{"orpha":715157,"name":"Low oxygen affinity beta chain hemoglobin disease","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-715157/","orphanet_url":"https://www.orpha.net/en/disease/detail/715157","names":{"fr":{"name":"Anémie par hémoglobine hypoaffine bêta"},"de":{"name":"Beta-Ketten-Hämoglobin-Krankheit mit geringer Sauerstoffaffinität"},"es":{"name":"Enfermedad de la hemoglobina de cadena beta con baja afinidad por el oxígeno"},"it":{"name":"Emoglobinopatia con catena beta a bassa affinità per l'ossigeno"},"nl":{"name":"Aandoening door bèta-hemoglobine met lage affiniteit voor zuurstof"},"pt":{"name":"Low oxygen affinity beta chain hemoglobin disease"},"pl":{"name":"Hemoglobinopatia łańcucha beta z niskim powinowactwem do tlenu"},"cs":{"name":"Low oxygen affinity beta chain hemoglobin disease"}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":715147,"name":"Low oxygen affinity hemoglobin 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":"28066926[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}