Rhizomelic chondrodysplasia punctata type 5

MONDO:0014743

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, Rcdp5, rhizomelic chondrodysplasia punctata caused by mutation in PEX5, rhizomelic chondrodysplasia punctata type 5, rhizomelic chondrodysplasia punctata, type 5

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