{"orpha":98365,"name":"Hereditary stomatocytosis","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["Hereditary stomatocytic disease"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-98365/","orphanet_url":"https://www.orpha.net/en/disease/detail/98365","names":{"fr":{"name":"Stomatocytose héréditaire","synonyms":["Maladie stomatocytique héréditaire"]},"de":{"name":"Stomatozytose, hereditäre","synonyms":["Hereditäre stomatozytische Krankheit"]},"es":{"name":"Estomatocitosis hereditaria","synonyms":["Enfermedad estomatocítica hereditaria"]},"it":{"name":"Stomatocitosi ereditaria","synonyms":["Malattia stomatocitica ereditaria"]},"nl":{"name":"Erfelijke stomatocytose","synonyms":["Erfelijke stomatocytische ziekte"]},"pt":{"name":"Estomatocitose"},"pl":{"name":"Stomatocytoza dziedziczna","synonyms":["Dziedziczna choroba stomatocytowa"]},"cs":{"name":"Hereditární stomatocytózy","synonyms":["Hereditární stomatocytické nemoci"]},"uk":{"name":"Спадковий стоматоцитоз","synonyms":["Спадкове стоматоцитарне захворювання"]},"zh":{"name":"遗传性口形细胞增多症","synonyms":["遗传性口形细胞增多病"]},"tr":{"name":"Kalıtsal stomatositoz","synonyms":["Kalıtsal stomatositik hastalık"]}},"xrefs":[{"source":"ICD-11","code":"3A10.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2067120097"},{"source":"MONDO","code":"0020102","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1262483","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10053589","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":99134,"name":"OBSOLETE: Intermediate stomatocytosis syndrome","status":"inactive"}],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98364,"name":"Rare constitutional hemolytic anemia due to a red cell membrane anomaly","classifications":[156,194]}],"children":[{"orpha":3202,"name":"Dehydrated hereditary stomatocytosis","type":"Disease"},{"orpha":90044,"name":"Familial pseudohyperkalemia","type":"Disease"},{"orpha":398088,"name":"Hereditary cryohydrocytosis with normal stomatin","type":"Disease"},{"orpha":168577,"name":"Hereditary cryohydrocytosis with reduced stomatin","type":"Disease"},{"orpha":3203,"name":"Overhydrated hereditary stomatocytosis","type":"Disease"},{"orpha":71275,"name":"Rh deficiency syndrome","type":"Disease"},{"orpha":98868,"name":"Southeast Asian ovalocytosis","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}