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Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C3105> ?p ?o ?g. }

• NCIT_C3105 IAO_0000115 "An inherited familial cancer syndrome which is characterized by development of capillary hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma; pheochromocytoma; pancreatic tumors; and inner ear tumors. The syndrome is associated with germline mutations of the VHL tumor suppressor gene, located on chromosome 3p25-26. Symptoms of VHL syndrome may not be apparent until the third decade of life. CNS hemangioblastoma is the most common cause of death, followed by clear cell renal cell carcinoma. --2004" @default.
• NCIT_C3105 NCIT_A13 NCIT_C18261 @default.
• NCIT_C3105 NCIT_A32 NCIT_C17103 @default.
• NCIT_C3105 NCIT_NHC0 "C3105" @default.
• NCIT_C3105 NCIT_P106 "Disease or Syndrome" @default.
• NCIT_C3105 NCIT_P107 "Von Hippel-Lindau Syndrome" @default.
• NCIT_C3105 NCIT_P108 "Von Hippel Lindau Syndrome" @default.
• NCIT_C3105 NCIT_P207 "C0019562" @default.
• NCIT_C3105 NCIT_P322 "CCPS" @default.
• NCIT_C3105 NCIT_P322 "CTRP" @default.
• NCIT_C3105 NCIT_P322 "Cellosaurus" @default.
• NCIT_C3105 NCIT_P322 "GDC" @default.
• NCIT_C3105 NCIT_P322 "NICHD" @default.
• NCIT_C3105 NCIT_P325 "A rare inherited disorder in which blood vessels grow abnormally in the eyes, brain, spinal cord, adrenal glands, or other parts of the body. People with von Hippel-Lindau syndrome have a higher risk of developing some types of cancer." @default.
• NCIT_C3105 NCIT_P325 "An autosomal dominant multiple neoplasia syndrome caused by germline mutations of the VHL gene, encoding the protein von Hippel-Lindau tumor suppressor (pVHL). The condition is characterized by development of capillary hemangioblastomas of the central nervous system and retina, clear cell renal carcinoma, pheochromocytoma, pancreatic tumors, and inner ear tumors (endolymphatic sac tumors)." @default.
• NCIT_C3105 NCIT_P366 "Von_Hippel-Lindau_Syndrome" @default.
• NCIT_C3105 NCIT_P375 "Von Hippel-Lindau Syndrome" @default.
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• NCIT_C3105 NCIT_R116 NCIT_C9384 @default.

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