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Entry Name Description Category Pathway Gene
H00971 Achromatopsia
Rod monochromacy
Achromatopsia (Rod monochromacy/ACHM) is an autosomal recessive retinal dystrophy with a prevalence of 1 in 33,000 individuals. It is characterized by low visual acuity, photophobia, nystagmus, difficulty ... Nervous system disease (ACHM2) CNGA3 [HSA:1261] [KO:K04950]
(ACHM3) CNGB3 [HSA:54714] [KO:K04953]
(ACHM4) GNAT2 [HSA:2780] [KO:K04631]
(ACHM5) PDE6C [HSA:5146] [KO:K13757]
(ACHM6) PDE6H [HSA:5149] [KO:K13760]
(ACHM7) ATF6 [HSA:22926] [KO:K09054]
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