primary ciliary dyskinesia 11

Term ID

DOID:0110602

Synonyms

• CILD11
• primary ciliary dyskinesia 11 without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22. https://www.ncbi.nlm.nih.gov/pubmed/19200523

References

• ICD10CM:Q34.8
• OMIM:612649

Ontology

Human Disease   ( DOID:0110602 )