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GlyTouCan
Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
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GlycanBuilder
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GALAXY
MCAW
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Guidelines
MIRAGE
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 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.
- Super Class
- X-linked recessive disease achromatopsia
External Links
- Disease Ontology
- DOID:0050679
- Mondo Disease Ontology
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P04000 | Long-wave-sensitive opsin 1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O35599 | Medium-wave-sensitive opsin 1 |
- The Human Phenotype Ontology
| 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 |
