primary ciliary dyskinesia 36

Term ID

DOID:0111850

Synonyms

• CILD36
• X-linked primary ciliary dyskinesia 36

Definition

A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. https://www.ncbi.nlm.nih.gov/pubmed/28041644

References

• MIM:300991

Ontology

Human Disease   ( DOID:0111850 )