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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | Marinesco-Sjogren syndrome | |
| Synonyms |
hereditary oligophrenic cerebello-lental degeneration Oligophrenic cerebellolenticular degeneration Garland-Moorhouse syndrome Marinesco-Garland syndrome |
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| Definitions |
A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0080195 |
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| alternative label |
hereditary oligophrenic cerebello-lental degeneration Oligophrenic cerebellolenticular degeneration Garland-Moorhouse syndrome Marinesco-Garland syndrome
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|
| database_cross_reference |
OMIM:248800 GARD:8341 ORDO:559
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|
| definition |
A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
|
|
| has exact synonym |
hereditary oligophrenic cerebello-lental degeneration Oligophrenic cerebellolenticular degeneration Garland-Moorhouse syndrome Marinesco-Garland syndrome
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| has material basis in | ||
| has symptom | ||
| has_obo_namespace |
disease_ontology
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|
| id |
DOID:0080195
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|
| in_subset | ||
| label |
Marinesco-Sjogren syndrome
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|
| notation |
DOID:0080195
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|
| note |
A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
|
|
| preferred label |
Marinesco-Sjogren syndrome
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|
| prefLabel |
Marinesco-Sjogren syndrome
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|
| subClassOf |
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