achromatopsia

Summary
Synonym
  • ACHM
  • Monochromatism
Definition
A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance.
Super Class
color blindness
External Links
Disease Ontology
DOID:13911
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
MGI genotype (from TogoID)
Related Genes
Displaying entry 11 - 11 of 11 in total
Gene ID Gene Symbol Description Source
93589 CACNA2D4 calcium voltage-gated channel auxiliary subunit alpha2delta 4

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: August 19, 2024