{"Name":"Familial thrombomodulin anomalies","DiseaseID__c":"GARD:0005195","id":5195,"encodedName":"familial-thrombomodulin-anomalies","IsDeleted":false,"Disease_Name_Full__c":"Familial thrombomodulin anomalies","Xref_IDs__c":"783256001; C2931365; C536900; MEDGEN:419059; MONDO:0018047; ORPHA:3324","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":3,"No_of_Age_at_Onset__c":0,"Description_Source__c":"ORPHA:3324","Disease_Description__c":"Familial thrombomodulin anomalies is a rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.","GARD_Name__c":"Familial thrombomodulin anomalies","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:3324","Curated_Disease_Description__c":"A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:3324","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018047","ORPHANET_ID__c":"ORPHA:3324","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anomalías familiares de la trombomodulina","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"anomalías familiares de la trombomodulina","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":"A rare, life-threatening, genetic coagulation disorder characterized by an increased risk of blood clot formation in several members of a family due to a thrombomodulin gene mutation. Patients may manifest with venous thromboembolic disease, premature myocardial infarction and/or arterial thrombosis.","Curated_Disease_Description_Source__c":"ORPHA:3324","Name":"Familial thrombomodulin anomalies","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=419059","Source__c":"C2931365","Xref__c":"MEDGEN:419059"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931365","Source__c":"C2931365","Xref__c":"C2931365"},{"URL__c":"https://www.orpha.net/en/disease/detail/3324","Source__c":"C2931365; MONDO:0018047; ORPHA:3324","Xref__c":"ORPHA:3324"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536900","Source__c":"MONDO:0018047","Xref__c":"C536900"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=783256001","Source__c":"C2931365","Xref__c":"783256001"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018047","Source__c":"GARD:0005195","Xref__c":"MONDO:0018047"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":[""]}