FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Marinesco-Sjogren syndrome ID (Ontology) DOID:0080195 (Human Disease)
Definition A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development.
Also Known As "Garland-Moorhouse syndrome" ; "hereditary oligophrenic cerebello-lental degeneration" ; "Marinesco-Garland syndrome" (for all, see Synonyms field below)
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 Genes
 Marinesco-Sjogren syndrome       1
 for disease ribbon | Marinesco-Sjogren syndrome       1
 model of | Marinesco-Sjogren syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 Marinesco-Sjogren syndrome  1 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "Garland-Moorhouse syndrome" EXACT
    "hereditary oligophrenic cerebello-lental degeneration" EXACT
    "Marinesco-Garland syndrome" EXACT
    "Oligophrenic cerebellolenticular degeneration" EXACT
Secondary IDs
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GARD:8341
MIM:248800
ORDO:559