3-methylglutaconic aciduria
http://purl.obolibrary.org/obo/MONDO_0017359
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. [ NCIT:C98678 ]
Term info
- NCIT:C98678 (MONDO:equivalentTo)
- MESH:C579867 (MONDO:equivalentTo)
- DOID:0060336 (MONDO:equivalentTo)
- SCTID:237950009 (MONDO:equivalentTo)
- ICD10CM:E71.111 (MONDO:equivalentTo)
- UMLS:C3696376 (Orphanet:289902)
- OMIMPS:250950 (MONDO:equivalentTo)
- Orphanet:289902 (MONDO:equivalentTo)
disease_grouping, ordo_group_of_disorders
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.
http://purl.obolibrary.org/obo/DOID_0060336, https://omim.org/phenotypicSeries/PS250950, http://linkedlifedata.com/resource/umls/id/C3696376, http://purl.obolibrary.org/obo/NCIT_C98678, http://identifiers.org/mesh/C579867, http://identifiers.org/snomedct/237950009, http://purl.obolibrary.org/obo/Orphanet_289902, http://purl.bioontology.org/ontology/ICD10CM/E71.111
MONDO:0017359