Disease association ontology term - MONDO:0014370 - pontocerebellar hypoplasia type 2E
Term summary
- ID
- MONDO:0014370
- Name
- pontocerebellar hypoplasia type 2E
- Ontology or CV name
- Disease association
- Definition
- Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene.
