term] id: HP:0008167 name: Very long chain fatty acid accumulation namespace: medical_genetics is_a: HP:0003455 ! Elevated long chain fatty acids [Term] id: HP:0008168 name: Increased total bilirubin may occur namespace: medical_genetics is_a: HP:0003573 ! Increased total bilirubin [Term] id: HP:0008169 name: Factor VII deficiency namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0008170 name: Markedly decreased motor nerve conduction velocities namespace: medical_genetics is_a: HP:0003431 ! Decreased motor nerve conduction velocity (NCV) [Term] id: HP:0008171 name: Widespread interstitial fibrosis namespace: medical_genetics is_a: HP:0000129 ! Interstitial fibrosis [Term] id: HP:0008172 name: Poor prothrombin consumption namespace: medical_genetics is_a: HP:0003337 ! Abnormal prothrombin consumption [Term] id: HP:0008173 name: Increased total cholesterol namespace: medical_genetics is_a: HP:0003464 ! Abnormal cholesterol homeostasis [Term] id: HP:0008174 name: Mild elevation of triglycerides namespace: medical_genetics is_a: HP:0003082 ! Increased serum triglycerides [Term] id: HP:0008175 name: Thrombocytopenia, mild-moderate namespace: medical_genetics is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0008176 name: Neonatal unconjugated hyperbilirubinemia namespace: medical_genetics is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0008177 name: Abnormal platelet aggregation in response to various agents namespace: medical_genetics is_a: HP:0003540 ! Abnormal platelet aggregation [Term] id: HP:0008178 name: Abnormal cartilage matrix namespace: medical_genetics is_a: HP:0002763 ! Abnormality of cartilage [Term] id: HP:0008179 name: Severely decreased to extinguished eog namespace: medical_genetics is_a: HP:0000550 ! Abolished electroretinogram (ERG) [Term] id: HP:0008180 name: Mildly elevated creatine phosphokinase namespace: medical_genetics is_a: HP:0003236 ! Elevated serum creatine phosphokinase [Term] id: HP:0008181 name: Abetalipoproteinemia namespace: medical_genetics is_a: HP:0003563 ! Hypobetalipoproteinemia [Term] id: HP:0008182 name: Adrenocortical hypoplasia namespace: medical_genetics is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0008183 name: Variable bleeding tendencies namespace: medical_genetics is_a: HP:0001892 ! Bleeding diathesis [Term] id: HP:0008184 name: Hypoaldosteronism, transient, isolated namespace: medical_genetics is_a: HP:0000355 ! Hypoaldosteronism [Term] id: HP:0008185 name: Precocious puberty in males namespace: medical_genetics synonym: "Male precocious puberty" EXACT [] is_a: HP:0000826 ! Precocious puberty [Term] id: HP:0008186 name: Adrenocortical cytomegaly namespace: medical_genetics is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0008187 name: Absence of secondary sex characteristics namespace: medical_genetics is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008188 name: Thyroid dysplasia/aplasia namespace: medical_genetics is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0008189 name: Insulin insensitivity namespace: medical_genetics is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0008190 name: Mineralocorticoid insufficiency namespace: medical_genetics is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0008191 name: Athyroidal hypothyroidism namespace: medical_genetics is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0008192 name: Gonadotropin deficiency namespace: medical_genetics is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008193 name: Primary gonadal insufficiency namespace: medical_genetics is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008194 name: Multiple pancreatic beta-cell adenomas namespace: medical_genetics is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0008195 name: Growth hormone deficiency in some individuals namespace: medical_genetics is_a: HP:0000824 ! Growth hormone deficiency [Term] id: HP:0008197 name: Absence of pubertal development namespace: medical_genetics is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008198 name: Congenital hypoparathyroidism namespace: medical_genetics is_a: HP:0000829 ! Hypoparathyroidism [Term] id: HP:0008199 name: Neonatal hypoparathyroidism namespace: medical_genetics is_a: HP:0000829 ! Hypoparathyroidism [Term] id: HP:0008200 name: Primary hyperparathyroidism namespace: medical_genetics is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0008201 name: Neonatal true idiopathic hypoparathyroidism namespace: medical_genetics is_a: HP:0000829 ! Hypoparathyroidism [Term] id: HP:0008202 name: Isolated prolactin deficiency namespace: medical_genetics is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008203 name: Hypothyroidism in subset of patients namespace: medical_genetics is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0008204 name: Precocious puberty with sertoli cell tumor namespace: medical_genetics is_a: HP:0000826 ! Precocious puberty [Term] id: HP:0008205 name: Insulin-dependent but ketosis-resistant diabetes namespace: medical_genetics is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0008206 name: Partial growth hormone deficiency namespace: medical_genetics is_a: HP:0000824 ! Growth hormone deficiency [Term] id: HP:0008207 name: Primary adrenal insufficiency namespace: medical_genetics is_a: HP:0000846 ! Adrenal insufficiency [Term] id: HP:0008208 name: Parathyroid hyperplasia namespace: medical_genetics is_a: HP:0000828 ! Parathyroid disorders [Term] id: HP:0008209 name: Premature ovarian failure namespace: medical_genetics is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008211 name: Parathyroid absence namespace: medical_genetics is_a: HP:0000828 ! Parathyroid disorders [Term] id: HP:0008212 name: Asymptomatic hyperthyroxinemia namespace: medical_genetics is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0008213 name: Pituitary gonadotropin deficiency namespace: medical_genetics is_a: HP:0000864 ! Disorders of the hypothalamus-pituitary axis [Term] id: HP:0008214 name: Decreased serum estradiol namespace: medical_genetics is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008215 name: End-organ unresponsiveness to thyroid hormone namespace: medical_genetics is_a: HP:0002930 ! Thyroid hormone receptor defect [Term] id: HP:0008216 name: Dysplastic adrenal glands namespace: medical_genetics is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0008217 name: Early onset diabetes mellitus namespace: medical_genetics is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0008218 name: Chronic adrenal insufficiency namespace: medical_genetics is_a: HP:0000846 ! Adrenal insufficiency [Term] id: HP:0008219 name: Adrenocortical insufficiency namespace: medical_genetics is_a: HP:0000846 ! Adrenal insufficiency [Term] id: HP:0008220 name: Hypocortisolemia namespace: medical_genetics is_a: HP:0004317 ! Decreased cortisol production [Term] id: HP:0008221 name: Enlarged adrenal glands namespace: medical_genetics is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0008222 name: Female infertility namespace: medical_genetics is_a: HP:0000868 ! Decreased fertility in females [Term] id: HP:0008223 name: Compensated hypothyroidism namespace: medical_genetics is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0008224 name: Isolated hypogonadotropic hypogonadism namespace: medical_genetics is_a: HP:0000044 ! Hypogonadotrophic hypogonadism [Term] id: HP:0008225 name: Thyroid follicular hyperplasia namespace: medical_genetics is_a: HP:0008249 ! Thyroid hyperplasia [Term] id: HP:0008226 name: Androgen insufficiency namespace: medical_genetics is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008227 name: Pituitary resistance to thyroid hormone namespace: medical_genetics is_a: HP:0000864 ! Disorders of the hypothalamus-pituitary axis [Term] id: HP:0008228 name: Pseudohypoaldosteronism type ii namespace: medical_genetics is_a: HP:0008242 ! Pseudohypoaldosteronism [Term] id: HP:0008229 name: Thyroid lymphangiectasia namespace: medical_genetics alt_id: HP:0008235 synonym: "Thyroid lymphangiectasis" EXACT [] is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0008230 name: Decreased testosterone in males namespace: medical_genetics is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008231 name: Macronodular adrenal hyperplasia namespace: medical_genetics is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0008232 name: Elevated follicle stimulating hormone namespace: medical_genetics alt_id: HP:0008324 synonym: "Elevated plasma follicle stimulating hormone" EXACT [] is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008233 name: Decreased serum progesterone namespace: medical_genetics is_a: HP:0008373 ! Puberty and gonadal disorders [Term] id: HP:0008234 name: Early-onset insulin-dependent diabetes mellitus namespace: medical_genetics is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0008236 name: Isosexual precocious puberty namespace: medical_genetics is_a: HP:0000826 ! Precocious puberty [Term] id: HP:0008237 name: Hypothalamic hypothyroidism namespace: medical_genetics is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0008238 name: Anterior pituitary hypoplasia namespace: medical_genetics is_a: HP:0000864 ! Disorders of the hypothalamus-pituitary axis [Term] id: HP:0008239 name: Adrenal medullary hypoplasia namespace: medical_genetics is_a: HP:0000835 ! Adrenal hypoplasia [Term] id: HP:0008240 name: Secondary growth hormone deficiency namespace: medical_genetics is_a: HP:0000824 ! Growth hormone deficiency [Term] id: HP:0008241 name: Mild hyperthyroidism namespace: medical_genetics is_a: HP:0000836 ! Hyperthyroidism [Term] id: HP:0008242 name: Pseudohypoaldosteronism namespace: medical_genetics is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0008244 name: Congenital adrenal gland hypoplasia namespace: medical_genetics is_a: HP:0000835 ! Adrenal hypoplasia [Term] id: HP:0008245 name: Tsh deficient hypothyroidism namespace: medical_genetics is_a: HP:0000821 ! Hypothyroidism [Term] id: HP:0008246 name: Adrenal hypoplasia, 'miniature adult'type namespace: medical_genetics is_a: HP:0000835 ! Adrenal hypoplasia [Term] id: HP:0008247 name: Euthyroid hyperthyroxinemia namespace: medical_genetics is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0008248 name: Thyroid stimulating hormone deficiency namespace: medical_genetics is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0008249 name: Thyroid hyperplasia namespace: medical_genetics is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0008250 name: Infantile hypercalcemia namespace: medical_genetics is_a: HP:0003072 ! Hypercalcemia [Term] id: HP:0008251 name: Congenital goiter namespace: medical_genetics is_a: HP:0000853 ! Goiter [Term] id: HP:0008252 name: Primary adrenocortical failure namespace: medical_genetics is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0008253 name: Diabetic ketoacidosis namespace: medical_genetics is_a: HP:0001953 ! Diabetic ketosis [Term] id: HP:0008254 name: Neonatal primary hyperparathyroidism namespace: medical_genetics is_a: HP:0000843 ! Hyperparathyroidism [Term] id: HP:0008255 name: Transient neonatal diabetes mellitus namespace: medical_genetics is_a: HP:0000857 ! Neonatal insulin-dependent diabetes mellitus [Term] id: HP:0008256 name: Adrenocortical adenoma namespace: medical_genetics alt_id: HP:0008196 def: "Adrenocortical adenomas are benign tumors of the adrenal cortex." [HPO:curators] synonym: "Adrenocortical adenomas" EXACT [] is_a: HP:0000849 ! Adrenocortical abnormality [Term] id: HP:0008257 name: Solitary parathyroid adenomas namespace: medical_genetics is_a: HP:0002897 ! Parathyroid adenoma [Term] id: HP:0008258 name: Congenital adrenal hyperplasia namespace: medical_genetics is_a: HP:0000834 ! Abnormality of the adrenal glands [Term] id: HP:0008259 name: Adrenocorticotropic hormone -resistant adrenal insufficiency namespace: medical_genetics is_a: HP:0000846 ! Adrenal insufficiency [Term] id: HP:0008260 name: Diabetes mellitus, insulin-dependent, late onset namespace: medical_genetics is_a: HP:0000819 ! Diabetes mellitus [Term] id: HP:0008261 name: Pancreatic islet cell adenoma namespace: medical_genetics is_a: HP:0006476 ! Abnormality of the pancreatic islet cells [Term] id: HP:0008262 name: Thyroid hormone resistance namespace: medical_genetics alt_id: HP:0008243 synonym: "Resistance to thyroid hormone" EXACT [] is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0008263 name: Thyroid defect in oxidation and organification of iodide namespace: medical_genetics is_a: HP:0000820 ! Abnormality of the thyroid gland [Term] id: HP:0008264 name: Leukocyte granulation abnormality namespace: medical_genetics is_a: HP:0001881 ! Abnormality of leukocytes [Term] id: HP:0008265 name: Mitochondrial lysine transport defect namespace: medical_genetics is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008266 name: Increased serum bone-specific alkaline phosphatase namespace: medical_genetics is_a: HP:0003155 ! Elevated alkaline phosphatase [Term] id: HP:0008267 name: Abnormal liver enzymes namespace: medical_genetics is_a: HP:0001411 ! Abnormal liver function tests [Term] id: HP:0008268 name: Moderate-to-severe thrombocytopenia namespace: medical_genetics is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0008269 name: Increased red cell hemolysis by shear stress namespace: medical_genetics is_a: HP:0005503 ! Increased hemolysis [Term] id: HP:0008270 name: Impaired lysine intestinal absorption namespace: medical_genetics is_a: HP:0002024 ! Malabsorption [Term] id: HP:0008271 name: Abnormal cartilage collagen on EM namespace: medical_genetics is_a: HP:0002763 ! Abnormality of cartilage [Term] id: HP:0008272 name: Renal tubular lysine transport defect namespace: medical_genetics is_a: HP:0000124 ! Renal tubular dysfunction [Term] id: HP:0008273 name: Transient aminoaciduria namespace: medical_genetics is_a: HP:0002903 ! Aminoaciduria [Term] id: HP:0008274 name: Low to low-normal magnesium namespace: medical_genetics is_a: HP:0004921 ! abnormal magnesium metabolism [Term] id: HP:0008275 name: Abnormal cone-mediated electroretinogram namespace: medical_genetics is_a: HP:0000512 ! Abnormal electroretinogram (ERG) [Term] id: HP:0008276 name: Onion bulb formations on sural nerve biopsy namespace: medical_genetics is_a: HP:0003383 ! 'Onion bulb' formations on nerve biopsy [Term] id: HP:0008277 name: Abnormal zinc metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0008278 name: Massive cerebellar cortical atrophy with vacuolated or binucleated purkinje cells namespace: medical_genetics is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0008279 name: Transient hyperlipidemia namespace: medical_genetics is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0008280 name: Absent cone and rod functions by electroretinogram namespace: medical_genetics alt_id: HP:0003230 synonym: "Absent cone and rod functions by electroretinogram (ERG)" EXACT [] is_a: HP:0000512 ! Abnormal electroretinogram (ERG) [Term] id: HP:0008281 name: Hyperammonemia, acute namespace: medical_genetics is_a: HP:0001987 ! Hyperammonemia [Term] id: HP:0008282 name: Unconjugated hyperbilirubinemia namespace: medical_genetics is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0008283 name: Hyperinsulinemia, fasting namespace: medical_genetics is_a: HP:0000842 ! Hyperinsulinemia [Term] id: HP:0008284 name: Generalized nonspecific aminoaciduria namespace: medical_genetics is_a: HP:0002909 ! Generalized aminoaciduria [Term] id: HP:0008285 name: Transient hypophosphatemia namespace: medical_genetics is_a: HP:0002148 ! Hypophosphatemia [Term] id: HP:0008286 name: Partial deficiency of factor xii:c namespace: medical_genetics is_a: HP:0004841 ! Factor XII deficiency [Term] id: HP:0008287 name: Methylcobalamin, cbl g, deficiency namespace: medical_genetics is_a: HP:0003223 ! Decreased methylcobalamin (MECBL) [Term] id: HP:0008288 name: Nonketotic hyperglycinemia namespace: medical_genetics is_a: HP:0002154 ! Hyperglycinemia [Term] id: HP:0008289 name: Unconjugated hyperbilirubinemia 20-30mg/dl namespace: medical_genetics is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0008290 name: Partial complement factor h deficiency namespace: medical_genetics is_a: HP:0005369 ! Decreased serum complement factor H [Term] id: HP:0008291 name: Acth-producing pituitary microadenomas namespace: medical_genetics is_a: HP:0002893 ! Pituitary adenoma [Term] id: HP:0008292 name: Parathyroid hormone absent to low namespace: medical_genetics is_a: HP:0000856 ! Low parathyroid hormone [Term] id: HP:0008293 name: Long-chain dicarboxylic aciduria namespace: medical_genetics is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008294 name: Mildly prolonged bleeding time 10-12 minutes namespace: medical_genetics is_a: HP:0003010 ! Prolonged bleeding time [Term] id: HP:0008295 name: Methylmalonic aciduria, mild namespace: medical_genetics is_a: HP:0003123 ! Methylmalonic aciduria [Term] id: HP:0008296 name: Greatly elevated alkaline phosphatase namespace: medical_genetics is_a: HP:0003155 ! Elevated alkaline phosphatase [Term] id: HP:0008297 name: Transient hyperphenylalaninemia namespace: medical_genetics is_a: HP:0004923 ! hyperphenylalaninemia [Term] id: HP:0008298 name: Elevated prostaglandin e2 namespace: medical_genetics is_a: HP:0003566 ! Increased serum prostaglandin E [Term] id: HP:0008299 name: Increased serum beta-hexosaminidase namespace: medical_genetics is_a: HP:0003333 ! Increased serum beta-hexosaminidase (10-20x) [Term] id: HP:0008300 name: Beta-galactosidase deficiency in fibroblasts and white blood cells namespace: medical_genetics is_a: HP:0003644 ! Decreased beta-galactosidase activity (leukocyte, fibroblast, plasma) [Term] id: HP:0008301 name: Dermatan sulfate excretion in urine namespace: medical_genetics is_a: HP:0003541 ! Dermatan and heparan sulfate excretion in urine [Term] id: HP:0008302 name: Mild-to-moderate thrombocytopenia namespace: medical_genetics is_a: HP:0001873 ! Thrombocytopenia [Term] id: HP:0008303 name: Cerebellar atrophy with degeneration in the olivary nuclei namespace: medical_genetics is_a: HP:0001272 ! Cerebellar atrophy [Term] id: HP:0008304 name: Electrophysiologic evidence of axonal neuropathy namespace: medical_genetics is_a: HP:0003477 ! Axonal neuropathy [Term] id: HP:0008305 name: Myoglobinuria, exercise-induced namespace: medical_genetics is_a: HP:0002913 ! Myoglobinuria [Term] id: HP:0008306 name: Abnormal iron deposition in mitochondria namespace: medical_genetics is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008307 name: High frequency of chromosome breaks in lymphocytes namespace: medical_genetics is_a: HP:0003220 ! Tendency to chromosomal breakage [Term] id: HP:0008308 name: Mild-moderate hyperammonemia namespace: medical_genetics is_a: HP:0001987 ! Hyperammonemia [Term] id: HP:0008309 name: Medium chain dicarboxylic aciduria namespace: medical_genetics is_a: HP:0003215 ! Dicarboxylic aciduria [Term] id: HP:0008311 name: Spinal cord posterior columns myelin loss namespace: medical_genetics is_a: HP:0002143 ! Abnormality of the spinal cord and vertebral column [Term] id: HP:0008312 name: Progressive loss of anterior horn cells namespace: medical_genetics is_a: HP:0007136 ! Loss of spinal cord anterior horn cells [Term] id: HP:0008313 name: Myoglobinuria, episodic namespace: medical_genetics is_a: HP:0003652 ! Recurrent myoglobinuria [Term] id: HP:0008314 name: Decreased activity of mitochondrial complex ii namespace: medical_genetics is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008315 name: Decreased plasma total and free carnitine namespace: medical_genetics is_a: HP:0003234 ! Decreased plasma carnitine [Term] id: HP:0008316 name: Abnormal mitochondria on muscle biopsy namespace: medical_genetics synonym: "Muscle biopsy shows abnormal mitochondria" EXACT [] is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008317 name: Mild generalized aminoaciduria namespace: medical_genetics is_a: HP:0002909 ! Generalized aminoaciduria [Term] id: HP:0008318 name: Elevated leukocyte alkaline phosphatase namespace: medical_genetics is_a: HP:0003155 ! Elevated alkaline phosphatase [Term] id: HP:0008319 name: Exercise-induced myoglobinuria in adults namespace: medical_genetics is_a: HP:0002913 ! Myoglobinuria [Term] id: HP:0008320 name: Reduced platelet aggregation response to collagen and thrombin namespace: medical_genetics is_a: HP:0003540 ! Abnormal platelet aggregation [Term] id: HP:0008321 name: Factor X deficiency namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0008322 name: Ultrastructural abnormalities in mitochondria on electron microscopy namespace: medical_genetics is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008323 name: Abnormal rod and cone electroretinograms namespace: medical_genetics is_a: HP:0000512 ! Abnormal electroretinogram (ERG) [Term] id: HP:0008325 name: Total serum gamma globulins low namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0008326 name: Vitamin B6 deficiency namespace: medical_genetics is_a: HP:0004340 ! Abnormality of B-vitamin metabolism [Term] id: HP:0008327 name: Microscopic nephrocalcinosis namespace: medical_genetics is_a: HP:0000121 ! Nephrocalcinosis [Term] id: HP:0008328 name: Absent or severely reduced levels of serum immunoglobulins namespace: medical_genetics is_a: HP:0004313 ! Reduced immunoglobulin levels [Term] id: HP:0008329 name: Enlarged lysosomal vacuoles in lymphocytes namespace: medical_genetics is_a: HP:0001922 ! Vacuolated lymphocytes [Term] id: HP:0008330 name: Decreased von Willebrand factor namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0008331 name: Elevated creatine kinase after exercise namespace: medical_genetics is_a: HP:0003236 ! Elevated serum creatine phosphokinase [Term] id: HP:0008332 name: Mild hypertriglyceridemia namespace: medical_genetics is_a: HP:0002155 ! Hypertriglyceridemia [Term] id: HP:0008333 name: Elevated long chain fatty acids in plasma, fibroblasts and amniocytes namespace: medical_genetics is_a: HP:0003455 ! Elevated long chain fatty acids [Term] id: HP:0008334 name: Mild hyperammonemia namespace: medical_genetics is_a: HP:0001987 ! Hyperammonemia [Term] id: HP:0008335 name: Renal aminoaciduria namespace: medical_genetics is_a: HP:0002903 ! Aminoaciduria [Term] id: HP:0008336 name: Complex organic aciduria namespace: medical_genetics is_a: HP:0001992 ! Organic aciduria [Term] id: HP:0008337 name: Prolonged bleeding time 15-to->30 minutes namespace: medical_genetics is_a: HP:0003010 ! Prolonged bleeding time [Term] id: HP:0008338 name: Partial functional complement factor d deficiency namespace: medical_genetics is_a: HP:0004431 ! Complement deficiency [Term] id: HP:0008339 name: Diaminoaciduria namespace: medical_genetics is_a: HP:0002903 ! Aminoaciduria [Term] id: HP:0008340 name: Decreased serum igg namespace: medical_genetics is_a: HP:0004313 ! Reduced immunoglobulin levels [Term] id: HP:0008341 name: Renal tubular acidosis, type i namespace: medical_genetics is_a: HP:0001947 ! Renal tubular acidosis [Term] id: HP:0008342 name: Mildly elevated transaminases namespace: medical_genetics is_a: HP:0002910 ! Elevated transaminases [Term] id: HP:0008343 name: Increased LDL cholesterol namespace: medical_genetics is_a: HP:0003107 ! Abnormality of cholesterol metabolism [Term] id: HP:0008344 name: Elevated plasma branched chain amino acids namespace: medical_genetics is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0008345 name: Hypoplasia of the iris dilator muscle namespace: medical_genetics is_a: HP:0007676 ! Hypoplasia of the iris [Term] id: HP:0008346 name: Increased red cell sickling tendency namespace: medical_genetics is_a: HP:0001877 ! Abnormality of erythrocytes [Term] id: HP:0008347 name: Decreased activity of mitochondrial respiratory complexes i, ii+iii, and iv namespace: medical_genetics is_a: HP:0003287 ! Abnormality of mitochondrial metabolism [Term] id: HP:0008348 name: Reduced IgG levels, particularly the IgG2 subclass namespace: medical_genetics alt_id: HP:0008310 def: "A reduction in immunoglobulin levels affecting particular the IgG2 subclass." [HPO:curators] synonym: "Reduced IgG levels, particularly IgG2 subclass" EXACT [] is_a: HP:0004315 ! Decreased IgG [Term] id: HP:0008349 name: Combined factor viii and factor ix deficiency namespace: medical_genetics is_a: HP:0003125 ! Factor VIII deficiency [Term] id: HP:0008350 name: Reduced iga levels namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality [Term] id: HP:0008351 name: Direct hyperbilirubinemia namespace: medical_genetics is_a: HP:0002904 ! Hyperbilirubinemia [Term] id: HP:0008352 name: Platelet adhesion and aggregation decreased namespace: medical_genetics is_a: HP:0003540 ! Abnormal platelet aggregation [Term] id: HP:0008353 name: Neutral hyperaminoaciduria namespace: medical_genetics is_a: HP:0002903 ! Aminoaciduria [Term] id: HP:0008354 name: Factor X activation deficiency namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0008355 name: Combined factor vii and viii deficiency namespace: medical_genetics is_a: HP:0003125 ! Factor VIII deficiency [Term] id: HP:0008356 name: Combined hyperlipidemia namespace: medical_genetics is_a: HP:0003077 ! Hyperlipidemia [Term] id: HP:0008357 name: Partial deficiency of factor XIII:C namespace: medical_genetics is_a: HP:0001928 ! Abnormality of coagulation [Term] id: HP:0008358 name: Hyperprolinemia namespace: medical_genetics is_a: HP:0004337 ! Abnormality of amino acid metabolism [Term] id: HP:0008359 name: Mild elevation of cholesterol namespace: medical_genetics is_a: HP:0003124 ! Hypercholesterolemia [Term] id: HP:0008360 name: Neonatal hypoproteinemia namespace: medical_genetics is_a: HP:0003075 ! Hypoproteinemia [Term] id: HP:0008361 name: Corticospinal tract pallor namespace: medical_genetics is_a: HP:0002492 ! Abnormality of the corticospinal tracts [Term] id: HP:0008362 name: Aplasia/Hypoplasia of the big toes namespace: medical_genetics alt_id: HP:0004694 alt_id: HP:0008118 alt_id: HP:0008126 synonym: "Aplasia/hypoplasia of halluces" EXACT [] synonym: "Aplastic/hypoplastic halluces" EXACT [] synonym: "Hypoplasia of the halluces" EXACT [] is_a: HP:0001844 ! Abnormalities of the big toes is_a: HP:0001991 ! Aplasia/Hypoplasia of the toes created_by: peter creation_date: 2008-04-04T11:33:00Z [Term] id: HP:0008363 name: Aplasia/Hypoplasia of the tarsal bones namespace: medical_genetics is_a: HP:0001850 ! Abnormalities of the tarsal bones is_a: HP:0006494 ! Aplasia/Hypoplasia involving bones of the feet created_by: peter creation_date: 2008-04-04T11:35:00Z [Term] id: HP:0008364 name: Abnormality of the calcaneus namespace: medical_genetics is_a: HP:0001850 ! Abnormalities of the tarsal bones created_by: peter creation_date: 2008-04-04T11:38:00Z [Term] id: HP:0008365 name: Abnormality of the talus bone namespace: medical_genetics is_a: HP:0001850 ! Abnormalities of the tarsal bones created_by: peter creation_date: 2008-04-04T11:43:00Z [Term] id: HP:0008366 name: Contractures involving the joints of the feet namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet created_by: peter creation_date: 2008-04-04T11:44:00Z [Term] id: HP:0008367 name: Contractures involving the toes namespace: medical_genetics is_a: HP:0001780 ! Abnormality of the toes is_a: HP:0008366 ! Contractures involving the joints of the feet created_by: peter creation_date: 2008-04-04T11:46:00Z [Term] id: HP:0008368 name: Synostosis involving tarsal bones namespace: medical_genetics alt_id: HP:0001851 alt_id: HP:0001957 synonym: "Tarsal bone fusion" EXACT [] synonym: "Tarsal bone synostosis" EXACT [] synonym: "Tarsal fusion" EXACT [] synonym: "Tarsal synostosis" RELATED [] is_a: HP:0001850 ! Abnormalities of the tarsal bones is_a: HP:0009140 ! Synostosis involving bones of the feet created_by: peter creation_date: 2008-04-04T11:52:00Z [Term] id: HP:0008369 name: Abnormal ossification of tarsal bones namespace: medical_genetics is_a: HP:0001850 ! Abnormalities of the tarsal bones is_a: HP:0008370 ! Abnormal ossification involving bones of the feet created_by: peter creation_date: 2008-04-04T11:53:00Z [Term] id: HP:0008370 name: Abnormal ossification involving bones of the feet namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet created_by: peter creation_date: 2008-04-04T11:58:00Z [Term] id: HP:0008371 name: Abnormal ossification involving metatarsal bones namespace: medical_genetics is_a: HP:0001832 ! Abnormalities of the metatarsal bones is_a: HP:0008370 ! Abnormal ossification involving bones of the feet created_by: peter creation_date: 2008-04-04T11:59:00Z [Term] id: HP:0008372 name: Abnormality of vitamin A metabolism namespace: medical_genetics is_a: HP:0001939 ! Metabolism abnormality created_by: peter creation_date: 2008-04-04T12:29:00Z [Term] id: HP:0008373 name: Puberty and gonadal disorders namespace: medical_genetics alt_id: HP:0000827 is_a: HP:0000818 ! Endocrine abnormality created_by: peter creation_date: 2008-04-04T12:35:00Z [Term] id: HP:0008374 name: Weak, high-pitched voice namespace: medical_genetics is_a: HP:0001620 ! High pitched voice [Term] id: HP:0008375 name: Vocal impairment, severe, due to laryngeal cartilage abnormalities namespace: medical_genetics is_a: HP:0001608 ! Abnormality of the voice [Term] id: HP:0008376 name: Nasal, dysarthic speech namespace: medical_genetics is_a: HP:0001260 ! Dysarthria [Term] id: HP:0008377 name: High-pitched, coarse voice namespace: medical_genetics is_a: HP:0001620 ! High pitched voice [Term] id: HP:0008378 name: Harsh, quivering, high-pitched, weak voice namespace: medical_genetics is_a: HP:0001620 ! High pitched voice [Term] id: HP:0008379 name: Small, high-pitched voice namespace: medical_genetics is_a: HP:0001620 ! High pitched voice [Term] id: HP:0008380 name: Tubular nails, fifth fingers namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0008381 name: Hypoplastic-absent toenails namespace: medical_genetics is_a: HP:0001800 ! Hypoplastic toenails [Term] id: HP:0008382 name: Dystrophic thickened nails namespace: medical_genetics is_a: HP:0001805 ! Thickened nails [Term] id: HP:0008383 name: Slow-growing nails namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0008384 name: Aplastic/hypoplastic fingernails namespace: medical_genetics is_a: HP:0001804 ! Hypoplastic fingernails [Term] id: HP:0008385 name: Absent/hypoplastic nails namespace: medical_genetics is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0008386 name: Aplasia/Hypoplasia of the nails namespace: medical_genetics synonym: "Nail aplasia/hypoplasia" EXACT [] is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0008387 name: Nail dysplasia/aplasia namespace: medical_genetics is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008388 name: Abnormal toenails namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0008389 name: Aplastic/hypoplastic toenails namespace: medical_genetics is_a: HP:0001800 ! Hypoplastic toenails [Term] id: HP:0008390 name: Recurrent loss of toenails and fingernails namespace: medical_genetics is_a: HP:0001231 ! Abnormalities of the fingernails [Term] id: HP:0008391 name: Mildly dystrophic fingernails namespace: medical_genetics is_a: HP:0001794 ! Dystrophic nails [Term] id: HP:0008392 name: Subungual hyperkeratosis namespace: medical_genetics is_a: HP:0009723 ! Abnormality of the subungual region [Term] id: HP:0008393 name: Congenital curved nail, fourth toe namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0008394 name: Congenital onychodystrophy namespace: medical_genetics is_a: HP:0001794 ! Dystrophic nails [Term] id: HP:0008395 name: Onychogryphosis of large toenails namespace: medical_genetics is_a: HP:0001819 ! Onychogryposis [Term] id: HP:0008396 name: Chronic monilial nail infection namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0008397 name: Small fissured dystrophic nails namespace: medical_genetics is_a: HP:0001794 ! Dystrophic nails [Term] id: HP:0008398 name: Hypoplastic to absent fifth finger- and toenails namespace: medical_genetics is_a: HP:0008386 ! Aplasia/Hypoplasia of the nails [Term] id: HP:0008399 name: Circumungual hyperkeratosis namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0008400 name: Onycholysis of distal fingernails namespace: medical_genetics is_a: HP:0001806 ! Onycholysis [Term] id: HP:0008401 name: Onychogryposis of toenails namespace: medical_genetics is_a: HP:0001819 ! Onychogryposis [Term] id: HP:0008402 name: Longitudinally grooved fingernails namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0008403 name: Onychodysplasia may be present namespace: medical_genetics is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008404 name: Nail dystrophy, variable namespace: medical_genetics is_a: HP:0001794 ! Dystrophic nails [Term] id: HP:0008405 name: Severe onychogryposis, esp the great toes namespace: medical_genetics is_a: HP:0001819 ! Onychogryposis [Term] id: HP:0008406 name: Short and broad fingernails namespace: medical_genetics is_a: HP:0001821 ! Broad nails [Term] id: HP:0008407 name: Hyperconvex thumb nails namespace: medical_genetics is_a: HP:0001795 ! Hyperconvex nails [Term] id: HP:0008408 name: Onychodystrophy, severe namespace: medical_genetics is_a: HP:0001794 ! Dystrophic nails [Term] id: HP:0008409 name: Absent/dysplastic nails namespace: medical_genetics is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008410 name: Subungual hyperkeratotic fragments namespace: medical_genetics is_a: HP:0009723 ! Abnormality of the subungual region [Term] id: HP:0008411 name: Short, thin, slow growing nails namespace: medical_genetics is_a: HP:0001597 ! Abnormality of the nails [Term] id: HP:0008412 name: Small, dysplastic nails namespace: medical_genetics is_a: HP:0002164 ! Nail dysplasia [Term] id: HP:0008413 name: Nail dystrophy with overcurvature namespace: medical_genetics is_a: HP:0001794 ! Dystrophic nails [Term] id: HP:0008414 name: Lumbar kyphosis in infancy namespace: medical_genetics is_a: HP:0008454 ! Lumbar kyphosis [Term] id: HP:0008416 name: Six lumbar vertebrae namespace: medical_genetics is_a: HP:0002946 ! Supernumerary vertebrae [Term] id: HP:0008417 name: Vertebral hypoplasia namespace: medical_genetics is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008418 name: Squared-off platyspondyly namespace: medical_genetics is_a: HP:0000926 ! Platyspondyly [Term] id: HP:0008419 name: Degeneration of intervertebral disks namespace: medical_genetics is_a: HP:0005108 ! Abnormality of the intervertebral disks [Term] id: HP:0008420 name: Vertebral calcifications namespace: medical_genetics is_a: HP:0003468 ! Abnormalities of the vertebrae [Term] id: HP:0008421 name: Tall lumbar vertebral bodies namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008422 name: Wedge-shaped vertebrae namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008423 name: Spinal dysplasia namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008424 name: Hypoplastic 5th lumbar vertebrae namespace: medical_genetics is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae [Term] id: HP:0008425 name: Cuboid-shaped thoracolumbar vertebral bodies namespace: medical_genetics is_a: HP:0004634 ! Cuboid-shaped vertebral bodies [Term] id: HP:0008428 name: Vertebral clefts namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008429 name: Small, flat cervical vertebrae namespace: medical_genetics is_a: HP:0004629 ! small cervical vertebral bodies [Term] id: HP:0008430 name: Mild anterior beaking of lumbar vertebrae namespace: medical_genetics is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0008431 name: Underdeveloped vertebrae namespace: medical_genetics is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008432 name: Anterior wedging of l1 and l2 namespace: medical_genetics is_a: HP:0003313 ! Anterior beaking of vertebral bodies [Term] id: HP:0008433 name: Reversed usual vertebral column curves namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008434 name: Hypoplastic cervical vertebrae namespace: medical_genetics alt_id: HP:0008415 synonym: "Cervical vertebrae hypoplasia" EXACT [] is_a: HP:0004587 ! abnormal cervical vertebrae [Term] id: HP:0008435 name: Absent in utero ossification of vertebral bodies namespace: medical_genetics is_a: HP:0004606 ! Unossified vertebral bodies [Term] id: HP:0008436 name: Absent/hypoplastic coccyx namespace: medical_genetics is_a: HP:0008517 ! Aplasia/Hypoplasia of the sacrum [Term] id: HP:0008437 name: Bifid thoracic vertebrae namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008438 name: Vertebral arch abnormalities namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008439 name: Lumbar hemivertebrae namespace: medical_genetics is_a: HP:0002937 ! Hemivertebrae [Term] id: HP:0008440 name: C1-C2 vertebral abnormality namespace: medical_genetics is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008441 name: Herniated intervertebral nuclei namespace: medical_genetics is_a: HP:0005108 ! Abnormality of the intervertebral disks [Term] id: HP:0008442 name: Vertebral hyperostosis namespace: medical_genetics is_a: HP:0003468 ! Abnormalities of the vertebrae [Term] id: HP:0008443 name: Spinal deformities namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008444 name: Posterior wedging of vertebral bodies namespace: medical_genetics is_a: HP:0004568 ! Beaking of vertebral bodies [Term] id: HP:0008445 name: Narrow cervical spinal canal namespace: medical_genetics is_a: HP:0003416 ! Spinal canal stenosis [Term] id: HP:0008446 name: Spinal stenosis namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008447 name: Hypoplastic coccygeal vertebrae namespace: medical_genetics is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008448 name: Mild interpedicular narrowing namespace: medical_genetics is_a: HP:0008450 ! Narrow interpedicular space [Term] id: HP:0008449 name: Progressive cervical vertebral spine fusion namespace: medical_genetics is_a: HP:0002949 ! Fused cervical vertebrae [Term] id: HP:0008450 name: Narrow interpedicular space namespace: medical_genetics alt_id: HP:0008426 alt_id: HP:0008474 synonym: "Narrow interpediculate distances" EXACT [] synonym: "Narrowing of interpediculate distances" EXACT [] is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008451 name: Posterior vertebral hypoplasia namespace: medical_genetics is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008452 name: Wafer-thin platyspondyly namespace: medical_genetics is_a: HP:0004565 ! severe platyspondyly [Term] id: HP:0008453 name: Congenital kyphoscoliosis namespace: medical_genetics is_a: HP:0002751 ! Kyphoscoliosis [Term] id: HP:0008454 name: Lumbar kyphosis namespace: medical_genetics is_a: HP:0002808 ! Kyphosis [Term] id: HP:0008455 name: Dysplastic sacrum namespace: medical_genetics is_a: HP:0005107 ! Abnormality of the sacrum [Term] id: HP:0008456 name: C2-C3 subluxation namespace: medical_genetics is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008457 name: Caudal narrowing of interpedicular distances namespace: medical_genetics is_a: HP:0008450 ! Narrow interpedicular space [Term] id: HP:0008458 name: Congenital scoliosis, progressive namespace: medical_genetics is_a: HP:0002650 ! Scoliosis [Term] id: HP:0008459 name: Cervical vertebrae agenesis namespace: medical_genetics is_a: HP:0004587 ! abnormal cervical vertebrae [Term] id: HP:0008460 name: Hypoplastic spinal processes namespace: medical_genetics is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008461 name: Cervical vertebral facet hypoplasia namespace: medical_genetics is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008462 name: Cervical instability namespace: medical_genetics is_a: HP:0005881 ! Spinal instability [Term] id: HP:0008463 name: Central vertebral hypoplasia namespace: medical_genetics is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008464 name: Absent spinous processes of lower thoracic and lumbar vertebrae namespace: medical_genetics is_a: HP:0008516 ! Abnormality of the vertebral spinous processes [Term] id: HP:0008465 name: Absent vertebrae namespace: medical_genetics is_a: HP:0008515 ! Aplasia/Hypoplasia of the vertebrae [Term] id: HP:0008467 name: Thoracic hemivertebrae namespace: medical_genetics is_a: HP:0002937 ! Hemivertebrae [Term] id: HP:0008468 name: Abnormal sacral segmentation namespace: medical_genetics is_a: HP:0003422 ! Vertebral segmentation defects [Term] id: HP:0008469 name: Cervical vertebral dysplasia namespace: medical_genetics is_a: HP:0004587 ! abnormal cervical vertebrae [Term] id: HP:0008470 name: Narrowness of interpediculate distances in lower thoracic regions namespace: medical_genetics is_a: HP:0008450 ! Narrow interpedicular space [Term] id: HP:0008471 name: Vertebral bodies show complete fusion namespace: medical_genetics is_a: HP:0002948 ! Vertebral fusion [Term] id: HP:0008472 name: Prominent protruding coccyx namespace: medical_genetics is_a: HP:0008519 ! Abnormality of the coccyx [Term] id: HP:0008473 name: Narrow anterio-posterior vertebral body diameter namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008475 name: Hypoplastic sacral vertebrae namespace: medical_genetics is_a: HP:0004590 ! Hypoplastic sacrum [Term] id: HP:0008476 name: Irregular sclerotic endplates namespace: medical_genetics alt_id: HP:0004624 synonym: "irregular, dense end plate" EXACT [] is_a: HP:0003301 ! Irregular vertebral endplates [Term] id: HP:0008477 name: Hypoplastic, poorly ossified cervical vertebrae namespace: medical_genetics is_a: HP:0004587 ! abnormal cervical vertebrae [Term] id: HP:0008478 name: Scheuermann-like vertebral changes namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column [Term] id: HP:0008479 name: Hypoplastic vertebral bodies namespace: medical_genetics is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column [Term] id: HP:0008480 name: Cervical spondylosis namespace: medical_genetics is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008481 name: Mild odontoid hypoplasia namespace: medical_genetics is_a: HP:0003311 ! Hypoplastic odontoid process [Term] id: HP:0008482 name: Asymmetry of spinal facet joints namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008483 name: Cervical vertebral bodies with decreased anteroposterior diameter namespace: medical_genetics is_a: HP:0003319 ! Abnormality of the cervical spine [Term] id: HP:0008484 name: Narrow thoracolumbar interpediculate distance namespace: medical_genetics is_a: HP:0008450 ! Narrow interpedicular space [Term] id: HP:0008486 name: Decreasing lumbar vertebrae interpediculate distance namespace: medical_genetics is_a: HP:0008450 ! Narrow interpedicular space [Term] id: HP:0008487 name: Lumbar gibbus deformity namespace: medical_genetics is_a: HP:0003439 ! Thoracolumbar gibbus [Term] id: HP:0008488 name: Anterior rounding of vertebral bodies namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies [Term] id: HP:0008489 name: Spondylolisthesis