# short-rib thoracic dysplasia 14 with polydactyly

> asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the KIAA0586 gene on chromosome 14q23

**Wikidata**: [Q27164454](https://www.wikidata.org/wiki/Q27164454)  
**Source**: https://4ort.xyz/entity/short-rib-thoracic-dysplasia-14-with-polydactyly


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)