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VARIANT - TERM ANNOTATION REPORT

RGD ID: 8601514
Species: Homo sapiens
RGD Object: Variant
Symbol: CV36242
Name: NM_020975.6(RET):c.1853G>A (p.Cys618Tyr)
Acc ID: DOID:0050430
Term: multiple endocrine neoplasia type 2A
Definition: A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. (DO)
Definition Source(s): http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO" "DO", http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/15965261 "DO" "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
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