{"orpha":715640,"name":"Rothmund-Thomson syndrome type 3","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["RTS3"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-715640/","orphanet_url":"https://www.orpha.net/en/disease/detail/715640","names":{"fr":{"name":"Syndrome de Rothmund-Thomson type 3","synonyms":["RTS3"]},"de":{"name":"Rothmund-Thomson-Syndrom Typ 3","synonyms":["RTS3"]},"es":{"name":"Síndrome de Rothmund-Thomson tipo 3","synonyms":["RTS3","SRT3"]},"it":{"name":"Sindrome di Rothmund-Thomson tipo 3","synonyms":["RTS3"]},"nl":{"name":"Syndroom van Rothmund-Thomson type 3","synonyms":["RTS3"]},"pt":{"name":"Rothmund-Thomson syndrome type 3"},"pl":{"name":"Zespół Rothmunda-Thomsona typu 3","synonyms":["RTS3"]},"cs":{"name":"Rothmund-Thomson syndrome type 3","synonyms":["RTS3"]}},"xrefs":[{"source":"OMIM","code":"615789","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":"CRIPT","name":"CXXC repeat containing interactor of PDZ3 domain","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24389050[PMID]","hgnc":"14312","ensembl":"ENSG00000119878","omim":"604594","loci":["2p21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}