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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:spinocerebellar ataxia with axonal neuropathy 1
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Accession:DOID:0090115 term browser browse the term
Definition:A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. (DO)
Synonyms:exact_synonym: SCAN1;   autosomal recessive spinocerebellar ataxia with axonal neuropathy 1;   spinocerebellar ataxia type 1 with axonal neuropathy
 primary_id: MESH:C537313
 alt_id: OMIM:607250
 xref: GARD:10000;   ICD10CM:G60.2;   ORDO:94124

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spinocerebellar ataxia with axonal neuropathy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tdp1 tyrosyl-DNA phosphodiesterase 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 OMIM
ClinVar		 PMID:12244316 PMID:12470949 PMID:15111055 PMID:15920477 PMID:17948061 More... NCBI chrNW_004936488:17,237,002...17,311,325
Ensembl chrNW_004936488:17,236,703...17,311,310 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        peripheral nervous system disease 3886
          neuropathy 3704
            axonal neuropathy 26
              Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 4
                spinocerebellar ataxia with axonal neuropathy 1 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      nervous system disease 12341
        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 with Axonal Neuropathy 4
                          spinocerebellar ataxia with axonal neuropathy 1 1
paths to the root