{"orpha":707792,"name":"Unstable gamma globin chain variant disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-707792/","orphanet_url":"https://www.orpha.net/en/disease/detail/707792","names":{"fr":{"name":"Anémie par hémoglobine instable due à la chaîne gamma globine"},"de":{"name":"Instabile Gamma-Globinketten-Variante"},"es":{"name":"Enfermedad por inestabilidad de la variante de la cadena de globina gamma inestable"},"it":{"name":"Malattia da variante instabile della catena della gamma globina"},"nl":{"name":"Ziektevariant door onstabiele gammaglobineketen"},"pt":{"name":"Unstable gamma globin chain variant disease"},"pl":{"name":"Choroba z niestabilnym wariantem łańcucha gamma-globiny"},"cs":{"name":"Unstable gamma 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":466066,"name":"Genetic hemoglobinopathy","classifications":[156]},{"orpha":68364,"name":"Hemoglobinopathy","classifications":[194,233]}],"children":[],"genes":[{"symbol":"HBG2","name":"hemoglobin subunit gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24483321[PMID]_31985299[PMID]","hgnc":"4832","ensembl":"ENSG00000196565","omim":"142250","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}