OBO ID: DOID:0050679
Term Name: blue cone monochromacy Search Ontology:
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 blue cone monochromacy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
OPN1LW Blue cone monochromacy 303700
OPN1MW Blue cone monochromacy
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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