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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, hereditary oligophrenic cerebello-lental degeneration, Marinesco-Garland syndrome, Oligophrenic cerebellolenticular degeneration

Xenbase Genes : inpp5k, sil1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009567 - nail of pedal digit

MIM:
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)