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Human Disease and Mouse Model Detail
Human Disease Bile Acid Synthesis Defect, Congenital, 4; CBAS4
OMIM ID: 214950
Synonyms Bile acid synthesis defect; Cholestasis, Intrahepatic, with Defective Conversion of Trihydroxycoprostanic Acid to Cholic Acid; Trihydroxycoprostanic Acid in Bile
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Gene is associated with the disease in this species
      Mouse Homologs Human Homologs Mouse Models Mouse : Human
Homology Class
     Amacr AMACR*   1:1 Homology

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory