{"Name":"Epithelioid sarcoma","DiseaseID__c":"GARD:0010181","id":10181,"encodedName":"epithelioid-sarcoma","IsDeleted":false,"Disease_Name_Full__c":"Epithelioid sarcoma","Xref_IDs__c":"59238007; 782827000; C0205944; C3714; DOID:6193; MEDGEN:104753; MONDO:0017387; ORPHA:293202","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0017387","Disease_Description__c":"An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma).","GARD_Name__c":"Epithelioid sarcoma","GARD_Synonym__c":"epithelioid cell sarcoma; es","Curated_Disease_Description_Source__c":"GARD:0010181","Curated_Disease_Description__c":"Epithelioid sarcoma (ES) is a rare cancerous tumor that most often occurs in the soft tissue of the fingers, hands and forearms of young adults. It can also occur elsewhere in the body. ES usually begins as a painless, firm growth or bump that may be accompanied by an open wound (ulceration) in the skin covering the growth. The cause of Epithelioid sarcoma is unknown. It is diagnosed by a clinical examination and by testing a small sample of the tumor (biopsy) in a laboratory.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:293202","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017387","ORPHANET_ID__c":"ORPHA:293202","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Sarcoma epitelioide","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"sarcoma epitelioide","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","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":"Epithelioid sarcoma (ES) is a rare cancerous tumor that most often occurs in the soft tissue of the fingers, hands and forearms of young adults. It can also occur elsewhere in the body. ES usually begins as a painless, firm growth or bump that may be accompanied by an open wound (ulceration) in the skin covering the growth. The cause of Epithelioid sarcoma is unknown. It is diagnosed by a clinical examination and by testing a small sample of the tumor (biopsy) in a laboratory.","Curated_Disease_Description_Source__c":"GARD:0010181","GARD_Synonym__c":"epithelioid cell sarcoma; es","Name":"Epithelioid sarcoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Sarcoma UK","Website__c":"https://sarcoma.org.uk/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:293202"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:293202"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:293202"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3714","Source__c":"C0205944; MONDO:0017387","Xref__c":"C3714"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=104753","Source__c":"C0205944","Xref__c":"MEDGEN:104753"},{"URL__c":"https://www.orpha.net/en/disease/detail/293202","Source__c":"C0205944; MONDO:0017387; ORPHA:293202","Xref__c":"ORPHA:293202"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0205944","Source__c":"C0205944","Xref__c":"C0205944"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A6193","Source__c":"MONDO:0017387","Xref__c":"DOID:6193"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=782827000","Source__c":"C0205944","Xref__c":"782827000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=59238007","Source__c":"C0205944","Xref__c":"59238007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017387","Source__c":"GARD:0010181","Xref__c":"MONDO:0017387"}],"tags":{"Specialist":["Cancer - Oncologist","Pediatrics"],"Disease Category":["Cancer"]},"synonyms":["epithelioid cell sarcoma"," es"]}