of l5 on s1 namespace: medical_genetics is_a: HP:0003302 ! Spondylolisthesis [Term] id: HP:0008490 name: Sacral segmentation defects namespace: medical_genetics is_a: HP:0003422 ! Vertebral segmentation defects [Term] id: HP:0008491 name: Premature anterior fontanel closure namespace: medical_genetics is_a: HP:0005448 ! Premature closure of cranial sutures [Term] id: HP:0008492 name: Premature craniosynostosis namespace: medical_genetics is_a: HP:0001363 ! Craniosynostosis [Term] id: HP:0008493 name: Low, sloping forehead namespace: medical_genetics is_a: HP:0000340 ! Sloping forehead [Term] id: HP:0008494 name: Inferior lens subluxation namespace: medical_genetics is_a: HP:0001132 ! Lens subluxation [Term] id: HP:0008495 name: Visual impairment from optic nerve compression namespace: medical_genetics is_a: HP:0007807 ! Optic nerve compression [Term] id: HP:0008496 name: Multiple rows of eyelashes namespace: medical_genetics is_a: HP:0000499 ! Abnormality of the eyelashes [Term] id: HP:0008497 name: Congenital craniofacial dysostosis namespace: medical_genetics is_a: HP:0004439 ! Craniofacial dysostosis [Term] id: HP:0008498 name: No permanent dentition namespace: medical_genetics is_a: HP:0000696 ! delayed eruption of secondary teeth [Term] id: HP:0008499 name: High-grade hypermetropia namespace: medical_genetics is_a: HP:0000540 ! Hypermetropia [Term] id: HP:0008500 name: Sloping, narrow forehead namespace: medical_genetics is_a: HP:0000341 ! Narrow forehead [Term] id: HP:0008501 name: Median cleft lip/palate namespace: medical_genetics synonym: "Medial cleft lip and palate" EXACT [] synonym: "Midline cleft lip/palate" EXACT [] is_a: HP:0000202 ! Cleft lip/palate [Term] id: HP:0008502 name: Slight corneal clouding namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0008503 name: Nonsyndromal hydrocephalus namespace: medical_genetics is_a: HP:0000238 ! Hydrocephalus [Term] id: HP:0008504 name: Moderate neural deafness namespace: medical_genetics is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0008505 name: Bowed and upward slanting eyebrows namespace: medical_genetics is_a: HP:0000582 ! Upslanting palpebral fissures [Term] id: HP:0008506 name: Central retinitis pigmentosa namespace: medical_genetics is_a: HP:0000510 ! Retinitis pigmentosa [Term] id: HP:0008507 name: Static ophthalmoparesis namespace: medical_genetics is_a: HP:0000597 ! Ophthalmoparesis [Term] id: HP:0008509 name: Aged leonine appearance namespace: medical_genetics is_a: HP:0007495 ! Prematurely aged appearance [Term] id: HP:0008510 name: Narrow retinal arterioles namespace: medical_genetics is_a: HP:0000630 ! Abnormality of retinal arteries [Term] id: HP:0008511 name: Central posterior corneal opacities namespace: medical_genetics is_a: HP:0000515 ! Corneal clouding [Term] id: HP:0008512 name: Plagiobrachycephaly namespace: medical_genetics is_a: HP:0000248 ! Brachycephaly [Term] id: HP:0008513 name: Bilateral conductive deafness namespace: medical_genetics is_a: HP:0000367 ! Conductive deafness [Term] id: HP:0008515 name: Aplasia/Hypoplasia of the vertebrae namespace: medical_genetics is_a: HP:0003468 ! Abnormalities of the vertebrae created_by: peter creation_date: 2008-04-04T02:30:00Z [Term] id: HP:0008516 name: Abnormality of the vertebral spinous processes namespace: medical_genetics is_a: HP:0003312 ! Abnormal form of the vertebral bodies created_by: peter creation_date: 2008-04-04T02:31:00Z [Term] id: HP:0008517 name: Aplasia/Hypoplasia of the sacrum namespace: medical_genetics is_a: HP:0005107 ! Abnormality of the sacrum is_a: HP:0008518 ! Aplasia/Hypoplasia involving the vertebral column created_by: peter creation_date: 2008-04-04T02:32:00Z [Term] id: HP:0008518 name: Aplasia/Hypoplasia involving the vertebral column namespace: medical_genetics is_a: HP:0000925 ! Abnormality of the vertebral column is_a: HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton created_by: peter creation_date: 2008-04-04T02:33:00Z [Term] id: HP:0008519 name: Abnormality of the coccyx namespace: medical_genetics alt_id: HP:0002830 is_a: HP:0000377 ! Abnormal form of ears is_a: HP:0002644 ! Abnormality of the pelvis is_a: HP:0005107 ! Abnormality of the sacrum created_by: peter creation_date: 2008-04-04T02:41:00Z [Term] id: HP:0008520 name: Sensorineural hearing loss, profound congenital namespace: medical_genetics is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0008521 name: Hearing loss, profound congenital sensorineural namespace: medical_genetics alt_id: HP:0008558 synonym: "Hearing loss, sensorineural, profound congenital" EXACT [] is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0008522 name: High-frequency deafness namespace: medical_genetics is_a: HP:0005101 ! High-frequency hearing loss [Term] id: HP:0008523 name: Pits in posterior aspect of ear helices namespace: medical_genetics is_a: HP:0000380 ! Abnormal helices [Term] id: HP:0008524 name: Chronic ear infection namespace: medical_genetics is_a: HP:0000388 ! Otitis media [Term] id: HP:0008525 name: Congenital conductive deafness namespace: medical_genetics is_a: HP:0000367 ! Conductive deafness [Term] id: HP:0008526 name: Vestibular areflexia, complete namespace: medical_genetics is_a: HP:0007670 ! Abnormal vestibuloocular reflex [Term] id: HP:0008527 name: Congenital sensorineural hearing loss namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008528 name: Long hairs growing from helix of pinna namespace: medical_genetics is_a: HP:0000380 ! Abnormal helices [Term] id: HP:0008529 name: Absent middle ear reflexes namespace: medical_genetics is_a: HP:0004454 ! abnormal middle ear reflexes [Term] id: HP:0008530 name: Bilateral sensorineural deafness namespace: medical_genetics is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0008531 name: Simple, cup-shaped ears namespace: medical_genetics is_a: HP:0000378 ! Cup-shaped ears [Term] id: HP:0008532 name: Sensorineural deafness, late-onset namespace: medical_genetics is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0008534 name: Hearing loss, sensorineural, severe to profound namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008535 name: Small, posteriorly rotated ears namespace: medical_genetics is_a: HP:0000358 ! Posteriorly rotated ears [Term] id: HP:0008536 name: Bilateral conductive hearing loss namespace: medical_genetics is_a: HP:0000405 ! Hearing loss, conductive [Term] id: HP:0008537 name: Cleft at the superior portion of the pinna namespace: medical_genetics is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0008538 name: Deafness, sensorineural, profound namespace: medical_genetics is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0008539 name: Bilateral nerve deafness namespace: medical_genetics is_a: HP:0001753 ! Nerve deafness [Term] id: HP:0008540 name: Hearing loss, sensorineural, bilateral profound congenital namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008541 name: Superiorly displaced ears namespace: medical_genetics is_a: HP:0000357 ! Abnormal location of ears [Term] id: HP:0008542 name: Low-frequency hearing loss namespace: medical_genetics is_a: HP:0000365 ! Hearing loss [Term] id: HP:0008543 name: Hearing loss, congenital sensorineural namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008544 name: Abnormally folded helix namespace: medical_genetics is_a: HP:0000380 ! Abnormal helices [Term] id: HP:0008545 name: Congenital perceptive deafness namespace: medical_genetics is_a: HP:0001728 ! Congenital deafness [Term] id: HP:0008547 name: Absent external auditory canals namespace: medical_genetics is_a: HP:0000372 ! Auditory canal abnormality [Term] id: HP:0008549 name: Progressive cartilaginous ossification of pinnae namespace: medical_genetics is_a: HP:0005103 ! Cartilaginous ossification of pinnae [Term] id: HP:0008550 name: Bilateral microtia namespace: medical_genetics is_a: HP:0008772 ! Aplasia/Hypoplasia of the outer ear [Term] id: HP:0008551 name: Underdeveloped ears namespace: medical_genetics is_a: HP:0008772 ! Aplasia/Hypoplasia of the outer ear [Term] id: HP:0008552 name: Preauricular tag/pit namespace: medical_genetics is_a: HP:0000392 ! Preauricular pit [Term] id: HP:0008553 name: Hearing loss, sensorineural, due to auditory neuropathy namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008554 name: Cochlear malformation namespace: medical_genetics def: "A cochlear malformation may include a membranous abnormality, a bony abnormality, or a combination of the two." [HPO:curators] is_a: HP:0000375 ! Abnormality of cochlea [Term] id: HP:0008555 name: Absent vestibular function namespace: medical_genetics is_a: HP:0001756 ! Vestibular hypofunction [Term] id: HP:0008556 name: Bilateral congenital profound sensorineural hearing loss namespace: medical_genetics is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0008557 name: Neonatal cystic lesions of the pinnae namespace: medical_genetics is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008559 name: Hypoplastic superior helix namespace: medical_genetics is_a: HP:0008589 ! Hypoplastic helices [Term] id: HP:0008560 name: Severe hearing defect namespace: medical_genetics is_a: HP:0000365 ! Hearing loss [Term] id: HP:0008562 name: Poorly formed pinnae namespace: medical_genetics is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0008563 name: Profound congenital deafness namespace: medical_genetics is_a: HP:0001728 ! Congenital deafness [Term] id: HP:0008564 name: External auditory canal stenosis/atresia namespace: medical_genetics is_a: HP:0000402 ! Stenotic external auditory canal [Term] id: HP:0008565 name: Profound sensorineural hearing loss namespace: medical_genetics is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0008568 name: Vestibular areflexia namespace: medical_genetics is_a: HP:0007670 ! Abnormal vestibuloocular reflex [Term] id: HP:0008569 name: Small, malformed ears namespace: medical_genetics is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0008570 name: Hypoplastic, overfolded helices namespace: medical_genetics is_a: HP:0000396 ! Overfolded helices [Term] id: HP:0008571 name: Profound, congenital, neurosensory, nonsyndromal deafness namespace: medical_genetics is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0008572 name: External ear malformation namespace: medical_genetics is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008573 name: Progressive, low-frequency sensorineural hearing loss namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008574 name: Severe early sensorineural hearing loss namespace: medical_genetics is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0008575 name: Preauricular tag, isolated (skin covered and composed of elastic cartilage namespace: medical_genetics is_a: HP:0000384 ! Preauricular skin tag [Term] id: HP:0008576 name: Hearing loss, sensorineural, moderate-severe namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008577 name: Poorly folded helices namespace: medical_genetics is_a: HP:0000380 ! Abnormal helices [Term] id: HP:0008578 name: Multiple preauricular ear tags and pits namespace: medical_genetics is_a: HP:0000384 ! Preauricular skin tag [Term] id: HP:0008579 name: Deafness, bilateral sensorineural, high frequency namespace: medical_genetics is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0008580 name: Minor malformation of the auricles namespace: medical_genetics is_a: HP:0004465 ! Malformation of auricle [Term] id: HP:0008581 name: Early conductive hearing loss namespace: medical_genetics is_a: HP:0000405 ! Hearing loss, conductive [Term] id: HP:0008583 name: Unfolded superior helices namespace: medical_genetics is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0008584 name: Progressive high-frequency hearing loss namespace: medical_genetics alt_id: HP:0008597 def: "Progressive loss of hearing in high frequency ranges." [HPO:curators] synonym: "Progressive high frequency hearing loss" EXACT [] is_a: HP:0005101 ! High-frequency hearing loss [Term] id: HP:0008585 name: Bilateral sensorineural hearing loss namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008586 name: Hypoplastic cochlea namespace: medical_genetics is_a: HP:0008774 ! Aplasia/Hypoplasia of the inner ear [Term] id: HP:0008587 name: Mild neurosensory hearing loss namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008588 name: Slit-like openings of the exterior auditory meatus namespace: medical_genetics is_a: HP:0000413 ! External auditory canal atresia [Term] id: HP:0008589 name: Hypoplastic helices namespace: medical_genetics is_a: HP:0008772 ! Aplasia/Hypoplasia of the outer ear [Term] id: HP:0008590 name: Progressive childhood hearing loss namespace: medical_genetics is_a: HP:0001730 ! Progressive hearing loss [Term] id: HP:0008591 name: Congenital conductive hearing loss namespace: medical_genetics is_a: HP:0000405 ! Hearing loss, conductive [Term] id: HP:0008592 name: Bilateral progressive sensorineural hearing loss namespace: medical_genetics is_a: HP:0000408 ! Hearing loss, sensorineural, progressive [Term] id: HP:0008593 name: Prominent antitragus namespace: medical_genetics is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0008594 name: Variable external ear malformation namespace: medical_genetics is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008595 name: Absence of acoustic middle ear muscle reflexes namespace: medical_genetics is_a: HP:0004454 ! abnormal middle ear reflexes [Term] id: HP:0008596 name: Sensorineural deafness, postlingual, progressive namespace: medical_genetics is_a: HP:0000408 ! Hearing loss, sensorineural, progressive [Term] id: HP:0008598 name: Conductive hearing loss, mild namespace: medical_genetics is_a: HP:0000405 ! Hearing loss, conductive [Term] id: HP:0008599 name: Late sensorineural hearing loss namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008600 name: Low-set, cup-shaped ears namespace: medical_genetics is_a: HP:0000378 ! Cup-shaped ears [Term] id: HP:0008601 name: Hearing loss, sensorineural, bilateral, progressive namespace: medical_genetics is_a: HP:0000408 ! Hearing loss, sensorineural, progressive [Term] id: HP:0008602 name: Poorly defined conchae namespace: medical_genetics is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0008603 name: Congenital severe sensorineural hearing loss namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008604 name: Transverse earlobe creases namespace: medical_genetics is_a: HP:0000363 ! Abnormality of ear lobes [Term] id: HP:0008605 name: Unilateral external ear deformity namespace: medical_genetics is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008606 name: Supraauricular sinuses namespace: medical_genetics is_a: HP:0000383 ! Abnormality of periauricular region [Term] id: HP:0008607 name: Progressive conductive deafness namespace: medical_genetics is_a: HP:0000367 ! Conductive deafness [Term] id: HP:0008608 name: Hypertrophic auricular cartilage namespace: medical_genetics is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008609 name: Middle ear malformations namespace: medical_genetics is_a: HP:0000370 ! Abnormality of the middle ear [Term] id: HP:0008610 name: Infantile sensorineural hearing loss namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008611 name: Sensorineural hearing loss, mild to moderate namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008612 name: Hearing loss, congenital, sensorineural, moderate-severe namespace: medical_genetics alt_id: HP:0008546 synonym: "Hearing loss, congenital sensorineural, moderate-severe" EXACT [] is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008613 name: Isolated nonprogressive sensorineural hearing loss limited to the 1,500-8,000 hz range namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008614 name: Hearing loss, late-onset sensorineural, mild-to moderate namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008615 name: Late onset sensorineural deafness namespace: medical_genetics is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0008616 name: Small/rudimentary tragus, antitragus and lobule namespace: medical_genetics is_a: HP:0000356 ! Abnormality of the outer ear [Term] id: HP:0008617 name: Progressive bilateral sensorineural hearing loss namespace: medical_genetics is_a: HP:0000408 ! Hearing loss, sensorineural, progressive [Term] id: HP:0008619 name: Hearing loss, sensorineural, bilateral namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008620 name: Congenital sensorineural deafness namespace: medical_genetics alt_id: HP:0008561 synonym: "Congenital neurosensory deafness" EXACT [] is_a: HP:0000374 ! Sensorineural deafness [Term] id: HP:0008621 name: Hypoplastic pinnae namespace: medical_genetics alt_id: HP:0008618 synonym: "Hypoplastic ears" EXACT [] is_a: HP:0008772 ! Aplasia/Hypoplasia of the outer ear [Term] id: HP:0008622 name: Recurrent otitis media in infancy and childhood namespace: medical_genetics is_a: HP:0000403 ! Recurrent otitis media [Term] id: HP:0008623 name: Susceptibility to otitis media namespace: medical_genetics is_a: HP:0000388 ! Otitis media [Term] id: HP:0008624 name: Recurrent otitis media in infancy namespace: medical_genetics is_a: HP:0000403 ! Recurrent otitis media [Term] id: HP:0008625 name: Severe sensorineural hearing loss namespace: medical_genetics is_a: HP:0000407 ! Hearing loss, sensorineural [Term] id: HP:0008626 name: Congenital bilateral symmetric subtotal external auditory canal atresia namespace: medical_genetics is_a: HP:0000413 ! External auditory canal atresia [Term] id: HP:0008627 name: Underdeveloped superior helices namespace: medical_genetics is_a: HP:0000377 ! Abnormal form of ears [Term] id: HP:0008628 name: Stapedial abnormalities namespace: medical_genetics is_a: HP:0000359 ! Abnormality of the inner ear [Term] id: HP:0008629 name: Pulsatile tinnitus namespace: medical_genetics is_a: HP:0000360 ! Tinnitus [Term] id: HP:0008631 name: Ureteral agenesis/dysgenesis namespace: medical_genetics is_a: HP:0000069 ! Abnormality of the ureters [Term] id: HP:0008632 name: Underdeveloped penis namespace: medical_genetics is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0008633 name: Absent gonadal tissue namespace: medical_genetics is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008634 name: Chronic hereditary nephritis namespace: medical_genetics is_a: HP:0000123 ! Nephritis [Term] id: HP:0008635 name: Hypertrophic urinary bladder namespace: medical_genetics is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0008636 name: Lobular glomerulopathy namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0008637 name: Rudimentary uterus and vagina namespace: medical_genetics is_a: HP:0001154 ! Rudimentary uterus [Term] id: HP:0008638 name: Terminal nephrotic syndrome namespace: medical_genetics is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0008639 name: Gonadal hypoplasia namespace: medical_genetics is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008640 name: Congenital macroorchidism namespace: medical_genetics is_a: HP:0000053 ! Macroorchidism [Term] id: HP:0008641 name: Oligomeganephronic renal hypoplasia namespace: medical_genetics is_a: HP:0000089 ! Renal hypoplasia [Term] id: HP:0008642 name: Benign uterine leiomyomas namespace: medical_genetics is_a: HP:0000131 ! Uterine leiomyomata [Term] id: HP:0008643 name: Nephroblastomatosis namespace: medical_genetics is_a: HP:0002667 ! Nephroblastoma (Wilms tumor) [Term] id: HP:0008644 name: Polycystic ovary syndrome in some namespace: medical_genetics is_a: HP:0000147 ! polycystic ovaries [Term] id: HP:0008645 name: Adult polycystic kidney disease, type iii namespace: medical_genetics is_a: HP:0004740 ! adult onset polycystic kidney [Term] id: HP:0008646 name: Loss of renal function namespace: medical_genetics is_a: HP:0000087 ! Impaired renal function [Term] id: HP:0008647 name: Pubertal developmental failure in females namespace: medical_genetics is_a: HP:0008197 ! Absence of pubertal development [Term] id: HP:0008648 name: Anteriorly displaced urethral meatus namespace: medical_genetics is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0008651 name: Uric acid urolithiasis independent of gout namespace: medical_genetics is_a: HP:0000791 ! Uric acid urolithiasis [Term] id: HP:0008652 name: Impotence due to autonomic dysfunction namespace: medical_genetics is_a: HP:0002387 ! Autonomic dysfunction [Term] id: HP:0008653 name: Necrotizing glomerulonephritis namespace: medical_genetics is_a: HP:0000099 ! Glomerulonephritis [Term] id: HP:0008654 name: Tubulointerstitial nephropathy namespace: medical_genetics is_a: HP:0001969 ! Tubulointerstitial abnormality [Term] id: HP:0008655 name: Absent or rudimentary fallopian tubes namespace: medical_genetics is_a: HP:0008697 ! Rudimentary fallopian tubes [Term] id: HP:0008656 name: Incomplete male pseudohermaphroditism namespace: medical_genetics is_a: HP:0000037 ! Male pseudohermaphroditism [Term] id: HP:0008657 name: Sclerocystic ovaries namespace: medical_genetics is_a: HP:0000146 ! Cystic abnormalities of the ovaries [Term] id: HP:0008659 name: Multiple small medullary renal cysts namespace: medical_genetics is_a: HP:0005562 ! Multiple renal cysts [Term] id: HP:0008660 name: Renotubular dysgenesis namespace: medical_genetics is_a: HP:0000091 ! Abnormality of the renal tubules [Term] id: HP:0008661 name: Urethral stenosis namespace: medical_genetics is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0008662 name: Labia minora hypertrophy namespace: medical_genetics is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0008663 name: Congenital renal sarcoma namespace: medical_genetics is_a: HP:0005933 ! Kidney cancer [Term] id: HP:0008664 name: Urethral sphincter sclerosis namespace: medical_genetics is_a: HP:0008661 ! Urethral stenosis [Term] id: HP:0008665 name: Hypertrophic clitoris namespace: medical_genetics alt_id: HP:0008728 synonym: "Clitoral hypertrophy" EXACT [] is_a: HP:0000056 ! Abnormality of the clitoris [Term] id: HP:0008666 name: Impaired histidine renal tubular absorption namespace: medical_genetics is_a: HP:0000124 ! Renal tubular dysfunction [Term] id: HP:0008668 name: 46,xy gonadal dysgenesis namespace: medical_genetics is_a: HP:0000133 ! Gonadal dysgenesis [Term] id: HP:0008669 name: Impaired spermatogenesis namespace: medical_genetics is_a: HP:0000022 ! Abnormality of male internal genitalia [Term] id: HP:0008670 name: Partial vaginal septum namespace: medical_genetics is_a: HP:0001153 ! Septate vagina [Term] id: HP:0008671 name: Rapid loss of renal function namespace: medical_genetics is_a: HP:0000087 ! Impaired renal function [Term] id: HP:0008672 name: Calcium oxalate nephrolithiasis namespace: medical_genetics is_a: HP:0004724 ! calcium nephrolithiasis [Term] id: HP:0008673 name: Infantile polycystic kidneys namespace: medical_genetics is_a: HP:0000113 ! Polycystic kidney [Term] id: HP:0008674 name: No secondary sexual characteristics at puberty namespace: medical_genetics is_a: HP:0008187 ! Absence of secondary sex characteristics [Term] id: HP:0008675 name: Enlarged polycystic ovaries namespace: medical_genetics is_a: HP:0000147 ! polycystic ovaries [Term] id: HP:0008676 name: Congenital megaloureters namespace: medical_genetics is_a: HP:0000069 ! Abnormality of the ureters [Term] id: HP:0008677 name: Congenital nephrosis namespace: medical_genetics is_a: HP:0000801 ! Nephrosis [Term] id: HP:0008678 name: Renal hypoplasia/aplasia namespace: medical_genetics alt_id: HP:0008701 synonym: "Renal aplasia/hypoplasia" EXACT [] is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0008680 name: Renal agenesis/dysgenesis namespace: medical_genetics is_a: HP:0000104 ! Renal agenesis [Term] id: HP:0008681 name: Mild urinary incontinence namespace: medical_genetics is_a: HP:0000020 ! Urinary incontinence [Term] id: HP:0008682 name: Renal tubular necrosis namespace: medical_genetics is_a: HP:0000091 ! Abnormality of the renal tubules [Term] id: HP:0008683 name: Enlarged labia minora namespace: medical_genetics is_a: HP:0000065 ! Labial hypertrophy [Term] id: HP:0008684 name: Absent-hypoplastic uterus namespace: medical_genetics is_a: HP:0000013 ! Hypoplastic uterus [Term] id: HP:0008685 name: Ambiguous external genitalia at birth namespace: medical_genetics is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0008687 name: Hypoplastic prostate namespace: medical_genetics is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0008688 name: Genitourinary dysplasia namespace: medical_genetics is_a: HP:0000119 ! Genitourinary abnormality [Term] id: HP:0008689 name: Bilateral cryptorchidism namespace: medical_genetics alt_id: HP:0008686 synonym: "Cryptorchidism, bilateral" EXACT [] is_a: HP:0000028 ! Cryptorchidism [Term] id: HP:0008690 name: Ambiguous genitalia due to virilization namespace: medical_genetics is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0008691 name: Solitary bladder diverticulum namespace: medical_genetics is_a: HP:0000015 ! Bladder diverticula [Term] id: HP:0008693 name: Ambiguous external genitalia namespace: medical_genetics is_a: HP:0000062 ! Ambiguous genitalia [Term] id: HP:0008694 name: Hypertrophic labia minora namespace: medical_genetics is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0008695 name: Transient nephrotic syndrome namespace: medical_genetics is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0008696 name: Bilateral renal hamartomas namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0008697 name: Rudimentary fallopian tubes namespace: medical_genetics is_a: HP:0000008 ! Abnormality of female internal genitalia [Term] id: HP:0008698 name: Vertical vaginal septum namespace: medical_genetics is_a: HP:0001153 ! Septate vagina [Term] id: HP:0008699 name: Polycystic kidneys, potter type i namespace: medical_genetics is_a: HP:0000113 ! Polycystic kidney [Term] id: HP:0008700 name: Calcium oxalate urolithiasis namespace: medical_genetics is_a: HP:0004724 ! calcium nephrolithiasis [Term] id: HP:0008702 name: Absent internal genitalia namespace: medical_genetics is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008703 name: Gonadal calcification namespace: medical_genetics is_a: HP:0000812 ! Abnormal internal genitalia [Term] id: HP:0008705 name: Ureteral triplication namespace: medical_genetics is_a: HP:0000073 ! Ureteral duplication [Term] id: HP:0008706 name: Distal urethral duplication namespace: medical_genetics is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0008707 name: Abnormal or absent scrotum namespace: medical_genetics is_a: HP:0000045 ! Morphological abnormality of the scrotum [Term] id: HP:0008708 name: Partial development of the penile shaft namespace: medical_genetics is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0008709 name: Congenital absence of the vagina namespace: medical_genetics is_a: HP:0003250 ! Absent vagina [Term] id: HP:0008710 name: Small external genitalia namespace: medical_genetics is_a: HP:0000811 ! Abnormal external genitalia [Term] id: HP:0008711 name: Benign prostatic hyperplasia namespace: medical_genetics is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0008712 name: Renal malformation namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0008713 name: Genitourinary tract malformation namespace: medical_genetics is_a: HP:0000119 ! Genitourinary abnormality [Term] id: HP:0008714 name: Ureterovesical stenosis namespace: medical_genetics is_a: HP:0000071 ! Ureteral stenosis [Term] id: HP:0008715 name: Testicular dysgenesis namespace: medical_genetics is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0008716 name: Urethrovaginal fistulae namespace: medical_genetics is_a: HP:0004320 ! Vaginal fistula [Term] id: HP:0008717 name: Unilateral renal atrophy namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys [Term] id: HP:0008718 name: Unilateral renal dysplasia namespace: medical_genetics is_a: HP:0000110 ! Renal dysplasia [Term] id: HP:0008720 name: Primary testicular failure namespace: medical_genetics is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0008721 name: Hypoplastic male genitalia namespace: medical_genetics is_a: HP:0000050 ! Hypoplastic genitalia [Term] id: HP:0008722 name: Urethral diverticulum namespace: medical_genetics is_a: HP:0000795 ! Abnormality of the urethra [Term] id: HP:0008723 name: Xy female gonadal dysgenesis namespace: medical_genetics is_a: HP:0000133 ! Gonadal dysgenesis [Term] id: HP:0008724 name: Hypoplastic ovary namespace: medical_genetics is_a: HP:0000137 ! Abnormality of the ovaries [Term] id: HP:0008725 name: Oxalate nephrolithiasis namespace: medical_genetics is_a: HP:0000787 ! Kidney stones [Term] id: HP:0008726 name: Hypoplastic vagina namespace: medical_genetics is_a: HP:0000142 ! Abnormalities of the vagina [Term] id: HP:0008727 name: Idiopathic nephrotic syndrome namespace: medical_genetics is_a: HP:0000100 ! Nephrotic syndrome [Term] id: HP:0008729 name: Absence of labia majora namespace: medical_genetics is_a: HP:0000058 ! Abnormality of the labia [Term] id: HP:0008730 name: Female external genitalia in males namespace: medical_genetics alt_id: HP:0008719 def: "The presence of female external genitalia in a person with a male karyotype." [HPO:curators] synonym: "Males with female external genitalia" EXACT [] is_a: HP:0000032 ! Abnormality of male external genitalia [Term] id: HP:0008731 name: Poor bladder function namespace: medical_genetics is_a: HP:0000014 ! Abnormality of the bladder [Term] id: HP:0008732 name: Renal hypophosphatemia namespace: medical_genetics is_a: HP:0002148 ! Hypophosphatemia [Term] id: HP:0008733 name: Dysplastic testes namespace: medical_genetics is_a: HP:0000035 ! Abnormality of the testis [Term] id: HP:0008734 name: Decreased testicular size namespace: medical_genetics alt_id: HP:0000043 synonym: "Hypoplastic testes" EXACT [] synonym: "Small testes" EXACT [] synonym: "Testicular hypoplasia" EXACT [] is_a: HP:0000035 ! Abnormality of the testis is_a: HP:0000050 ! Hypoplastic genitalia [Term] id: HP:0008735 name: Hypoplastic, bicornuate uterus namespace: medical_genetics is_a: HP:0000813 ! Bicornuate uterus [Term] id: HP:0008736 name: Hypoplasia of penis namespace: medical_genetics is_a: HP:0000036 ! Abnormality of the penis [Term] id: HP:0008737 name: Nonsyndromal diffuse cystic renal dysplasia namespace: medical_genetics is_a: HP:0000800 ! Cystic renal dysplasia [Term] id: HP:0008738 name: Partially duplicated displaced kidney namespace: medical_genetics is_a: HP:0000075 ! Renal duplication [Term] id: HP:0008739 name: Labial pseudohypertrophy namespace: medical_genetics is_a: HP:0000065 ! Labial hypertrophy [Term] id: HP:0008740 name: Longitudinal vaginal septum namespace: medical_genetics is_a: HP:0001153 ! Septate vagina [Term] id: HP:0008741 name: Hypertension due to renal artery hyperplasia namespace: medical_genetics is_a: HP:0008776 ! Abnormality of the renal artery [Term] id: HP:0008742 name: Prominent prostate median bar namespace: medical_genetics is_a: HP:0008775 ! Abnormality of the prostate [Term] id: HP:0008743 name: Coronal hypospadias namespace: medical_genetics is_a: HP:0000047 ! Hypospadias [Term] id: HP:0008744 name: Abnormal aryepiglottic folds namespace: medical_genetics is_a: HP:0005483 ! Abnormality of the epiglottis [Term] id: HP:0008745 name: Vocal cord paresis in severe cases namespace: medical_genetics is_a: HP:0001604 ! Vocal cord paresis [Term] id: HP:0008746 name: Bifid or hypoplastic epiglottis namespace: medical_genetics is_a: HP:0005349 ! Hypoplasia of the epiglottis [Term] id: HP:0008747 name: Cartilaginous ossification of larynx namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008749 name: Hypoplastic larynx namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008750 name: Laryngeal atresia namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008751 name: Laryngeal cleft namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008752 name: Laryngeal cartilage malformations namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008753 name: Absent/abnormal epiglottis namespace: medical_genetics is_a: HP:0005483 ! Abnormality of the epiglottis [Term] id: HP:0008754 name: Laryngeal calcifications namespace: medical_genetics alt_id: HP:0008748 synonym: "Laryngeal calcification" EXACT [] is_a: HP:0001600 ! Abnormality of the larynx [Term] id: HP:0008755 name: Laryngotracheomalacia namespace: medical_genetics is_a: HP:0002779 ! Tracheomalacia [Term] id: HP:0008756 name: Bowing of the vocal cords namespace: medical_genetics is_a: HP:0008777 ! Abnormality of the vocal cords [Term] id: HP:0008757 name: Unilateral paralysis of the vocal cord namespace: medical_genetics is_a: HP:0001603 ! Weakness of the vocal cords [Term] id: HP:0008758 name: Stereotypical motor behaviors namespace: medical_genetics is_a: HP:0000733 ! Stereotyped, repetitive behaviour [Term] id: HP:0008759 name: Perseverative behavior namespace: medical_genetics is_a: HP:0000733 ! Stereotyped, repetitive behaviour [Term] id: HP:0008760 name: Violent behavior namespace: medical_genetics is_a: HP:0006919 ! Abnormal aggressive, impulsive or violent behavior [Term] id: HP:0008762 name: Repetitive compulsive behavior namespace: medical_genetics is_a: HP:0000733 ! Stereotyped, repetitive behaviour [Term] id: HP:0008763 name: No social interaction namespace: medical_genetics is_a: HP:0000735 ! Impaired social interactions [Term] id: HP:0008764 name: Hyperactivity in 50% of patients namespace: medical_genetics is_a: HP:0000752 ! Hyperactivity [Term] id: HP:0008765 name: Auditory hallucinations namespace: medical_genetics is_a: HP:0000738 ! Hallucinations [Term] id: HP:0008766 name: Emotional lability in 50% of patients namespace: medical_genetics is_a: HP:0000712 ! Emotional lability [Term] id: HP:0008767 name: Self-mutilation of tongue and lips due to involuntary movements namespace: medical_genetics is_a: HP:0000742 ! Self-mutilation [Term] id: HP:0008768 name: Inappropriate sexual behavior namespace: medical_genetics is_a: HP:0000719 ! Inappropriate behavior [Term] id: HP:0008769 name: Dull facial expression namespace: medical_genetics is_a: HP:0004673 ! Decreased facial expression [Term] id: HP:0008770 name: Obsessive-compulsive trait namespace: medical_genetics alt_id: HP:0008761 def: "The presence of one or more obsessive-compulsive personality traits. Obsessions refer to persistent intrusive thoughts, and compulsions to intrusive behaviors, which the affected person experiences as involuntary, senseless, or repugnant." [HPO:curators] synonym: "Obsessive-compulsive traits" EXACT [] is_a: HP:0000722 ! Obsessive-compulsive disorder [Term] id: HP:0008771 name: Aplasia/Hypoplasia affecting the ears namespace: medical_genetics is_a: HP:0000598 ! Abnormality of the ears created_by: peter creation_date: 2008-04-04T05:44:00Z [Term] id: HP:0008772 name: Aplasia/Hypoplasia of the outer ear namespace: medical_genetics def: "Absence, underdevelopment, or incomplete development of all or part of the outer ear." [HPO:curators] is_a: HP:0000356 ! Abnormality of the outer ear is_a: HP:0008771 ! Aplasia/Hypoplasia affecting the ears created_by: peter creation_date: 2008-04-04T05:45:00Z [Term] id: HP:0008773 name: Aplasia/Hypoplasia of the middle ear namespace: medical_genetics alt_id: HP:0008533 alt_id: HP:0008548 def: "Absence, underdevelopment, or incomplete development of all or part of the middle ear." [HPO:curators] synonym: "Hypoplastic/aplastic middle ear structures" EXACT [] synonym: "Middle ear hypoplasia/aplasia" EXACT [] is_a: HP:0000370 ! Abnormality of the middle ear is_a: HP:0008771 ! Aplasia/Hypoplasia affecting the ears created_by: peter creation_date: 2008-04-04T05:47:00Z [Term] id: HP:0008774 name: Aplasia/Hypoplasia of the inner ear namespace: medical_genetics is_a: HP:0000359 ! Abnormality of the inner ear is_a: HP:0008771 ! Aplasia/Hypoplasia affecting the ears created_by: peter creation_date: 2008-04-04T05:48:00Z [Term] id: HP:0008775 name: Abnormality of the prostate namespace: medical_genetics is_a: HP:0000022 ! Abnormality of male internal genitalia created_by: peter creation_date: 2008-04-04T06:01:00Z [Term] id: HP:0008776 name: Abnormality of the renal artery namespace: medical_genetics is_a: HP:0000077 ! Abnormality of the kidneys created_by: peter creation_date: 2008-04-04T06:13:00Z [Term] id: HP:0008777 name: Abnormality of the vocal cords namespace: medical_genetics is_a: HP:0001600 ! Abnormality of the larynx created_by: peter creation_date: 2008-04-04T06:18:00Z [Term] id: HP:0008779 name: Hypoplastic femoral neck namespace: medical_genetics is_a: HP:0005613 ! Aplasia/hypoplasia of the femur [Term] id: HP:0008780 name: Congenital bilateral hip dislocation namespace: medical_genetics is_a: HP:0001374 ! Congenital hip dislocation [Term] id: HP:0008781 name: Short, wide femoral neck namespace: medical_genetics alt_id: HP:0003372 alt_id: HP:0008836 def: "An abnormally short and wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:curators] synonym: "Broad, short femoral neck" EXACT [] synonym: "Short, broad femoral necks" EXACT [] is_a: HP:0003032 ! Short femoral neck is_a: HP:0006429 ! Broad femoral neck [Term] id: HP:0008782 name: Wide, deformed femoral neck namespace: medical_genetics is_a: HP:0006429 ! Broad femoral neck [Term] id: HP:0008783 name: Enlarged, irregular proximal femoral metaphyses namespace: medical_genetics is_a: HP:0003411 ! Irregular proximal femoral metaphyses [Term] id: HP:0008784 name: Flat, wide proximal femoral epiphyses namespace: medical_genetics is_a: HP:0006393 ! Flat proximal femoral epiphyses [Term] id: HP:0008785 name: Delayed ossification of pubic rami namespace: medical_genetics is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008786 name: Irregular, lacy iliac crests namespace: medical_genetics alt_id: HP:0008825 def: "Lace-like rregularity of the iliac crest." [HPO:curators] synonym: "Irregular lacy iliac crest" EXACT [] is_a: HP:0003796 ! Irregular iliac crest [Term] id: HP:0008787 name: Congenital hip dysplasia namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0008788 name: Delayed pubic bone ossification namespace: medical_genetics is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008789 name: Cone-shaped capital femoral epiphyses namespace: medical_genetics is_a: HP:0006361 ! Irregular femoral epiphyses [Term] id: HP:0008790 name: Widened proximal femoral metaphyses namespace: medical_genetics is_a: HP:0006417 ! Broad femoral metaphyses [Term] id: HP:0008791 name: Small flattened capital femoral epiphyses namespace: medical_genetics is_a: HP:0003370 ! Flattened capital femoral epiphyses [Term] id: HP:0008792 name: Small flat capital femoral epiphyses namespace: medical_genetics is_a: HP:0003090 ! Small capital femoral epiphyses [Term] id: HP:0008794 name: Dysplastic iliac wings namespace: medical_genetics is_a: HP:0003174 ! Abnormality of the ischial bones [Term] id: HP:0008795 name: Delayed mineralization of pubic bone namespace: medical_genetics is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008796 name: Externally rotated hips namespace: medical_genetics is_a: HP:0003783 ! Externally rotated/abducted legs [Term] id: HP:0008797 name: Early ossification of capital femoral epiphyses namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0008798 name: Widened, small sacrosciatic notches namespace: medical_genetics is_a: HP:0003185 ! Small sacroiliac notches [Term] id: HP:0008800 name: Limited hip movement namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0008801 name: Lesser trochanter hypoplasia namespace: medical_genetics is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0008802 name: Hypoplastic femoral head namespace: medical_genetics is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0009108 ! Aplasia/Hypoplasia involving the femoral head and neck [Term] id: HP:0008803 name: Narrow sacroiliac notch namespace: medical_genetics is_a: HP:0003185 ! Small sacroiliac notches [Term] id: HP:0008804 name: Broad femoral heads and necks namespace: medical_genetics is_a: HP:0006429 ! Broad femoral neck [Term] id: HP:0008805 name: Narrowed greater sciatic notch namespace: medical_genetics is_a: HP:0003375 ! Narrow sacrosciatic notches [Term] id: HP:0008806 name: Small, irregular proximal femoral epiphyses namespace: medical_genetics is_a: HP:0003411 ! Irregular proximal femoral metaphyses [Term] id: HP:0008807 name: Acetabular dysplasia namespace: medical_genetics alt_id: HP:0008799 synonym: "Dysplastic acetabulae" EXACT [] is_a: HP:0003170 ! Acetabular abnormality [Term] id: HP:0008808 name: High, narrow iliac wings namespace: medical_genetics alt_id: HP:0008778 def: "A high and narrow appearance of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally)." [HPO:curators] synonym: "Narrow, high iliac wings" EXACT [] is_a: HP:0002868 ! Narrow iliac wings [Term] id: HP:0008810 name: Limited hip abduction/extension namespace: medical_genetics is_a: HP:0003184 ! Decreased hip abduction [Term] id: HP:0008811 name: Flattened femoral epiphyses namespace: medical_genetics is_a: HP:0006499 ! Abnormality of femoral epiphyses [Term] id: HP:0008812 name: Flattened femoral heads namespace: medical_genetics is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0008813 name: Narrow sciatic notches namespace: medical_genetics is_a: HP:0003375 ! Narrow sacrosciatic notches [Term] id: HP:0008814 name: Broad, hypoplastic ischia namespace: medical_genetics is_a: HP:0003175 ! Hypoplastic ischia [Term] id: HP:0008815 name: Narrow sacroiliac notches in infancy namespace: medical_genetics is_a: HP:0003185 ! Small sacroiliac notches [Term] id: HP:0008816 name: Hypoplastic pelvic bones namespace: medical_genetics is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis [Term] id: HP:0008817 name: Aplastic pubic bones namespace: medical_genetics is_a: HP:0003173 ! Hypoplastic pubic bones [Term] id: HP:0008818 name: Large, flared iliac wings namespace: medical_genetics is_a: HP:0002869 ! Flared iliac wings [Term] id: HP:0008819 name: Narrow, short femoral neck namespace: medical_genetics def: "An abnormally short and narrow femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft)." [HPO:curators] is_a: HP:0003032 ! Short femoral neck [Term] id: HP:0008820 name: Absent ossification of femoral capital epiphyses namespace: medical_genetics is_a: HP:0006499 ! Abnormality of femoral epiphyses [Term] id: HP:0008821 name: Hypoplastic inferior ilia namespace: medical_genetics is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0008822 name: Hypoplastic ishchiopubic rami namespace: medical_genetics is_a: HP:0003175 ! Hypoplastic ischia [Term] id: HP:0008823 name: Hypoplastic inferior pubic rami namespace: medical_genetics is_a: HP:0003173 ! Hypoplastic pubic bones [Term] id: HP:0008824 name: Hypoplastic iliac body namespace: medical_genetics is_a: HP:0000946 ! Hypoplastic ilia [Term] id: HP:0008826 name: Dislocated femoral heads namespace: medical_genetics is_a: