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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 4
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Accession:DOID:0111431 term browser browse the term
Definition:An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2. (DO)
Synonyms:exact_synonym: ETM4;   hereditary essential tremor 4
 primary_id: OMIM:614782
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
essential tremor 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus FUS RNA binding protein ISO ClinVar Annotator: match by OMIM:614782
ClinVar Annotator: match by term: Tremor, hereditary essential, 4
OMIM
ClinVar
PMID:19861302 PMID:22863194 PMID:25382069 PMID:25741868 PMID:26467025 NCBI chr 1:199,412,805...199,426,705
Ensembl chr 1:199,412,834...199,426,702
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal dominant disease 4450
                essential tremor 4 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            movement disease 1353
              Dyskinesias 1020
                Tremor 69
                  essential tremor 12
                    essential tremor 4 1
paths to the root