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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:cerebellar ataxia type 43
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Accession:DOID:0111745 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. (DO)
Synonyms:exact_synonym: SCA43;   spinocerebellar ataxia 43
 broad_synonym: MME-RELATED CONDITION
 primary_id: OMIM:617018
 xref: EFO:0009060;   ORDO:497764


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cerebellar ataxia type 43 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mme membrane metallo-endopeptidase ISO ClinVar Annotator: match by term: Spinocerebellar ataxia 43 OMIM
ClinVar		 PMID:15464186 PMID:24033266 PMID:25565308 PMID:25741868 PMID:26991897 More... NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        neurodegenerative disease 4911
          hereditary ataxia 644
            cerebellar ataxia 478
              autosomal dominant cerebellar ataxia 89
                cerebellar ataxia type 43 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            movement disease 2599
              Dyskinesias 2211
                Ataxia 966
                  Spinocerebellar Ataxias 554
                    cerebellar ataxia 478
                      autosomal dominant cerebellar ataxia 89
                        cerebellar ataxia type 43 1
paths to the root