congenital bile acid synthesis defect 6

congenital bile acid synthesis defect 6

http://purl.obolibrary.org/obo/DOID_0111067

A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/27884763 url:https://www.ncbi.nlm.nih.gov/pubmed/27647924 ]

Synonyms: CBAS6

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database cross reference

MIM:617308

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DO_rare_slim

acronym

CBAS6

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disease_ontology

DOID:0111067

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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