Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome is a very rare inherited metabolic disease. It is also called alpha-methylacyl-CoA racemase ...

Intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid is a very rare inherited bile acid synthesis disorder. It is ...

Alpha-methyl-acyl-CoA racemase deficiency, often shortened to AMACR deficiency, is a very rare inherited metabolic disease. It happens when the body cannot ...

2-methylacyl-CoA racemase deficiency is a very rare inherited metabolic disease. It happens when the body does not make enough working AMACR enzyme. This ...

Congenital bile acid synthesis defect 4, also called CBAS4 or AMACR deficiency, is a very rare inherited disorder caused by harmful changes in the AMACR gene. ...

CYP7B1 oxysterol 7-alpha-hydroxylase deficiency is a very rare inherited disease. It happens when both copies of the CYP7B1 gene do not work properly. This ...

Congenital bile acid synthesis defect caused by mutation in CYP7B1 is a very rare inherited liver disease. Its best known medical name is congenital bile acid ...

Congenital bile acid synthesis defect caused by mutation in AKR1D1 is also called congenital bile acid synthesis defect type 2, CBAS2, or delta-4-3-oxosteroid ...

AKR1D1 congenital bile acid synthesis defect is a very rare inherited liver and metabolism disease. Its usual formal name is congenital bile acid synthesis ...

Congenital bile acid synthesis defect 2 is a very rare inherited liver disease. It happens when the body cannot make normal bile acids in the right way. Bile ...

Congenital bile acid synthesis defect caused by mutation in HSD3B7 is a rare inherited liver and metabolism disease. It is also called congenital bile acid ...

3-beta-hydroxy-delta-5-c27-steroid dehydrogenase deficiency is a very rare inherited liver disease. It is one of the bile acid synthesis disorders. In this ...

Perisylvian syndrome usually means congenital bilateral perisylvian syndrome, a rare brain development disorder. In this condition, the outer part of the brain ...

Congenital bilateral perisylvian syndrome, often linked to bilateral perisylvian polymicrogyria, is a rare brain development disorder present before birth. In ...

Congenital bilateral aplasia of vas deferens, also called congenital bilateral absence of the vas deferens, means a male is born without both vas deferens ...

Congenital bilateral agenesis of vas deferens, usually called CBAVD, means a man is born without both vas deferens. The vas deferens are the two tubes that ...

Congenital bilateral absence of vas deferens, often shortened to CBAVD, is a condition present from birth in which both vas deferens tubes do not develop ...

Congenital aortopulmonary septal defect is a very rare birth defect of the heart. It is also called an aortopulmonary window. In this condition, there is an ...

Congenital aortopulmonary artery fistula is a very rare heart blood vessel defect present from birth. In very simple words, it means there is an abnormal ...

Congenital aortopulmonary window is a rare heart defect present at birth. In this condition, there is an abnormal opening between the ascending aorta and the ...