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Summary Literature (1)
DOID:0110623 - primary ciliary dyskinesia 15

Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25.

Synonyms: CILD15, primary ciliary dyskinesia 15 with or without situs inversus,

Xenbase Genes : ccdc40

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013435 - primary ciliary dyskinesia 15

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)