| 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 alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster. 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 |