{"orpha":306658,"name":"Familial normophosphatemic tumoral calcinosis","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-306658/","orphanet_url":"https://www.orpha.net/en/disease/detail/306658","names":{"fr":{"name":"Calcinose tumorale normophosphatémique familiale"},"de":{"name":"Normophosphatämische tumorale Kalzinose, familiäre Form"},"es":{"name":"Calcinosis tumoral normofosfatémica familiar"},"it":{"name":"Calcinosi tumorale normofosfatemica familiare"},"nl":{"name":"Familiale normofosfatemische tumorale calcinose"},"pt":{"name":"Calcinose tumoral normocalcémica"},"pl":{"name":"Normokalcemiczna kalcynoza guzowata"},"cs":{"name":"Familiární normofosfatemická tumorová kalcinóza"},"uk":{"name":"Сімейний нормофосфатемічний пухлинний кальциноз"},"zh":{"name":"血磷正常性家族性肿瘤样钙沉着症"},"tr":{"name":"Ailesel normofosfatemik tümöral kalsinoz"}},"xrefs":[{"source":"OMIM","code":"610455","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M11.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0012502","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566473","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1864861","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10878","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":89826,"name":"Rare skin disease"},"parents":[{"orpha":53715,"name":"Familial tumoral calcinosis","classifications":[147,156,187,193,199,202]}],"children":[],"genes":[{"symbol":"SAMD9","name":"sterile alpha motif domain containing 9","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16960814[PMID]_18094730[PMID]","hgnc":"1348","ensembl":"ENSG00000205413","omim":"610456","loci":["7q21.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[],"phenotypes":null}