# primary ciliary dyskinesia 24

> primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has material basis in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22

**Wikidata**: [Q28024762](https://www.wikidata.org/wiki/Q28024762)  
**Source**: https://4ort.xyz/entity/primary-ciliary-dyskinesia-24


## References

1. Disease Ontology
2. UniProt
3. Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. Monarch Disease Ontology release 2018-06-29