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loading...| Preferred Name |
Norrie disease |
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| Synonyms |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0060844 |
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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. |
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| label |
Norrie disease |
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| prefixIRI |
DOID:0060844 |
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| prefLabel |
Norrie disease |
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| subClassOf |
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