{"orpha":708043,"name":"Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-708043/","orphanet_url":"https://www.orpha.net/en/disease/detail/708043","names":{"fr":{"name":"Dysplasie ectodermique avec oligodontie-malformation des mains et pieds-hypoplasie des mamelons"},"de":{"name":"Ektodermale Dysplasie-Syndrom mit Oligodontie, Hand- und Fußfehlbildung und hypoplastische Brustwarzen"},"es":{"name":"Displasia ectodérmica con oligodoncia-malformación de manos y pies-pezones hipoplásicos"},"it":{"name":"Displasia ectodermica con oligodontia-malformazione delle mani e dei piedi-capezzoli ipoplasici"},"nl":{"name":"Ectodermale dysplasie met oligodontie - hand- en voetmalformatie - hypoplastische tepels"},"pt":{"name":"Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples"},"pl":{"name":"Dysplazja ektodermalna z oligodoncją, wadami rozwojowymi dłoni i stóp i niedorozwojem sutków"},"cs":{"name":"Ectodermal dysplasia with oligodontia-hand and foot malformation-hypoplastic nipples"}},"xrefs":[{"source":"OMIM","code":"621224","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":498477,"name":"Ectrodactyly with and without other manifestations","classifications":[147,156,199]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]}],"children":[],"genes":[{"symbol":"LEF1","name":"lymphoid enhancer binding factor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32022899[PMID]_35583550[PMID]","hgnc":"6551","ensembl":"ENSG00000138795","omim":"153245","loci":["4q25"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":14.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}