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Entry Name Description Category Pathway Gene
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]
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