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Summary Literature (0)
DOID:0110624 - primary ciliary dyskinesia 30


Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13.

Synonyms: CILD30, primary ciliary dyskinesia 30 without situs inversus,

Xenbase Genes : odad3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014465 - primary ciliary dyskinesia 30


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): primary ciliary dyskinesia (is_a)