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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • urocanase deficiency
described by
id
  • DOID:0112180
database_cross_reference
  • GARD:8539
  • MESH:C536479
  • OMIM:276880
  • ORDO:210128
  • SNOMEDCT_US_2021_09_01:60952007
  • UMLS_CUI:C0268514
has_exact_synonym
  • UROCD
  • encephalopathy due to urocanase deficiency
  • high urine urocanic acid levels
  • urocanate hydratase deficiency
  • urocanic aciduria
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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