PedAM
Pediatric Disease Annotations & Medicines
| Disease | hypoadrenalism |
| Phenotype | C0001627|congenital adrenal hyperplasia |
| Sentences | 1 |
| 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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