Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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:autosomal recessive spinocerebellar ataxia 7
go back to main search page
Accession:DOID:0080059 term browser browse the term
Definition:An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. (DO)
Synonyms:exact_synonym: SCAR7;   childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
 broad_synonym: TPP1-RELATED CONDITION
 primary_id: MESH:C563753
 alt_id: OMIM:609270
 xref: GARD:12232



show annotations for term's descendants           Sort by:

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        neurodegenerative disease 4870
          hereditary ataxia 636
            cerebellar ataxia 471
              autosomal recessive cerebellar ataxia 163
                autosomal recessive spinocerebellar ataxia 7 1
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        central nervous system disease 12366
          brain disease 11603
            movement disease 2573
              Dyskinesias 2188
                Ataxia 956
                  Spinocerebellar Ataxias 547
                    cerebellar ataxia 471
                      autosomal recessive cerebellar ataxia 163
                        autosomal recessive spinocerebellar ataxia 7 1
paths to the root