{"orpha":100032,"name":"Hypocalcified amelogenesis imperfecta","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Amelogenesis imperfecta type 3"],"definition":null,"note":"This disease is described under Amelogenesis imperfecta","url":"https://raremap.alftech.space/d/ORPHA-100032/","orphanet_url":"https://www.orpha.net/en/disease/detail/100032","names":{"fr":{"name":"Amélogenèse imparfaite hypocalcifiée","synonyms":["Amélogenèse imparfaite type 3"]},"de":{"name":"Amelogenesis imperfecta, hypomineralisierte","synonyms":["Amelogenesis imperfecta Typ 3"]},"es":{"name":"Amelogénesis imperfecta con hipocalcificación"},"it":{"name":"Amelogenesi imperfetta, tipo ipocalcificato"},"nl":{"name":"Hypogecalcificeerde amelogenesis imperfecta","synonyms":["Amelogenesis imperfecta type 3"]},"pt":{"name":"Amelogénese imperfeita, tipo hipocalcificada"},"pl":{"name":"Wrodzony niedorozwój szkliwa typu niedojrzałego","synonyms":["Amelogenesis imperfecta typu 3"]},"cs":{"name":"Hypokalficikovaná amelogenesis imperfecta","synonyms":["Amelogenesis imperfecta, typ 3"]},"uk":{"name":"Гіпокальцифікований недосконалий амелогенез","synonyms":["Недосконалий амелогенез тип 3"]},"zh":{"name":"低钙性牙釉质发育不全","synonyms":["牙釉质发育不全3型"]},"tr":{"name":"Hipokalsifiye amelogenez imperfekta","synonyms":["Amelogenesis imperfekta tip 3"]}},"xrefs":[{"source":"OMIM","code":"130900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616221","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617607","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618386","qualifier":"BTNT","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":"1793262466"},{"source":"MONDO","code":"0968955","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562880","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0399376","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":"RELT","name":"RELT TNF receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30506946[PMID]","hgnc":"13764","ensembl":"ENSG00000054967","omim":"611211","loci":["11q13.4"]},{"symbol":"AMTN","name":"amelotin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"27412008[PMID]","hgnc":"33188","ensembl":"ENSG00000187689","omim":"610912","loci":["4q13.3"]},{"symbol":"ITGB6","name":"integrin subunit beta 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24319098[PMID]","hgnc":"6161","ensembl":"ENSG00000115221","omim":"147558","loci":["2q24.2"]},{"symbol":"SACK1H","name":"scaffolding CK1 anchoring protein H","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18252228[PMID]","hgnc":"24797","ensembl":"ENSG00000180921","omim":"611927","loci":["8q24.3"]},{"symbol":"SLC24A4","name":"solute carrier family 24 member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23375655[PMID]","hgnc":"10978","ensembl":"ENSG00000140090","omim":"609840","loci":["14q32.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}