OBO ID: DOID:0112180
Term Name: urocanase deficiency Search Ontology:
Synonyms:
  • encephalopathy due to urocanase deficiency
  • high urine urocanic acid levels
  • urocanate hydratase deficiency
  • urocanic aciduria
  • UROCD
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 UROC1 on chromosome 3q21.3. (2)
References:
Ontology: Human Disease   (DOID:0112180)
OTHER urocanase deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
UROC1 ?Urocanase deficiency 276880
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None