{"_id":"MONDO:0018271","_version":1,"ctd":{"chemical_related_to_disease":[{"cas_registry_number":"50-76-0","chemical_name":"Dactinomycin","direct_evidence":"therapeutic","mesh_chemical_id":"D003609","pubmed":"15823816","source":"CTD"},{"cas_registry_number":"23214-92-8","chemical_name":"Doxorubicin","direct_evidence":"therapeutic","mesh_chemical_id":"D004317","pubmed":"15823816","source":"CTD"},{"cas_registry_number":"56420-45-2","chemical_name":"Epirubicin","direct_evidence":"therapeutic","mesh_chemical_id":"D015251","pubmed":"11956280","source":"CTD"},{"cas_registry_number":"33419-42-0","chemical_name":"Etoposide","direct_evidence":"therapeutic","mesh_chemical_id":"D005047","pubmed":["14529689","15823816"],"source":"CTD"},{"cas_registry_number":"3778-73-2","chemical_name":"Ifosfamide","direct_evidence":"therapeutic","mesh_chemical_id":"D007069","pubmed":["11956280","14529689","15823816"],"source":"CTD"},{"chemical_name":"Imatinib Mesylate","direct_evidence":"therapeutic","mesh_chemical_id":"D000068877","pubmed":"15618851","source":"CTD"},{"cas_registry_number":"19767-45-4","chemical_name":"Mesna","direct_evidence":"therapeutic","mesh_chemical_id":"D015080","pubmed":"14529689","source":"CTD"},{"chemical_name":"Vincristine","direct_evidence":"therapeutic","mesh_chemical_id":"D014750","pubmed":["11956280","15823816"],"source":"CTD"}],"mesh":"D018241","pathway_related_to_disease":[{"inference_gene_symbol":"KIT","kegg_pathway_id":"hsa04014","pathway_name":"Ras signaling pathway","source":"CTD"},{"inference_gene_symbol":"KIT","kegg_pathway_id":"hsa04015","pathway_name":"Rap1 signaling pathway","source":"CTD"},{"inference_gene_symbol":"KIT","kegg_pathway_id":"hsa04060","pathway_name":"Cytokine-cytokine receptor interaction","source":"CTD"},{"inference_gene_symbol":"KIT","kegg_pathway_id":"hsa04072","pathway_name":"Phospholipase D signaling pathway","source":"CTD"},{"inference_gene_symbol":"KIT","kegg_pathway_id":"hsa04144","pathway_name":"Endocytosis","source":"CTD"},{"inference_gene_symbol":"KIT","kegg_pathway_id":"hsa04151","pathway_name":"PI3K-Akt signaling pathway","source":"CTD"},{"inference_gene_symbol":"KIT","kegg_pathway_id":"hsa04640","pathway_name":"Hematopoietic cell lineage","source":"CTD"},{"inference_gene_symbol":"KIT","kegg_pathway_id":"hsa04916","pathway_name":"Melanogenesis","source":"CTD"},{"inference_gene_symbol":"KIT","kegg_pathway_id":"hsa05200","pathway_name":"Pathways in cancer","source":"CTD"},{"inference_gene_symbol":"KIT","kegg_pathway_id":"hsa05221","pathway_name":"Acute myeloid leukemia","source":"CTD"},{"inference_gene_symbol":"KIT","kegg_pathway_id":"hsa05224","pathway_name":"Breast cancer","source":"CTD"},{"inference_gene_symbol":"KIT","kegg_pathway_id":"hsa05230","pathway_name":"Central carbon metabolism in cancer","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"IRS-mediated signalling","react_pathway_id":"R-HSA-112399","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"SOS-mediated signalling","react_pathway_id":"R-HSA-112412","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Downstream signaling events of B Cell Receptor (BCR)","react_pathway_id":"R-HSA-1168372","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"PIP3 activates AKT signaling","react_pathway_id":"R-HSA-1257604","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Developmental Biology","react_pathway_id":"R-HSA-1266738","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Cytokine Signaling in Immune system","react_pathway_id":"R-HSA-1280215","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Adaptive Immune System","react_pathway_id":"R-HSA-1280218","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signaling by SCF-KIT","react_pathway_id":"R-HSA-1433557","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Regulation of KIT signaling","react_pathway_id":"R-HSA-1433559","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signal Transduction","react_pathway_id":"R-HSA-162582","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Disease","react_pathway_id":"R-HSA-1643685","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signalling by NGF","react_pathway_id":"R-HSA-166520","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signalling to RAS","react_pathway_id":"R-HSA-167044","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Innate Immune System","react_pathway_id":"R-HSA-168249","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Immune System","react_pathway_id":"R-HSA-168256","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Prolonged ERK activation events","react_pathway_id":"R-HSA-169893","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Frs2-mediated activation","react_pathway_id":"R-HSA-170968","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"ARMS-mediated