{"orpha":99228,"name":"Mosaic monosomy X syndrome","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Turner syndrome","url":"https://raremap.alftech.space/d/ORPHA-99228/","orphanet_url":"https://www.orpha.net/en/disease/detail/99228","names":{"fr":{"name":"Syndrome de monosomie x en mosaïque"},"de":{"name":"Monosomie X-Mosaik"},"es":{"name":"Síndrome de monosomía X en mosaico"},"it":{"name":"Sindrome monosomia X in mosaico"},"nl":{"name":"Mozaïekmonosomie X-syndroom"},"pt":{"name":"Monossomia X em mosaicismo"},"pl":{"name":"Zespół mozaikowej monosomii chromosomu X"},"cs":{"name":"Mozaiková forma monozomie X"},"uk":{"name":"Мозаїчна моносомія X"},"zh":{"name":"镶嵌型X单体"},"tr":{"name":"Mozaik monozomi X"}},"xrefs":[{"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-11","code":"LD50.03","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"1897256597"},{"source":"ICD-11","code":"LD50.04","qualifier":"BTNT","icd_relation":"specific","validated":true,"icd11_uri":"50021633"},{"source":"MONDO","code":"0020467","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681628","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":881,"name":"Turner syndrome","classifications":[147,156,181,185,187,188,189,193,198,201,205,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-30","source":"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: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: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}]}}