Disease association ontology term - MONDO:0013853 - pontocerebellar hypoplasia type 1B
Term summary
- ID
- MONDO:0013853
- Name
- pontocerebellar hypoplasia type 1B
- Ontology or CV name
- Disease association
- Definition
- Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene.
