FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term isovaleric acidemia ID (Ontology) DOID:14753 (Human Disease)
Definition An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine.
Also Known As "isovaleric acid CoA dehydrogenase deficiency" ; "isovaleric aciduria" ; "Isovaleryl-CoA dehydrogenase deficiency"
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Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 isovaleric acidemia       1      1
 for disease ribbon | isovaleric acidemia       --       1
 model of | isovaleric acidemia       1      1
Spanning Tree (Parents/Children)
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  amino acid metabolic disorder
   |__organic acidemia
       |__isovaleric acidemia  2 rec.
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Is a organic acidemia
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Synonyms
  • "isovaleric acid CoA dehydrogenase deficiency" EXACT
    "isovaleric aciduria" EXACT
    "Isovaleryl-CoA dehydrogenase deficiency" EXACT
Secondary IDs
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GARD:465
ICD10CM:E71.110
MESH:C538167
MIM:243500
NCI:C98964
SNOMEDCT_US_2023_03_01:87827003
UMLS_CUI:C0268575