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The tumor usually presents in the extremities.","GARD_Name__c":"Alveolar rhabdomyosarcoma","GARD_Synonym__c":"alveolar childhood rhabdomyosarcoma; alveolar rhabdomyosarcoma (disease); alveolar rhabdomyosarcoma (morphologic abnormality); arms; monomorphous round cell rhabdomyosarcoma; paediatric alveolar rhabdomyosarcoma; pediatric alveolar rhabdomyosarcoma; rhabdomyosarcoma 2; rhabdomyosarcoma 2, alveolar, somatic mutation; rhabdomyosarcoma type 2; rhabdomyosarcoma, alveolar, somatic mutation; rms2","Curated_Disease_Description_Source__c":"MONDO:0009994","Curated_Disease_Description__c":"A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:99756","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009994","ORPHANET_ID__c":"ORPHA:99756","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Rabdomiosarcoma alveolar","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"rabdomiosarcoma alveolar","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":"A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.","Curated_Disease_Description_Source__c":"MONDO:0009994","GARD_Synonym__c":"alveolar childhood rhabdomyosarcoma; alveolar rhabdomyosarcoma (disease); alveolar rhabdomyosarcoma (morphologic abnormality); arms; monomorphous round cell rhabdomyosarcoma; paediatric alveolar rhabdomyosarcoma; pediatric alveolar rhabdomyosarcoma; rhabdomyosarcoma 2; rhabdomyosarcoma 2, alveolar, somatic mutation; rhabdomyosarcoma type 2; rhabdomyosarcoma, alveolar, somatic mutation; rms2","Name":"Alveolar rhabdomyosarcoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"Sarcoma UK","Website__c":"https://sarcoma.org.uk/"},{"Account_Name__c":"Sarcoma Foundation of America","Website__c":"https://www.curesarcoma.org/"},{"Account_Name__c":"Summer's Way Foundation","Website__c":"https://summersway.org/"},{"Account_Name__c":"Sarcoma Alliance for Research through Collaboration","Website__c":"https://sarctrials.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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0206655"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004701","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=404053004","Source__c":"C0206655; MONDO:0009994","Xref__c":"404053004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0206655","Source__c":"C0206655","Xref__c":"C0206655"},{"URL__c":"https://www.orpha.net/en/disease/detail/99756","Source__c":"C0206655; MONDO:0009994; ORPHA:99756","Xref__c":"ORPHA:99756"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A4051","Source__c":"MONDO:0009994","Xref__c":"DOID:4051"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=61651","Source__c":"C0206655","Xref__c":"MEDGEN:61651"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C018232","Source__c":"C0206655; MONDO:0009994","Xref__c":"D018232"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3749","Source__c":"C0206655; MONDO:0009994","Xref__c":"C3749"},{"URL__c":"https://www.omim.org/entry/268220","Source__c":"C0206655; MONDO:0009994; ORPHA:99756","Xref__c":"OMIM:268220"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=63449009","Source__c":"C0206655","Xref__c":"63449009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009994","Source__c":"GARD:0004701","Xref__c":"MONDO:0009994"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0006779","Source__c":"C0206655","Xref__c":"HP:0006779"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FOXO1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PAX7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PAX3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pax3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Non-Mendelian inheritance"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:268220","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006779","HPO_Name__c":"Alveolar rhabdomyosarcoma","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Neuromuscular medicine"],"Disease Category":["Cancer","Neurology"]},"synonyms":["alveolar childhood rhabdomyosarcoma"," alveolar rhabdomyosarcoma (disease)"," alveolar rhabdomyosarcoma (morphologic abnormality)"," arms"," monomorphous round cell rhabdomyosarcoma"," paediatric alveolar rhabdomyosarcoma"," pediatric alveolar rhabdomyosarcoma"," rhabdomyosarcoma 2"," rhabdomyosarcoma 2, alveolar, somatic mutation"," rhabdomyosarcoma type 2"," rhabdomyosarcoma, alveolar, somatic mutation"," rms2"]}