primary ciliary dyskinesia 10

Term ID

DOID:0110612

Synonyms

• CILD10
• primary ciliary dyskinesia 10 with or without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21. https://www.ncbi.nlm.nih.gov/pubmed/19052621

References

• ICD10CM:Q34.8
• OMIM:612518

Ontology

Human Disease   ( DOID:0110612 )