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Summary Literature (0)
DOID:0111857 - primary ciliary dyskinesia 45


Disease Ontology Definition:A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2.

Synonyms: CILD45, primary ciliary dyskinesia 45 without situs inversus

Xenbase Genes :


MIM:
MIM:618801 - CILIARY DYSKINESIA, PRIMARY, 45; CILD45

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), primary ciliary dyskinesia (is_a)