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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
  • hawkinsinuria
described by
id
  • DOID:0111362
database_cross_reference
  • GARD:5668
  • MESH:C535845
  • OMIM:140350
  • ORDO:2118
  • SNOMEDCT_US_2021_09_01:403001
  • UMLS_CUI:C2931042
has_exact_synonym
  • 4-HPPD deficiency (en)
  • 4-hydroxyphenylpyruvic acid dioxygenase deficiency (en)
  • 4-Alpha-hydroxyphenylpyruvate hydroxylase deficiency (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31.
is topic of
is annotatedSource of
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