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DOID:0110598 - primary ciliary dyskinesia 14
Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26.
Synonyms: CILD14, primary ciliary dyskinesia 14 with or without situs inversus
Xenbase Genes
:
ccdc39
| MONDO:0013434 - primary ciliary dyskinesia 14 |
| MIM:613807 - CILIARY DYSKINESIA, PRIMARY, 14; CILD14 |
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)