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Standards Ontologies Notations
achromatopsia 2

Summary
Synonym
  • ACHM2
  • RMCH2
  • rod monochromacy 2
  • rod monochromatism 2
Definition
An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11.
Super Class
achromatopsia autosomal recessive disease
Disease Ontology
DOID:0110007
Mondo Disease Ontology
MeSH
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1261 CNGA3 cyclic nucleotide gated channel subunit alpha 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
12790 Cnga3 cyclic nucleotide gated channel alpha 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
36806 CngA Cyclic nucleotide-gated ion channel subunit A
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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