Marinesco-Sjogren syndrome Disease Ontology Browser

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Disease Ontology Browser

Marinesco-Sjogren syndrome (DOID:0080195)
Alliance: disease page
Synonyms: Garland-Moorhouse syndrome; hereditary oligophrenic cerebello-lental degeneration; Marinesco-Garland syndrome; Oligophrenic cerebellolenticular degeneration
Alt IDs: OMIM:248800, ORDO:559
Definition: A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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