congenital autosomal recessive small-platelet thrombocytopenia
Also known as: CARST
Additional Disease Briefs
congenital axonal neuropathy with encephalopathy
congenital bilateral absence of vas deferens
Also known as: congenital bilateral agenesis of vas deferens, congenital bilateral aplasia of vas deferens
congenital bilateral aplasia of vas deferens from CFTR mutation
Also known as: CAVD, CBAVD, congenital bilateral absence of vas deferens, congenital bilateral aplasia of the vas deferens, vas deferens, congenital bilateral aplasia of
congenital bilateral megacalycosis
congenital bile acid synthesis defect 1
Also known as: 3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency, 3-alpha beta-hydroxy-delta-5-C27-steroid oxidoreductase, deficiency of, 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency type 1, BASD1, CBAS1, HSD3B7 congenital bile acid synthesis defect, bile acid synthesis defect, congenital, 1, bile acid synthesis defect, congenital, type 1, congenital bile acid synthesis defect 1, congenital bile acid synthesis defect caused by mutation in HSD3B7, congenital bile acid synthesis defect type 1, congenital bile acid synthesis defect, type 1
congenital bile acid synthesis defect 2
Also known as: AKR1D1 congenital bile acid synthesis defect, BASD2, CBAS2, bile acid synthesis defect, congenital, 2, bile acid synthesis defect, congenital, type 2, cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency, cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency, congenital bile acid synthesis defect caused by mutation in AKR1D1, congenital bile acid synthesis defect type 2, congenital bile acid synthesis defect, type 2
congenital bile acid synthesis defect 3
Also known as: BASD3, CBAS3, CYP7B1 congenital bile acid synthesis defect, bile acid synthesis defect, congenital, 3, bile acid synthesis defect, congenital, type 3, congenital bile acid synthesis defect caused by mutation in CYP7B1, congenital bile acid synthesis defect type 3, oxysterol 7-alpha-hydroxylase deficiency
congenital bile acid synthesis defect 4
Also known as: 2-methylacyl-CoA racemase deficiency, AMACR deficiency, Alpha-methyl-acyl-CoA racemase deficiency, BAS defect type 4, BASD4, CBAS4, Trihydroxycoprostanic acid in bile, Trihydroxycoprostanic acid to cholic acid, bile acid synthesis defect, congenital, 4, bile acid synthesis defect, congenital, type 4, cholestasis, intrahepatic, with defective conversion of, cholestasis, intrahepatic, with defective conversion of Trihydroxycoprostanic acid to cholic acid, congenital bile acid synthesis defect 4, congenital bile acid synthesis defect type 4, intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid, liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome, trihydroxycoprostanic acid in bile
congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Also known as: serpentine-like syndrome