3-Methylglutaconic Aciduria Type 1

Preferred Label : 3-Methylglutaconic Aciduria Type 1;

NCIt definition : 3-methylglutaconic aciduria inherited in an autosomal recessive pattern and caused by mutations in the AUH gene. Signs and symptoms include psychomotor developmental abnormalities, speech delay, weakness and spasm of the extremities, dystonia, and metabolic acidosis.;

Details

Origin ID

C98683;

UMLS CUI

C0342727;

Currated CISMeF NLP mapping
- 3 methylglutaconic aciduria type I [Disease (Nov.)]
- 3-Methylglutaconic aciduria type 1 (disorder) [SNOMED CT concept]
- 3-Methylglutaconic aciduria, type I [MeSH concept]
- 3-Methylglutaconic aciduria, type I [MeSH Supplementary Concept]
- 3-methylglutaconic aciduria type 1 [ORDO Disease]
- 3-methylglutaconic aciduria type 1 [ICD-11 More detail]
- 3-methylglutaconic aciduria type 1 [DO Concept]
- 3-methylglutaconic aciduria, type I [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 3 methylglutaconic aciduria type I [Disease (Nov.)]
- 3-Methylglutaconic aciduria type 1 (disorder) [SNOMED CT concept]
- 3-Methylglutaconic aciduria, type I [MeSH Supplementary Concept]
- 3-Methylglutaconic aciduria, type I [MeSH concept]
- 3-methylglutaconic aciduria, type I [OMIM Phenotype]
associated_with_malfunction_of_gene_product
- Methylglutaconyl-CoA Hydratase, Mitochondrial [NCIt concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_mapped_to_gene
- AUH Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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