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Summary Literature (0)
DOID:0110838 - Usher syndrome type 2A

Disease Ontology Definition:An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41.

Synonyms: USH2A, Usher syndrome type IIA

Xenbase Genes : ush2a, pdzd7

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010169 - Usher syndrome type 2A


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): Usher syndrome type 2 (is_a)