primary ciliary dyskinesia 13

Summary

DOID:0110618 - primary ciliary dyskinesia 13

Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24.

Synonyms: CILD13, primary ciliary dyskinesia 13 with or without situs inversus

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: dnaaf1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013174 - primary ciliary dyskinesia 13

MONDO:0013174 - primary ciliary dyskinesia 13

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)