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DOID:0060844 - Norrie disease
Disease Ontology Definition:A X-linked disease characterized by X-linked recessive inheritance of 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 that has_material_basis_in mutation in the NDP gene on chromosome Xp11.
Synonyms: Episkopi blindness, Norrie-Warburg disease, atrophia bulborum hereditaria,
Echinobase Genes :
MIM:310600 - norrie disease; nd |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
X-linked disease (is_a)