HP:0003366 ! Abnormality of the femoral neck and head region [Term] id: HP:0008827 name: Absent pubic ossification in infancy namespace: medical_genetics is_a: HP:0009105 ! Abnormal ossification of the pubic bone [Term] id: HP:0008828 name: Delayed ossification proximal femoral epiphyses namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis [Term] id: HP:0008829 name: Delayed femoral head ossification namespace: medical_genetics is_a: HP:0003368 ! Abnormality of the femoral head is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck [Term] id: HP:0008830 name: Hypoplastic pubic rami namespace: medical_genetics is_a: HP:0003173 ! Hypoplastic pubic bones [Term] id: HP:0008831 name: Small femoral heads namespace: medical_genetics is_a: HP:0008802 ! Hypoplastic femoral head [Term] id: HP:0008832 name: Flat, irregular acetabula namespace: medical_genetics is_a: HP:0003180 ! Flat acetabular roofs [Term] id: HP:0008833 name: Irregular acetabular roof namespace: medical_genetics is_a: HP:0003170 ! Acetabular abnormality [Term] id: HP:0008834 name: Flat, irregular acetabular roofs namespace: medical_genetics is_a: HP:0003180 ! Flat acetabular roofs [Term] id: HP:0008835 name: Multicentric femoral head ossification namespace: medical_genetics is_a: HP:0009107 ! Abnormal ossification involving the femoral head and neck [Term] id: HP:0008837 name: Small iliac wings with concave inferior and medial margin namespace: medical_genetics is_a: HP:0003169 ! Small iliac wings [Term] id: HP:0008838 name: Stippled calcification proximal humeral epiphyses namespace: medical_genetics is_a: HP:0003901 ! Stippled calcification of the humeral epiphyses [Term] id: HP:0008839 name: Hypoplastic pelvis namespace: medical_genetics is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis [Term] id: HP:0008840 name: Small sacrosciatic notch namespace: medical_genetics alt_id: HP:0008842 def: "Abnormally small sacrosciatic notch (also known as the greater sciatic notch). This is the deep indentation in the posterior border of the hip bone at the point of union of the ilium and ischium." [HPO:curators] synonym: "Small sacrosciatic notches" EXACT [] is_a: HP:0003375 ! Narrow sacrosciatic notches [Term] id: HP:0008841 name: Hypoplastic/aplastic pubic bones namespace: medical_genetics is_a: HP:0003173 ! Hypoplastic pubic bones [Term] id: HP:0008843 name: Hip osteoarthritis namespace: medical_genetics alt_id: HP:0008809 synonym: "Osteoarthritis of hip" EXACT [] is_a: HP:0002758 ! Osteoarthritis [Term] id: HP:0008844 name: Mild-severe postnatal growth deficiency namespace: medical_genetics is_a: HP:0001514 ! Postnatal growth retardation [Term] id: HP:0008845 name: Short stature, disproportionate mesomelic namespace: medical_genetics is_a: HP:0003498 ! Short stature, disproportionate [Term] id: HP:0008846 name: Severe intrauterine growth retardation namespace: medical_genetics is_a: HP:0001511 ! Intrauterine growth retardation [Term] id: HP:0008847 name: Short stature, prenatal onset namespace: medical_genetics is_a: HP:0001515 ! Prenatal growth deficiency [Term] id: HP:0008848 name: Moderately short stature namespace: medical_genetics alt_id: HP:0008891 def: "A moderate degree of short stature." [HPO:curators] synonym: "Moderate short stature" EXACT [] is_a: HP:0003503 ! Mild to moderate short stature [Term] id: HP:0008849 name: Low birth weight in males namespace: medical_genetics is_a: HP:0001518 ! Low birth weight [Term] id: HP:0008850 name: Postnatal growth retardation, severe namespace: medical_genetics is_a: HP:0001514 ! Postnatal growth retardation [Term] id: HP:0008851 name: Short-trunk dwarfism, identifiable in infancy namespace: medical_genetics is_a: HP:0003500 ! Short-trunked dwarfism [Term] id: HP:0008852 name: Mild spondylorhizomelic dwarfism namespace: medical_genetics is_a: HP:0003520 ! Rhizomelic dwarfism [Term] id: HP:0008853 name: Progressive failure to thrive namespace: medical_genetics is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0008854 name: Severe growth failure namespace: medical_genetics is_a: HP:0001517 ! Growth failure [Term] id: HP:0008855 name: Moderate growth deficiency namespace: medical_genetics is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008856 name: Acral hypertrophy namespace: medical_genetics is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0008857 name: Short-trunk dwarfism identifiable at birth namespace: medical_genetics is_a: HP:0003500 ! Short-trunked dwarfism [Term] id: HP:0008859 name: Delayed pubertal growth namespace: medical_genetics is_a: HP:0000823 ! Delayed puberty [Term] id: HP:0008860 name: Mild growth deficiency namespace: medical_genetics is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008861 name: Mild prenatal growth deficiency namespace: medical_genetics is_a: HP:0001515 ! Prenatal growth deficiency [Term] id: HP:0008862 name: Small for gestational age infant namespace: medical_genetics is_a: HP:0004322 ! Decreased body height [Term] id: HP:0008863 name: Failure to thrive in first year of life namespace: medical_genetics is_a: HP:0001531 ! Failure to thrive in infancy [Term] id: HP:0008864 name: Reduced upper-lower segment ratio namespace: medical_genetics is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0008865 name: Postnatal growth failure namespace: medical_genetics is_a: HP:0001514 ! Postnatal growth retardation [Term] id: HP:0008866 name: Failure to thrive secondary to recurrent infections namespace: medical_genetics is_a: HP:0002719 ! Recurrent infections [Term] id: HP:0008867 name: Dwarfism, short-trunk, short-limbed namespace: medical_genetics is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008868 name: Postnatal growth deceleration namespace: medical_genetics is_a: HP:0001514 ! Postnatal growth retardation [Term] id: HP:0008869 name: Micromelic dwarfism namespace: medical_genetics is_a: HP:0001516 ! Dwarfism [Term] id: HP:0008871 name: Height less than 3rd percentile namespace: medical_genetics is_a: HP:0001509 ! Short stature [Term] id: HP:0008872 name: Feeding problems in infancy namespace: medical_genetics is_a: HP:0002022 ! Feeding difficulties [Term] id: HP:0008873 name: Short stature, disproportionate short-limbed namespace: medical_genetics alt_id: HP:0008858 alt_id: HP:0008889 def: "A type of short stature characterized by a short limbs but an average-sized trunk." [HPO:curators] synonym: "Short stature, disproportionate short limb" EXACT [] synonym: "Short stature, disproportionate short-limb" EXACT [] is_a: HP:0003498 ! Short stature, disproportionate [Term] id: HP:0008874 name: Truncal obesity developing in mid-childhood namespace: medical_genetics is_a: HP:0001956 ! Truncal obesity [Term] id: HP:0008875 name: Brachymelic dwarfism namespace: medical_genetics is_a: HP:0001516 ! Dwarfism [Term] id: HP:0008876 name: Severe postnatal failure to thrive namespace: medical_genetics is_a: HP:0001525 ! Severe failure to thrive [Term] id: HP:0008877 name: Short stature, rhizomelic namespace: medical_genetics is_a: HP:0001509 ! Short stature [Term] id: HP:0008878 name: Failure to thrive in survivors namespace: medical_genetics is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0008879 name: Relative short stature namespace: medical_genetics is_a: HP:0001509 ! Short stature [Term] id: HP:0008880 name: Mild short-limb dwarfism namespace: medical_genetics is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008881 name: Short limb dwarfism, disproportionate namespace: medical_genetics is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008882 name: Short stature in first year of life namespace: medical_genetics is_a: HP:0003501 ! Postnatal short stature [Term] id: HP:0008883 name: Mild intrauterine growth retardation namespace: medical_genetics is_a: HP:0001511 ! Intrauterine growth retardation [Term] id: HP:0008884 name: Severe congenital proportionate dwarfism namespace: medical_genetics is_a: HP:0003504 ! Proportionate dwarfism [Term] id: HP:0008885 name: Truncal obesity, mild namespace: medical_genetics is_a: HP:0001956 ! Truncal obesity [Term] id: HP:0008887 name: Adipose tissue loss namespace: medical_genetics alt_id: HP:0008938 synonym: "Marked lack of adipose tissue" EXACT [] is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0008888 name: Variable short stature namespace: medical_genetics is_a: HP:0001509 ! Short stature [Term] id: HP:0008890 name: Severe short-limb dwarfism namespace: medical_genetics is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008892 name: Variable prenatal growth deficiency namespace: medical_genetics is_a: HP:0001515 ! Prenatal growth deficiency [Term] id: HP:0008893 name: Growth retardation, prenatal and postnatal namespace: medical_genetics alt_id: HP:0008870 alt_id: HP:0008886 alt_id: HP:0008926 def: "A deficiency or slowing down of growth pre- and postnatally." [HPO:curators] synonym: "Pre- and postnatal growth deficiency" EXACT [] synonym: "Pre- and postnatal growth retardation" EXACT [] synonym: "Pre-and postnatal growth retardation" EXACT [] is_a: HP:0001514 ! Postnatal growth retardation is_a: HP:0001515 ! Prenatal growth deficiency [Term] id: HP:0008894 name: Short-limb dwarfism identifiable neonatally namespace: medical_genetics is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008895 name: Short stature, severe disproportionate namespace: medical_genetics is_a: HP:0003498 ! Short stature, disproportionate [Term] id: HP:0008896 name: Mesomelic dwarfism namespace: medical_genetics is_a: HP:0001516 ! Dwarfism [Term] id: HP:0008897 name: Growth retardation, progressive namespace: medical_genetics is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008898 name: Lethal dwarfism identifiable at birth namespace: medical_genetics is_a: HP:0001516 ! Dwarfism [Term] id: HP:0008899 name: Severe prenatal growth deficiency namespace: medical_genetics is_a: HP:0001515 ! Prenatal growth deficiency [Term] id: HP:0008900 name: Severely disproportionate short stature namespace: medical_genetics is_a: HP:0003498 ! Short stature, disproportionate [Term] id: HP:0008901 name: Mild-to-moderate growth deficiency namespace: medical_genetics is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008902 name: Dwarfism, neonatal short-limbed namespace: medical_genetics is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008903 name: Mesomelic short stature namespace: medical_genetics is_a: HP:0003027 ! Mesomelia [Term] id: HP:0008904 name: Increased upper to lower segment ratio namespace: medical_genetics is_a: HP:0001507 ! Growth abnormality [Term] id: HP:0008905 name: Rhizomelic short stature namespace: medical_genetics is_a: HP:0002968 ! Rhizomelic shortening [Term] id: HP:0008906 name: Intrauterine growth retardation, severe namespace: medical_genetics is_a: HP:0001511 ! Intrauterine growth retardation [Term] id: HP:0008907 name: Dwarfism, birth weight normal namespace: medical_genetics is_a: HP:0001516 ! Dwarfism [Term] id: HP:0008908 name: Variable mild short stature namespace: medical_genetics is_a: HP:0003502 ! Mild short stature [Term] id: HP:0008909 name: Lethal short-limbed dwarfism namespace: medical_genetics is_a: HP:0001523 ! Short-limbed dwarfism [Term] id: HP:0008910 name: Dwarfism, short limb mesomelic namespace: medical_genetics is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008911 name: Severe growth retardation from infancy namespace: medical_genetics is_a: HP:0001521 ! Severe growth retardation [Term] id: HP:0008912 name: Short limb dwarfism, prenatal onset namespace: medical_genetics is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008913 name: Pre- and postnatal short stature namespace: medical_genetics is_a: HP:0001509 ! Short stature [Term] id: HP:0008914 name: Dwarfism, short-limb, prenatal onset namespace: medical_genetics is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008915 name: Truncal obesity apparent in childhood namespace: medical_genetics is_a: HP:0001956 ! Truncal obesity [Term] id: HP:0008916 name: Postnatal failure to thrive namespace: medical_genetics is_a: HP:0001508 ! Failure to thrive [Term] id: HP:0008917 name: Postnatal onset of mild growth retardation namespace: medical_genetics is_a: HP:0001514 ! Postnatal growth retardation [Term] id: HP:0008918 name: Growth retardation as children namespace: medical_genetics is_a: HP:0001510 ! Growth retardation [Term] id: HP:0008919 name: Birth weight less than 3rd percentile namespace: medical_genetics is_a: HP:0001826 ! Weight less than 3rd percentile [Term] id: HP:0008920 name: Severe short stature, postnatal onset namespace: medical_genetics is_a: HP:0003501 ! Postnatal short stature [Term] id: HP:0008921 name: Neonatal short-limbed dwarfism namespace: medical_genetics is_a: HP:0001523 ! Short-limbed dwarfism [Term] id: HP:0008922 name: Short-trunk dwarfism identifiable during childhood namespace: medical_genetics is_a: HP:0003500 ! Short-trunked dwarfism [Term] id: HP:0008923 name: Severe short-trunked dwarfism namespace: medical_genetics is_a: HP:0003500 ! Short-trunked dwarfism [Term] id: HP:0008924 name: Severe short-limb dwarfism at birth namespace: medical_genetics is_a: HP:0001536 ! Short-limb dwarfism identifiable at birth [Term] id: HP:0008925 name: Failure to thrive in male infants namespace: medical_genetics is_a: HP:0001531 ! Failure to thrive in infancy [Term] id: HP:0008927 name: Birth weight < 3rd percentile namespace: medical_genetics is_a: HP:0001826 ! Weight less than 3rd percentile [Term] id: HP:0008928 name: Disproportionate short-limb dwarfism namespace: medical_genetics is_a: HP:0003505 ! Short limb dwarfism [Term] id: HP:0008929 name: Asymmetric short stature namespace: medical_genetics is_a: HP:0001509 ! Short stature [Term] id: HP:0008930 name: Dwarfism recognizable at birth namespace: medical_genetics is_a: HP:0001516 ! Dwarfism [Term] id: HP:0008931 name: Intrauterine growth failure namespace: medical_genetics is_a: HP:0001511 ! Intrauterine growth retardation [Term] id: HP:0008932 name: Severe postnatal growth deficiency namespace: medical_genetics is_a: HP:0001514 ! Postnatal growth retardation [Term] id: HP:0008935 name: Hypotonia, neonatal, generalized namespace: medical_genetics is_a: HP:0001319 ! Neonatal hypotonia [Term] id: HP:0008936 name: Muscular hypotonia of the trunk namespace: medical_genetics alt_id: HP:0002320 def: "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk." [HPO:curators] synonym: "Axial hypotonia" EXACT [] synonym: "Truncal hypotonia" EXACT [] is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0008937 name: Mild distal muscle atrophy namespace: medical_genetics def: "Mild degree of muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0008939 name: Peroneal muscle atrophy and weakness namespace: medical_genetics is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008940 name: Generalized lymphadenopathy namespace: medical_genetics is_a: HP:0002716 ! Lymphadenopathy [Term] id: HP:0008942 name: Rhabdomyolysis, acute namespace: medical_genetics is_a: HP:0003201 ! Rhabdomyolysis [Term] id: HP:0008944 name: Distal lower limb muscle weakness and atrophy namespace: medical_genetics def: "Amyotrophy of distal lower leg muscles with resultant weakness." [HPO:curators] is_a: HP:0003746 ! Amyotrophy involving the lower limbs [Term] id: HP:0008945 name: Loss of ability to walk in early childhood namespace: medical_genetics is_a: HP:0006915 ! Inability to walk by childhood/adolescence [Term] id: HP:0008946 name: Pelvic girdle weakness and atrophy namespace: medical_genetics is_a: HP:0003749 ! Pelvic girdle muscle weakness [Term] id: HP:0008947 name: Infantile muscular hypotonia namespace: medical_genetics alt_id: HP:0002449 def: "Muscular hypotonia (abnormally low muscle tone) manifesting in infancy." [HPO:curators] synonym: "Hypotonia (infancy)" EXACT [] synonym: "Hypotonia in infancy" EXACT [] is_a: HP:0001252 ! Muscular hypotonia [Term] id: HP:0008948 name: Proximal upper limb muscle atrophy namespace: medical_genetics alt_id: HP:0008995 def: "Muscular atrophy affecting proximally located muscles of the arms." [HPO:curators] synonym: "Proximal muscle atrophy in upper limbs" EXACT [] is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008949 name: Muscle atrophy, lower limb, distal namespace: medical_genetics def: "Muscular atrophy affecting muscles in the distal portions of the lower extremities." [HPO:curators] is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0008952 name: Shoulder muscle hypoplasia namespace: medical_genetics def: "Underdevelopment of muscles of the shoulder." [HPO:curators] is_a: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature [Term] id: HP:0008953 name: Pectoralis major muscle hypoplasia namespace: medical_genetics def: "Underdevelopment of the pectoralis major muscle." [HPO:curators] is_a: HP:0009131 ! Abnormality of the musculature of the thorax [Term] id: HP:0008954 name: Intrinsic hand muscles weakness and atrophy namespace: medical_genetics is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0008955 name: Progressive distal muscular atrophy namespace: medical_genetics def: "Progressive muscular atrophy affecting muscles in the distal portions of the extremities." [HPO:curators] is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0008956 name: Proximal lower limb muscle atrophy namespace: medical_genetics def: "Muscular atrophy affecting proximally located muscles of the legs." [HPO:curators] is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008957 name: Progressive scapuloperoneal atrophy namespace: medical_genetics is_a: HP:0003697 ! Scapuloperoneal atrophy [Term] id: HP:0008958 name: Distal amyotrophy, especially of the hands and feet namespace: medical_genetics is_a: HP:0003693 ! Distal amyotrophy [Term] id: HP:0008959 name: Distal weakness in arms then legs namespace: medical_genetics is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0008960 name: Mitochondrial myopathy, severe namespace: medical_genetics is_a: HP:0003737 ! Mitochondrial myopathy [Term] id: HP:0008961 name: Proximal muscle weakness and wasting namespace: medical_genetics is_a: HP:0006966 ! Proximal muscle wasting [Term] id: HP:0008962 name: Hypoplastic calf muscles namespace: medical_genetics is_a: HP:0001430 ! Abnormality of the calf musculature [Term] id: HP:0008963 name: Tibialis weakness and atrophy namespace: medical_genetics is_a: HP:0006940 ! Distal muscle weakness and atrophy [Term] id: HP:0008964 name: Nonprogressive muscular atrophy namespace: medical_genetics def: "Muscular atrophy that does not display a progression in severity with time." [HPO:curators] is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0008965 name: Slowly progressive proximal muscle weakness namespace: medical_genetics def: "Lack of strength of the proximal muscles that slowly becomes more severe." [HPO:curators] is_a: HP:0009073 ! Muscle weakness, progressive, proximal [Term] id: HP:0008967 name: Exercise-induced muscle stiffness namespace: medical_genetics alt_id: HP:0003633 synonym: "Muscle stiffness with exercise" EXACT [] synonym: "Muscle stiffness, exercise-induced" EXACT [] is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0008968 name: Muscle hypertrophy of the lower extremities namespace: medical_genetics is_a: HP:0003712 ! Muscle hypertrophy [Term] id: HP:0008969 name: Leg muscle stiffness namespace: medical_genetics is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0008970 name: Scapulohumeral muscular dystrophy namespace: medical_genetics is_a: HP:0003560 ! Muscular dystrophy [Term] id: HP:0008972 name: Decreased activities of mitochondrial-encoded respiratory chain complexes namespace: medical_genetics is_a: HP:0008347 ! Decreased activity of mitochondrial respiratory complexes i, ii+iii, and iv [Term] id: HP:0008973 name: Delayed motor skills namespace: medical_genetics is_a: HP:0002194 ! Delayed gross motor development [Term] id: HP:0008974 name: Thigh muscle atrophy namespace: medical_genetics is_a: HP:0003748 ! Amyotrophy involving the thigh [Term] id: HP:0008976 name: Hypotonia, in neonatal onset namespace: medical_genetics is_a: HP:0001319 ! Neonatal hypotonia [Term] id: HP:0008977 name: Moderate diffuse skeletal muscle wasting namespace: medical_genetics def: "Moderately severe, diffuse atrophy of the skeletal muscle." [HPO:curators] is_a: HP:0008987 ! Muscle atrophy, diffuse [Term] id: HP:0008978 name: Necrotizing myopathy namespace: medical_genetics is_a: HP:0003198 ! Myopathy [Term] id: HP:0008979 name: Muscle weakness, severe namespace: medical_genetics alt_id: HP:0009061 synonym: "Severe muscle weakness" EXACT [] is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0008980 name: Symmetric proximal muscular atrophy namespace: medical_genetics alt_id: HP:0008943 def: "Muscular atrophy affecting proximally located muscles of the arms in a symmetric fashion." [HPO:curators] synonym: "Symmetrical, proximal limb muscle atrophy" EXACT [] is_a: HP:0007126 ! Proximal amyotrophy [Term] id: HP:0008981 name: Muscular hypertrophy, esp calf muscles namespace: medical_genetics is_a: HP:0003712 ! Muscle hypertrophy [Term] id: HP:0008982 name: Peroneal atrophy namespace: medical_genetics is_a: HP:0001430 ! Abnormality of the calf musculature [Term] id: HP:0008983 name: Muscle pain and cramps following exercise namespace: medical_genetics is_a: HP:0003710 ! Muscle cramps with exercise [Term] id: HP:0008984 name: Neck muscle hypoplasia namespace: medical_genetics def: "Underdevelopment of muscles of the neck." [HPO:curators] is_a: HP:0001460 ! Aplasia/Hypoplasia involving the musculature [Term] id: HP:0008985 name: Increased intramuscular fat namespace: medical_genetics def: "An abnormal increase in the amount of intramuscular fat tissue." [HPO:curators] is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0008986 name: Agenesis of the diaphragm namespace: medical_genetics synonym: "Agenesis of diaphragm" RELATED [] is_a: HP:0000775 ! Abnormality of the diaphragm [Term] id: HP:0008987 name: Muscle atrophy, diffuse namespace: medical_genetics def: "Diffuse (unlocalized) atrophy of the skeletal muscle." [HPO:curators] is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0008988 name: Pelvic girdle muscle atrophy namespace: medical_genetics alt_id: HP:0008992 synonym: "Pelvic girdle muscle wasting" EXACT [] is_a: HP:0001445 ! Abnormality of the hip-girdle musculature [Term] id: HP:0008991 name: Leg cramps may occur with exercise namespace: medical_genetics is_a: HP:0003710 ! Muscle cramps with exercise [Term] id: HP:0008993 name: Increased intraabdominal fat namespace: medical_genetics def: "An abnormal increase in the amount of intraabdominal fat tissue." [HPO:curators] is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0008994 name: Proximal muscle weakness in lower limbs namespace: medical_genetics alt_id: HP:0008941 def: "A lack of strength of the proximal muscles of the legs." [HPO:curators] synonym: "Muscle weakness, proximal, lower limbs" EXACT [] is_a: HP:0003701 ! Muscle weakness, proximal [Term] id: HP:0008997 name: Proximal muscle weakness in upper limbs namespace: medical_genetics def: "A lack of strength of the proximal muscles of the arms." [HPO:curators] is_a: HP:0003701 ! Muscle weakness, proximal [Term] id: HP:0008998 name: Pectoralis hypoplasia namespace: medical_genetics is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia [Term] id: HP:0008999 name: Hip girdle muscle weakness namespace: medical_genetics is_a: HP:0001445 ! Abnormality of the hip-girdle musculature [Term] id: HP:0009000 name: Variable muscle cramps on exertion namespace: medical_genetics is_a: HP:0003710 ! Muscle cramps with exercise [Term] id: HP:0009001 name: Lower limb muscle hypotrophy namespace: medical_genetics is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs [Term] id: HP:0009002 name: Loss of subcutaneous truncal adipose tissue namespace: medical_genetics alt_id: HP:0008989 synonym: "Loss of truncal adipose tissue" EXACT [] is_a: HP:0003758 ! Reduced subcutaneous adipose tissue is_a: HP:0009124 ! Abnormality of adipose tissue [Term] id: HP:0009003 name: Increased subcutaneous truncal adipose tissue namespace: medical_genetics is_a: HP:0009126 ! Increased adipose tissue [Term] id: HP:0009004 name: Muscle hypoplasia namespace: medical_genetics is_a: HP:0001460 ! Aplasia/Hypoplasia involving the musculature [Term] id: HP:0009005 name: Weakness of the intrinsic hand muscles namespace: medical_genetics is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0009006 name: Muscle biopsy shows decrease or absence of cytochrome C oxidase namespace: medical_genetics is_a: HP:0003688 ! Muscle biopsy shows decreased activity of cytochrome C oxidase [Term] id: HP:0009007 name: Hypoplastic biceps namespace: medical_genetics def: "Underdevelopment of the biceps muscle." [HPO:curators] is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps [Term] id: HP:0009008 name: Distal muscle weakness, mild namespace: medical_genetics def: "A mild degree of reduced strength of the distal musculature." [HPO:curators] is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0009009 name: Shoulder weakness and atrophy namespace: medical_genetics is_a: HP:0003547 ! Shoulder girdle muscle weakness [Term] id: HP:0009010 name: Muscle hypotrophy namespace: medical_genetics is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0009011 name: Hypoplasia of serratus anterior muscle namespace: medical_genetics def: "Underdevelopment of the serratus anterior muscle, which is involved in abduction, upward Rotation, and elevation of the scapula." [HPO:curators] is_a: HP:0009131 ! Abnormality of the musculature of the thorax [Term] id: HP:0009012 name: Muscle weakness and atrophy namespace: medical_genetics is_a: HP:0001324 ! Muscle weakness [Term] id: HP:0009013 name: Congenital absence of gluteal muscles namespace: medical_genetics is_a: HP:0001443 ! Abnormality of the gluteal musculature is_a: HP:0001471 ! Aplasia/Hypoplasia of the musculature of the pelvis [Term] id: HP:0009014 name: Muscle stiffness or aching namespace: medical_genetics is_a: HP:0003552 ! Muscle stiffness [Term] id: HP:0009016 name: Upper limb muscle hypoplasia namespace: medical_genetics def: "Underdevelopment of muscles of the arm." [HPO:curators] is_a: HP:0001467 ! Aplasia/Hypoplasia involving the musculature of the upper limbs [Term] id: HP:0009017 name: Loss of subcutaneous adipose tissue from gluteal region namespace: medical_genetics is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0009018 name: Generalized muscle cramps namespace: medical_genetics is_a: HP:0003394 ! Muscle cramps [Term] id: HP:0009019 name: Loss of subcutaneous adipose tissue from face, progressive namespace: medical_genetics is_a: HP:0000292 ! Loss of facial adipose tissue [Term] id: HP:0009020 name: Exercise-induced muscle fatigue namespace: medical_genetics is_a: HP:0003750 ! Muscle fatigue [Term] id: HP:0009021 name: EMG shows myopathic changes early in disease namespace: medical_genetics is_a: HP:0003322 ! EMG shows myopathic changes [Term] id: HP:0009023 name: Abdominal wall muscle weakness namespace: medical_genetics is_a: HP:0004298 ! Abnormality of the abdominal wall musculature [Term] id: HP:0009024 name: Calf muscle hypertrophy namespace: medical_genetics is_a: HP:0003703 ! Calf hypertrophy [Term] id: HP:0009025 name: Increased connective tissue namespace: medical_genetics is_a: HP:0003549 ! Abnormality of the soft tissues [Term] id: HP:0009026 name: Hypoplasia of latissimus dorsi muscle namespace: medical_genetics def: "Underdevelopment of the latissimus dorsi muscle, which is involved in adduction, extension, internal rotation, and transverse extension of the shoulder and assists in movement of the scapula." [HPO:curators] is_a: HP:0009131 ! Abnormality of the musculature of the thorax [Term] id: HP:0009027 name: Foot dorsiflexor weakness namespace: medical_genetics is_a: HP:0001436 ! Abnormality of the foot musculature [Term] id: HP:0009028 name: Generalized weakness of limb muscles namespace: medical_genetics def: "Generalized weakness of the muscles of the arms and legs." [HPO:curators] is_a: HP:0009127 ! Abnormality of the musculature of the limbs [Term] id: HP:0009029 name: Rimmed vacuoles may occur namespace: medical_genetics is_a: HP:0003805 ! Rimmed vacuoles [Term] id: HP:0009030 name: Difficulty walking, running namespace: medical_genetics is_a: HP:0002355 ! Difficulty walking [Term] id: HP:0009031 name: Atrophy of ankle and toe extensor muscles namespace: medical_genetics is_a: HP:0001436 ! Abnormality of the foot musculature [Term] id: HP:0009033 name: Proximal muscle weakness, mild namespace: medical_genetics alt_id: HP:0008950 alt_id: HP:0008975 def: "Mild lack of strength affecting the proximal musculature." [HPO:curators] synonym: "Mild proximal muscle weakness" EXACT [] synonym: "Mild proximal weakness" EXACT [] is_a: HP:0003701 ! Muscle weakness, proximal [Term] id: HP:0009034 name: Poorly developed skeletal musculature namespace: medical_genetics def: "Poor development of the skeletal muscles." [HPO:curators] is_a: HP:0001460 ! Aplasia/Hypoplasia involving the musculature [Term] id: HP:0009035 name: Distal muscle weakness in lower limbs, severe namespace: medical_genetics def: "Severely reduced strength of the distal musculature of the legs." [HPO:curators] is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0009037 name: Segmental spinal muscular atrophy namespace: medical_genetics is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0009042 name: Marked muscular hypertrophy namespace: medical_genetics def: "Severe hypertrophy (increase in size) of muscle cells." [HPO:curators] is_a: HP:0003712 ! Muscle hypertrophy [Term] id: HP:0009044 name: Hypoplasia of deltoid muscle namespace: medical_genetics alt_id: HP:0009039 def: "Underdevelopment of the deltoid muscle." [HPO:curators] synonym: "Deltoid muscle hypoplasia" EXACT [] is_a: HP:0001464 ! Aplasia/Hypoplasia involving the shoulder musculature [Term] id: HP:0009045 name: Rhabdomyolysis with exercise namespace: medical_genetics is_a: HP:0003201 ! Rhabdomyolysis [Term] id: HP:0009046 name: Difficulty walking, running, climbing stairs namespace: medical_genetics is_a: HP:0007019 ! Difficulty walking and climbing stairs [Term] id: HP:0009049 name: Peroneal muscle atrophy namespace: medical_genetics is_a: HP:0001430 ! Abnormality of the calf musculature [Term] id: HP:0009050 name: Quadriceps muscle atrophy namespace: medical_genetics def: "Muscular atrophy involving the quadriceps muscle." [HPO:curators] is_a: HP:0003748 ! Amyotrophy involving the thigh [Term] id: HP:0009051 name: Increased muscle glycogen content namespace: medical_genetics def: "An increased amount of glycogen, which functions as a secondary short term energy storage in several organs, in muscle tissue." [HPO:curators] is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0009053 name: Muscle weakness, lower limb, distal namespace: medical_genetics def: "Weakness of the distal muscles of the legs." [HPO:curators] is_a: HP:0007340 ! Lower limb muscle weakness [Term] id: HP:0009054 name: Scapuloperoneal myopathy namespace: medical_genetics is_a: HP:0001430 ! Abnormality of the calf musculature is_a: HP:0001465 ! Amyotrophy involving the shoulder musculature [Term] id: HP:0009055 name: Generalized limb muscle atrophy namespace: medical_genetics def: "Generalized atrophy affecting muscles of the limbs." [HPO:curators] is_a: HP:0003700 ! Generalized amyotrophy [Term] id: HP:0009056 name: Loss of subcutaneous adipose tissue from upper limbs and trunk namespace: medical_genetics is_a: HP:0003758 ! Reduced subcutaneous adipose tissue [Term] id: HP:0009057 name: Progressive distal muscle weakness and atrophy namespace: medical_genetics alt_id: HP:0008933 synonym: "Progressive distal weakness and amyotrophy" EXACT [] is_a: HP:0006940 ! Distal muscle weakness and atrophy [Term] id: HP:0009058 name: Lipid accumulation in skeletal muscle namespace: medical_genetics def: "An abnormal accumulation of lipids in skeletal muscle." [HPO:curators] is_a: HP:0003011 ! Abnormality of musculature [Term] id: HP:0009059 name: Congenital generalized lipodystrophy namespace: medical_genetics is_a: HP:0009125 ! Lipodystrophy [Term] id: HP:0009060 name: Scapular muscle atrophy namespace: medical_genetics is_a: HP:0001465 ! Amyotrophy involving the shoulder musculature [Term] id: HP:0009062 name: Hypotonia, axial, in infancy namespace: medical_genetics def: "Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk and with onset in infancy." [HPO:curators] is_a: HP:0008936 ! Muscular hypotonia of the trunk is_a: HP:0008947 ! Infantile muscular hypotonia [Term] id: HP:0009063 name: Muscle weakness, distal, progressive namespace: medical_genetics alt_id: HP:0009022 def: "Progressively reduced strength of the distal musculature." [HPO:curators] synonym: "Muscle weakness, progressive, distal" EXACT [] is_a: HP:0002460 ! Distal muscle weakness [Term] id: HP:0009064 name: Generalized lipodystrophy namespace: medical_genetics alt_id: HP:0008966 def: "Generalized degenerative changes of the fat tissue." [HPO:curators] synonym: "Lipodystrophy, generalized" EXACT [] is_a: HP:0009125 ! Lipodystrophy [Term] id: HP:0009066 name: Adult-onset limb-girdle muscular dystrophy namespace: medical_genetics is_a: HP:0006785 ! Limb-girdle muscular dystrophy [Term] id: HP:0009067 name: Progressive spinal muscular atrophy namespace: medical_genetics def: "Progressive spinal muscular atrophy, i.e., muscular weakness and atrophy related to loss of the motor neurons of the spinal cord and brainstem." [HPO:curators] is_a: HP:0007269 ! Spinal muscular atrophy [Term] id: HP:0009069 name: Lethal infantile mitochondrial myopathy namespace: medical_genetics is_a: HP:0003737 ! Mitochondrial myopathy [Term] id: HP:0009070 name: Skeletal muscle tissue shows 14 to 45% depletion of mitochondrial dna namespace: medical_genetics is_a: HP:0009141 ! Depletion of mitochondrial DNA in muscle tissue [Term] id: HP:0009071 name: Inflammatory myopathy namespace: medical_genetics is_a: HP:0003198 ! Myopathy [Term] id: HP:0009072 name: Hyporeflexia at ankle joints namespace: medical_genetics is_a: HP:0002600 ! Hyporeflexia of lower limbs [Term] id: HP:0009073 name: Muscle weakness, progressive, proximal namespace: medical_genetics def: "Lack of strength of the proximal muscles that becomes progressively more severe." [HPO:curators] is_a: HP:0003701 ! Muscle weakness, proximal [Term] id: HP:0009074 name: Diffuse muscle atrophy namespace: medical_genetics alt_id: HP:0008996 def: "Diffuse amyotrophy affecting multiple muscles." [HPO:curators] synonym: "Diffuse muscle wasting" EXACT [] is_a: HP:0003202 ! Amyotrophy [Term] id: HP:0009075 name: Muscle weakness, predominantly proximal namespace: medical_genetics def: "A lack of strength that predominantly affects the proximal muscles." [HPO:curators] is_a: HP:0003701 ! Muscle weakness, proximal [Term] id: HP:0009076 name: Muscle biopsy shows ragged-red fibers with decreased COX activity namespace: medical_genetics is_a: HP:0003200 ! Muscle biopsy shows ragged red fibers [Term] id: HP:0009077 name: Weakness of long finger extensor muscles namespace: medical_genetics is_a: HP:0001421 ! Abnormality of the musculature of the hand [Term] id: HP:0009078 name: Thickened alveolar ridges namespace: medical_genetics is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009079 name: Hypoplastic tongue namespace: medical_genetics is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0009080 name: Narrow, high-arched palate namespace: medical_genetics alt_id: HP:0009082 alt_id: HP:0009097 def: "An abnormally narrow and highly arched palate." [HPO:curators] synonym: "Narrow and high arched palate" EXACT [] synonym: "Narrow, highly arched palate" EXACT [] is_a: HP:0000156 ! High-arched palate is_a: HP:0000189 ! Narrow palate [Term] id: HP:0009081 name: Small, irregularly placed teeth namespace: medical_genetics is_a: HP:0006316 ! Irregularly spaced teeth [Term] id: HP:0009083 name: Thick alveolar ridges namespace: medical_genetics is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009084 name: Midline notch of upper alveolar ridge namespace: medical_genetics is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009085 name: Hypertrophied alveolar ridge namespace: medical_genetics is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009086 name: Thick, everted lower lip namespace: medical_genetics is_a: HP:0000232 ! Everted lower lip [Term] id: HP:0009087 name: Posteriorly placed tongue namespace: medical_genetics is_a: HP:0000157 ! Abnormality of the tongue [Term] id: HP:0009088 name: Speech articulation difficulties namespace: medical_genetics is_a: HP:0006936 ! Speech difficulties [Term] id: HP:0009089 name: Wide midline cleft lip/palate namespace: medical_genetics is_a: HP:0008501 ! Median cleft lip/palate [Term] id: HP:0009090 name: Facial diplegic appearance namespace: medical_genetics is_a: HP:0001349 ! Facial diplegia [Term] id: HP:0009091 name: Submucous cleft hard palate namespace: medical_genetics is_a: HP:0000176 ! Submucous cleft palate [Term] id: HP:0009092 name: Progressive alveolar ridge hypertropy namespace: medical_genetics is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009093 name: Enlarged everted lower lip namespace: medical_genetics is_a: HP:0000232 ! Everted lower lip [Term] id: HP:0009094 name: Cleft lower alveolar ridge namespace: medical_genetics is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009095 name: Small, downturned mouth namespace: medical_genetics is_a: HP:0002714 ! Downturned corners of mouth [Term] id: HP:0009096 name: Downturned or small mouth namespace: medical_genetics is_a: HP:0002714 ! Downturned corners of mouth [Term] id: HP:0009098 name: Chronic oral candidiasis namespace: medical_genetics is_a: HP:0002728 ! Chronic mucocutaneous candidiasis [Term] id: HP:0009099 name: Median cleft palate namespace: medical_genetics is_a: HP:0008501 ! Median cleft lip/palate [Term] id: HP:0009100 name: Thick anterior alveolar ridges namespace: medical_genetics is_a: HP:0006477 ! Abnormality of the alveolar ridges [Term] id: HP:0009101 name: Submucous cleft lip namespace: medical_genetics is_a: HP:0000208 ! Submucous cleft [Term] id: HP:0009102 name: Anterior openbite malocclusion namespace: medical_genetics is_a: HP:0000689 ! Dental malocclusion [Term] id: HP:0009103 name: Aplasia/Hypoplasia involving the pelvis namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis created_by: peter creation_date: 2008-04-04T08:40:00Z [Term] id: HP:0009104 name: Aplasia/Hypoplasia of the pubic bone namespace: medical_genetics is_a: HP:0003172 ! Abnormality of the pubic bones is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis created_by: peter creation_date: 2008-04-04T08:41:00Z [Term] id: HP:0009105 name: Abnormal ossification of the pubic bone namespace: medical_genetics is_a: HP:0003172 ! Abnormality of the pubic bones is_a: HP:0009106 ! Abnormal ossification involving the bones of the pelvis created_by: peter creation_date: 2008-04-04T08:41:00Z [Term] id: HP:0009106 name: Abnormal ossification involving the bones of the pelvis namespace: medical_genetics is_a: HP:0002644 ! Abnormality of the pelvis created_by: peter creation_date: 2008-04-04T08:42:00Z [Term] id: HP:0009107 name: Abnormal ossification involving the femoral head and neck namespace: medical_genetics is_a: HP:0003366 ! Abnormality of the femoral neck and head region is_a: HP:0009106 ! Abnormal ossification involving the bones of the pelvis created_by: peter creation_date: 2008-04-04T08:42:00Z [Term] id: HP:0009108 name: Aplasia/Hypoplasia involving the femoral head and neck namespace: medical_genetics is_a: HP:0003366 ! Abnormality of the femoral neck and head region is_a: HP:0009103 ! Aplasia/Hypoplasia involving the pelvis created_by: peter creation_date: 2008-04-04T08:44:00Z [Term] id: HP:0009109 name: Denervation of the diaphragm namespace: medical_genetics is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter creation_date: 2008-04-05T10:41:00Z [Term] id: HP:0009110 name: Diaphragmatic eventration namespace: medical_genetics synonym: "Eventration of the diaphragm" RELATED [] is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter creation_date: 2008-04-05T10:42:00Z [Term] id: HP:0009112 name: Diaphragmatic defect, often unilateral and left-sided namespace: medical_genetics is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter creation_date: 2008-04-05T10:43:00Z [Term] id: HP:0009113 name: Diaphragmatic weakness namespace: medical_genetics alt_id: HP:0009111 synonym: "Diaphragmatic paraparesis" EXACT [] is_a: HP:0000775 ! Abnormality of the diaphragm created_by: peter creation_date: 2008-04-05T10:43:00Z [Term] id: HP:0009114 name: Eventration of the right or both hemidiaphragms namespace: medical_genetics is_a: HP:0009110 ! Diaphragmatic eventration created_by: peter creation_date: 2008-04-05T10:44:00Z [Term] id: HP:0009115 name: Aplasia/Hypoplasia involving the skeleton namespace: medical_genetics is_a: HP:0000924 ! Abnormality of the musculoskeletal system created_by: peter creation_date: 2008-04-05T10:53:00Z [Term] id: HP:0009116 name: Aplasia/Hypoplasia involving bones of the skull namespace: medical_genetics is_a: HP:0000929 ! Abnormality of the skull is_a: HP:0009122 ! Aplasia/Hypoplasia affecting bones of the axial skeleton created_by: peter creation_date: 2008-04-05T10:53:00Z [Term] id: HP:0009117 name: Aplasia/Hypoplasia of the maxilla namespace: medical_genetics is_a: HP:0000326 ! Abnormality of the maxilla is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull created_by: peter creation_date: 2008-04-05T10:57:00Z [Term] id: HP:0009118 name: Aplasia/Hypoplasia of the mandible namespace: medical_genetics is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull created_by: peter creation_date: 2008-04-05T10:57:00Z [Term] id: HP:0009119 name: Aplasia/Hypoplasia of the frontal sinuses namespace: medical_genetics is_a: HP:0002687 ! Abnormality of the frontal sinuses is_a: HP:0009120 ! Aplasia/Hypoplasia involving the sinuses created_by: peter creation_date: 2008-04-05T11:00:00Z [Term] id: HP:0009120 name: Aplasia/Hypoplasia involving the sinuses namespace: medical_genetics is_a: HP:0000245 ! Abnormality of the sinuses is_a: HP:0009116 ! Aplasia/Hypoplasia involving bones of the skull created_by: peter creation_date: 2008-04-05T11:01:00Z [Term] id: HP:0009121 name: Abnormality of the axial skeleton namespace: medical_genetics def: "The axial skeleton comprises the skull, the vertebral column, the ribs and the sternum." [HPO:curators] is_a: HP:0000924 ! Abnormality of the musculoskeletal system created_by: peter creation_date: 2008-04-05T11:16:00Z [Term] id: HP:0009122 name: Aplasia/Hypoplasia affecting bones of the axial skeleton namespace: medical_genetics is_a: HP:0009115 ! Aplasia/Hypoplasia involving the skeleton is_a: HP:0009121 ! Abnormality of the axial