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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:urocanase deficiency
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Accession:DOID:0112180 term browser browse the term
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. (DO)
Synonyms:exact_synonym: UROCD;   encephalopathy due to urocanase deficiency;   high urine urocanic acid levels;   urocanate hydratase deficiency;   urocanic aciduria
 primary_id: MESH:C536479
 alt_id: OMIM:276880
 xref: GARD:8539;   ORDO:210128
For additional species annotation, visit the Alliance of Genome Resources.


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urocanase deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Uroc1 urocanate hydratase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Urocanate hydratase deficiency
OMIM
CTD
ClinVar
PMID:18414213 PMID:19304569 PMID:25741868 PMID:28492532 NCBI chr 4:122,244,744...122,276,357
Ensembl chr 4:122,244,711...122,276,361
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Nutritional and Metabolic Diseases 5213
      disease of metabolism 5213
        inherited metabolic disorder 2358
          amino acid metabolic disorder 448
            histidine metabolism disease 2
              urocanase deficiency 1
Path 2
Term Annotations click to browse term
  disease 16918
    Developmental Disease 10571
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8883
        genetic disease 8399
          monogenic disease 6338
            autosomal genetic disease 5493
              autosomal recessive disease 3229
                urocanase deficiency 1
paths to the root