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 ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Congenital bile acid synthesis defect 3, also called CBAS3 or oxysterol 7 alpha-hydroxylase deficiency, is a very rare inherited liver disease caused by ...
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 oxidoreductase deficiency type 1 is a very rare inherited disease of bile acid making. It happens when the body cannot ...
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 ...
Congenital bile acid synthesis defect 1 is a rare inherited liver disease. It happens when the body cannot make normal bile acids in the right way. Bile acids ...
Perisylvian syndrome usually means congenital bilateral perisylvian syndrome, a rare brain development disorder. In this condition, the outer part of the brain ...
Bilateral perisylvian polymicrogyria is a brain development problem that starts before birth. In this condition, the brain area around the Sylvian fissures on ...
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 axonal neuropathy with encephalopathy is a very rare inherited nerve disease that starts at birth or very soon after birth. “Congenital” means ...
Congenital autosomal recessive small-platelet thrombocytopenia is a very rare inherited blood disorder. “Congenital” means a person is born with it. “Autosomal ...
Large intestinal atresia means a baby is born with a part of the large intestine closed, blocked, missing inside, or completely separated, so stool and gas ...
Colonic atresia is a rare birth condition in which part of the colon does not form as an open tube, so stool and gas cannot pass normally. A baby is usually ...
Atresia of the large intestine means a baby is born with part of the large bowel closed, missing, or not connected in the normal way. The large intestine is ...
