{"Name":"Medich giant platelet syndrome","DiseaseID__c":"GARD:0021598","id":21598,"encodedName":"medich-giant-platelet-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Medich giant platelet syndrome","Xref_IDs__c":"718554005; C4305375; MEDGEN:931044; MONDO:0018268; ORPHA:370127","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":2,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018268","Disease_Description__c":"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.","GARD_Name__c":"Medich giant platelet syndrome","GARD_Synonym__c":"medich macrothrombocytopenia","Curated_Disease_Description_Source__c":"MONDO:0018268","Curated_Disease_Description__c":"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:370127","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018268","ORPHANET_ID__c":"ORPHA:370127","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de plaquetas gigantes de medich","Spanish_Description_Source__c":"ORPHA:370127","Spanish_Description__c":"Es un trastorno de los gránulos plaquetarios caracterizado por trombocitopenia con plaquetas gigantes que provocan sangrado fácil.","Spanish_Disease_Name__c":"síndrome de plaquetas gigantes de medich","Spanish_GARD_Synonym__c":"macrotrombocitopenia de medich","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":"Medich giant platelet syndrome (MGPS) is a platelet granule disorder characterized by thrombocytopenia with giant platelets resulting in easy bleeding.","Curated_Disease_Description_Source__c":"MONDO:0018268","GARD_Synonym__c":"medich macrothrombocytopenia","Name":"Medich giant platelet syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Infancy","Provided_By__c":"ORPHA:370127"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:370127"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4305375","Source__c":"C4305375","Xref__c":"C4305375"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=931044","Source__c":"C4305375","Xref__c":"MEDGEN:931044"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718554005","Source__c":"C4305375; MONDO:0018268","Xref__c":"718554005"},{"URL__c":"https://www.orpha.net/en/disease/detail/370127","Source__c":"C4305375; MONDO:0018268; ORPHA:370127","Xref__c":"ORPHA:370127"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018268","Source__c":"GARD:0021598","Xref__c":"MONDO:0018268"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["medich macrothrombocytopenia"]}