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DOID:0110607 - primary ciliary dyskinesia 28
Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22.
Synonyms: CILD28, primary ciliary dyskinesia 28 with or without situs inversus
Xenbase Genes
:
spag1
| MONDO:0014216 - primary ciliary dyskinesia 28 |
| MIM:615505 - CILIARY DYSKINESIA, PRIMARY, 28; CILD28 |
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)