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Human Disease and Mouse Model Detail
Human Disease Bile Acid Synthesis Defect, Congenital, 2; CBAS2
OMIM ID: 235555
Human Phenotype Ontology associations
Synonyms Bile Acid Synthesis Defect, Congenital; Cholestasis with Delta(4)-3-Oxosteroid 5-Beta-Reductase Deficiency
Genes and
mouse models
Mutations in human and/or mouse homologs are associated with this disease

      *Disease is associated/modeled with this Gene or a homolog. More...
      Human Homologs Mouse Homologs Mouse Models Homology Source
     AKR1D1* Akr1d1   HomoloGene and HGNC

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
MGI 6.07
The Jackson Laboratory