Search Ontology:
Human Disease

adenine phosphoribosyltransferase deficiency

Term ID
DOID:0060350
Synonyms
  • 2,8-dihydroxyadenine urolithiasis
  • APRT deficiency
Definition
A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. (5)
References
  • GARD:10666
  • GARD:546
  • MESH:C538228
  • MIM:614723
  • NCI:C121564
  • SNOMEDCT_US_2023_03_01:11852004
  • UMLS_CUI:C0268120
  • UMLS_CUI:C3665382
Ontology
Human Disease   ( DOID:0060350 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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