primary ciliary dyskinesia 42

Term ID

DOID:0111855

Synonyms

• CILD42
• primary ciliary dyskinesia 42 without situs inversus

Definition

A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. https://www.ncbi.nlm.nih.gov/pubmed/25048963

References

• OMIM:618695

Ontology

Human Disease   ( DOID:0111855 )