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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 ClinVar Annotator: match by term: Tremor, hereditary essential, 5 OMIM
ClinVar		 PMID:25741868 PMID:26188006 PMID:28492532 NCBI chrNW_004936498:7,145,510...7,868,792
Ensembl chrNW_004936498:7,145,483...7,658,860 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14499
    Developmental Disease 12616
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11821
        genetic disease 11504
          monogenic disease 9655
            autosomal genetic disease 8942
              autosomal dominant disease 5891
                essential tremor 5 1
Path 2
Term Annotations click to browse term
  disease 14499
    disease of anatomical entity 14148
      nervous system disease 12368
        central nervous system disease 11086
          brain disease 10411
            movement disease 2380
              Dyskinesias 2036
                Tremor 76
                  essential tremor 21
                    essential tremor 5 1
paths to the root