{"Name":"Burkitt lymphoma","DiseaseID__c":"GARD:0005973","id":5973,"encodedName":"burkitt-lymphoma","IsDeleted":false,"Disease_Name_Full__c":"Burkitt lymphoma","Xref_IDs__c":"118617000; 77381001; C0006413; C2912; C83.7; D002051; DOID:8584; HP:0030080; MEDGEN:2377; MONDO:0007243; OMIM:113970; ORPHA:543","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":0,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0007243","Disease_Description__c":"Burkitt lymphoma is a rare form of malignant mature B-cell non-Hodgkin lymphoma.","GARD_Name__c":"Burkitt lymphoma","GARD_Synonym__c":"bl; bl - burkitt's lymphoma; burkitt lymphoma, somatic; burkitt lymphoma/leukemia; burkitt's lymphoma; burkitt's lymphoma - disorder; burkitt's lymphoma (clinical); burkitt's tumor; burkitt's tumor or lymphoma; burkitt's tumour; burkitt's tumour or lymphoma; burkitt's type malignant lymphoma - small non-cleaved; burkitt's type malignant lymphoma - undifferentiated; malignant lymphoma, burkitt's type; malignant lymphoma, small noncleaved, burkitt's, diffuse; small non-cleaved cell lymphoma; small non-cleaved cell lymphoma, burkitt's type","Curated_Disease_Description_Source__c":"GARD:0005973","Curated_Disease_Description__c":"Burkitt lymphoma (BL) is a very fast-growing type of cancer. It is a form of B-cell non-Hodgkin's lymphoma. Signs and symptoms may differ depending on the form of BL and the organs or body systems involved. When it spreads, weakness and fatigue often develop. Lymphoma cells may build up in the lymph nodes and other organs, causing swelling. Central nervous system involvement is possible with all forms of BL, particularly when there is advanced-stage disease. The exact cause of BL is not known. EBV infection appears to play a role in some cases. While acquired (not inherited) genetic changes involving the MYC gene and other genes are present within BL cancer cells, it is unclear what causes these genetic changes to occur.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:543","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0007243","ORPHANET_ID__c":"ORPHA:543","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Linfoma de burkitt","Spanish_Description_Source__c":"ORPHA:543","Spanish_Description__c":"Es una forma poco frecuente de linfoma no Hodgkin de células B maduras malignas.","Spanish_Disease_Name__c":"linfoma de burkitt","Spanish_GARD_Synonym__c":"linfoma de células pequeñas no hendidas","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":"Burkitt lymphoma (BL) is a very fast-growing type of cancer. It is a form of B-cell non-Hodgkin's lymphoma. Signs and symptoms may differ depending on the form of BL and the organs or body systems involved. When it spreads, weakness and fatigue often develop. Lymphoma cells may build up in the lymph nodes and other organs, causing swelling. Central nervous system involvement is possible with all forms of BL, particularly when there is advanced-stage disease. The exact cause of BL is not known. EBV infection appears to play a role in some cases. While acquired (not inherited) genetic changes involving the MYC gene and other genes are present within BL cancer cells, it is unclear what causes these genetic changes to occur.","Curated_Disease_Description_Source__c":"GARD:0005973","GARD_Synonym__c":"bl; bl - burkitt's lymphoma; burkitt lymphoma, somatic; burkitt lymphoma/leukemia; burkitt's lymphoma; burkitt's lymphoma - disorder; burkitt's lymphoma (clinical); burkitt's tumor; burkitt's tumor or lymphoma; burkitt's tumour; burkitt's tumour or lymphoma; burkitt's type malignant lymphoma - small non-cleaved; burkitt's type malignant lymphoma - undifferentiated; malignant lymphoma, burkitt's type; malignant lymphoma, small noncleaved, burkitt's, diffuse; small non-cleaved cell lymphoma; small non-cleaved cell lymphoma, burkitt's type","Name":"Burkitt lymphoma","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"HealthTree Foundation","Website__c":"https://healthtree.org/"},{"Account_Name__c":"American Cancer Society","Website__c":"https://www.cancer.org"},{"Account_Name__c":"Lymphoma Research Foundation","Website__c":"https://lymphoma.org/"},{"Account_Name__c":"Blood Cancer United","Website__c":"https://bloodcancerunited.org/"},{"Account_Name__c":"Burkitt's Lymphoma Society","Website__c":"http://burkittslymphomasociety.com/"},{"Account_Name__c":"Lymphoma Coalition","Website__c":"https://lymphomacoalition.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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:543"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0006413"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0024305"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005973","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C002051","Source__c":"C0006413; MONDO:0007243","Xref__c":"D002051"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A8584","Source__c":"MONDO:0007243","Xref__c":"DOID:8584"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=118617000","Source__c":"C0006413; MONDO:0007243","Xref__c":"118617000"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0006413","Source__c":"C0006413","Xref__c":"C0006413"},{"URL__c":"https://www.omim.org/entry/113970","Source__c":"C0006413; MONDO:0007243; ORPHA:543","Xref__c":"OMIM:113970"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C2912","