rhizomelic chondrodysplasia punctata type 5 (Q32143854)
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A rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31.
- Rcdp5
- Rhizomelic Chondrodysplasia Punctata, Type 5
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | rhizomelic chondrodysplasia punctata type 5 |
A rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. |
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