# pseudoachondroplasia

> osteochondrodysplasia that has material basis in mutations in the COMP gene which results in short limb dwarfism

**Wikidata**: [Q693578](https://www.wikidata.org/wiki/Q693578)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Pseudoachondroplasia)  
**Source**: https://4ort.xyz/entity/pseudoachondroplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_630905e9-0f42-452b-81fa-7fad4eae08f9-2020-02-07T180000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000105664/MONDO_0008322)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)