Rhizomelic chondrodysplasia punctata type 5

Definition

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.

Also known as PEX5 rhizomelic chondrodysplasia punctata, RCDP5, rhizomelic chondrodysplasia punctata caused by mutation in PEX5, rhizomelic chondrodysplasia punctata type 5, rhizomelic chondrodysplasia punctata, type 5 — per MONDO

Also identified as

• DOID 0110854 per MONDO
• OMIM 616716 per MONDO
• Orphanet 468717 per MONDO
• UMLS C4225237 per MONDO