# rhizomelic chondrodysplasia punctata type 5

> 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

**Wikidata**: [Q32143854](https://www.wikidata.org/wiki/Q32143854)  
**Source**: https://4ort.xyz/entity/rhizomelic-chondrodysplasia-punctata-type-5


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)