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Cell Cycle Ontology
Last uploaded:
June 26, 2014
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Id | http://purl.obolibrary.org/obo/OMIM_310600
http://purl.obolibrary.org/obo/OMIM_310600
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Preferred Name | Norrie disease |
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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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
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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label |
Norrie disease
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prefLabel |
Norrie disease
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notation |
OMIM:310600
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id |
OMIM:310600
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has_obo_namespace |
cell_cycle_ontology
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subClassOf | |
type | |
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