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| Term | Norrie disease | ID (Ontology) | DOID:0060844 (Human 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. | ||
| Also Known As | "atrophia bulborum hereditaria" ; "Episkopi blindness" ; "Norrie-Warburg disease" | ||
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X-linked monogenic disease |__X-linked recessive disease__ disease | |__syndrome____________________| Norrie disease |
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| Is a |
X-linked recessive disease syndrome |
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GARD:7224 MESH:C537849 MIM:310600 NCI:C118634 ORDO:649 SNOMEDCT_US_2023_03_01:15228007 UMLS_CUI:C0266526 |
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