{"orpha":485382,"name":"Rare genetic premature ovarian failure","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-485382/","orphanet_url":"https://www.orpha.net/en/disease/detail/485382","names":{"fr":{"name":"Insuffisance ovarienne précoce génétique rare"},"de":{"name":"Seltene genetisch bedingte vorzeitige Ovarialinsuffizienz"},"es":{"name":"Fallo ovárico prematuro genético raro"},"it":{"name":"Insufficienza ovarica precoce genetica rara"},"nl":{"name":"Zeldzaam genetisch prematuur ovariumfalen","synonyms":["Zeldzaam genetisch prematuur ovarieel falen"]},"pt":{"name":"Falência ovárica prematura rara genética"},"pl":{"name":"Przedwczesne wygasanie czynności jajników uwarunkowane genetycznie","synonyms":["Rzadka, genetycznie uwarunkowana przedwczesna niewydolność jajników"]},"cs":{"name":"Geneticky podmíněné předčasné ovariální selhání"},"uk":{"name":"Рідкісна генетично обумовлена передчасна оваріальна недостатність"},"zh":{"name":"遗传性非获得性卵巢早衰"},"tr":{"name":"Genetik edinsel olmayan prematüre yumurtalık yetmezliği"}},"xrefs":[{"source":"UMLS","code":"C5925042","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":202940,"name":"Anomaly of puberty or/and menstrual cycle of genetic origin","classifications":[156]},{"orpha":156638,"name":"Rare genetic endocrine disease","classifications":[156]}],"children":[{"orpha":243,"name":"46,XX gonadal dysgenesis","type":"Malformation syndrome"},{"orpha":444048,"name":"46,XX ovarian dysgenesis-short stature syndrome","type":"Disease"},{"orpha":91,"name":"Aromatase deficiency","type":"Disease"},{"orpha":100,"name":"Ataxia-telangiectasia","type":"Disease"},{"orpha":572354,"name":"Blepharophimosis-ptosis-epicanthus inversus syndrome type 1","type":"Clinical subtype"},{"orpha":79239,"name":"Classic galactosemia","type":"Disease"},{"orpha":90793,"name":"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency","type":"Disease"},{"orpha":90790,"name":"Congenital lipoid adrenal hyperplasia due to STAR deficency","type":"Disease"},{"orpha":642691,"name":"Fragile X-associated primary ovarian insufficiency","type":"Disease"},{"orpha":436182,"name":"Microcephalic primordial dwarfism-insulin resistance syndrome","type":"Malformation syndrome"},{"orpha":75325,"name":"Osteosclerosis-ichthyosis-premature ovarian failure syndrome","type":"Disease"},{"orpha":2855,"name":"Perrault syndrome","type":"Disease"},{"orpha":9,"name":"Tetrasomy X syndrome","type":"Malformation syndrome"},{"orpha":3375,"name":"Trisomy X syndrome","type":"Malformation syndrome"},{"orpha":881,"name":"Turner syndrome","type":"Malformation syndrome"},{"orpha":96201,"name":"X small rings syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}