{"orpha":183634,"name":"Rare genetic parathyroid disease and phosphocalcic metabolism disorder","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-183634/","orphanet_url":"https://www.orpha.net/en/disease/detail/183634","names":{"fr":{"name":"Maladie parathyroïdienne rare et anomalie du métabolisme phosphocalcique d'origine génétique"},"de":{"name":"Nebenschilddrüsen- und Calcium/Phosphor-Stoffwechselkrankheiten, genetisch bedingte, seltene"},"es":{"name":"Enfermedad rara de la paratiroides y trastorno del metabolismo fosfocálcico de origen genético"},"it":{"name":"Malattia genetica rara delle paratiroidi con anomalie del metabolismo fosfocalcico"},"nl":{"name":"Zeldzame genetische bijschildklierziekte en fosfocalcaire stofwisselingsstoornis"},"pt":{"name":"Doença da paratiroide e do metabolismo fosfo-cálcio genética rara"},"pl":{"name":"Rare genetic parathyroid disease and phosphocalcic metabolism disorder"},"cs":{"name":"Vzácná dědičná onemocnění příštítných tělísek a fosfokalciového metabolismu"},"uk":{"name":"Рідкісне генетично обумовлене захворювання паращитовидної залози та порушення фосфокальцієвого обміну"},"zh":{"name":"罕见遗传性甲状旁腺疾病和钙磷代谢紊乱"},"tr":{"name":"Nadir genetik paratiroid hastalığı ve fosfokalsik metabolizma bozukluğu"}},"xrefs":[{"source":"MONDO","code":"15970","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680538","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":156638,"name":"Rare genetic endocrine disease","classifications":[156]}],"children":[{"orpha":300547,"name":"Autosomal recessive infantile hypercalcemia","type":"Disease"},{"orpha":289098,"name":"Disorders of vitamin D metabolism","type":"Category"},{"orpha":405,"name":"Familial hypocalciuric hypercalcemia","type":"Disease"},{"orpha":53715,"name":"Familial tumoral calcinosis","type":"Disease"},{"orpha":208596,"name":"Genetic hyperparathyroidism","type":"Category"},{"orpha":208593,"name":"Genetic hypoparathyroidism","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}