About: dihydropyrimidine dehydrogenase deficiency     Goto   Sponge   NotDistinct   Permalink

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purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine

AttributesValues
rdf:type
description
  • Krankheit (de)
  • maladie (fr)
  • хвороба (uk)
  • purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine (en)
exact match
exact match
health specialty
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
Mondo ID
  • MONDO_0010130
DiseasesDB
  • 29817
Disease Ontology ID
  • DOID:14218
rdfs:label
  • کمبود دی هیدروپیریمیدین دهیدروژناز (fa)
  • DPD欠損症 (ja)
  • Dihydropyrimidin-Dehydrogenase-Mangel (de)
  • dihydropyrimidine dehydrogenase deficiency (en)
  • déficit en dihydropyrimidine déshydrogénase (fr)
skos:prefLabel
  • کمبود دی هیدروپیریمیدین دهیدروژناز (fa)
  • DPD欠損症 (ja)
  • Dihydropyrimidin-Dehydrogenase-Mangel (de)
  • dihydropyrimidine dehydrogenase deficiency (en)
  • déficit en dihydropyrimidine déshydrogénase (fr)
name
  • کمبود دی هیدروپیریمیدین دهیدروژناز (fa)
  • DPD欠損症 (ja)
  • Dihydropyrimidin-Dehydrogenase-Mangel (de)
  • dihydropyrimidine dehydrogenase deficiency (en)
  • déficit en dihydropyrimidine déshydrogénase (fr)
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H00193
UniProt disease ID
Orphanet ID
ICD-9-CM
genetic association
ICD-10-CM
PatientsLikeMe condition ID
GARD rare disease ID
OMIM ID
Genetics Home Reference Conditions ID
UniProt disease ID
  • DI-01488
Orphanet ID
  • 1675
ICD-9-CM
  • 277.2
genetic association
ICD-10-CM
  • E79.8
PatientsLikeMe condition ID
  • dihydropyrimidine-dehydrogenase-deficiency
GARD rare disease ID
  • 19
OMIM ID
  • 274270
Genetics Home Reference Conditions ID
  • dihydropyrimidine-dehydrogenase-deficiency
Human Phenotype Ontology ID
Human Phenotype Ontology ID
  • HP:0003654
skos:altLabel
  • Dihydropyrimidine dehydrogenase deficiency (disorder) (en)
  • 5-Fluorouracil Toxicity (en)
  • Dihydropyrimidine dehydrogenase deficiency (en)
  • Dihydrouracil Dehydrogenase deficiency (en)
  • Dpd Deficiency (en)
  • Dpyd Deficiency (en)
  • Familial pyrimidinemia (en)
  • Hereditary thymine-uraciluria (en)
  • Pyrimidinemia, Familial (en)
  • Thymine-Uraciluria, Hereditary (en)
  • familial pyrimidinaemia (en)
  • thymine-uracilurea (en)
NCI Thesaurus ID
UMLS CUI
MeSH descriptor ID
on focus list of Wikimedia project
Microsoft Academic ID
MeSH tree code
MeSH descriptor ID
Microsoft Academic ID
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