|Dataset||HPO Gene-Disease Associations|
|Category||disease or phenotype associations|
|Description||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. (Human Disease Ontology, DOID_0050679)|
|Downloads & Tools|
2 genes associated with the blue cone monochromacy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.