{"orpha":100034,"name":"Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Amelogenesis imperfecta type 4"],"definition":null,"note":"This disease is described under Amelogenesis imperfecta","url":"https://raremap.alftech.space/d/ORPHA-100034/","orphanet_url":"https://www.orpha.net/en/disease/detail/100034","names":{"fr":{"name":"Amélogenèse imparfaite hypomature-hypoplasique avec taurodontisme","synonyms":["Amélogenèse imparfaite type 4"]},"de":{"name":"Amelogenesis imperfecta, hypomaturiert-hypoplastische, mit Taurodontismus","synonyms":["Amelogenesis imperfecta Typ 4"]},"es":{"name":"Amelogénesis imperfecta hipomineralización-hipoplasia con taurodontismo"},"it":{"name":"Amelogenesi imperfetta immatura-ipoplasica associata a taurodontia"},"nl":{"name":"Hypomaturatie-hypoplastische amelogenesis imperfecta met taurodontie","synonyms":["Amelogenesis imperfecta type 4"]},"pt":{"name":"Amelogénese imperfeita, hipomaturação-hipoplástica com taurodontia"},"pl":{"name":"Niedojrzało-hipoplastyczny typ wrodzonego niedorozwoju szkliwa z taurodontyzmem","synonyms":["Amelogenesis imperfecta typu 4"]},"cs":{"name":"Hypomaturačně-hypoplastická amelogenesis imperfecta s taurodontismem","synonyms":["Amelogenesis imperfecta, typ 4"]},"uk":{"name":"Гіпоматураційно-гіпопластичний недосконалий амелогенез з тауродонтизмом","synonyms":["Недосконалий амелогенез, тип 4"]},"zh":{"name":"成熟不全-发育不良性牙釉质发育不全伴长冠牙","synonyms":["牙釉质发育不全4型"]},"tr":{"name":"Taurodontizm ile seyreden hipomaturasyon-hipoplastik amelogenez imperfekta","synonyms":["Amelogenesis imperfekta tip 4"]}},"xrefs":[{"source":"OMIM","code":"104510","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K00.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA30.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"589929834"},{"source":"MONDO","code":"0007093","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0399373","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98026,"name":"Rare odontologic disease"},"parents":[{"orpha":88661,"name":"Amelogenesis imperfecta","classifications":[156,197]}],"children":[],"genes":[{"symbol":"DLX3","name":"distal-less homeobox 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15666299[PMID]","hgnc":"2916","ensembl":"ENSG00000064195","omim":"600525","loci":["17q21.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}