FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term achromatopsia 2 ID (Ontology) DOID:0110007 (Human Disease)
Definition An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11.
Also Known As "ACHM2" ; "RMCH2" ; "rod monochromacy 2" (for all, see Synonyms field below)
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DO.org
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 Genes
 achromatopsia 2       1
 for disease ribbon | achromatopsia 2       1
 model of | achromatopsia 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
color blindness                  |
 |__achromatopsia________________|
                                 achromatopsia 2  1 rec.
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Is a autosomal recessive disease
achromatopsia
Part of
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Synonyms
  • "ACHM2" EXACT OMO:0003012
    "RMCH2" EXACT OMO:0003012
    "rod monochromacy 2" EXACT
    "rod monochromatism 2" EXACT
Secondary IDs
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GARD:9649
MESH:C536128
MIM:216900