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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
Echinobase Genes
:
dnah5
| 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, Ontobee
Parent(s):
primary ciliary dyskinesia (is_a)