skeleton created_by: peter creation_date: 2008-04-05T11:29:00Z [Term] id: HP:0009123 name: Mixed hypo- and hyperpigmentation of the skin namespace: medical_genetics is_a: HP:0001000 ! Abnormality of skin pigmentation created_by: peter creation_date: 2008-04-05T11:36:00Z [Term] id: HP:0009124 name: Abnormality of adipose tissue namespace: medical_genetics def: "An abnormality of adipose (or fat) tissue, which is loose connective tissue composed of adipocytes." [HPO:curators] is_a: HP:0003549 ! Abnormality of the soft tissues created_by: peter creation_date: 2008-04-05T11:40:00Z [Term] id: HP:0009125 name: Lipodystrophy namespace: medical_genetics def: "Degenerative changes of the fat tissue." [HPO:curators] is_a: HP:0009124 ! Abnormality of adipose tissue created_by: peter creation_date: 2008-04-05T11:40:00Z [Term] id: HP:0009126 name: Increased adipose tissue namespace: medical_genetics def: "An increase in adipose tissue mass by hyperplastic growth (increase in the number of adipocytes) or by hypertrophic growth (increase in the size of adipocytes occurring primarily by lipid accumulation within the cell)." [HPO:curators] is_a: HP:0009124 ! Abnormality of adipose tissue created_by: peter creation_date: 2008-04-05T11:43:00Z [Term] id: HP:0009127 name: Abnormality of the musculature of the limbs namespace: medical_genetics is_a: HP:0002813 ! Abnormality of the extremities created_by: peter creation_date: 2008-04-07T02:00:00Z [Term] id: HP:0009128 name: Aplasia/Hypoplasia involving the musculature of the extremities namespace: medical_genetics is_a: HP:0009127 ! Abnormality of the musculature of the limbs created_by: peter creation_date: 2008-04-07T02:01:00Z [Term] id: HP:0009129 name: Amyotrophy involving the upper limbs namespace: medical_genetics def: "Muscular atrophy involving the muscles of the upper limbs." [HPO:curators] is_a: HP:0002817 ! Abnormality of the upper limbs is_a: HP:0003671 ! Amyotrophy involving the extremities created_by: peter creation_date: 2008-04-07T05:01:00Z [Term] id: HP:0009130 name: Amyotrophy involving the musculature of the hand namespace: medical_genetics alt_id: HP:0006967 alt_id: HP:0008934 alt_id: HP:0008951 alt_id: HP:0009038 def: "Muscular atrophy involving the muscles of the hand." [HPO:curators] comment: This term can be used to described bilateral amyotrophy of the musculature of the hand. synonym: "Amyotrophy of hand muscles" EXACT [] synonym: "Hand muscle atrophy" EXACT [] synonym: "Hand muscle wasting" EXACT [] synonym: "Hand muscle wasting, bilateral" EXACT [] is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0009129 ! Amyotrophy involving the upper limbs created_by: peter creation_date: 2008-04-07T05:01:00Z [Term] id: HP:0009131 name: Abnormality of the musculature of the thorax namespace: medical_genetics def: "A disease or lesion affecting the muscles of the thorax." [HPO:curators] is_a: HP:0000765 ! Abnormality of the thorax is_a: HP:0003011 ! Abnormality of musculature created_by: peter creation_date: 2008-04-07T05:06:00Z [Term] id: HP:0009132 name: Abnormality of bone mineral density involving tarsal bones namespace: medical_genetics is_a: HP:0001850 ! Abnormalities of the tarsal bones is_a: HP:0009133 ! Abnormality of bone mineral density involving bones of the feet created_by: peter creation_date: 2008-04-17T02:39:00Z [Term] id: HP:0009133 name: Abnormality of bone mineral density involving bones of the feet namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet created_by: peter creation_date: 2008-04-17T02:41:00Z [Term] id: HP:0009134 name: Osteolysis involving bones of the feet namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet is_a: HP:0009139 ! Osteolysis involving bones of the lower limbs created_by: peter creation_date: 2008-04-17T02:43:00Z [Term] id: HP:0009135 name: Duplication of bones of the toes namespace: medical_genetics is_a: HP:0001780 ! Abnormality of the toes is_a: HP:0009136 ! Duplication involving bones of the feet created_by: peter creation_date: 2008-04-17T02:44:00Z [Term] id: HP:0009136 name: Duplication involving bones of the feet namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet created_by: peter creation_date: 2008-04-17T02:45:00Z [Term] id: HP:0009138 name: Synostosis involving bones of the lower limbs namespace: medical_genetics is_a: HP:0002814 ! Abnormality of the lower limbs created_by: peter creation_date: 2008-04-17T02:51:00Z [Term] id: HP:0009139 name: Osteolysis involving bones of the lower limbs namespace: medical_genetics is_a: HP:0002814 ! Abnormality of the lower limbs created_by: peter creation_date: 2008-04-17T02:52:00Z [Term] id: HP:0009140 name: Synostosis involving bones of the feet namespace: medical_genetics is_a: HP:0001760 ! Abnormality of the feet created_by: peter creation_date: 2008-04-17T02:54:00Z [Term] id: HP:0009141 name: Depletion of mitochondrial DNA in muscle tissue namespace: medical_genetics is_a: HP:0003800 ! Muscle abnormality related to mitochondrial dysfunction created_by: peter creation_date: 2008-05-02T12:00:00Z [Term] id: HP:0009142 name: Duplication of bones involving the upper extremities namespace: medical_genetics is_a: HP:0002817 ! Abnormality of the upper limbs created_by: peter creation_date: 2008-05-02T01:23:00Z [Term] id: HP:0009143 name: Duplication of finger bones namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers is_a: HP:0004275 ! Duplication of hand bones created_by: peter creation_date: 2008-05-02T01:25:00Z [Term] id: HP:0009144 name: Supernumerary bones of the axial skeleton namespace: medical_genetics is_a: HP:0009121 ! Abnormality of the axial skeleton created_by: peter creation_date: 2008-05-02T01:29:00Z [Term] id: HP:0009145 name: Abnormalities of the cerebral arteries namespace: medical_genetics is_a: HP:0002620 ! Arterial abnormalities created_by: peter creation_date: 2008-05-02T01:39:00Z [Term] id: HP:0009146 name: Nasal, high-pitched voice namespace: medical_genetics is_a: HP:0001611 ! Nasal speech is_a: HP:0001620 ! High pitched voice created_by: peter creation_date: 2008-05-02T02:30:00Z [Term] id: HP:0009147 name: Enlarged epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger created_by: peter creation_date: 2008-12-22T01:39:32Z [Term] id: HP:0009148 name: Small epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger created_by: peter creation_date: 2008-12-22T01:40:08Z [Term] id: HP:0009149 name: Triangular epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics alt_id: HP:0009137 def: "A triangular appearance of the epiphysis of the distal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the distal phalanx of the 5th finger" EXACT [] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger created_by: peter creation_date: 2008-12-22T01:40:48Z [Term] id: HP:0009150 name: Abnormality of the proximal phalanx of the 5th finger namespace: medical_genetics def: "Abnormality of the proximal phalanx of the little (5th) finger." [HPO:curators] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger created_by: peter creation_date: 2008-12-22T02:00:20Z [Term] id: HP:0009151 name: Abnormality of the epiphyses of the fingers namespace: medical_genetics is_a: HP:0001167 ! Abnormality of the fingers created_by: peter creation_date: 2008-12-22T02:06:38Z [Term] id: HP:0009152 name: Abnormality of the epiphyses of the 5th finger namespace: medical_genetics def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 5th finger." [HPO:curators] is_a: HP:0004207 ! Abnormality of the 5th finger is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: peter creation_date: 2008-12-22T02:07:27Z [Term] id: HP:0009153 name: Abnormality of the epiphysis of the proximal phalanx of the 5th finger namespace: medical_genetics def: "Abnormality of the epiphysis of the proximal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curator] is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger created_by: peter creation_date: 2008-12-22T05:47:42Z [Term] id: HP:0009154 name: Triangular epiphysis of the proximal phalanx of the 5th finger namespace: medical_genetics alt_id: HP:0009156 def: "A triangular appearance of the epiphysis of the proximal phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 5th finger" EXACT [] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009155 name: Cone-shaped epiphysis of the proximal phalanx of the 5th finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Angel-shaped epiphysis of the proximal phalanx of the 5th finger" RELATED [] synonym: "Cone-shaped epiphysis of the proximal phalanx of the little finger" RELATED [] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009157 name: Ivory epiphysis of the proximal phalanx of the 5th finger namespace: medical_genetics def: "Sclerosis of the epiphysis of the proximal phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Ivory epiphysis of the proximal phalanx of the little finger" RELATED [] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009388 ! Ivory epiphyses of the 5th finger created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009158 name: Enlarged epiphysis of the proximal phalanx of the 5th finger namespace: medical_genetics def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009159 name: Small epiphysis of the proximal phalanx of the 5th finger namespace: medical_genetics def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009160 name: Absent epiphysis of the proximal phalanx of the 5th finger namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger created_by: peter creation_date: 2008-12-22T05:50:39Z [Term] id: HP:0009161 name: Aplasia/Hypoplasia of the middle phalanx of the 5th finger namespace: medical_genetics alt_id: HP:0006242 def: "Absence or underdevelopment (hypoplasia) of the middle phalanx of the little (5th) finger." [HPO:curators] synonym: "Absent/hypoplastic middle phalanx of 5th finger" EXACT [] is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger created_by: peter creation_date: 2008-12-22T05:55:56Z [Term] id: HP:0009162 name: Aplasia of the middle phalanx of the 5th finger namespace: medical_genetics def: "Absence of the middle phalanx of the little (5th) finger." [HPO:curators] is_a: HP:0009161 ! Aplasia/Hypoplasia of the middle phalanx of the 5th finger is_a: HP:0009238 ! Aplasia of the 5th finger created_by: peter creation_date: 2008-12-22T06:08:40Z [Term] id: HP:0009163 name: Abnormal form of the 5th finger namespace: medical_genetics def: "Abnormal form of the 5th finger." [HPO:curators] is_obsolete: true created_by: peter creation_date: 2008-12-22T06:17:30Z [Term] id: HP:0009164 name: Abnormal calcification of the carpal bones namespace: medical_genetics alt_id: HP:0006154 synonym: "Carpal calcifications" EXACT [] is_a: HP:0001191 ! Abnormality of the carpal bones created_by: peter creation_date: 2008-12-22T06:53:39Z [Term] id: HP:0009165 name: Stippling of the epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of 5th finger created_by: peter creation_date: 2008-12-29T02:07:42Z [Term] id: HP:0009166 name: Fragmentation of the epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger created_by: peter creation_date: 2008-12-29T02:14:33Z [Term] id: HP:0009167 name: Irregular epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger created_by: peter creation_date: 2008-12-29T02:18:06Z [Term] id: HP:0009168 name: Bullet-shaped middle phalanx of the 5th finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 5th finger is affected." [HPO:curators] is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: peter creation_date: 2008-12-29T02:44:53Z [Term] id: HP:0009169 name: Broad middle phalanx of the 5th finger namespace: medical_genetics def: "Increased width of the middle phalanx of the 5th finger." [HPO:curators] synonym: "Wide middle phalanx of the 5th finger" EXACT [] is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009374 ! Broad phalanges of the 5th finger is_a: HP:0009844 ! Broad middle phalanges of the hand created_by: peter creation_date: 2008-12-29T02:49:04Z [Term] id: HP:0009170 name: Osteolytic defects of the middle phalanx of the 5th finger namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: peter creation_date: 2008-12-29T02:51:32Z [Term] id: HP:0009171 name: Triangular epiphyses of the metacarpals namespace: medical_genetics def: "A triangular appearance of the epiphyses of the metacarpals. Thess epiphyses are located at the distal end of the metacarpals." [HPO:curators] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009172 name: Abnormality of the phalanges of the 4th finger namespace: medical_genetics alt_id: HP:0004191 def: "Abnormality of the phalanges of the 4th (ring) finger." [HPO:curators] synonym: "Abnormality of the phalanges of the ring finger" EXACT [] is_a: HP:0004188 ! Abnormality of the 4th finger created_by: doelkens creation_date: 2009-01-05T04:18:24Z [Term] id: HP:0009173 name: Curved middle phalanx of the 5th finger namespace: medical_genetics def: "Curved appearance of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009846 ! Curved middle phalanges of the hand created_by: peter creation_date: 2008-12-29T03:05:04Z [Term] id: HP:0009174 name: Abnormality of the epiphyses of the 4th finger namespace: medical_genetics def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 4th finger." [HPO:curators] is_a: HP:0004188 ! Abnormality of the 4th finger is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-05T04:23:43Z [Term] id: HP:0009175 name: Patchy sclerosis of the middle phalanx of the 5th finger namespace: medical_genetics def: "Patchy increase in bone density of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of the phalanges of the 5th finger is_a: HP:0009848 ! Patchy sclerosis of the middle phalanges of the hand created_by: peter creation_date: 2008-12-29T03:10:34Z [Term] id: HP:0009176 name: Symphalangism of the distal and middle phalanges of the 5th finger namespace: medical_genetics def: "Fusion of the terminal/distal and middle phalanges of the 5th finger." [HPO:curators] synonym: "Fusion of the terminal and middle phalanges of the 5th finger" RELATED [] synonym: "Symphalangism of the terminal and middle phalanges of the 5th finger" EXACT [] is_a: HP:0009178 ! Symphalangism affecting the middle phalanx of the 5th finger is_a: HP:0009244 ! Symphalangism affecting the distal phalanx of the 5th finger created_by: peter creation_date: 2008-12-29T03:15:16Z [Term] id: HP:0009177 name: Symphalangism of the middle and proximal phalanges of the 5th finger namespace: medical_genetics alt_id: HP:0009235 def: "Fusion of the proximal and middle phalanges of the 5th finger." [HPO:curators] synonym: "Symphalangism of the proximal and middle phalanges of the 5th finger" EXACT [] is_a: HP:0009178 ! Symphalangism affecting the middle phalanx of the 5th finger is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger created_by: peter creation_date: 2008-12-29T03:17:08Z [Term] id: HP:0009178 name: Symphalangism affecting the middle phalanx of the 5th finger namespace: medical_genetics def: "Fusion of the middle phalanx of the 5th finger with another bone." [HPO:curator] is_a: HP:0004218 ! Symphalangism of the 5th finger is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009849 ! Symphalangism affecting the middle phalanges of the hand created_by: peter creation_date: 2008-12-29T03:17:43Z [Term] id: HP:0009179 name: Deviation of the 5th finger namespace: medical_genetics alt_id: HP:0006036 def: "Displacement of the 5th finger from its normal position." [HPO:curators] synonym: "Laterally displaced fifth finger" EXACT [] is_a: HP:0004097 ! Deviated fingers is_a: HP:0004207 ! Abnormality of the 5th finger created_by: peter creation_date: 2008-12-29T03:29:20Z [Term] id: HP:0009180 name: Ulnar deviation of the 5th finger namespace: medical_genetics def: "Displacement of the 5th finger towards the ulnar side." [HPO:curators] is_a: HP:0009179 ! Deviation of the 5th finger is_a: HP:0009465 ! Ulnar deviation of fingers created_by: peter creation_date: 2008-12-29T03:30:05Z [Term] id: HP:0009182 name: Triangular shaped middle phalanx of the 5th finger namespace: medical_genetics is_a: HP:0004219 ! Abnormality of the middle phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand created_by: peter creation_date: 2008-12-29T04:05:33Z [Term] id: HP:0009183 name: Joint contractures of the 5th finger namespace: medical_genetics alt_id: HP:0001184 def: "Chronic loss of joint motion in the 5th finger due to structural changes in non-bony tissue. The term camptodactyly of the 5th finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:curators] synonym: "Fifth finger camptodactyly" EXACT [] is_a: HP:0004207 ! Abnormality of the 5th finger is_a: HP:0009472 ! Joint contractures of the fingers created_by: peter creation_date: 2008-12-29T04:11:30Z [Term] id: HP:0009184 name: Contracture of the distal interphalangeal joint of the 5th finger namespace: medical_genetics def: "Chronic loss of joint motion of the distal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue." [HPO:curator] is_a: HP:0009183 ! Joint contractures of the 5th finger is_a: HP:0009697 ! Contractures of the distal interphalangeal joints of the fingers created_by: peter creation_date: 2008-12-29T04:16:15Z [Term] id: HP:0009185 name: Contracture of the proximal interphalangeal joint of the 5th finger namespace: medical_genetics def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 5th finger due to structural changes in non-bony tissue." [HPO:curators] is_a: HP:0009183 ! Joint contractures of the 5th finger is_a: HP:0009698 ! Contractures of the proximal interphalangeal joints of the fingers created_by: peter creation_date: 2008-12-29T04:16:58Z [Term] id: HP:0009186 name: Contracture of the metacarpophalangeal joint of the 5th finger namespace: medical_genetics def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 5th finger due to structural changes in non-bony tissue." [HPO:curator] is_a: HP:0009183 ! Joint contractures of the 5th finger created_by: peter creation_date: 2008-12-29T04:18:00Z [Term] id: HP:0009187 name: Bracket epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger created_by: doelkens creation_date: 2008-12-30T12:07:32Z [Term] id: HP:0009188 name: Pseudoepiphysis of the distal phalanx of the 5th finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009198 ! Abnormality of the epiphysis of the distal phalanx of the 5th finger is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger created_by: doelkens creation_date: 2008-12-30T12:28:19Z [Term] id: HP:0009189 name: Fragmentation of the metacarpal epiphyses namespace: medical_genetics def: "Fragmented appearance of the epiphyses of the metacarpals." [HPO:curators] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009190 name: Irregular epiphyses of the metacarpals namespace: medical_genetics def: "Irregular radiographic opacity of the epiphyses of the metacarpals." [HPO:curators] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009191 name: Ivory epiphyses of the metacarpals namespace: medical_genetics def: "Sclerosis of the epiphyses of the metacarpals, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009192 name: Aplasia/Hypoplasia of the proximal phalanx of the 5th finger namespace: medical_genetics def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger." [HPO:curators] is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:57:28Z [Term] id: HP:0009193 name: Pseudoepiphyses of the metacarpals namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009194 name: Small epiphyses of the metacarpals namespace: medical_genetics def: "Abnormally small size of the epiphyses located at the distal end of the metacarpals in respect to age-dependent norms." [HPO:curators] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009195 name: Stippling of the epiphyses of the metacarpals namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the metacarpals." [HPO:curators] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009196 name: Absent metacarpal epiphyses namespace: medical_genetics alt_id: HP:0006013 def: "Absence of the epiphyses of the metacarpal bones, which are normally located at the distal ends of the metacarpals." [HPO:curators] synonym: "Absent metacarpal ossification center" EXACT [] is_a: HP:0005913 ! Abnormality of metacarpal epiphyses created_by: doelkens creation_date: 2008-12-30T02:03:34Z [Term] id: HP:0009197 name: Bracket epiphysis of the proximal phalanx of the 5th finger namespace: medical_genetics def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:05:01Z [Term] id: HP:0009198 name: Abnormality of the epiphysis of the distal phalanx of the 5th finger namespace: medical_genetics alt_id: HP:0004228 def: "Abnormality of the epiphysis of the distal phalanx of the fifth finger. This epiphysis is located on the proximal end of the phalanx." [HPO:curators] synonym: "Abnormality of the epiphysis of the terminal phalanx of the little finger" EXACT [] is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T04:41:32Z [Term] id: HP:0009199 name: Irregular epiphysis of the proximal phalanx of the 5th finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:09:06Z [Term] id: HP:0009200 name: Pseudoepiphysis of the proximal phalanx of the 5th finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:10:13Z [Term] id: HP:0009201 name: Stippling of the epiphysis of the proximal phalanx of the 5th finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of 5th finger created_by: doelkens creation_date: 2009-01-05T05:11:42Z [Term] id: HP:0009202 name: Fragmentation of the epiphysis of the proximal phalanx of the 5th finger namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009153 ! Abnormality of the epiphysis of the proximal phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:13:41Z [Term] id: HP:0009203 name: Absent epiphysis of the middle phalanx of the 5th finger namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009382 ! Absent epiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009204 name: Bracket epiphysis of the middle phalanx of the 5th finger namespace: medical_genetics def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009383 ! Bracket epiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009205 name: Cone-shaped epiphysis of the middle phalanx of the 5th finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the little finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009384 ! Cone-shaped epiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009206 name: Enlarged epiphysis of the middle phalanx of the 5th finger namespace: medical_genetics def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009385 ! Enlarged epiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009207 name: Fragmentation of the epiphysis of the middle phalanx of the 5th finger namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009386 ! Fragmentation of the epiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009208 name: Irregular epiphysis of the middle phalanx of the 5th finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009387 ! Irregular epiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009209 name: Ivory epiphysis of the middle phalanx of the 5th finger namespace: medical_genetics def: "Sclerosis of the epiphysis of the middle phalanx of the little finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009388 ! Ivory epiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009210 name: Pseudoepiphysis of the middle phalanx of the 5th finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009389 ! Pseudoepiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009211 name: Small epiphysis of the middle phalanx of the 5th finger namespace: medical_genetics def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009390 ! Small epiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009212 name: Stippling of the epiphysis of the middle phalanx of the 5th finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 5th finger." [HPO:curators] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009391 ! Stippling of the epiphyses of 5th finger created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009213 name: Triangular epiphysis of the middle phalanx of the 5th finger namespace: medical_genetics def: "A triangular appearance of the epiphysis of the middle phalanx of the little finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the middle phalanx of the 5th finger" EXACT [] is_a: HP:0004224 ! Abnormality of the epiphysis of the middle phalanx of the 5th finger is_a: HP:0009392 ! Triangular epiphyses of the 5th finger created_by: doelkens creation_date: 2009-01-05T05:22:18Z [Term] id: HP:0009214 name: Absent epiphysis of the middle phalanx of the 4th finger namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 4th finger." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009215 name: Bracket epiphysis of the middle phalanx of the 4th finger namespace: medical_genetics def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009216 name: Cone-shaped epiphysis of the middle phalanx of the 4th finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009217 name: Enlarged epiphysis of the middle phalanx of the 4th finger namespace: medical_genetics def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009218 name: Fragmentation of the epiphysis of the middle phalanx of the 4th finger namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009219 name: Irregular epiphysis of the middle phalanx of the 4th finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009220 name: Ivory epiphysis of the middle phalanx of the 4th finger namespace: medical_genetics def: "Sclerosis of the epiphysis of the middle phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009221 name: Pseudoepiphysis of the middle phalanx of the 4th finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009222 name: Small epiphysis of the middle phalanx of the 4th finger namespace: medical_genetics def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009223 name: Stippling of the epiphysis of the middle phalanx of the 4th finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 4th finger." [HPO:curators] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of 4th finger created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009224 name: Triangular epiphysis of the middle phalanx of the 4th finger namespace: medical_genetics def: "A triangular appearance of the epiphysis of the middle phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the middle phalanx of the 4th finger" EXACT [] is_a: HP:0009247 ! Abnormality of the epiphysis of the middle phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-05T05:23:59Z [Term] id: HP:0009225 name: Aplasia of the proximal phalanx of the 5th finger namespace: medical_genetics def: "Absence of the proximal phalanx of the little (5th) finger." [HPO:curators] is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger is_a: HP:0009238 ! Aplasia of the 5th finger created_by: doelkens creation_date: 2009-01-05T06:00:33Z [Term] id: HP:0009226 name: Hypoplastic/small proximal phalanx of the 5th finger namespace: medical_genetics def: "Absence or underdevelopment (hypoplasia) of the proximal phalanx of the little (5th) finger." [HPO:curators] is_a: HP:0009192 ! Aplasia/Hypoplasia of the proximal phalanx of the 5th finger is_a: HP:0009237 ! Hypoplastic/small 5th finger created_by: doelkens creation_date: 2009-01-05T06:01:34Z [Term] id: HP:0009227 name: Broad proximal phalanx of the 5th finger namespace: medical_genetics def: "Increased width of the proximal phalanx of the 5th finger." [HPO:curators] synonym: "Wide proximal phalanx of the 5th finger" EXACT [] is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009374 ! Broad phalanges of the 5th finger is_a: HP:0009852 ! Broad proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009228 name: Bullet-shaped proximal phalanx of the 5th finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 5th finger is affected." [HPO:curators] is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009229 name: Curved proximal phalanx of the 5th finger namespace: medical_genetics def: "Curved appearance of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0004214 ! Curved phalanges of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009230 name: Osteolytic defects of the proximal phalanx of the 5th finger namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009231 name: Patchy sclerosis of the proximal phalanx of the 5th finger namespace: medical_genetics def: "Patchy increase in bone density of the proximal phalanx of the 5th finger." [HPO:curators] is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of the phalanges of the 5th finger is_a: HP:0009856 ! Patchy sclerosis of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009232 name: Symphalangism affecting the proximal phalanx of the 5th finger namespace: medical_genetics def: "Fusion of the proximal phalanx of the 5th finger with another bone." [HPO:curators] is_a: HP:0004218 ! Symphalangism of the 5th finger is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009233 name: Triangular shaped proximal phalanx of the 5th finger namespace: medical_genetics is_a: HP:0009150 ! Abnormality of the proximal phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T06:11:33Z [Term] id: HP:0009234 name: Symphalangism of the proximal phalanx of the 5th finger with the 5th metatcarpal namespace: medical_genetics def: "Fusion of the proximal phalanx of the 5th finger with the 5th metacarpal." [HPO:curators] is_a: HP:0005880 ! Metacarpophalangeal synostoses is_a: HP:0009232 ! Symphalangism affecting the proximal phalanx of the 5th finger is_a: HP:0009708 ! Synostosis involving the 5th metacarpal created_by: doelkens creation_date: 2009-01-05T06:19:01Z [Term] id: HP:0009236 name: Rhomboid or triangular shaped 5th finger proximal phalanx namespace: medical_genetics def: "Rhomboid or triangular shaped 5th (little) finger proximal phalanx." [HPO:curators] is_a: HP:0009233 ! Triangular shaped proximal phalanx of the 5th finger created_by: doelkens creation_date: 2009-01-05T06:20:38Z [Term] id: HP:0009237 name: Hypoplastic/small 5th finger namespace: medical_genetics alt_id: HP:0001205 alt_id: HP:0004208 alt_id: HP:0004210 alt_id: HP:0004211 alt_id: HP:0004215 alt_id: HP:0004217 alt_id: HP:0005804 def: "Hypoplastic/small 5th (little) finger." [HPO:curators] synonym: "Fifth finger brachydactyly" EXACT [] synonym: "Hypoplastic phalanges of the little finger" EXACT [] synonym: "Hypoplastic/small little finger" EXACT [] synonym: "Short fifth finger" EXACT [] synonym: "Short fifth fingers" EXACT [] synonym: "Short fifth fingers," EXACT [] synonym: "Short little finger" EXACT [] synonym: "Short phalanges of the little finger" EXACT [] is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger is_a: HP:0009381 ! Hypoplastic/small fingers created_by: doelkens creation_date: 2009-01-05T06:54:07Z [Term] id: HP:0009238 name: Aplasia of the 5th finger namespace: medical_genetics def: "Absent 5th (little) finger." [HPO:curators] is_a: HP:0006262 ! Aplasia/Hypoplasia of the 5th finger is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-01-05T07:02:48Z [Term] id: HP:0009239 name: Aplasia/Hypoplasia of the distal phalanx of the 5th finger namespace: medical_genetics is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009376 ! Aplasia/Hypoplasia of the phalanges of the 5th finger created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009240 name: Broad distal phalanx of the 5th finger namespace: medical_genetics def: "Increased width of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009374 ! Broad phalanges of the 5th finger is_a: HP:0009836 ! Broad distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009241 name: Bullet-shaped distal phalanx of the 5th finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 5th finger is affected." [HPO:curators] is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009375 ! Bullet-shaped phalanges of the 5th finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009242 name: Osteolytic defects of the distal phalanx of the 5th finger namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0004216 ! Osteolytic defects of the phalanges of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009243 name: Patchy sclerosis of the distal phalanx of the 5th finger namespace: medical_genetics def: "Patchy increase in bone density of the distal phalanx of the 5th finger." [HPO:curators] is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009377 ! Patchy sclerosis of the phalanges of the 5th finger is_a: HP:0009840 ! Patchy sclerosis of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009244 name: Symphalangism affecting the distal phalanx of the 5th finger namespace: medical_genetics def: "Fusion of the distal phalanx of the 5th finger with another bone." [HPO:curators] is_a: HP:0004218 ! Symphalangism of the 5th finger is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009841 ! Symphalangism affecting the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009245 name: Triangular shaped distal phalanx of the 5th finger namespace: medical_genetics def: "Triangular shaped distal phalanx of the 5th (little) finger." [HPO:curators] is_a: HP:0004225 ! Abnormality of the distal phalanx of the 5th finger is_a: HP:0009378 ! Triangular shaped phalanges of the 5th finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-05T07:25:50Z [Term] id: HP:0009246 name: Aplasia of the distal phalanx of the 5th finger namespace: medical_genetics def: "Absence of the distal phalanx of the little (5th) finger." [HPO:curators] is_a: HP:0009238 ! Aplasia of the 5th finger is_a: HP:0009239 ! Aplasia/Hypoplasia of the distal phalanx of the 5th finger created_by: doelkens creation_date: 2009-01-05T07:27:52Z [Term] id: HP:0009247 name: Abnormality of the epiphysis of the middle phalanx of the 4th finger namespace: medical_genetics is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-07T11:29:14Z [Term] id: HP:0009248 name: Abnormality of the epiphysis of the proximal phalanx of the 4th finger namespace: medical_genetics is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:04:09Z [Term] id: HP:0009249 name: Abnormality of the epiphysis of the distal phalanx of the 4th finger namespace: medical_genetics is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:04:09Z [Term] id: HP:0009250 name: Absent epiphysis of the distal phalanx of the 4th finger namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009251 name: Bracket epiphysis of the distal phalanx of the 4th finger namespace: medical_genetics def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009252 name: Cone-shaped epiphysis of the distal phalanx of the 4th finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009253 name: Enlarged epiphysis of the distal phalanx of the 4th finger namespace: medical_genetics def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009254 name: Fragmentation of the epiphysis of the distal phalanx of the 4th finger namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009255 name: Irregular epiphysis of the distal phalanx of the 4th finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009256 name: Ivory epiphysis of the distal phalanx of the 4th finger namespace: medical_genetics def: "Sclerosis of the epiphysis of the distal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009257 name: Pseudoepiphysis of the distal phalanx of the 4th finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009258 name: Small epiphysis of the distal phalanx of the 4th finger namespace: medical_genetics def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009259 name: Stippling of the epiphysis of the distal phalanx of the 4th finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of 4th finger created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009260 name: Triangular epiphysis of the distal phalanx of the 4th finger namespace: medical_genetics def: "A triangular appearance of the epiphysis of the distal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the distal phalanx of the 4th finger" EXACT [] is_a: HP:0009249 ! Abnormality of the epiphysis of the distal phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:07:34Z [Term] id: HP:0009261 name: Absent epiphysis of the proximal phalanx of the 4th finger namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009393 ! Absent epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009262 name: Bracket epiphysis of the proximal phalanx of the 4th finger namespace: medical_genetics alt_id: HP:0004200 def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] synonym: "Bracket proximal epiphysis of the ring finger" EXACT [] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009394 ! Bracket epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009263 name: Cone-shaped epiphysis of the proximal phalanx of the 4th finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the ring finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009395 ! Cone-shaped epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009264 name: Enlarged epiphysis of the proximal phalanx of the 4th finger namespace: medical_genetics def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009396 ! Enlarged epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009265 name: Fragmentation of the epiphysis of the proximal phalanx of the 4th finger namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009397 ! Fragmentation of the epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009266 name: Irregular epiphysis of the proximal phalanx of the 4th finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009398 ! Irregular epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009267 name: Ivory epiphysis of the proximal phalanx of the 4th finger namespace: medical_genetics def: "Sclerosis of the epiphysis of the proximal phalanx of the ring finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009399 ! Ivory epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009268 name: Pseudoepiphysis of the proximal phalanx of the 4th finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009400 ! Pseudoepiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009269 name: Small epiphysis of the proximal phalanx of the 4th finger namespace: medical_genetics def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009401 ! Small epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009270 name: Stippling of the epiphysis of the proximal phalanx of the 4th finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009402 ! Stippling of the epiphyses of 4th finger created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009271 name: Triangular epiphysis of the proximal phalanx of the 4th finger namespace: medical_genetics def: "A triangular appearance of the epiphysis of the proximal phalanx of the ring finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 4th finger" EXACT [] is_a: HP:0009248 ! Abnormality of the epiphysis of the proximal phalanx of the 4th finger is_a: HP:0009403 ! Triangular epiphyses of the 4th finger created_by: doelkens creation_date: 2009-01-07T12:12:59Z [Term] id: HP:0009272 name: Aplasia/Hypoplasia of the 4th finger namespace: medical_genetics def: "A small/hypoplastic or absent/aplastic 4th (ring) finger." [HPO:curators] is_a: HP:0004188 ! Abnormality of the 4th finger is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-07T04:01:26Z [Term] id: HP:0009273 name: Deviation of the 4th finger namespace: medical_genetics def: "Displacement of the 4th finger from its normal position." [HPO:curators] is_a: HP:0004097 ! Deviated fingers is_a: HP:0004188 ! Abnormality of the 4th finger created_by: doelkens creation_date: 2009-01-07T04:03:23Z [Term] id: HP:0009274 name: Joint contractures of the 4th finger namespace: medical_genetics alt_id: HP:0004189 def: "Chronic loss of joint motion in the 4th finger due to structural changes in non-bony tissue. The term camptodactyly of the 4th finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:curators] synonym: "Camptodactyly of the 4th finger" EXACT [] synonym: "Camptodactyly of the ring finger" EXACT [] is_a: HP:0004188 ! Abnormality of the 4th finger is_a: HP:0009472 ! Joint contractures of the fingers created_by: doelkens creation_date: 2009-01-07T04:04:54Z [Term] id: HP:0009275 name: Contracture of the distal interphalangeal joint of the 4th finger namespace: medical_genetics def: "Chronic loss of joint motion of the distal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue." [HPO:curators] is_a: HP:0009274 ! Joint contractures of the 4th finger is_a: HP:0009697 ! Contractures of the distal interphalangeal joints of the fingers created_by: doelkens creation_date: 2009-01-07T04:10:39Z [Term] id: HP:0009276 name: Contracture of the proximal interphalangeal joint of the 4th finger namespace: medical_genetics def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 4th finger due to structural changes in non-bony tissue." [HPO:curators] is_a: HP:0009274 ! Joint contractures of the 4th finger is_a: HP:0009698 ! Contractures of the proximal interphalangeal joints of the fingers created_by: doelkens creation_date: 2009-01-07T04:10:39Z [Term] id: HP:0009277 name: Contracture of the metacarpophalangeal joint of the 4th finger namespace: medical_genetics def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 4th finger due to structural changes in non-bony tissue." [HPO:curators] is_a: HP:0009274 ! Joint contractures of the 4th finger created_by: doelkens creation_date: 2009-01-07T04:10:39Z [Term] id: HP:0009278 name: Ulnar deviation of the 4th finger namespace: medical_genetics def: "Displacement of the 4th finger towards the ulnar side." [HPO:curators] is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0009465 ! Ulnar deviation of fingers created_by: doelkens creation_date: 2009-01-07T04:24:53Z [Term] id: HP:0009279 name: Radial deviation of the 4th finger namespace: medical_genetics def: "Displacement of the 4th finger towards the radial side." [HPO:curators] is_a: HP:0009273 ! Deviation of the 4th finger is_a: HP:0009466 ! Radial deviation of fingers created_by: doelkens creation_date: 2009-01-07T04:24:53Z [Term] id: HP:0009280 name: Hypoplastic/small 4th finger namespace: medical_genetics alt_id: HP:0004190 def: "Hypoplastic/small 4th (ring) finger." [HPO:curators] synonym: "Short ring finger" EXACT [] is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger is_a: HP:0009381 ! Hypoplastic/small fingers created_by: doelkens creation_date: 2009-01-07T04:28:08Z [Term] id: HP:0009281 name: Aplasia of the 4th finger namespace: medical_genetics def: "Absent 4th finger." [HPO:curators] is_a: HP:0009272 ! Aplasia/Hypoplasia of the 4th finger is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-01-07T04:28:08Z [Term] id: HP:0009282 name: Abnormality of the distal phalanx of the 4th finger