| Dataset | HPO Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | phenotype |
| 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) |
| External Link | http://compbio.charite.de/hpoweb/showterm?id=HP:0007939 |
| Similar Terms | |
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2 genes associated with the blue cone monochromacy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
