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Human Disease and Mouse Model Detail
Human Disease

Term: Bile Acid Synthesis Defect, Congenital, 2; CBAS2
OMIM ID: 235555

Synonyms Cholestasis with Delta(4)-3-Oxosteroid 5-Beta-Reductase Deficiency
Associated Genes

Orthologous mouse and human markers where mutations in one or both species have been associated with phenotypes characteristic of this disease.

Mouse Gene
Human Gene
 
Characteristics of this human disease are associated with mutations in...
     
Akr1d1 AKR1D1
  human...the human gene.
     MGI data currently do not associate this disease with mutations in the orthologous mouse gene.
     
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Send questions and comments to User Support. 		last database update
04/03/2013
MGI 5.12 		The Jackson Laboratory