Disease association ontology term - MONDO:0012435 - 3-methylglutaconic aciduria type 5
Term summary
- ID
- MONDO:0012435
- Name
- 3-methylglutaconic aciduria type 5
- Ontology or CV name
- Disease association
- Definition
- A syndrome characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.
