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ENAchromatopsia (ACHM)
Alias:
Total Color Blindness
Rod Monochromatism
Rod Monochromacy
Achm
Complete or Incomplete Color Blindness
Pingelapese Blindness
Achromatopsia 2
Achromatopsia 3
Achromatopsia 1
Monochromatism
Achromatism
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Achromatopsia, also known as total color blindness, is related to achromatopsia 2 and achromatopsia 3, and has symptoms including photophobia An important gene associated with Achromatopsia is PDE6C (Phosphodiesterase 6C), and among its related pathways/superpathways are Olfactory Signaling Pathway and CREB Pathway. The drugs Phenylbutyric acid and Glycerin have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are photophobia and color vision defect
Related ID：
MESH：D003117
Basic Information
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MALACARDS
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