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Entry Name Description Category Pathway Gene
H01114 Ocular coloboma Ocular coloboma is a congenital and common malformation which includes a deficiency of the structures of the eye, such as the iris, retina, choroid, or optic disc. It is usually inherited as an autosomal ... Congenital malformation PAX6 [HSA:5080] [KO:K08031]
SALL2 [HSA:6297] [KO:K19871]
YAP1 [HSA:10413] [KO:K16687]
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