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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:Fasciculation
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Accession:DOID:9001745 term browser browse the term
Definition:Involuntary contraction of the muscle fibers innervated by a motor unit. Fasciculations may be visualized as a muscle twitch or dimpling under the skin, but usually do not generate sufficient force to move a limb. They may represent a benign condition or occur as a manifestation of MOTOR NEURON DISEASE or PERIPHERAL NERVOUS SYSTEM DISEASES. (Adams et al., Principles of Neurology, 6th ed, p1294)
Synonyms:exact_synonym: Benign Fasciculation;   Fasciculations;   Muscular Fasciculation;   Muscular Fasciculations;   Skeletal Muscle Fasciculation;   Skeletal Muscle Fasciculations;   Tongue Fasciculation;   benign fasciculations;   tongue fasciculations
 primary_id: MESH:D005207


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Fasciculation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase EXP CTD Direct Evidence: marker/mechanism CTD PMID:6465587 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462 		JBrowse link
G PMP22 peripheral myelin protein 22 IAGP ClinVar Annotator: match by term: Tongue fasciculations ClinVar PMID:25741868 NCBI chr17:15,229,779...15,265,326
Ensembl chr17:15,229,773...15,272,292 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Pathological Conditions, Signs and Symptoms 21466
      Signs and Symptoms 16320
        Neurologic Manifestations 15387
          Neuromuscular Manifestations 1055
            Fasciculation 2
              Ataxia with Fasciculations 0
paths to the root