{"_id":"MONDO:0018940","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"54910-89-3","chemical_name":"Fluoxetine","direct_evidence":"therapeutic","mesh_chemical_id":"D005473","pubmed":"12771277","source":"CTD"},"mesh":"D020294","pathway_related_to_disease":[{"inference_gene_symbol":"GFPT1","kegg_pathway_id":"hsa00250","pathway_name":"Alanine, aspartate and glutamate metabolism","source":"CTD"},{"inference_gene_symbol":["ALG14","ALG2","DPAGT1"],"kegg_pathway_id":"hsa00510","pathway_name":"N-Glycan biosynthesis","source":"CTD"},{"inference_gene_symbol":"GFPT1","kegg_pathway_id":"hsa00520","pathway_name":"Amino sugar and nucleotide sugar metabolism","source":"CTD"},{"inference_gene_symbol":["ALG14","ALG2","DPAGT1","GFPT1"],"kegg_pathway_id":"hsa01100","pathway_name":"Metabolic pathways","source":"CTD"},{"inference_gene_symbol":["CHRNB1","CHRND","CHRNG"],"kegg_pathway_id":"hsa04080","pathway_name":"Neuroactive ligand-receptor interaction","source":"CTD"},{"inference_gene_symbol":"AGRN","kegg_pathway_id":"hsa04512","pathway_name":"ECM-receptor interaction","source":"CTD"},{"inference_gene_symbol":["SLC18A3","SNAP25"],"kegg_pathway_id":"hsa04721","pathway_name":"Synaptic vesicle cycle","source":"CTD"},{"inference_gene_symbol":["SLC18A3","SLC5A7"],"kegg_pathway_id":"hsa04725","pathway_name":"Cholinergic synapse","source":"CTD"},{"inference_gene_symbol":"SNAP25","kegg_pathway_id":"hsa04911","pathway_name":"Insulin secretion","source":"CTD"},{"inference_gene_symbol":"GFPT1","kegg_pathway_id":"hsa04931","pathway_name":"Insulin resistance","source":"CTD"},{"inference_gene_symbol":"COL13A1","kegg_pathway_id":"hsa04974","pathway_name":"Protein digestion and absorption","source":"CTD"},{"inference_gene_symbol":"SLC5A7","kegg_pathway_id":"hsa05231","pathway_name":"Choline metabolism in cancer","source":"CTD"},{"inference_gene_symbol":["ALG14","ALG2","DPAGT1"],"kegg_pathway_id":"hsa_M00055","pathway_name":"N-glycan precursor biosynthesis","source":"CTD"},{"inference_gene_symbol":["SLC18A3","SLC5A7","SNAP25"],"pathway_name":"Neurotransmitter Release Cycle","react_pathway_id":"R-HSA-112310","source":"CTD"},{"inference_gene_symbol":["CHRND","CHRNG"],"pathway_name":"Neurotransmitter Receptor Binding And Downstream Transmission In The  Postsynaptic Cell","react_pathway_id":"R-HSA-112314","source":"CTD"},{"inference_gene_symbol":["CHRND","CHRNG","SLC18A3","SLC5A7","SNAP25"],"pathway_name":"Transmission across Chemical Synapses","react_pathway_id":"R-HSA-112315","source":"CTD"},{"inference_gene_symbol":["CHRND","CHRNG","SLC18A3","SLC5A7","SNAP25","SYT2"],"pathway_name":"Neuronal System","react_pathway_id":"R-HSA-112316","source":"CTD"},{"inference_gene_symbol":["AGRN","SCN4A"],"pathway_name":"Developmental Biology","react_pathway_id":"R-HSA-1266738","source":"CTD"},{"inference_gene_symbol":["AGRN","SNAP25"],"pathway_name":"Metabolism","react_pathway_id":"R-HSA-1430728","source":"CTD"},{"inference_gene_symbol":"COL13A1","pathway_name":"Collagen degradation","react_pathway_id":"R-HSA-1442490","source":"CTD"},{"inference_gene_symbol":"COL13A1","pathway_name":"Degradation of the extracellular matrix","react_pathway_id":"R-HSA-1474228","source":"CTD"},{"inference_gene_symbol":["AGRN","COL13A1","LRP4"],"pathway_name":"Extracellular matrix organization","react_pathway_id":"R-HSA-1474244","source":"CTD"},{"inference_gene_symbol":"COL13A1","pathway_name":"Collagen formation","react_pathway_id":"R-HSA-1474290","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Signal Transduction","react_pathway_id":"R-HSA-162582","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Glycosaminoglycan metabolism","react_pathway_id":"R-HSA-1630316","source":"CTD"},{"inference_gene_symbol":"SNAP25","pathway_name":"Integration of energy metabolism","react_pathway_id":"R-HSA-163685","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Heparan sulfate/heparin (HS-GAG) metabolism","react_pathway_id":"R-HSA-1638091","source":"CTD"},{"inference_gene_symbol":["AGRN","SNAP25","SYT2"],"pathway_name":"Disease","react_pathway_id":"R-HSA-1643685","source":"CTD"},{"inference_gene_symbol":"COL13A1","pathway_name":"Collagen biosynthesis and modifying enzymes","react_pathway_id":"R-HSA-1650814","source":"CTD"},{"inference_gene_symbol":"SNAP25","pathway_name":"Innate Immune