Preferred Name |
Marinesco-Sjogren syndrome |
|
Synonyms |
hereditary oligophrenic cerebello-lental degeneration |
|
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 |
|
database_cross_reference |
OMIM:248800 GARD:8341 ORDO:559 |
|
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 |
|
has material basis in | ||
has symptom | ||
has_obo_namespace |
disease_ontology |
|
id |
DOID:0080195 |
|
in_subset | ||
label |
Marinesco-Sjogren syndrome |
|
notation |
DOID:0080195 |
|
prefLabel |
Marinesco-Sjogren syndrome |
|
subClassOf |
Create mapping