# rhizomelic chondrodysplasia punctata type 1

> 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

**Wikidata**: [Q2964435](https://www.wikidata.org/wiki/Q2964435)  
**Source**: https://4ort.xyz/entity/rhizomelic-chondrodysplasia-punctata-type-1


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Rhizomelic chondrodysplasia punctata is caused by deficiency of human PEX7, a homologue of the yeast PTS2 receptor
5. Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
6. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000112357/MONDO_0008972)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)