loading...| Preferred Name |
Norrie disease |
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| Synonyms |
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| Definitions |
(ND): Recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_310600 |
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| definition |
(ND): Recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure. |
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| has_obo_namespace |
cell_cycle_ontology |
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| id |
OMIM:310600 |
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| label |
Norrie disease |
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| notation |
OMIM:310600 |
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| prefLabel |
Norrie disease |
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