primary ciliary dyskinesia 2

Term ID

DOID:0110626

Synonyms

• CILD2
• primary ciliary dyskinesia 2 with or without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. (2)

References

• ICD10CM:Q34.8
• OMIM:606763

Ontology

Human Disease   ( DOID:0110626 )