{"orpha":231147,"name":"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["UPD(11)mat"],"definition":null,"note":"This disease is described under Silver-Russell syndrome","url":"https://raremap.alftech.space/d/ORPHA-231147/","orphanet_url":"https://www.orpha.net/en/disease/detail/231147","names":{"fr":{"name":"Syndrome de Silver-Russell dû à une disomie uniparentale maternelle du chromosome 11","synonyms":["UPD(11) maternelle","UPD(11)mat"]},"de":{"name":"Silver-Russell-Syndrom durch maternale uniparentale Disomie von Chromosom 11","synonyms":["UPD(11)mat"]},"es":{"name":"Síndrome de Silver-Russell por disomía uniparental materna del cromosoma 11","synonyms":["UPD(11)mat"]},"it":{"name":"Sindrome di Silver-Russell da disomia uniparentale materna del cromosoma 11","synonyms":["UPD(11)mat"]},"nl":{"name":"Syndroom van Silver-Russell als gevolg van maternale uniparentale disomie van chromosoom 11","synonyms":["UPD(11)mat"]},"pt":{"name":"Síndrome de Silver-Russell por dissomia uniparental materna do cromossoma 11"},"pl":{"name":"Zespół Silvera i Russella z powodu matczynej jednorodzicielskiej disomii chromosomu 11","synonyms":["UPD(11)mat"]},"cs":{"name":"Silverův-Russellův syndrom způsobený maternální uniparentální dizomií chromozomu 11","synonyms":["UPD(11)mat","Silver-Russellův syndrom způsobený maternální uniparentální disomií chromozomu 11"]},"uk":{"name":"Синдром Сільвера-Рассела, зумовлений материнською однобатьківською дисомією хромосоми 11","synonyms":["UPD(11)mat"]},"zh":{"name":"母源11号染色体单亲二倍体所致Silver-Russell综合征","synonyms":["母源性UPD(11)"]},"tr":{"name":"Kromozom 11'in maternal uniparental dizomisine bağlı Silver-Russell sendromu","synonyms":["UPD (11)mat"]}},"xrefs":[{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.1Y","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0016482","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5679841","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":98153,"name":"Maternal uniparental disomy syndrome","classifications":[147,156]},{"orpha":813,"name":"Silver-Russell syndrome","classifications":[147,156,181,189,202]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable","Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-11-23","source":"27468965[PMID]_18474587[PMID]","terms":[{"hpo":"HP:0004209","label":"Clinodactyly of the 5th finger","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001627","label":"Abnormal heart morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000924","label":"Abnormality of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100555","label":"Asymmetric growth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft 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(29-5%)","criteria":null},{"hpo":"HP:0100559","label":"Lower limb asymmetry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005484","label":"Secondary microcephaly","frequency":"Occasional (29-5%)","criteria":null}]}}