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ENAchromatopsia 3 (ACHM3)
Alias:
Pingelapese Blindness
Total Colorblindness with Myopia
Achromatopsia with Myopia
Achm3
Rod Monochromatism 1, Formerly
Rod Monochromacy 1, Formerly
Achm1, Formerly
Achromatopsia, Type 3
Rod Monochromatism 1
Rod Monochromacy 1
Rmch1, Formerly
Achromatopsia-3
Achm1
Rmch1
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Achromatopsia 3, also known as pingelapese blindness, is related to pathologic nystagmus and achromatopsia, and has symptoms including photophobia An important gene associated with Achromatopsia 3 is CNGB3 (Cyclic Nucleotide Gated Channel Subunit Beta 3), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Nanog in Mammalian ESC Pluripotency. Affiliated tissues include retina and eye, and related phenotypes are nystagmus and photophobia
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MALACARDS
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