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Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
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| Id | http://purl.obolibrary.org/obo/DOID_0080195
http://purl.obolibrary.org/obo/DOID_0080195
|
|---|---|
| Preferred Name | Marinesco-Sjogren syndrome |
| Definitions |
A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
|
| Synonyms |
hereditary oligophrenic cerebello-lental degeneration
Oligophrenic cerebellolenticular degeneration
Garland-Moorhouse syndrome
Marinesco-Garland syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. |
|---|---|
| alternative label |
hereditary oligophrenic cerebello-lental degeneration
Oligophrenic cerebellolenticular degeneration
Garland-Moorhouse syndrome
Marinesco-Garland syndrome
|
| preferred label |
Marinesco-Sjogren syndrome
|
| label |
Marinesco-Sjogren syndrome
|
| prefLabel |
Marinesco-Sjogren syndrome
|
| database_cross_reference |
GARD:8341
MIM:248800
ORDO:559
|
| notation |
DOID:0080195
|
| in_subset | |
| id |
DOID:0080195
|
| note |
A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
|
| has phenotype | |
| has symptom | |
| has material basis in | |
| has_obo_namespace |
disease_ontology
|
| subClassOf | |
| type | |
| has exact synonym |
hereditary oligophrenic cerebello-lental degeneration
Oligophrenic cerebellolenticular degeneration
Garland-Moorhouse syndrome
Marinesco-Garland syndrome
|
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