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Entry Name Description Category Pathway Gene
H01012 Oculo-auricular syndrome ... ocular abnormalities include bilateral microcornea, posterior synechiae, cataract, chorioretinal colobomas, and rod-cone dystrophy. Mutation in the human Hmx1 ortholog HMX1 (NKX5-3) results in this disease. Congenital malformation HMX1 [HSA:3166] [KO:K09349]
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