{"orpha":881,"name":"Turner syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["45,X syndrome","45,X/46,XX syndrome"],"definition":"A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-881/","orphanet_url":"https://www.orpha.net/en/disease/detail/881","names":{"fr":{"name":"Syndrome de Turner","synonyms":["Syndrome 45,X","Syndrome 45,X/46,XX"],"definition":"Syndrome d'anomalie chromosomique rare caractérisé par l'absence totale ou partielle d'un chromosome X chez les filles, se manifestant sur le plan clinique par une petite taille, une insuffisance ovarienne prématurée, ainsi que par des atteintes cardiovasculaires, rénales, hépatiques et auto-immunes, une perte auditive et des troubles neurocognitifs."},"de":{"name":"Turner-Syndrom","synonyms":["45,X-Syndrom","45,X/46,XX-Syndrom","UTS","Ullrich-Turner-Syndrom"],"definition":"Ein seltenes Chromosomenanomalie-Syndrom, das durch den vollständigen oder teilweisen Verlust eines X-Chromosoms bei phänotypischen Frauen gekennzeichnet ist und sich klinisch durch Kleinwuchs, primäre Ovarialinsuffizienz sowie Herz-Kreislauf-, Nieren-, Leber- und Autoimmunerkrankungen, Hörverlust und neurokognitive Anomalien äußert."},"es":{"name":"Síndrome de Turner","synonyms":["Síndrome 45,X","Síndrome 45,X/46,XX"],"definition":"Es un síndrome poco frecuente de anomalías cromosómicas caracterizado por la pérdida total o parcial de un cromosoma X en pacientes con fenotipo femenino, que se manifiesta clínicamente con talla baja e insuficiencia ovárica primaria, así como con enfermedades cardiovasculares, renales, hepáticas, autoinmunes, hipoacusia y anomalías neurocognitivas."},"it":{"name":"Sindrome di Turner","synonyms":["Sindrome 45,X","Sindrome 45,X/46,XX"],"definition":"Si tratta di un'anomalia cromosomica rara, caratterizzata dalla perdita completa o parziale di un cromosoma X in soggetti con fenotipo femminile. Il quadro clinico comprende la bassa statura, l'insufficienza ovarica primitiva, le malattie cardiovascolari, renali, epatiche e autoimmuni, la sordità e le anomalie neurocognitive."},"nl":{"name":"Syndroom van Turner","synonyms":["45,X-syndroom","45,X/46,XX-syndroom"],"definition":"Een zeldzaam syndroom door chromosoomafwijking, gekenmerkt door volledig of gedeeltelijk verlies van een X-chromosoom bij fenotypische vrouwen, wat zich klinisch manifesteert met kleine gestalte, primaire ovariële insufficiëntie, alsook cardiovasculaire anomalieën, nieranomalieën, afwijkingen van lever, auto-immuunziekten, gehoorverlies, en neurocognitieve afwijkingen."},"pt":{"name":"Síndrome Turner","synonyms":["Monossomia X"],"definition":"Síndrome rara de anomalia cromossómica caracterizada pela perda completa ou parcial de um cromossoma X em indivíduos do sexo feminino com fenótipo concordante, manifestando-se clinicamente com baixa estatura, insuficiência ovárica primária, doenças cardiovasculares, renais, hepáticas, autoimunes, perda auditiva e anomalias neurocognitivas."},"pl":{"name":"Zespół Turnera","synonyms":["Zespół 45,X","Zespół 45,X/46,XX"],"definition":"Rzadki zespół anomalii chromosomowych charakteryzujący się całkowitą lub częściową utratą chromosomu X u osób o fenotypie żeńskim, klinicznie objawiający się niskim wzrostem, pierwotną niewydolnością jajników, a także chorobami układu krążenia, nerek, wątroby, chorobami autoimmunologicznymi, niedosłuchem i zaburzeniami neurokognitywnymi."},"cs":{"name":"Turnerův syndrom","synonyms":["45,X syndrom","45,X/46,XX syndrom","Monozomie X"]},"uk":{"name":"Синдром Тернера","synonyms":["Синдром 45,X","Синдром 45,X/46,XX"],"definition":"A rare chromosomal anomaly syndrome characterized by complete or partial loss of an X chromosome in phenotypic females, clinically manifesting with short stature, primary ovarian insufficiency as well as cardiovascular, renal, liver, autoimmune diseases, hearing loss and neurocognitive abnormalities."},"zh":{"name":"特纳综合征","synonyms":["45，X/46，XX综合征"]},"tr":{"name":"Turner sendromu","synonyms":["45,X sendromu","45,X / 46,XX sendromu"]}},"xrefs":[{"source":"ICD-10","code":"Q96.0","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q96.1","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q96.2","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q96.3","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q96.4","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q96.8","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-10","code":"Q96.9","qualifier":"BTNT","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"LD50.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1987089698"},{"source":"MONDO","code":"0019499","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D014424","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0041408","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7831","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10045181","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98642,"name":"Chromosomal anomaly with cataract","classifications":[156,189]},{"orpha":568047,"name":"Disorder with multisystemic involvement and primary lymphedema","classifications":[147,156,187,198]},{"orpha":477771,"name":"Rare disorder with a moyamoya angiopathy","classifications":[156,181]},{"orpha":399877,"name":"Rare female infertility due to gonadal dysgenesis","classifications":[156,201]},{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]},{"orpha":325546,"name":"Sex chromosome difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]},{"orpha":98574,"name":"Syndromic epicanthus","classifications":[147,156,189]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]},{"orpha":165707,"name":"Syndromic urogenital tract malformation","classifications":[147,156,185]},{"orpha":263717,"name":"X chromosome number anomaly with female phenotype syndrome","classifications":[147,156]}],"children":[{"orpha":99226,"name":"Monosomy X syndrome","type":"Etiological subtype"},{"orpha":99228,"name":"Mosaic monosomy X syndrome","type":"Etiological subtype"},{"orpha":99413,"name":"Turner syndrome due to structural X chromosome anomalies","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.5,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1985-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.5,"area":"Austria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1985-2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.9,"area":"Belgium","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1980-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.5,"area":"Bulgaria","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1996-1999[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.6,"area":"Croatia","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1983-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.4,"area":"Denmark","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1980-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.1,"area":"France","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1980-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":8.0,"area":"Germany","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1987-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Hungary","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1998-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.1,"area":"Ireland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1980-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.4,"area":"Italy","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1980-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Malta","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1986-2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":14.0,"area":"Netherlands","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1981-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.2,"area":"Norway","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1999-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.6,"area":"Poland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1999-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"Portugal","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1990-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"Spain","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1980-2009[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":22.4,"area":"Switzerland","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1989-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.1,"area":"United