primary ciliary dyskinesia 25

Summary

DOID:0110615 - primary ciliary dyskinesia 25

Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21.

Synonyms: CILD25, primary ciliary dyskinesia 25 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

: dnaaf4

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014203 - primary ciliary dyskinesia 25

MONDO:0014203 - primary ciliary dyskinesia 25

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)