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Entry Name Description Category Pathway Gene
H02445 Microcornea, myopic chorioretinal atrophy, and telecanthus Microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is a syndrome caused by mutations in ADAMTS18. ADAMTS18 encodes a member of a family of metallo-proteases that are known for their role in ... Congenital malformation ADAMTS18 [HSA:170692] [KO:K08632]
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