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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
ISS		 ClinVar Annotator: match by term: Autosomal recessive spinocerebellar ataxia 18
OMIM:616204		 OMIM
ClinVar
MouseDO		 PMID:23611888 PMID:24078737 PMID:25741868 PMID:27980096 PMID:28492532 NCBI chr 4:92,415,019...93,892,472
Ensembl chr 4:92,415,230...93,889,355 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        neurodegenerative disease 4895
          hereditary ataxia 635
            cerebellar ataxia 471
              autosomal recessive cerebellar ataxia 162
                autosomal recessive spinocerebellar ataxia 18 1
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        central nervous system disease 12403
          brain disease 11639
            movement disease 2576
              Dyskinesias 2190
                Ataxia 956
                  Spinocerebellar Ataxias 547
                    cerebellar ataxia 471
                      autosomal recessive cerebellar ataxia 162
                        autosomal recessive spinocerebellar ataxia 18 1
paths to the root