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Entry | Name | Description | Category | Pathway | Gene |
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H01806 | Tenorio syndrome | ... hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren's syndrome [DS:H01502]. Mutations in RNF125, encoding an E3 ubiquitin ligase, have been found from patients. It have been demonstrated that ... | Congenital malformation | RNF125 [HSA:54941] [KO:K12170] |
[ KEGG | DISEASE | DRUG | MEDICUS ] |