activation","react_pathway_id":"R-HSA-170984","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signaling by EGFR","react_pathway_id":"R-HSA-177929","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"GRB2 events in EGFR signaling","react_pathway_id":"R-HSA-179812","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"GAB1 signalosome","react_pathway_id":"R-HSA-180292","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"SHC1 events in EGFR signaling","react_pathway_id":"R-HSA-180336","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Downstream signal transduction","react_pathway_id":"R-HSA-186763","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signaling by PDGF","react_pathway_id":"R-HSA-186797","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"NGF signalling via TRKA from the plasma membrane","react_pathway_id":"R-HSA-187037","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signalling to ERKs","react_pathway_id":"R-HSA-187687","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signalling to p38 via RIT and RIN","react_pathway_id":"R-HSA-187706","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signaling by VEGF","react_pathway_id":"R-HSA-194138","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"PI3K/AKT activation","react_pathway_id":"R-HSA-198203","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Negative regulation of the PI3K/AKT network","react_pathway_id":"R-HSA-199418","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Generic Transcription Pathway","react_pathway_id":"R-HSA-212436","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"DAP12 interactions","react_pathway_id":"R-HSA-2172127","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"PI3K/AKT Signaling in Cancer","react_pathway_id":"R-HSA-2219528","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Constitutive Signaling by Aberrant PI3K in Cancer","react_pathway_id":"R-HSA-2219530","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)","react_pathway_id":"R-HSA-2404192","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"DAP12 signaling","react_pathway_id":"R-HSA-2424491","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"IGF1R signaling cascade","react_pathway_id":"R-HSA-2428924","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"IRS-related events triggered by IGF1R","react_pathway_id":"R-HSA-2428928","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Fc epsilon receptor (FCERI) signaling","react_pathway_id":"R-HSA-2454202","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signaling by Leptin","react_pathway_id":"R-HSA-2586552","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Role of LAT2/NTAL/LAB on calcium mobilization","react_pathway_id":"R-HSA-2730905","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"FCERI mediated MAPK activation","react_pathway_id":"R-HSA-2871796","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signaling by GPCR","react_pathway_id":"R-HSA-372790","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"NCAM signaling for neurite out-growth","react_pathway_id":"R-HSA-375165","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Axon guidance","react_pathway_id":"R-HSA-422475","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"VEGFA-VEGFR2 Pathway","react_pathway_id":"R-HSA-4420097","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signaling by Interleukins","react_pathway_id":"R-HSA-449147","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Interleukin-2 signaling","react_pathway_id":"R-HSA-451927","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Interleukin-3, 5 and GM-CSF signaling","react_pathway_id":"R-HSA-512988","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"VEGFR2 mediated cell proliferation","react_pathway_id":"R-HSA-5218921","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Diseases of signal transduction","react_pathway_id":"R-HSA-5663202","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"RAF/MAP kinase cascade","react_pathway_id":"R-HSA-5673001","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"MAPK family signaling cascades","react_pathway_id":"R-HSA-5683057","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"MAPK1/MAPK3 signaling","react_pathway_id":"R-HSA-5684996","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling","react_pathway_id":"R-HSA-6811558","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Gene Expression","react_pathway_id":"R-HSA-74160","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Insulin receptor signalling cascade","react_pathway_id":"R-HSA-74751","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signaling by Insulin receptor","react_pathway_id":"R-HSA-74752","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Gastrin-CREB signalling pathway via PKC and MAPK","react_pathway_id":"R-HSA-881907","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"RET