congenital bile acid synthesis defect 3

congenital bile acid synthesis defect 3

http://purl.obolibrary.org/obo/DOID_0111070

A 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. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/9802883 ]

Synonyms: CBAS3 oxysterol 7-alpha-hydroxylase deficiency

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database cross reference

UMLS_CUI:C3151147
ORDO:79302
MESH:C566340
MIM:613812

Subsets

DO_rare_slim

acronym

CBAS3

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disease_ontology

DOID:0111070

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Subclass of:

congenital bile acid synthesis defect
disease has basis in some structural_variant
disease has basis in some Abnormality of prenatal development or birth