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DOID:0050679 - blue cone monochromacy
Disease Ontology 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.
Synonyms:
Echinobase Genes : opn1lw
MIM:303700 - blue cone monochromacy; bcm |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
achromatopsia (is_a)