Summary Literature (0)

DOID:0110597 - primary ciliary dyskinesia 22

Disease Ontology 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.

Synonyms: CILD22, primary ciliary dyskinesia 22 with or without situs inversus,

Echinobase Genes : zmynd10


OMIM:

MIM:615444 - ciliary dyskinesia, primary, 22; cild22

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee