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Metadata
ID	DOID:0111855
Name	primary ciliary dyskinesia 42
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
Xrefs	OMIM:618695
Synonyms	CILD42 [EXACT] primary ciliary dyskinesia 42 without situs inversus [EXACT]
Parent Relationships	is_a primary ciliary dyskinesia is_a autosomal recessive disease