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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
| MIM:612444 - ciliary dyskinesia, primary, 9; cild9 |
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)