NR5A1-related sex development disorder
A reproductive system disorder caused by a variation in the NR5A1 gene, and characterized by varying phenotypes, including partial or complete gonadal dysgenesis, ambiguous genitalia, and spermatogenic failure in the male, and premature ovarian failure and ovarian dysgenesis in the female.
MONDO:0003847
hereditary disease
is_a
MONDO:0005039
reproductive system disorder
is_a
NR5A1-related sex development disorder
exact