# short-rib thoracic dysplasia 7 with or without polydactyly

> asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1

**Wikidata**: [Q27164449](https://www.wikidata.org/wiki/Q27164449)  
**Source**: https://4ort.xyz/entity/short-rib-thoracic-dysplasia-7-with-or-without-polydactyly


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_9e3f8578-6df2-4503-9e38-c110a9f00924-2022-04-08T012255.670Z)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)