{"orpha":166260,"name":"Dentinogenesis imperfecta type 2","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Capdepont teeth","DGI-2","DI-2","Dentinogenesis imperfecta, Shields type 2"],"definition":"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI) and is characterized by weakness and discoloration of all teeth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-166260/","orphanet_url":"https://www.orpha.net/en/disease/detail/166260","names":{"fr":{"name":"Dentinogenèse imparfaite type 2","synonyms":["DGI-2","DI-2","Dentinogenèse imparfaite type Shields 2","Dysplasie de Capdepont"],"definition":"Forme rare et sévère de dentinogenèse imparfaite (DGI) caractérisée par une fragilité et une décoloration de toutes les dents."},"de":{"name":"Dentinogenesis imperfecta Typ 2","synonyms":["DGI-2","DI-2","Dentinogenesis imperfecta Typ Shields II"],"definition":"Die Dentinogenesis Imperfecta Typ 2 (DGI-2) ist eine seltene, schwere Form der Dentinogenesis imperfecta (DGI, siehe diesen Begriff) und ist gekennzeichnet durch die Schwäche und Entfärbung aller Zähne."},"es":{"name":"Dentinogénesis imperfecta tipo 2","synonyms":["DGI-2","DI-2","Dentinogénesis imperfecta Shields tipo 2","Dentinogénesis imperfecta de Shields tipo 2","Dientes de Capdepont"],"definition":"La dentinogénesis imperfecta tipo 2 (DGI-2) es una forma grave y poco frecuente de la dentinogénesis imperfecta (DGI; ver este término), caracterizada por debilidad y decoloración de todos los dientes."},"it":{"name":"Dentinogenesi imperfetta, tipo 2","synonyms":["DI-2","Denti di Capdepont","DGI-2"],"definition":"La dentinogenesi imperfetta tipo 2 (DGI-2) è una rara forma grave di dentinogenesi imperfetta (DGI; si veda questo termine) ed è caratterizzata da debolezza e scolorimento dei denti."},"nl":{"name":"Dentinogenesis imperfecta type 2","synonyms":["Capdepont-tanden","DGI-2","DI-2","Dentinogenesis imperfecta, Shields-type 2"],"definition":"Dentinogenesis imperfecta type 2 (DGI-2) is een zeldzame, ernstige vorm van dentinogenesis imperfecta (DGI, zie deze term) en is gekenmerkt door broosheid en verkleuring van alle tanden."},"pt":{"name":"Dentinogénese imperfeita, tipo 2"},"pl":{"name":"Dentinogenesis imperfecta typu 2","synonyms":["Dentinogenesis imperfecta, Shieldsa typu 2","DGI-2","DI-2","Zęby Capdeponta"]},"cs":{"name":"Dentinogenesis imperfecta, typ 2","synonyms":["Capdepontovy zuby","DGI-2","DI-2","Dentinogenesis imperfecta, Shieldsův typ II"]},"uk":{"name":"Недосконалий дентиногенез, тип 2","synonyms":["Капдепонтові зуби","Недосконалий дентиногенез, Щитки типу 2","DGI-2","DI-2"],"definition":"Dentinogenesis imperfecta type 2 (DGI-2) is a rare, severe form of dentinogenesis imperfecta (DGI, see this term) and is characterized by weakness and discoloration of all teeth."},"zh":{"name":"牙本质发育不全2型","synonyms":["牙本质发育不全Shields2型"],"definition":"牙本质发育不全2型(DGI-2)是一种罕见的严重型牙本质发育不全(DGI，见该词条)，其特征是所有牙齿脆弱和变色。"},"tr":{"name":"Dentinogenesis imperfekta tip 2","synonyms":["DI-2","DGI-2","Capdepont dişleri","Dantinojenez bozukluğu, Shields tipi 2"]}},"xrefs":[{"source":"OMIM","code":"125490","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"605594","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K00.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA30.8","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"314718507"},{"source":"MONDO","code":"0007441","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2973527","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12796","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98026,"name":"Rare odontologic disease"},"parents":[{"orpha":49042,"name":"Dentinogenesis imperfecta","classifications":[156,197]}],"children":[],"genes":[{"symbol":"DSPP","name":"dentin sialophosphoprotein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3054","ensembl":"ENSG00000152591","omim":"125485","loci":["4q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":14.6,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":null}