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DOID:0080195 - Marinesco-Sjogren syndrome
Disease Ontology Definition:A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
Synonyms: Garland-Moorhouse syndrome, hereditary oligophrenic cerebello-lental degeneration, Marinesco-Garland syndrome, Oligophrenic cerebellolenticular degeneration
Echinobase Genes
:
sil1
| MIM:248800 - marinesco-sjogren syndrome; mss |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a),
syndrome (is_a)