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- Bf4598a9451eafdb5f902fb41df1a7fac hasDbXref "Orphanet:210128" @default.
- Bf4598a9451eafdb5f902fb41df1a7fac type Axiom @default.
- Bf4598a9451eafdb5f902fb41df1a7fac annotatedProperty IAO_0000115 @default.
- Bf4598a9451eafdb5f902fb41df1a7fac annotatedSource MONDO_0010167 @default.
- Bf4598a9451eafdb5f902fb41df1a7fac annotatedTarget "Encephalopathy due to urocanase deficiency is an extremely rare histidine metabolism disorder characterized by urocanic aciduria and other variable manifestations including intellectual deficit and intermittent ataxia in the 4 cases reported to date." @default.