System","react_pathway_id":"R-HSA-168249","source":"CTD"},{"inference_gene_symbol":"SNAP25","pathway_name":"Immune System","react_pathway_id":"R-HSA-168256","source":"CTD"},{"inference_gene_symbol":["SNAP25","SYT2"],"pathway_name":"Neurotoxicity of clostridium toxins","react_pathway_id":"R-HSA-168799","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Chondroitin sulfate/dermatan sulfate metabolism","react_pathway_id":"R-HSA-1793185","source":"CTD"},{"inference_gene_symbol":"SNAP25","pathway_name":"Serotonin Neurotransmitter Release Cycle","react_pathway_id":"R-HSA-181429","source":"CTD"},{"inference_gene_symbol":"SNAP25","pathway_name":"Norepinephrine Neurotransmitter Release Cycle","react_pathway_id":"R-HSA-181430","source":"CTD"},{"inference_gene_symbol":["CHRND","CHRNG"],"pathway_name":"Acetylcholine Binding And Downstream Events","react_pathway_id":"R-HSA-181431","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Metabolism of vitamins and cofactors","react_pathway_id":"R-HSA-196854","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"A tetrasaccharide linker sequence is required for GAG synthesis","react_pathway_id":"R-HSA-1971475","source":"CTD"},{"inference_gene_symbol":["SLC18A3","SYT2"],"pathway_name":"Membrane Trafficking","react_pathway_id":"R-HSA-199991","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"HS-GAG biosynthesis","react_pathway_id":"R-HSA-2022928","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"HS-GAG degradation","react_pathway_id":"R-HSA-2024096","source":"CTD"},{"inference_gene_symbol":"SNAP25","pathway_name":"Glutamate Neurotransmitter Release Cycle","react_pathway_id":"R-HSA-210500","source":"CTD"},{"inference_gene_symbol":"SNAP25","pathway_name":"Dopamine Neurotransmitter Release Cycle","react_pathway_id":"R-HSA-212676","source":"CTD"},{"inference_gene_symbol":["AGRN","COL13A1"],"pathway_name":"Integrin cell surface interactions","react_pathway_id":"R-HSA-216083","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Visual phototransduction","react_pathway_id":"R-HSA-2187338","source":"CTD"},{"inference_gene_symbol":["SLC18A3","SLC5A7","SNAP25"],"pathway_name":"Acetylcholine Neurotransmitter Release Cycle","react_pathway_id":"R-HSA-264642","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Non-integrin membrane-ECM interactions","react_pathway_id":"R-HSA-3000171","source":"CTD"},{"inference_gene_symbol":["AGRN","LRP4"],"pathway_name":"ECM proteoglycans","react_pathway_id":"R-HSA-3000178","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Diseases associated with glycosaminoglycan metabolism","react_pathway_id":"R-HSA-3560782","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Defective B4GALT7 causes EDS, progeroid type","react_pathway_id":"R-HSA-3560783","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Defective B3GAT3 causes JDSSDHD","react_pathway_id":"R-HSA-3560801","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Defective EXT2 causes exostoses 2","react_pathway_id":"R-HSA-3656237","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Defective EXT1 causes exostoses 1, TRPS2 and CHDS","react_pathway_id":"R-HSA-3656253","source":"CTD"},{"inference_gene_symbol":"SCN4A","pathway_name":"L1CAM interactions","react_pathway_id":"R-HSA-373760","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"NCAM signaling for neurite out-growth","react_pathway_id":"R-HSA-375165","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Diseases of glycosylation","react_pathway_id":"R-HSA-3781865","source":"CTD"},{"inference_gene_symbol":"GFPT1","pathway_name":"XBP1(S) activates chaperone genes","react_pathway_id":"R-HSA-381038","source":"CTD"},{"inference_gene_symbol":"GFPT1","pathway_name":"IRE1alpha activates chaperones","react_pathway_id":"R-HSA-381070","source":"CTD"},{"inference_gene_symbol":"GFPT1","pathway_name":"Unfolded Protein Response (UPR)","react_pathway_id":"R-HSA-381119","source":"CTD"},{"inference_gene_symbol":"SLC5A7","pathway_name":"Transmembrane transport of small molecules","react_pathway_id":"R-HSA-382551","source":"CTD"},{"inference_gene_symbol":["ALG14","ALG2","DPAGT1","GFPT1"],"pathway_name":"Metabolism of proteins","react_pathway_id":"R-HSA-392499","source":"CTD"},{"inference_gene_symbol":"SCN4A","pathway_name":"Muscle