primary ciliary dyskinesia 27

Term ID

DOID:0110611

Synonyms

• CILD27
• primary ciliary dyskinesia 27 without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/24094744

References

• ICD10CM:Q34.8
• OMIM:615504

Ontology

Human Disease   ( DOID:0110611 )