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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 47
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Accession:DOID:0111743 term browser browse the term
Definition:An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. (DO)
Synonyms:exact_synonym: SCA47;   spinocerebellar ataxia 47;   spinocerebellar ataxia type 47
 narrow_synonym: SPINOCEREBELLAR ATAXIA 47, EARLY-ONSET
 broad_synonym: PUM1-RELATED CONDITION
 primary_id: OMIM:617931

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cerebellar ataxia type 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pum1 pumilio RNA binding family member 1 ISO ClinVar Annotator: match by term: PUM1-related condition | ClinVar Annotator: match by term: Spinocerebellar ataxia 47 OMIM
ClinVar		 PMID:25741868 PMID:29474920 PMID:30903679 PMID:31859446 PMID:35386260 NCBI chrNW_004936474:14,243,325...14,363,461
Ensembl chrNW_004936474:14,243,296...14,363,500 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        neurodegenerative disease 4477
          hereditary ataxia 596
            cerebellar ataxia 444
              autosomal dominant cerebellar ataxia 86
                cerebellar ataxia type 47 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14116
      nervous system disease 12340
        central nervous system disease 11056
          brain disease 10378
            movement disease 2374
              Dyskinesias 2030
                Ataxia 882
                  Spinocerebellar Ataxias 518
                    cerebellar ataxia 444
                      autosomal dominant cerebellar ataxia 86
                        cerebellar ataxia type 47 1
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