contraction","react_pathway_id":"R-HSA-397014","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"NCAM1 interactions","react_pathway_id":"R-HSA-419037","source":"CTD"},{"inference_gene_symbol":"SNAP25","pathway_name":"Regulation of insulin secretion","react_pathway_id":"R-HSA-422356","source":"CTD"},{"inference_gene_symbol":["AGRN","SCN4A"],"pathway_name":"Axon guidance","react_pathway_id":"R-HSA-422475","source":"CTD"},{"inference_gene_symbol":"SLC5A7","pathway_name":"Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds","react_pathway_id":"R-HSA-425366","source":"CTD"},{"inference_gene_symbol":"SLC5A7","pathway_name":"SLC-mediated transmembrane transport","react_pathway_id":"R-HSA-425407","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Defective B3GALT6 causes EDSP2 and SEMDJL1","react_pathway_id":"R-HSA-4420332","source":"CTD"},{"inference_gene_symbol":"SCN4A","pathway_name":"Interaction between L1 and Ankyrins","react_pathway_id":"R-HSA-445095","source":"CTD"},{"inference_gene_symbol":["ALG14","ALG2","DPAGT1","GFPT1"],"pathway_name":"Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein","react_pathway_id":"R-HSA-446193","source":"CTD"},{"inference_gene_symbol":["ALG14","ALG2","DPAGT1","GFPT1"],"pathway_name":"Asparagine N-linked glycosylation","react_pathway_id":"R-HSA-446203","source":"CTD"},{"inference_gene_symbol":"GFPT1","pathway_name":"Synthesis of UDP-N-acetyl-glucosamine","react_pathway_id":"R-HSA-446210","source":"CTD"},{"inference_gene_symbol":"GFPT1","pathway_name":"Synthesis of substrates in N-glycan biosythesis","react_pathway_id":"R-HSA-446219","source":"CTD"},{"inference_gene_symbol":"SYT2","pathway_name":"Toxicity of botulinum toxin type B (BoNT/B)","react_pathway_id":"R-HSA-5250958","source":"CTD"},{"inference_gene_symbol":"SNAP25","pathway_name":"Toxicity of botulinum toxin type A (BoNT/A)","react_pathway_id":"R-HSA-5250968","source":"CTD"},{"inference_gene_symbol":"SNAP25","pathway_name":"Toxicity of botulinum toxin type C (BoNT/C)","react_pathway_id":"R-HSA-5250971","source":"CTD"},{"inference_gene_symbol":"SNAP25","pathway_name":"Toxicity of botulinum toxin type E (BoNT/E)","react_pathway_id":"R-HSA-5250992","source":"CTD"},{"inference_gene_symbol":["SNAP25","SYT2"],"pathway_name":"Uptake and actions of bacterial toxins","react_pathway_id":"R-HSA-5339562","source":"CTD"},{"inference_gene_symbol":"SCN4A","pathway_name":"Cardiac conduction","react_pathway_id":"R-HSA-5576891","source":"CTD"},{"inference_gene_symbol":"SCN4A","pathway_name":"Phase 0 - rapid depolarisation","react_pathway_id":"R-HSA-5576892","source":"CTD"},{"inference_gene_symbol":["SLC18A3","SYT2"],"pathway_name":"Vesicle-mediated transport","react_pathway_id":"R-HSA-5653656","source":"CTD"},{"inference_gene_symbol":["SNAP25","SYT2"],"pathway_name":"Infectious disease","react_pathway_id":"R-HSA-5663205","source":"CTD"},{"inference_gene_symbol":["ALG14","ALG2","DPAGT1","GFPT1"],"pathway_name":"Post-translational protein modification","react_pathway_id":"R-HSA-597592","source":"CTD"},{"inference_gene_symbol":["CHRND","CHRNG"],"pathway_name":"Presynaptic nicotinic acetylcholine receptors","react_pathway_id":"R-HSA-622323","source":"CTD"},{"inference_gene_symbol":["CHRND","CHRNG"],"pathway_name":"Postsynaptic nicotinic acetylcholine receptors","react_pathway_id":"R-HSA-622327","source":"CTD"},{"inference_gene_symbol":["CHRND","CHRNG"],"pathway_name":"Highly sodium permeable acetylcholine nicotinic receptors","react_pathway_id":"R-HSA-629587","source":"CTD"},{"inference_gene_symbol":["CHRND","CHRNG"],"pathway_name":"Activation of Nicotinic Acetylcholine Receptors","react_pathway_id":"R-HSA-629602","source":"CTD"},{"inference_gene_symbol":"SYT2","pathway_name":"Interactions of neurexins and neuroligins at synapses","react_pathway_id":"R-HSA-6794361","source":"CTD"},{"inference_gene_symbol":"SYT2","pathway_name":"Protein-protein interactions at synapses","react_pathway_id":"R-HSA-6794362","source":"CTD"},{"inference_gene_symbol":"SNAP25","pathway_name":"Neutrophil degranulation","react_pathway_id":"R-HSA-6798695","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Metabolism of fat-soluble vitamins","react_pathway_id":"R-HSA-6806667","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Metabolism of carbohydrates","react_pathway_id":"R-HSA-71387","source":"CTD"},{"inference_gene_symbol":["SLC18A3","SYT2"],"pathway_name":"Cargo