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RGD uses the Human Disease Ontology (DO, 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.

show annotations for term's descendants           Sort by:
isovaleric acidemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ivd isovaleryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: ISOVALERIC ACIDEMIA, TYPE I
ClinVar Annotator: match by term: Isovaleryl-CoA dehydrogenase deficiency
ClinVar Annotator: match by OMIM:243500
ClinVar Annotator: match by term: Isovaleric acidemia, type II
PMID:1310317, PMID:2063866, PMID:2318964, PMID:9665741, PMID:10677295, PMID:10713113, PMID:15337167, PMID:15486829, PMID:16602101, PMID:16825284, PMID:17027310, PMID:17576084, PMID:19099814, PMID:20519759, PMID:22004070, PMID:22350545, PMID:22960500, PMID:23587913, PMID:24059531, PMID:24516753, PMID:24637313, PMID:25220015, PMID:25533962, PMID:25741868, PMID:26018748, PMID:26589311, PMID:26937393, PMID:27629047, PMID:27904153, PMID:28492532, PMID:30311386 NCBI chr 3:110,669,355...110,689,789
Ensembl chr 3:110,669,312...110,690,173
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Nutritional and Metabolic Diseases 4727
      disease of metabolism 4727
        inherited metabolic disorder 2237
          amino acid metabolic disorder 433
            isovaleric acidemia 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          inherited metabolic disorder 2237
            amino acid metabolic disorder 433
              organic acidemia 54
                isovaleric acidemia 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.