- OMIM ID
-
214950
- OMIM term:
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4
- Alternative terms:
-
CHOLESTASIS, INTRAHEPATIC, WITH DEFECTIVE CONVERSION OF TRIHYDROXYCOPROSTANIC ACID TO CHOLIC ACID
TRIHYDROXYCOPROSTANIC ACID IN BILE
- (∗) Location:
- 5p13.2
- (†) Associated OMIM genes:
- AMACR
- (‡) Associated MGI genes:
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