# short-rib thoracic dysplasia 8 with or without polydactyly

> asphyxiating thoracic dystrophy that has material basis in compound heterozygous mutation in the WDR60 gene on chromosome 7q36

**Wikidata**: [Q27164452](https://www.wikidata.org/wiki/Q27164452)  
**Source**: https://4ort.xyz/entity/short-rib-thoracic-dysplasia-8-with-or-without-polydactyly


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)