| Disease ID | Source | Name | Description |
| 267750 | OMIM | Knobloch syndrome 1 (KNO1) | A developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia. The disease is caused by variants affecting the gene represented in this entry. |
| 618880 | OMIM | Glaucoma, primary closed-angle (GLCC) | An autosomal dominant form of primary glaucoma, an ocular disease characterized by a marked increase of intraocular pressure causing damage to eye structures and function. GLCC is characterized by elevated intraocular pressure due to iridocorneal angle closure with retention of the aqueous humor in the anterior chamber. Iridocorneal angle changes are apparent in the fourth to fifth decade of life, and patients manifest age-related variation in the severity of glaucomatous damage. The disease may be caused by variants affecting the gene represented in this entry. |