{"Name":"Primary effusion lymphoma","DiseaseID__c":"GARD:0009247","id":9247,"encodedName":"primary-effusion-lymphoma","IsDeleted":false,"Disease_Name_Full__c":"Primary effusion lymphoma","Xref_IDs__c":"128800006; 423022645; 713516007; C1292753; C6915; D054685; MEDGEN:220953; MONDO:0018842; ORPHA:48686","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018842","Disease_Description__c":"Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).","GARD_Name__c":"Primary effusion lymphoma","GARD_Synonym__c":"body cavity-based lymphoma; pel","Curated_Disease_Description_Source__c":"MONDO:0018842","Curated_Disease_Description__c":"Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:48686","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018842","ORPHANET_ID__c":"ORPHA:48686","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Linfoma primario de efusiones","Spanish_Description_Source__c":"ORPHA:48686","Spanish_Description__c":"El linfoma primario de cavidades (LEP) es un linfoma de células B grandes localizado en las cavidades corporales, caracterizado por derrame linfomatoso pleural, peritoneal y pericárdico, y siempre está asociado con el virus herpes humano 8 (HHV-8).","Spanish_Disease_Name__c":"linfoma primario de efusiones","Spanish_GARD_Synonym__c":"linfoma primario de cavidades; pel","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":"Primary effusion lymphoma (PEL) is a large B-cell lymphoma located in the body cavities, characterized by pleural, peritoneal, and pericardial fluid lymphomatous effusions and that is always associated with human herpes virus-8 (HHV-8).","Curated_Disease_Description_Source__c":"MONDO:0018842","GARD_Synonym__c":"body cavity-based lymphoma; pel","Name":"Primary effusion lymphoma","estimateUsa":""}],"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:48686"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1292753","Source__c":"C1292753","Xref__c":"C1292753"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C054685","Source__c":"C1292753; MONDO:0018842","Xref__c":"D054685"},{"URL__c":"https://www.orpha.net/en/disease/detail/48686","Source__c":"C1292753; MONDO:0018842; ORPHA:48686","Xref__c":"ORPHA:48686"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C6915","Source__c":"C1292753; MONDO:0018842","Xref__c":"C6915"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=220953","Source__c":"C1292753","Xref__c":"MEDGEN:220953"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=713516007","Source__c":"C1292753; MONDO:0018842","Xref__c":"713516007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018842","Source__c":"GARD:0009247","Xref__c":"MONDO:0018842"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128800006","Source__c":"C1292753","Xref__c":"128800006"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022645","Xref__c":"423022645"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:48686","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48686","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of lymphoma that originates in B-cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012191","HPO_Synonym__c":"B cell lymphoma","HPO_Name__c":"B-cell lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48686","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of an excessive amount of fluid in the pleural cavity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002202","HPO_Synonym__c":"Fluid around lungs","HPO_Name__c":"Pleural effusion","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48686","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the peritoneum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002585","HPO_Synonym__c":"Abnormality of the peritoneum","HPO_Name__c":"Abnormal peritoneum morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48686","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accumulation of fluid within the pericardium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001698","HPO_Synonym__c":"Fluid around heart; Pericardial effusions","HPO_Name__c":"Pericardial effusion","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48686","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distention of the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003270","HPO_Synonym__c":"Abdominal bloating; Abdominal distension; Abdominal swelling; Belly bloating; Bloating; Distended abdomen","HPO_Name__c":"Abdominal distention","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:48686","HPO_Frequency__c":"Very frequent (80-99%)","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:48686","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002094","HPO_Synonym__c":"Abnormal breathing; Breathing difficulty; Difficult to breathe; Difficulty breathing; Shortness of breath; Trouble breathing","HPO_Name__c":"Dyspnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Hematology"],"Disease Category":["Cancer","Hematology"]},"synonyms":["body cavity-based lymphoma"," pel"]}