Preferred Name |
Carney-Stratakis Syndrome |
|
Synonyms |
Carney dyad Carney-Stratakis dyad Carney-Stratakis Syndrome Carney-Stratakis syndrome |
|
Definitions |
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. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94831 |
|
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. |
|
code |
C94831 |
|
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. |
|
FULL_SYN |
Carney dyad Carney-Stratakis dyad Carney-Stratakis Syndrome Carney-Stratakis syndrome |
|
label |
Carney-Stratakis Syndrome |
|
Preferred_Name |
Carney-Stratakis Syndrome |
|
prefixIRI |
Thesaurus:C94831 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C1847319 |
|
subClassOf |