primary ciliary dyskinesia 33

Term ID

DOID:0110619

Synonyms

• CILD33
• primary ciliary dyskinesia 33 without situs inversus

Definition

A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. https://www.ncbi.nlm.nih.gov/pubmed/26387594

References

• ICD10CM:Q34.8
• OMIM:616726

Ontology

Human Disease   ( DOID:0110619 )