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Entry Name Description Category Pathway Gene
H02521 Diets-Jongmans syndrome ... characterized by intellectual disability, short stature, and facial dysmorphism. DIJOS is caused by mutations in KDM3B that encodes a histone demethylase. KDM3B is involved in H3K9 demethylation, a crucial part of ... Congenital malformation KDM3B [HSA:51780] [KO:K15601]
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