Disease association ontology term - MONDO:0014874 - pontocerebellar hypoplasia, type 2F
Term summary
- ID
- MONDO:0014874
- Name
- pontocerebellar hypoplasia, type 2F
- Ontology or CV name
- Disease association
- Definition
- Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene.