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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:spastic ataxia 1
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Accession:DOID:0050772 term browser browse the term
Definition:A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13. (DO)
Synonyms:exact_synonym: SPAX1;   spastic ataxia 1, autosomal dominant
 primary_id: MESH:C566993
 alt_id: OMIM:108600


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spastic ataxia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAPBPL TAP binding protein like IAGP ClinVar Annotator: match by term: Spastic ataxia 1 ClinVar PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr12:6,451,649...6,472,006
Ensembl chr12:6,451,690...6,466,517 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 IAGP
EXP		 ClinVar Annotator: match by term: Spastic ataxia 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:11774073 PMID:22958904 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      Neurodevelopmental Disorders 13563
        intellectual disability 7166
          spastic ataxia 94
            spastic ataxia 1 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
                  hereditary ataxia 855
                    spastic ataxia 94
                      spastic ataxia 1 2
paths to the root