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Summary Literature (0)
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, Marinesco-Garland syndrome, Oligophrenic cerebellolenticular degeneration, hereditary oligophrenic cerebello-lental degeneration

In OMIM:
OMIM:248800 - MARINESCO-SJOGREN SYNDROME; MSS

In Mondo Disease Ontology:
MONDO:0009567 - Marinesco-Sjogren syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : inpp5k, sil1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal recessive disease (is_a), syndrome (is_a)