primary ciliary dyskinesia 2

Summary

DOID:0110626 - primary ciliary dyskinesia 2

Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13.

Synonyms: CILD2, primary ciliary dyskinesia 2 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

: dnaaf3

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011718 - primary ciliary dyskinesia 2

MONDO:0011718 - primary ciliary dyskinesia 2

MIM:

MIM:606763 - CILIARY DYSKINESIA, PRIMARY, 2; CILD2

MIM:606763 - CILIARY DYSKINESIA, PRIMARY, 2; CILD2

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)