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DOID:0110600 - primary ciliary dyskinesia 29
Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15.
Synonyms: CILD29, primary ciliary dyskinesia 29 without situs inversus,
Echinobase Genes :
MIM:615872 - ciliary dyskinesia, primary, 29; cild29 |
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)