{"orpha":715154,"name":"Low oxygen affinity alpha 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-715154/","orphanet_url":"https://www.orpha.net/en/disease/detail/715154","names":{"fr":{"name":"Anémie par hémoglobine hypoaffine alpha"},"de":{"name":"Alpha-Ketten-Hämoglobin-Krankheit mit geringer Sauerstoffaffinität"},"es":{"name":"Enfermedad de la hemoglobina de cadena alfa con baja afinidad por el oxígeno"},"it":{"name":"Emoglobinopatia con catena alfa a bassa affinità per l'ossigeno"},"nl":{"name":"Aandoening door alfa-hemoglobine met lage affiniteit voor zuurstof"},"pt":{"name":"Low oxygen affinity alpha chain hemoglobin disease"},"pl":{"name":"Hemoglobinopatia łańcucha alfa z niskim powinowactwem do tlenu"},"cs":{"name":"Low oxygen affinity alpha 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":"HBA2","name":"hemoglobin subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32411491[PMID]_11134494[PMID]","hgnc":"4824","ensembl":"ENSG00000188536","omim":"141850","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}