{"orpha":697101,"name":"Fontaine progeroid syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-697101/","orphanet_url":"https://www.orpha.net/en/disease/detail/697101","names":{"fr":{"name":"Syndrome progéroïde de Fontaine"},"de":{"name":"Fontaine-Progeroid-Syndrom"},"es":{"name":"Síndrome progeroide de Fontaine"},"it":{"name":"Sindrome progeroide di Fontaine"},"nl":{"name":"Progeroïd syndroom, Fontaine-type"},"pt":{"name":"Fontaine progeroid syndrome"},"pl":{"name":"Fontaine progeroid syndrome"},"cs":{"name":"Fontaine progeroid syndrome"}},"xrefs":[{"source":"OMIM","code":"612289","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"LD2B","qualifier":"NTBT","icd_relation":"attributed","validated":false}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79389,"name":"Premature aging","classifications":[156,187]},{"orpha":139033,"name":"Progeroid syndrome","classifications":[147]},{"orpha":139030,"name":"Rare developmental defect with connective tissue involvement","classifications":[147,156]},{"orpha":619249,"name":"Rare hereditary connective tissue disease","classifications":[156]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[{"orpha":2095,"name":"Gorlin-Chaudhry-Moss syndrome","type":"Clinical subtype"},{"orpha":2963,"name":"Progeroid syndrome, Petty type","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"SLC25A24","name":"solute carrier family 25 member 24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100093[PMID]","hgnc":"20662","ensembl":"ENSG00000085491","omim":"608744","loci":["1p13.3"],"via":{"orpha":2095,"name":"Gorlin-Chaudhry-Moss syndrome"}},{"symbol":"SLC25A24","name":"solute carrier family 25 member 24","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29100094[PMID]","hgnc":"20662","ensembl":"ENSG00000085491","omim":"608744","loci":["1p13.3"],"via":{"orpha":2963,"name":"Progeroid syndrome, Petty type"}}],"inheritance":["Autosomal dominant"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":13.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}