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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:autosomal recessive spinocerebellar ataxia 13
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Accession:DOID:0080062 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. (DO)
Synonyms:exact_synonym: SCAR13
 broad_synonym: GRM1-RELATED CONDITION
 primary_id: OMIM:614831


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autosomal recessive spinocerebellar ataxia 13 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grm1 glutamate metabotropic receptor 1 ISO
ISS		 OMIM:614831
ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 13 | ClinVar Annotator: match by term: GRM1-related condition		 OMIM
MouseDO
ClinVar		 PMID:19146831 PMID:19924463 PMID:22448230 PMID:22558107 PMID:25741868 More... NCBI chr 1:5,058,285...5,453,170
Ensembl chr 1:5,058,292...5,453,170 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        neurodegenerative disease 4911
          hereditary ataxia 644
            cerebellar ataxia 478
              autosomal recessive cerebellar ataxia 168
                autosomal recessive spinocerebellar ataxia 13 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            movement disease 2599
              Dyskinesias 2211
                Ataxia 966
                  Spinocerebellar Ataxias 554
                    cerebellar ataxia 478
                      autosomal recessive cerebellar ataxia 168
                        autosomal recessive spinocerebellar ataxia 13 1
paths to the root