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ONTOLOGY REPORT - ANNOTATIONS


Term:purine-pyrimidine metabolic disorder
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Accession:DOID:653 term browser browse the term
Definition:Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero.
Synonyms:exact_synonym: Purine-Pyrimidine Metabolism, Inborn Errors;   inborn errors of purine-pyrimidine metabolism
 primary_id: MESH:D011686
 alt_id: RDO:0002912
 xref: ICD10CM:E79.8;   ICD9CM:277.2
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purine-pyrimidine metabolic disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase JBrowse link 9 78,862,013 78,882,061 RGD:1599355
G Dpyd dihydropyrimidine dehydrogenase JBrowse link 2 221,823,692 222,694,627 RGD:11554173
G Dpys dihydropyrimidinase JBrowse link 7 78,769,918 78,847,941 RGD:1599001
G Pnp purine nucleoside phosphorylase JBrowse link 15 27,875,883 27,883,566 RGD:1600263
G Umps uridine monophosphate synthetase JBrowse link 11 70,034,181 70,044,590 RGD:1599702
Adenosine Monophosphate Deaminase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ampd1 adenosine monophosphate deaminase 1 JBrowse link 2 205,568,934 205,589,961 RGD:11554173
adenylosuccinase lyase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adsl adenylosuccinate lyase JBrowse link 7 122,157,201 122,192,328 RGD:7240710
RGD:8554872
RGD:11554173
Beta-Ureidopropionase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Upb1 beta-ureidopropionase 1 JBrowse link 20 14,167,383 14,193,724 RGD:7240710
RGD:8554872
dihydropyrimidine dehydrogenase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpyd dihydropyrimidine dehydrogenase JBrowse link 2 221,823,692 222,694,627 RGD:7240710
RGD:8554872
RGD:11554173
Familial Juvenile Hyperuricemic Nephropathy 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Umod uromodulin JBrowse link 1 189,186,027 189,199,939 RGD:737832
RGD:8554872
RGD:7240710
gout term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A1cf APOBEC1 complementation factor JBrowse link 1 250,426,027 250,514,245 RGD:13831119
RGD:13831120
G Abcg2 ATP binding cassette subfamily G member 2 JBrowse link 4 88,765,441 88,890,268 RGD:13439747
RGD:11554173
RGD:8554872
RGD:7240710
G Adrb3 adrenoceptor beta 3 JBrowse link 16 69,003,541 69,006,632 RGD:5684422
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 JBrowse link 1 101,138,237 101,151,320 RGD:11554173
G Alpk1 alpha-kinase 1 JBrowse link 2 231,997,360 232,117,471 RGD:11554173
G Cd14 CD14 molecule JBrowse link 18 29,560,341 29,562,290 RGD:11554173
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Hp haptoglobin JBrowse link 19 42,096,255 42,100,805 RGD:1626362
G Il1b interleukin 1 beta JBrowse link 3 121,876,256 121,882,637 RGD:11554173
G Il1rn interleukin 1 receptor antagonist JBrowse link 3 1,449,778 1,468,624 RGD:11554173
G Nlrp1b NLR family, pyrin domain containing 1B JBrowse link 10 57,755,957 57,847,867 RGD:11554173
G Slc17a3 solute carrier family 17 member 3 JBrowse link 17 43,518,760 43,545,160 RGD:8554872
RGD:7240710
G Slc2a9 solute carrier family 2 member 9 JBrowse link 14 77,067,537 77,192,702 RGD:11554173
G Xdh xanthine dehydrogenase JBrowse link 6 25,149,570 25,211,273 RGD:11554173
Gout, HPRT-Related term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 JBrowse link 1 101,138,237 101,151,320 RGD:11554173
G Hprt1 hypoxanthine phosphoribosyltransferase 1 JBrowse link X 158,196,640 158,228,815 RGD:7240710
RGD:8554872
RGD:11554173
Gouty Arthritis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) JBrowse link 13 78,857,638 78,885,464 RGD:8554872
G Mmp2 matrix metallopeptidase 2 JBrowse link 19 15,542,771 15,570,589 RGD:8547877
G Mmp3 matrix metallopeptidase 3 JBrowse link 8 5,676,608 5,698,579 RGD:7241254
G Mmp9 matrix metallopeptidase 9 JBrowse link 3 161,413,410 161,421,473 RGD:8547877
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
Lesch-Nyhan syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hprt1 hypoxanthine phosphoribosyltransferase 1 JBrowse link X 158,196,640 158,228,815 RGD:7240710
RGD:8554872
RGD:13463104
RGD:13462064
G Xdh xanthine dehydrogenase JBrowse link 6 25,149,570 25,211,273 RGD:7247657
Lesch-Nyhan Syndrome, Neurologic Variant term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hprt1 hypoxanthine phosphoribosyltransferase 1 JBrowse link X 158,196,640 158,228,815 RGD:8554872
RGD:13463104
