{"orpha":618899,"name":"Acid sphingomyelinase deficiency","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":["ASMD"],"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-618899/","orphanet_url":"https://www.orpha.net/en/disease/detail/618899","names":{"fr":{"name":"Déficit en sphingomyélinase acide","synonyms":["ASMD"]},"de":{"name":"Saure Sphingomyelinase-Mangel","synonyms":["ASMD"]},"es":{"name":"Deficiencia de esfingomielinasa ácida","synonyms":["ASMD"]},"it":{"name":"Deficit di sfingomielinasi acida","synonyms":["ASMD"]},"nl":{"name":"Deficiëntie van zure sfingomyelinase","synonyms":["ASMD"]},"pt":{"name":"Deficiência de esfingomielinase ácida","synonyms":["ASMD"]},"pl":{"name":"Niedobór kwaśnej sfingomielinazy","synonyms":["ASMD"]},"cs":{"name":"Deficit kyselé sfingomyelinázy","synonyms":["ASMD"]},"uk":{"name":"Дефіцит кислої сфінгомієлінази","synonyms":["ASMD"]}},"xrefs":[{"source":"UMLS","code":"C5243927","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":264992,"name":"Genetic interstitial lung disease","classifications":[156]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]},{"orpha":264719,"name":"Secondary interstitial lung disease specific to childhood associated with a metabolic disease","classifications":[184,233]},{"orpha":79225,"name":"Sphingolipidosis","classifications":[150,156,233]}],"children":[{"orpha":618891,"name":"Chronic neurovisceral acid sphingomyelinase deficiency","type":"Disease"},{"orpha":77293,"name":"Chronic visceral acid sphingomyelinase deficiency","type":"Disease"},{"orpha":77292,"name":"Infantile neurovisceral acid sphingomyelinase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}