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AttributesValues
rdf:type
rdfs:label
  • Turcot Syndrome
equivalentClass
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Turcot Syndrome
UMLS_CUI
  • C0265325
Legacy_Concept_Name
  • Turcot_Syndrome
FULL_SYN
  • Turcot SyndromePTNCI
DEFINITION
  • An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis.NCI
code
  • C3938
is rdf:first of
is someValuesFrom of
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