# asphyxiating thoracic dystrophy 2

> asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the IFT80 gene on chromosome 3q25

**Wikidata**: [Q27677620](https://www.wikidata.org/wiki/Q27677620)  
**Source**: https://4ort.xyz/entity/asphyxiating-thoracic-dystrophy-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)