{"Name":"Hemoglobin C-beta-thalassemia syndrome","DiseaseID__c":"GARD:0020608","id":20608,"encodedName":"hemoglobin-c-beta-thalassemia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Hemoglobin C-beta-thalassemia syndrome","Xref_IDs__c":"C0221020; MEDGEN:526128; MONDO:0016490; ORPHA:231242","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":6,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0016490","Disease_Description__c":"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia (see this term) resulting in moderate hemolytic anemia.","GARD_Name__c":"Hemoglobin C-beta-thalassemia syndrome","GARD_Synonym__c":"c-beta-thalassemia; hbc-beta-thalassemia syndrome; hemoglobin c-f disease; thalassemia-hemoglobin c disease","Curated_Disease_Description_Source__c":"ORPHA:231242","Curated_Disease_Description__c":"Hemoglobin C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.","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:231242","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016490","ORPHANET_ID__c":"ORPHA:231242","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hemoglobina c-beta-talasemia","Spanish_Description_Source__c":"ORPHA:231242","Spanish_Description__c":"La hemoglobina C - beta-talasemia (HBC - BT) es una forma de BT (ver este término) que da lugar a una anemia hemolítica leve o moderada.","Spanish_Disease_Name__c":"síndrome de hemoglobina c-beta-talasemia","Spanish_GARD_Synonym__c":"c-beta-talasemia; hbc-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 C - beta-thalassemia (HbC - BT) is a form of beta-thalassemia resulting in moderate hemolytic anemia.","Curated_Disease_Description_Source__c":"ORPHA:231242","GARD_Synonym__c":"c-beta-thalassemia; hbc-beta-thalassemia syndrome; hemoglobin c-f disease; thalassemia-hemoglobin c disease","Name":"Hemoglobin C-beta-thalassemia syndrome","estimateUsa":""}],"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":"Childhood","Provided_By__c":"ORPHA:231242"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:231242"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:231242"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:231242"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=526128","Source__c":"C0221020","Xref__c":"MEDGEN:526128"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0221020","Source__c":"C0221020","Xref__c":"C0221020"},{"URL__c":"https://www.orpha.net/en/disease/detail/231242","Source__c":"C0221020; MONDO:0016490; ORPHA:231242","Xref__c":"ORPHA:231242"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=61777009","Source__c":"C0221020","Xref__c":"61777009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016490","Source__c":"GARD:0020608","Xref__c":"MONDO:0016490"}],"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:231242","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of anemia in which the volume of the red blood cells is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001935","HPO_Name__c":"Microcytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:231242","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:231242","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:231242","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["c-beta-thalassemia"," hbc-beta-thalassemia syndrome"," hemoglobin c-f disease"," thalassemia-hemoglobin c disease"]}