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Achromatopsia 2 MeSH Supplementary Concept Data 2022


MeSH Supplementary
Achromatopsia 2
Unique ID
C536128
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C536128
Entry Term(s)
ACHM2
Colorblindness, Total
RMCH2
Rod monochromacy 2
Rod monochromatism 2
Total color blindness
Registry Number
0
Heading Mapped to
*Color Vision Defects
Frequency
20
Note
A rare hereditary form of colorblindness characterized by PHOTOPHOBIA; NYSTAGMUS; reduced visual acuity, and a complete inability to discriminate between colors. It is caused by mutations in the CNGA3 gene. OMIM: 216900
Date of Entry
2010/06/25
Revision Date
2016/09/29
Achromatopsia 2 Preferred
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