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Browse result for Achromatopsia

※ introduction

    Achromatopsia, also known as Rod monochromacy, is a medical syndrome that exhibits symptoms relating to five conditions, most notably monochromacy. Historically, the name referred to monochromacy in general, but now typically refers only to an autosomal recessive congenital color vision condition. The term is also used to describe cerebral achromatopsia, though monochromacy is usually the only common symptom. The conditions include: monochromatic color blindness, poor visual acuity, and day-blindness. The syndrome is also present in an incomplete form that exhibits milder symptoms, including residual color vision. Achromatopsia is estimated to affect 1 in 30,000 live births worldwide.

Reference
Wiki: Achromatopsia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD05415P511605146
PDE6C
Cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha'
Homo sapiens