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- B2a8e9a16f6e823a824bdb230fde2bbed hasDbXref "Orphanet:168558" @default.
- B2a8e9a16f6e823a824bdb230fde2bbed hasDbXref "https://orcid.org/0000-0001-5208-3432" @default.
- B2a8e9a16f6e823a824bdb230fde2bbed type Axiom @default.
- B2a8e9a16f6e823a824bdb230fde2bbed annotatedProperty IAO_0000115 @default.
- B2a8e9a16f6e823a824bdb230fde2bbed annotatedSource MONDO_0013400 @default.
- B2a8e9a16f6e823a824bdb230fde2bbed annotatedTarget "A rare, genetic, developmental defect during embryogenesis disorder characterized by severe, early-onset, salt-wasting adrenal insufficiency and ambiguous/female external genitalia (irrespective of chromosomal sex) due to mutations in the <i>CYP11A1</i> gene. Milder cases may present delayed onset of adrenal gland dysfunction and genitalia phenotype may range from normal male to female in individuals with 46,XY karyotype. Imaging studies reveal hypoplastic/absent adrenal glands and biochemical findings include low serum cortisol, mineralocorticoids, androgens, and sodium, with elevated potassium levels." @default.