{"orpha":699822,"name":"Sickle cell S-Lepore disease","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["HbS-Lepore disease","Hemoglobin S-Lepore disease"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-699822/","orphanet_url":"https://www.orpha.net/en/disease/detail/699822","names":{"fr":{"name":"Drépanocytose S-Lepore","synonyms":["Hémoglobinose S-Lepore"]},"de":{"name":"Sichelzellkrankheit S-Lepore","synonyms":["HbSLepore","Hämoglobin S-Lepore","SCD-S/Lepore"]},"es":{"name":"Enfermedad falciforme S-Lepore","synonyms":["Enfermedad de HbS-Lepore","Enfermedad de células falciformes S-Lepore","Enfermedad de la hemoglobina S-Lepore"]},"it":{"name":"Falcemia S-Lepore","synonyms":["Malattia HbS-Lepore","Emoglobinopatia S-Lepore"]},"nl":{"name":"Sikkelcel S-Lepore-ziekte","synonyms":["HbS-Lepore-ziekte","Hemoglobine S-Lepore-ziekte"]},"pt":{"name":"Sickle cell S-Lepore disease"},"pl":{"name":"Sickle cell S-Lepore disease","synonyms":["HbS-Lepore disease","Hemoglobin S-Lepore disease"]},"cs":{"name":"Sickle cell S-Lepore disease","synonyms":["HbS-Lepore disease","Hemoglobin S-Lepore 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":"34334973[PMID]_20022270[PMID]","hgnc":"4827","ensembl":"ENSG00000244734","omim":"141900","loci":["11p15.4"]},{"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"]}],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}