recognition for clathrin-mediated endocytosis","react_pathway_id":"R-HSA-8856825","source":"CTD"},{"inference_gene_symbol":["SLC18A3","SYT2"],"pathway_name":"Clathrin-mediated endocytosis","react_pathway_id":"R-HSA-8856828","source":"CTD"},{"inference_gene_symbol":"SNAP25","pathway_name":"GABA synthesis, release, reuptake and degradation","react_pathway_id":"R-HSA-888590","source":"CTD"},{"inference_gene_symbol":"COL13A1","pathway_name":"Collagen chain trimerization","react_pathway_id":"R-HSA-8948216","source":"CTD"},{"inference_gene_symbol":"AGRN","pathway_name":"Retinoid metabolism and transport","react_pathway_id":"R-HSA-975634","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:4","DOID:574","DOID:439","DOID:17","DOID:870","DOID:0080015","DOID:863","DOID:440","DOID:7"],"children":["DOID:0080587","DOID:0110657","DOID:0110658","DOID:0110659","DOID:0110660","DOID:0110661","DOID:0110662","DOID:0110663","DOID:0110664","DOID:0110665","DOID:0110666","DOID:0110667","DOID:0110668","DOID:0110669","DOID:0110670","DOID:0110671","DOID:0110672","DOID:0110673","DOID:0110674","DOID:0110675","DOID:0110676","DOID:0110677","DOID:0110678","DOID:0110679","DOID:0110680","DOID:0110681","DOID:0110682"],"def":"\"A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic).\" [url:http\\://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome, url:http\\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590]","descendants":["DOID:0110671","DOID:0110668","DOID:0110679","DOID:0110673","DOID:0110676","DOID:0110667","DOID:0110680","DOID:0110675","DOID:0110658","DOID:0110665","DOID:0110677","DOID:0110659","DOID:0110682","DOID:0110662","DOID:0110664","DOID:0110661","DOID:0110669","DOID:0110674","DOID:0110670","DOID:0110663","DOID:0110666","DOID:0110681","DOID:0110678","DOID:0110672","DOID:0080587","DOID:0110657","DOID:0110660"],"doid":"DOID:3635","name":"congenital myasthenic syndrome","parents":["DOID:0080015","DOID:439"],"synonyms":{},"xrefs":{"gard":"11902","mesh":"D020294","mim":"PS601462","ncit":"C84647","ordo":"590","snomedct_us_2025_09_01":"230672006","umls_cui":"C0751882"}},"hpo":{"disease_name":"Congenital myasthenic syndrome","orphanet":"590","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001611","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002205","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002804","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000467","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000508","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002015","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002033","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002882","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003473","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0003701","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0004661","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0004889","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0011968","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000602","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000961","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001249","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001251","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001283","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001558","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002872","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0003324","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0003388","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0004885","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0008443","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0010536","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0011469","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0030842","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100285","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100295","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000218","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000276","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001250","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001252","