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- B5d193d99632a59cf46858bf6325bf4c9 NCIT_P378 "NCI" @default.
- B5d193d99632a59cf46858bf6325bf4c9 type Axiom @default.
- B5d193d99632a59cf46858bf6325bf4c9 annotatedProperty IAO_0000115 @default.
- B5d193d99632a59cf46858bf6325bf4c9 annotatedSource NCIT_C98699 @default.
- B5d193d99632a59cf46858bf6325bf4c9 annotatedTarget "An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism." @default.