{"orpha":202940,"name":"Anomaly of puberty or/and menstrual cycle of genetic origin","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-202940/","orphanet_url":"https://www.orpha.net/en/disease/detail/202940","names":{"fr":{"name":"Anomalie du cycle menstruel et/ou de la puberté d'origine génétique"},"de":{"name":"Genetisch bedingte Störungen der Pubertät und/oder der Menstruation"},"es":{"name":"Anomalía de la pubertad y/o del ciclo menstrual de origen genético"},"it":{"name":"Anomalia della pubertà e/o del ciclo mestruale di origine genetica"},"nl":{"name":"Anomalie van puberteit of/en menstruatiecyclus van genetische oorsprong"},"pt":{"name":"Anomalia da puberdade e/ou do ciclo menstrual de origem genética"},"pl":{"name":"Zaburzenia dojrzewania lub(i) cyklu menstruacyjnego pochodzenia genetycznego"},"cs":{"name":"Anomálie puberty nebo/a menstruačního cyklu genetického původu"},"uk":{"name":"Генетично обумовлені аномалії статевого дозрівання та/або менструального циклу"},"zh":{"name":"遗传性青春期或/和月经周期异常"},"tr":{"name":"Ergenlik anomalisi ve/veya genetik kökenli menstrüel döngü"}},"xrefs":[{"source":"MONDO","code":"16072","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680789","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":96344,"name":"Rare gynecologic or obstetric disease"},"parents":[{"orpha":183731,"name":"Rare genetic gynecological and obstetrical diseases","classifications":[156]}],"children":[{"orpha":174590,"name":"Congenital hypogonadotropic hypogonadism","type":"Category"},{"orpha":785,"name":"Estrogen resistance syndrome","type":"Disease"},{"orpha":435564,"name":"Genetic precocious puberty in female","type":"Category"},{"orpha":168588,"name":"Hyperandrogenism due to cortisone reductase deficiency","type":"Malformation syndrome"},{"orpha":485382,"name":"Rare genetic premature ovarian failure","type":"Category"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}