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- B13bbe2b54afc6b09d2144a3055dfdaab NCIT_P378 "NICHD" @default.
- B13bbe2b54afc6b09d2144a3055dfdaab type Axiom @default.
- B13bbe2b54afc6b09d2144a3055dfdaab annotatedProperty NCIT_P325 @default.
- B13bbe2b54afc6b09d2144a3055dfdaab annotatedSource NCIT_C4705 @default.
- B13bbe2b54afc6b09d2144a3055dfdaab annotatedTarget "An autosomal dominant syndrome most often caused by heterozygous inactivating mutations in a potential tumor suppressor gene, PRKAR1A, encoding cAMP-dependent protein kinase type I-alpha regulatory subunit. This condition is characterized by increased risk of myxomas in the heart, psammomatous melanotic schwannomas and letigines, and tumors in many endocrine organs. A distinctive feature of this condition is primary pigmented nodular adrenocortical disease (PPNAD), which results in hyperadrenocortisolism. Pituitary gland involvement includes functional pituitary adenomas that result in excess growth hormone production." @default.