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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 the TENM4 gene on chromosome 11q14.1. (DO)
Synonyms:exact_synonym: ETM5;   hereditary essential tremor 5
 primary_id: OMIM:616736


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Tremor, hereditary essential, 5		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:26188006 PMID:28492532 NCBI chr 1:149,895,097...151,263,315
Ensembl chr 1:150,780,381...151,259,144 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal dominant disease 6311
                essential tremor 5 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Dyskinesias 2197
                Tremor 96
                  essential tremor 31
                    essential tremor 5 1
paths to the root