{"Name":"Isolated delta-storage pool disease","DiseaseID__c":"GARD:0020674","id":20674,"encodedName":"isolated-delta-storage-pool-disease","IsDeleted":false,"Disease_Name_Full__c":"Isolated delta-storage pool disease","Xref_IDs__c":"CN201837; MEDGEN:798295; MONDO:0016630; ORPHA:248340","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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0016630","Disease_Description__c":"Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.","GARD_Name__c":"Isolated delta-storage pool disease","GARD_Synonym__c":"isolated delta-spd; isolated dense-spd; isolated dense-storage pool disease","Curated_Disease_Description_Source__c":"MONDO:0016630","Curated_Disease_Description__c":"Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:248340","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016630","ORPHANET_ID__c":"ORPHA:248340","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de depósito delta aislada","Spanish_Description_Source__c":"ORPHA:248340","Spanish_Description__c":"Es una trombocitopenia constitucional aislada y poco frecuente, caracterizada por formación defectuosa y/o mal funcionamiento de gránulos densos de plaquetas, así como por melanosomas en las células de la piel. Da lugar a diferentes manifestaciones que varían desde sangrado leve y propensión a hematomas, hasta diátesis hemorrágica mucosa / cutánea moderada y complicaciones hemorrágicas postquirúrgicas.","Spanish_Disease_Name__c":"enfermedad de depósito delta aislada","Spanish_GARD_Synonym__c":"deficiencia de almacenamiento de los gránulos densos; delta-spd aislada","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":"Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.","Curated_Disease_Description_Source__c":"MONDO:0016630","GARD_Synonym__c":"isolated delta-spd; isolated dense-spd; isolated dense-storage pool disease","Name":"Isolated delta-storage pool disease","estimateUsa":""}],"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"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/248340","Source__c":"CN201837; MONDO:0016630","Xref__c":"ORPHA:248340"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016630","Source__c":"GARD:0020674","Xref__c":"MONDO:0016630"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/CN201837","Source__c":"CN201837","Xref__c":"CN201837"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=798295","Source__c":"CN201837","Xref__c":"MEDGEN:798295"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FLI1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/fli1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology"]},"synonyms":["isolated delta-spd"," isolated dense-spd"," isolated dense-storage pool disease"]}