namespace: medical_genetics is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-07T04:42:40Z [Term] id: HP:0009283 name: Abnormality of the middle phalanx of the 4th finger namespace: medical_genetics alt_id: HP:0004204 synonym: "Abnormality of the middle phalanx of the ring finger" EXACT [] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-07T04:42:40Z [Term] id: HP:0009284 name: Abnormality of the proximal phalanx of the 4th finger namespace: medical_genetics alt_id: HP:0004199 synonym: "Abnormality of the proximal phalanx of the ring finger" EXACT [] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-07T04:42:40Z [Term] id: HP:0009285 name: Curved phalanges of the 4th finger namespace: medical_genetics def: "Curved appearance of the phalanges of the 4th (ring) finger." [HPO:curators] is_a: HP:0004095 ! Curved fingers is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009770 ! Curved phalanges of the hand created_by: doelkens creation_date: 2009-01-08T03:44:14Z [Term] id: HP:0009286 name: Curved distal phalanx of the 4th finger namespace: medical_genetics def: "Curved appearance of the distal phalanx of the 4th (ring) finger." [HPO:curators] is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger is_a: HP:0009838 ! Curved distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009287 name: Curved middle phalanx of the 4th finger namespace: medical_genetics def: "Curved appearance of the middle phalanx of the 4th (ring) finger." [HPO:curators] is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger is_a: HP:0009846 ! Curved middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009288 name: Curved proximal phalanx of the 4th finger namespace: medical_genetics is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009285 ! Curved phalanges of the 4th finger is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T03:46:28Z [Term] id: HP:0009289 name: Aplasia/Hypoplasia of the distal phalanx of the 4th finger namespace: medical_genetics is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-08T03:59:04Z [Term] id: HP:0009290 name: Hypoplastic/small distal phalanx of the 4th finger namespace: medical_genetics def: "Hypoplastic/small distal phalanx of the 4th (ring) finger." [HPO:curators] is_a: HP:0009280 ! Hypoplastic/small 4th finger is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-08T03:59:28Z [Term] id: HP:0009291 name: Aplasia of the distal phalanx of the 4th finger namespace: medical_genetics def: "Absence of the distal phalanx of the ring (4th) finger." [HPO:curators] is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009289 ! Aplasia/Hypoplasia of the distal phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:00:27Z [Term] id: HP:0009292 name: Broad distal phalanx of the 4th finger namespace: medical_genetics def: "Increased width of the distal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger is_a: HP:0009836 ! Broad distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009293 name: Broad middle phalanx of the 4th finger namespace: medical_genetics def: "Increased width of the middle phalanx of the 4th finger." [HPO:curators] is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger is_a: HP:0009844 ! Broad middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009294 name: Aplasia of the middle phalanx of the 4th finger namespace: medical_genetics def: "Absence of the middle phalanx of the ring (4th) finger." [HPO:curators] is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:11:35Z [Term] id: HP:0009295 name: Hypoplastic/small middle phalanx of the 4th finger namespace: medical_genetics alt_id: HP:0004205 alt_id: HP:0004206 def: "Hypoplastic/small middle phalanx of the 4th (ring) finger." [HPO:curators] synonym: "Hypoplastic/small middle phalanx of ring finger" EXACT [] synonym: "Short middle phalanx of ring finger" EXACT [] is_a: HP:0009280 ! Hypoplastic/small 4th finger is_a: HP:0009299 ! Aplasia/Hypoplasia of the middle phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:11:35Z [Term] id: HP:0009296 name: Bullet-shaped middle phalanx of the 4th finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 4th finger is affected." [HPO:curators] is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009297 name: Osteolytic defects of the middle phalanx of the 4th finger namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 4th finger." [HPO:curators] is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009298 name: Aplasia of the proximal phalanx of the 4th finger namespace: medical_genetics def: "Absence of the proximal phalanx of the ring (4th) finger." [HPO:curators] is_a: HP:0009281 ! Aplasia of the 4th finger is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:22:16Z [Term] id: HP:0009299 name: Aplasia/Hypoplasia of the middle phalanx of the 4th finger namespace: medical_genetics is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:27:22Z [Term] id: HP:0009300 name: Aplasia/Hypoplasia of the proximal phalanx of the 4th finger namespace: medical_genetics is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009408 ! Aplasia/Hypoplasia of the phalanges of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:28:54Z [Term] id: HP:0009301 name: Hypoplastic/small proximal phalanx of the 4th finger namespace: medical_genetics def: "Hypoplastic/small proximal phalanx of the 4th (ring) finger." [HPO:curators] is_a: HP:0009280 ! Hypoplastic/small 4th finger is_a: HP:0009300 ! Aplasia/Hypoplasia of the proximal phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-08T04:29:38Z [Term] id: HP:0009302 name: Bullet-shaped distal phalanx of the 4th finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 4th finger is affected." [HPO:curators] is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009303 name: Osteolytic defects of the distal phalanx of the 4th finger namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 4th finger." [HPO:curators] is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009304 name: Patchy sclerosis of the distal phalanx of the 4th finger namespace: medical_genetics def: "Patchy increase in bone density of the distal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of the phalanges of the 4th finger is_a: HP:0009840 ! Patchy sclerosis of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009305 name: Symphalangism affecting the distal phalanx of the 4th finger namespace: medical_genetics def: "Fusion of the distal phalanx of the 4th finger with another bone." [HPO:curators] is_a: HP:0004197 ! Symphalangism of the 4th finger is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009841 ! Symphalangism affecting the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009306 name: Triangular shaped distal phalanx of the 4th finger namespace: medical_genetics def: "Triangular shaped distal phalanx of the 4th (ring) finger." [HPO:curators] is_a: HP:0009282 ! Abnormality of the distal phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:41:33Z [Term] id: HP:0009307 name: Patchy sclerosis of the middle phalanx of the 4th finger namespace: medical_genetics def: "Patchy increase in bone density of the middle phalanx of the 4th finger." [HPO:curators] is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of the phalanges of the 4th finger is_a: HP:0009848 ! Patchy sclerosis of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009308 name: Symphalangism affecting the middle phalanx of the 4th finger namespace: medical_genetics def: "Fusion of the middle phalanx of the 4th finger with another bone." [HPO:curators] is_a: HP:0004197 ! Symphalangism of the 4th finger is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009849 ! Symphalangism affecting the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009309 name: Triangular shaped middle phalanx of the 4th finger namespace: medical_genetics def: "Triangular shaped middle phalanx of the 4th (ring) finger." [HPO:curators] is_a: HP:0009283 ! Abnormality of the middle phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-08T04:59:22Z [Term] id: HP:0009310 name: Broad proximal phalanx of the 4th finger namespace: medical_genetics def: "Increased width of the proximal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009404 ! Broad phalanges of the 4th finger is_a: HP:0009852 ! Broad proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009311 name: Bullet-shaped proximal phalanx of the 4th finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 4th finger is affected." [HPO:curators] is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009405 ! Bullet-shaped phalanges of the 4th finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009312 name: Osteolytic defects of the proximal phalanx of the 4th finger namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 4th finger." [HPO:curators] is_a: HP:0004195 ! Osteolytic defects of the phalanges of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009313 name: Patchy sclerosis of the proximal phalanx of the 4th finger namespace: medical_genetics def: "Patchy increase in bone density of the proximal phalanx of the 4th finger." [HPO:curators] is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009406 ! Patchy sclerosis of the phalanges of the 4th finger is_a: HP:0009856 ! Patchy sclerosis of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009314 name: Symphalangism affecting the proximal phalanx of the 4th finger namespace: medical_genetics def: "Fusion of the proximal phalanx of the 4th finger with another bone." [HPO:curators] is_a: HP:0004197 ! Symphalangism of the 4th finger is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009315 name: Triangular shaped proximal phalanx of the 4th finger namespace: medical_genetics def: "Triangular shaped proximal phalanx of the 4th (ring) finger." [HPO:curators] is_a: HP:0009284 ! Abnormality of the proximal phalanx of the 4th finger is_a: HP:0009407 ! Triangular shaped phalanges of the 4th finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-08T05:11:48Z [Term] id: HP:0009316 name: Abnormality of the phalanges of the 3rd finger namespace: medical_genetics alt_id: HP:0004155 def: "Abnormality of the phalanges of the 3rd (middle) finger." [HPO:curators] synonym: "Abnormality of 3rd finger phalanges" EXACT [] synonym: "Abnormality of middle finger phalanges" EXACT [] is_a: HP:0004150 ! Abnormality of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:00:24Z [Term] id: HP:0009317 name: Deviation of the 3rd finger namespace: medical_genetics alt_id: HP:0004152 def: "Displacement of the 3rd finger from its normal position." [HPO:curators] synonym: "Deviated middle finger" EXACT [] is_a: HP:0004097 ! Deviated fingers is_a: HP:0004150 ! Abnormality of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:02:27Z [Term] id: HP:0009318 name: Aplasia/Hypoplasia of the 3rd finger namespace: medical_genetics def: "A small/hypoplastic or absent/aplastic 3rd (middle) finger." [HPO:curators] is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-12T11:04:08Z [Term] id: HP:0009319 name: Joint contractures of the 3rd finger namespace: medical_genetics alt_id: HP:0004151 def: "Chronic loss of joint motion in the 3rd finger due to structural changes in non-bony tissue. The term camptodactyly of the 3rd finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:curators] synonym: "Camptodactyly of middle finger" EXACT [] is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0009472 ! Joint contractures of the fingers created_by: doelkens creation_date: 2009-01-12T11:05:43Z [Term] id: HP:0009320 name: Abnormality of the epiphyses of the 3rd finger namespace: medical_genetics def: "Abnormality of one or all of the epiphyses of the proximal, middle, and distal phalanges of the 3rd finger." [HPO:curators] is_a: HP:0004150 ! Abnormality of the 3rd finger is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-12T11:07:00Z [Term] id: HP:0009321 name: Absent epiphysis of the middle phalanx of the 3rd finger namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009322 name: Bracket epiphysis of the middle phalanx of the 3rd finger namespace: medical_genetics def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009323 name: Cone-shaped epiphysis of the middle phalanx of the 3rd finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009324 name: Enlarged epiphysis of the middle phalanx of the 3rd finger namespace: medical_genetics def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009325 name: Fragmentation of the epiphysis of the middle phalanx of the 3rd finger namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009326 name: Irregular epiphysis of the middle phalanx of the 3rd finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009327 name: Ivory epiphysis of the middle phalanx of the 3rd finger namespace: medical_genetics def: "Sclerosis of the epiphysis of the middle phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009328 name: Pseudoepiphysis of the middle phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004176 def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] synonym: "Pseudoepiphyses of middle phalanx of middle-finger" EXACT [] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009329 name: Small epiphysis of the middle phalanx of the 3rd finger namespace: medical_genetics def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009330 name: Stippling of the epiphysis of the middle phalanx of the 3rd finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of 3rd finger created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009331 name: Triangular epiphysis of the middle phalanx of the 3rd finger namespace: medical_genetics def: "A triangular appearance of the epiphysis of the middle phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the middle phalanx of the 3rd finger" EXACT [] is_a: HP:0009334 ! Abnormality of the epiphysis of the middle phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:15:44Z [Term] id: HP:0009332 name: Abnormality of the epiphysis of the distal phalanx of the 3rd finger namespace: medical_genetics is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:16:06Z [Term] id: HP:0009333 name: Abnormality of the epiphysis of the proximal phalanx of the 3rd finger namespace: medical_genetics is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:16:44Z [Term] id: HP:0009334 name: Abnormality of the epiphysis of the middle phalanx of the 3rd finger namespace: medical_genetics is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:16:44Z [Term] id: HP:0009335 name: Absent epiphysis of the distal phalanx of the 3rd finger namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009336 name: Bracket epiphysis of the distal phalanx of the 3rd finger namespace: medical_genetics def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009337 name: Cone-shaped epiphysis of the distal phalanx of the 3rd finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009338 name: Enlarged epiphysis of the distal phalanx of the 3rd finger namespace: medical_genetics def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009339 name: Fragmentation of the epiphysis of the distal phalanx of the 3rd finger namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009340 name: Irregular epiphysis of the distal phalanx of the 3rd finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009341 name: Ivory epiphysis of the distal phalanx of the 3rd finger namespace: medical_genetics def: "Sclerosis of the epiphysis of the distal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009342 name: Pseudoepiphysis of the distal phalanx of the 3rd finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009343 name: Small epiphysis of the distal phalanx of the 3rd finger namespace: medical_genetics def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009344 name: Stippling of the epiphysis of the distal phalanx of the 3rd finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of 3rd finger created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009345 name: Triangular epiphysis of the distal phalanx of the 3rd finger namespace: medical_genetics def: "A triangular appearance of the epiphysis of the distal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the distal phalanx of the 3rd finger" EXACT [] is_a: HP:0009332 ! Abnormality of the epiphysis of the distal phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:18:33Z [Term] id: HP:0009346 name: Absent epiphysis of the proximal phalanx of the 3rd finger namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009410 ! Absent epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009347 name: Bracket epiphysis of the proximal phalanx of the 3rd finger namespace: medical_genetics def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009411 ! Bracket epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009348 name: Cone-shaped epiphysis of the proximal phalanx of the 3rd finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009412 ! Cone-shaped epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009349 name: Enlarged epiphysis of the proximal phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004171 def: "Abnormally large size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] synonym: "Large epiphysis of proximal middle-finger phalanx" EXACT [] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009413 ! Enlarged epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009350 name: Fragmentation of the epiphysis of the proximal phalanx of the 3rd finger namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009414 ! Fragmentation of the epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009351 name: Irregular epiphysis of the proximal phalanx of the 3rd finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009415 ! Irregular epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009352 name: Ivory epiphysis of the proximal phalanx of the 3rd finger namespace: medical_genetics def: "Sclerosis of the epiphysis of the proximal phalanx of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009416 ! Ivory epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009353 name: Pseudoepiphysis of the proximal phalanx of the 3rd finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009417 ! Pseudoepiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009354 name: Small epiphysis of the proximal phalanx of the 3rd finger namespace: medical_genetics def: "Abnormally small size of the epiphysis located at the proximal end of the proximal phalanx of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009418 ! Small epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009355 name: Stippling of the epiphysis of the proximal phalanx of the 3rd finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009419 ! Stippling of the epiphyses of 3rd finger created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009356 name: Triangular epiphysis of the proximal phalanx of the 3rd finger namespace: medical_genetics def: "A triangular appearance of the epiphysis of the proximal phalanx of the 3rd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] synonym: "Delta-shaped epiphysis of the proximal phalanx of the 3rd finger" EXACT [] is_a: HP:0009333 ! Abnormality of the epiphysis of the proximal phalanx of the 3rd finger is_a: HP:0009420 ! Triangular epiphyses of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:19:03Z [Term] id: HP:0009357 name: Abnormality of the distal phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004179 synonym: "Abnormality of terminal phalanx of middle-finger" EXACT [] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:40:58Z [Term] id: HP:0009358 name: Abnormality of the proximal phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004167 synonym: "Abnormality of proximal middle-finger phalanx" EXACT [] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger created_by: doelkens creation_date: 2009-01-12T11:42:37Z [Term] id: HP:0009359 name: Absent epiphyses of the fingers namespace: medical_genetics def: "Absence of one or more epiphyses of the fingers." [HPO:curators] is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T09:22:53Z [Term] id: HP:0009360 name: Bracket epiphyses of the fingers namespace: medical_genetics def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T09:22:53Z [Term] id: HP:0009361 name: Cone-shaped epiphyses of the fingers namespace: medical_genetics def: "A cone-shaped appearance of the epiphyses of the fingers of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T09:22:53Z [Term] id: HP:0009362 name: Enlarged epiphyses of the fingers namespace: medical_genetics def: "Abnormally large size of the epiphyses of the fingers with respect to age-dependent norms." [HPO:curators] is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T09:22:53Z [Term] id: HP:0009363 name: Fragmentation of the epiphyses of the fingers namespace: medical_genetics def: "Fragmented appearance of the epiphyses of the fingers." [HPO:curators] is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T09:22:53Z [Term] id: HP:0009364 name: Irregular epiphyses of the fingers namespace: medical_genetics def: "Irregular radiographic opacity of the epiphyses of the fingers." [HPO:curators] is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T09:22:53Z [Term] id: HP:0009365 name: Ivory epiphyses of the fingers namespace: medical_genetics def: "Sclerosis of the epiphyses of the fingers, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T09:22:53Z [Term] id: HP:0009366 name: Pseudoepiphysis of the fingers namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T09:22:53Z [Term] id: HP:0009367 name: Small epiphyses of the fingers namespace: medical_genetics def: "Abnormally small size of the epiphyses of the fingers with respect to age-dependent norms." [HPO:curators] is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T09:22:53Z [Term] id: HP:0009368 name: Stippling of the epiphyses of the fingers namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the fingers." [HPO:curators] is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T09:22:53Z [Term] id: HP:0009369 name: Triangular epiphyses of the fingers namespace: medical_genetics def: "A triangular appearance of the epiphyses of the fingers of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the fingers" EXACT [] is_a: HP:0009151 ! Abnormality of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T09:22:53Z [Term] id: HP:0009370 name: Type A Brachydactyly namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009371 name: Type A1 Brachydactyly namespace: medical_genetics is_a: HP:0009370 ! Type A Brachydactyly created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009372 name: Type A2 Brachydactyly namespace: medical_genetics is_a: HP:0009370 ! Type A Brachydactyly created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009373 name: Type C Brachydactyly namespace: medical_genetics is_a: HP:0001156 ! Brachydactyly created_by: doelkens creation_date: 2009-01-13T10:50:19Z [Term] id: HP:0009374 name: Broad phalanges of the 5th finger namespace: medical_genetics def: "Increased width of the phalanges of the 5th finger." [HPO:curators] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-13T10:55:04Z [Term] id: HP:0009375 name: Bullet-shaped phalanges of the 5th finger namespace: medical_genetics def: "Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-13T10:58:05Z [Term] id: HP:0009376 name: Aplasia/Hypoplasia of the phalanges of the 5th finger namespace: medical_genetics def: "Aplasia/Hypoplasia of the phalanges of the 5th finger." [HPO:curators] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T11:58:25Z [Term] id: HP:0009377 name: Patchy sclerosis of the phalanges of the 5th finger namespace: medical_genetics def: "Patchy increase in bone density of the phalanges of the 5th finger." [HPO:curators] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T12:00:02Z [Term] id: HP:0009378 name: Triangular shaped phalanges of the 5th finger namespace: medical_genetics def: "Triangular shaped phalanges of the 5th (little) finger." [HPO:curators] is_a: HP:0004213 ! Abnormality of the phalanges of the 5th finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-13T12:00:35Z [Term] id: HP:0009379 name: Rhomboid or triangular shaped 5th finger distal phalanx namespace: medical_genetics def: "Rhomboid or triangular shaped 5th (little) finger distal phalanx." [HPO:curators] is_a: HP:0009245 ! Triangular shaped distal phalanx of the 5th finger created_by: doelkens creation_date: 2009-01-13T01:01:44Z [Term] id: HP:0009380 name: Aplasia of the fingers namespace: medical_genetics alt_id: HP:0004093 def: "Aplasia of one or more fingers." [HPO:curators] synonym: "Absent fingers" EXACT [] is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-13T01:05:32Z [Term] id: HP:0009381 name: Hypoplastic/small fingers namespace: medical_genetics alt_id: HP:0004098 alt_id: HP:0006015 synonym: "Hypoplastic digits" EXACT [] synonym: "Hypoplastic fingers" EXACT [] is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-13T01:07:38Z [Term] id: HP:0009382 name: Absent epiphyses of the 5th finger namespace: medical_genetics def: "Absence of one or more epiphyses of the 5th finger." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0009359 ! Absent epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009383 name: Bracket epiphyses of the 5th finger namespace: medical_genetics def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0009360 ! Bracket epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009384 name: Cone-shaped epiphyses of the 5th finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphyses of the 5th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0009361 ! Cone-shaped epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009385 name: Enlarged epiphyses of the 5th finger namespace: medical_genetics def: "Abnormally large size of the epiphyses of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0009362 ! Enlarged epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009386 name: Fragmentation of the epiphyses of the 5th finger namespace: medical_genetics def: "Fragmented appearance of the epiphyses of the 5th finger." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0009363 ! Fragmentation of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009387 name: Irregular epiphyses of the 5th finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphyses of the 5th finger." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0009364 ! Irregular epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009388 name: Ivory epiphyses of the 5th finger namespace: medical_genetics def: "Sclerosis of the epiphyses of the 5th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0009365 ! Ivory epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009389 name: Pseudoepiphyses of the 5th finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0009366 ! Pseudoepiphysis of the fingers created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009390 name: Small epiphyses of the 5th finger namespace: medical_genetics def: "Abnormally small size of the epiphyses of the 5th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0009367 ! Small epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009391 name: Stippling of the epiphyses of 5th finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 5th finger." [HPO:curators] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0009368 ! Stippling of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009392 name: Triangular epiphyses of the 5th finger namespace: medical_genetics def: "A triangular appearance of the epiphyses of the 5th finger of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the 5th finger" EXACT [] is_a: HP:0009152 ! Abnormality of the epiphyses of the 5th finger is_a: HP:0009369 ! Triangular epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:19:03Z [Term] id: HP:0009393 name: Absent epiphyses of the 4th finger namespace: medical_genetics def: "Absence of one or more epiphyses of the 4th finger." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009359 ! Absent epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009394 name: Bracket epiphyses of the 4th finger namespace: medical_genetics def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009360 ! Bracket epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009395 name: Cone-shaped epiphyses of the 4th finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphyses of the 4th finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009361 ! Cone-shaped epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009396 name: Enlarged epiphyses of the 4th finger namespace: medical_genetics def: "Abnormally large size of the epiphyses of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009362 ! Enlarged epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009397 name: Fragmentation of the epiphyses of the 4th finger namespace: medical_genetics def: "Fragmented appearance of the epiphyses of the 4th finger." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009363 ! Fragmentation of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009398 name: Irregular epiphyses of the 4th finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphyses of the 4th finger." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009364 ! Irregular epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009399 name: Ivory epiphyses of the 4th finger namespace: medical_genetics def: "Sclerosis of the epiphyses of the 4th finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009365 ! Ivory epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009400 name: Pseudoepiphyses of the 4th finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009366 ! Pseudoepiphysis of the fingers created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009401 name: Small epiphyses of the 4th finger namespace: medical_genetics def: "Abnormally small size of the epiphyses of the 4th finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009367 ! Small epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009402 name: Stippling of the epiphyses of 4th finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 4th finger." [HPO:curators] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009368 ! Stippling of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009403 name: Triangular epiphyses of the 4th finger namespace: medical_genetics def: "A triangular appearance of the epiphyses of the 4th finger of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the 4th finger" EXACT [] is_a: HP:0009174 ! Abnormality of the epiphyses of the 4th finger is_a: HP:0009369 ! Triangular epiphyses of the fingers created_by: doelkens creation_date: 2009-01-13T01:59:12Z [Term] id: HP:0009404 name: Broad phalanges of the 4th finger namespace: medical_genetics def: "Increased width of the phalanges of the 4th finger." [HPO:curators] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009405 name: Bullet-shaped phalanges of the 4th finger namespace: medical_genetics def: "Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009406 name: Patchy sclerosis of the phalanges of the 4th finger namespace: medical_genetics def: "Patchy increase in bone density of the phalanges of the 4th finger." [HPO:curators] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009407 name: Triangular shaped phalanges of the 4th finger namespace: medical_genetics def: "Triangular shaped phalanges of the 4th finger." [HPO:curators] is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009408 name: Aplasia/Hypoplasia of the phalanges of the 4th finger namespace: medical_genetics is_a: HP:0009172 ! Abnormality of the phalanges of the 4th finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-13T02:37:29Z [Term] id: HP:0009410 name: Absent epiphyses of the 3rd finger namespace: medical_genetics def: "Absence of the epiphyses of the 3rd finger." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009359 ! Absent epiphyses of the fingers created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009411 name: Bracket epiphyses of the 3rd finger namespace: medical_genetics def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009360 ! Bracket epiphyses of the fingers created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009412 name: Cone-shaped epiphyses of the 3rd finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphyses of the 3rd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009361 ! Cone-shaped epiphyses of the fingers created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009413 name: Enlarged epiphyses of the 3rd finger namespace: medical_genetics def: "Abnormally large size of the epiphyses of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009362 ! Enlarged epiphyses of the fingers created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009414 name: Fragmentation of the epiphyses of the 3rd finger namespace: medical_genetics def: "Fragmented appearance of the epiphyses of the 3rd finger." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009363 ! Fragmentation of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009415 name: Irregular epiphyses of the 3rd finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphyses of the 3rd finger." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009364 ! Irregular epiphyses of the fingers created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009416 name: Ivory epiphyses of the 3rd finger namespace: medical_genetics def: "Sclerosis of the epiphyses of the 3rd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009365 ! Ivory epiphyses of the fingers created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009417 name: Pseudoepiphyses of the 3rd finger namespace: medical_genetics alt_id: HP:0004163 def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] synonym: "Pseudoepiphyses of middle finger phalanges" EXACT [] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009366 ! Pseudoepiphysis of the fingers created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009418 name: Small epiphyses of the 3rd finger namespace: medical_genetics def: "Abnormally small size of the epiphyses of the 3rd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009367 ! Small epiphyses of the fingers created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009419 name: Stippling of the epiphyses of 3rd finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 3rd finger." [HPO:curators] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009368 ! Stippling of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009420 name: Triangular epiphyses of the 3rd finger namespace: medical_genetics def: "A triangular appearance of the epiphyses of the 3rd finger of the hand." [HPO:curators] synonym: "Delta-shaped epiphyses of the 3rd finger" EXACT [] is_a: HP:0009320 ! Abnormality of the epiphyses of the 3rd finger is_a: HP:0009369 ! Triangular epiphyses of the fingers created_by: doelkens creation_date: 2009-01-14T02:01:59Z [Term] id: HP:0009421 name: Aplasia/Hypoplasia of the distal phalanx of the 3rd finger namespace: medical_genetics is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009422 name: Broad distal phalanx of the 3rd finger namespace: medical_genetics def: "Increased width of the distal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger is_a: HP:0009836 ! Broad distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009423 name: Bullet-shaped distal phalanx of the 3rd finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 3rd finger is affected." [HPO:curators] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009424 name: Osteolytic defects of the distal phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004181 def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 3rd finger." [HPO:curators] synonym: "Lytic defectof terminal phalanx of middle finger" EXACT [] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009425 name: Patchy sclerosis of the distal phalanx of the 3rd finger namespace: medical_genetics def: "Patchy increase in bone density of the distal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of the phalanges of the 3rd finger is_a: HP:0009840 ! Patchy sclerosis of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009426 name: Symphalangism affecting the distal phalanx of the 3rd finger namespace: medical_genetics def: "Fusion of the distal phalanx of the 3rd finger with another bone." [HPO:curators] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009445 ! Symphalangism of the 3rd finger is_a: HP:0009841 ! Symphalangism affecting the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009427 name: Triangular shaped distal phalanx of the 3rd finger namespace: medical_genetics def: "Triangular shaped distal phalanx of the 3rd (middle) finger." [HPO:curators] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009428 name: Curved distal phalanx of the 3rd finger namespace: medical_genetics def: "Curved appearance of the distal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009357 ! Abnormality of the distal phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger is_a: HP:0009838 ! Curved distal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:16:46Z [Term] id: HP:0009429 name: Aplasia of the distal phalanx of the 3rd finger namespace: medical_genetics def: "Absence of the distal phalanx of the middle (3rd) finger." [HPO:curators] is_a: HP:0009421 ! Aplasia/Hypoplasia of the distal phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger created_by: doelkens creation_date: 2009-01-14T03:18:42Z [Term] id: HP:0009430 name: Broad middle phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004178 def: "Increased width of the middle phalanx of the 3rd finger." [HPO:curators] synonym: "Wide/broad middle phalanx of middle-finger" EXACT [] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger is_a: HP:0009844 ! Broad middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009431 name: Bullet-shaped middle phalanx of the 3rd finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 3rd finger is affected." [HPO:curators] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009432 name: Curved middle phalanx of the 3rd finger namespace: medical_genetics def: "Curved appearance of the middle phalanx of the 3rd (middle) finger." [HPO:curators] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger is_a: HP:0009846 ! Curved middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009433 name: Osteolytic defects of the middle phalanx of the 3rd finger namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 3rd finger." [HPO:curators] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009434 name: Patchy sclerosis of the middle phalanx of the 3rd finger namespace: medical_genetics def: "Patchy increase in bone density of the middle phalanx of the 3rd finger." [HPO:curators] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of the phalanges of the 3rd finger is_a: HP:0009848 ! Patchy sclerosis of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009435 name: Symphalangism affecting the middle phalanx of the 3rd finger namespace: medical_genetics def: "Fusion of the middle phalanx of the 3rd finger with another bone." [HPO:curators] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009445 ! Symphalangism of the 3rd finger is_a: HP:0009849 ! Symphalangism affecting the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009436 name: Triangular shaped middle phalanx of the 3rd finger namespace: medical_genetics def: "Triangular shaped middle phalanx of the 3rd (middle) finger." [HPO:curators] is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009437 name: Aplasia/Hypoplasia of the middle phalanx of the 3rd finger namespace: medical_genetics is_a: HP:0004172 ! Abnormality of the middle phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger created_by: doelkens creation_date: 2009-01-14T03:41:31Z [Term] id: HP:0009438 name: Aplasia of the middle phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004173 def: "Absence of the middle phalanx of the middle (3rd) finger." [HPO:curators] synonym: "Absent middle phalanx of middle finger" EXACT [] is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger created_by: doelkens creation_date: 2009-01-14T03:45:02Z [Term] id: HP:0009439 name: Hypoplastic/small middle phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004177 def: "Hypoplastic/small middle phalanx of the 3rd (middle) finger." [HPO:curators] synonym: "Short middle phalanx of middle finger" EXACT [] is_a: HP:0009437 ! Aplasia/Hypoplasia of the middle phalanx of the 3rd finger is_a: HP:0009461 ! Hypoplastic/small 3rd finger created_by: doelkens creation_date: 2009-01-14T03:45:02Z [Term] id: HP:0009440 name: Broad phalanges of the 3rd finger namespace: medical_genetics alt_id: HP:0004166 def: "Increased width of the phalanges of the 3rd finger." [HPO:curators] synonym: "Wide/broad middle finger phalanges" EXACT [] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009441 name: Bullet-shaped phalanges of the 3rd finger namespace: medical_genetics def: "Bullet-shaped phalanges refers to short and wide phalanges that taper distally . Bullet-shaped phalanges lack the normal diaphyseal constriction." [HPO:curators] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009442 name: Curved phalanges of the 3rd finger namespace: medical_genetics def: "Curved appearance of the phalanges of the 3rd finger." [HPO:curators] is_a: HP:0004095 ! Curved fingers is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009770 ! Curved phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009443 name: Osteolytic defects of the phalanges of the 3rd finger namespace: medical_genetics alt_id: HP:0004159 def: "Dissolution or degeneration of bone tissue of the phalanges of the 3rd finger." [HPO:curators] synonym: "Lytic defects of middle finger phalanges" EXACT [] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009699 ! Osteolytic defects of the hand bones is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009444 name: Patchy sclerosis of the phalanges of the 3rd finger namespace: medical_genetics alt_id: HP:0004160 def: "Patchy increase in bone density of the phalanges of the 3rd finger." [HPO:curators] synonym: "Patchy sclerosis of middle finger phalanges" EXACT [] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009445 name: Symphalangism of the 3rd finger namespace: medical_genetics def: "Fusion of two or more bones of the 3rd finger." [HPO:curators] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009446 name: Triangular shaped phalanges of the 3rd finger namespace: medical_genetics def: "Triangular shaped phalanges of the 3rd finger." [HPO:curators] is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009447 name: Aplasia/Hypoplasia of the phalanges of the 3rd finger namespace: medical_genetics is_a: HP:0009316 ! Abnormality of the phalanges