{"Name":"Macrothrombocytopenia with mitral valve insufficiency","DiseaseID__c":"GARD:0020538","id":20538,"encodedName":"macrothrombocytopenia-with-mitral-valve-insufficiency","IsDeleted":false,"Disease_Name_Full__c":"Marcothrombocytopenia with mitral valve insufficiency","Xref_IDs__c":"C4749648; MEDGEN:1649052; MONDO:0016360; ORPHA:220448","USA_Estimate__c":"1,000","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":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0016360","Disease_Description__c":"Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.","GARD_Name__c":"Macrothrombocytopenia with mitral valve insufficiency","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0016360","Curated_Disease_Description__c":"Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:220448","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016360","ORPHANET_ID__c":"ORPHA:220448","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Macrotrombocitopenia con insuficiencia mitral","Spanish_Description_Source__c":"ORPHA:220448","Spanish_Description__c":"La macrotrombocitopenia con insuficiencia de la válvula mitral es un trastorno hemorrágico poco frecuente debido a una anomalía plaquetaria. Está caracterizada por plaquetas disfuncionales de tamaño anormalmente grande, trombocitopenia moderada, tiempo de sangrado prolongado y leve diátesis de sangrado (equimosis y epistaxis), asociadas a insuficiencia de la válvula mitral.","Spanish_Disease_Name__c":"macrotrombocitopenia con insuficiencia mitral","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:97992","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":"Macrothrombocytopenia with mitral valve insufficiency is a rare hemorrhagic disorder due to a platelet anomaly characterized by dysfunctional platelets of abnormally large size, moderate thrombocytopenia, prolonged bleeding time and mild bleeding diathesis (ecchymoses and epistaxis), associated with mitral valve insufficiency.","Curated_Disease_Description_Source__c":"MONDO:0016360","Name":"Marcothrombocytopenia with mitral valve insufficiency","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Platelet Disorder Support Association","Website__c":"https://www.pdsa.org/"},{"Account_Name__c":"National Bleeding Disorders Foundation","Website__c":"https://www.bleeding.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Childhood","Provided_By__c":"ORPHA:220448"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749648","Source__c":"C4749648","Xref__c":"C4749648"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1649052","Source__c":"C4749648","Xref__c":"MEDGEN:1649052"},{"URL__c":"https://www.orpha.net/en/disease/detail/220448","Source__c":"C4749648; MONDO:0016360; ORPHA:220448","Xref__c":"ORPHA:220448"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016360","Source__c":"GARD:0020538","Xref__c":"MONDO:0016360"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771075004","Source__c":"C4749648","Xref__c":"771075004"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":[""]}