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Metadata
DOID 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

GARD:917

OMIM:303700

Relationships

is_a achromatopsia

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