{"Name":"Pseudo von Willebrand disease","DiseaseID__c":"GARD:0008312","id":8312,"encodedName":"pseudo-von-willebrand-disease","IsDeleted":false,"Disease_Name_Full__c":"Pseudo von Willebrand disease","Xref_IDs__c":"128115005; C1280798; C131681; C536458; DOID:0111056; MEDGEN:226914; MONDO:0008332; OMIM:177820; ORPHA:52530","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":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008332","Disease_Description__c":"A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.","GARD_Name__c":"Pseudo von Willebrand disease","GARD_Synonym__c":"bdplt3; bleeding disorder, platelet-type, 3; platelet type pseudo-von willebrand disease; platelet type-von willebrand disease; platelet-type von willebrand disease; pseudo-von willebrand disease; pseudo-von willebrand disease type 2b; pt-vwd; pt-vwd - platelet type-von willebrand disease; von willebrand disease platelet-type; vwdp","Curated_Disease_Description_Source__c":"MONDO:0008332","Curated_Disease_Description__c":"A bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:52530","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008332","ORPHANET_ID__c":"ORPHA:52530","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de pseudo-von willebrand","Spanish_Description_Source__c":"ORPHA:52530","Spanish_Description__c":"Es un trastorno hemorrágico caracterizado por hemorragia mucocutánea de leve a moderada, que se acentúa durante el periodo de gestación o por ingestión de fármacos con actividad antiplaquetaria. La enfermedad es debida a la hiperreactividad de las plaquetas, lo que provoca trombocitopenia.","Spanish_Disease_Name__c":"enfermedad de pseudo-von willebrand","Spanish_GARD_Synonym__c":"enfermedad de pseudo-von willebrand tipo 2b; enfermedad de von willebrand tipo plaquetario; pt-vwd","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 bleeding disorder characterized by mild to moderate mucocutaneous bleeding, which becomes more pronounced during pregnancy or following ingestion of drugs that have anti-platelet activity. This disease is due to hyperresponsive platelets, resulting in thrombocytopenia.","Curated_Disease_Description_Source__c":"MONDO:0008332","GARD_Synonym__c":"bdplt3; bleeding disorder, platelet-type, 3; platelet type pseudo-von willebrand disease; platelet type-von willebrand disease; platelet-type von willebrand disease; pseudo-von willebrand disease; pseudo-von willebrand disease type 2b; pt-vwd; pt-vwd - platelet type-von willebrand disease; von willebrand disease platelet-type; vwdp","Name":"Pseudo von Willebrand disease","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":"Adult","Provided_By__c":"ORPHA:52530"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0008312","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=226914","Source__c":"C1280798","Xref__c":"MEDGEN:226914"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1280798","Source__c":"C1280798","Xref__c":"C1280798"},{"URL__c":"https://www.omim.org/entry/177820","Source__c":"C1280798; MONDO:0008332; ORPHA:52530","Xref__c":"OMIM:177820"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536458","Source__c":"MONDO:0008332","Xref__c":"C536458"},{"URL__c":"https://www.orpha.net/en/disease/detail/52530","Source__c":"C1280798; MONDO:0008332; ORPHA:52530","Xref__c":"ORPHA:52530"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111056","Source__c":"MONDO:0008332","Xref__c":"DOID:0111056"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C131681","Source__c":"C1280798; MONDO:0008332","Xref__c":"C131681"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008332","Source__c":"GARD:0008312","Xref__c":"MONDO:0008332"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128115005","Source__c":"C1280798","Xref__c":"128115005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GP1BA","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gp1ba","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:177820","Feature__r":{"HPO_Description__c":"Reduced platelet count that occurs sporadically, i.e., it comes and goes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004854","HPO_Name__c":"Intermittent thrombocytopenia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:177820","Feature__r":{"HPO_Description__c":"Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003010","HPO_Synonym__c":"Increased bleeding time; Prolonged bleeding time","HPO_Name__c":"Prolonged bleeding time","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":["bdplt3"," bleeding disorder, platelet-type, 3"," platelet type pseudo-von willebrand disease"," platelet type-von willebrand disease"," platelet-type von willebrand disease"," pseudo-von willebrand disease"," pseudo-von willebrand disease type 2b"," pt-vwd"," pt-vwd - platelet type-von willebrand disease"," von willebrand disease platelet-type"," vwdp"]}