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DeCS
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Descriptor English:
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Multiple Endocrine Neoplasia Type 2a
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Descriptor Spanish:
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Neoplasia Endocrina Múltiple Tipo 2a
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Descriptor Portuguese:
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Neoplasia Endócrina Múltipla Tipo 2a
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Synonyms English:
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MEN 2
MEN 2a
Neoplasia, Multiple Endocrine Type 2a
Neoplasms, Multiple Endocrine Type 2a
Sipple Syndrome
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Tree Number:
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C04.588.322.400.505
C04.651.600.505
C04.700.630.505
C16.320.700.630.505
C19.344.400.505
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Definition English:
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A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (CARCINOMA, MEDULLARY) of the THYROID GLAND, and usually with the co-occurrence of PHEOCHROMOCYTOMA, producing CALCITONIN and ADRENALINE, respectively. Less frequently, it can occur with hyperplasia or adenoma of the PARATHYROID GLANDS. This disease is due to gain-of-function mutations of the MEN2 gene on CHROMOSOME 10 (Locus: 10q11.2), also known as the RET proto-oncogene that encodes a RECEPTOR PROTEIN-TYROSINE KINASE. It is an autosomal dominant inherited disease. |
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Indexing Annotation English:
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coordinate IM with specific endocrine/neoplasm pre-coordinates (IM) + specific histological type (IM) if pertinent
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History Note English:
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95; MEA II, MEN II, & SIPPLE SYNDROME were see NEOPLASMS, MULTIPLE ENDOCRINE 1983-94
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Allowable Qualifiers English:
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Record Number:
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32133
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Unique Identifier:
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D018813
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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