congenital bile acid synthesis defect 1

congenital bile acid synthesis defect 1

http://purl.obolibrary.org/obo/DOID_0111071

A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. [ url:https://www.ncbi.nlm.nih.gov/pubmed/3470305 url:https://www.ncbi.nlm.nih.gov/pubmed/11067870 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: CBAS1

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database cross reference

ORDO:79301
SNOMEDCT_US_2023_03_01:238033007
GARD:9813
MIM:607765
UMLS_CUI:C1843116
MESH:C535442

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DO_rare_slim

acronym

CBAS1

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disease_ontology

DOID:0111071

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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