| Disease ID | Source | Name | Description |
| 609549 | OMIM | Nanophthalmos 2 (NNO2) | Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes. The disease is caused by variants affecting the gene represented in this entry. |
| 611040 | OMIM | Microphthalmia, isolated, 5 (MCOP5) | A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. The disease is caused by variants affecting the gene represented in this entry. |