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Items: 3

1.

Neuroblastoma, susceptibility to, 1

MedGen UID:
412713
Concept ID:
C2749485
Finding
2.

Elevated urinary dopamine level

The concentration of dopamine in the urine, normalized for urine concentration, is above the upper limit of normal. [from HPO]

MedGen UID:
868696
Concept ID:
C4023099
Finding
3.

Multiple endocrine neoplasia type 2A

Multiple endocrine neoplasia type 2 (MEN2) includes the following phenotypes: MEN2A, FMTC (familial medullary thyroid carcinoma, which may be a variant of MEN2A), and MEN2B. All three phenotypes involve high risk for development of medullary carcinoma of the thyroid (MTC); MEN2A and MEN2B involve an increased risk for pheochromocytoma; MEN2A involves an increased risk for parathyroid adenoma or hyperplasia. Additional features in MEN2B include mucosal neuromas of the lips and tongue, distinctive facies with enlarged lips, ganglioneuromatosis of the gastrointestinal tract, and a marfanoid habitus. MTC typically occurs in early childhood in MEN2B, early adulthood in MEN2A, and middle age in FMTC. [from GeneReviews]

MedGen UID:
9958
Concept ID:
C0025268
Neoplastic Process
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