of the 3rd finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:09:01Z [Term] id: HP:0009448 name: Aplasia of the phalanges of the 3rd finger namespace: medical_genetics alt_id: HP:0004156 synonym: "Absent middle finger phalanges" EXACT [] is_obsolete: true created_by: doelkens creation_date: 2009-01-14T04:11:21Z [Term] id: HP:0009449 name: Hypoplastic/small phalanges of the 3rd finger namespace: medical_genetics alt_id: HP:0004158 alt_id: HP:0004164 alt_id: HP:0004165 synonym: "Hypoplastic middle finger phalanges" EXACT [] synonym: "Short middle finger phalanges" EXACT [] synonym: "Small middle finger phalanges" EXACT [] is_obsolete: true created_by: doelkens creation_date: 2009-01-14T04:11:21Z [Term] id: HP:0009450 name: Broad proximal phalanx of the 3rd finger namespace: medical_genetics def: "Increased width of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009440 ! Broad phalanges of the 3rd finger is_a: HP:0009852 ! Broad proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009451 name: Bullet-shaped proximal phalanx of the 3rd finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 3rd finger is affected." [HPO:curators] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009441 ! Bullet-shaped phalanges of the 3rd finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009452 name: Curved proximal phalanx of the 3rd finger namespace: medical_genetics def: "Curved appearance of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009442 ! Curved phalanges of the 3rd finger is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009453 name: Osteolytic defects of the proximal phalanx of the 3rd finger namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009443 ! Osteolytic defects of the phalanges of the 3rd finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009454 name: Patchy sclerosis of the proximal phalanx of the 3rd finger namespace: medical_genetics def: "Patchy increase in bone density of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009444 ! Patchy sclerosis of the phalanges of the 3rd finger is_a: HP:0009856 ! Patchy sclerosis of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009455 name: Symphalangism affecting the proximal phalanx of the 3rd finger namespace: medical_genetics def: "Fusion of the proximal phalanx of the 3rd finger with another bone." [HPO:curators] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009445 ! Symphalangism of the 3rd finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009456 name: Triangular shaped proximal phalanx of the 3rd finger namespace: medical_genetics def: "Triangular shaped proximal phalanx of the 3rd (middle) finger." [HPO:curators] is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009446 ! Triangular shaped phalanges of the 3rd finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-14T04:33:41Z [Term] id: HP:0009457 name: Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger namespace: medical_genetics is_a: HP:0009358 ! Abnormality of the proximal phalanx of the 3rd finger is_a: HP:0009447 ! Aplasia/Hypoplasia of the phalanges of the 3rd finger created_by: doelkens creation_date: 2009-01-14T04:34:45Z [Term] id: HP:0009458 name: Aplasia of the proximal phalanx of the 3rd finger namespace: medical_genetics def: "Absence of the proximal phalanx of the 3rd finger." [HPO:curators] is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger is_a: HP:0009460 ! Aplasia of the 3rd finger created_by: doelkens creation_date: 2009-01-14T04:35:28Z [Term] id: HP:0009459 name: Hypoplastic/small proximal phalanx of the 3rd finger namespace: medical_genetics alt_id: HP:0004169 alt_id: HP:0004170 def: "Hypoplastic/small proximal phalanx of the 3rd (middle) finger." [HPO:curators] synonym: "Short proximal middle-finger phalanx" EXACT [] synonym: "Small proximal middle-finger phalanx" EXACT [] is_a: HP:0009457 ! Aplasia/Hypoplasia of the proximal phalanx of the 3rd finger is_a: HP:0009461 ! Hypoplastic/small 3rd finger created_by: doelkens creation_date: 2009-01-14T04:35:28Z [Term] id: HP:0009460 name: Aplasia of the 3rd finger namespace: medical_genetics def: "Absent 3rd finger." [HPO:curators] is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-01-14T04:56:33Z [Term] id: HP:0009461 name: Hypoplastic/small 3rd finger namespace: medical_genetics alt_id: HP:0004154 def: "Hypoplastic/small 3rd (middle) finger." [HPO:curators] synonym: "Short middle finger" EXACT [] is_a: HP:0009318 ! Aplasia/Hypoplasia of the 3rd finger is_a: HP:0009381 ! Hypoplastic/small fingers created_by: doelkens creation_date: 2009-01-14T04:57:43Z [Term] id: HP:0009462 name: Radial deviation of the 3rd finger namespace: medical_genetics def: "Displacement of the 3rd finger towards the radial side." [HPO:curators] is_a: HP:0009317 ! Deviation of the 3rd finger is_a: HP:0009466 ! Radial deviation of fingers created_by: doelkens creation_date: 2009-01-15T09:35:10Z [Term] id: HP:0009463 name: Ulnar deviation of the 3rd finger namespace: medical_genetics alt_id: HP:0005865 def: "Displacement of the 3rd finger towards the ulnar side." [HPO:curators] synonym: "Ulnar deviation of middle fingers" EXACT [] is_a: HP:0009317 ! Deviation of the 3rd finger is_a: HP:0009465 ! Ulnar deviation of fingers created_by: doelkens creation_date: 2009-01-15T09:35:47Z [Term] id: HP:0009464 name: Ulnar deviation of the 2nd finger namespace: medical_genetics alt_id: HP:0004102 def: "Displacement of the 2nd (index) finger towards the ulnar side." [HPO:curators] synonym: "Medially deviated index finger" EXACT [] is_a: HP:0009465 ! Ulnar deviation of fingers is_a: HP:0009468 ! Deviation of the 2nd finger created_by: doelkens creation_date: 2009-01-15T09:37:48Z [Term] id: HP:0009465 name: Ulnar deviation of fingers namespace: medical_genetics alt_id: HP:0001200 alt_id: HP:0004096 synonym: "Medially deviated fingers" EXACT [] is_a: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand is_a: HP:0004097 ! Deviated fingers created_by: doelkens creation_date: 2009-01-15T09:39:43Z [Term] id: HP:0009466 name: Radial deviation of fingers namespace: medical_genetics alt_id: HP:0001503 synonym: "Radially deviated fingers" EXACT [] synonym: "Radially deviated phalanges" EXACT [] is_a: HP:0004097 ! Deviated fingers is_a: HP:0009485 ! Radial deviation of the hand or of fingers of the hand created_by: doelkens creation_date: 2009-01-15T09:40:27Z [Term] id: HP:0009467 name: Radial deviation of the 2nd finger namespace: medical_genetics alt_id: HP:0004103 def: "Displacement of the 2nd finger towards the radial side." [HPO:curators] synonym: "Radially deviated index finger" EXACT [] is_a: HP:0009466 ! Radial deviation of fingers is_a: HP:0009468 ! Deviation of the 2nd finger created_by: doelkens creation_date: 2009-01-15T09:40:58Z [Term] id: HP:0009468 name: Deviation of the 2nd finger namespace: medical_genetics alt_id: HP:0004101 def: "Displacement of the 2nd finger from its normal position." [HPO:curators] synonym: "Deviated index finger" EXACT [] is_a: HP:0004097 ! Deviated fingers is_a: HP:0004100 ! Abnormality of the 2nd finger created_by: doelkens creation_date: 2009-01-15T09:42:36Z [Term] id: HP:0009469 name: Contracture of the distal interphalangeal joint of the 3rd finger namespace: medical_genetics def: "Chronic loss of joint motion of the distal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:curators] is_a: HP:0009319 ! Joint contractures of the 3rd finger is_a: HP:0009697 ! Contractures of the distal interphalangeal joints of the fingers created_by: doelkens creation_date: 2009-01-15T09:50:20Z [Term] id: HP:0009470 name: Contracture of the metacarpophalangeal joint of the 3rd finger namespace: medical_genetics def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:curators] is_a: HP:0009319 ! Joint contractures of the 3rd finger created_by: doelkens creation_date: 2009-01-15T09:50:20Z [Term] id: HP:0009471 name: Contracture of the proximal interphalangeal joint of the 3rd finger namespace: medical_genetics def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 3rd finger due to structural changes in non-bony tissue." [HPO:curators] is_a: HP:0009319 ! Joint contractures of the 3rd finger is_a: HP:0009698 ! Contractures of the proximal interphalangeal joints of the fingers created_by: doelkens creation_date: 2009-01-15T09:50:20Z [Term] id: HP:0009472 name: Joint contractures of the fingers namespace: medical_genetics alt_id: HP:0001160 alt_id: HP:0001237 alt_id: HP:0004094 alt_id: HP:0006215 alt_id: HP:0006238 alt_id: HP:0009409 def: "Contractures of one ore more joints of the fingers meaning chronic loss of joint motion of digits of the hand due to structural changes in non-bony tissue." [HPO:curators] synonym: "Camptodactyly" EXACT [] synonym: "Contractures of the fingers" EXACT [] synonym: "Finger contractures" EXACT [] synonym: "Flexed fingers" EXACT [] synonym: "Flexion contractures of the digits" EXACT [] synonym: "Flexion contractures of the fingers" EXACT [] synonym: "Flexion deformities of fingers" EXACT [] is_a: HP:0001167 ! Abnormality of the fingers is_a: HP:0004266 ! Abnormality of the small joints of the hand is_a: HP:0009473 ! Joint contractures involving the joints of the hand created_by: doelkens creation_date: 2009-01-15T09:54:38Z [Term] id: HP:0009473 name: Joint contractures involving the joints of the hand namespace: medical_genetics alt_id: HP:0006255 synonym: "Contractures involving the hands" EXACT [] is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001367 ! Abnormality of the joints created_by: doelkens creation_date: 2009-01-15T09:59:59Z [Term] id: HP:0009475 name: Symphalangism of the distal and middle phalanges of the 4th finger namespace: medical_genetics alt_id: HP:0009474 def: "Fusion of the terminal/distal and middle phalanges of the 4th finger." [HPO:curators] is_a: HP:0009305 ! Symphalangism affecting the distal phalanx of the 4th finger is_a: HP:0009308 ! Symphalangism affecting the middle phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-15T10:21:47Z [Term] id: HP:0009477 name: Symphalangism of the middle and proximal phalanges of the 4th finger namespace: medical_genetics alt_id: HP:0009476 def: "Fusion of the proximal and middle phalanges of the 4th finger." [HPO:curators] is_a: HP:0009308 ! Symphalangism affecting the middle phalanx of the 4th finger is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger created_by: doelkens creation_date: 2009-01-15T10:24:03Z [Term] id: HP:0009478 name: Symphalangism of the proximal phalanx of the 4th finger with the 4th metatcarpal namespace: medical_genetics def: "Fusion of the proximal phalanx of the 4th finger with the 4th metacarpal." [HPO:curators] is_a: HP:0005880 ! Metacarpophalangeal synostoses is_a: HP:0009314 ! Symphalangism affecting the proximal phalanx of the 4th finger is_a: HP:0009707 ! Synostosis involving the 4th metacarpal created_by: doelkens creation_date: 2009-01-15T10:24:03Z [Term] id: HP:0009480 name: Symphalangism of the distal and middle phalanges of the 3rd finger namespace: medical_genetics alt_id: HP:0009479 def: "Fusion of the terminal/distal and middle phalanges of the 3rd finger." [HPO:curators] is_a: HP:0009426 ! Symphalangism affecting the distal phalanx of the 3rd finger is_a: HP:0009435 ! Symphalangism affecting the middle phalanx of the 3rd finger created_by: doelkens creation_date: 2009-01-15T10:27:20Z [Term] id: HP:0009482 name: Symphalangism of the middle and proximal phalanges of the 3rd finger namespace: medical_genetics alt_id: HP:0009481 def: "Fusion of the proximal and middle phalanges of the 3rd finger." [HPO:curators] is_a: HP:0009435 ! Symphalangism affecting the middle phalanx of the 3rd finger is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger created_by: doelkens creation_date: 2009-01-15T10:29:08Z [Term] id: HP:0009483 name: Symphalangism of the proximal phalanx of the 3rd finger with the 3rd metatcarpal namespace: medical_genetics def: "Fusion of the proximal phalanx of the 3rd finger with the 3rd metacarpal." [HPO:curators] is_a: HP:0005880 ! Metacarpophalangeal synostoses is_a: HP:0009455 ! Symphalangism affecting the proximal phalanx of the 3rd finger is_a: HP:0009706 ! Synostosis involving the 3rd metacarpal created_by: doelkens creation_date: 2009-01-15T10:29:08Z [Term] id: HP:0009484 name: Deviation of the hand or of fingers of the hand namespace: medical_genetics def: "Displacement of the hand or of fingers of the hand from their normal position." [HPO:curators] is_a: HP:0001155 ! Abnormality of the hand created_by: doelkens creation_date: 2009-01-15T10:45:01Z [Term] id: HP:0009485 name: Radial deviation of the hand or of fingers of the hand namespace: medical_genetics is_a: HP:0009484 ! Deviation of the hand or of fingers of the hand created_by: doelkens creation_date: 2009-01-15T10:49:51Z [Term] id: HP:0009486 name: Radial deviation of the hand namespace: medical_genetics alt_id: HP:0001203 def: "An abnormal position of the hand in which the wrist is bent toward the radius (i.e., toward the thumb)." [HPO:curators] synonym: "Radial deviation of hands" EXACT [] is_a: HP:0009485 ! Radial deviation of the hand or of fingers of the hand created_by: doelkens creation_date: 2009-01-15T10:51:21Z [Term] id: HP:0009487 name: Ulnar deviation of the hand namespace: medical_genetics is_a: HP:0001193 ! Ulnar deviation of the hand or of fingers of the hand created_by: doelkens creation_date: 2009-01-15T10:51:52Z [Term] id: HP:0009488 name: Absent epiphyses of the 2nd finger namespace: medical_genetics def: "Absence of the epiphyses of the 2nd finger." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009359 ! Absent epiphyses of the fingers created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009489 name: Bracket epiphyses of the 2nd finger namespace: medical_genetics alt_id: HP:0004109 def: "Bracket epiphysis refers to an abnormality in which the epiphysis surrounds a phalangeal bone, having a bracket-like form and reaching from the proximal side of a phalanx to the distal side." [HPO:curators] synonym: "Bracket-epiphyses (index finger)" EXACT [] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009360 ! Bracket epiphyses of the fingers created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009490 name: Cone-shaped epiphyses of the 2nd finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphyses of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of a phalanx." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009361 ! Cone-shaped epiphyses of the fingers created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009491 name: Enlarged epiphyses of the 2nd finger namespace: medical_genetics def: "Abnormally large size of the epiphyses of the 2nd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009362 ! Enlarged epiphyses of the fingers created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009492 name: Fragmentation of the epiphyses of the 2nd finger namespace: medical_genetics def: "Fragmented appearance of the epiphyses of the 2nd finger." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009363 ! Fragmentation of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009493 name: Irregular epiphyses of the 2nd finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphyses of the 2nd finger." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009364 ! Irregular epiphyses of the fingers created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009494 name: Ivory epiphyses of the 2nd finger namespace: medical_genetics def: "Sclerosis of the epiphyses of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009365 ! Ivory epiphyses of the fingers created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009495 name: Pseudoepiphyses of the 2nd finger namespace: medical_genetics alt_id: HP:0004107 alt_id: HP:0006142 def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] synonym: "Accessory index finger phalanges" EXACT [] synonym: "Hyperphalangy of index finger" EXACT [] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009366 ! Pseudoepiphysis of the fingers created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009496 name: Small epiphyses of the 2nd finger namespace: medical_genetics def: "Abnormally small size of the epiphyses of the 2nd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009367 ! Small epiphyses of the fingers created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009497 name: Stippling of the epiphyses of 2nd finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphyses of the 2nd finger." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009368 ! Stippling of the epiphyses of the fingers created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009498 name: Triangular epiphyses of the 2nd finger namespace: medical_genetics def: "A triangular appearance of the epiphyses of the 2nd finger of the hand." [HPO:curators] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009369 ! Triangular epiphyses of the fingers created_by: doelkens creation_date: 2009-01-16T01:07:16Z [Term] id: HP:0009499 name: Abnormality of the epiphysis of the distal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004146 synonym: "Epiphyseal abnormality of terminal index finger phalanx" EXACT [] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:08:35Z [Term] id: HP:0009500 name: Abnormality of the epiphysis of the middle phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004135 synonym: "Epiphyseal abnormality of middle phalanx of the 2nd finger" EXACT [] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:08:35Z [Term] id: HP:0009501 name: Abnormality of the epiphysis of the proximal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004127 synonym: "Epiphyseal abnormality of the proximal phalanx of the 2nd finger" EXACT [] is_a: HP:0006263 ! Abnormality of the epiphyses of the 2nd finger is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:08:35Z [Term] id: HP:0009502 name: Absent epiphysis of the distal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004147 def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger." [HPO:curators] synonym: "Absent ossification/absent epiphysis of terminal index finger phalanx" EXACT [] is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009503 name: Bracket epiphysis of the distal phalanx of the 2nd finger namespace: medical_genetics def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009504 name: Cone-shaped epiphysis of the distal phalanx of the 2nd finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009505 name: Enlarged epiphysis of the distal phalanx of the 2nd finger namespace: medical_genetics def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009506 name: Fragmentation of the epiphysis of the distal phalanx of the 2nd finger namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009507 name: Irregular epiphysis of the distal phalanx of the 2nd finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009508 name: Ivory epiphysis of the distal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004148 def: "Sclerosis of the epiphysis of the distal phalanx of the 2nd finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] synonym: "Ivory epiphysis of terminal index finger phalanx" EXACT [] is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009509 name: Pseudoepiphysis of the distal phalanx of the 2nd finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009495 ! Pseudoepiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009510 name: Small epiphysis of the distal phalanx of the 2nd finger namespace: medical_genetics def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 2nd finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009511 name: Stippling of the epiphysis of the distal phalanx of the 2nd finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009497 ! Stippling of the epiphyses of 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009512 name: Triangular epiphysis of the distal phalanx of the 2nd finger namespace: medical_genetics def: "A triangular appearance of the epiphysis of the distal phalanx of the 2nd finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009499 ! Abnormality of the epiphysis of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:11:04Z [Term] id: HP:0009513 name: Absent epiphysis of the middle phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004136 synonym: "Absent epiphyses of middle phalanx of index finger" EXACT [] is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009514 name: Bracket epiphysis of the middle phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009515 name: Cone-shaped epiphysis of the middle phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004137 synonym: "Cone-shaped epiphyses of middle phalanx of index finger" EXACT [] is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009516 name: Enlarged epiphysis of the middle phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009517 name: Fragmentation of the epiphysis of the middle phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009518 name: Irregular epiphysis of the middle phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009519 name: Ivory epiphysis of the middle phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009520 name: Pseudoepiphysis of the middle phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009495 ! Pseudoepiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009521 name: Small epiphysis of the middle phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009522 name: Stippling of the epiphysis of the middle phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009497 ! Stippling of the epiphyses of 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009523 name: Triangular epiphysis of the middle phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009500 ! Abnormality of the epiphysis of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:17Z [Term] id: HP:0009524 name: Absent epiphysis of the proximal phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009488 ! Absent epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009525 name: Bracket epiphysis of the proximal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004120 synonym: "Bracket epiphyses of proximal index finger phalanx" EXACT [] is_a: HP:0009489 ! Bracket epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009526 name: Cone-shaped epiphysis of the proximal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004128 synonym: "Cone-shaped epiphysis of proximal index finger phalanx" EXACT [] is_a: HP:0009490 ! Cone-shaped epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009527 name: Enlarged epiphysis of the proximal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004129 synonym: "Large epiphysis of proximal index finger phalanx" EXACT [] is_a: HP:0009491 ! Enlarged epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009528 name: Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009492 ! Fragmentation of the epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009529 name: Irregular epiphysis of the proximal phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009493 ! Irregular epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009530 name: Ivory epiphysis of the proximal phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009494 ! Ivory epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009531 name: Pseudoepiphysis of the proximal phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009495 ! Pseudoepiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009532 name: Small epiphysis of the proximal phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009496 ! Small epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009533 name: Stippling of the epiphysis of the proximal phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009497 ! Stippling of the epiphyses of 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009534 name: Triangular epiphysis of the proximal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004130 synonym: "Triangular epiphysis of proximal index finger phalanx" EXACT [] is_a: HP:0009498 ! Triangular epiphyses of the 2nd finger is_a: HP:0009501 ! Abnormality of the epiphysis of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-16T01:12:34Z [Term] id: HP:0009535 name: Aplasia of the 2nd finger namespace: medical_genetics alt_id: HP:0004106 def: "Absent 2nd (index) finger." [HPO:curators] synonym: "Absent index finger phalanges" EXACT [] synonym: "Aplasia of the index finger" EXACT [] is_a: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-01-19T04:18:22Z [Term] id: HP:0009536 name: Hypoplastic/small 2nd finger namespace: medical_genetics alt_id: HP:0004104 alt_id: HP:0004113 alt_id: HP:0004115 def: "Hypoplastic/small 2nd (index) finger." [HPO:curators] synonym: "Hypoplastic index finger phalanges" EXACT [] synonym: "Hypoplastic/small index finger" EXACT [] synonym: "Short index finger" EXACT [] synonym: "Short index finger phalanges" EXACT [] synonym: "Short index fingers" EXACT [] is_a: HP:0006264 ! Aplasia/Hypoplasia of the 2nd finger is_a: HP:0009381 ! Hypoplastic/small fingers created_by: doelkens creation_date: 2009-01-19T04:18:22Z [Term] id: HP:0009537 name: Joint contractures of the 2nd finger namespace: medical_genetics def: "Chronic loss of joint motion in the 2nd finger due to structural changes in non-bony tissue. The term camptodactyly of the 2nd finger is used if the distal and/or proximal interphalangeal joints are affected." [HPO:curators] synonym: "Camptodactyly of index finger" EXACT [] is_a: HP:0004100 ! Abnormality of the 2nd finger is_a: HP:0009472 ! Joint contractures of the fingers created_by: doelkens creation_date: 2009-01-21T10:10:27Z [Term] id: HP:0009538 name: Contracture of the distal interphalangeal joint of the 2nd finger namespace: medical_genetics def: "Chronic loss of joint motion of the distal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:curators] is_a: HP:0009537 ! Joint contractures of the 2nd finger is_a: HP:0009697 ! Contractures of the distal interphalangeal joints of the fingers created_by: doelkens creation_date: 2009-01-21T10:11:49Z [Term] id: HP:0009539 name: Contracture of the metacarpophalangeal joint of the 2nd finger namespace: medical_genetics def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:curators] is_a: HP:0009537 ! Joint contractures of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:11:49Z [Term] id: HP:0009540 name: Contracture of the proximal interphalangeal joint of the 2nd finger namespace: medical_genetics def: "Chronic loss of joint motion of the proximal interphalangeal joint of the 2nd finger due to structural changes in non-bony tissue." [HPO:curators] is_a: HP:0009537 ! Joint contractures of the 2nd finger is_a: HP:0009698 ! Contractures of the proximal interphalangeal joints of the fingers created_by: doelkens creation_date: 2009-01-21T10:11:49Z [Term] id: HP:0009541 name: Abnormality of the phalanges of the 2nd finger namespace: medical_genetics alt_id: HP:0004105 def: "Abnormality of the phalanges of the 2nd (index) finger." [HPO:curators] synonym: "Abnormality of 2nd finger phalanges" EXACT [] is_a: HP:0004100 ! Abnormality of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:15:07Z [Term] id: HP:0009542 name: Abnormality of the distal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004140 synonym: "Abnormality of terminal index finger phalanx" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:17:15Z [Term] id: HP:0009543 name: Abnormality of the middle phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004131 synonym: "Abnormality of middle 2nd finger phalanx" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:17:15Z [Term] id: HP:0009544 name: Abnormality of the proximal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004119 synonym: "Abnormality of the proximal 2nd finger phalanx" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-21T10:17:15Z [Term] id: HP:0009545 name: Symphalangism of the 2nd finger namespace: medical_genetics alt_id: HP:0004116 synonym: "Symphalangism of index finger phalanges" EXACT [] is_a: HP:0001159 ! Syndactyly is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:19:34Z [Term] id: HP:0009546 name: Triangular shaped phalanges of the 2nd finger namespace: medical_genetics alt_id: HP:0004117 synonym: "Triangular index finger phalanges" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:19:34Z [Term] id: HP:0009547 name: Broad phalanges of the 2nd finger namespace: medical_genetics alt_id: HP:0004118 synonym: "Wide/broad index finger phalanges" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:19:34Z [Term] id: HP:0009548 name: Bullet-shaped phalanges of the 2nd finger namespace: medical_genetics is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009549 name: Curved phalanges of the 2nd finger namespace: medical_genetics is_a: HP:0004095 ! Curved fingers is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009770 ! Curved phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009550 name: Osteolytic defects of the phalanges of the 2nd finger namespace: medical_genetics alt_id: HP:0004114 synonym: "Lytic defect in index finger phalanges" EXACT [] is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009699 ! Osteolytic defects of the hand bones is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009551 name: Patchy sclerosis of the phalanges of the 2nd finger namespace: medical_genetics is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009552 name: Aplasia/Hypoplasia of the phalanges of the 2nd finger namespace: medical_genetics is_a: HP:0009541 ! Abnormality of the phalanges of the 2nd finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-21T10:20:26Z [Term] id: HP:0009553 name: Abnormality of the hairline namespace: medical_genetics def: "The hairline refers to the outline of scalp hair. An abnormality of the hairline can refer to an unusually low or high border between areas of the scalp with and without hair or to abnormal projections of scalp hair." [HPO:curators] is_a: HP:0001595 ! Hair abnormality created_by: peter creation_date: 2009-01-21T05:19:14Z [Term] id: HP:0009554 name: Projection of scalp hair onto lateral cheek namespace: medical_genetics def: "An tongue-like extension of hair towards the cheeks." [HPO:curators] is_a: HP:0009553 ! Abnormality of the hairline created_by: peter creation_date: 2009-01-21T05:21:54Z [Term] id: HP:0009555 name: Hypoplasia of the pharynx namespace: medical_genetics def: "Underdevelopment of the pharynx." [HPO:curators] is_a: HP:0000600 ! Abnormality of the pharynx created_by: peter creation_date: 2009-01-21T05:24:16Z [Term] id: HP:0009556 name: Aplasia of the tibia namespace: medical_genetics def: "Absence of the tibia." [HPO:curators] is_a: HP:0005772 ! Aplasia/Hypoplasia of the tibia created_by: peter creation_date: 2009-01-27T06:09:44Z [Term] id: HP:0009557 name: Aplasia/Hypoplasia of the distal phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009558 name: Broad distal phalanx of the 2nd finger namespace: medical_genetics def: "Increased width of the distal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger is_a: HP:0009836 ! Broad distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009559 name: Bullet-shaped distal phalanx of the 2nd finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally . Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 2nd finger is affected." [HPO:curators] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009560 name: Curved distal phalanx of the 2nd finger namespace: medical_genetics def: "Curved appearance of the distal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger is_a: HP:0009838 ! Curved distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009561 name: Osteolytic defects of the distal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004108 alt_id: HP:0004142 def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 2nd finger." [HPO:curators] synonym: "Acro-osteolysis of index finger" EXACT [] synonym: "Acro-osteolysis of terminal index finger phalanx" EXACT [] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009562 name: Patchy sclerosis of the distal phalanx of the 2nd finger namespace: medical_genetics def: "Patchy increase in bone density of the distal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of the phalanges of the 2nd finger is_a: HP:0009840 ! Patchy sclerosis of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009563 name: Symphalangism affecting the distal phalanx of the 2nd finger namespace: medical_genetics def: "Fusion of the distal phalanx of the 2nd finger with another bone." [HPO:curators] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009545 ! Symphalangism of the 2nd finger is_a: HP:0009841 ! Symphalangism affecting the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009564 name: Triangular shaped distal phalanx of the 2nd finger namespace: medical_genetics def: "Triangular shaped distal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009542 ! Abnormality of the distal phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T04:16:02Z [Term] id: HP:0009565 name: Aplasia of the distal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004141 synonym: "Absent terminal index finger phalanx" EXACT [] is_a: HP:0009535 ! Aplasia of the 2nd finger is_a: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T04:20:22Z [Term] id: HP:0009566 name: Hypoplastic/small distal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004145 synonym: "Hypoplastic terminal index finger phalanx" EXACT [] synonym: "Short terminal index finger phalanx" EXACT [] is_a: HP:0009536 ! Hypoplastic/small 2nd finger is_a: HP:0009557 ! Aplasia/Hypoplasia of the distal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T04:20:22Z [Term] id: HP:0009568 name: Aplasia/Hypoplasia of the middle phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0006221 synonym: "Absent/hypoplastic middle phalanx of 2nd finger" EXACT [] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009569 name: Broad middle phalanx of the 2nd finger namespace: medical_genetics def: "Increased width of the middle phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger is_a: HP:0009844 ! Broad middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009570 name: Bullet-shaped middle phalanx of the 2nd finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the middle phalanx of the 2nd finger is affected." [HPO:curators] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger is_a: HP:0009845 ! Bullet-shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009571 name: Curved middle phalanx of the 2nd finger namespace: medical_genetics def: "Curved appearance of the middle phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger is_a: HP:0009846 ! Curved middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009572 name: Osteolytic defects of the middle phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004134 def: "Dissolution or degeneration of bone tissue of the middle phalanx of the 2nd finger." [HPO:curators] synonym: "Lytic defects of middle index finger phalanx" EXACT [] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger is_a: HP:0009847 ! Osteolytic defects of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009573 name: Patchy sclerosis of the middle phalanx of the 2nd finger namespace: medical_genetics def: "Patchy increase in bone density of the middle phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of the phalanges of the 2nd finger is_a: HP:0009848 ! Patchy sclerosis of the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009574 name: Symphalangism affecting the middle phalanx of the 2nd finger namespace: medical_genetics def: "Fusion of the middle phalanx of the 2nd finger with another bone." [HPO:curators] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009545 ! Symphalangism of the 2nd finger is_a: HP:0009849 ! Symphalangism affecting the middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009575 name: Triangular shaped middle phalanx of the 2nd finger namespace: medical_genetics def: "Triangular shaped middle phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009543 ! Abnormality of the middle phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger is_a: HP:0009850 ! Triangular shaped middle phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:10:24Z [Term] id: HP:0009576 name: Aplasia of the middle phalanx of the 2nd finger namespace: medical_genetics def: "Absence of the middle phalanx of the index (2nd) finger." [HPO:curators] is_a: HP:0009535 ! Aplasia of the 2nd finger is_a: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:15:55Z [Term] id: HP:0009577 name: Hypoplastic/small middle phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004133 def: "Hypoplastic/small middle phalanx of the 2nd (index) finger." [HPO:curators] synonym: "Hypoplastic middle index finger phalanx" EXACT [] is_a: HP:0009536 ! Hypoplastic/small 2nd finger is_a: HP:0009568 ! Aplasia/Hypoplasia of the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:15:55Z [Term] id: HP:0009578 name: Symphalangism of the distal and middle phalanges of the 2nd finger namespace: medical_genetics alt_id: HP:0009567 def: "Fusion of the terminal/distal and middle phalanges of the 2nd finger." [HPO:curators] is_a: HP:0009563 ! Symphalangism affecting the distal phalanx of the 2nd finger is_a: HP:0009574 ! Symphalangism affecting the middle phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:23:12Z [Term] id: HP:0009579 name: Symphalangism of the middle and proximal phalanges of the 2nd finger namespace: medical_genetics def: "Fusion of the proximal and middle phalanges of the 2nd finger." [HPO:curators] is_a: HP:0009574 ! Symphalangism affecting the middle phalanx of the 2nd finger is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:23:12Z [Term] id: HP:0009580 name: Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger namespace: medical_genetics is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009552 ! Aplasia/Hypoplasia of the phalanges of the 2nd finger created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009581 name: Broad proximal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004126 def: "Increased width of the proximal phalanx of the 2nd finger." [HPO:curators] synonym: "Wide/broad proximal index finger phalanx" EXACT [] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009547 ! Broad phalanges of the 2nd finger is_a: HP:0009852 ! Broad proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009582 name: Bullet-shaped proximal phalanx of the 2nd finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 2nd finger is affected." [HPO:curators] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009548 ! Bullet-shaped phalanges of the 2nd finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009583 name: Curved proximal phalanx of the 2nd finger namespace: medical_genetics def: "Curved appearance of the proximal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009549 ! Curved phalanges of the 2nd finger is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009584 name: Osteolytic defects of the proximal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004123 def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 2nd finger." [HPO:curators] synonym: "Lytic defects of proximal index finger phalanx" EXACT [] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009550 ! Osteolytic defects of the phalanges of the 2nd finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009585 name: Patchy sclerosis of the proximal phalanx of the 2nd finger namespace: medical_genetics def: "Patchy increase in bone density of the proximal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009551 ! Patchy sclerosis of the phalanges of the 2nd finger is_a: HP:0009856 ! Patchy sclerosis of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009586 name: Symphalangism affecting the proximal phalanx of the 2nd finger namespace: medical_genetics def: "Fusion of the proximal phalanx of the 2nd finger with another bone." [HPO:curators] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009545 ! Symphalangism of the 2nd finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009587 name: Triangular shaped proximal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004125 def: "Triangular shaped proximal phalanx of the 2nd finger." [HPO:curators] synonym: "Triangular proximal index finger phalanx" EXACT [] is_a: HP:0009544 ! Abnormality of the proximal phalanx of the 2nd finger is_a: HP:0009546 ! Triangular shaped phalanges of the 2nd finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-28T05:26:39Z [Term] id: HP:0009588 name: Vestibular Schwannoma namespace: medical_genetics def: "A vestibular Schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear." [HPO:curators] is_a: HP:0004375 ! Tumors of the nervous system is_a: HP:0009591 ! Abnormality of the VIIIth cranial nerve created_by: peter creation_date: 2009-01-28T10:37:32Z [Term] id: HP:0009589 name: Bilateral vestibular Schwannoma namespace: medical_genetics def: "A bilateral vestibular Schwannoma (acoustic neurinoma)." [HPO:curators] is_a: HP:0009588 ! Vestibular Schwannoma created_by: peter creation_date: 2009-01-28T10:39:14Z [Term] id: HP:0009590 name: Unilateral vestibular Schwannoma namespace: medical_genetics def: "A unilateral vestibular Schwannoma (acoustic neurinoma)." [HPO:curators] is_a: HP:0009588 ! Vestibular Schwannoma created_by: peter creation_date: 2009-01-28T10:40:23Z [Term] id: HP:0009591 name: Abnormality of the VIIIth cranial nerve namespace: medical_genetics def: "Abnormality of the vestibulocochlear nerve, the VIIIth cranial nerve, which is involved in transmitting sound and equilibrium information from the inner ear to the brain." [HPO:curators] is_a: HP:0001291 ! Abnormality of the cranial nerves created_by: peter creation_date: 2009-01-28T10:42:57Z [Term] id: HP:0009592 name: Astrocytoma namespace: medical_genetics def: "Astrocytoma is a neoplasm of the central nervous system derived from astrocytes." [HPO:curators] is_a: HP:0009733 ! Glioma created_by: peter creation_date: 2009-01-28T10:51:01Z [Term] id: HP:0009593 name: Peripheral Schwannoma namespace: medical_genetics def: "A Peripheral Schwannoma (also known as neurilemoma) is a benign, usually encapsulated neoplasm derived from Schwann cells." [HPO:curators] is_a: HP:0004375 ! Tumors of the nervous system created_by: peter creation_date: 2009-01-28T10:55:58Z [Term] id: HP:0009594 name: Retinal hamartoma namespace: medical_genetics def: "A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina." [HPO:curators] is_a: HP:0000479 ! Abnormality of the retina created_by: peter creation_date: 2009-01-28T10:58:47Z [Term] id: HP:0009595 name: Occasional neurofibromas namespace: medical_genetics def: "Neurofibromas present in a smaller number than usually seen in neurofibromatosis type 