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Summary Literature (0)
DOID:0110628 - primary ciliary dyskinesia 24

Disease Ontology Definition:A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22.

Synonyms: CILD24, primary ciliary dyskinesia 24 without situs inversus,

Xenbase Genes : rsph1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014202 - primary ciliary dyskinesia 24


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)