| Disease ID | Source | Name | Description |
| 611719 | OMIM | Combined oxidative phosphorylation deficiency 5 (COXPD5) | A mitochondrial disease resulting in severe metabolic acidosis, edema, hypertrophic cardiomyopathy, tubulopathy, and hypotonia. The disease is caused by variants affecting the gene represented in this entry. |
| 618117 | OMIM | Ovarian dysgenesis 7 (ODG7) | A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG7 is an autosomal recessive condition. The disease may be caused by variants affecting the gene represented in this entry. |