1." [HPO:curators] is_a: HP:0001067 ! Neurofibromas created_by: peter creation_date: 2009-01-28T11:12:19Z [Term] id: HP:0009596 name: Aplasia of the proximal phalanx of the 2nd finger namespace: medical_genetics def: "Absence of the proximal phalanx of the 2nd finger." [HPO:curators] is_a: HP:0009535 ! Aplasia of the 2nd finger is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-29T10:19:36Z [Term] id: HP:0009597 name: Hypoplastic/small proximal phalanx of the 2nd finger namespace: medical_genetics alt_id: HP:0004124 def: "Hypoplastic/small proximal phalanx of the 2nd finger." [HPO:curators] synonym: "Short proximal index finger phalanx" EXACT [] is_a: HP:0009536 ! Hypoplastic/small 2nd finger is_a: HP:0009580 ! Aplasia/Hypoplasia of the proximal phalanx of the 2nd finger created_by: doelkens creation_date: 2009-01-29T10:19:36Z [Term] id: HP:0009598 name: Symphalangism of the proximal phalanx of the 2nd finger with the 2nd metatcarpal namespace: medical_genetics def: "Fusion of the proximal phalanx of the 2nd finger with the 2nd metacarpal." [HPO:curators] is_a: HP:0005880 ! Metacarpophalangeal synostoses is_a: HP:0009586 ! Symphalangism affecting the proximal phalanx of the 2nd finger is_a: HP:0009705 ! Synostosis involving the 2nd metacarpal created_by: doelkens creation_date: 2009-01-29T10:21:45Z [Term] id: HP:0009599 name: Abnormality of the epiphysis of the 1st finger namespace: medical_genetics alt_id: HP:0004074 def: "Abnormality of the epiphysis of the 1st finger (thumb)." [HPO:curators] synonym: "Abnormality of thumb epiphyses" EXACT [] is_a: HP:0001172 ! Abnormality of the 1st finger created_by: doelkens creation_date: 2009-01-29T11:46:15Z [Term] id: HP:0009600 name: Joint contractures of the 1st finger namespace: medical_genetics alt_id: HP:0004061 alt_id: HP:0006043 def: "Chronic loss of joint motion in the 1st finger (thumb) due to structural changes in non-bony tissue. The term camptodactyly is used if the distal and/or proximal interphalangeal joints are affected." [HPO:curators] synonym: "Contracture of thumb" EXACT [] synonym: "Flexion deformities of thumbs" EXACT [] synonym: "Joint contractures of the thumb" EXACT [] is_a: HP:0001172 ! Abnormality of the 1st finger is_a: HP:0009472 ! Joint contractures of the fingers created_by: doelkens creation_date: 2009-01-29T01:06:31Z [Term] id: HP:0009601 name: Aplasia/Hypoplasia of the 1st finger namespace: medical_genetics alt_id: HP:0002950 alt_id: HP:0006225 def: "Hypoplastic/small or absent 1st finger (thumb)." [HPO:curators] synonym: "Absent or hypoplastic thumbs" EXACT [] synonym: "Absent/hypoplastic thumb" EXACT [] synonym: "Absent/hypoplastic thumbs" EXACT [] synonym: "Aplasia/Hypoplasia of the thumb" EXACT [] synonym: "Aplasia/hypoplasia of thumbs" EXACT [] synonym: "Aplastic/hypoplastic thumbs" EXACT [] synonym: "Hypoplastic to aplastic thumbs" EXACT [] synonym: "Hypoplastic/absent thumb" EXACT [] synonym: "Thumb aplasia/hypoplasia" EXACT [] is_a: HP:0001172 ! Abnormality of the 1st finger is_a: HP:0006265 ! Aplasia/Hypoplasia of fingers created_by: doelkens creation_date: 2009-01-29T01:08:24Z [Term] id: HP:0009602 name: Abnormality of the phalanges of the 1st finger namespace: medical_genetics alt_id: HP:0004064 def: "Abnormality of the phalanges of the 1st finger (thumb)." [HPO:curators] synonym: "Abnormality of the phalanges of the thumb" EXACT [] synonym: "Abnormality of thumb phalanges" EXACT [] is_a: HP:0001172 ! Abnormality of the 1st finger created_by: doelkens creation_date: 2009-01-29T01:10:39Z [Term] id: HP:0009603 name: Deviation/Displacement of the 1st finger namespace: medical_genetics alt_id: HP:0004062 def: "Displacement of the 1st finger from its normal position." [HPO:curators] synonym: "Deviated thumb" EXACT [] is_a: HP:0001172 ! Abnormality of the 1st finger is_a: HP:0004097 ! Deviated fingers created_by: doelkens creation_date: 2009-01-29T01:49:57Z [Term] id: HP:0009604 name: Polydactyly affecting the 1st finger namespace: medical_genetics alt_id: HP:0005634 def: "Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins on the radial side of the hand 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: "thumb polydactyly" EXACT [] is_a: HP:0001172 ! Abnormality of the 1st finger is_a: HP:0001177 ! Preaxial polydactyly created_by: doelkens creation_date: 2009-01-29T02:03:20Z [Term] id: HP:0009605 name: Pre- and postaxial polydactyly namespace: medical_genetics is_a: HP:0006034 ! Preaxial and/or postaxial polydactyly created_by: doelkens creation_date: 2009-01-29T02:18:19Z [Term] id: HP:0009606 name: duplicated distal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004084 alt_id: HP:0005784 def: "Complete duplication of the distal phalanx of the 1st finger (thumb). On x-ray two separate bones appear side to side." [HPO:curators] synonym: "Double thumb distal phalanges" EXACT [] synonym: "duplicated distal phalanx of the thumb" EXACT [] synonym: "Duplicated terminal phalanx of thumb" EXACT [] synonym: "Duplication of distal thumb phalanx" EXACT [] synonym: "Duplication of terminal thumb phalanx" EXACT [] is_a: HP:0002801 ! Duplicated thumb is_a: HP:0009612 ! Complete/partial duplication of the distal phalanx of the 1st finger created_by: doelkens creation_date: 2009-01-29T03:28:16Z [Term] id: HP:0009607 name: Preaxial hallucal polydactyly namespace: medical_genetics is_a: HP:0001841 ! Preaxial polydactyly (feet) created_by: doelkens creation_date: 2009-01-29T03:31:49Z [Term] id: HP:0009608 name: duplicated proximal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004078 def: "Complete duplication of the proximal phalanx of the 1st finger (thumb). On x-ray two separate bones appear side to side." [HPO:curators] synonym: "Duplication of proximal thumb phalanx" EXACT [] is_a: HP:0002801 ! Duplicated thumb is_a: HP:0009613 ! Complete/partial duplication of the proximal phalanx of the 1st finger created_by: doelkens creation_date: 2009-01-29T03:32:28Z [Term] id: HP:0009609 name: Complete/partial duplication of the first metacarpal namespace: medical_genetics def: "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely or partially duplicated. Depending on the severity, the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal), a partially fused appearance of the two bones (in most cases the fused bone resembles a Y-shape), or two separate metacarpal bones appearing side to side." [HPO:curators] is_a: HP:0009604 ! Polydactyly affecting the 1st finger created_by: doelkens creation_date: 2009-01-29T03:33:31Z [Term] id: HP:0009611 name: bifid distal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004086 alt_id: HP:0005703 def: "Partial duplication of the distal phalanx of the 1st finger (thumb). Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones." [HPO:curators] synonym: "Bifid distal phalanx of thumb" EXACT [] synonym: "Notched terminal thumb phalanx" EXACT [] is_a: HP:0001244 ! Bifid thumb is_a: HP:0009612 ! Complete/partial duplication of the distal phalanx of the 1st finger created_by: doelkens creation_date: 2009-01-29T03:48:49Z [Term] id: HP:0009612 name: Complete/partial duplication of the distal phalanx of the 1st finger namespace: medical_genetics def: "Complete or partial duplication of the distal phalanx of the 1st finger (thumb). Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side." [HPO:curators] is_a: HP:0009604 ! Polydactyly affecting the 1st finger is_a: HP:0009617 ! Abnormality of the distal phalanx of the 1st finger is_a: HP:0009661 ! Complete/partial duplication of phalanges of the 1st finger created_by: doelkens creation_date: 2009-01-29T03:51:43Z [Term] id: HP:0009613 name: Complete/partial duplication of the proximal phalanx of the 1st finger namespace: medical_genetics def: "Complete or partial duplication of the proximal phalanx of the 1st finger (thumb). Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side." [HPO:curators] is_a: HP:0009604 ! Polydactyly affecting the 1st finger is_a: HP:0009618 ! Abnormality of the proximal phalanx of the 1st finger is_a: HP:0009661 ! Complete/partial duplication of phalanges of the 1st finger created_by: doelkens creation_date: 2009-01-29T03:59:56Z [Term] id: HP:0009614 name: bifid proximal phalanx of the 1st finger namespace: medical_genetics def: "Partial duplication of the proximal phalanx of the 1st finger (thumb). Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx) to a partially fused appearance of the two bones." [HPO:curators] is_a: HP:0001244 ! Bifid thumb is_a: HP:0009613 ! Complete/partial duplication of the proximal phalanx of the 1st finger created_by: doelkens creation_date: 2009-01-29T04:01:27Z [Term] id: HP:0009615 name: duplicated first metacarpal namespace: medical_genetics def: "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is completely duplicated. On x-ray two separate metacarpal bones appear side to side." [HPO:curators] synonym: "complete duplication of the first metacarpal" EXACT [] is_a: HP:0002801 ! Duplicated thumb is_a: HP:0009609 ! Complete/partial duplication of the first metacarpal created_by: doelkens creation_date: 2009-01-29T04:06:17Z [Term] id: HP:0009616 name: bifid first metacarpal namespace: medical_genetics def: "In contrast to the metacarpals 2-5, the first metacarpal is embryologically of phalangeal origin. This term applies if the first metacarpal is partially duplicated. Depending on the severity the appearance on x-ray can vary from a notched metacarpal (the duplicated bone is almost completely fused with the metacarpal)to a partially fused appearance of the two bones. In most cases the fused bone resembles a Y-shape." [HPO:curators] synonym: "partial duplication of the first metacarpal" EXACT [] is_a: HP:0001244 ! Bifid thumb is_a: HP:0009609 ! Complete/partial duplication of the first metacarpal created_by: doelkens creation_date: 2009-01-29T04:06:17Z [Term] id: HP:0009617 name: Abnormality of the distal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004081 synonym: "Abnormality of terminal thumb phalanx" EXACT [] is_a: HP:0009602 ! Abnormality of the phalanges of the 1st finger created_by: doelkens creation_date: 2009-01-29T04:13:47Z [Term] id: HP:0009618 name: Abnormality of the proximal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004076 synonym: "Abnormality of proximal thumb phalanx" EXACT [] is_a: HP:0009602 ! Abnormality of the phalanges of the 1st finger created_by: doelkens creation_date: 2009-01-29T04:13:47Z [Term] id: HP:0009619 name: Accessory phalanx of the 1st finger namespace: medical_genetics def: "An accessory phalanx of the thumb." [HPO:curators] is_a: HP:0009602 ! Abnormality of the phalanges of the 1st finger created_by: doelkens creation_date: 2009-01-29T04:22:20Z [Term] id: HP:0009620 name: Radial deviation of the 1st finger namespace: medical_genetics alt_id: HP:0004063 synonym: "Radially deviated thumb" EXACT [] is_obsolete: true created_by: doelkens creation_date: 2009-01-29T04:35:09Z [Term] id: HP:0009621 name: Ulnar deviation of the 1st finger namespace: medical_genetics is_obsolete: true created_by: doelkens creation_date: 2009-01-29T04:35:51Z [Term] id: HP:0009622 name: Distally placed 1st finger namespace: medical_genetics alt_id: HP:0005755 def: "Distally displaced 1st finger (thumb)." [HPO:curators] synonym: "Distally placed thumb" EXACT [] is_a: HP:0009603 ! Deviation/Displacement of the 1st finger created_by: doelkens creation_date: 2009-01-29T04:40:23Z [Term] id: HP:0009623 name: Proximally placed 1st finger namespace: medical_genetics alt_id: HP:0001170 def: "Proximally displaced 1st finger (thumb)." [HPO:curators] synonym: "Proximally placed halluces" EXACT [] synonym: "Proximally placed thumb" EXACT [] synonym: "Proximally placed thumbs" EXACT [] is_a: HP:0009603 ! Deviation/Displacement of the 1st finger created_by: doelkens creation_date: 2009-01-29T04:40:23Z [Term] id: HP:0009624 name: Contractures of the carpometacarpal joint of the 1st finger namespace: medical_genetics def: "Chronic loss of joint motion of the carpometacarpal joint of the thumb (1st finger) due to structural changes in non-bony tissue. This joint is formed by the first metacarpal and the trapezial bone and is also called Articulatio carpometacarpalis pollicis, carpometacarpal articulation of thumb, carpometacarpal joint of thumb or first carpometacarpal articulation. Seldom referred to as thumb saddle joint." [HPO:curators] is_a: HP:0009600 ! Joint contractures of the 1st finger created_by: doelkens creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009625 name: Contractures of the metacarpophalangeal joint of the 1st finger namespace: medical_genetics def: "Chronic loss of joint motion of the metacarpophalangeal joint of the 1st finger (thumb) due to structural changes in non-bony tissue. This joint is also called Articulatio metacarpophalangealis pollicis." [HPO:curators] is_a: HP:0009600 ! Joint contractures of the 1st finger created_by: doelkens creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009626 name: Contractures of the interphalangeal joint of the 1st finger namespace: medical_genetics alt_id: HP:0005697 def: "Chronic loss of joint motion of the interphalangeal joint of the 1st finger due to structural changes in non-bony tissue. This joint is also called Articulatio interphalangealis pollicis." [HPO:curators] synonym: "Interphalangeal extension contractures of thumbs" EXACT [] is_a: HP:0001220 ! Interphalangeal joint contractures is_a: HP:0009600 ! Joint contractures of the 1st finger created_by: doelkens creation_date: 2009-01-29T04:52:18Z [Term] id: HP:0009629 name: Aplasia/Hypoplasia of the proximal phalanx of the 1st finger namespace: medical_genetics is_a: HP:0009618 ! Abnormality of the proximal phalanx of the 1st finger is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the 1st finger created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009630 name: Broad proximal phalanx of the 1st finger namespace: medical_genetics def: "Increased width of the proximal phalanx of the 1st finger." [HPO:curators] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the 1st finger is_a: HP:0009651 ! Broad phalanges of the 1st finger is_a: HP:0009852 ! Broad proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009631 name: Bullet-shaped proximal phalanx of the 1st finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the proximal phalanx of the 1st finger is affected." [HPO:curators] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the 1st finger is_a: HP:0009652 ! Bullet-shaped phalanges of the 1st finger is_a: HP:0009853 ! Bullet-shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009632 name: Curved proximal phalanx of the 1st finger namespace: medical_genetics def: "Curved appearance of the proximal phalanx of the 1st finger." [HPO:curators] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the 1st finger is_a: HP:0009653 ! Curved phalanges of the 1st finger is_a: HP:0009854 ! Curved proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009633 name: Osteolytic defects of the proximal phalanx of the 1st finger namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the proximal phalanx of the 1st finger." [HPO:curators] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the 1st finger is_a: HP:0009654 ! Osteolytic defects of the phalanges of the 1st finger is_a: HP:0009855 ! Osteolytic defects of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009634 name: Patchy sclerosis of the proximal phalanx of the 1st finger namespace: medical_genetics def: "Patchy increase in bone density of the proximal phalanx of the 1st finger." [HPO:curators] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the 1st finger is_a: HP:0009655 ! Patchy sclerosis of the phalanges of the 1st finger is_a: HP:0009856 ! Patchy sclerosis of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009635 name: Symphalangism affecting the proximal phalanx of the 1st finger namespace: medical_genetics def: "Fusion of the proximal phalanx of the 1st finger with another bone." [HPO:curators] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the 1st finger is_a: HP:0009656 ! Symphalangism of the 1st finger is_a: HP:0009857 ! Symphalangism affecting the proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009636 name: Triangular shaped proximal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004080 def: "Triangular shaped proximal phalanx of the 1st finger (thumb)." [HPO:curators] synonym: "Triangular proximal thumb phalanx" EXACT [] is_a: HP:0009618 ! Abnormality of the proximal phalanx of the 1st finger is_a: HP:0009657 ! Triangular shaped phalanges of the 1st finger is_a: HP:0009858 ! Triangular shaped proximal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:09:41Z [Term] id: HP:0009637 name: Aplasia of the proximal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004077 def: "Absence of the proximal phalanx of the 1st finger." [HPO:curators] synonym: "Absent ossification/absent proximal thumb phalanx" EXACT [] is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the 1st finger is_a: HP:0009659 ! Aplasia of the phalanges of the 1st finger created_by: doelkens creation_date: 2009-01-29T05:11:02Z [Term] id: HP:0009638 name: Hypoplastic/small proximal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004079 def: "Hypoplastic/small proximal phalanx of the 1st finger (thumb)." [HPO:curators] synonym: "Short proximal phalanges of thumb" EXACT [] synonym: "Short proximal thumb phalanx" EXACT [] is_a: HP:0009629 ! Aplasia/Hypoplasia of the proximal phalanx of the 1st finger is_a: HP:0009660 ! Hypoplastic/small phalanges of the 1st finger created_by: doelkens creation_date: 2009-01-29T05:11:02Z [Term] id: HP:0009639 name: Symphalangism of the distal and proximal phalanges of the 1st finger namespace: medical_genetics def: "Fusion of the proximal and distal phalanges of the 1st finger (thumb)." [HPO:curators] is_a: HP:0009635 ! Symphalangism affecting the proximal phalanx of the 1st finger is_a: HP:0009647 ! Symphalangism affecting the distal phalanx of the 1st finger created_by: doelkens creation_date: 2009-01-29T05:17:08Z [Term] id: HP:0009640 name: Symphalangism of the proximal phalanx of the 1st finger with the 1st metatcarpal namespace: medical_genetics def: "Fusion of the proximal phalanx of the 1st finger (thumb) with the 1st metacarpal." [HPO:curators] is_a: HP:0005880 ! Metacarpophalangeal synostoses is_a: HP:0009635 ! Symphalangism affecting the proximal phalanx of the 1st finger is_a: HP:0009703 ! Synostosis involving the 1st metacarpal created_by: doelkens creation_date: 2009-01-29T05:17:08Z [Term] id: HP:0009641 name: Aplasia/Hypoplasia of the distal phalanx of the 1st finger namespace: medical_genetics is_a: HP:0009617 ! Abnormality of the distal phalanx of the 1st finger created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009642 name: Broad distal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004088 alt_id: HP:0006198 def: "Increased width of the distal phalanx of the 1st finger." [HPO:curators] synonym: "Broad terminal thumb phalanx" EXACT [] synonym: "Wide distal phalanx of thumb" EXACT [] is_a: HP:0009617 ! Abnormality of the distal phalanx of the 1st finger is_a: HP:0009651 ! Broad phalanges of the 1st finger is_a: HP:0009836 ! Broad distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009643 name: Bullet-shaped distal phalanx of the 1st finger namespace: medical_genetics def: "Bullet-shaped phalanx refers to a short and wide phalanx that tapers distally. Bullet-shaped phalanges lack the normal diaphyseal constriction. This term is used if the distal phalanx of the 1st finger is affected." [HPO:curators] is_a: HP:0009617 ! Abnormality of the distal phalanx of the 1st finger is_a: HP:0009652 ! Bullet-shaped phalanges of the 1st finger is_a: HP:0009837 ! Bullet-shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009644 name: Curved distal phalanx of the 1st finger namespace: medical_genetics def: "Curved appearance of the distal phalanx of the 1st finger." [HPO:curators] is_a: HP:0009617 ! Abnormality of the distal phalanx of the 1st finger is_a: HP:0009653 ! Curved phalanges of the 1st finger is_a: HP:0009838 ! Curved distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009645 name: Osteolytic defects of the distal phalanx of the 1st finger namespace: medical_genetics def: "Dissolution or degeneration of bone tissue of the distal phalanx of the 1st finger." [HPO:curators] is_a: HP:0009617 ! Abnormality of the distal phalanx of the 1st finger is_a: HP:0009654 ! Osteolytic defects of the phalanges of the 1st finger is_a: HP:0009839 ! Osteolytic defects of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009646 name: Patchy sclerosis of the distal phalanx of the 1st finger namespace: medical_genetics def: "Patchy increase in bone density of the distal phalanx of the 1st finger." [HPO:curators] is_a: HP:0009617 ! Abnormality of the distal phalanx of the 1st finger is_a: HP:0009655 ! Patchy sclerosis of the phalanges of the 1st finger is_a: HP:0009840 ! Patchy sclerosis of the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009647 name: Symphalangism affecting the distal phalanx of the 1st finger namespace: medical_genetics def: "Fusion of the distal phalanx of the 1st finger with another bone." [HPO:curators] is_a: HP:0009617 ! Abnormality of the distal phalanx of the 1st finger is_a: HP:0009656 ! Symphalangism of the 1st finger is_a: HP:0009841 ! Symphalangism affecting the distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009648 name: Triangular shaped distal phalanx of the 1st finger namespace: medical_genetics def: "Triangular shaped distal phalanx of the 1st finger (thumb)." [HPO:curators] is_a: HP:0009617 ! Abnormality of the distal phalanx of the 1st finger is_a: HP:0009657 ! Triangular shaped phalanges of the 1st finger is_a: HP:0009875 ! Triangular shaped distal phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:19:33Z [Term] id: HP:0009649 name: Aplasia of the distal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004082 def: "Absence of the distal/terminal phalanx of the 1st finger (thumb)." [HPO:curators] synonym: "Absent ossification/absent terminal thumb phalanx" EXACT [] is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the 1st finger is_a: HP:0009659 ! Aplasia of the phalanges of the 1st finger created_by: doelkens creation_date: 2009-01-29T05:22:06Z [Term] id: HP:0009650 name: Hypoplastic/small distal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004085 alt_id: HP:0004087 def: "Hypoplastic/small distal/terminal phalanx of the 1st finger (thumb)." [HPO:curators] synonym: "Hypoplastic terminal thumb phalanx" EXACT [] synonym: "Short terminal thumb phalanx" EXACT [] synonym: "Short thumb terminal phalanx" EXACT [] synonym: "Small terminal thumb phalanx" EXACT [] is_a: HP:0009641 ! Aplasia/Hypoplasia of the distal phalanx of the 1st finger is_a: HP:0009660 ! Hypoplastic/small phalanges of the 1st finger created_by: doelkens creation_date: 2009-01-29T05:22:06Z [Term] id: HP:0009651 name: Broad phalanges of the 1st finger namespace: medical_genetics alt_id: HP:0001173 alt_id: HP:0004073 synonym: "Broad thumb" EXACT [] synonym: "Broad thumbs" EXACT [] synonym: "Wide/broad thumb" EXACT [] synonym: "Wide/broad thumb phalanges" EXACT [] is_a: HP:0009602 ! Abnormality of the phalanges of the 1st finger is_a: HP:0009768 ! Broad phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009652 name: Bullet-shaped phalanges of the 1st finger namespace: medical_genetics is_a: HP:0009602 ! Abnormality of the phalanges of the 1st finger is_a: HP:0009769 ! Bullet-shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009653 name: Curved phalanges of the 1st finger namespace: medical_genetics is_a: HP:0004095 ! Curved fingers is_a: HP:0009602 ! Abnormality of the phalanges of the 1st finger is_a: HP:0009770 ! Curved phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009654 name: Osteolytic defects of the phalanges of the 1st finger namespace: medical_genetics is_a: HP:0009602 ! Abnormality of the phalanges of the 1st finger is_a: HP:0009699 ! Osteolytic defects of the hand bones is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009655 name: Patchy sclerosis of the phalanges of the 1st finger namespace: medical_genetics is_a: HP:0009602 ! Abnormality of the phalanges of the 1st finger is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009656 name: Symphalangism of the 1st finger namespace: medical_genetics alt_id: HP:0004068 synonym: "Fused thumb phalanges" EXACT [] is_a: HP:0009602 ! Abnormality of the phalanges of the 1st finger is_a: HP:0009700 ! Synostosis involving bones of the fingers is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009657 name: Triangular shaped phalanges of the 1st finger namespace: medical_genetics alt_id: HP:0004072 synonym: "Triangular thumb phalanges" EXACT [] is_a: HP:0009602 ! Abnormality of the phalanges of the 1st finger is_a: HP:0009774 ! Triangular shaped phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009658 name: Aplasia/Hypoplasia of the phalanges of the 1st finger namespace: medical_genetics is_a: HP:0009602 ! Abnormality of the phalanges of the 1st finger is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:29:26Z [Term] id: HP:0009659 name: Aplasia of the phalanges of the 1st finger namespace: medical_genetics alt_id: HP:0004065 synonym: "Absent ossification of thumb phalanges" EXACT [] is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the 1st finger is_a: HP:0009777 ! Aplasia of the 1st finger is_a: HP:0009802 ! Aplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:35:50Z [Term] id: HP:0009660 name: Hypoplastic/small phalanges of the 1st finger namespace: medical_genetics alt_id: HP:0004069 alt_id: HP:0004071 synonym: "Hypoplastic thumb phalanges" EXACT [] synonym: "Short thumb phalanges" EXACT [] is_a: HP:0009658 ! Aplasia/Hypoplasia of the phalanges of the 1st finger is_a: HP:0009778 ! Hypoplastic/small 1st finger is_a: HP:0009803 ! Hypoplastic/small phalanges of the hand created_by: doelkens creation_date: 2009-01-29T05:35:50Z [Term] id: HP:0009661 name: Complete/partial duplication of phalanges of the 1st finger namespace: medical_genetics def: "Complete or partial duplication of the phalanges of the 1st finger (thumb). Depending on the severity, the appearance on x-ray can vary from a notched phalanx (the duplicated bone is almost completely fused with the phalanx), a partially fused appearance of the two bones, or two separate bones appearing side to side." [HPO:curators] is_a: HP:0009602 ! Abnormality of the phalanges of the 1st finger created_by: doelkens creation_date: 2009-01-29T05:44:30Z [Term] id: HP:0009662 name: Abnormality of the epiphysis of the distal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004089 synonym: "Abnormality of terminal thumb epiphysis" EXACT [] is_a: HP:0009599 ! Abnormality of the epiphysis of the 1st finger is_a: HP:0009617 ! Abnormality of the distal phalanx of the 1st finger created_by: doelkens creation_date: 2009-01-29T05:49:31Z [Term] id: HP:0009663 name: Abnormality of the epiphysis of the proximal phalanx of the 1st finger namespace: medical_genetics is_a: HP:0009599 ! Abnormality of the epiphysis of the 1st finger is_a: HP:0009618 ! Abnormality of the proximal phalanx of the 1st finger created_by: doelkens creation_date: 2009-01-29T05:49:31Z [Term] id: HP:0009664 name: Absent epiphysis of the proximal phalanx of the 1st finger namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the middle phalanx of the 1st finger." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the 1st finger is_a: HP:0009686 ! Absent epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009665 name: Bracket epiphysis of the proximal phalanx of the 1st finger namespace: medical_genetics def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the 1st finger is_a: HP:0009687 ! Bracket epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009666 name: Cone-shaped epiphysis of the proximal phalanx of the 1st finger namespace: medical_genetics def: "A cone-shaped appearance of the epiphysis of the middle phalanx of the 1st finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the 1st finger is_a: HP:0009688 ! Cone-shaped epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009667 name: Enlarged epiphysis of the proximal phalanx of the 1st finger namespace: medical_genetics def: "Abnormally large size of the epiphysis located at the proximal end of the middle phalanx of the 1st finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the 1st finger is_a: HP:0009689 ! Enlarged epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009668 name: Fragmentation of the epiphysis of the proximal phalanx of the 1st finger namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the middle phalanx of the 1st finger." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the 1st finger is_a: HP:0009690 ! Fragmentation of the epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009669 name: Irregular epiphysis of the proximal phalanx of the 1st finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the middle phalanx of the 1st finger." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the 1st finger is_a: HP:0009691 ! Irregular epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009670 name: Ivory epiphysis of the proximal phalanx of the 1st finger namespace: medical_genetics def: "Sclerosis of the epiphysis of the middle phalanx of the 1st finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the 1st finger is_a: HP:0009692 ! Ivory epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009671 name: Pseudoepiphysis of the proximal phalanx of the 1st finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the 1st finger is_a: HP:0009693 ! Pseudoepiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009672 name: Small epiphysis of the proximal phalanx of the 1st finger namespace: medical_genetics def: "Abnormally small size of the epiphysis located at the proximal end of the middle phalanx of the 1st finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the 1st finger is_a: HP:0009694 ! Small epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009673 name: Stippling of the epiphysis of the proximal phalanx of the 1st finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the middle phalanx of the 1st finger." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the 1st finger is_a: HP:0009695 ! Stippling of the epiphyses of 1st finger created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009674 name: Triangular epiphysis of the proximal phalanx of the 1st finger namespace: medical_genetics def: "A triangular appearance of the epiphysis of the middle phalanx of the 1st finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] is_a: HP:0009663 ! Abnormality of the epiphysis of the proximal phalanx of the 1st finger is_a: HP:0009696 ! Triangular epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:17:13Z [Term] id: HP:0009675 name: Absent epiphysis of the distal phalanx of the 1st finger namespace: medical_genetics def: "Absence of the epiphysis located at the proximal end of the distal phalanx of the 1st finger." [HPO:curators] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the 1st finger is_a: HP:0009686 ! Absent epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009676 name: Bracket epiphysis of the distal phalanx of the 1st finger namespace: medical_genetics def: "The epiphysis is normally located on the proximal surface of the phalanges. Bracket epiphysis refers to an abnormality in which the epiphysis surrounds the phalanx, having a bracket-like form and reaching from the proximal side of the phalanx to the distal side." [HPO:curators] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the 1st finger is_a: HP:0009687 ! Bracket epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009677 name: Cone-shaped epiphysis of the distal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004091 def: "A cone-shaped appearance of the epiphysis of the distal phalanx of the 1st finger of the hand, producing a 'ball-in-a-socket' appearance. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat. The related entity 'angel-shaped' epiphysis refers to a pronounced cone-shaped epiphysis in combination with a pseudoepiphysis at the distal end of the phalanx." [HPO:curators] synonym: "Cone-shaped terminal thumb phalanx epiphysis" EXACT [] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the 1st finger is_a: HP:0009688 ! Cone-shaped epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009678 name: Enlarged epiphysis of the distal phalanx of the 1st finger namespace: medical_genetics alt_id: HP:0004092 def: "Abnormally large size of the epiphysis located at the proximal end of the distal phalanx of the 1st finger with respect to age-dependent norms." [HPO:curators] synonym: "Large terminal thumb phalanx epiphysis" EXACT [] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the 1st finger is_a: HP:0009689 ! Enlarged epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009679 name: Fragmentation of the epiphysis of the distal phalanx of the 1st finger namespace: medical_genetics def: "Fragmented appearance of the epiphysis of the distal phalanx of the 1st finger." [HPO:curators] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the 1st finger is_a: HP:0009690 ! Fragmentation of the epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009680 name: Irregular epiphysis of the distal phalanx of the 1st finger namespace: medical_genetics def: "Irregular radiographic opacity of the epiphysis of the distal phalanx of the 1st finger." [HPO:curators] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the 1st finger is_a: HP:0009691 ! Irregular epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009681 name: Ivory epiphysis of the distal phalanx of the 1st finger namespace: medical_genetics def: "Sclerosis of the epiphysis of the distal phalanx of the 1st finger, leading to an increased degree of radiopacity (white or ivory appearance) in X-rays." [HPO:curators] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the 1st finger is_a: HP:0009692 ! Ivory epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009682 name: Pseudoepiphysis of the distal phalanx of the 1st finger namespace: medical_genetics def: "A pseudoepiphysis is a secondary ossification center distinct from the normal epiphysis." [HPO:curators] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the 1st finger is_a: HP:0009693 ! Pseudoepiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009683 name: Small epiphysis of the distal phalanx of the 1st finger namespace: medical_genetics def: "Abnormally small size of the epiphysis located at the proximal end of the distal phalanx of the 1st finger with respect to age-dependent norms." [HPO:curators] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the 1st finger is_a: HP:0009694 ! Small epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009684 name: Stippling of the epiphysis of the distal phalanx of the 1st finger namespace: medical_genetics def: "The presence of abnormal punctate (speckled, dot-like) calcifications in the epiphysis of the distal phalanx of the 1st finger." [HPO:curators] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the 1st finger is_a: HP:0009695 ! Stippling of the epiphyses of 1st finger created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009685 name: Triangular epiphysis of the distal phalanx of the 1st finger namespace: medical_genetics def: "A triangular appearance of the epiphysis of the distal phalanx of the 1st finger of the hand. This epiphysis is located at the proximal end of the phalanx and is normally nearly flat." [HPO:curators] is_a: HP:0009662 ! Abnormality of the epiphysis of the distal phalanx of the 1st finger is_a: HP:0009696 ! Triangular epiphyses of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:18:09Z [Term] id: HP:0009686 name: Absent epiphyses of the 1st finger namespace: medical_genetics is_a: HP:0009599 ! Abnormality of the epiphysis of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009687 name: Bracket epiphyses of the 1st finger namespace: medical_genetics is_a: HP:0009599 ! Abnormality of the epiphysis of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009688 name: Cone-shaped epiphyses of the 1st finger namespace: medical_genetics alt_id: HP:0004075 synonym: "Cone-shaped thumb epiphyses" EXACT [] is_a: HP:0009599 ! Abnormality of the epiphysis of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009689 name: Enlarged epiphyses of the 1st finger namespace: medical_genetics is_a: HP:0009599 ! Abnormality of the epiphysis of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009690 name: Fragmentation of the epiphyses of the 1st finger namespace: medical_genetics is_a: HP:0009599 ! Abnormality of the epiphysis of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009691 name: Irregular epiphyses of the 1st finger namespace: medical_genetics is_a: HP:0009599 ! Abnormality of the epiphysis of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009692 name: Ivory epiphyses of the 1st finger namespace: medical_genetics is_a: HP:0009599 ! Abnormality of the epiphysis of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009693 name: Pseudoepiphyses of the 1st finger namespace: medical_genetics is_a: HP:0009599 ! Abnormality of the epiphysis of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009694 name: Small epiphyses of the 1st finger namespace: medical_genetics is_a: HP:0009599 ! Abnormality of the epiphysis of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009695 name: Stippling of the epiphyses of 1st finger namespace: medical_genetics is_a: HP:0009599 ! Abnormality of the epiphysis of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009696 name: Triangular epiphyses of the 1st finger namespace: medical_genetics is_a: HP:0009599 ! Abnormality of the epiphysis of the 1st finger created_by: doelkens creation_date: 2009-01-30T09:20:16Z [Term] id: HP:0009697 name: Contractures of the distal interphalangeal joints of the fingers namespace: medical_genetics def: "Contractures of one or more distal interphalangeal joints of the fingers." [HPO:curators] is_a: HP:0001220 ! Interphalangeal joint contractures created_by: doelkens creation_date: 2009-01-30T04:01:28Z [Term] id: HP:0009698 name: Contractures of the proximal interphalangeal joints of the fingers namespace: medical_genetics alt_id: HP:0005713 alt_id: HP:0005801 alt_id: HP:0006240 def: "Contractures of one or more proximal interphalangeal joints of the fingers." [HPO:curators] synonym: "Camptodactyly of proximal interphalangeal joint" EXACT [] synonym: "Flexion contractures of proximal interphalangeal joints" EXACT [] synonym: "Proximal interphalangeal finger joint contractures" EXACT [] is_a: HP:0001220 ! Interphalangeal joint contractures created_by: doelkens creation_date: 2009-01-30T04:02:13Z [Term] id: HP:0009699 name: Osteolytic defects of the hand bones namespace: medical_genetics alt_id: HP:0004282 synonym: "Lytic defects of hand bones" EXACT [] is_a: HP:0001155 ! Abnormality of the hand created_by: doelkens creation_date: 2009-01-30T04:08:52Z [Term] id: HP:0009700 name: Synostosis involving bones of the fingers namespace: medical_genetics is_a: HP:0004278 ! Synostosis involving bones of the hand created_by: doelkens creation_date: 2009-01-30T04:12:24Z [Term] id: HP:0009701 name: Synostosis involving the metacarpal bones namespace: medical_genetics alt_id: HP:0005915 alt_id: HP:0006041 def: "Fusion involving two or more metacarpal bones (A synostosis of the first metacarpal and the proximal phalanx of the thumb can also be observed, note that the first metacarpal bone corresponds to a proximal phalanx)." [HPO:curators] synonym: "Metacarpal synostosis" EXACT [] synonym: "Synostosis involving metacarpal bones" EXACT [] is_a: HP:0001163 ! Abnormality of the metacarpal bones is_a: HP:0004278 ! Synostosis involving bones of the hand created_by: doelkens creation_date: 2009-01-30T04:13:07Z [Term] id: HP:0009702 name: Synostosis involving the carpal bones namespace: medical_genetics alt_id: HP:0001192 alt_id: HP:0005799 synonym: "Carpal bone fusion" EXACT [] synonym: "Carpal fusion" EXACT [] synonym: "Carpal synostosis" EXACT [] synonym: "Fused carpal bones" EXACT [] is_a: HP:0001191 ! Abnormality of the carpal bones is_a: HP:0004278 ! Synostosis involving bones of the hand created_by: doelkens creation_date: 2009-01-30T04:25:10Z [Term] id: HP:0009703 name: Synostosis involving the 1st metacarpal namespace: medical_genetics alt_id: HP:0005614 synonym: "First metacarpophalangeal joint synostosis" EXACT [] is_a: HP:0009701 ! Synostosis involving the metacarpal bones created_by: doelkens creation_date: 2009-01-30T04:26:41Z [Term] id: HP:0009704 name: Chronic CSF lymphocytosis namespace: medical_genetics def: "Chronic cerebrospinal fluid (CSF) lymphocytosis is defined as the finding, in at least two serial CSF examinations, of more than 5 cells per cubic millimeter." [HPO:curators] is_a: HP:0002921 ! Abnormal CSF findings created_by: peter creation_date: 2009-01-30T06:24:59Z [Term] id: HP:0009705 name: Synostosis involving the 2nd metacarpal namespace: medical_genetics is_a: HP:0009701 ! Synostosis involving the metacarpal bones created_by: doelkens creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009706 name: Synostosis involving the 3rd metacarpal namespace: medical_genetics is_a: HP:0009701 ! Synostosis involving the metacarpal bones created_by: doelkens creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009707 name: Synostosis involving the 4th metacarpal namespace: medical_genetics is_a: HP:0009701 ! Synostosis involving the metacarpal bones is_a: HP:0009708 ! Synostosis involving the 5th metacarpal created_by: doelkens creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009708 name: Synostosis involving the 5th metacarpal namespace: medical_genetics is_a: HP:0009701 ! Synostosis involving the metacarpal bones created_by: doelkens creation_date: 2009-01-30T04:32:03Z [Term] id: HP:0009709 name: Increased CSF interferon alpha namespace: medical_genetics def: "Increased concentration of interferon alpha in the cerebrospinal fluid (CSF)." [HPO:curators] is_a: HP:0002921 ! Abnormal CSF findings created_by: peter creation_date: 2009-01-30T06:27:06Z [Term] id: HP:0009710 name: Chilblain lesions namespace: medical_genetics def: "Chilblains are acral ulcers." [HPO:curators] is_a: HP:0001167 ! Abnormality of the fingers created_by: peter creation_date: 2009-01-30T07:26:24Z [Term] id: HP:0009711 name: Retinal hemangioblastoma namespace: medical_genetics def: "Retinal hemangioblastoma is a benign vascular tumor of the retina without any neoplastic characteristics. They have been called \"retinal angiomas\" and \"retinal hemangiomas\" but hemangioblastoma is the preferred term since they are histologically identical to lesions