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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:inborn disorder of bile acid synthesis
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Accession:EFO:MONDO:0019218 term browser browse the term
Definition:Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis (BAS) in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Nine inborn errors have been described, 7 of which lead to liver cholestasis.
Synonyms:exact_synonym: Bile Acid Synthesis Disorders;   inborn bile acid biosynthetic process disorder;   inborn error of bile acid biosynthetic process;   rare inborn error of bile acid biosynthetic process
 related_synonym: disorder of bile acid synthesis;   inborn errors of bile acid synthesis
 alt_id: MONDO:0019218
 xref: GARD:18949;   GTR:AN0923838;   MEDGEN:98324;   NANDO:2200506;   NORD:854;   ORDO:79168;   UMLS:C0400973


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Path 1
Term Annotations click to browse term
  experimental factor 510496
    material property 101018
      disposition 85638
        disease 85618
          metabolic disease 7638
            disorder of organic acid metabolism 0
              inborn disorder of bile acid synthesis 0
                bile acid CoA ligase deficiency and defective amidation 0
                cerebrotendinous xanthomatosis 0
                hypercholanemia, familial + 0
                hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 0
Path 2
Term Annotations click to browse term
  experimental factor 510496
    material property 101018
      disposition 85638
        disease 85618
          genetic disorder 10144
            inborn errors of metabolism 465
              inherited lipid metabolism disorder 231
                sterol metabolism disorder 0
                  inborn disorder of bile acid synthesis 0
                    bile acid CoA ligase deficiency and defective amidation 0
                    cerebrotendinous xanthomatosis 0
                    hypercholanemia, familial + 0
                    hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 0
paths to the root