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loading...| Preferred Name |
Marinesco-Sjogren syndrome |
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| Synonyms |
hereditary oligophrenic cerebello-lental degeneration |
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| Definitions |
A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0080195 |
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| database_cross_reference |
GARD:8341 MIM:248800 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. |
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| 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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| prefLabel |
Marinesco-Sjogren syndrome |
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| subClassOf |
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