Term:adenine phosphoribosyltransferase deficiency
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Accession:DOID:0060350 term browser browse the term
Definition:An amino acid metabolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation. It has an autosomal recessive inheritance pattern. (DO)
Synonyms:exact_synonym: 2,8-Dihydroxyadenine Urolithiasis;   2,8-Dihydroxyadeninuria;   APRT Deficiency;   APRTD;   DHA Crystalline Nephropathy;   Nephrolithiasis, DHA;   Urolithiasis, DHA
 primary_id: MESH:C538228;   RDO:0004179
 alt_id: OMIM:614723
 xref: GARD:10666;   GARD:546
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adenine phosphoribosyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aprt adenine phosphoribosyl transferase JBrowse link 19 55,387,288 55,389,256 RGD:8554872
G Galns galactosamine (N-acetyl)-6-sulfatase JBrowse link 19 55,391,004 55,423,328 RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Urogenital Diseases 3777
        urinary system disease 2009
          Urolithiasis 60
            adenine phosphoribosyltransferase deficiency 2
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        genetic disease 5920
          inherited metabolic disorder 1808
            amino acid metabolic disorder 337
              adenine phosphoribosyltransferase deficiency 2
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