Source__c":"C0006413; MONDO:0007243","Xref__c":"C2912"},{"URL__c":"https://www.orpha.net/en/disease/detail/543","Source__c":"C0006413; MONDO:0007243; ORPHA:543","Xref__c":"ORPHA:543"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=2377","Source__c":"C0006413","Xref__c":"MEDGEN:2377"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/C83.7","Source__c":"MONDO:0007243","Xref__c":"C83.7"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030080","Source__c":"C0006413","Xref__c":"HP:0030080"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=397400006","Source__c":"C0006413","Xref__c":"397400006"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=77381001","Source__c":"C0006413","Xref__c":"77381001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007243","Source__c":"GARD:0005973","Xref__c":"MONDO:0007243"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MYC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:543","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A structural lymph node abnormality.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002733","HPO_Synonym__c":"Abnormal lymph node histology; Abnormality of the lymph nodes","HPO_Name__c":"Abnormal lymph node morphology","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:543","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the oral cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100649","HPO_Synonym__c":"Mouth neoplasm; Mouth tumor; Neoplasm of the mouth","HPO_Name__c":"Neoplasm of the oral cavity","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:543","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hemorrhage affecting the gastrointestinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002239","HPO_Synonym__c":"Gastrointestinal bleeding; GI hemorrhage","HPO_Name__c":"Gastrointestinal hemorrhage","Feature_System__c":"Cardiovascular System; Digestive System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:543","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Blockage or impairment of the normal flow of the contents of the intestine towards the anal canal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005214","HPO_Synonym__c":"Bowel obstruction; Intestinal blockage; Intestinal obstruction","HPO_Name__c":"Intestinal obstruction","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:543","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:543","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:543","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001732","HPO_Synonym__c":"Abnormality of the pancreas","HPO_Name__c":"Abnormality of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:543","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the ovary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000137","HPO_Synonym__c":"Abnormality of the ovaries; Abnormality of the ovary","HPO_Name__c":"Abnormality of the ovary","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:543","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly of the form or number of cells in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005561","HPO_Synonym__c":"Abnormality of bone marrow cell morphology; Anomaly of the bone marrow cells","HPO_Name__c":"Abnormal bone marrow cell morphology","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:543","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:543","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001743","HPO_Synonym__c":"Abnormality of the spleen","HPO_Name__c":"Abnormality of the spleen","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:543","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally high level of uric acid in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002149","HPO_Synonym__c":"High blood uric acid level; Hyperuricaemia","HPO_Name__c":"Hyperuricemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:543","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001392","HPO_Synonym__c":"Abnormal liver; Abnormality of the liver; Liver abnormality","HPO_Name__c":"Abnormality of the liver","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:543","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032218","HPO_Synonym__c":"CD4 T cell lymphopenia; Decreased helper T cell proportion; Decreased proportion circulating T-helper cells; Decreased proportion of CD4+ cells; Decreased proportion of CD4+ T cells; Decreased proportion of CD4-positive helper T cells; Decreased proportion of CD4-positive T cells; Decreased proportion of CD4-positive, alpha-beta T cells; Reduced helper T cell proportion; Reduced proportion of CD4-positive cells","HPO_Name__c":"Decreased CD4+ T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology","Pediatrics"],"Disease Category":["Cancer","Hematology"]},"synonyms":["bl"," bl - burkitt's lymphoma"," burkitt lymphoma, somatic"," burkitt lymphoma/leukemia"," burkitt's lymphoma"," burkitt's lymphoma - disorder"," burkitt's lymphoma (clinical)"," burkitt's tumor"," burkitt's tumor or lymphoma"," burkitt's tumour"," burkitt's tumour or lymphoma"," burkitt's type malignant lymphoma - small non-cleaved"," burkitt's type malignant lymphoma - undifferentiated"," malignant lymphoma, burkitt's type"," malignant lymphoma, small noncleaved, burkitt's, diffuse"," small non-cleaved cell lymphoma"," small non-cleaved cell lymphoma, burkitt's type"]}