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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 type 1
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Accession:DOID:0050954 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. (DO)
Synonyms:exact_synonym: CPD1;   Menzel type OPCA;   OPCA I;   OPCA IV;   OPCA1;   OPCA4;   SCA1;   Schut Haymaker type OPCA;   cerebelloparenchymal disorder I;   olivopontocerebellar atrophy I;   olivopontocerebellar atrophy IV;   spinocerebellar ataxia 1;   spinocerebellar atrophy I
 primary_id: OMIM:164400
 xref: EFO:0003089;   GARD:4071;   MONDO:0008119;   NCI:C129982


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spinocerebellar ataxia type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn1 ataxin 1 ISO
ISS		 ClinVar Annotator: match by term: SPINOCEREBELLAR ATROPHY I | ClinVar Annotator: match by term: Spinocerebellar ataxia type 1
OMIM:164400		 OMIM
ClinVar
MouseDO		 PMID:25741868 NCBI chr17:18,737,491...19,142,360
Ensembl chr17:18,737,533...19,142,360 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        neurodegenerative disease 4893
          hereditary ataxia 636
            cerebellar ataxia 471
              autosomal dominant cerebellar ataxia 87
                spinocerebellar ataxia type 1 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            movement disease 2576
              Dyskinesias 2190
                Ataxia 957
                  Spinocerebellar Ataxias 547
                    cerebellar ataxia 471
                      autosomal dominant cerebellar ataxia 87
                        spinocerebellar ataxia type 1 1
paths to the root