congenital bile acid synthesis defect 5

congenital bile acid synthesis defect 5

http://purl.obolibrary.org/obo/DOID_0111066

A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. [ url:https://www.ncbi.nlm.nih.gov/pubmed/25168382 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: CBAS5

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MIM:616278

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DO_rare_slim

acronym

CBAS5

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disease_ontology

DOID:0111066

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congenital bile acid synthesis defect
has symptom some left upper quadrant abdominal rigidity
disease has basis in some structural_variant
disease has basis in some Abnormality of prenatal development or birth