{"orpha":695140,"name":"Sickle cell-beta zero-thalassemia","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HbS-beta zero-thalassemia","HbS-beta0 thalassemia"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-695140/","orphanet_url":"https://www.orpha.net/en/disease/detail/695140","names":{"fr":{"name":"Drépanocytose-bêta zéro-thalassémie","synonyms":["HbS-bêta zéro-thalassémie","HbS-bêta0 thalassémie"]},"de":{"name":"Sichelzell-Beta-Null-Thalassämie","synonyms":["Hb-S-beta-0-Thalassämie"]},"es":{"name":"Talasemia falciforme beta-cero","synonyms":["Talasemia HbS beta-cero","Talasemia HbS beta0","Talasemia de células falciformes beta-cero"]},"it":{"name":"Anemia a cellule falciformi-beta zero-talassemia","synonyms":["HbS-beta zero-talassemia","Talassemia HbS-beta0"]},"nl":{"name":"Sikkelcel-bèta nul-thalassemie","synonyms":["HbS-bèta nul-thalassemie","HbS-bèta0-thalassemie"]},"pt":{"name":"HbS-beta-zero-thalassemia"},"pl":{"name":"Sickle cell-beta zero-thalassemia","synonyms":["HbS-beta zero-thalassemia","HbS-beta0 thalassemia"]},"cs":{"name":"Sickle cell-beta zero-thalassemia","synonyms":["HbS-beta zero-thalassemia","HbS-beta0 thalassemia"]}},"xrefs":[{"source":"ICD-10","code":"D57.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A51.3","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":251359,"name":"Sickle cell-beta-thalassemia disease","classifications":[156,194,233]}],"children":[],"genes":[{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21250876[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}