National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Carney-Stratakis Syndrome
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-Stratakis dyad Carney dyad
label	Carney-Stratakis Syndrome
Preferred_Name	Carney-Stratakis Syndrome
prefixIRI	C94831
prefLabel	Carney-Stratakis Syndrome
Semantic_Type	Disease or Syndrome
UMLS_CUI	C1847319
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3266

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/MESH/C564650	Medical Subject Headings	LOOM
	http://purl.obolibrary.org/obo/DOID_0080533	Human Disease Ontology 123	LOOM