. _:vb50946236 . . _:vb50946236 . "DOID:0112180"^^ . "ORDO:210128"^^ . _:vb50946236 . "MESH:C536479"^^ . "UMLS_CUI:C0268514"^^ . "encephalopathy due to urocanase deficiency"^^ . "OMIM:276880"^^ . "urocanic aciduria"^^ . "urocanase deficiency"^^ . "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in UROC1 on chromosome 3q21.3."^^ . _:vb50946236 . . "SNOMEDCT_US_2021_09_01:60952007"^^ . . "GARD:8539"^^ . "UROCD"^^ . "urocanate hydratase deficiency"^^ . _:vb50946236 . "high urine urocanic acid levels"^^ . "disease_ontology"^^ .