Kingdom","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1980-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"Ukraine","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 2005-2010[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"6-9 / 10 000","value":70.0,"area":"Japan","status":"Not yet validated","source":"ISBN:444897208[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":42.5,"area":"Singapore","status":"Validated","source":"19551311[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-10","source":"30560013[PMID]_28705803[PMID]_17047017[PMID]_22707402[PMID]_25517026[PMID]_25438673[PMID]_27008889[PMID]_25573747[PMID]_26039527[PMID]_26874361[PMID]_26744895[PMID]_20594638[PMID]_22802424[PMID]_23603786[PMID]_24731013[PMID]_14752843[PMID]_23173989[PMID]_18839441[PMID]_17873120[PMID]","terms":[{"hpo":"HP:0040072","label":"Abnormal forearm bone morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000137","label":"Abnormality of the ovary","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002967","label":"Cubitus valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100625","label":"Enlarged thorax","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008222","label":"Female infertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000133","label":"Gonadal dysgenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003492","label":"High urinary gonadotropins (primary hypogonadism)","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012774","label":"Increased upper to lower segment ratio","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008209","label":"Premature ovarian insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000879","label":"Short sternum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006610","label":"Wide intermamillary distance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007477","label":"Abnormal dermatoglyphics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000475","label":"Broad neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005689","label":"Dermatoglyphic ridges abnormal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005113","label":"Dilatation of the aortic arch","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006438","label":"Enlargement of the distal femoral epiphysis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001952","label":"Glucose intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000872","label":"Hashimoto thyroiditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002705","label":"High, narrow palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010510","label":"Hypermobility of toe joints","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001800","label":"Hypoplastic toenails","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000758","label":"Impaired use of nonverbal behaviors","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006456","label":"Irregular proximal tibial epiphyses","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002162","label":"Low posterior hairline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009759","label":"Neck pterygia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000869","label":"Secondary amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000914","label":"Shield chest","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010044","label":"Short 4th metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010047","label":"Short 5th metacarpal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000474","label":"Thickened nuchal skin fold","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001231","label":"Abnormal fingernail morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009118","label":"Aplasia/Hypoplasia of the mandible","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000987","label":"Atypical scarring of skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001647","label":"Bicuspid aortic valve","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002608","label":"Celiac disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002611","label":"Cholestatic liver disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001680","label":"Coarctation of aorta","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000476","label":"Cystic hygroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012434","label":"Delayed social development","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000086","label":"Ectopic kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000085","label":"Horseshoe kidney","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001812","label":"Hyperconvex fingernails","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003186","label":"Inverted nipples","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001004","label":"Lymphedema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003067","label":"Madelung deformity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000995","label":"Melanocytic nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003764","label":"Nevus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005603","label":"Numerous congenital melanocytic nevi","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001763","label":"Pes planus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001657","label":"Prolonged QT interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001831","label":"Short toe","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011307","label":"Splayed toes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100646","label":"Thyroiditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001045","label":"Vitiligo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002647","label":"Aortic dissection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005294","label":"Arterial dissection","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002613","label":"Biliary cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000471","label":"Gastrointestinal angiodysplasia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004386","label":"Gastrointestinal inflammation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000150","label":"Gonadoblastoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004383","label":"Hypoplastic left heart","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002861","label":"Melanoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008678","label":"Renal hypoplasia/aplasia","frequency":"Very rare (<4-1%)","criteria":null}]}}