{"orpha":707789,"name":"Unstable alpha globin chain variant disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-707789/","orphanet_url":"https://www.orpha.net/en/disease/detail/707789","names":{"fr":{"name":"Anémie par hémoglobine instable due à la chaîne alpha globine"},"de":{"name":"Instabile Alpha-Globinketten-Variante"},"es":{"name":"Enfermedad por inestabilidad de la variante de la cadena de globina alfa inestable"},"it":{"name":"Malattia da variante instabile della catena dell’alfa globina"},"nl":{"name":"Ziektevariant door onstabiele alfaglobineketen"},"pt":{"name":"Unstable alpha globin chain variant disease"},"pl":{"name":"Choroba z niestabilnym wariantem łańcucha alfa-globiny"},"cs":{"name":"Unstable alpha globin chain variant disease"}},"xrefs":[{"source":"ICD-10","code":"D58.2","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":275745,"name":"Alpha-thalassemia and related disorders","classifications":[156,194,233]}],"children":[],"genes":[{"symbol":"HBA1","name":"hemoglobin subunit alpha 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28696843[PMID]","hgnc":"4823","ensembl":"ENSG00000206172","omim":"141800","loci":["16p13.3"]},{"symbol":"HBA2","name":"hemoglobin subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25212678[PMID]","hgnc":"4824","ensembl":"ENSG00000188536","omim":"141850","loci":["16p13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}