FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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General Information
Term congenital bile acid synthesis defect 1 ID (Ontology) DOID:0111071 (Human Disease)
Definition 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.
Also Known As "CBAS1"
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 Genes
 congenital bile acid synthesis defect 1       1
 for disease ribbon | congenital bile acid synthesis defect 1       1
 model of | congenital bile acid synthesis defect 1       1
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physical disorder_____________________
steroid inherited metabolic disorder__|
                                      congenital bile acid synthesis defect
                                       |__congenital bile acid synthesis defect 1  1 rec.
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Is a congenital bile acid synthesis defect
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Synonyms
  • "CBAS1" EXACT OMO:0003012
Secondary IDs
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GARD:9813
MESH:C535442
MIM:607765
ORDO:79301
SNOMEDCT_US_2023_03_01:238033007
UMLS_CUI:C1843116