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Disease Ontology Browser
primary ciliary dyskinesia 42 (DOID:0111855)
Alliance: disease page
Synonyms: CILD42; primary ciliary dyskinesia 42 without situs inversus
Alt IDs: OMIM:618695
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.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
06/14/2022
MGI 6.19
The Jackson Laboratory