| Disease ID | Source | Name | Description |
| 201750 | OMIM | Antley-Bixler syndrome, with genital anomalies and disordered steroidogenesis (ABS1) | A disease characterized by the association of Antley-Bixler syndrome with steroidogenesis defects and abnormal genitalia. Antley-Bixler syndrome is characterized by craniosynostosis, radiohumeral synostosis present from the perinatal period, midface hypoplasia, choanal stenosis or atresia, femoral bowing and multiple joint contractures. The disease is caused by variants affecting the gene represented in this entry. |
| 613571 | OMIM | Disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency (DISPORD) | A disorder resulting in a rare variant of congenital adrenal hyperplasia, with apparent combined P450C17 and P450C21 deficiency and accumulation of steroid metabolites. Affected girls are born with ambiguous genitalia, but their circulating androgens are low and virilization does not progress. Conversely, affected boys are sometimes born undermasculinized. Boys and girls can present with bone malformations, in some cases resembling the pattern seen in patients with Antley-Bixler syndrome. The disease is caused by variants affecting the gene represented in this entry. |