3 beta-hydroxysteroid dehydrogenase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| 3 beta-Hydroxysteroid dehydrogenase deficiency | C0342471 | HSD3B2 | Causal Pathogenic evidence from ClinVar | 7608265, 7633426, 7633460, 7833923, 7893703, 7962268, 8060486, 8126127, 8185809, 8316254, 9719627, 10599696, 10651755, 10843183, 12050213, 18252794, 22579964, 25526675 | ClinVar |