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Rhizomelic chondrodysplasia punctata type 5
rareAny rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.
- Identifiers
- MONDO:0014743 OMIM:616716Orphanet:468717
- Causal genes
- PEX5
- Also known as
- PEX5 rhizomelic chondrodysplasia punctata · RCDP5 · rhizomelic chondrodysplasia punctata caused by mutation in PEX5 · rhizomelic chondrodysplasia punctata, type 5
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