|
DOID:0110608 - primary ciliary dyskinesia 19
Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 on chromosome 8q24.
Synonyms: CILD19, primary ciliary dyskinesia 19 with or without situs inversus,
Echinobase Genes :
MIM:614935 - ciliary dyskinesia, primary, 19; cild19 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
primary ciliary dyskinesia (is_a)