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ONTOLOGY REPORT - ANNOTATIONS


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
 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 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        muscular disease 957
          Marinesco-Sjogren syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          brain disease 7561
            movement disease 1000
              Dyskinesias 710
                Ataxia 300
                  Spinocerebellar Ataxias 198
                    cerebellar ataxia 169
                      Marinesco-Sjogren syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.