found in the CNS." [HPO:curators] is_a: HP:0000479 ! Abnormality of the retina created_by: peter creation_date: 2009-01-30T11:08:05Z [Term] id: HP:0009712 name: Tumor of the spinal cord namespace: medical_genetics def: "One or multiple tumors affecting the spinal cord." [HPO:curators] is_a: HP:0004375 ! Tumors of the nervous system created_by: peter creation_date: 2009-01-30T11:23:51Z [Term] id: HP:0009713 name: Spinal hemangioblastoma namespace: medical_genetics def: "Presence of a hemangioblastoma, a benign vascular tumor, in the spinal cord." [HPO:curators] is_a: HP:0009712 ! Tumor of the spinal cord created_by: peter creation_date: 2009-01-30T11:24:31Z [Term] id: HP:0009714 name: Abnormality of the epididymis namespace: medical_genetics def: "Lesion of the epididymis (the structure that connects efferent ductules to vas deferens)." [HPO:curators] is_a: HP:0000022 ! Abnormality of male internal genitalia created_by: peter creation_date: 2009-01-30T11:44:43Z [Term] id: HP:0009715 name: Papillary cystadenoma of the epididymis namespace: medical_genetics def: "Papillary cystadenomas of the epididymis are partially or completely cystic or solid lesions, between 1-3 cm in diameter and arise from the efferent duct epithelium of the head of epididymis." [HPO:curators] is_a: HP:0009714 ! Abnormality of the epididymis created_by: peter creation_date: 2009-01-30T11:46:33Z [Term] id: HP:0009716 name: Subependymal nodules namespace: medical_genetics def: "Small nodular masses which originate in the subependymal region of the lateral ventricles and protrude into the ventricular cavity. They may represent subependymal hamartomas of tuberous sclerosis or nodular heterotopia of grey matter." [HPO:curators] is_a: HP:0002118 ! Abnormality of the cerebral ventricles created_by: peter creation_date: 2009-01-30T11:57:28Z [Term] id: HP:0009717 name: Cortical tubers namespace: medical_genetics def: "Cortical tubers in the brain are hamartomatous lesions typically located at the gray-white matter interface, commonly in the frontal and parietal lobes. Cortical tubers are composed of abnormal glial and neural cells, and the size, number, and location vary among patients." [HPO:curators] is_a: HP:0002538 ! Abnormality of the cerebral cortex created_by: peter creation_date: 2009-01-31T12:03:16Z [Term] id: HP:0009718 name: Subependymal giant-cell astrocytoma namespace: medical_genetics def: "A demarcated, largely intraventricular tumor in the region of the foramen of Monro composed of spindle to large plump or ganglion-like cells with eosinophilic to amphophilic cytoplasm and somewhat pleomorphic nuclei with occasional prominent nucleoli. These tumors are almost always associated with tuberous sclerosis." [HPO:curators] is_a: HP:0009592 ! Astrocytoma created_by: peter creation_date: 2009-01-31T12:07:02Z [Term] id: HP:0009719 name: Hypomelanotic macules namespace: medical_genetics def: "Hypomelanotic macules (\"ash leaf spots\") are white or lighter patches of skin that may appear anywhere on the body and are caused by a lack of melanin. White ash leaf-shaped macules are considered to be characteristic of tuberous sclerosis." [HPO:curators] is_a: HP:0001010 ! Hypopigmentation of the skin created_by: peter creation_date: 2009-01-31T12:16:52Z [Term] id: HP:0009720 name: Facial angiofibromas namespace: medical_genetics def: "Facial angiofibromas, also known as adenoma sebaceum, are reddish papillary lesions (fibrous skin tumors) that are found around the nose, cheeks, and chin and considered to be characteristic of tuberous sclerosis." [HPO:curators] is_a: HP:0000271 ! Abnormality of the face created_by: peter creation_date: 2009-01-31T12:19:37Z [Term] id: HP:0009721 name: Shagreen patch namespace: medical_genetics def: "A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-coloured or occasionally pigmented, smooth or crinkled, The word shagreen refers to a type of roughened untanned leather." [HPO:curators] is_a: HP:0000951 ! Skin abnormality created_by: peter creation_date: 2009-01-31T09:36:32Z [Term] id: HP:0009722 name: Dental enamel pits namespace: medical_genetics def: "The presence of pits in the dental enamel." [HPO:curators] is_a: HP:0000682 ! Abnormality of dental enamel created_by: peter creation_date: 2009-01-31T09:44:34Z [Term] id: HP:0009723 name: Abnormality of the subungual region namespace: medical_genetics def: "A lesion located beneath a fingernail or toenail." [HPO:curators] is_a: HP:0001597 ! Abnormality of the nails created_by: peter creation_date: 2009-01-31T09:49:06Z [Term] id: HP:0009724 name: Subungual fibromata namespace: medical_genetics def: "The presence of fibromata beneath finger or toenails." [HPO:curators] synonym: "Subungual fibromas" RELATED [] is_a: HP:0009723 ! Abnormality of the subungual region created_by: peter creation_date: 2009-01-31T09:49:51Z [Term] id: HP:0009725 name: Bladder tumors namespace: medical_genetics def: "Tumors, malignant or benign, originating in the bladder." [HPO:curators] is_a: HP:0007379 ! Genitourinary tract tumors created_by: peter creation_date: 2009-01-31T10:43:55Z [Term] id: HP:0009726 name: Renal tumors namespace: medical_genetics def: "Tumors, malignant or benign, originating in the kidney." [HPO:curators] is_a: HP:0007379 ! Genitourinary tract tumors created_by: peter creation_date: 2009-01-31T10:41:48Z [Term] id: HP:0009727 name: Achromatic retinal patches namespace: medical_genetics def: "Areas of the retina lacking pigmentation." [HPO:curators] is_a: HP:0007703 ! Abnormal retinal pigmentation created_by: peter creation_date: 2009-01-31T10:49:15Z [Term] id: HP:0009728 name: Tumors of striated muscle namespace: medical_genetics def: "A tumor originating in straited muscle, either skeletal muscle or cardiac muscle." [HPO:curators] is_a: HP:0002664 ! Oncology created_by: peter creation_date: 2009-01-31T10:52:25Z [Term] id: HP:0009729 name: Cardiac rhabdomyoma namespace: medical_genetics def: "A benign tumor of cardiac striated muscle." [HPO:curators] is_a: HP:0009730 ! Rhabdomyoma created_by: peter creation_date: 2009-01-31T10:53:11Z [Term] id: HP:0009730 name: Rhabdomyoma namespace: medical_genetics def: "A benign tumor of striated muscle." [HPO:curators] is_a: HP:0009728 ! Tumors of striated muscle created_by: peter creation_date: 2009-01-31T10:54:01Z [Term] id: HP:0009731 name: Cerebral hamartomata namespace: medical_genetics def: "Hamartomatous lesions (benign focal lesions composed of disorganized tissue elements) originating in the cerebrum." [HPO:curators] is_a: HP:0004375 ! Tumors of the nervous system created_by: peter creation_date: 2009-01-31T11:02:09Z [Term] id: HP:0009732 name: Plexiform neurofibroma namespace: medical_genetics def: "A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure." [HPO:curators] is_a: HP:0001067 ! Neurofibromas created_by: peter creation_date: 2009-01-31T11:12:32Z [Term] id: HP:0009733 name: Glioma namespace: medical_genetics def: "A type of brain or spinal tumor originating from a glial cell. Gliomas can be classified as 1) ependymomas, 2) astrocytomas (including glioblastoma multiforme), 3 oligodendrogliomas, and 4) mixed gliomas, such as oligoastrocytomas." [HPO:curators] is_a: HP:0004375 ! Tumors of the nervous system created_by: peter creation_date: 2009-01-31T11:15:22Z [Term] id: HP:0009734 name: Optic glioma namespace: medical_genetics def: "A glioma originating in the optic nerves or chiasm." [HPO:curators] is_a: HP:0009733 ! Glioma created_by: peter creation_date: 2009-01-31T11:17:13Z [Term] id: HP:0009735 name: Spinal neurofibromas namespace: medical_genetics def: "Neurofibromas originating in the spine." [HPO:curators] is_a: HP:0001067 ! Neurofibromas created_by: peter creation_date: 2009-01-31T11:19:24Z [Term] id: HP:0009736 name: Tibial pseudoarthrosis namespace: medical_genetics def: "Pseudarthrosis, or \"false joint\" of the tibia is the result of a developmental failure in the tibia progressing to spontaneous fracture and subsequent fibrous nonunion. The fracture is rarely present at birth but commonly develops during the first 18 months of life." [HPO:curators] is_a: HP:0002992 ! Abnormality of the tibia created_by: peter creation_date: 2009-01-31T11:22:24Z [Term] id: HP:0009737 name: Lisch nodules namespace: medical_genetics def: "The presence of pigmented, oval and dome-shaped raised hamartomatous nevi affecting the iris." [HPO:curators] is_a: HP:0000525 ! Abnormality of the iris created_by: peter creation_date: 2009-01-31T11:45:04Z [Term] id: HP:0009738 name: Abnormal antihelix namespace: medical_genetics def: "An abnormal form of the antihelix, which is the curved prominence of cartilage, parallel with and in front of the helix, and which divides into the crura antihelicis, between which is a triangular depression, the fossa triangularis." [HPO:curators] is_a: HP:0000380 ! Abnormal helices created_by: peter creation_date: 2009-01-31T12:39:37Z [Term] id: HP:0009739 name: Hypoplastic antihelix namespace: medical_genetics def: "UNderdeveloped antihelix." [HPO:curators] is_a: HP:0009738 ! Abnormal antihelix created_by: peter creation_date: 2009-01-31T12:41:43Z [Term] id: HP:0009740 name: Aplasia of the parotid gland namespace: medical_genetics def: "Absence of the parotid gland." [HPO:curators] synonym: "Absence of the parotid gland" RELATED [] is_a: HP:0000197 ! Abnormality of parotid gland created_by: peter creation_date: 2009-01-31T12:51:47Z [Term] id: HP:0009741 name: Nephrosclerosis namespace: medical_genetics def: "Nephrosclerosis refers to thickening or scarring (\"sclerosis\") resulting from damage to the renal arterioles, also referred to as arteriosclerosis of the kidney arteries." [HPO:curators] is_a: HP:0000077 ! Abnormality of the kidneys created_by: peter creation_date: 2009-01-31T01:15:08Z [Term] id: HP:0009742 name: Stiff shoulders namespace: medical_genetics def: "Stiffness in the shoulder joints." [HPO:curators] is_a: HP:0001387 ! Joint stiffness created_by: peter creation_date: 2009-01-31T02:02:05Z [Term] id: HP:0009743 name: Distichiasis namespace: medical_genetics def: "Distichiasis refers to ouble rows of eyelashes." [HPO:curators] is_a: HP:0008496 ! Multiple rows of eyelashes created_by: peter creation_date: 2009-01-31T02:07:50Z [Term] id: HP:0009744 name: Abnormality of the spinal dura mater namespace: medical_genetics def: "An abnormality of the spinal dura mater, which is the outermost of the three layers of the meninges surrounding the spinal cord." [HPO:curators] is_a: HP:0002143 ! Abnormality of the spinal cord and vertebral column created_by: peter creation_date: 2009-01-31T02:20:51Z [Term] id: HP:0009745 name: Epidural arachnoid cysts of the spinal canal namespace: medical_genetics def: "Presence of arachnoid cysts of the spinal canal extradurally in the epidural space." [HPO:curators] is_a: HP:0009744 ! Abnormality of the spinal dura mater created_by: peter creation_date: 2009-01-31T02:22:38Z [Term] id: HP:0009746 name: Thick nasal septum namespace: medical_genetics def: "Abnormally increased thickness of the nasal septum." [HPO:curators] is_a: HP:0000419 ! Abnormality of the nasal septum created_by: peter creation_date: 2009-01-31T02:44:09Z [Term] id: HP:0009747 name: Lumbosacral hirsutism namespace: medical_genetics def: "Abnormally increased hair growth in the lumbosacral region." [HPO:curators] is_a: HP:0001007 ! Hirsutism created_by: peter creation_date: 2009-01-31T03:21:52Z [Term] id: HP:0009748 name: Fleshy earlobes namespace: medical_genetics def: "Abnormally thickened or fleshy earlobes." [HPO:curators] is_a: HP:0000363 ! Abnormality of ear lobes created_by: peter creation_date: 2009-01-31T04:02:42Z [Term] id: HP:0009749 name: Short, curved femora namespace: medical_genetics def: "Abnormally short and curved femoral bones." [HPO:curators] is_a: HP:0003097 ! Short femurs created_by: peter creation_date: 2009-01-31T04:48:14Z [Term] id: HP:0009750 name: Short, flared ribs namespace: medical_genetics def: "Abnormally short ribs with flaring from proximal to distal." [HPO:curators] is_a: HP:0000773 ! Short ribs created_by: peter creation_date: 2009-01-31T04:51:05Z [Term] id: HP:0009751 name: Aplasia of the pectoralis major muscle namespace: medical_genetics def: "Absence of the pectoralis major muscle." [HPO:curators] is_a: HP:0005258 ! Pectoral muscle hypoplasia/aplasia created_by: peter creation_date: 2009-01-31T05:18:55Z [Term] id: HP:0009752 name: Cleft in skull base namespace: medical_genetics def: "A bony defect in the skull base." [HPO:curators] is_a: HP:0002693 ! Abnormality of the skull base created_by: peter creation_date: 2009-01-31T05:45:00Z [Term] id: HP:0009753 name: Defective lung lobation namespace: medical_genetics def: "Defects in the formation of pulmonary lobules (the ca. 3.5 mm large regions each containing multiple alveoli)." [HPO:curators] is_a: HP:0002101 ! Abnormal lung lobation created_by: peter creation_date: 2009-01-31T05:52:23Z [Term] id: HP:0009754 name: Syngnathia namespace: medical_genetics def: "Syngnathia is a congenital adhesion of the maxilla and mandible by fibrous bands." [HPO:curators] is_a: HP:0000277 ! Abnormality of the mandible is_a: HP:0000326 ! Abnormality of the maxilla created_by: peter creation_date: 2009-01-31T08:50:29Z [Term] id: HP:0009755 name: Ankyloblepharon namespace: medical_genetics def: "Adhesion of the ciliary edges of the eyelids to each other." [HPO:curators] is_a: HP:0000492 ! Abnormality of the eyelid created_by: peter creation_date: 2009-01-31T08:52:59Z [Term] id: HP:0009756 name: Popliteal pterygium namespace: medical_genetics def: "A pterygium (or pterygia) occuring in the popliteal region (the back of the knee)." [HPO:curators] is_a: HP:0001059 ! Pterygia created_by: peter creation_date: 2009-01-31T08:54:18Z [Term] id: HP:0009757 name: Intercrural pterygium namespace: medical_genetics def: "A pterygium (or pterygia) in the intercrural (groin) region." [HPO:curators] is_a: HP:0001059 ! Pterygia created_by: peter creation_date: 2009-01-31T08:58:49Z [Term] id: HP:0009758 name: Pyramidal skinfold extending from the base to the top of the nails namespace: medical_genetics def: "Pyramidal skinfold extending from the base to the top of the nails is a rare and distinctive anomaly seen in popliteal pterygia syndrome." [HPO:curators] is_a: HP:0001597 ! Abnormality of the nails created_by: peter creation_date: 2009-01-31T09:08:49Z [Term] id: HP:0009759 name: Neck pterygia namespace: medical_genetics def: "Pterygia affecting the neck." [HPO:curators] is_a: HP:0001059 ! Pterygia created_by: peter creation_date: 2009-01-31T10:10:09Z [Term] id: HP:0009760 name: Antecubital pterygium namespace: medical_genetics def: "Pterygium affecting the elbow." [HPO:curators] is_a: HP:0001059 ! Pterygia created_by: peter creation_date: 2009-01-31T10:12:24Z [Term] id: HP:0009761 name: Anterior clefting of vertebral bodies namespace: medical_genetics is_a: HP:0008428 ! Vertebral clefts created_by: peter creation_date: 2009-01-31T10:40:39Z [Term] id: HP:0009762 name: Facial wrinkling namespace: medical_genetics def: "Excessive wrinkling of the skin of the face." [HPO:curators] is_a: HP:0007392 ! Excessive wrinkled skin created_by: peter creation_date: 2009-02-01T03:12:09Z [Term] id: HP:0009763 name: Limb pain namespace: medical_genetics def: "Chronic pain in the limbs with no clear focal etiology." [HPO:curators] synonym: "Pain in extremities" RELATED [] is_a: HP:0000924 ! Abnormality of the musculoskeletal system created_by: peter creation_date: 2009-02-01T03:55:10Z [Term] id: HP:0009764 name: Fleshy upturned lobules namespace: medical_genetics def: "Large, uplifted earlobes as is characteristic of Mowat-Wilson syndrome." [HPO:curators] is_a: HP:0009748 ! Fleshy earlobes created_by: peter creation_date: 2009-02-01T10:52:52Z [Term] id: HP:0009765 name: Long columella namespace: medical_genetics def: "Increased length of the columella." [HPO:curators] is_a: HP:0000419 ! Abnormality of the nasal septum created_by: peter creation_date: 2009-02-01T11:01:14Z [Term] id: HP:0009766 name: Columella extends below the ala nasi namespace: medical_genetics def: "Increased length of the columella with extension below the level of the ala nasi." [HPO:curators] is_a: HP:0009765 ! Long columella created_by: peter creation_date: 2009-02-01T11:01:24Z [Term] id: HP:0009767 name: Aplasia/Hypoplasia of the phalanges of the hand namespace: medical_genetics alt_id: HP:0006056 alt_id: HP:0006100 alt_id: HP:0009801 synonym: "Aplastic/hypoplastic phalanges" EXACT [] synonym: "Aplastic/hypoplastic phalanges of the hand" EXACT [] synonym: "Hypoplastic/absent phalanges" EXACT [] is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009768 name: Broad phalanges of the hand namespace: medical_genetics is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009769 name: Bullet-shaped phalanges of the hand namespace: medical_genetics alt_id: HP:0004270 def: "The presence of short and wide phalanges which taper distally (\"bullet shaped\")." [HPO:curators] synonym: "Bullet-shaped phalanges of the hands" EXACT [] is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009770 name: Curved phalanges of the hand namespace: medical_genetics is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009771 name: Osteolytic defects of the phalanges of the hand namespace: medical_genetics alt_id: HP:0001179 synonym: "Acro-osteolysis" EXACT [] synonym: "Acroosteolysis" EXACT [] is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009772 name: Patchy sclerosis of the phalanges of the hand namespace: medical_genetics alt_id: HP:0006071 synonym: "Phalangeal sclerosis" EXACT [] is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009773 name: Symphalangism affecting the phalanges of the hand namespace: medical_genetics alt_id: HP:0006258 synonym: "Synostosis involving phalanges of the hand" EXACT [] is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009774 name: Triangular shaped phalanges of the hand namespace: medical_genetics alt_id: HP:0009874 synonym: "Triangular shaped phalanges of the hand" EXACT [] is_a: HP:0005918 ! Abnormality of the phalanges of the hand is_a: HP:0006259 ! Abnormal form of phalanges of the hand created_by: doelkens creation_date: 2009-02-02T11:38:04Z [Term] id: HP:0009775 name: Amniotic bands namespace: medical_genetics alt_id: HP:0001078 def: "Annular constrictions around the digits, limbs, or trunk, occurring congenitally (sometimes causing intrauterine autoamputation) and also associated with a wide variety of disorders." [HPO:curators] comment: Pseudoainhum is a rare condition of unknown etiology that produces digital constricting rings, most commonly on the small fingers. synonym: "Digital constriction ring" NARROW [] synonym: "Pseudoainhum" EXACT [] is_a: HP:0000951 ! Skin abnormality is_a: HP:0001155 ! Abnormality of the hand is_a: HP:0001167 ! Abnormality of the fingers created_by: doelkens creation_date: 2009-02-02T05:36:41Z [Term] id: HP:0009776 name: Adactyly namespace: medical_genetics def: "Absence of all fingers of the hand." [HPO:curators] is_a: HP:0009380 ! Aplasia of the fingers created_by: doelkens creation_date: 2009-02-02T05:44:39Z [Term] id: HP:0009777 name: Aplasia of the 1st finger namespace: medical_genetics alt_id: HP:0001185 alt_id: HP:0002802 alt_id: HP:0009627 def: "Absent 1st finger (thumb)." [HPO:curators] synonym: "Absent thumb" EXACT [] synonym: "Absent thumbs" EXACT [] synonym: "Aplasia of the thumb" EXACT [] synonym: "Thumb aplasia" EXACT [] is_a: HP:0009380 ! Aplasia of the fingers is_a: HP:0009601 ! Aplasia/Hypoplasia of the 1st finger created_by: doelkens creation_date: 2009-02-02T05:46:42Z [Term] id: HP:0009778 name: Hypoplastic/small 1st finger namespace: medical_genetics alt_id: HP:0001183 alt_id: HP:0001186 alt_id: HP:0001589 alt_id: HP:0009628 def: "Hypoplastic/small 1st finger (thumb)." [HPO:curators] synonym: "Hypoplastic thumb" EXACT [] synonym: "Hypoplastic thumbs" EXACT [] synonym: "Short thumb" EXACT [] synonym: "Short thumbs" EXACT [] synonym: "Small thumbs" EXACT [] synonym: "Thumb hypoplasia" EXACT [] is_a: HP:0009381 ! Hypoplastic/small fingers is_a: HP:0009601 ! Aplasia/Hypoplasia of the 1st finger created_by: doelkens creation_date: 2009-02-02T05:46:42Z [Term] id: HP:0009779 name: 3-4 toe syndactyly namespace: medical_genetics def: "Fusion of the 3rd and 4th toe." [HPO:curators] is_a: HP:0001770 ! Toe syndactyly created_by: peter creation_date: 2009-02-03T04:43:16Z [Term] id: HP:0009780 name: Iliac horns namespace: medical_genetics def: "Horn-like malformations of the iliac crests with symmetrical bilateral central posterior iliac processes. A characteristic finding in the Nail-Patella syndrome. Iliac horns are visible on X-ray and may be palpable, but are asymptomatic." [HPO:curators] is_a: HP:0003796 ! Irregular iliac crest created_by: peter creation_date: 2009-02-03T04:48:00Z [Term] id: HP:0009781 name: Lester's sign namespace: medical_genetics def: "A zone of darker pigmentation around the central part of the iris with a roughly cloverleaf or flower shape." [HPO:curators] is_a: HP:0008034 ! Abnormal iris pigmentation created_by: peter creation_date: 2009-02-03T04:50:17Z [Term] id: HP:0009782 name: Aplasia/Hypoplasia of the biceps namespace: medical_genetics def: "Absence or underdevelopment of the biceps muscle." [HPO:curators] is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm created_by: peter creation_date: 2009-02-03T04:52:01Z [Term] id: HP:0009783 name: Biceps aplasia namespace: medical_genetics def: "Absence of the biceps muscle." [HPO:curators] is_a: HP:0009782 ! Aplasia/Hypoplasia of the biceps created_by: peter creation_date: 2009-02-03T04:57:47Z [Term] id: HP:0009784 name: Aplasia/Hypoplasia of the triceps namespace: medical_genetics def: "Absence or underdevelopment of the triceps muscle." [HPO:curators] is_a: HP:0001468 ! Aplasia/Hypoplasia involving the musculature of the upper arm created_by: peter creation_date: 2009-02-03T04:58:31Z [Term] id: HP:0009785 name: Triceps aplasia namespace: medical_genetics def: "Absence of the triceps muscle." [HPO:curators] is_a: HP:0009784 ! Aplasia/Hypoplasia of the triceps created_by: peter creation_date: 2009-02-03T05:15:21Z [Term] id: HP:0009786 name: Aplasia/Hypoplasia of the musculature of the thigh namespace: medical_genetics def: "Absence or underdevelopment involving the musculature of the thigh." [HPO:curators] is_a: HP:0001437 ! Abnormality of the musculature of the lower limbs created_by: peter creation_date: 2009-02-03T05:16:42Z [Term] id: HP:0009787 name: Aplasia/Hypoplasia of the qudriceps namespace: medical_genetics def: "Absence or underdevelopment of the quadriceps muscle." [HPO:curators] is_a: HP:0009786 ! Aplasia/Hypoplasia of the musculature of the thigh created_by: peter creation_date: 2009-02-03T05:17:40Z [Term] id: HP:0009788 name: Quadriceps aplasia namespace: medical_genetics def: "Absence of the quadriceps muscle." [HPO:curators] is_a: HP:0009787 ! Aplasia/Hypoplasia of the qudriceps created_by: peter creation_date: 2009-02-03T05:18:11Z [Term] id: HP:0009789 name: Perianal abscess namespace: medical_genetics def: "The presence of an abscess located around the anus." [HPO:curators] is_a: HP:0004378 ! Abnormality of the anus created_by: peter creation_date: 2009-02-03T05:19:42Z [Term] id: HP:0009790 name: Hemisacrum (S2-S5) namespace: medical_genetics def: "A hemisacral defect involving the sacral vertebrae S2 to S5." [HPO:curators] is_a: HP:0005107 ! Abnormality of the sacrum created_by: peter creation_date: 2009-02-03T05:21:37Z [Term] id: HP:0009791 name: Bifid sacrum namespace: medical_genetics def: "Presence of a cleft sacrum." [HPO:curators] is_a: HP:0005107 ! Abnormality of the sacrum created_by: peter creation_date: 2009-02-03T05:22:25Z [Term] id: HP:0009792 name: Teratoma namespace: medical_genetics def: "Teratomas are germ-cell tumors commonly composed of multiple cell types derived from one or more of the three germ layers." [HPO:curators] is_a: HP:0002664 ! Oncology created_by: peter creation_date: 2009-02-03T05:23:03Z [Term] id: HP:0009793 name: Presacral teratoma namespace: medical_genetics def: "Presence of a teratoma anterior to the sacrum." [HPO:curators] is_a: HP:0009792 ! Teratoma created_by: peter creation_date: 2009-02-03T05:23:57Z [Term] id: HP:0009794 name: Branchial anomalies namespace: medical_genetics def: "Congenital developmental defects that arise from the primitive branchial apparatus." [HPO:curators] is_a: HP:0000464 ! Neck abnormality created_by: peter creation_date: 2009-02-11T05:16:20Z [Term] id: HP:0009795 name: Branchial fistula namespace: medical_genetics def: "A congenital fistula in the neck resulting from incomplete closure of a branchial cleft." [HPO:curators] synonym: "Branchial cleft fistula" EXACT [] is_a: HP:0009794 ! Branchial anomalies created_by: peter creation_date: 2009-02-11T05:17:12Z [Term] id: HP:0009796 name: Branchial cyst namespace: medical_genetics def: "A branchial cyst is a remnant of embryonic development resulting from a failure of obliteration of the second branchial cleft and consists of a subcutaneous cystic mass located between the sternocleidomastoid muscle and the pharynx." [HPO:curators] synonym: "Branchial cleft cyst" RELATED [] is_a: HP:0009794 ! Branchial anomalies created_by: peter creation_date: 2009-02-11T05:18:08Z [Term] id: HP:0009797 name: Cholesteatoma namespace: medical_genetics def: "Cholesteatoma is a benign but potentially destructive growth consisting of keratinizing epithelium located in the middle ear and/or mastoid process." [HPO:curators] is_a: HP:0000370 ! Abnormality of the middle ear created_by: peter creation_date: 2009-02-11T05:20:04Z [Term] id: HP:0009798 name: Euthyroid goiter namespace: medical_genetics def: "A goiter (enlargement of the thyroid gland) that is not associated with functional thyroid abnormalities." [HPO:curators] is_a: HP:0000853 ! Goiter created_by: peter creation_date: 2009-02-11T05:21:23Z [Term] id: HP:0009799 name: Supernumerary spleens namespace: medical_genetics def: "The presence of two or more accessory spleens." [HPO:curators] is_a: HP:0001743 ! Abnormality of the spleen created_by: peter creation_date: 2009-02-11T05:44:01Z [Term] id: HP:0009800 name: maternal diabetes namespace: medical_genetics def: "Maternal diabetes can either be a gestational, mostly type 2 diabetes, or a type 1 diabetes. Essential is the resulting maternal hyperglycemia as a non-specific teratogen, imposing the same risk of congenital malformations to pregnant women with both type 1 and type2 diabetes." [HPO:curators] synonym: "gestational diabetes" EXACT [] synonym: "maternal hyperglycemia " NARROW [] is_a: HP:0002686 ! Prenatal maternal abnormality created_by: doelkens creation_date: 2009-02-12T05:44:58Z [Term] id: HP:0009802 name: Aplasia of the phalanges of the hand namespace: medical_genetics is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-02-12T05:56:07Z [Term] id: HP:0009803 name: Hypoplastic/small phalanges of the hand namespace: medical_genetics alt_id: HP:0001168 alt_id: HP:0005771 alt_id: HP:0006087 alt_id: HP:0006126 synonym: "Hypoplastic phalanges" EXACT [] synonym: "Hypoplastic phalanges of hands" EXACT [] synonym: "Phalangeal hypoplasia" EXACT [] synonym: "Rudimentary phalanges" EXACT [] synonym: "Short fingers" EXACT [] synonym: "Short phalanges" EXACT [] synonym: "Shortened phalanges" EXACT [] is_a: HP:0009767 ! Aplasia/Hypoplasia of the phalanges of the hand created_by: doelkens creation_date: 2009-02-12T05:57:11Z [Term] id: HP:0009804 name: Reduced number of teeth namespace: medical_genetics is_a: HP:0006483 ! Abnormal number of teeth creation_date: 2009-02-14T06:20:53Z [Term] id: HP:0009805 name: Low-output congestive heart failure namespace: medical_genetics def: "A form of heart failure characterized by reduced cardiac output. This may be seen in patients with heart failure owing to ischemic heart disease, hypertension, cardiomyopathy, and other causes." [HPO:curators] is_a: HP:0001635 ! Congestive heart failure created_by: peter creation_date: 2009-02-16T11:10:18Z [Term] id: HP:0009806 name: Nephrogenic diabetes insipidus namespace: medical_genetics def: "A form of diabetes insipidus caused by failure of the kidneys to respond to vasopressin (AVP)." [HPO:curators] is_a: HP:0000873 ! Diabetes insipidus created_by: peter creation_date: 2009-02-16T11:23:28Z [Term] id: HP:0009807 name: Single brain ventricle namespace: medical_genetics def: "The presence of a single cerebral ventricle (instead of the usual four). This may be seen as part of holoprosencephaly." [HPO:curators] is_a: HP:0002118 ! Abnormality of the cerebral ventricles created_by: peter creation_date: 2009-02-17T11:08:04Z [Term] id: HP:0009808 name: Abnormality involving the diaphyses of the upper limbs namespace: medical_genetics alt_id: HP:0003857 synonym: "Diaphyseal abnormality of the upper limbs" EXACT [] is_a: HP:0002817 ! Abnormality of the upper limbs created_by: doelkens creation_date: 2009-02-23T04:55:36Z [Term] id: HP:0009809 name: Abnormality involving the metaphyses of the upper limbs namespace: medical_genetics alt_id: HP:0003847 synonym: "Metaphyseal abnormality of the upper limbs" EXACT [] is_a: HP:0002817 ! Abnormality of the upper limbs created_by: doelkens creation_date: 2009-02-23T04:55:36Z [Term] id: HP:0009810 name: Abnormality of the joints of the upper limbs namespace: medical_genetics is_a: HP:0002817 ! Abnormality of the upper limbs created_by: doelkens creation_date: 2009-02-23T04:57:56Z [Term] id: HP:0009811 name: Abnormality of the elbow namespace: medical_genetics alt_id: HP:0002966 synonym: "Abnormality of the elbows" EXACT [] is_a: HP:0009810 ! Abnormality of the joints of the upper limbs created_by: doelkens creation_date: 2009-02-23T04:59:43Z [Term] id: HP:0009812 name: Amelia involving the upper limbs namespace: medical_genetics def: "Complete absence of one or both upper limbs." [HPO:curators] is_a: HP:0006496 ! Aplasia/Hypoplasia involving bones of the upper limbs is_a: HP:0009827 ! Amelia created_by: doelkens creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009813 name: Phocomelia involving the upper limbs namespace: medical_genetics def: "Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [HPO:curators] is_a: HP:0006496 ! Aplasia/Hypoplasia involving bones of the upper limbs is_a: HP:0009829 ! Phocomelia created_by: doelkens creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009814 name: Peromelia involving the upper limbs namespace: medical_genetics def: "The distal parts of the upper limbs (the hands) are missing leading to a stump formation." [HPO:curators] is_a: HP:0006496 ! Aplasia/Hypoplasia involving bones of the upper limbs is_a: HP:0009828 ! Peromelia created_by: doelkens creation_date: 2009-02-23T05:06:12Z [Term] id: HP:0009815 name: Aplasia/Hypoplasia of the extremities namespace: medical_genetics alt_id: HP:0002969 alt_id: HP:0006497 synonym: "Aplasia/Hypoplasia involving bones of the extremities" EXACT [] synonym: "Short or absent limbs" EXACT [] synonym: "Shortened limbs" EXACT [] is_a: HP:0002813 ! Abnormality of the extremities is_a: HP:0009115 ! Aplasia/Hypoplasia involving the skeleton created_by: doelkens creation_date: 2009-02-23T05:06:40Z [Term] id: HP:0009816 name: Hypoplasia involving bones of the lower limbs namespace: medical_genetics alt_id: HP:0003087 alt_id: HP:0005884 alt_id: HP:0006399 synonym: "Hypoplasia of the lower limbs" EXACT [] synonym: "Hypoplastic legs" EXACT [] synonym: "Short legs" EXACT [] is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs is_a: HP:0009826 ! Hypoplasia involving bones of the extremities created_by: doelkens creation_date: 2009-02-23T05:09:32Z [Term] id: HP:0009817 name: Aplasia involving bones of the lower limbs namespace: medical_genetics is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs is_a: HP:0009825 ! Aplasia involving bones of the extremities created_by: doelkens creation_date: 2009-02-23T05:10:03Z [Term] id: HP:0009818 name: Amelia involving the lower limbs namespace: medical_genetics is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs is_a: HP:0009827 ! Amelia created_by: doelkens creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009819 name: Phocomelia involving the lower limbs namespace: medical_genetics is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs is_a: HP:0009829 ! Phocomelia created_by: doelkens creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009820 name: Peromelia involving the lower limbs namespace: medical_genetics is_a: HP:0006493 ! Aplasia/Hypoplasia involving bones of the lower limbs is_a: HP:0009828 ! Peromelia created_by: doelkens creation_date: 2009-02-23T05:11:07Z [Term] id: HP:0009821 name: Hypoplasia involving forearm bones namespace: medical_genetics alt_id: HP:0003024 alt_id: HP:0003968 alt_id: HP:0006405 synonym: "Short forearm bones" EXACT [] synonym: "Short forearms" EXACT [] synonym: "Shortened forearm" EXACT [] is_a: HP:0006503 ! Aplasia/Hypoplasia involving forearm bones created_by: doelkens creation_date: 2009-02-23T05:11:42Z [Term] id: HP:0009822 name: Aplasia involving forearm bones namespace: medical_genetics is_a: HP:0006503 ! Aplasia/Hypoplasia involving forearm bones created_by: doelkens creation_date: 2009-02-23T05:12:10Z [Term] id: HP:0009823 name: Aplasia involving bones of the upper limbs namespace: medical_genetics is_a: HP:0006496 ! Aplasia/Hypoplasia involving bones of the upper limbs is_a: HP:0009825 ! Aplasia involving bones of the extremities created_by: doelkens creation_date: 2009-02-23T05:13:20Z [Term] id: HP:0009824 name: Hypoplasia involving bones of the upper limbs namespace: medical_genetics alt_id: HP:0003056 alt_id: HP:0006364 synonym: "Short arms" EXACT [] synonym: "Shortening of the arms" EXACT [] is_a: HP:0006496 ! Aplasia/Hypoplasia involving bones of the upper limbs is_a: HP:0009826 ! Hypoplasia involving bones of the extremities created_by: doelkens creation_date: 2009-02-23T05:13:20Z [Term] id: HP:0009825 name: Aplasia involving bones of the extremities namespace: medical_genetics is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:16:44Z [Term] id: HP:0009826 name: Hypoplasia involving bones of the extremities namespace: medical_genetics alt_id: HP:0003058 synonym: "Limb shortening" EXACT [] synonym: "Short limbs" EXACT [] is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:16:44Z [Term] id: HP:0009827 name: Amelia namespace: medical_genetics def: "Complete absence of one or more limbs." [HPO:curators] is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:17:25Z [Term] id: HP:0009828 name: Peromelia namespace: medical_genetics def: "The distal parts of the limbs are missing leading to a stump formation." [HPO:curators] is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:17:25Z [Term] id: HP:0009829 name: Phocomelia namespace: medical_genetics alt_id: HP:0002994 def: "Missing or malformed long bones of the extremities with the distal parts (such as hands and/or feet) connected to the variably shortened or even absent extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the hole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia)." [HPO:curators] synonym: "Phocomelia" EXACT [] is_a: HP:0009815 ! Aplasia/Hypoplasia of the extremities created_by: doelkens creation_date: 2009-02-23T05:17:25Z [Term] id: HP:0009830 name: Peripheral neuropathy namespace: medical_genetics def: "Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course." [HPO:curators] is_a: HP:0000759 ! Abnormality of the peripheral nervous system created_by: peter creation_date: 2009-03-01T07:49:18Z [Term] id: HP:0009831 name: Mononeuropathy namespace: medical_genetics def: "A focal lesion of a single peripheral nerve." [HPO:curators] is_a: HP:0009830 ! Peripheral neuropathy created_by: peter creation_date: 2009-03-01T08:27:29Z [Term] id: HP:0009832 name: Abnormality of the distal phalanges of the hand namespace: medical_genetics is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009833 name: Abnormality of the middle phalanges of the hand namespace: medical_genetics is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009834 name: Abnormality of the proximal phalanges of the hand namespace: medical_genetics is_a: HP:0005918 ! Abnormality of the phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:01:39Z [Term] id: HP:0009835 name: Aplasia/Hypoplasia of the distal phalanges of the hand namespace: medical_genetics is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009836 name: Broad distal phalanges of the hand namespace: medical_genetics alt_id: HP:0009859 def: "Abnormally wide (broad) distal phalanges of the fingers." [HPO:curators] is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009837 name: Bullet-shaped distal phalanges of the hand namespace: medical_genetics alt_id: HP:0009860 synonym: "Bullet-shaped distal phalanges of the hand" EXACT [] is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009838 name: Curved distal phalanges of the hand namespace: medical_genetics alt_id: HP:0009862 synonym: "Curved distal phalanges of the hand" EXACT [] is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009839 name: Osteolytic defects of the distal phalanges of the hand namespace: medical_genetics alt_id: HP:0001219 alt_id: HP:0009865 synonym: "Acro-osteolysis of distal phalanges" EXACT [] synonym: "Acroosteolysis of distal phalanges" EXACT [] synonym: "Osteolytic defects of the distal phalanges of the hand" EXACT [] is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009840 name: Patchy sclerosis of the distal phalanges of the hand namespace: medical_genetics alt_id: HP:0009868 synonym: "Patchy sclerosis of the distal phalanges of the hand" EXACT [] is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009841 name: Symphalangism affecting the distal phalanges of the hand namespace: medical_genetics alt_id: HP:0009871 synonym: "Symphalangism affecting the distal phalanges of the hand" EXACT [] is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:10:11Z [Term] id: HP:0009843 name: Aplasia/Hypoplasia of the middle phalanges of the hand namespace: medical_genetics is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009844 name: Broad middle phalanges of the hand namespace: medical_genetics is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009845 name: Bullet-shaped middle phalanges of the hand namespace: medical_genetics alt_id: HP:0006038 synonym: "Bullet-shaped middle phalanges of the hand" EXACT [] is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009846 name: Curved middle phalanges of the hand namespace: medical_genetics alt_id: HP:0009863 synonym: "Curved middle phalanges of the hand" EXACT [] is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009847 name: Osteolytic defects of the middle phalanges of the hand namespace: medical_genetics alt_id: HP:0009866 synonym: "Osteolytic defects of the middle phalanges of the hand" EXACT [] is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009848 name: Patchy sclerosis of the middle phalanges of the hand namespace: medical_genetics alt_id: HP:0009870 synonym: "Patchy sclerosis of the middle phalanges of the hand" EXACT [] is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009849 name: Symphalangism affecting the middle phalanges of the hand namespace: medical_genetics alt_id: HP:0009872 synonym: "Symphalangism affecting the middle phalanges of the hand" EXACT [] is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009850 name: Triangular shaped middle phalanges of the hand namespace: medical_genetics alt_id: HP:0009876 synonym: "Triangular shaped middle phalanges of the hand" EXACT [] is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009833 ! Abnormality of the middle phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:15:55Z [Term] id: HP:0009851 name: Aplasia/Hypoplasia of the proximal phalanges of the hand namespace: medical_genetics is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009852 name: Broad proximal phalanges of the hand namespace: medical_genetics is_a: HP:0009768 ! Broad phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009853 name: Bullet-shaped proximal phalanges of the hand namespace: medical_genetics alt_id: HP:0009861 synonym: "Bullet-shaped proximal phalanges of the hand" EXACT [] is_a: HP:0009769 ! Bullet-shaped phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009854 name: Curved proximal phalanges of the hand namespace: medical_genetics alt_id: HP:0009864 synonym: "Curved proximal phalanges of the hand" EXACT [] is_a: HP:0009770 ! Curved phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009855 name: Osteolytic defects of the proximal phalanges of the hand namespace: medical_genetics alt_id: HP:0006050 alt_id: HP:0009867 synonym: "Osteolytic defects of the proximal phalanges of the hand" EXACT [] synonym: "Proximal phalanges osteolysis" EXACT [] is_a: HP:0009771 ! Osteolytic defects of the phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009856 name: Patchy sclerosis of the proximal phalanges of the hand namespace: medical_genetics alt_id: HP:0009869 synonym: "Patchy sclerosis of the proximal phalanges of the hand" EXACT [] is_a: HP:0009772 ! Patchy sclerosis of the phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009857 name: Symphalangism affecting the proximal phalanges of the hand namespace: medical_genetics alt_id: HP:0009873 synonym: "Symphalangism affecting the proximal phalanges of the hand" EXACT [] is_a: HP:0009773 ! Symphalangism affecting the phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009858 name: Triangular shaped proximal phalanges of the hand namespace: medical_genetics alt_id: HP:0009877 synonym: "Triangular shaped proximal phalanges of the hand" EXACT [] is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009834 ! Abnormality of the proximal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T12:16:33Z [Term] id: HP:0009875 name: Triangular shaped distal phalanges of the hand namespace: medical_genetics alt_id: HP:0006061 alt_id: HP:0009842 synonym: "Triangular shaped distal phalanges" EXACT [] synonym: "Triangular shaped distal phalanges of the hand" EXACT [] is_a: HP:0009774 ! Triangular shaped phalanges of the hand is_a: HP:0009832 ! Abnormality of the distal phalanges of the hand created_by: doelkens creation_date: 2009-03-11T01:53:07Z [Term] id: HP:0009878 name: Cerebellar ataxia associated with quadrupedal gait namespace: medical_genetics def: "The presence of cerebellar signs and symptoms such as lack of balance associated with quadrupedal gait (locomotion on all four extremities with a 'bear-like' gait with the legs held straight)." [HPO:curators] is_a: HP:0001253 ! Cerebellar ataxia creation_date: 2009-03-28T05:22:45Z [Term] id: HP:0009879 name: Cortical gyral simplification namespace: medical_genetics def: "An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex." [HPO:curators] is_a: HP:0002536 ! Abnormal cortical gyration creation_date: 2009-03-28T06:23:59Z