X-linked adrenal hypoplasia congenita
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.
MONDO:0000425
X-linked disease
is_a
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015129
chronic primary adrenal insufficiency
is_a
MONDO:0015770
congenital hypogonadotropic hypogonadism
is_a
MONDO:0016241
alternating hemiplegia of childhood
is_a
AHC
broad
X-linked AHC
related
X-linked adrenal hypoplasia congenita
exact
X-linked congenital adrenal hypoplasia
exact
adrenal hypoplasia congenita
broad
adrenal hypoplasia, congenital
related
adrenal hypoplasia, congenital, X-linked recessive
exact