{"Name":"Epithelioid hemangioendothelioma","DiseaseID__c":"GARD:0020014","id":20014,"encodedName":"epithelioid-hemangioendothelioma","IsDeleted":false,"Disease_Name_Full__c":"Epithelioid hemangioendothelioma","Xref_IDs__c":"54124005; C0334538; C3800; D018323; DOID:0080190; MEDGEN:569676; MONDO:0015523; ORPHA:157791","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0015523","Disease_Description__c":"A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.","GARD_Name__c":"Epithelioid hemangioendothelioma","GARD_Synonym__c":"epithelioid angioendothelioma; epithelioid angiosarcoma; epithelioid hemangioendothelioma, malignant; malignant epithelioid hemangioendothelioma","Curated_Disease_Description_Source__c":"ORPHA:157791","Curated_Disease_Description__c":"A rare vascular tumor characterized by a solitary lesion in the superficial or deep soft tissue of the extremities, most often originating from a small vein as a fusiform intravascular mass also infiltrating surrounding tissues. It is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma. Patients present with an often painful nodule which may be associated with edema or thrombophlebitis. In classic epithelioid hemangioendothelioma lacking atypical histological features metastatic rate and mortality are low.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:157791","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015523","ORPHANET_ID__c":"ORPHA:157791","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hemangioendotelioma epitelioide","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"hemangioendotelioma epitelioide","Spanish_GARD_Synonym__c":"hee","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare vascular tumor characterized by a solitary lesion in the superficial or deep soft tissue of the extremities, most often originating from a small vein as a fusiform intravascular mass also infiltrating surrounding tissues. It is composed of epithelioid endothelial cells arranged in short cords and nests in a myxohyaline stroma. Patients present with an often painful nodule which may be associated with edema or thrombophlebitis. In classic epithelioid hemangioendothelioma lacking atypical histological features metastatic rate and mortality are low.","Curated_Disease_Description_Source__c":"ORPHA:157791","GARD_Synonym__c":"epithelioid angioendothelioma; epithelioid angiosarcoma; epithelioid hemangioendothelioma, malignant; malignant epithelioid hemangioendothelioma","Name":"Epithelioid hemangioendothelioma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Sarcoma UK","Website__c":"https://sarcoma.org.uk/"},{"Account_Name__c":"The EHE Foundation","Website__c":"https://fightehe.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:157791"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:157791"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:157791"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:157791"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/157791","Source__c":"C0334538; MONDO:0015523","Xref__c":"ORPHA:157791"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018323","Source__c":"MONDO:0015523","Xref__c":"D018323"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=569676","Source__c":"C0334538","Xref__c":"MEDGEN:569676"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0334538","Source__c":"C0334538","Xref__c":"C0334538"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080190","Source__c":"MONDO:0015523","Xref__c":"DOID:0080190"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=54124005","Source__c":"C0334538; MONDO:0015523","Xref__c":"54124005"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3800","Source__c":"C0334538; MONDO:0015523","Xref__c":"C3800"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015523","Source__c":"GARD:0020014","Xref__c":"MONDO:0015523"}],"tags":{"Specialist":["Cancer - Oncologist","Genetics","Vascular Medicine","Pediatrics"],"Disease Category":["Cancer","Genetics","Congenital Abnormality"],"Cause":["Genetics"]},"synonyms":["epithelioid angioendothelioma"," epithelioid angiosarcoma"," epithelioid hemangioendothelioma, malignant"," malignant epithelioid hemangioendothelioma"]}