primary ciliary dyskinesia 30

Term ID

DOID:0110624

Synonyms

• CILD30
• primary ciliary dyskinesia 30 without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. (2)

References

• ICD10CM:Q34.8
• OMIM:616037

Ontology

Human Disease   ( DOID:0110624 )