{"orpha":93329,"name":"Autosomal recessive omodysplasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Micromelic dysplasia-dislocation of radius syndrome"],"definition":null,"note":"This disease is described under Omodysplasia","url":"https://raremap.alftech.space/d/ORPHA-93329/","orphanet_url":"https://www.orpha.net/en/disease/detail/93329","names":{"fr":{"name":"Omodysplasie autosomique récessive","synonyms":["Syndrome de dysplasie micromélique-dysplasie du radius","Syndrome de dysplasie micromélique-luxation du radius"]},"de":{"name":"Omodysplasie, autosomal-rezessive Form","synonyms":["Mikromelie - Radiusdislokation"]},"es":{"name":"Omodisplasia, forma autosómica recesiva","synonyms":["Displasia micromélica-luxación del radio"]},"it":{"name":"Omodisplasia, forma autosomica recessiva","synonyms":["Displasia micromelica - dislocazione del radio"]},"nl":{"name":"Autosomaal recessieve omodysplasie","synonyms":["Micromelische dysplasie - luxatie van radius-syndroom"]},"pt":{"name":"Omodisplasia autossómica recessiva"},"pl":{"name":"Autosomalna recesywna omodysplazja","synonyms":["Dysplazja mikromeliczna - przemieszczenie kości promieniowej"]},"cs":{"name":"Autozomálně recesivní omodysplázie","synonyms":["Syndrom zahrnující mikromelickou dysplázii a dislokaci radia"]},"uk":{"name":"Аутосомно-рецесивна омодисплазія","synonyms":["Мікромелічна дисплазія - синдром вивиху променевої кістки"]},"zh":{"name":"常染色体隐性肩胛骨发育不良","synonyms":["桡骨微发育不良-脱位综合征"]},"tr":{"name":"Otozomal resesif omodisplazi","synonyms":["Mikromelik displazi-radius çıkığı sendromu"]}},"xrefs":[{"source":"OMIM","code":"258315","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q78.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.A","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"350802889"},{"source":"MONDO","code":"0009779","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537746","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1850318","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4076","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":2733,"name":"Omodysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"GPC6","name":"glypican 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19481194[PMID]","hgnc":"4454","ensembl":"ENSG00000183098","omim":"604404","loci":["13q31.3-q32.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"19481194[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-12-13","source":null,"terms":[{"hpo":"HP:0000944","label":"Abnormal metaphysis morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002818","label":"Abnormal morphology of the radius","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005025","label":"Hypoplastic distal humeri","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003027","label":"Mesomelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002983","label":"Micromelia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010880","label":"Increased nuchal translucency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001059","label":"Pterygium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null}]}}