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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:essential tremor 2
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Accession:DOID:0111429 term browser browse the term
Definition:An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22. (DO)
Synonyms:exact_synonym: ETM2;   hereditary essential tremor 2
 primary_id: MESH:C536546
 alt_id: OMIM:602134
For additional species annotation, visit the Alliance of Genome Resources.



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essential tremor 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hs1bp3 HCLS1 binding protein 3 ISO OMIM NCBI chr 6:31,192,519...31,222,835
Ensembl chr 6:31,192,568...31,222,835
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          Nervous System Heredodegenerative Disorders 2365
            motor peripheral neuropathy 673
              essential tremor 2 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        central nervous system disease 11253
          brain disease 10538
            movement disease 1690
              Dyskinesias 1344
                Tremor 95
                  essential tremor 32
                    essential tremor 2 1
paths to the root