primary ciliary dyskinesia 23

Summary

DOID:0110609 - primary ciliary dyskinesia 23

Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p.

Synonyms: CILD23, primary ciliary dyskinesia 23 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

: odad2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014193 - primary ciliary dyskinesia 23

MONDO:0014193 - primary ciliary dyskinesia 23

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)