Disease association ontology term - MONDO:0014351 - pontocerebellar hypoplasia type 9
Term summary
- ID
- MONDO:0014351
- Name
- pontocerebellar hypoplasia type 9
- Ontology or CV name
- Disease association
- Definition
- Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene.