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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 18
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Accession:DOID:0080042 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22. (DO)
Synonyms:exact_synonym: SCAR18
 primary_id: OMIM:616204

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autosomal recessive spinocerebellar ataxia 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grid2 glutamate ionotropic receptor delta type subunit 2 ISO ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18 OMIM
ClinVar		 PMID:23611888 PMID:24078737 PMID:25741868 PMID:27980096 PMID:28492532 NCBI chrNW_004936687:20,126...1,421,075
Ensembl chrNW_004936687:549,947...1,421,133 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        neurodegenerative disease 4477
          hereditary ataxia 596
            cerebellar ataxia 444
              autosomal recessive cerebellar ataxia 150
                autosomal recessive spinocerebellar ataxia 18 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            movement disease 2374
              Dyskinesias 2030
                Ataxia 882
                  Spinocerebellar Ataxias 518
                    cerebellar ataxia 444
                      autosomal recessive cerebellar ataxia 150
                        autosomal recessive spinocerebellar ataxia 18 1
paths to the root