| Metadata | |
|---|---|
| ID | DOID:0050679 |
| Name | blue cone monochromacy |
| Definition | 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. http://omim.org/entry/303700, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a achromatopsia |