primary ciliary dyskinesia 7

Term ID

DOID:0110605

Synonyms

• CILD7
• primary ciliary dyskinesia 7 with or without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21. https://www.ncbi.nlm.nih.gov/pubmed/18022865

References

• ICD10CM:Q34.8
• OMIM:611884

Ontology

Human Disease   ( DOID:0110605 )