Disease ID | Source | Name | Description |
216900 | OMIM | Achromatopsia 2 (ACHM2) | An autosomal recessive, ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. The disease is caused by variants affecting the gene represented in this entry. |