About: Muir-Torre Syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Muir-Torre Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Muir-Torre Syndrome
UMLS_CUI
  • C1321489
FULL_SYN
  • Muir-Torre SyndromePTNCI
DEFINITION
  • A usually autosomal dominant inherited neoplastic syndrome caused by mutations in the hMSH-2 and hMLH-1 genes. It is characterized by the presence of sebaceous skin tumors (adenoma or carcinoma), and internal organ malignant tumors, usually of the gastrointestinal or genitourinary tract.NCI
code
  • C84905
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