{"orpha":2721,"name":"Odonto-onycho-dermal dysplasia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OODD"],"definition":"A rare, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2721/","orphanet_url":"https://www.orpha.net/en/disease/detail/2721","names":{"fr":{"name":"Dysplasie odonto-onychodermique","synonyms":["DOOD","OODD"],"definition":"Dysplasie ectodermique génétique rare caractérisée par des anomalies dentaires (principalement une agénésie des dents de lait et des dents permanentes avec des incisives et des canines coniques), une onychodysplasie, une hyperkératose palmoplantaire, une sécheresse cutanée et, de manière moins constante, une hypotrichose et un dysfonctionnement des glandes sudoripares (hyper- or hypohidrose)."},"de":{"name":"Dysplasie, odonto-onycho-dermale","synonyms":["OODD"],"definition":"Ein seltenes Ektodermale-Dysplasie-Syndrom, das durch Zahnanomalien (vor allem Agenesie der bleibenden Zähne und der Milchzähne mit kegelförmigen Schneide- und Eckzähnen), Onychodysplasie, palmoplantare Hyperkeratose, trockene Haut und, in unterschiedlicher Ausprägung, Hypotrichose und Schweißdrüsenfehlfunktion (Hyper- oder Hypohidrose) gekennzeichnet ist."},"es":{"name":"Displasia odonto-ónico-dérmica","synonyms":["OODD"],"definition":"Es un síndrome de displasia ectodérmica de origen genético poco frecuente caracterizado por anomalías dentales (principalmente agenesia de los dientes permanentes y temporales con incisivos y caninos en forma de cono), onicodisplasia, hiperqueratosis palmoplantar, piel seca y, de forma variable, hipotricosis y disfunción de las glándulas sudoríparas (hiper- o hipohidrosis)."},"it":{"name":"Displasia odonto-onico-dermica","synonyms":["OODD"],"definition":"Si tratta di una displasia ectodermica genetica rara, caratterizzata da anomalie dei denti (soprattutto agenesia dei denti permanenti e decidui con incisivi e canini conici), onicodisplasia, ipercheratosi palmoplantare, cute secca e, più variabilmente, ipotricosi e disfunzione delle ghiandole sudoripare (iper- o ipoidrosi)."},"nl":{"name":"Odonto-onycho-dermale dysplasie","synonyms":["OODD"],"definition":"Een zeldzaam, genetisch syndroom van ectodermale dysplasie, gekenmerkt door dentale anomalieën (vooral agenesie van blijvende gebitselementen en melktanden met kegelvormige snij- en hoektanden), onychodysplasie, palmoplantaire hyperkeratose, droge huid, en, variabeler aanwezig, hypotrichose en disfunctie van zweetklieren (hyper- of hypohidrose)."},"pt":{"name":"Displasia ondonto-onico-cutânea"},"pl":{"name":"Dysplazja zębowo-paznokciowo-skórna","synonyms":["OODD"]},"cs":{"name":"Odontoonychodermální dysplázie","synonyms":["OODD"]},"uk":{"name":"Одонтооніходермальна дисплазія","synonyms":["OODD"],"definition":"A rare, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis)."},"zh":{"name":"牙-指甲-表皮发育不良","synonyms":["OODD综合征"]},"tr":{"name":"Odonto-oniko-dermal displazi","synonyms":["OODD"]}},"xrefs":[{"source":"OMIM","code":"257980","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD27.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1256237872"},{"source":"MONDO","code":"0009773","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537742","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0796093","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4054","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":307804,"name":"Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature","classifications":[156,187]},{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":183580,"name":"Genetic malformation syndrome with odontal and/or periodontal component","classifications":[156]},{"orpha":139042,"name":"Malformation syndrome with odontal and/or periodontal component","classifications":[147,197]}],"children":[],"genes":[{"symbol":"WNT10A","name":"Wnt family member 10A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17847007[PMID]_24458874[PMID]","hgnc":"13829","ensembl":"ENSG00000135925","omim":"606268","loci":["2q35"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":30.0,"area":"Worldwide","status":"Validated","source":"26964878[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_26964878[PMID]"}],"phenotypes":null}