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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