{"orpha":309778,"name":"Defect in V-ATPase","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-309778/","orphanet_url":"https://www.orpha.net/en/disease/detail/309778","names":{"fr":{"name":"Anomalie de la V-ATPase"},"de":{"name":"V-ATPase-Defekt"},"es":{"name":"Defecto de la V-ATPasa"},"it":{"name":"Difetto di V-ATPasi"},"nl":{"name":"Defect in V-ATPase"},"pt":{"name":"Defeito na V-ATPase"},"pl":{"name":"Defekt V-ATP-azy"},"cs":{"name":"Defekty V-ATPázy"},"uk":{"name":"Дефект V-АТФази"},"zh":{"name":"V-ATP酶缺陷"},"tr":{"name":"V-ATPaz defekti"}},"xrefs":[{"source":"MONDO","code":"0017752","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17752","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681038","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309526,"name":"Disorder of multiple glycosylation","classifications":[150,156]}],"children":[{"orpha":692790,"name":"ATP6AP1-CDG","type":"Disease"},{"orpha":357058,"name":"Autosomal recessive cutis laxa type 2A","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}