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Disease Ontology Browser
primary ciliary dyskinesia 22 (DOID:0110597)
Synonyms: CILD22; primary ciliary dyskinesia 22 with or without situs inversus
Alt IDs: OMIM:615444, ICD10CM:Q34.8, ORDO:244
Definition: A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory