|
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
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)