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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 chr 5:142,836,933...142,954,331
Ensembl chr 5:142,837,127...142,954,039 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        neurodegenerative disease 4902
          hereditary ataxia 640
            cerebellar ataxia 474
              autosomal dominant cerebellar ataxia 87
                cerebellar ataxia type 47 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            movement disease 2583
              Dyskinesias 2196
                Ataxia 962
                  Spinocerebellar Ataxias 550
                    cerebellar ataxia 474
                      autosomal dominant cerebellar ataxia 87
                        cerebellar ataxia type 47 1
paths to the root