Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:Marinesco-Sjogren syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      musculoskeletal system disease 4297
        muscular disease 968
          Marinesco-Sjogren syndrome 1
Path 2
Term Annotations click to browse term
  disease 15639
    disease of anatomical entity 14969
      nervous system disease 10242
        central nervous system disease 8118
          brain disease 7587
            movement disease 1005
              Dyskinesias 713
                Ataxia 302
                  Spinocerebellar Ataxias 198
                    cerebellar ataxia 169
                      Marinesco-Sjogren syndrome 1
paths to the root


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