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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 6:33,517,711...33,548,015
Ensembl chr 6:33,517,769...33,548,034
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16158
    Developmental Disease 9628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8455
        genetic disease 7972
          Nervous System Heredodegenerative Disorders 1917
            motor peripheral neuropathy 522
              essential tremor 2 1
Path 2
Term Annotations click to browse term
  disease 16158
    disease of anatomical entity 15408
      nervous system disease 11007
        central nervous system disease 9126
          brain disease 8438
            movement disease 1100
              Dyskinesias 797
                Tremor 68
                  essential tremor 12
                    essential tremor 2 1
paths to the root