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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:isovaleric acidemia
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Accession:DOID:14753 term browser browse the term
Definition:An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. (DO)
Synonyms:exact_synonym: IVA;   IVD deficiency;   Isovaleric Acidemia, Type II;   Isovaleric Acidemia, Type III;   Isovaleryl CoA carboxylase deficiency;   isovaleric acid CoA dehydrogenase deficiency;   isovaleric acidemia, type I;   isovaleric aciduria;   isovaleryl-CoA dehydrogenase deficiency
 primary_id: MESH:C538167
 alt_id: OMIM:243500
 xref: GARD:465;   ICD10CM:E71.110;   NCI:C98964
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15277
    Nutritional and Metabolic Diseases 7093
      disease of metabolism 7093
        inherited metabolic disorder 5482
          amino acid metabolic disorder 1490
            isovaleric acidemia 1
Path 2
Term Annotations click to browse term
  disease 15277
    Developmental Disease 13239
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12326
        genetic disease 11993
          inherited metabolic disorder 5482
            amino acid metabolic disorder 1490
              organic acidemia 375
                isovaleric acidemia 1
paths to the root