Summary Literature (0)

DOID:0110604 - primary ciliary dyskinesia 18

Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22.

Synonyms: CILD18, primary ciliary dyskinesia 18 with or without situs inversus,

Echinobase Genes : dnaaf5


OMIM:

MIM:614874 - ciliary dyskinesia, primary, 18; cild18

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

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