Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/231690 http://purl.bioontology.org/ontology/OMIM/231690
Preferred Name	GLUTARIC ACIDURIA III
Synonyms	GA3 GA III GLUTARYL-CoA OXIDASE DEFICIENCY
Type	http://www.w3.org/2002/07/owl#Class

altLabel	GA3 GA III GLUTARYL-CoA OXIDASE DEFICIENCY
prefLabel	GLUTARIC ACIDURIA III
Gene Symbol	SUGCT C7orf10 GA3
Scope Statement	Treatment with riboflavin has been helpful in some patients [MISCELLANEOUS] Many patients are asymptomatic [MISCELLANEOUS] No consistent disease phenotype [MISCELLANEOUS] Caused by mutation in the succinyl-CoA:glutarate-CoA transferase gene (SUGCT, 609187.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU048930 http://purl.bioontology.org/ontology/OMIM/MTHU048931 http://purl.bioontology.org/ontology/OMIM/MTHU001214 http://purl.bioontology.org/ontology/OMIM/MTHU000226 http://purl.bioontology.org/ontology/OMIM/MTHU048929 http://purl.bioontology.org/ontology/OMIM/MTHU000225 http://purl.bioontology.org/ontology/OMIM/MTHU048928 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU001215 See more See less
tui	T047
Gene Locus	7p14
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	231690
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C0342873
OMIM Entry Type	3
OMIM MimType Value	pound

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