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Term:Marinesco-Sjogren syndrome
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Accession:DOID:0080195 term browser browse the term
Definition:An autosomal recessive disease characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. (DO)
Synonyms:exact_synonym: Garland-Moorhouse syndrome;   Marinesco Sjogren Garland syndrome;   Marinesco Sjogren syndrome hypergonadotrophic hypogonadism;   Marinesco Sjogren syndrome myopathy;   Marinesco Sjögren syndrome;   Marinesco-Garland syndrome;   Marinesco-Sjogren-like Syndrome (MSLS);   Oligophrenic cerebellolenticular degeneration;   hereditary oligophrenic cerebello-lental degeneration
 primary_id: MESH:C535913
 alt_id: RDO:0001281
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Marinesco-Sjogren syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sil1 SIL1 nucleotide exchange factor JBrowse link 18 28,067,476 28,302,008 RGD:13592920

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Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Neurodevelopmental Disorders 2745
        intellectual disability 1146
          Marinesco-Sjogren syndrome 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            movement disease 989
              Dyskinesias 702
                Ataxia 300
                  Spinocerebellar Ataxias 200
                    cerebellar ataxia 173
                      Marinesco-Sjogren syndrome 1
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