{"Name":"Bone osteosarcoma","DiseaseID__c":"GARD:0007284","id":7284,"encodedName":"bone-osteosarcoma","IsDeleted":false,"Disease_Name_Full__c":"Bone osteosarcoma","Xref_IDs__c":"307576001; C0585442; C53707; DOID:3376; MEDGEN:108437; MONDO:0002629; OMIM:259500; ORPHA:668","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0002629","Disease_Description__c":"A usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs.","GARD_Name__c":"Bone osteosarcoma","GARD_Synonym__c":"osteogenic sarcoma; osteosarcoma; osteosarcoma of bone; osteosarcoma, somatic; osteosarcoma, somatic mutation; primary osteosarcoma of bone","Curated_Disease_Description_Source__c":"GARD:0007284","Curated_Disease_Description__c":"Osteosarcoma is the most common type of bone cancer. Boys and girls have a similar incidence of this tumor until late adolescence, at which time boys are more commonly affected. In rare cases, Osteosarcoma occurs in adults. Although Osteosarcoma tends to occur in the larger bones, such as the shin (near the knee), thigh (near the knee) and upper arm (near the shoulder), it can occur in any bone. A number of variants of Osteosarcoma exist, including conventional types (osteoblastic, chondroblastic, and fibroblastic), telangiectatic, multifocal, parosteal, and periosteal. The cause of Osteosarcoma is not known. In some cases, it runs in families, and at least one gene has been linked to increased risk.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:668","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0002629","ORPHANET_ID__c":"ORPHA:668","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Osteosarcoma","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"osteosarcoma","Spanish_GARD_Synonym__c":"sarcoma osteógeno","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":"Osteosarcoma is the most common type of bone cancer. Boys and girls have a similar incidence of this tumor until late adolescence, at which time boys are more commonly affected. In rare cases, Osteosarcoma occurs in adults. Although Osteosarcoma tends to occur in the larger bones, such as the shin (near the knee), thigh (near the knee) and upper arm (near the shoulder), it can occur in any bone. A number of variants of Osteosarcoma exist, including conventional types (osteoblastic, chondroblastic, and fibroblastic), telangiectatic, multifocal, parosteal, and periosteal. The cause of Osteosarcoma is not known. In some cases, it runs in families, and at least one gene has been linked to increased risk.","Curated_Disease_Description_Source__c":"GARD:0007284","GARD_Synonym__c":"osteogenic sarcoma; osteosarcoma; osteosarcoma of bone; osteosarcoma, somatic; osteosarcoma, somatic mutation; primary osteosarcoma of bone","Name":"Bone osteosarcoma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Sarcoma UK","Website__c":"https://sarcoma.org.uk/"},{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"Rare Cancers Australia","Website__c":"http://rarecancers.org.au/"},{"Account_Name__c":"Osteosarcoma Project","Website__c":"https://osproject.org/"},{"Account_Name__c":"Sarcoma Foundation of America","Website__c":"https://www.curesarcoma.org/"},{"Account_Name__c":"Sarcoma Alliance","Website__c":"https://sarcomaalliance.org/"},{"Account_Name__c":"The Limb Preservation Foundation","Website__c":"http://limbpreservation.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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:668"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0029463"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0007284","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=108437","Source__c":"C0585442","Xref__c":"MEDGEN:108437"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A3376","Source__c":"MONDO:0002629","Xref__c":"DOID:3376"},{"URL__c":"https://www.omim.org/entry/259500","Source__c":"MONDO:0002629; ORPHA:668","Xref__c":"OMIM:259500"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=307576001","Source__c":"C0585442; MONDO:0002629","Xref__c":"307576001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0585442","Source__c":"C0585442","Xref__c":"C0585442"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C53707","Source__c":"C0585442; MONDO:0002629","Xref__c":"C53707"},{"URL__c":"https://www.orpha.net/en/disease/detail/668","Source__c":"C0585442; MONDO:0002629","Xref__c":"ORPHA:668"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0002629","Source__c":"GARD:0007284","Xref__c":"MONDO:0002629"},{"URL__c":"https://www.cancer.gov/types/bone"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CHEK2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TP53","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tp53","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000944","HPO_Synonym__c":"Abnormality of the wide portion of a long bone","HPO_Name__c":"Abnormal metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deviation from the normal serum concentration/activity of lactate dehydrogenase (LDH), which catalyzes the reduction of pyruvate to form lactate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0045040","HPO_Synonym__c":"Abnormal circulating LDH concentration; Abnormal lactate dehydrogenase level; Abnormal LDH level; AbnormalLDH level","HPO_Name__c":"Abnormal circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevated level of the enzyme lactate dehydrogenase in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025435","HPO_Synonym__c":"Increased circulating LDH concentration; Increased lactate dehydrogenase level","HPO_Name__c":"Increased circulating lactate dehydrogenase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001386","HPO_Synonym__c":"Joint swelling","HPO_Name__c":"Joint swelling","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:668","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Body temperature elevated above the normal range.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001945","HPO_Synonym__c":"Fever; Hyperthermia; Pyrexia","HPO_Name__c":"Fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:668","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the femoral metaphysis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006489","HPO_Synonym__c":"Abnormality of the femoral metaphysis","HPO_Name__c":"Abnormal femoral metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:668","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Osteolysis refers to the destruction of bone through bone resorption with removal or loss of calcium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002797","HPO_Synonym__c":"Breakdown of bone; Increased bone resorption; Osteolytic defects of bones","HPO_Name__c":"Osteolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensory and emotional experience associated with actual or potential tissue damage, or described in terms of such damage.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012531","HPO_Synonym__c":"Pain","HPO_Name__c":"Pain","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:668","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002756","HPO_Synonym__c":"Spontaneous fracture","HPO_Name__c":"Pathologic fracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:668","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Reduction of total body weight.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001824","HPO_Synonym__c":"Loss of weight","HPO_Name__c":"Weight loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006491","HPO_Synonym__c":"Abnormality of the tibial metaphysis","HPO_Name__c":"Abnormal tibial metaphysis morphology","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:668","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased serum levels of alkaline phosphatase activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003155","HPO_Synonym__c":"Elevated alkaline phosphatase; Elevated ALP; Greatly elevated alkaline phosphatase; High serum alkaline phosphatase; Hyperphosphatasemia; Hyperphosphatasia; Increased alkaline phosphatase; Increased serum alkaline phosphatase","HPO_Name__c":"Elevated circulating alkaline phosphatase concentration","HPO_Feature_Type__c":"Lab"}}],"tags":{"Specialist":["Cancer - Oncologist","Orthopedics","Pediatrics"],"Disease Category":["Cancer"]},"synonyms":["osteogenic sarcoma"," osteosarcoma"," osteosarcoma of bone"," osteosarcoma, somatic"," osteosarcoma, somatic mutation"," primary osteosarcoma of bone"]}