congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency is a unique form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, severe sexual ambiguity in both sexes and skeletal (especially craniofacial) malformations.
MONDO:0005039
reproductive system disorder
is_a
MONDO:0018479
congenital adrenal hyperplasia
is_a
POR deficiency
exact
PORD
exact
congenital adrenal hyperplasia due to cytochrome POR deficiency
exact
disordered steroidogenesis due to cytochrome P450 oxidoreductase
related
SPBC29A10.01