Disease-gene associations mined from literature

Human genes for blue cone monochromacy

Blue cone monochromacy [DOID:0050679]

An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance.

Synonyms:  blue cone monochromacy,  DOID:0050679

Linkouts:  OMIM