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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, Marinesco-Garland syndrome, Oligophrenic cerebellolenticular degeneration, hereditary oligophrenic cerebello-lental degeneration,
Xenbase Genes
:
inpp5k,
sil1
| MONDO:0009567 - Marinesco-Sjogren syndrome |
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),
syndrome (is_a)