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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 31
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Accession:DOID:0050980 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene. (DO)
Synonyms:exact_synonym: SCA31;   spinocerebellar ataxia 31;   spinocerebellar ataxia, 16q22-linked
 xref: MESH:C566146;   MIM:117210;   MONDO:0007296;   NCI:C176901;   ORDO:217012


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spinocerebellar ataxia type 31 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bean1 brain expressed, associated with NEDD4, 1 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 31
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:19878914 NCBI chr19:739,551...786,395
Ensembl chr19:739,551...787,537 		JBrowse link
G Plekhg4 pleckstrin homology and RhoGEF domain containing G4 ISO ClinVar Annotator: match by term: Spinocerebellar ataxia type 31 ClinVar PMID:16001362 PMID:16614795 PMID:16780885 NCBI chr19:33,251,788...33,266,490
Ensembl chr19:33,249,706...33,266,357 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        neurodegenerative disease 5005
          hereditary ataxia 629
            cerebellar ataxia 480
              autosomal dominant cerebellar ataxia 90
                spinocerebellar ataxia type 31 2
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            movement disease 2626
              Dyskinesias 2228
                Ataxia 952
                  Spinocerebellar Ataxias 555
                    cerebellar ataxia 480
                      autosomal dominant cerebellar ataxia 90
                        spinocerebellar ataxia type 31 2
paths to the root