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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 12
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Accession:DOID:0080060 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. (DO)
Synonyms:exact_synonym: SCAR12;   spinocerebellar ataxia with mental retardation and epilepsy
 primary_id: OMIM:614322
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive spinocerebellar ataxia 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Maf MAF bZIP transcription factor ISO ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
ClinVar PMID:24369382 PMID:28492532 PMID:32214227 NCBI chr19:48,179,826...48,200,995
Ensembl chr19:48,194,804...48,196,748
JBrowse link
G Wwox WW domain-containing oxidoreductase ISO ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614322
ClinVar Annotator: match by term: Spinocerebellar ataxia, autosomal recessive 12
ClinVar Annotator: match by term: SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY
OMIM
ClinVar
PMID:17470496 PMID:24369382 PMID:25411445 PMID:25741868 PMID:28492532 PMID:29358611 PMID:32214227 NCBI chr19:46,761,353...47,695,247 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Neurodevelopmental Disorders 5565
        intellectual disability 3387
          autosomal recessive spinocerebellar ataxia 12 2
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        central nervous system disease 10197
          brain disease 9570
            movement disease 1237
              Dyskinesias 906
                Ataxia 363
                  Spinocerebellar Ataxias 223
                    cerebellar ataxia 188
                      autosomal recessive cerebellar ataxia 68
                        autosomal recessive spinocerebellar ataxia 12 2
paths to the root