{"orpha":177107,"name":"Syndromic hypothyroidism","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-177107/","orphanet_url":"https://www.orpha.net/en/disease/detail/177107","names":{"fr":{"name":"Hypothyroïdie syndromique"},"de":{"name":"Hypothyreose, syndromale"},"es":{"name":"Hipotiroidismo sindrómico"},"it":{"name":"Ipotiroidismo sindromico"},"nl":{"name":"Syndromale hypothyreoïdie"},"pt":{"name":"Hipotiroidismo sindromático"},"pl":{"name":"Syndromiczna niedoczynność przytarczyc"},"cs":{"name":"Syndromická hypotyreóza"},"uk":{"name":"Синдромний гіпотиреоз"},"zh":{"name":"综合征性甲状腺功能减退症"},"tr":{"name":"Sendromik hipotiroidi"}},"xrefs":[{"source":"MONDO","code":"15778","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680512","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":226292,"name":"Permanent congenital hypothyroidism","classifications":[156,193]}],"children":[{"orpha":1226,"name":"Bamforth-Lazarus syndrome","type":"Malformation syndrome"},{"orpha":3047,"name":"Blepharophimosis-intellectual disability syndrome, SBBYS type","type":"Malformation syndrome"},{"orpha":597746,"name":"Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome","type":"Malformation syndrome"},{"orpha":209905,"name":"Brain-lung-thyroid syndrome","type":"Disease"},{"orpha":589856,"name":"Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome","type":"Malformation syndrome"},{"orpha":1882,"name":"Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome","type":"Malformation syndrome"},{"orpha":456312,"name":"Infantile multisystem neurologic-endocrine-pancreatic disease","type":"Disease"},{"orpha":2315,"name":"Johanson-Blizzard syndrome","type":"Malformation syndrome"},{"orpha":2321,"name":"Jung syndrome","type":"Malformation syndrome"},{"orpha":2349,"name":"Muscular pseudohypertrophy-hypothyroidism syndrome","type":"Disease"},{"orpha":88643,"name":"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome","type":"Disease"},{"orpha":705,"name":"Pendred syndrome","type":"Malformation syndrome"},{"orpha":453533,"name":"Polyendocrine-polyneuropathy syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}