{"orpha":178,"name":"Chordoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Notochordal sarcoma"],"definition":"Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-178/","orphanet_url":"https://www.orpha.net/en/disease/detail/178","names":{"fr":{"name":"Chordome","definition":"Les chordomes sont des tumeurs malignes rares se développant à partir des reliquats embryonnaires de la notochorde du squelette axial."},"de":{"name":"Chordom","synonyms":["Notochordales Sarkom"],"definition":"Chordome sind seltene maligne Tumoren, die sich aus embryonalen Resten des Notochords im Achsialskelett entwickeln."},"es":{"name":"Cordoma","synonyms":["Sarcoma notocordal"],"definition":"Los cordomas son tumores malignos raros que se originan a partir de remanentes embrionarios de la notocorda en el esqueleto axial."},"it":{"name":"Cordoma","synonyms":["Sarcoma notocordale"]},"nl":{"name":"Chordoom","synonyms":["Notochordaal sarcoom"],"definition":"Een zeldzame maligne tumor, afkomstig van embryonale resten van chorda dorsalis in axiaal skelet."},"pt":{"name":"Cordoma"},"pl":{"name":"Struniak","synonyms":["Mięsak ze struny grzbietowej"]},"cs":{"name":"Chordom","synonyms":["Notochordální sarkom"]},"uk":{"name":"Хордома","synonyms":["Нотохордальна саркома"],"definition":"Chordomas are rare malignant tumors arising from embryonic remnants of the notochord in axial skeleton."},"zh":{"name":"脊索瘤","synonyms":["脊索肉瘤"]},"tr":{"name":"Kordoma","synonyms":["Notokordal sarkom"]}},"xrefs":[{"source":"OMIM","code":"215400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"C80.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2B5J","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"898231522"},{"source":"MONDO","code":"0008978","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D002817","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0008487","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1303","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10008747","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":183527,"name":"Genetic bone tumor","classifications":[156]},{"orpha":271847,"name":"Genetic neuroendocrine tumor","classifications":[156]},{"orpha":100101,"name":"Neuroendocrine tumor with other location","classifications":[193,202]},{"orpha":95503,"name":"Pituitary hormone deficiency of tumoral origin","classifications":[193]},{"orpha":68411,"name":"Rare bone tumor","classifications":[199,202]}],"children":[],"genes":[{"symbol":"BRCA2","name":"BRCA2 DNA repair associated","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"35762214[PMID]","hgnc":"1101","ensembl":"ENSG00000139618","omim":"600185","loci":["13q13.1"]},{"symbol":"PALB2","name":"partner and localizer of BRCA2","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"35762214[PMID]","hgnc":"26144","ensembl":"ENSG00000083093","omim":"610355","loci":["16p12.2"]},{"symbol":"TBXT","name":"T-box transcription factor T","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"19801981[PMID]_23064415[PMID]","hgnc":"11515","ensembl":"ENSG00000164458","omim":"601397","loci":["6q27"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.06,"area":"United States","status":"Validated","source":"22300861[PMID]_ ORPHANET_[EXPERT]"}],"phenotypes":null}