About: Carney-Stratakis Syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Carney-Stratakis Syndrome
rdfs:subClassOf
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Carney-Stratakis Syndrome
UMLS_CUI
  • C1847319
ALT_DEFINITION
  • A rare, inherited disorder marked by tumors of the gastrointestinal tract and tumors that form in embryonic nervous tissue in the head, neck, and torso.NCI-GLOSS
FULL_SYN
  • Carney dyadPTNCI-GLOSSCDR0000648578
  • Carney-Stratakis syndromePTNCI-GLOSSCDR0000648579
  • Carney-Stratakis SyndromePTNCI
  • Carney-Stratakis dyadSYNCI-GLOSSCDR0000648580
DEFINITION
  • A rare, autosomal dominant inherited neoplastic syndrome caused by mutations in the genes that code the succinate dehydrogenase protein complex. It is charcaterized by the presence of gastrointestinal stromal tumors and paragangliomas.NCI
code
  • C94831
http://linked.open...y/mesh/hasConcept
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