{"_id":"MONDO:0015247","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"19794-93-5","chemical_name":"Trazodone","direct_evidence":"therapeutic","mesh_chemical_id":"D014196","pubmed":"1318289","source":"CTD"},"mesh":"D053578","pathway_related_to_disease":[{"inference_gene_symbol":"POMC","kegg_pathway_id":"hsa04916","pathway_name":"Melanogenesis","source":"CTD"},{"inference_gene_symbol":"POMC","kegg_pathway_id":"hsa04920","pathway_name":"Adipocytokine signaling pathway","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Opioid Signalling","react_pathway_id":"R-HSA-111885","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Cytokine Signaling in Immune system","react_pathway_id":"R-HSA-1280215","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Metabolism","react_pathway_id":"R-HSA-1430728","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Signal Transduction","react_pathway_id":"R-HSA-162582","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Disease","react_pathway_id":"R-HSA-1643685","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Immune System","react_pathway_id":"R-HSA-168256","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Androgen biosynthesis","react_pathway_id":"R-HSA-193048","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Glucocorticoid biosynthesis","react_pathway_id":"R-HSA-194002","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Metabolism of steroid hormones","react_pathway_id":"R-HSA-196071","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"G-protein activation","react_pathway_id":"R-HSA-202040","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Peptide hormone biosynthesis","react_pathway_id":"R-HSA-209952","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Biological oxidations","react_pathway_id":"R-HSA-211859","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Cytochrome P450 - arranged by substrate type","react_pathway_id":"R-HSA-211897","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Phase 1 - Functionalization of compounds","react_pathway_id":"R-HSA-211945","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Endogenous sterols","react_pathway_id":"R-HSA-211976","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Peptide hormone metabolism","react_pathway_id":"R-HSA-2980736","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Signaling by GPCR","react_pathway_id":"R-HSA-372790","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Class A/1 (Rhodopsin-like receptors)","react_pathway_id":"R-HSA-373076","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Peptide ligand-binding receptors","react_pathway_id":"R-HSA-375276","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"GPCR downstream signaling","react_pathway_id":"R-HSA-388396","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Metabolism of proteins","react_pathway_id":"R-HSA-392499","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"G alpha (s) signalling events","react_pathway_id":"R-HSA-418555","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"G alpha (i) signalling events","react_pathway_id":"R-HSA-418594","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Signaling by Interleukins","react_pathway_id":"R-HSA-449147","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"GPCR ligand binding","react_pathway_id":"R-HSA-500792","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Metabolism of lipids and lipoproteins","react_pathway_id":"R-HSA-556833","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Metabolic disorders of biological oxidation enzymes","react_pathway_id":"R-HSA-5579029","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Defective ACTH causes Obesity and Pro-opiomelanocortinin deficiency (POMCD)","react_pathway_id":"R-HSA-5579031","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Diseases of metabolism","react_pathway_id":"R-HSA-5668914","source":"CTD"},{"inference_gene_symbol":"POMC","pathway_name":"Interleukin-4 and 13 signaling","react_pathway_id":"R-HSA-6785807","source":"CTD"}]},"hpo":{"disease_name":"Opsoclonus-myoclonus syndrome","orphanet":"1183","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000570","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001251","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001336","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002360","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0010543","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000708","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000737","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002321","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0002664","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0003006","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0045084","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100543","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:5000002","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001298","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002063","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002861","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0003002","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012226","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0030057","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0030357","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0031035","orphanet_refs":"orphanet:1183"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0100526","orphanet_refs":"orphanet:1183"}]},"mondo":{"ancestors":["MONDO:0021073","MONDO:0005395","MONDO:0700096","MONDO:0000001","MONDO:0005071","MONDO:0045054","MONDO:0045024","MONDO:0018215","MONDO:7770006","MONDO:0002254","MONDO:7770008"],"definition":"Opsoclonus myoclonus syndrome (OMS) is a rare neuroinflammatory disease of paraneoplastic, parainfectious or idiopathic origin, characterized by opsoclonus, myoclonus, ataxia, and behavioral and sleep disorders. [Orphanet:1183]","label":"opsoclonus-myoclonus syndrome","mondo":"MONDO:0015247","parents":["MONDO:0005395","MONDO:0018215"],"synonym":{"exact":["Ataxo-opso-myoclonus syndrome","dancing eye syndrome","dancing eye-dancing feet syndrome","Kinsbourne syndrome","oma syndrome","OMS","opsoclonus myoclonus syndrome","Opsoclonus-Myoclonus-Ataxia Syndrome","opsoclonus-myoclonus-ataxia syndrome","paraneoplastic opsoclonus-myoclonus","paraneoplastic opsoclonus-myoclonus-ataxia syndrome","POMA syndrome"]},"xrefs":{"efo":["EFO:1001383"],"gard":["0010009"],"icd9":["379.59"],"meddra":["10053854"],"medgen":["97955"],"mesh":["D053578"],"ncit":["C4686"],"orphanet":["1183"],"sctid":["230350000"],"umls":["C0393626"]}},"original_id":"orphanet:1183","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"D053578","preferred":"D053578"},"nci":{"preferred":"C4686"},"snomed":{"non-preferred":"230350000","preferred":"230350000"},"umls":"C0393626"}}