{"orpha":98196,"name":"Malformation syndrome with hamartosis","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Dysmorphologic diseases with phakomatosis"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-98196/","orphanet_url":"https://www.orpha.net/en/disease/detail/98196","names":{"fr":{"name":"Syndrome malformatif associé à une hamartose","synonyms":["Syndrome dysmorphique avec phacomatose"]},"de":{"name":"Dysmorphie-Syndrom mit Hamartose","synonyms":["Dysmorphie-Syndrome mit Phakomatose"]},"es":{"name":"Síndrome malformativo con hamartosis","synonyms":["Enfermedades dismorfológicas con facomatosis"]},"it":{"name":"Sindrome dismorfica con amartosi"},"nl":{"name":"Malformatiesyndroom met hamartose","synonyms":["Dysmorfologische ziekte met facomatose"]},"pt":{"name":"Síndrome dismórfico com hamartose"},"pl":{"name":"Zespół malformacji z hamartozą","synonyms":["Choroba dysmorficzna z hamartozą"]},"cs":{"name":"Malformační hamartózní syndromy","synonyms":["Dysmorfologické nemoci s fakomatózou"]},"uk":{"name":"Синдром вади розвитку з гамартозом","synonyms":["Дисморфологічні захворювання з факоматозом"]},"zh":{"name":"畸形综合征伴错构瘤病","synonyms":["伴斑痣性错构瘤病的畸形病"]},"tr":{"name":"Hamartoz ile seyreden malformasyon sendromu","synonyms":["Fakomatozlu dismorfolojik hastalıklar"]}},"xrefs":[{"source":"UMLS","code":"C5680230","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":68388,"name":"OBSOLETE: Neurofibromatosis","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93890,"name":"Rare developmental defect during embryogenesis","classifications":[147]},{"orpha":183530,"name":"Rare genetic developmental defect during embryogenesis","classifications":[156]}],"children":[{"orpha":64755,"name":"Becker nevus syndrome","type":"Disease"},{"orpha":90308,"name":"Capillary-lymphatic-venous malformation with segmental distribution","type":"Disease"},{"orpha":2092,"name":"Focal dermal hypoplasia","type":"Malformation syndrome"},{"orpha":93921,"name":"Full schwannomatosis","type":"Disease"},{"orpha":377,"name":"Gorlin syndrome","type":"Malformation syndrome"},{"orpha":276280,"name":"Hemihyperplasia-multiple lipomatosis syndrome","type":"Malformation syndrome"},{"orpha":774,"name":"Hereditary hemorrhagic telangiectasia","type":"Disease"},{"orpha":1062,"name":"Hereditary neurocutaneous malformation","type":"Disease"},{"orpha":2612,"name":"Linear nevus sebaceus syndrome","type":"Disease"},{"orpha":163634,"name":"Maffucci syndrome","type":"Disease"},{"orpha":638,"name":"Neurofibromatosis-Noonan syndrome","type":"Malformation syndrome"},{"orpha":500,"name":"Noonan syndrome with multiple lentigines","type":"Malformation syndrome"},{"orpha":296,"name":"Ollier disease","type":"Disease"},{"orpha":306498,"name":"PTEN hamartoma tumor syndrome","type":"Disease"},{"orpha":2869,"name":"Peutz-Jeghers syndrome","type":"Disease"},{"orpha":2874,"name":"Phakomatosis pigmentokeratotica","type":"Malformation syndrome"},{"orpha":2875,"name":"Phakomatosis pigmentovascularis","type":"Disease"},{"orpha":3205,"name":"Sturge-Weber syndrome","type":"Malformation syndrome"},{"orpha":805,"name":"Tuberous sclerosis complex","type":"Disease"},{"orpha":892,"name":"Von Hippel-Lindau disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}