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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 5
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Accession:DOID:0111432 term browser browse the term
Definition:An essential tremor that has_material_basis_in heterozygous mutation in TENM4 on chromosome 11q14.1. (DO)
Synonyms:exact_synonym: ETM5;   hereditary essential tremor 5
 primary_id: OMIM:616736
For additional species annotation, visit the Alliance of Genome Resources.



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essential tremor 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Tremor, hereditary essential, 5 ClinVar
OMIM
PMID:25741868 PMID:26188006 NCBI chr 1:149,895,097...151,263,315
Ensembl chr 1:150,780,381...151,259,144
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          monogenic disease 7190
            autosomal genetic disease 6337
              autosomal dominant disease 4490
                essential tremor 5 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            movement disease 1404
              Dyskinesias 1073
                Tremor 92
                  essential tremor 30
                    essential tremor 5 1
paths to the root