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DOID:0110604 - primary ciliary dyskinesia 18
Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22.
Synonyms: CILD18, primary ciliary dyskinesia 18 with or without situs inversus
Xenbase Genes
:
dnaaf5
| MONDO:0013940 - primary ciliary dyskinesia 18 |
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)