{"orpha":726807,"name":"PTEN hamartoma of soft tissue","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["PHOST"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-726807/","orphanet_url":"https://www.orpha.net/en/disease/detail/726807","names":{"fr":{"name":"Hamartome des tissus mous associé à PTEN","synonyms":["PHOST"]},"de":{"name":"PTEN-Hamartom des Weichgewebes","synonyms":["PHOST"]},"es":{"name":"Hamartoma de tejido blando asociado al gen PTEN","synonyms":["PHOST"]},"it":{"name":"Amartoma dei tessuti molli correlato a PTEN","synonyms":["PHOST"]},"nl":{"name":"PTEN-hamartoom van weke delen","synonyms":["PHOST"]},"pt":{"name":"PTEN hamartoma of soft tissue"},"pl":{"name":"PTEN hamartoma of soft tissue","synonyms":["PHOST"]},"cs":{"name":"PTEN hamartoma of soft tissue","synonyms":["PHOST"]}},"xrefs":[],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":723518,"name":"Isolated combined vascular malformation","classifications":[147,198]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":707944,"name":"Peripheral fast-flow vascular malformation","classifications":[147,198]},{"orpha":715334,"name":"Unifocal peripheral venous malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"PTEN","name":"phosphatase and tensin homolog","gene_type":"gene with protein product","association":"Disease-causing somatic mutation(s) in","status":"Assessed","source":"33105631[PMID]","hgnc":"9588","ensembl":"ENSG00000171862","omim":"601728","loci":["10q23.31"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}