{"_id":"MONDO:0018556","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"42399-41-7","chemical_name":"Diltiazem","direct_evidence":"marker/mechanism","mesh_chemical_id":"D004110","pubmed":"1318359","source":"CTD"},"mesh":"D015624"},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0060032","DOID:438","DOID:4","DOID:574","DOID:0060033","DOID:439","DOID:17","DOID:870","DOID:863","DOID:440","DOID:417","DOID:7","DOID:2914"],"children":[],"def":"\"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.\" [url:http\\://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome]","descendants":[],"doid":"DOID:0050214","name":"Lambert-Eaton myasthenic syndrome","parents":["DOID:0060032","DOID:0060033","DOID:439"],"synonyms":{"exact":["Eaton-Lambert syndrome","Lambert-Eaton syndrome","LEMS"]},"xrefs":{"icd10":"G70.80","icd9":"358.3","mesh":"D015624","ncit":"C3155","snomedct_us_2025_09_01":"230688006","umls_cui":"C0022972"}},"hpo":{"disease_name":"Lambert-Eaton myasthenic syndrome","orphanet":"43393","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000217","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001315","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003403","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0009073","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0012332","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0030000","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0030209","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000315","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000802","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002019","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002483","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0030357","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:5000027","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000966","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001097","orphanet_refs":"orphanet:43393"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004926","orphanet_refs":"orphanet:43393"}]},"mondo":{"ancestors":["MONDO:0021073","MONDO:0700096","MONDO:0000001","MONDO:0005071","MONDO:0045054","MONDO:0045024","MONDO:0018215","MONDO:7770006","MONDO:0002254","MONDO:7770008"],"definition":"Lambert-Eaton myasthenic syndrome (LEMS) is an autoimmune, presynaptic disorder of neuromuscular transmission characterized by fluctuating muscle weakness and autonomic dysfunction frequently associated with small-cell lung cancer (SCLC). [Orphanet:43393]","label":"Lambert-Eaton myasthenic syndrome","mondo":"MONDO:0018556","parents":["MONDO:0018215"],"synonym":{"exact":["Eaton Lambert syndrome","Eaton-Lambert syndrome","Lambert Eaton myasthenic syndrome","Lambert Eaton syndrome","Lambert-Eaton syndrome","myasthenic syndrome of Lambert-Eaton","myasthenic-myopathic syndrome of Lambert-Eaton"]},"xrefs":{"doid":["DOID:0050214"],"gard":["0006851"],"icd11":["foundation:796417193"],"icd9":["358.3"],"meddra":["10067685"],"medgen":["6005"],"mesh":["D015624"],"ncit":["C3155"],"nord":["1346"],"orphanet":["43393"],"sctid":["56989000"],"umls":["C0022972"]}},"original_id":"orphanet:43393","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10":{"non-preferred":"G73.1"},"icd10am":{"non-preferred":"G73.1"},"icd10cm":{"non-preferred":"G70.80"},"icd9cm":{"non-preferred":"358.3"},"mesh":{"non-preferred":"D015624","preferred":"D015624"},"nci":{"preferred":"C3155"},"snomed":{"non-preferred":["56989000","230688006"],"preferred":["56989000","230688006"]},"umls":"C0022972"}}