primary ciliary dyskinesia 52

Term ID

DOID:0070765

Synonyms

• CILD52

Definition

A primary ciliary dyskinesia characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects that has_material_basis_in homozygous or compound heterozygous mutation in the DAW1 gene on chromosome 2q36. https://pubmed.ncbi.nlm.nih.gov/36074124/

References

• MIM:620570
• UMLS_CUI:C5882714

Ontology

Human Disease   ( DOID:0070765 )