rhizomelic chondrodysplasia punctata type 1 (Q2964435)
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A rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3.
- Rcdp1
- Peroxisome Biogenesis Disorder 9
- Pbd9
- Chondrodysplasia Punctata, Rhizomelic Form
- RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1
- RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1
- Chondrodystrophia Calcificans Punctata
| Language | Label | Description | Also known as |
|---|---|---|---|
| English | rhizomelic chondrodysplasia punctata type 1 |
A rhizomelic chondrodysplasia punctata that has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. |
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