{"orpha":93328,"name":"Autosomal dominant omodysplasia","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This disease is described under Omodysplasia","url":"https://raremap.alftech.space/d/ORPHA-93328/","orphanet_url":"https://www.orpha.net/en/disease/detail/93328","names":{"fr":{"name":"Omodysplasie autosomique dominante"},"de":{"name":"Omodysplasie, autosomal-dominante Form"},"es":{"name":"Omodisplasia, forma autosómica dominante"},"it":{"name":"Omodisplasia, forma autosomica dominante"},"nl":{"name":"Autosomaal dominante omodysplasie"},"pt":{"name":"Omodisplasia autossómica dominante"},"pl":{"name":"Autosomalna dominująca omodysplazja"},"cs":{"name":"Autozomálně dominantní omodysplázie"},"uk":{"name":"Аутосомно-домінантна омодисплазія"},"zh":{"name":"常染色体显性肩胛骨发育不良"},"tr":{"name":"Otozomal dominant omodisplazi"}},"xrefs":[{"source":"OMIM","code":"164745","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":"1237796148"},{"source":"MONDO","code":"0008123","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567664","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2750355","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3643","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":"FZD2","name":"frizzled class receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25759469[PMID]","hgnc":"4040","ensembl":"ENSG00000180340","omim":"600667","loci":["17q21.31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003042","label":"Elbow dislocation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008905","label":"Rhizomelia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010034","label":"Short 1st metacarpal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005792","label":"Short humerus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000048","label":"Bifid scrotum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002007","label":"Frontal bossing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000272","label":"Malar flattening","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002999","label":"Patellar dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004279","label":"Short palm","frequency":"Occasional (29-5%)","criteria":null}]}}