| Metadata | |
|---|---|
| ID | DOID:0112180 |
| Name | urocanase deficiency |
| 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. https://pubmed.ncbi.nlm.nih.gov/19304569/, https://pubmed.ncbi.nlm.nih.gov/6107814/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:60952007 |
| Subsets |
DO_rare_slim |
| Synonyms |
encephalopathy due to urocanase deficiency [EXACT] high urine urocanic acid levels [EXACT] urocanate hydratase deficiency [EXACT] urocanic aciduria [EXACT] UROCD [EXACT] |
| Parent Relationships |