{"orpha":700107,"name":"Sickle cell S-other specified hemoglobin variant","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HbS-other specified hemoglobin variant disease"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-700107/","orphanet_url":"https://www.orpha.net/en/disease/detail/700107","names":{"fr":{"name":"Drépanocytose S-autre variant spécifié d'hémoglobine"},"de":{"name":"Sichelzellkrankheit mit anderen Hämoglobinvarianten","synonyms":["HbS-andere näher bezeichnete Hämoglobinvariante"]},"es":{"name":"Anemia falciforme HbS-otra variante de hemoglobina especificada","synonyms":["Anemia de células falciformes HbS-otra variante de hemoglobina especificada","Enfermedad de Hbs-otra variante de hemoglonina especificada"]},"it":{"name":"Falcemia S-altra mutazione specifica dell'emoglobina","synonyms":["HbS-altra mutazione specifica dell'emoglobina"]},"nl":{"name":"Sikkelcelziekte door HbS-andere gespecifieerde hemoglobinevariant"},"pt":{"name":"Sickle cell S-other specified hemoglobin variant"},"pl":{"name":"Sickle cell S-other specified hemoglobin variant","synonyms":["HbS-other specified hemoglobin variant disease"]},"cs":{"name":"Sickle cell S-other specified hemoglobin variant","synonyms":["HbS-other specified hemoglobin variant disease"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":700085,"name":"Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant","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":"23388674[PMID]_34113458[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}