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Summary Literature (0)
DOID:0110611 - primary ciliary dyskinesia 27


Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13.

Synonyms: CILD27, primary ciliary dyskinesia 27 without situs inversus

Xenbase Genes : ccdc65

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014215 - primary ciliary dyskinesia 27


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)