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Echinobase
Summary Literature (0)
DOID:0110622 - primary ciliary dyskinesia 9

Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25.

Synonyms: CILD9, primary ciliary dyskinesia 9 with or without situs inversus,

Echinobase Genes : dnai2


OMIM:
MIM:612444 - ciliary dyskinesia, primary, 9; cild9

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)