Matches in Ubergraph for { <http://purl.obolibrary.org/obo/NCIT_C6432> ?p ?o ?g. }
- NCIT_C6432 IAO_0000115 "An autosomal dominant inherited neoplastic syndrome characterized by the development of various endocrine neoplasms and abnormalities in various anatomic sites. There are four types recognized: type 1 (MEN 1), caused by inactivation of the tumor suppressor gene MEN-1, type 2A (MEN 2A), caused by mutation of the RET gene, type 2B (MEN 2B) also caused by mutation of the RET gene, and type 4 (MEN 4) caused by mutation of the CDKN1B gene. Patients with MEN 1 may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors. Patients with MEN 2A develop medullary thyroid carcinomas and may also develop pheochromocytomas and parathyroid gland hyperplasia. Patients with MEN 2B develop medullary thyroid carcinomas and numerous neural defects including neuromas. Patients with MEN 4 develop endocrine neoplasms, particularly in the parathyroid glands, pituitary, and pancreas." @default.
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- NCIT_C6432 NCIT_NHC0 "C6432" @default.
- NCIT_C6432 NCIT_P106 "Neoplastic Process" @default.
- NCIT_C6432 NCIT_P107 "Multiple Endocrine Neoplasia" @default.
- NCIT_C6432 NCIT_P108 "Multiple Endocrine Neoplasia" @default.
- NCIT_C6432 NCIT_P207 "C1955745" @default.
- NCIT_C6432 NCIT_P322 "CTRP" @default.
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- NCIT_C6432 NCIT_P322 "NICHD" @default.
- NCIT_C6432 NCIT_P325 "A genetically heterogenous group of autosomal dominant neoplastic syndromes characterized by the development of neoplasms in various endocrine organs." @default.
- NCIT_C6432 NCIT_P325 "An inherited condition that may result in the development of cancers of the endocrine system. There are several types of multiple endocrine neoplasia syndrome, and patients with each type may develop different types of cancer. The altered genes that cause each type can be detected with a blood test." @default.
- NCIT_C6432 NCIT_P334 "8360/1" @default.
- NCIT_C6432 NCIT_P363 "Undetermined" @default.
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- NCIT_C6432 NCIT_P375 "Endocrine adenomatosis" @default.
- NCIT_C6432 NCIT_P375 "Multiple endocrine adenomas" @default.
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- NCIT_C6432 normalizedInformationContent "79.251926409996102" @default.
- NCIT_C6432 referenceCount "23" @default.
- NCIT_C6432 hasExactSynonym "Endocrine adenomatosis" @default.
- NCIT_C6432 hasExactSynonym "MEN Syndromes" @default.
- NCIT_C6432 hasExactSynonym "MEN syndrome" @default.
- NCIT_C6432 hasExactSynonym "MEN" @default.
- NCIT_C6432 hasExactSynonym "Multiple Endocrine Adenomatosis" @default.
- NCIT_C6432 hasExactSynonym "Multiple Endocrine Neoplasia Syndrome" @default.
- NCIT_C6432 hasExactSynonym "Multiple Endocrine Neoplasia Syndrome(s)" @default.
- NCIT_C6432 hasExactSynonym "Multiple Endocrine Neoplasia" @default.
- NCIT_C6432 hasExactSynonym "Multiple endocrine adenomas" @default.
- NCIT_C6432 hasExactSynonym "multiple endocrine adenomatosis" @default.
- NCIT_C6432 hasExactSynonym "multiple endocrine neoplasia syndrome" @default.
- NCIT_C6432 inSubset NCIT_C116977 @default.
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- NCIT_C6432 type Class @default.
- NCIT_C6432 isDefinedBy ncit.owl @default.
- NCIT_C6432 label "Multiple Endocrine Neoplasia" @default.
- NCIT_C6432 subClassOf NCIT_C27551 @default.
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