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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:A human movement disorder featuring postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. (OMIM)
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
For additional species annotation, visit the Alliance of Genome Resources.

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essential tremor 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:9673985 PMID:20096397 PMID:21186264 PMID:21739273 PMID:21820307 PMID:22194990 PMID:22336395 PMID:22402862 PMID:22499103 PMID:22742934 PMID:22980763 PMID:23041008 PMID:23606453 PMID:23607914 PMID:23757202 PMID:24022920 PMID:24232312 PMID:24843231 PMID:25741868 PMID:25891276 PMID:26467025 PMID:27708273 PMID:28492532 PMID:30311386 NCBI chr 1:106,873,580...106,971,769
Ensembl chr 1:106,896,790...106,968,885 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:7626145 PMID:8298641 PMID:8533760 PMID:9352458 PMID:9724794 PMID:9887381 PMID:10051024 PMID:10544227 PMID:11690702 PMID:11857545 PMID:16207219 PMID:17717039 PMID:18311837 PMID:19937698 PMID:22221592 PMID:22240481 PMID:22286624 PMID:22720308 PMID:24033266 PMID:24897373 PMID:24909901 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr16:74,865,516...74,944,935
Ensembl chr16:74,865,516...74,945,286 		JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:23352160 PMID:23871722 PMID:26467025 PMID:26743743 PMID:26990548 PMID:28492532 PMID:30311386 PMID:30415094 NCBI chr  X:51,149,358...53,519,271
Ensembl chr  X:51,286,737...53,519,259 		JBrowse link
G Drd3 dopamine receptor D3 ISO ClinVar Annotator: match by term: Hereditary essential tremor 1 OMIM
ClinVar		 PMID:1362221 PMID:8225313 PMID:8411064 PMID:9514583 PMID:16650084 PMID:16809426 PMID:17339592 PMID:28492532 NCBI chr11:61,819,102...61,883,223
Ensembl chr11:61,822,077...61,874,327 		JBrowse link
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:26467025 PMID:28492532 PMID:29650794 PMID:30311386 NCBI chr20:45,922,806...46,044,754
Ensembl chr20:45,922,806...46,044,738 		JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:2269438 PMID:10649495 PMID:25435509 PMID:28727984 PMID:29685539 PMID:30311386 PMID:30497978 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr13:34,829,021...35,049,172
Ensembl chr13:34,829,139...35,048,444 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:30311386 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584 		JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:30311386 NCBI chr 1:161,183,858...161,885,094
Ensembl chr 1:161,401,527...161,880,923 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                essential tremor 1 9
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            movement disease 1163
              Dyskinesias 870
                Tremor 78
                  essential tremor 17
                    essential tremor 1 9
paths to the root