Methylmalonate Semialdehyde Dehydrogenase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 JBrowse link 6 108,146,552 108,167,185 RGD:8554872
RGD:7240710
G Bbof1 basal body orientation factor 1 JBrowse link 6 108,123,855 108,149,613 RGD:8554872
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ampd1 adenosine monophosphate deaminase 1 JBrowse link 2 205,568,934 205,589,961 RGD:8554872
RGD:7240710
orotic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Umps uridine monophosphate synthetase JBrowse link 11 70,034,181 70,044,590 RGD:7240710
RGD:8554872
Orotic Aciduria II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Umps uridine monophosphate synthetase JBrowse link 11 70,034,181 70,044,590 RGD:8554872
phosphoribosylpyrophosphate synthetase superactivity term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Prps1 phosphoribosyl pyrophosphate synthetase 1 JBrowse link X 111,798,233 111,820,270 RGD:7240710
RGD:8554872
Poor Metabolism of Thiopurines, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpmt thiopurine S-methyltransferase JBrowse link 17 18,029,090 18,047,716 RGD:7240710
RGD:8554872
Poor Metabolism of Thiopurines, 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nudt15 nudix hydrolase 15 JBrowse link 15 55,417,774 55,456,698 RGD:8554872
RGD:7240710
purine nucleoside phosphorylase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pnp purine nucleoside phosphorylase JBrowse link 15 27,875,883 27,883,566 RGD:7240710
RGD:8554872
thiopurine S-methyltransferase deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tpmt thiopurine S-methyltransferase JBrowse link 17 18,029,090 18,047,716 RGD:8554872
RGD:11554173
xanthinuria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mocos molybdenum cofactor sulfurase JBrowse link 18 16,590,086 16,636,312 RGD:13592920
G Xdh xanthine dehydrogenase JBrowse link 6 25,149,570 25,211,273 RGD:8554872
RGD:13592920
Xanthinuria, Type I term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Xdh xanthine dehydrogenase JBrowse link 6 25,149,570 25,211,273 RGD:1624377
RGD:7240710
Xanthinuria, Type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mocos molybdenum cofactor sulfurase JBrowse link 18 16,590,086 16,636,312 RGD:8554872
RGD:7240710
RGD:11554173
G Xdh xanthine dehydrogenase JBrowse link 6 25,149,570 25,211,273 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15609
    Nutritional and Metabolic Diseases 4391
      disease of metabolism 4391
        inherited metabolic disorder 1909
          purine-pyrimidine metabolic disorder 34
            Adenosine Monophosphate Deaminase Deficiency + 1
            Beta-Ureidopropionase Deficiency 1
            Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 0
            Lesch-Nyhan syndrome + 2
            Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
            Orotic Aciduria II 1
            Phosphoribosylpyrophosphate Synthetase Deficiency 0
            Pseudouridinuria and Mental Defect 0
            adenylosuccinase lyase deficiency 1
            dihydropyrimidine dehydrogenase deficiency + 1
            gout + 20
            orotic aciduria 1
            phosphoribosylpyrophosphate synthetase superactivity 1
            purine nucleoside phosphorylase deficiency 1
            thiopurine S-methyltransferase deficiency + 2
            xanthinuria + 2
Path 2
Term Annotations click to browse term
  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          inherited metabolic disorder 1909
            purine-pyrimidine metabolic disorder 34
              Adenosine Monophosphate Deaminase Deficiency + 1
              Beta-Ureidopropionase Deficiency 1
              Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 0
              Lesch-Nyhan syndrome + 2
              Methylmalonate Semialdehyde Dehydrogenase Deficiency 2
              Orotic Aciduria II 1
              Phosphoribosylpyrophosphate Synthetase Deficiency 0
              Pseudouridinuria and Mental Defect 0
              adenylosuccinase lyase deficiency 1
              dihydropyrimidine dehydrogenase deficiency + 1
              gout + 20
              orotic aciduria 1
              phosphoribosylpyrophosphate synthetase superactivity 1
              purine nucleoside phosphorylase deficiency 1
              thiopurine S-methyltransferase deficiency + 2
              xanthinuria + 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.