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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: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)