{"orpha":664377,"name":"MGP-related spondyloepiphyseal dysplasia","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["MGP-related SED","Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-664377/","orphanet_url":"https://www.orpha.net/en/disease/detail/664377","names":{"fr":{"name":"Dysplasie spondylo-épiphysaire liée à MGP"},"de":{"name":"Dysplasie, spondyloepiphysäre, MGP-assoziierte","synonyms":["MGP-abhängige SED","Spondyloepiphysäre Dysplasie-Platyspondylie-Brachytelephalangie-Syndrom"]},"es":{"name":"Displasia espondiloepifisaria asociada al gen MGP","synonyms":["DEE asociada al gen MGP","Síndrome de displasia espondiloepifisaria-platispondilia-braquitelefalangismo"]},"it":{"name":"Displasia spondiloepifisaria correlata a MGP","synonyms":["DSE correlata a MGP","Sindrome displasia spondiloepifisaria-platispondilia-brachitelefalangia"]},"nl":{"name":"MGP-gerelateerde spondylo-epifysaire dysplasie","synonyms":["MGP-gerelateerde SED","Spondylo-epifysaire dysplasie - platyspondylie - brachytelefalangisme-syndroom"]},"pt":{"name":"Displasia espondiloepifisária MGP-relacionada","synonyms":["SED MGP-relacionada","Síndrome de displasia espondiloepifisária-platispondilia-braquitelefalangismo"]},"pl":{"name":"Dysplazja kręgowo-nasadowa związana z MGP","synonyms":["MGP-related SED","Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome"]},"cs":{"name":"MGP-asociovaná spondyloepifyzární dysplazie","synonyms":["MGP-related SED","Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome"]},"uk":{"name":"Спондилоепіфізарна дисплазія, повязана з MGP","synonyms":["SED, повязана з MGP","Синдром спондилоепіфізарної дисплазії-платиспондило-брахітелефалангізму"]}},"xrefs":[{"source":"ICD-10","code":"Q77.7","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD24.3","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0971093","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"971093","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5925072","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93419,"name":"Rare bone disease"},"parents":[{"orpha":183570,"name":"Genetic malformation syndrome with short stature","classifications":[156]},{"orpha":139021,"name":"Malformation syndrome with short stature","classifications":[147]},{"orpha":253,"name":"Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia","classifications":[147,156,199]}],"children":[],"genes":[{"symbol":"MGP","name":"matrix Gla protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37923733[PMID]","hgnc":"7060","ensembl":"ENSG00000111341","omim":"154870","loci":["12p12.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}