X-linked adrenal hypoplasia congenita

MONDO:0010264

A X-linked condition characterized by underdevelopment of the adrenal gland and adrenal insufficiency caused by mutation(s) in the NR0B1 gene, resulting in decreased activity of the nuclear receptor protein DAX1, which may be associated with hypogonadotropic hypogonadism.

Also known as: AHC, adrenal hypoplasia congenita, X-linked adrenal hypoplasia congenita, X-linked congenital adrenal hypoplasia, adrenal hypoplasia, congenital, X-linked recessive, AHC with HHG, AHC with isolated gonadotropin deficiency, Addison disease, X-linked

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