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Summary Literature (0)
DOID:0112180 - urocanase deficiency

Disease Ontology Definition: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 the UROC1 gene on chromosome 3q21.3.

Synonyms: UROCD, encephalopathy due to urocanase deficiency, high urine urocanic acid levels, urocanate hydratase deficiency, urocanic aciduria,

Xenbase Genes : uroc1



Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), histidine metabolism disease (is_a)