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inherited organic acidemia

Disease Summary
Associated Targets (243)
Tbio

185

Tchem

39

Tclin

15

Tdark

4


GARD Rare
Mondo Description An inherited disorder that affects the metabolism of any acidic compound containing carbon in a covalent linkage.
Disease Ontology Description An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids.
Mondo Term and Equivalent IDs
MONDO:0000688:  inherited organic acidemia
GARD:0009433: 
NCIT:C101334: 
Orphanet:289899: 
UMLS:C1263739: