3-methylglutaconic aciduria
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.
class Information
has exact match
- http://identifiers.org/mesh/C579867
- http://identifiers.org/medgen/777186
- http://identifiers.org/snomedct/237950009
- http://linkedlifedata.com/resource/umls/id/C3696376
- 3-Methylglutaconic Aciduriancit
- http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1008261602
- http://purl.bioontology.org/ontology/ICD10CM/E71.111
- 3-methylglutaconic aciduriadoid
- 3-methylglutaconic aciduriaordo
- https://omim.org/phenotypicSeries/PS250950
has_dbxref
class Relations
Subclass of