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Echinobase
Summary Literature (0)
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,

Echinobase Genes : cfap298


OMIM:
MIM:615500 - ciliary dyskinesia, primary, 26; cild26

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)