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About: congenital bile acid synthesis defect 1     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • congenital bile acid synthesis defect 1
described by
id
  • DOID:0111071
database_cross_reference
  • MESH:C535442
  • OMIM:607765
  • ORDO:79301
  • UMLS_CUI:C1843116
has_exact_synonym
  • CBAS1 (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is first of
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