primary ciliary dyskinesia 33

Summary

DOID:0110619 - primary ciliary dyskinesia 33

Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24.

Synonyms: CILD33, primary ciliary dyskinesia 33 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

: gas8

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0014750 - primary ciliary dyskinesia 33

MONDO:0014750 - primary ciliary dyskinesia 33

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)