| Disease ID | Source | Name | Description |
| 303700 | OMIM | Blue cone monochromacy (BCM) | A rare X-linked congenital stationary cone dysfunction syndrome characterized by the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina. Color discrimination is severely impaired from birth, and vision is derived from the remaining preserved blue (S) cones and rod photoreceptors. BCM typically presents with reduced visual acuity, pendular nystagmus, and photophobia. Patients often have myopia. The disease is caused by variants affecting the gene represented in this entry. |
| 303900 | OMIM | Colorblindness, partial, protan series (CBP) | A color vision defect characterized by a dichromasy in which red and green are confused, with loss of luminance and shift of brightness and hue curves toward the short wave end of the spectrum. Dichromasy is due to the use of only two types of photoreceptors, blue plus red in deuteranopia and blue plus green in protanopia. The disease is caused by variants affecting the gene represented in this entry. |