{"orpha":715125,"name":"Hemoglobin E-beta-thalassemia intermedia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-715125/","orphanet_url":"https://www.orpha.net/en/disease/detail/715125","names":{"fr":{"name":"Hémoglobine E-bêta-thalassémie intermédiaire"},"de":{"name":"Hämoglobin E-Beta-Thalassämie intermedia"},"es":{"name":"Hemoglobina E-beta-talasemia intermedia"},"it":{"name":"Beta talassemia intermedia correlata all’emoglobina E"},"nl":{"name":"Hemoglobine E - bètathalassemie intermedia"},"pt":{"name":"Hemoglobin E-beta-thalassemia intermedia"},"pl":{"name":"Hemoglobina E-β-talasemia pośrednia"},"cs":{"name":"Hemoglobin E-beta-thalassemia intermedia"}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":231249,"name":"Hemoglobin E-beta-thalassemia syndrome","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":"21886666[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}