congenital bile acid synthesis defect 3
congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has material basis in homozygous mutation in the CYP7B1 gene on chromosome 8q12
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Summary
congenital bile acid synthesis defect 3 is a rare disease[1].
Key Facts
- congenital bile acid synthesis defect 3's instance of is recorded as rare disease[2].
- congenital bile acid synthesis defect 3's instance of is recorded as class of disease[3].
- congenital bile acid synthesis defect 3 is a type of congenital bile acid synthesis defect[4].
- congenital bile acid synthesis defect 3 is a type of genetic disease[5].
- congenital bile acid synthesis defect 3's genetic association is recorded as CYP7B1[6].
- congenital bile acid synthesis defect 3's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111070[7].
- congenital bile acid synthesis defect 3's exact match is recorded as http://identifiers.org/doid/DOID:0111070[8].
- congenital bile acid synthesis defect 3's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_79302[9].
- congenital bile acid synthesis defect 3's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].