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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hypoadrenalism
Comorbidity C0001627|congenital adrenal hyperplasia
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PubMedID- 23920000 The novel mutation p.trp147arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,xy disorder of sex development.

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