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Summary Literature (1)
DOID:0060844 - Norrie disease

Disease Ontology Definition:A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11.

Synonyms: Episkopi blindness, Norrie-Warburg disease, atrophia bulborum hereditaria,

Xenbase Genes : ndp

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010691 - Norrie disease


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): X-linked monogenic disease (is_a), syndrome (is_a)