primary ciliary dyskinesia 22

Term ID

DOID:0110597

Synonyms

• CILD22
• primary ciliary dyskinesia 22 with or without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. (2)

References

• ICD10CM:Q34.8
• OMIM:615444

Ontology

Human Disease   ( DOID:0110597 )