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Entry | Name | Description | Category | Pathway | Gene |
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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] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |