{"Name":"White platelet syndrome","DiseaseID__c":"GARD:0009282","id":9282,"encodedName":"white-platelet-syndrome","IsDeleted":false,"Disease_Name_Full__c":"White platelet syndrome","Xref_IDs__c":"718553004; C2931293; C536702; MEDGEN:419379; MONDO:0018269; ORPHA:370131","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0018269","Disease_Description__c":"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.","GARD_Name__c":"White platelet syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0018269","Curated_Disease_Description__c":"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:370131","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018269","ORPHANET_ID__c":"ORPHA:370131","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de las plaquetas de white","Spanish_Description_Source__c":"ORPHA:370131","Spanish_Description__c":"Es un trastorno de los gránulos plaquetarios caracterizado por trombocitopenia, aumento del volumen plaquetario medio, disminución de la capacidad de respuesta de las plaquetas a los agentes agregantes y defectos significativos en la morfología ultraestructural de las plaquetas que provocan hemorragias y tiempos de sangrado prolongados.","Spanish_Disease_Name__c":"síndrome de las plaquetas de white","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":"White platelet syndrome (WPS) is is a platelet granule disorder characterized by thrombocytopenia, increased mean platelet volumes, decreased platelet responsiveness to aggregating agents, and significant defects in platelet ultrastructural morphology leading to prolonged bleeding times and bleeding.","Curated_Disease_Description_Source__c":"MONDO:0018269","Name":"White platelet syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"No data available","Provided_By__c":"ORPHA:370131"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/370131","Source__c":"C2931293; MONDO:0018269; ORPHA:370131","Xref__c":"ORPHA:370131"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419379","Source__c":"C2931293","Xref__c":"MEDGEN:419379"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536702","Source__c":"MONDO:0018269","Xref__c":"C536702"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718553004","Source__c":"C2931293; MONDO:0018269","Xref__c":"718553004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931293","Source__c":"C2931293","Xref__c":"C2931293"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018269","Source__c":"GARD:0009282","Xref__c":"MONDO:0018269"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":[""]}