primary ciliary dyskinesia 15

Summary

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 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

: ccdc40

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013435 - primary ciliary dyskinesia 15

MONDO:0013435 - primary ciliary dyskinesia 15

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)