{"orpha":685067,"name":"Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["ARED14","Autosomal recesive ectodermal dysplasia 14"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-685067/","orphanet_url":"https://www.orpha.net/en/disease/detail/685067","names":{"fr":{"name":"Syndrome d'hypodontie-hypotrichose du cuir chevelu-dysmorphie facial","synonyms":["ARED14","Dysplasie ectodermique 14 autosomique récessive"]},"de":{"name":"Hypodontie-Hypothrichose der Kopfhaut-Gesichtsdysmorphien-Syndrom","synonyms":["Ektodermale Dysplasie 14","ARED14","Dysplasie, ektodermale, autosomal-rezessive, Typ 14"]},"es":{"name":"Síndrome de hipodoncia-hipotricosis del cuero cabelludo-dismorfia facial","synonyms":["ARED14","Displasia ectodérmica 14 autosómica recesiva","Displasia ectodérmica autosómica recesiva 14"]},"it":{"name":"Sindrome ipodontia-ipotricosi del cuoio capelluto-dismorfismi facciali","synonyms":["ARED14","Displasia ectodermica autosomica recessiva 14","Displasia ectodermica 14"]},"nl":{"name":"Hypodontie - hypotrichose van scalp - faciale dysmorfie-syndroom","synonyms":["ARED14","Autosomaal recessieve ectodermale dysplasie 14"]},"pt":{"name":"Síndrome de hipodontia-hipotricose do escalpe-dismorfia facial","synonyms":["ARED14","Displasia ectodérmica 14","Displasia ectodérmica autossómica recessiva 14"]},"pl":{"name":"Zespół hipodoncji, hipotrychozy i dysmorfii twarzy","synonyms":["ARED14","Autosomal recesive ectodermal dysplasia 14"]},"cs":{"name":"Syndrom zahrnující hypodoncii, hypotrichózu skalpu a faciální dysmorfii","synonyms":["ARED14","Autosomal recesive ectodermal dysplasia 14"]}},"xrefs":[{"source":"OMIM","code":"618180","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":"attributed","validated":true},{"source":"MONDO","code":"32584","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79373,"name":"Ectodermal dysplasia syndrome","classifications":[147,156,187]},{"orpha":330206,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[156]},{"orpha":102285,"name":"Multiple congenital anomalies/dysmorphic syndrome without intellectual disability","classifications":[147]},{"orpha":98027,"name":"Rare disease with odontological manifestation","classifications":[197]}],"children":[],"genes":[{"symbol":"TSPEAR","name":"thrombospondin type laminin G domain and EAR repeats","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27736875[PMID]","hgnc":"1268","ensembl":"ENSG00000175894","omim":"612920","loci":["21q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}