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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:Lambert-Eaton myasthenic syndrome
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Accession:DOID:0050214 term browser browse the term
Definition:A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. (DO)
Synonyms:exact_synonym: Eaton Lambert Syndrome;   Eaton-Lambert Myasthenic-Myopathic Syndrome;   Eaton-Lambert Myopathic-Myasthenic Syndromes;   LEMS;   myasthenic-myopathic syndrome of Eaton Lambert
 primary_id: MESH:D015624
 xref: ICD10CM:G70.80;   ICD9CM:358.3;   NCI:C3155

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Lambert-Eaton myasthenic syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO MouseDO NCBI chrNW_004624901:707,322...932,658
Ensembl chrNW_004624901:708,234...932,643 		JBrowse link
G Cacna1b calcium voltage-gated channel subunit alpha1 B ISO RGD PMID:16289869 RGD:1626312 NCBI chrNW_004624760:78,754...257,901
Ensembl chrNW_004624760:81,236...257,787 		JBrowse link
G Chrm1 cholinergic receptor muscarinic 1 ISO RGD PMID:17764462 RGD:5133415 NCBI chrNW_004624926:1,326,851...1,335,477
Ensembl chrNW_004624926:1,326,866...1,330,805 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14165
    disease of anatomical entity 13877
      musculoskeletal system disease 7394
        autoimmune disease of musculoskeletal system 841
          Lambert-Eaton myasthenic syndrome 3
Path 2
Term Annotations click to browse term
  disease 14165
    disease of anatomical entity 13877
      Immune & Inflammatory Diseases 4767
        immune system disease 4151
          primary immunodeficiency disease 3596
            autoimmune disease 1888
              autoimmune disease of the nervous system 551
                autoimmune disease of peripheral nervous system 50
                  Lambert-Eaton myasthenic syndrome 3
paths to the root