Summary Literature (0)

DOID:0110621 - primary ciliary dyskinesia 17

Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21.

Synonyms: CILD17, primary ciliary dyskinesia 17 with or without situs inversus,

Echinobase Genes : ccdc103


OMIM:

MIM:614679 - ciliary dyskinesia, primary, 17; cild17

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee