{"orpha":99798,"name":"Oligodontia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Selective tooth agenesis"],"definition":"Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99798/","orphanet_url":"https://www.orpha.net/en/disease/detail/99798","names":{"fr":{"name":"Oligodontie","synonyms":["Agénésie dentaire sélective"],"definition":"L'oligodontie est une anomalie rare du développement dentaire chez l'homme caractérisée par l'absence de six ou davantage de dents."},"de":{"name":"Oligodontie","synonyms":["Zahn-Agenesie, selektive"],"definition":"Die Oligodontie ist eine seltene Anomalie der Zahnentwicklung bei Menschen, die durch das Fehlen von 6 oder mehr Zähnen gekennzeichnet ist."},"es":{"name":"Oligodoncia","synonyms":["Agenesia dental selectiva"],"definition":"La oligodoncia es una anomalía del desarrollo de los dientes poco frecuente en humanos, que se caracteriza por la ausencia de seis o más dientes."},"it":{"name":"Oligodontia","synonyms":["Agenesia selettiva dei denti"],"definition":"L'oligodontia è un'anomalia rara dello sviluppo dei denti, caratterizzata dall'assenza di sei o più denti."},"nl":{"name":"Oligodontie","synonyms":["Selectieve tandagenesie"],"definition":"Oligodontie is een zeldzame afwijking van de tandontwikkeling die wordt gekarakteriseerd door het ontbreken van zes of meer tanden."},"pt":{"name":"Oligodontia"},"pl":{"name":"Oligodoncja","synonyms":["Agenezja pojedyńczych zębów"],"definition":"Oligodoncja jest rzadką wadą rozwojową uzębienia u człowieka i charakteryzuje się brakiem sześciu lub więcej zębów."},"cs":{"name":"Oligodoncie","synonyms":["Selektivní ageneze zubů"]},"uk":{"name":"Олігодонтія","synonyms":["Селективна агенезія зубів"],"definition":"Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth."},"zh":{"name":"少牙畸形","synonyms":["选择性牙发育不全"],"definition":"少齿是一种罕见的人类牙齿发育异常，其特征是缺少6颗或更多的牙齿"},"tr":{"name":"Oligodonti","synonyms":["Seçici diş agenezisi"]}},"xrefs":[{"source":"OMIM","code":"106600","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"150400","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"313500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"604625","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610926","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616724","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617073","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617275","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"620173","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K00.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LA30.2","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1559717619"},{"source":"MONDO","code":"0005486","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"5486","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4082304","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088239","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98026,"name":"Rare 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6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"6121","ensembl":"ENSG00000117595","omim":"607199","loci":["1q32.2"]},{"symbol":"MSX1","name":"msh homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7391","ensembl":"ENSG00000163132","omim":"142983","loci":["4p16.2"]},{"symbol":"PAX9","name":"paired box 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"8623","ensembl":"ENSG00000198807","omim":"167416","loci":["14q13.3"]},{"symbol":"TGFA","name":"transforming growth factor alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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