Disease association ontology term - MONDO:0012481 - mevalonic aciduria
Term summary
- ID
- MONDO:0012481
- Name
- mevalonic aciduria
- Ontology or CV name
- Disease association
- Definition
- Mevalonic aciduria (MVA) is a rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.
