primary ciliary dyskinesia 32

Term ID

DOID:0110603

Synonyms

• CILD32
• primary ciliary dyskinesia 32 without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. https://www.ncbi.nlm.nih.gov/pubmed/26073779

References

• ICD10CM:Q34.8
• OMIM:616481

Ontology

Human Disease   ( DOID:0110603 )