congenital bile acid synthesis defect 4
An anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.
MONDO:0017753
obsolete disorder of peroxisomal alpha-, beta- and omega-oxidation (obsolete MONDO:0017753)
excluded_subClassOf
MONDO:0013681
alpha-methylacyl-CoA racemase deficiency
is_a
MONDO:0018841
congenital bile acid synthesis defect
is_a
2-methylacyl-CoA racemase deficiency
exact
AMACR deficiency
broad
Alpha-methyl-acyl-CoA racemase deficiency
exact
BAS defect type 4
exact
BASD4
exact
CBAS4
exact
Trihydroxycoprostanic acid to cholic acid
related
bile acid synthesis defect, congenital, 4
related
bile acid synthesis defect, congenital, type 4
exact
cholestasis, intrahepatic, with defective conversion of
related
congenital bile acid synthesis defect 4
exact
congenital bile acid synthesis defect type 4
exact
liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome
exact