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Ontology Browser

Term:
congenital bile acid synthesis defect 2 (DOID:0111069)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
congenital bile acid synthesis defect 1  
congenital bile acid synthesis defect 2  
A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. (DO)
congenital bile acid synthesis defect 3  
congenital bile acid synthesis defect 4  
congenital bile acid synthesis defect 5  
congenital bile acid synthesis defect 6  

Synonyms
Exact Synonyms: CBAS2 ;   cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency ;   congenital bile acid synthesis defect type 2 (CBAS2)
Primary IDs: MESH:C535443
Alternate IDs: OMIM:235555 ;   RDO:0000560
Xrefs: ORDO:79303
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12970144 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3198770 "DO", ORDO:79303 "DO"

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.