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DOID:0110627 - primary ciliary dyskinesia 26
Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22.
Synonyms: CILD26, primary ciliary dyskinesia 26 with or without situs inversus
Xenbase Genes
:
cfap298
| MONDO:0014211 - primary ciliary dyskinesia 26 |
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)