| Disease ID | Source | Name | Description |
| 613702 | OMIM | Klippel-Feil syndrome 3, autosomal dominant (KFS3) | A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. The disease is caused by variants affecting the gene represented in this entry. |
| 613703 | OMIM | Microphthalmia, isolated, with coloboma, 6 (MCOPCB6) | 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. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). The disease is caused by variants affecting the gene represented in this entry. |
| 613704 | OMIM | Microphthalmia, isolated, 7 (MCOP7) | 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. |