primary ciliary dyskinesia 29

Term ID

DOID:0110600

Synonyms

• CILD29
• primary ciliary dyskinesia 29 without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. (2)

References

• ICD10CM:Q34.8
• OMIM:615872

Ontology

Human Disease   ( DOID:0110600 )