Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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:26188006 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 5 1
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 5 1
paths to the root