Marinesco-Sjogren Syndrome
Disease ID: disease_node_20300
Connections displayed (default: 10).
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| Dbxref | GARD:8341, MIM:248800, ORDO:559 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | Garland-Moorhouse syndrome, Marinesco-Garland syndrome, Oligophrenic cerebellolenticular degeneration, hereditary oligophrenic cerebello-lental degeneration |
| Doid Label | Marinesco-Sjogren syndrome |
| Doid Description | A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. |
| Has Symptom | SYMP_0000363, SYMP_0000094 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20300 |
| Doid Id | DOID_0080195 |
| Label | Marinesco-Sjogren Syndrome |
- Outgoing r'ship
HAS_SYMPTOMto/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease) - Outgoing r'ship
HAS_SYMPTOMto/from Progressive Weakness(ID:disease_node_21078) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)