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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.



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Marinesco-Sjogren syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sil1 SIL1 nucleotide exchange factor ISS
ISO
OMIM:248800
ClinVar Annotator: match by term: Marinesco-Sjögren syndrome
MouseDO
ClinVar
PMID:10665502 PMID:12692552 PMID:16282977 PMID:16282978 PMID:17026626 More... NCBI chr18:26,872,423...27,104,365
Ensembl chr18:26,872,429...27,104,332
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Marinesco-Sjogren syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        central nervous system disease 11254
          brain disease 10539
            movement disease 1690
              Dyskinesias 1344
                Ataxia 536
                  Spinocerebellar Ataxias 350
                    cerebellar ataxia 275
                      autosomal recessive cerebellar ataxia 156
                        Marinesco-Sjogren syndrome 1
paths to the root