{"orpha":99789,"name":"Dentin dysplasia type I","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["DD-I","DTDP1","Radicular dentin dysplasia"],"definition":"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD) characterized by sharp conical short roots or rootless teeth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99789/","orphanet_url":"https://www.orpha.net/en/disease/detail/99789","names":{"fr":{"name":"Dysplasie de la dentine type 1","synonyms":["DD-I","DTDP1","Dysplasie dentinaire radiculaire","Dysplasie radiculaire de la dentine"],"definition":"Forme rare de dysplasie dentinaire (DD) caractérisée par des racines pointues, coniques et courtes, ou par des dents dépourvues de racines."},"de":{"name":"Dentindysplasie Typ 1","synonyms":["DD-I","DTDP1","Dentindysplasie, radikuläre"],"definition":"Die Dentindysplasie Typ I (DD-I) ist eine seltene Form der Dentindysplasie (DD, siehe diesen Begriff), die durch spitze konische kurze Wurzeln oder wurzellose Zähne gekennzeichnet ist."},"es":{"name":"Displasia de dentina tipo 1","definition":"La displasia de la dentina tipo I (DD-I; ver este término) es una forma poco frecuente de displasia de la dentina (DD; ver este término) que se caracteriza por raíces cortas, cónicas y afiladas o dientes sin raíz."},"it":{"name":"Displasia della dentina, tipo I","synonyms":["DD-I","DTDP1","Displasia radicolare della dentina"],"definition":"La displasia della dentina tipo I (DD-I) è una forma rara di displasia della dentina (DD; si veda questo termine), caratterizzata da radici corte coniche ed appuntite oppure da denti privi di radice."},"nl":{"name":"Dentinedysplasie type I","synonyms":["DD-I","DTDP1","Radiculaire dentinedysplasie"],"definition":"Dentinedysplasie type I (DD-1) is een zeldzame vorm van dentinedysplasie (DD, zie deze term), gekenmerkt door scherpe, conische, korte wortels of wortelloze tanden."},"pt":{"name":"Displasia da dentina, tipo I"},"pl":{"name":"Dysplazja zębiny typu I","synonyms":["DD-I","DTDP1","Dysplazja zębiny korzeni"]},"cs":{"name":"Dentinová dysplázie, typ I","synonyms":["DD-I","DTDP1","Radikulární dentinová dysplázie"]},"uk":{"name":"Дисплазія дентину, тип I","synonyms":["DD-І","DTDP1","Радикулярна дисплазія дентину"],"definition":"Dentin dysplasia type I (DD-I) is a rare form of dentin dysplasia (DD, see this term) characterized by sharp conical short roots or rootless teeth."},"zh":{"name":"牙本质发育异常1型","synonyms":["根部牙本质发育不良"],"definition":"牙本质发育不良I型(DD-I)是一种罕见的牙本质发育不良(DD，见该词条)，其特征是尖锥形短根或无根的牙齿。"},"tr":{"name":"Dentin displazisi tip I","synonyms":["DD-I","DTDP1","Radiküler dentin displazisi"]}},"xrefs":[{"source":"OMIM","code":"621440","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621559","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K00.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA30.7","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"28596001"},{"source":"MONDO","code":"0007436","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538215","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0399379","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1807","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98026,"name":"Rare odontologic disease"},"parents":[{"orpha":1653,"name":"Dentin dysplasia","classifications":[156,197]}],"children":[],"genes":[{"symbol":"VPS4B","name":"vacuolar protein sorting 4 homolog B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27247351[PMID]","hgnc":"10895","ensembl":"ENSG00000119541","omim":"609983","loci":["18q21.33"]},{"symbol":"SSUH2","name":"ssu-2 homolog","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27680507[PMID]","hgnc":"24809","ensembl":"ENSG00000125046","omim":"617479","loci":["3p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"17452557[PMID]_[EXPERT]"}],"phenotypes":null}