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AttributesValues
type
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label
  • congenital bile acid synthesis defect 6
described by
id
  • DOID:0111067
database_cross_reference
  • OMIM:617308
has_exact_synonym
  • CBAS6 (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
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