Norrie disease (DOID:0060844)
Alliance: disease page
Synonyms: atrophia bulborum hereditaria; Episkopi blindness; Norrie-Warburg disease
Alt IDs: OMIM:310600, MESH:C537849, NCI:C118634, ORDO:649, UMLS_CUI:C0266526
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.