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Summary Literature (0)
DOID:0110596 - primary ciliary dyskinesia 21

Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.

Synonyms: CILD21, primary ciliary dyskinesia 21 without situs inversus

Xenbase Genes : drc1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014123 - primary ciliary dyskinesia 21


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)