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DO Term : dihydropyrimidine dehydrogenase deficiency [DOID:14218] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A 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.
  • synonyms:
  • UMLS_CUI:C1959620,
  • MESH:D054067,
  • OMIM:274270,
  • NCI:C84672,
  • 274270,
  • familial pyrimidinaemia,
  • SNOMEDCT_US_2023_03_01:238016000,
  • GARD:19,
  • thymine-uracilurea,
  • Dihydrouracil Dehydrogenase deficiency,
  • UMLS_CUI:C3495551
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents