National Cancer Institute Thesaurus / 美国国家癌症研究所词典

Last uploaded: September 7, 2023

Preferred Name	Hereditary Paraganglioma-Pheochromocytoma Syndrome
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C190373
code	C190373
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516
Contributing_Source	CCPS
DEFINITION	A hereditary cancer syndrome characterized by the development of multiple paragangliomas including pheochromocytomas. It is caused by mutations in SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes.
FULL_SYN	Familial Pheochromocytoma-Paraganglioma Syndrome Hereditary Paraganglioma-Pheochromocytoma Syndrome Familial Paraganglioma-Pheochromocytoma Syndrome Hereditary Pheochromocytoma-Paraganglioma Syndrome
label	Hereditary Paraganglioma-Pheochromocytoma Syndrome
NCI_META_CUI	CL1798933
Preferred_Name	Hereditary Paraganglioma-Pheochromocytoma Syndrome
prefixIRI	Thesaurus:C190373
prefLabel	Hereditary Paraganglioma-Pheochromocytoma Syndrome
Semantic_Type	Disease or Syndrome
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3266

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