Disease association ontology term - MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5
Term summary
- ID
- MONDO:0014743
- Name
- rhizomelic chondrodysplasia punctata type 5
- Ontology or CV name
- Disease association
- Definition
- Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.
