About: Carney Complex     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
  • Carney Complex
equivalentClass
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Carney Complex
UMLS_CUI
  • C0406810
ALT_DEFINITION
  • A rare, inherited disorder marked by dark spots on the skin and tumors in the heart, endocrine glands, skin, and nerves. There are two types of Carney complex, which are caused by mutations (changes) in different genes.NCI-GLOSS
Legacy_Concept_Name
  • Carney_Complex
FULL_SYN
  • Nevi, Atrial Myxoma, Skin Myxoma, Ephelides SyndromeSYNCI
  • Carney ComplexPTNCI
  • CNCABNCI
  • Carney SyndromeSYNCI
  • LAMBABNCI
  • Carney's SyndromeSYNCI
  • Carney complexPTNCI-GLOSSCDR0000597110
  • Atrial Myxoma with LentiginesSYNCI
  • Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus SyndromeSYNCI
  • Carney syndromePTNCI-GLOSSCDR0000648572
DEFINITION
  • An autosomal dominant disorder most often caused by mutations in the PRKAR1A gene. It is characterized by the presence of myxomas in the heart and skin, skin hyperpigmentation, increased endocrine activity and schwannomas.NCI
code
  • C4705
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