Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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


show annotations for term's descendants           Sort by:
cerebellar ataxia type 47 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC126805680 BRD4-independent group 4 enhancer GRCh37_chr1:31424624-31425823 IAGP ClinVar Annotator: match by term: Spinocerebellar ataxia 47
ClinVar Annotator: match by term: PUM1-related condition		 ClinVar PMID:25741868 NCBI chr 1:30,951,777...30,952,976 JBrowse link
G PUM1 pumilio RNA binding family member 1 IAGP 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 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        neurodegenerative disease 6566
          hereditary ataxia 855
            cerebellar ataxia 654
              autosomal dominant cerebellar ataxia 145
                cerebellar ataxia type 47 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        central nervous system disease 23468
          brain disease 21902
            movement disease 3274
              Dyskinesias 2681
                Ataxia 1296
                  Spinocerebellar Ataxias 742
                    cerebellar ataxia 654
                      autosomal dominant cerebellar ataxia 145
                        cerebellar ataxia type 47 2
paths to the root