{"Name":"Hereditary thrombocytosis with transverse limb defect","DiseaseID__c":"GARD:0021487","id":21487,"encodedName":"hereditary-thrombocytosis-with-transverse-limb-defect","IsDeleted":false,"Disease_Name_Full__c":"Hereditary thrombocytosis with transverse limb defect","Xref_IDs__c":"C4749944; MEDGEN:1653707; MONDO:0018000; ORPHA:329319","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018000","Disease_Description__c":"Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.","GARD_Name__c":"Hereditary thrombocytosis with transverse limb defect","GARD_Synonym__c":"familial thrombocytosis with transverse limb defect; thrombocythemia with distal limb defect; thrombocythemia with distal limb defects","Curated_Disease_Description_Source__c":"MONDO:0018000","Curated_Disease_Description__c":"Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.","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:329319","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018000","ORPHANET_ID__c":"ORPHA:329319","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trombocitopenia con defectos distales de las extremidades","Spanish_Description_Source__c":"ORPHA:329319","Spanish_Description__c":"Es un síndrome genético poco frecuente con defectos por reducción de las extremidades caracterizado por trombocitosis, defectos transversales unilaterales de las extremidades (que van desde la ausencia de falanges hasta la ausencia de mano o antebrazo) y esplenomegalia.","Spanish_Disease_Name__c":"trombocitopenia con defectos distales de las extremidades","Spanish_GARD_Synonym__c":"trombocitosis familiar con un defecto trasversal de las extremidades","Category_Linearization__c":"ORPHA:93890","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":"Thrombocythemia with distal limb defects is a rare, genetic syndrome with limb reduction defects characterized by thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.","Curated_Disease_Description_Source__c":"MONDO:0018000","GARD_Synonym__c":"familial thrombocytosis with transverse limb defect; thrombocythemia with distal limb defect; thrombocythemia with distal limb defects","Name":"Hereditary thrombocytosis with transverse limb defect","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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:329319"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:329319"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749944","Source__c":"C4749944","Xref__c":"C4749944"},{"URL__c":"https://www.orpha.net/en/disease/detail/329319","Source__c":"C4749944; MONDO:0018000; ORPHA:329319","Xref__c":"ORPHA:329319"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1653707","Source__c":"C4749944","Xref__c":"MEDGEN:1653707"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018000","Source__c":"GARD:0021487","Xref__c":"MONDO:0018000"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771511005","Source__c":"C4749944","Xref__c":"771511005"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"THPO","GHR_URL__c":"https://medlineplus.gov/genetics/gene/thpo","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology","Congenital Abnormality"],"Specialist":["Genetics","Hematology","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["familial thrombocytosis with transverse limb defect"," thrombocythemia with distal limb defect"," thrombocythemia with distal limb defects"]}