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 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
Advanced Search (OLGA)

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:spastic ataxia 5
go back to main search page
Accession:DOID:0050944 term browser browse the term
Definition:A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11. (DO)
Synonyms:exact_synonym: SPAX5;   early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome;   spastic ataxia 5, autosomal recessive
 xref: MIM:614487;   MONDO:0013776;   ORDO:313772


show annotations for term's descendants           Sort by:
spastic ataxia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AFG3L2 AFG3 like matrix AAA peptidase subunit 2 ISO ClinVar Annotator: match by term: Spastic ataxia 5 OMIM
ClinVar		 PMID:22022284 PMID:25401298 PMID:25741868 PMID:26454370 PMID:26467025 More... NCBI chr 7:77,749,029...77,787,466
Ensembl chr 7:77,737,808...77,787,472 		JBrowse link
G TUBB6 tubulin beta 6 class V ISO ClinVar Annotator: match by term: Spastic ataxia 5 ClinVar PMID:25741868 PMID:26467025 PMID:27165006 PMID:28492532 NCBI chr 7:77,728,876...77,746,759
Ensembl chr 7:77,728,180...77,749,270 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15673
    Developmental Disease 13615
      Neurodevelopmental Disorders 6901
        intellectual disability 4364
          spastic ataxia 84
            spastic ataxia 5 2
Path 2
Term Annotations click to browse term
  disease 15673
    disease of anatomical entity 15313
      nervous system disease 13402
        central nervous system disease 12030
          brain disease 11302
            disease of mental health 8173
              developmental disorder of mental health 5593
                specific developmental disorder 4561
                  intellectual disability 4364
                    spastic ataxia 84
                      spastic ataxia 5 2
paths to the root