rhizomelic chondrodysplasia punctata type 5
Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.
MONDO:0100265
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
is_a
PEX5 rhizomelic chondrodysplasia punctata
exact
RCDP5
exact
Rcdp5
exact
rhizomelic chondrodysplasia punctata caused by mutation in PEX5
exact
rhizomelic chondrodysplasia punctata type 5
exact
rhizomelic chondrodysplasia punctata, type 5
exact
SPBC725.07