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Human Disease

Norrie disease

Term ID
DOID:0060844
Synonyms
  • atrophia bulborum hereditaria
  • Episkopi blindness
  • Norrie-Warburg disease
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. (3)
References
Ontology
Human Disease   ( DOID:0060844 )
Relationships
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Genes Involved
Zebrafish Models