|
| General Information | |||
|---|---|---|---|
| Term | urocanase deficiency | ID (Ontology) | DOID:0112180 (Human Disease) |
| 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. | ||
| Also Known As | "encephalopathy due to urocanase deficiency" ; "high urine urocanic acid levels" ; "urocanate hydratase deficiency" (for all, see Synonyms field below) | ||
| Comment | |||
| Links to External Ontologies | |||
| DO.org | |||
| Annotations | |||
| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|||
|
No relevant statements available
|
|||
|
||||||
autosomal genetic disease |__autosomal recessive disease___ amino acid metabolic disorder | |__histidine metabolism disease__| urocanase deficiency |
| Spanning Tree View Settings | |||
|---|---|---|---|
| Parents/Children View Depth |
|||
Relationships
|
|||
| Is a |
autosomal recessive disease histidine metabolism disease |
||
| Part of | |||
|
Synonyms & Secondary IDs
|
|||
| Synonyms | |||
|
|||
| Secondary IDs | |||
|
|
|||
|
External Crossreferences & Linkouts
|
|||
|
GARD:8539 MESH:C536479 MIM:276880 ORDO:210128 SNOMEDCT_US_2023_03_01:60952007 UMLS_CUI:C0268514 |
|||