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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 MCIDAS 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

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