# short-rib thoracic dysplasia 11 with or without polydactyly

> asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34

**Wikidata**: [Q27164453](https://www.wikidata.org/wiki/Q27164453)  
**Source**: https://4ort.xyz/entity/short-rib-thoracic-dysplasia-11-with-or-without-polydactyly


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)