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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease glucocorticoid resistance
Comorbidity C0001622|hypercortisolism
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PubMedID- 21042587 This germinal mutation results in partial glucocorticoid resistance associated with subclinical hypercortisolism, bilateral adrenal hyperplasia and hypertension but yet low mineralocorticoid levels, aldosterone and deoxycorticosterone, defining an apparent mineralocorticoid excess.

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