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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
 xref: MIM:616736;   MONDO:0014756


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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 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 19099
    Developmental Disease 14598
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13610
        genetic disease 13271
          monogenic disease 10820
            autosomal genetic disease 10300
              autosomal dominant disease 6645
                essential tremor 5 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            movement disease 2626
              Dyskinesias 2228
                Tremor 97
                  essential tremor 32
                    essential tremor 5 1
paths to the root