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Standards Ontologies Notations
blue cone monochromacy

Summary
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.
Super Class
X-linked recessive disease achromatopsia
Disease Ontology
DOID:0050679
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
2652 OPN1MW opsin 1, medium wave sensitive
5956 OPN1LW opsin 1, long wave sensitive
728458 OPN1MW2 opsin 1, medium wave sensitive 2
101060233 OPN1MW3 opsin 1, medium wave sensitive 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
14539 Opn1mw opsin 1 (cone pigments), medium-wave-sensitive (color blindness, deutan)
Displaying 1 entry
Gene ID Gene Symbol Description Source
89810 Opn1mw opsin 1, medium wave sensitive
Displaying all 2 entries
Gene ID Gene Symbol Description Source
30413 opn1lw1 opsin 1 (cone pigments), long-wave-sensitive, 1
436716 opn1lw2 opsin 1 (cone pigments), long-wave-sensitive, 2
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
399310 opn1lw.L opsin 1 (cone pigments), long-wave-sensitive L homeolog Xenopus laevis (African clawed frog)
The Human Phenotype Ontology
Displaying all 5 entries
HPO ID HPO Term
HP:0000551 Color vision defect
HP:0000662 Nyctalopia
HP:0000505 Visual impairment
HP:0007703 Abnormality of retinal pigmentation
HP:0000613 Photophobia
Displaying 1 entry
Gene ID Gene Symbol Description
93589 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4
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International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024