3-Methylglutaconic Aciduria Type 5

Preferred Label : 3-Methylglutaconic Aciduria Type 5;

NCIt synonyms : MGCA5; DCMA; 3-Methylglutaconic Aciduria Type V; Dilated Cardiomyopathy with Ataxia;

NCIt definition : An autosomal recessive subtype of 3-methylglutaconic aciduria caused by mutation(s) in the DNAJC19 gene, encoding mitochondrial import inner membrane translocase subunit TIM14.;

Details

Origin ID

C173146;

UMLS CUI

C1857776;

Automatic exact mappings (from CISMeF team)
- dichloromaleic acid [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- 3-Methylglutaconic aciduria, type V [MeSH concept]
- 3-Methylglutaconic aciduria, type V [MeSH Supplementary Concept]
- 3-methylglutaconic aciduria type 5 [ICD-11 More detail]
- 3-methylglutaconic aciduria type 5 [DO Concept]
- 3-methylglutaconic aciduria type 5 (disorder) [SNOMED CT concept]
- 3-methylglutaconic aciduria, type V [OMIM Phenotype]
- Dilated cardiomyopathy with ataxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3-Methylglutaconic aciduria, type V [MeSH Supplementary Concept]
- 3-Methylglutaconic aciduria, type V [MeSH concept]
- 3-methylglutaconic aciduria type 5 (disorder) [SNOMED CT concept]
- 3-methylglutaconic aciduria, type V [OMIM Phenotype]
- Dilated cardiomyopathy with ataxia [ORDO Disease]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- DNAJC19 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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