Search Ontology:
Human Disease

urocanase deficiency

Term ID
DOID:0112180
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 the UROC1 gene on chromosome 3q21.3. (2)
References
Ontology
Human Disease   ( DOID:0112180 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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