{"orpha":715635,"name":"Rothmund-Thomson syndrome type 4","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["RTS4"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-715635/","orphanet_url":"https://www.orpha.net/en/disease/detail/715635","names":{"fr":{"name":"Syndrome de Rothmund-Thomson type 4","synonyms":["RTS4"]},"de":{"name":"Rothmund-Thomson-Syndrom Typ 4","synonyms":["RTS4"]},"es":{"name":"Síndrome de Rothmund-Thomson tipo 4","synonyms":["RTS4","SRT4"]},"it":{"name":"Sindrome di Rothmund-Thomson tipo 4","synonyms":["RTS4"]},"nl":{"name":"Syndroom van Rothmund-Thomson type 4","synonyms":["RTS4"]},"pt":{"name":"Rothmund-Thomson syndrome type 4"},"pl":{"name":"Zespół Rothmunda-Thomsona typu 4","synonyms":["RTS4"]},"cs":{"name":"Rothmund-Thomson syndrome type 4","synonyms":["RTS4"]}},"xrefs":[{"source":"OMIM","code":"620819","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2909,"name":"Rothmund-Thomson syndrome","classifications":[147,156,187,189]}],"children":[],"genes":[{"symbol":"DNA2","name":"DNA replication helicase/nuclease 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"37055165[PMID]","hgnc":"2939","ensembl":"ENSG00000138346","omim":"601810","loci":["10q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}