Search Ontology:
Human Disease

blue cone monochromacy

Term ID
DOID:0050679
Synonyms
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. (2)
References
Ontology
Human Disease   ( DOID:0050679 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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