{"Name":"WT limb-blood syndrome","DiseaseID__c":"GARD:0000039","id":39,"encodedName":"wt-limb-blood-syndrome","IsDeleted":false,"Disease_Name_Full__c":"WT limb-blood syndrome","Xref_IDs__c":"719019000; C1327917; C536751; MEDGEN:231231; MONDO:0008688; OMIM:194350; ORPHA:3466","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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0008688","Disease_Description__c":"A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.","GARD_Name__c":"WT limb-blood syndrome","GARD_Synonym__c":"radial-ulnar hypoplasia with bone marrow failure and/or leukemia; wt limb blood syndrome; wtsyndrome","Curated_Disease_Description_Source__c":"MONDO:0008688","Curated_Disease_Description__c":"A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:3466","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008688","ORPHANET_ID__c":"ORPHA:3466","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome wt extremidades-sangre","Spanish_Description_Source__c":"ORPHA:3466","Spanish_Description__c":"Es una anemia aplásica constitucional poco frecuente caracterizada por grave anemia hipo/aplásica o pancitopenia asociada a anomalías esqueléticas (tales como defectos radio/cubitales y de las manos/dedos) y un mayor riesgo de desarrollar leucemia. No ha habido más casos descritos en la literatura desde 1995.","Spanish_Disease_Name__c":"síndrome wt extremidades-sangre","Spanish_GARD_Synonym__c":null,"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":"A rare constitutional aplastic anemia disorder characterized by severe hypo/aplastic anemia or pancytopenia associated with skeletal anomalies (such as radial/ulnar defects and hand/digit abnormalities) and an increased risk of leukemia. There have been no further descriptions in the literature since 1995.","Curated_Disease_Description_Source__c":"MONDO:0008688","GARD_Synonym__c":"radial-ulnar hypoplasia with bone marrow failure and/or leukemia; wt limb blood syndrome; wtsyndrome","Name":"WT limb-blood syndrome","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":"Childhood","Provided_By__c":"ORPHA:3466"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/3466","Source__c":"C1327917; MONDO:0008688; ORPHA:3466","Xref__c":"ORPHA:3466"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1327917","Source__c":"C1327917","Xref__c":"C1327917"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719019000","Source__c":"C1327917; MONDO:0008688","Xref__c":"719019000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=231231","Source__c":"C1327917","Xref__c":"MEDGEN:231231"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536751","Source__c":"MONDO:0008688","Xref__c":"C536751"},{"URL__c":"https://www.omim.org/entry/194350","Source__c":"C1327917; MONDO:0008688; ORPHA:3466","Xref__c":"OMIM:194350"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008688","Source__c":"GARD:0000039","Xref__c":"MONDO:0008688"}],"Inheritance__c":["Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology","Congenital Abnormality"],"Specialist":["Genetics","Hematology","Orthopedics","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["radial-ulnar hypoplasia with bone marrow failure and/or leukemia"," wt limb blood syndrome"," wtsyndrome"]}