{"orpha":477811,"name":"Rare hypercholesterolemia","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"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-477811/","orphanet_url":"https://www.orpha.net/en/disease/detail/477811","names":{"fr":{"name":"Hypercholestérolémie rare"},"de":{"name":"Seltene Hypercholesterinämie"},"es":{"name":"Hipercolesterolemia rara"},"it":{"name":"Ipercolesterolemia rara"},"nl":{"name":"Zeldzame hypercholesterolemie"},"pt":{"name":"Hipercolesterolemia rara"},"pl":{"name":"Rzadka hipercholesterolemia"},"cs":{"name":"Vzácná hypercholesterolémie"},"uk":{"name":"Рідкісна гіперхолестеринемія"},"zh":{"name":"罕见高胆固醇血症"},"tr":{"name":"Nadir hiperkolesterolemi"}},"xrefs":[{"source":"MONDO","code":"18799","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681254","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181422,"name":"Rare hyperlipidemia","classifications":[150,156,193]}],"children":[{"orpha":468684,"name":"CCDC115-CDG","type":"Disease"},{"orpha":618891,"name":"Chronic neurovisceral acid sphingomyelinase deficiency","type":"Disease"},{"orpha":77293,"name":"Chronic visceral acid sphingomyelinase deficiency","type":"Disease"},{"orpha":391665,"name":"Homozygous familial hypercholesterolemia","type":"Disease"},{"orpha":209902,"name":"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency","type":"Disease"},{"orpha":466703,"name":"TMEM199-CDG","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}