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Echinobase
Summary Literature (0)
DOID:0080195 - Marinesco-Sjogren syndrome

Disease Ontology Definition:An autosomal recessive disease characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.

Synonyms: Garland-Moorhouse syndrome, Marinesco-Garland syndrome, hereditary oligophrenic cerebello-lental degeneration,

Echinobase Genes : sil1


OMIM:
MIM:248800 - marinesco-sjogren syndrome; mss

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a)