{"Name":"Hemoglobin E/beta thalassemia disease","DiseaseID__c":"GARD:0020609","id":20609,"encodedName":"hemoglobin-ebeta-thalassemia-disease","IsDeleted":false,"Disease_Name_Full__c":"Hemoglobin E/beta thalassemia disease","Xref_IDs__c":"234392002; C0472777; MEDGEN:632783; MONDO:0016491; ORPHA:231249","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"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":7,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0016491","Disease_Description__c":"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia (see this term) that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia (see these terms).","GARD_Name__c":"Hemoglobin E/beta thalassemia disease","GARD_Synonym__c":"beta e thalassemia; double heterozygous for hb e and beta thalassemia; e-beta-thalassemia; hbe-beta-thalassemia syndrome; hemoglobin e-beta-thalassemia syndrome","Curated_Disease_Description_Source__c":"ORPHA:231249","Curated_Disease_Description__c":"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:231249","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016491","ORPHANET_ID__c":"ORPHA:231249","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hemoglobina e-beta-talasemia","Spanish_Description_Source__c":"ORPHA:231249","Spanish_Description__c":"La hemoglobina E - beta-talasemia (HbE - BT) es una forma de BT (ver este término) que cursa con un cuadro clínico que varía desde una situación idéntica a la de la BT mayor (BTM) a una forma leve de BT intermedia (BTI) (ver estos términos).","Spanish_Disease_Name__c":"síndrome de hemoglobina e-beta-talasemia","Spanish_GARD_Synonym__c":"e-beta-talasemia; síndrome de hbe-beta-talasemia","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":"Hemoglobin E - beta-thalassemia (HbE - BT) is a form of beta-thalassemia that results in a mild to severe clinical presentation ranging from a condition indistinguishable from beta-thalassemia major to a mild form of beta-thalassemia intermedia.","Curated_Disease_Description_Source__c":"ORPHA:231249","GARD_Synonym__c":"beta e thalassemia; double heterozygous for hb e and beta thalassemia; e-beta-thalassemia; hbe-beta-thalassemia syndrome; hemoglobin e-beta-thalassemia syndrome","Name":"Hemoglobin E/beta thalassemia disease","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Cooley's Anemia Foundation","Website__c":"https://www.thalassemia.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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:231249"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:231249"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:231249"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:231249"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0472777","Source__c":"C0472777","Xref__c":"C0472777"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=632783","Source__c":"C0472777","Xref__c":"MEDGEN:632783"},{"URL__c":"https://www.orpha.net/en/disease/detail/231249","Source__c":"C0472777; MONDO:0016491; ORPHA:231249","Xref__c":"ORPHA:231249"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016491","Source__c":"GARD:0020609","Xref__c":"MONDO:0016491"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234392002","Source__c":"C0472777","Xref__c":"234392002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HBB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hbb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:231249","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231249","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased concentration of ferritin in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003281","HPO_Synonym__c":"Elevated serum ferritin; High ferritin level; Hyperferritinaemia; Hyperferritinemia; Increased ferritin; Increased plasma ferritin; Increased serum ferritin level","HPO_Name__c":"Increased circulating ferritin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:231249","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Anomaly in the level or the function of hemoglobin, the oxygen-carrying protein of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011902","HPO_Synonym__c":"Abnormal Hb","HPO_Name__c":"Abnormal hemoglobin","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231249","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["beta e thalassemia"," double heterozygous for hb e and beta thalassemia"," e-beta-thalassemia"," hbe-beta-thalassemia syndrome"," hemoglobin e-beta-thalassemia syndrome"]}