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Entry Name Description Category Pathway Gene
H02522 Imagawa-Matsumoto syndrome ... syndrome is a very rare overgrowth syndrome that resembles Weaver syndrome [DS:H01751]. Mutations in SUZ12 cause this disease. SUZ12 is a core component of polycomb repressive complex 2 (PRC2) along with ... Congenital malformation SUZ12 [HSA:23512] [KO:K11463]
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