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purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones

AttributesValues
rdf:type
owl:sameAs
description
  • Krankheit (de)
  • хвороба (uk)
  • maladie génétique rare (fr)
  • choroba genetyczna (pl)
  • quantità anormale di xantina rintracciata nelle urine che una rara forma di malattia (it)
  • purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones (en)
exact match
exact match
health specialty
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
Mondo ID
  • MONDO_0018106
DiseasesDB
  • 14194
  • 29821
Disease Ontology ID
  • DOID:0060236
rdfs:label
  • Xanthinurie (de)
  • ksantynuria (pl)
  • xanthinuria (en)
  • xanthinurie (fr)
  • xantinuria (it)
  • Ξανθινουρία (el)
  • بيلة زانثينية (ar)
  • گزانتینوری (fa)
skos:prefLabel
  • Xanthinurie (de)
  • ksantynuria (pl)
  • xanthinuria (en)
  • xanthinurie (fr)
  • xantinuria (it)
  • Ξανθινουρία (el)
  • بيلة زانثينية (ar)
  • گزانتینوری (fa)
name
  • Xanthinurie (de)
  • ksantynuria (pl)
  • xanthinuria (en)
  • xanthinurie (fr)
  • xantinuria (it)
  • Ξανθινουρία (el)
  • بيلة زانثينية (ar)
  • گزانتینوری (fa)
Freebase ID
Freebase ID
  • /m/06g9m3
instance of
instance of
subclass of
subclass of
eMedicine ID
eMedicine ID
  • 984002
Encyclopædia Britannica Online ID
Encyclopædia Britannica Online ID
  • science/xanthinuria
KEGG ID
KEGG ID
KEGG ID
  • H00192
GPnotebook ID
GPnotebook ID
  • 644546576
Orphanet ID
ICD-9-CM
genetic association
ICD-10-CM
OMIM ID
Orphanet ID
  • 3467
ICD-9-CM
  • 277.2
genetic association
ICD-10-CM
  • E79.8
OMIM ID
  • 278300
  • 603592
Human Phenotype Ontology ID
Human Phenotype Ontology ID
  • HP:0010934
skos:altLabel
  • Classic xanthinuria (en)
  • Hereditäre Xanthinurie (de)
  • Xanthic urolithiasis (en)
  • Xanthine stone disease (en)
  • niedobór oksydazy ksantynowej (pl)
  • xanthine dehydrogenase deficiency (en)
  • xanthine oxidase deficiency (en)
ScienceDirect topic ID
UMLS CUI
MeSH descriptor ID
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