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Summary Literature (0)
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: primary ciliary dyskinesia 3 with or without situs inversus, CILD3

Xenbase Genes : dnah5

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012085 - lumen of tertiary bronchus

MIM:
MIM:608644 - CILIARY DYSKINESIA, PRIMARY, 3; CILD3

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

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