{"orpha":695783,"name":"EDEM3-CDG","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CDG syndrome type IIv","CDG-IIv","CDG2V","Carbohydrate deficient glycoprotein syndrome type IIv","Congenital disorder of glycosylation type 2v","Congenital disorder of glycosylation type IIv"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-695783/","orphanet_url":"https://www.orpha.net/en/disease/detail/695783","names":{"fr":{"name":"EDEM3-CDG","synonyms":["Syndrome des glycoprotéines déficientes en hydrates de carbone type IIv","Anomalie congénitale de la glycosylation type 2v","Anomalie congénitale de la glycosylation type IIv","CDG-IIv","CDG2V","Syndrome CDG type IIv"]},"de":{"name":"EDEM3-CDG","synonyms":["CDG-IIv","CDG-Syndrom Typ IIv","CDG2V","Kohlenhydrat-defizientes Glykoprotein-Syndrom IIv","Kongenitaler Defekt der Glycoproteinbiosynthese Typ 2v"]},"es":{"name":"EDEM3-CDG","synonyms":["CDG-IIv","CDG2V","Síndrome CDG tipo IIv","Síndrome de glicoproteínas deficientes en carbohidratos tipo IIv","Trastorno congénito de la glicosilación tipo 2v","Trastorno congénito de la glicosilación tipo IIv"]},"it":{"name":"EDEM3-CDG","synonyms":["Sindrome CDG tipo IIv","CDG-IIv","CDG2V","Sindrome da glicoproteina carente di carboidrati tipo IIv","Disturbo congenito della glicosilazione tipo 2v","Disturbo congenito della glicosilazione tipo IIv"]},"nl":{"name":"EDEM3-CDG","synonyms":["CDG-IIv","CDG-syndroom type IIv","CDG2V","Congenitale glycosylatiestoornis type 2v","Congenitale glycosylatiestoornis type IIv","Koolhydraatdeficiënt glycoproteïne syndroom type Iiv"]},"pt":{"name":"EDEM3-CDG"},"pl":{"name":"EDEM3-CDG","synonyms":["CDG syndrome type IIv","CDG-IIv","CDG2V","Carbohydrate deficient glycoprotein syndrome type IIv","Congenital disorder of glycosylation type 2v","Congenital disorder of glycosylation type IIv"]},"cs":{"name":"EDEM3-CDG","synonyms":["CDG syndrome type IIv","CDG-IIv","CDG2V","Carbohydrate deficient glycoprotein syndrome type IIv","Congenital disorder of glycosylation type 2v","Congenital disorder of glycosylation type IIv"]}},"xrefs":[{"source":"OMIM","code":"619493","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-11","code":"5C54.0","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":309347,"name":"Disorder of protein N-glycosylation","classifications":[150,156]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"EDEM3","name":"ER degradation enhancing alpha-mannosidase like protein 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"34143952[PMID]","hgnc":"16787","ensembl":"ENSG00000116406","omim":"610214","loci":["1q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":12.0,"area":"Worldwide","status":"Validated","source":"34143952[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34143952[PMID]_ORPHANET"}],"phenotypes":null}