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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: CILD3; primary ciliary dyskinesia 3 with or without situs inversus

Referenced OMIM:

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)

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