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ONTOLOGY REPORT - ANNOTATIONS


Term:Marinesco-Sjogren syndrome
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Accession:DOID:0080195 term browser browse the term
Definition:A syndrome 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);   hereditary oligophrenic cerebello-lental degeneration;   oligophrenic cerebellolenticular degeneration
 primary_id: MESH:C535913
 xref: GARD:8341;   ORDO:559
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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
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      Marinesco-Sjogren syndrome 1
Path 2
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  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            movement disease 1068
              Dyskinesias 778
                Ataxia 333
                  Spinocerebellar Ataxias 221
                    cerebellar ataxia 186
                      autosomal recessive cerebellar ataxia 68
                        Marinesco-Sjogren syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.