{"orpha":100031,"name":"Hypoplastic amelogenesis imperfecta","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["Amelogenesis imperfecta type 1"],"definition":null,"note":"This disease is described under Amelogenesis imperfecta","url":"https://raremap.alftech.space/d/ORPHA-100031/","orphanet_url":"https://www.orpha.net/en/disease/detail/100031","names":{"fr":{"name":"Amélogenèse imparfaite hypoplasique","synonyms":["Amélogenèse imparfaite type 1"]},"de":{"name":"Amelogenesis imperfecta, hypoplastische","synonyms":["Amelogenesis imperfecta Typ 1"]},"es":{"name":"Amelogénesis imperfecta hipoplásica"},"it":{"name":"Amelogenesi imperfetta, tipo ipoplasico"},"nl":{"name":"Hypoplastische amelogenesis imperfecta","synonyms":["Amelogenesis imperfecta type 1"]},"pt":{"name":"Amelogénese imperfeita, tipo hipoplástica"},"pl":{"name":"Hipoplastyczny wrodzony niedorozwój szkliwa","synonyms":["Amelogenesis imperfecta typu 1"]},"cs":{"name":"Hypoplastická amelogenesis imperfecta","synonyms":["Amelogenesis imperfecta, typ 1"]},"uk":{"name":"Гіпопластичний амелогенез недосконалий","synonyms":["Недосконалий амелогенез тип 1"]},"zh":{"name":"发育不良性牙釉质发育不全","synonyms":["牙釉质发育不全1型"]},"tr":{"name":"Hipoplastik amelogenezis imperfekta","synonyms":["Amelogenesis imperfekta tip 1"]}},"xrefs":[{"source":"OMIM","code":"104500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"104530","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"204650","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301201","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616221","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616270","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617297","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":"2122401030"},{"source":"MONDO","code":"0015047","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538240","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0399367","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"645","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":"ACP4","name":"acid phosphatase 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27843125[PMID]","hgnc":"14376","ensembl":"ENSG00000142513","omim":"606362","loci":["19q13.33"]},{"symbol":"ITGB6","name":"integrin subunit beta 6","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24305999[PMID]","hgnc":"6161","ensembl":"ENSG00000115221","omim":"147558","loci":["2q24.2"]},{"symbol":"AMBN","name":"ameloblastin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24858907[PMID]","hgnc":"452","ensembl":"ENSG00000178522","omim":"601259","loci":["4q13.3"]},{"symbol":"ENAM","name":"enamelin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"11978766[PMID]_14684688[PMID]","hgnc":"3344","ensembl":"ENSG00000132464","omim":"606585","loci":["4q13.3"]},{"symbol":"LAMB3","name":"laminin subunit beta 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23632796[PMID]","hgnc":"6490","ensembl":"ENSG00000196878","omim":"150310","loci":["1q32.2"]},{"symbol":"SP6","name":"Sp6 transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"32167558[PMID]_33652941[PMID]","hgnc":"14530","ensembl":"ENSG00000189120","omim":"608613","loci":["17q21.32"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","X-linked dominant"],"onset":[],"prevalence":[],"phenotypes":null}