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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 32
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Accession:DOID:0070413 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26. (DO)
Synonyms:exact_synonym: SCAR32
 primary_id: MIM:619862
 alt_id: DOID:9003435


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autosomal recessive spinocerebellar ataxia 32 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRDX3 peroxiredoxin 3 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 32 OMIM
ClinVar		 PMID:25741868 PMID:33889951 PMID:35766882 PMID:35792670 NCBI chr28:29,395,593...29,403,745
Ensembl chr28:29,395,581...29,403,745 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15673
    disease of anatomical entity 15313
      nervous system disease 13402
        neurodegenerative disease 4818
          hereditary ataxia 627
            cerebellar ataxia 484
              autosomal recessive cerebellar ataxia 170
                autosomal recessive spinocerebellar ataxia 32 1
Path 2
Term Annotations click to browse term
  disease 15673
    disease of anatomical entity 15313
      nervous system disease 13402
        central nervous system disease 12030
          brain disease 11302
            movement disease 2547
              Dyskinesias 2163
                Ataxia 924
                  Spinocerebellar Ataxias 560
                    cerebellar ataxia 484
                      autosomal recessive cerebellar ataxia 170
                        autosomal recessive spinocerebellar ataxia 32 1
paths to the root