# primary ciliary dyskinesia 5

> primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has material basis in homozygous mutation in the HYDIN gene on chromosome 16q22

**Wikidata**: [Q28024750](https://www.wikidata.org/wiki/Q28024750)  
**Source**: https://4ort.xyz/entity/primary-ciliary-dyskinesia-5


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6c491ab7-496f-43b9-9bca-500901cb686d-2022-02-22T183411.247Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000157423/MONDO_0012088)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)