congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
POR deficiency
exact
PORD
exact
congenital adrenal hyperplasia due to cytochrome POR deficiency
exact
disordered steroidogenesis due to cytochrome P450 oxidoreductase
related
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
SPBC29A10.01