{"code":"C3335","name":"Rothmund-Thomson Syndrome","terminology":"ncit","version":"26.10d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Rothmund-Thompson Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"CCPS"},{"name":"Rothmund-Thomson Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"Cellosaurus"},{"name":"Rothmund-Thomson syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000662024"},{"name":"RTS","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000662025"},{"name":"Rothmund Thomson Syndrome","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Rothmund-Thomson Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"RTS","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Rothmund-Thomson Syndrome","type":"Preferred_Name","typeCode":"P108"},{"name":"Rothmund-Thomson Syndrome","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"PCDC","subSource":"OS"}],"definitions":[{"definition":"A rare inherited disorder that affects the skin and many other parts of the body, including the bones, eyes, nose, hair, nails, teeth, testes, and ovaries. People with Rothmund-Thomson syndrome have an increased risk of osteosarcoma (bone cancer).","code":"P325","type":"ALT_DEFINITION","source":"NCI-GLOSS"},{"definition":"An autosomal recessive inherited syndrome usually caused by mutations in the RECQL4 gene. It is characterized by poikilodermatous skin changes, sparse hair, cataracts, small stature, skeletal abnormalities, and an increased predisposition to cancer, particularly osteosarcoma.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"CCPS"},{"code":"P322","type":"Contributing_Source","value":"Cellosaurus"},{"code":"P322","type":"Contributing_Source","value":"PCDC"},{"code":"P366","type":"Legacy Concept Name","value":"Rothmund-Thomson_Syndrome"},{"type":"Logical_Definition","value":"true"},{"code":"P106","type":"Semantic_Type","value":"Disease or Syndrome"},{"code":"P207","type":"UMLS_CUI","value":"C0032339"}],"parents":[{"code":"C156032","name":"Genodermatosis","defining":true},{"code":"C3266","name":"Hereditary Neoplastic Syndrome","defining":true},{"code":"C35561","name":"Rare Neoplastic Syndrome","defining":true}],"roles":[{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C50575","relatedName":"Alopecia"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C50575","relatedName":"Alopecia","group":"Disease, Disorder or Finding"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C53302","relatedName":"Congenital Lesion"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C39570","relatedName":"Cutaneous Involvement"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C54062","relatedName":"Hereditary Lesion"},{"code":"R126","type":"Disease_Has_Associated_Disease","relatedCode":"C9227","relatedName":"Hypogonadism"},{"code":"R126","type":"Disease_Has_Associated_Disease","relatedCode":"C9227","relatedName":"Hypogonadism","group":"Disease, Disorder or Finding"},{"code":"R100","type":"Disease_Has_Associated_Anatomic_Site","relatedCode":"C12907","relatedName":"Integumentary System"},{"code":"R126","type":"Disease_Has_Associated_Disease","relatedCode":"C53975","relatedName":"Poikiloderma"},{"code":"R126","type":"Disease_Has_Associated_Disease","relatedCode":"C53975","relatedName":"Poikiloderma","group":"Disease, Disorder or Finding"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C42094","relatedName":"Rare Lesion"},{"code":"R126","type":"Disease_Has_Associated_Disease","relatedCode":"C35163","relatedName":"Skin Atrophy"},{"code":"R126","type":"Disease_Has_Associated_Disease","relatedCode":"C35163","relatedName":"Skin Atrophy","group":"Disease, Disorder or Finding"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C38004","relatedName":"Skin Photosensitivity"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C38004","relatedName":"Skin Photosensitivity","group":"Disease, Disorder or Finding"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C39594","relatedName":"Skin Rash"},{"code":"R108","type":"Disease_Has_Finding","relatedCode":"C39594","relatedName":"Skin Rash","group":"Disease, Disorder or Finding"},{"code":"R126","type":"Disease_Has_Associated_Disease","relatedCode":"C28194","relatedName":"Telangiectasia"},{"code":"R126","type":"Disease_Has_Associated_Disease","relatedCode":"C28194","relatedName":"Telangiectasia","group":"Disease, Disorder or Finding"}]}