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Echinobase
Summary Literature (0)
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,

Echinobase Genes :



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)