3-Methylglutaconic Aciduria

Preferred Label : 3-Methylglutaconic Aciduria;

NCIt definition : 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.;

Details

Origin ID

C98678;

UMLS CUI

C3696376;

Currated CISMeF NLP mapping
- 3 methylglutaconic aciduria [Disease (Nov.)]
- 3-Methylglutaconic aciduria [MeSH concept]
- 3-Methylglutaconic aciduria [MeSH Supplementary Concept]
- 3-Methylglutaconic aciduria [HPO term]
- 3-Methylglutaconic aciduria (disorder) [SNOMED CT concept]
- 3-methylglutaconic aciduria [ORDO Disease]
- 3-methylglutaconic aciduria [DO Concept]
- 3-methylglutaconic aciduria [ICD-11 More detail]
- 3-methylglutaconic aciduria [OMIM phenotypic series]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3 methylglutaconic aciduria [Disease (Nov.)]
- 3-Methylglutaconic aciduria [HPO term]
- 3-Methylglutaconic aciduria [MeSH concept]
- 3-Methylglutaconic aciduria [MeSH Supplementary Concept]
- 3-Methylglutaconic aciduria (disorder) [SNOMED CT concept]
- 3-methylglutaconic aciduria [ORDO Disease]
- 3-methylglutaconic aciduria [DO Concept]
- 3-methylglutaconic aciduria [ICD-11 More detail]
Validated automatic mappings to BTNT
- 3-Methylglutaconic aciduria, type I [MeSH Supplementary Concept]
- 3-Methylglutaconic aciduria, type I [MeSH concept]
- 3-methylglutaconic aciduria type 1 [ORDO Disease]
- 3-methylglutaconic aciduria, type I [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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