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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 1
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Accession:DOID:0111428 term browser browse the term
Definition:An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31. (DO)
Synonyms:exact_synonym: ETM1;   FET1;   Hereditary Essential Tremor, 1;   familial essential tremor 1
 narrow_synonym: HAND TREMOR
 primary_id: MESH:C536545
 alt_id: OMIM:190300


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essential tremor 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Drd3 dopamine receptor D3 susceptibility ISO ClinVar Annotator: match by term: Tremor, hereditary essential, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:1362221 PMID:8225313 PMID:8411064 PMID:9514583 PMID:16650084 More... NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal dominant disease 6235
                essential tremor 1 3
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            movement disease 2576
              Dyskinesias 2190
                Tremor 96
                  essential tremor 31
                    essential tremor 1 3
paths to the root