primary ciliary dyskinesia 22

Summary

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: zmynd10

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014192 - primary ciliary dyskinesia 22

MONDO:0014192 - primary ciliary dyskinesia 22

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

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

Parent(s): primary ciliary dyskinesia (is_a)