{"orpha":100033,"name":"Hypomaturation amelogenesis imperfecta","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Amelogenesis imperfecta type 2"],"definition":null,"note":"This disease is described under Amelogenesis imperfecta","url":"https://raremap.alftech.space/d/ORPHA-100033/","orphanet_url":"https://www.orpha.net/en/disease/detail/100033","names":{"fr":{"name":"Amélogenèse imparfaite hypomature","synonyms":["Amélogenèse imparfaite type 2"]},"de":{"name":"Amelogenesis imperfecta, hypomaturierte","synonyms":["Amelogenesis imperfecta Typ 2"]},"es":{"name":"Amelogénesis imperfecta tipo hipomaduración"},"it":{"name":"Amelogenesi imperfetta, tipo immaturo"},"nl":{"name":"Hypomaturatie amelogenesis imperfecta","synonyms":["Amelogenesis imperfecta type 2"]},"pt":{"name":"Amelogénese imperfeita, tipo hipomaturação"},"pl":{"name":"Wrodzony niedorozwój szkliwa z niedojrzałością","synonyms":["Amelogenesis imperfecta typu 2"]},"cs":{"name":"Hypomaturační forma amelogenesis imperfecta","synonyms":["Amelogenesis imperfecta, typ 2"]},"uk":{"name":"Недосконалий амелогенез гіпоматуризації","synonyms":["Недосконалий амелогенез тип 2"]},"zh":{"name":"成熟不全性牙釉质发育不全","synonyms":["牙釉质发育不全2型"]},"tr":{"name":"Hipomaturasyon amelogenez imperfekta","synonyms":["Amelogenesis imperfekta tip 2"]}},"xrefs":[{"source":"OMIM","code":"204700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612529","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613211","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614832","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615887","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617217","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":"1724039678"},{"source":"MONDO","code":"0015048","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536606","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0399372","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8349","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":"GPR68","name":"G protein-coupled receptor 68","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27693231[PMID]","hgnc":"4519","ensembl":"ENSG00000119714","omim":"601404","loci":["14q32.11"]},{"symbol":"ODAPH","name":"odontogenesis associated phosphoprotein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22901946[PMID]","hgnc":"26300","ensembl":"ENSG00000174792","omim":"614829","loci":["4q21.1"]},{"symbol":"AMELX","name":"amelogenin X-linked","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23251683[PMID]","hgnc":"461","ensembl":"ENSG00000125363","omim":"300391","loci":["Xp22.2"]},{"symbol":"KLK4","name":"kallikrein related peptidase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21597265[PMID]","hgnc":"6365","ensembl":"ENSG00000167749","omim":"603767","loci":["19q13.41"]},{"symbol":"MMP20","name":"matrix metallopeptidase 20","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15744043[PMID]","hgnc":"7167","ensembl":"ENSG00000137674","omim":"604629","loci":["11q22.2"]},{"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":"24621671[PMID]","hgnc":"10978","ensembl":"ENSG00000140090","omim":"609840","loci":["14q32.12"]},{"symbol":"WDR72","name":"WD repeat domain 72","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19853237[PMID]","hgnc":"26790","ensembl":"ENSG00000166415","omim":"613214","loci":["15q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked dominant"],"onset":[],"prevalence":[],"phenotypes":null}