{"orpha":1027,"name":"Autosomal recessive amelia","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":[],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Tetraamelia-multiple malformations syndrome","url":"https://raremap.alftech.space/d/ORPHA-1027/","orphanet_url":"https://www.orpha.net/en/disease/detail/1027","names":{"fr":{"name":"Amélie autosomique récessive"},"de":{"name":"Amelie, autosomal-rezessive"},"es":{"name":"Amelia autosómica recesiva"},"it":{"name":"Amelia autosomica recessiva"},"nl":{"name":"Autosomaal recessieve amelie"},"pt":{"name":"Amelia autossómica recessiva"},"pl":{"name":"Amelia autosomalna recesywna"},"cs":{"name":"Autozomálně recesivní amélie"},"uk":{"name":"Аутосомно-рецесивна амелія","definition":"A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents."},"zh":{"name":"常染色体隐性遗传无肢畸形"},"tr":{"name":"Otozomal resesif ameli"}},"xrefs":[{"source":"OMIM","code":"601360","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"0011054","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563338","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1832432","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":3301,"name":"Tetraamelia-multiple malformations syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}