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PedAM

Pediatric Disease Annotations & Medicines




Disease congenital adrenal hyperplasia
Phenotype C1565489|renal insufficiency
Sentences 2
PubMedID- 26500747 Primary adrenal insufficiency due to congenital adrenal hyperplasia (cah) was suspected.
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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