{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","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-181387/","orphanet_url":"https://www.orpha.net/en/disease/detail/181387","names":{"fr":{"name":"Maladie rare avec atteinte multisystémique et hypogonadisme hypogonadotrope congénital"},"de":{"name":"Seltene Störung mit multisystemischer Beteiligung und kongenitalen hypogonadotropen Hypogonadismus","synonyms":["Seltene Störung mit sekundärem Hypogonadismus"]},"es":{"name":"Enfermedad rara con afectación multisistémica e hipogonadismo hipogonadotrópico congénito"},"it":{"name":"Disturbo raro con ipogonadismo ipogonadotropo","synonyms":["Disturbo raro con ipogonadismo secondario"]},"nl":{"name":"Zeldzame aandoening met multisystemische betrokkenheid en congenitaal hypogonadotroop hypogonadisme"},"pt":{"name":"Síndrome com hipogonadismo hipogonadotrópico"},"pl":{"name":"Rzadka choroba z hipogonadyzmem hipogonadotropowym","synonyms":["Rzadka choroba z hipogonadyzmem wtórnym"]},"cs":{"name":"Vzácná porucha s hypogonadotropním hypogonadismem","synonyms":["Vzácná porucha se sekundárním hypogonadismem"]},"uk":{"name":"Рідкісне захворювання з мультисистемним ураженням та вродженим гіпогонадотропним гіпогонадизмом"},"zh":{"name":"伴低促性腺素性功能减退的罕见病","synonyms":["伴继发性性腺机能减退的罕见病"]},"tr":{"name":"Hipogonadotropik hipogonadizm ile seyreden nadir bozukluk","synonyms":["Sekonder hipogonadizm ile seyreden nadir bozukluk"]}},"xrefs":[{"source":"MONDO","code":"15890","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680474","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":174590,"name":"Congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]}],"children":[{"orpha":157954,"name":"ANE syndrome","type":"Disease"},{"orpha":1180,"name":"Ataxia-hypogonadism-choroidal dystrophy syndrome","type":"Disease"},{"orpha":110,"name":"Bardet-Biedl syndrome","type":"Disease"},{"orpha":1295,"name":"Brachytelephalangy-dysmorphism-Kallmann syndrome","type":"Malformation syndrome"},{"orpha":138,"name":"CHARGE syndrome","type":"Malformation syndrome"},{"orpha":1387,"name":"Cataract-intellectual disability-hypogonadism syndrome","type":"Malformation syndrome"},{"orpha":1173,"name":"Cerebellar ataxia-hypogonadism syndrome","type":"Disease"},{"orpha":2230,"name":"Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome","type":"Disease"},{"orpha":2235,"name":"Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome","type":"Disease"},{"orpha":293967,"name":"Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome","type":"Malformation syndrome"},{"orpha":88637,"name":"Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome","type":"Clinical subtype"},{"orpha":2250,"name":"Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome","type":"Disease"},{"orpha":2326,"name":"Kallmann syndrome-heart disease syndrome","type":"Malformation syndrome"},{"orpha":2377,"name":"Laurence-Moon syndrome","type":"Malformation syndrome"},{"orpha":2560,"name":"Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome","type":"Malformation syndrome"},{"orpha":453533,"name":"Polyendocrine-polyneuropathy syndrome","type":"Disease"},{"orpha":739,"name":"Prader-Willi syndrome","type":"Disease"},{"orpha":398073,"name":"Prader-Willi-like syndrome","type":"Clinical group"},{"orpha":3464,"name":"Woodhouse-Sakati syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}