{"orpha":673556,"name":"Pseudomyogenic hemangioendothelioma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Epithelioid sarcoma-like haemangioendothelioma","Fibroma-like variant of epithelioid sarcoma"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-673556/","orphanet_url":"https://www.orpha.net/en/disease/detail/673556","names":{"fr":{"name":"Hémangioendothéliome pseudo-myogénique","synonyms":["Hémangioendothéliome épithélioïde","Sarcome épithélioïde"]},"de":{"name":"Hämangioendotheliom, pseudomyogenes","synonyms":["Epitheloidzellsarkom-ähnliches Hämangioendotheliom","Fibromartige Variante des epithelioiden Sarkoms"]},"es":{"name":"Hemangioendotelioma pseudomiogénico","synonyms":["Hemangioendotelioma similar al sarcoma epitelioide","Variante similar al fibroma del sarcoma epitelioide"]},"it":{"name":"Emangioendotelioma pseudomiogenico"},"nl":{"name":"Pseudomyogeen hemangio-endothelioom"},"pt":{"name":"Hemangioendotelioma pseudomiogénico","synonyms":["Hemangioendotelioma epitelioide sarcoma-like","Variante fibroma-like de sarcoma epitelioide"]},"pl":{"name":"Pseudomyogenic hemangioendothelioma","synonyms":["Epithelioid sarcoma-like haemangioendothelioma","Fibroma-like variant of epithelioid sarcoma"]},"cs":{"name":"Pseudomyogenní hemangioendoteliom","synonyms":["Epithelioid sarcoma-like haemangioendothelioma","Fibroma-like variant of epithelioid sarcoma"]},"uk":{"name":"Псевдоміогенна гемангіоендотеліома"}},"xrefs":[{"source":"ICD-10","code":"D48.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F72.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"220728152"},{"source":"ICD-11","code":"XH26F6","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"321855716"},{"source":"MONDO","code":"975754","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3840252","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":673473,"name":"Borderline vascular tumor","classifications":[147,198,202]},{"orpha":459543,"name":"Rare genetic vascular tumor","classifications":[156]}],"children":[],"genes":[{"symbol":"ACTB","name":"actin beta","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"36803395[PMID]","hgnc":"132","ensembl":"ENSG00000075624","omim":"102630","loci":["7p22.1"]},{"symbol":"FOSB","name":"FosB proto-oncogene, AP-1 transcription factor subunit","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"36803395[PMID]","hgnc":"3797","ensembl":"ENSG00000125740","omim":"164772","loci":["19q13.32"]},{"symbol":"SERPINE1","name":"serpin family E member 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"36803395[PMID]","hgnc":"8583","ensembl":"ENSG00000106366","omim":"173360","loci":["7q22.1"]},{"symbol":"WWTR1","name":"WW domain containing transcription regulator 1","gene_type":"gene with protein product","association":"Part of a fusion gene in","status":"Assessed","source":"36803395[PMID]","hgnc":"24042","ensembl":"ENSG00000018408","omim":"607392","loci":["3q25.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}