PEX5 rhizomelic chondrodysplasia punctataRCDP5Rcdp5rhizomelic chondrodysplasia punctata caused by mutation in PEX5rhizomelic chondrodysplasia punctata type 5rhizomelic chondrodysplasia punctata, type 5
Definition
Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.
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