Disease association ontology term - MONDO:0014485 - pontocerebellar hypoplasia, type 1C
Term summary
- ID
- MONDO:0014485
- Name
- pontocerebellar hypoplasia, type 1C
- Ontology or CV name
- Disease association
- Definition
- Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene.