signaling","react_pathway_id":"R-HSA-8853659","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors","react_pathway_id":"R-HSA-8864260","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"TFAP2 (AP-2) family regulates transcription of growth factors and their receptors","react_pathway_id":"R-HSA-8866910","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Interleukin receptor SHC signaling","react_pathway_id":"R-HSA-912526","source":"CTD"},{"inference_gene_symbol":"KIT","pathway_name":"Signaling by the B Cell Receptor (BCR)","react_pathway_id":"R-HSA-983705","source":"CTD"}]},"hpo":{"disease_name":"Peripheral primitive neuroectodermal tumor","orphanet":"370348","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040280","hpo_id":"HP:0030067","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000473","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000952","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000989","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001250","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001265","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001541","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001733","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001824","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001892","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001903","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001965","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002017","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002039","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002315","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002321","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002574","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002894","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0003270","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0003418","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0003474","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0007340","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0010302","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0010784","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012513","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0030692","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0031030","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0031501","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0100608","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0100615","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0100711","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000520","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0000826","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0006254","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0011932","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0025435","orphanet_refs":"orphanet:370348"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040284","hpo_id":"HP:0100849","orphanet_refs":"orphanet:370348"}]},"mondo":{"ancestors":["MONDO:0000001","MONDO:0045024","MONDO:0021248","MONDO:0001406","MONDO:0005462","MONDO:0004992","MONDO:0021089","MONDO:0005564","MONDO:0021038","MONDO:0021193","MONDO:0005872","MONDO:0003620","MONDO:7770008","MONDO:0005070","MONDO:0005071","MONDO:7770006","MONDO:0023370","MONDO:0700096"],"children":["MONDO:0002981","MONDO:0002982","MONDO:0006094"],"definition":"A small round cell tumor with neural differentiation arising from the soft tissues or bone. [NCIT:C9341]","descendants":["MONDO:0006094","MONDO:0002981","MONDO:0002982"],"excluded_subClassOf":{"mondo":["MONDO:0021054"]},"label":"peripheral primitive neuroectodermal tumor","mondo":"MONDO:0018271","parents":["MONDO:0005462","MONDO:0021038","MONDO:0021089"],"synonym":{"exact":["peripheral neuroectodermal neoplasm","peripheral neuroectodermal tumor","peripheral neuroectodermal tumour","peripheral neuroepithelioma","peripheral PNET","peripheral primitive neuroectodermal neoplasm","peripheral primitive neuroectodermal tumor","PPNET","pPNET"]},"xrefs":{"gard":["0017601"],"icdo":["9364/3"],"medgen":["151926"],"nando":["2200055","2200054"],"ncit":["C9341"],"orphanet":["370348"],"umls":["C0684337"]}},"original_id":["MESH:D018241","orphanet:370348","UMLS:C0684337","UMLS:C0206093"],"umls":[{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10am":{"non-preferred":"M9364/3"},"mesh":{"non-preferred":"D018241","preferred":"D018241"},"nci":{"non-preferred":"C9341","preferred":"C9341"},"snomed":{"non-preferred":["703707001","253096008","73676002"],"preferred":"73676002"},"umls":"C0684337"},{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"preferred":"D017599"},"snomed":{"preferred":["253096008","73676002"]},"umls":"C0206093"}]}