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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 channel, voltage-dependent, P/Q type, alpha 1A subunit IAGP MouseDO NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875 		JBrowse link
G Cacna1b calcium channel, voltage-dependent, N type, alpha 1B subunit ISO RGD PMID:16289869 RGD:1626312 NCBI chr 2:24,493,872...24,653,210
Ensembl chr 2:24,493,899...24,653,164 		JBrowse link
G Chrm1 cholinergic receptor, muscarinic 1, CNS ISO RGD PMID:17764462 RGD:5133415 NCBI chr19:8,641,369...8,660,970
Ensembl chr19:8,641,153...8,660,951 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16193
    disease of anatomical entity 15759
      musculoskeletal system disease 8127
        autoimmune disease of musculoskeletal system 934
          Lambert-Eaton myasthenic syndrome 3
Path 2
Term Annotations click to browse term
  disease 16193
    disease of anatomical entity 15759
      Immune & Inflammatory Diseases 5341
        immune system disease 4616
          primary immunodeficiency disease 4015
            autoimmune disease 2107
              autoimmune disease of the nervous system 607
                autoimmune disease of peripheral nervous system 57
                  Lambert-Eaton myasthenic syndrome 3
paths to the root