{"Name":"Delta-beta-thalassemia","DiseaseID__c":"GARD:0017165","id":17165,"encodedName":"delta-beta-thalassemia","IsDeleted":false,"Disease_Name_Full__c":"Delta-beta-thalassemia","Xref_IDs__c":"16360009; C0271985; C172823; C562716; D56.2; DOID:0080773; MEDGEN:78790; MONDO:0016489; ORPHA:231237","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":2,"Description_Source__c":"MONDO:0016489","Disease_Description__c":"Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.","GARD_Name__c":"Delta-beta-thalassemia","GARD_Synonym__c":"delta beta thalassemia; delta-beta thalassemia; f thalassemia","Curated_Disease_Description_Source__c":"ORPHA:231237","Curated_Disease_Description__c":"Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:231237","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016489","ORPHANET_ID__c":"ORPHA:231237","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Delta-beta-talasemia","Spanish_Description_Source__c":"ORPHA:231237","Spanish_Description__c":"La delta-beta-talasemia es una forma de BT (ver este término) caracterizada por una disminución o ausencia de síntesis de las cadenas de delta y beta globina con un aumento compensador de la síntesis de las cadenas gamma.","Spanish_Disease_Name__c":"delta-beta-talasemia","Spanish_GARD_Synonym__c":null,"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":"Delta-beta-thalassemia is a form of beta-thalassemia characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.","Curated_Disease_Description_Source__c":"ORPHA:231237","GARD_Synonym__c":"delta beta thalassemia; delta-beta thalassemia; f thalassemia","Name":"Delta-beta-thalassemia","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":"Neonatal","Provided_By__c":"ORPHA:231237"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:231237"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=78790","Source__c":"C0271985","Xref__c":"MEDGEN:78790"},{"URL__c":"https://www.orpha.net/en/disease/detail/231237","Source__c":"C0271985; MONDO:0016489; ORPHA:231237","Xref__c":"ORPHA:231237"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C172823","Source__c":"C0271985; MONDO:0016489","Xref__c":"C172823"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=16360009","Source__c":"C0271985; MONDO:0016489","Xref__c":"16360009"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0271985","Source__c":"C0271985","Xref__c":"C0271985"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C562716","Source__c":"MONDO:0016489","Xref__c":"C562716"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/D56.2","Source__c":"MONDO:0016489","Xref__c":"D56.2"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080773","Source__c":"MONDO:0016489","Xref__c":"DOID:0080773"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016489","Source__c":"GARD:0017165","Xref__c":"MONDO:0016489"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HBG1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HBB","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hbb","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HBD","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:231237","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:231237","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:231237","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Hematology"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["delta beta thalassemia"," delta-beta thalassemia"," f thalassemia"]}