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:hereditary spastic paraplegia 46
go back to main search page
Accession:DOID:0110798 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p. (DO)
Synonyms:exact_synonym: SPG46;   autosomal recessive spastic paraplegia 46;   autosomal recessive spastic paraplegia type 46
 primary_id: OMIM:614409
 xref: ORDO:320391


show annotations for term's descendants           Sort by:
hereditary spastic paraplegia 46 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eef1a2 eukaryotic translation elongation factor 1 alpha 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 46 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:180,783,551...180,798,808
Ensembl chr 2:180,789,446...180,798,807 		JBrowse link
G Gba2 glucosidase beta 2 ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 46
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:20593214 PMID:23332916 PMID:23332917 PMID:24252062 More... NCBI chr 4:43,566,928...43,578,893
Ensembl chr 4:43,566,928...43,578,873 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          paraplegia 567
            hereditary spastic paraplegia 448
              hereditary spastic paraplegia 46 2
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          neurodegenerative disease 4811
            Nervous System Heredodegenerative Disorders 3288
              motor peripheral neuropathy 1203
                hereditary spastic paraplegia 448
                  hereditary spastic paraplegia 46 2
paths to the root