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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 23
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Accession:DOID:0111613 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in TDP2 on chromosome 6p22.3. (DO)
Synonyms:exact_synonym: SCAR23;   autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
 primary_id: OMIM:616949
 xref: ORDO:404493
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal recessive spinocerebellar ataxia 23 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp2 tyrosyl-DNA phosphodiesterase 2 ISO ClinVar Annotator: match by term: Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to TUD deficiency OMIM
ClinVar
PMID:24658003 PMID:25741868 PMID:30109272 NCBI chr17:40,228,943...40,240,337
Ensembl chr17:40,228,947...40,240,313
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        neurodegenerative disease 3902
          hereditary ataxia 405
            cerebellar ataxia 280
              autosomal recessive cerebellar ataxia 157
                autosomal recessive spinocerebellar ataxia 23 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          brain disease 10618
            movement disease 1737
              Dyskinesias 1394
                Ataxia 546
                  Spinocerebellar Ataxias 355
                    cerebellar ataxia 280
                      autosomal recessive cerebellar ataxia 157
                        autosomal recessive spinocerebellar ataxia 23 1
paths to the root