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3-methylglutaconic aciduria
Disease Summary
Associated Targets (10)
Tbio
10
Mondo Description A group of five inherited disorders caused by mutations in the AUH, DNAJC19, OPA3, and TAZ genes. The disorders are characterized by impairment in the function of mitochondria, resulting in the accumulation and excretion of 3-methylglutaconic acid, and the presence of 3-methylglutaric acid in the urine.
Disease Ontology Description An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060336
ICD10:E71.111
MESH:C579867
NCIT:C98678
OMIMPS:250950
Orphanet:289902
SCTID:237950009
UMLS:C3696376
MONDO:0017359
High level summary of knowledge for a disease, including descriptions and datasource references.