{"orpha":700085,"name":"Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sickle cell disease due to HbS and a non-HbS/non-HbC variant"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-700085/","orphanet_url":"https://www.orpha.net/en/disease/detail/700085","names":{"fr":{"name":"Drépanocytose due à l'hémoglobine S et à un variant de l'hémoglobine non-S et non-C","synonyms":["Drépanocytose due à l'HbS et à un variant non-HbS/non-HbC"]},"de":{"name":"Sichelzellkrankheit durch Hämoglobin S und eine Nicht-S/Nicht-C-Hämoglobinvariante","synonyms":["Sichelzellkrankheit durch HbS und eine non-HbS/non-HbC-Variante"]},"es":{"name":"Enfermedad falciforme por hemoglobina S y por una variante de hemoglobina no S/no C","synonyms":["Anemia de células falciformes por HbS y una variante no HbS/no HbC","Anemia de células falciformes por hemoglobina S y por una variante de hemoglobina no S/no C","Anemia falciforme por HbS y una variante no HbS/no HbC"]},"it":{"name":"Anemia a cellule falciformi correlata all'emoglobina S e ad una mutazione dell'emoglobina non-S/non-C","synonyms":["Anemia a cellule falciformi correlata a HbS e ad una mutazione non-HbS/non-HbC"]},"nl":{"name":"Sikkelcelziekte door hemoglobine S en een niet-S/niet-C hemoglobinevariant","synonyms":["Sikkelcelziekte door HbS en een niet-HbS/niet-HbC-variant"]},"pt":{"name":"Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant"},"pl":{"name":"Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant","synonyms":["Sickle cell disease due to HbS and a non-HbS/non-HbC variant"]},"cs":{"name":"Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant","synonyms":["Sickle cell disease due to HbS and a non-HbS/non-HbC variant"]}},"xrefs":[{"source":"ICD-10","code":"D57.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3A51.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":275752,"name":"Sickle cell disease","classifications":[156,194,233]}],"children":[{"orpha":251370,"name":"Sickle cell S-D Punjab disease","type":"Clinical subtype"},{"orpha":251375,"name":"Sickle cell S-E disease","type":"Clinical subtype"},{"orpha":699822,"name":"Sickle cell S-Lepore disease","type":"Clinical subtype"},{"orpha":700090,"name":"Sickle cell S-O Arab disease","type":"Clinical subtype"},{"orpha":700107,"name":"Sickle cell S-other specified hemoglobin variant","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301551[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"],"via":{"orpha":251370,"name":"Sickle cell S-D Punjab disease"}},{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301551[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"],"via":{"orpha":251375,"name":"Sickle cell S-E disease"}},{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34334973[PMID]_20022270[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"],"via":{"orpha":699822,"name":"Sickle cell S-Lepore disease"}},{"symbol":"HBB","name":"hemoglobin subunit beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32595482[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"],"via":{"orpha":700090,"name":"Sickle cell S-O Arab disease"}},{"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"],"via":{"orpha":700107,"name":"Sickle cell S-other specified hemoglobin variant"}},{"symbol":"HBD","name":"hemoglobin subunit delta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34334973[PMID]_20022270[PMID]","hgnc":"4829","ensembl":"ENSG00000223609","omim":"142000","loci":["11p15.4"],"via":{"orpha":699822,"name":"Sickle cell S-Lepore disease"}}],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}