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001270","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001284","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001612","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001618","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001761","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002421","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002515","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002751","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0003306","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0003325","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0003458","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0003693","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0009053","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0010307","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012801","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0030051","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000308","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000369","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000407","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000565","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000639","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000651","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000768","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0001265","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0001374","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0001561","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0002020","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0002392","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0002870","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0005943","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0007178","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0025401","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0001382","orphanet_refs":"orphanet:590"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001288","orphanet_refs":"orphanet:590"}]},"mondo":{"ancestors":["MONDO:0019056","MONDO:0100546","MONDO:0700096","MONDO:0021017","MONDO:7770009","MONDO:0000001","MONDO:0020124","MONDO:0005071","MONDO:0003847","MONDO:7770006","MONDO:0100545","MONDO:0002254","MONDO:7770008"],"children":["MONDO:0000182","MONDO:0009687","MONDO:0011281","MONDO:0014542","MONDO:0020344","MONDO:0030341","MONDO:0044299","MONDO:0700466"],"definition":"Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness. [Orphanet:590]","descendants":["MONDO:0012157","MONDO:0014983","MONDO:0032675","MONDO:0012518","MONDO:0009690","MONDO:0014583","MONDO:0009689","MONDO:0020344","MONDO:1040021","MONDO:0014468","MONDO:0014590","MONDO:0013620","MONDO:0014586","MONDO:0014542","MONDO:0014587","MONDO:0011088","MONDO:0014585","MONDO:0014939","MONDO:0014745","MONDO:0009687","MONDO:0030341","MONDO:0700466","MONDO:0014543","MONDO:0014578","MONDO:0013883","MONDO:0000182","MONDO:0011281","MONDO:0014052","MONDO:0044299","MONDO:0032597","MONDO:0032596","MONDO:0011600","MONDO:0014588","MONDO:0014582","MONDO:0014581","MONDO:0012156","MONDO:0014584"],"disease_has_feature":{"hp":["HP:0003473"]},"excluded_subClassOf":{"mondo":["MONDO:0020260"]},"label":"congenital myasthenic syndrome","mondo":"MONDO:0018940","parents":["MONDO:0002254","MONDO:0020124","MONDO:0100546"],"should_conform_to":{"http":["http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml"]},"synonym":{"exact":["CMS","Congenital Myasthenic Syndromes","myasthenic syndrome, congenital"],"related":["congenital MG","congenital myasthenia","erb-Goldflam syndrome","myasthenia gravis congenital","myasthenia gravis pseudoparalytica"]},"xrefs":{"doid":["DOID:3635"],"gard":["0011902"],"icd11":["foundation:1515367530"],"icd9":["V17.89","358.00"],"medgen":["155650"],"mesh":["D020294"],"nando":["1200021"],"ncit":["C84647"],"nord":["1893"],"omimps":["601462"],"orphanet":["590"],"sctid":["230672006"],"umls":["C0751882"]}},"original_id":"orphanet:590","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"D020294","preferred":"D020294"},"nci":{"preferred":"C84647"},"snomed":{"non-preferred":"230672006","preferred":"230672006"},"umls":"C0751882"}}