DOID:0110599 - primary ciliary dyskinesia 3
Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15.
Synonyms: CILD3; primary ciliary dyskinesia 3 with or without situs inversus
|OMIM:608644 - CILIARY DYSKINESIA, PRIMARY, 3; CILD3|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : dnah5
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): primary ciliary dyskinesia (is_a)