OBO ID: DOID:0060844 |
Term Name: | Norrie disease | Search Ontology: | |
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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) | ||
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Ontology: | Human Disease ( DOID:0060844 ) |
OTHER Norrie disease PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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