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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.


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purine-pyrimidine metabolic disorder term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atic 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase susceptibility ISO RGD PMID:15114530 RGD:1599355 NCBI chr 9:78,862,013...78,882,061
Ensembl chr 9:78,862,013...78,882,060
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3335642 PMID:15571261 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
G Dpys dihydropyrimidinase ISO dihydropyrimidinuria RGD PMID:9718352 RGD:1599001 NCBI chr 7:78,769,918...78,847,941
Ensembl chr 7:78,769,807...78,847,974
JBrowse link
G Pnp purine nucleoside phosphorylase ISO nucleoside phosphorylase deficiency, OMIM:164050 RGD PMID:3029074 RGD:1600263 NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
JBrowse link
G Umps uridine monophosphate synthetase ISO orotic aciduria RGD PMID:9042911 RGD:1599702 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
JBrowse link
Adenosine Monophosphate Deaminase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd1 adenosine monophosphate deaminase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1631143 PMID:10996775 PMID:11102975 NCBI chr 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021
JBrowse link
adenylosuccinase lyase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adsl adenylosuccinate lyase ISO ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency
ClinVar Annotator: match by OMIM:103050
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:1302001 PMID:6150139 PMID:8598641 PMID:9197470 PMID:9266401 PMID:9545543 PMID:10090474 PMID:10888601 PMID:10958654 PMID:12016589 PMID:12070256 PMID:12368987 PMID:12833398 PMID:15571235 PMID:15571240 PMID:16403972 PMID:16839792 PMID:17188615 PMID:18524658 PMID:18830228 PMID:19405474 PMID:20127976 PMID:20175147 PMID:20177786 PMID:20884265 PMID:20933180 PMID:21210713 PMID:22180458 PMID:22812634 PMID:23504561 PMID:23714113 PMID:24033266 PMID:24781210 PMID:25112391 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27504266 PMID:28487569 PMID:28492532 PMID:28559277 NCBI chr 7:122,157,201...122,192,328
Ensembl chr 7:122,157,201...122,192,328
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umod uromodulin ISO ClinVar Annotator: match by term: Glomerulocystic kidney disease with hyperuricemia and isosthenuria
ClinVar Annotator: match by term: UMOD-Associated Kidney Disease
ClinVar Annotator: match by term: Uromodulin-associated kidney disease
ClinVar Annotator: match by term: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1
ClinVar Annotator: match by OMIM:162000
ClinVar
OMIM
PMID:12205338 PMID:12471200 PMID:12629136 PMID:12634862 PMID:14531790 PMID:14569098 PMID:14570709 PMID:15589826 PMID:16135773 PMID:16883323 PMID:20172860 PMID:22117067 PMID:22693617 PMID:24670410 PMID:25741868 PMID:26467025 PMID:27729211 PMID:27795632 PMID:28492532 PMID:30376835, PMID:12471200 RGD:737832 NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
JBrowse link
Beta-Ureidopropionase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Upb1 beta-ureidopropionase 1 ISO ClinVar Annotator: match by term: Beta-ureidopropionase deficiency
ClinVar Annotator: match by OMIM:613161
OMIM
ClinVar
PMID:15385443 PMID:17964839 PMID:22525402 PMID:23238479 PMID:24033266 PMID:24123366 PMID:24526388 PMID:25445412 PMID:25638458 PMID:25741868 PMID:28492532 NCBI chr20:14,167,383...14,193,724
Ensembl chr20:14,167,586...14,193,690
JBrowse link
dihydropyrimidine dehydrogenase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpyd dihydropyrimidine dehydrogenase ISO ClinVar Annotator: match by term: Dihydropyrimidine dehydrogenase deficiency
ClinVar Annotator: match by term: Pyrimidinemia familial
ClinVar Annotator: match by term: Hereditary Thymine-Uraciluria
ClinVar Annotator: match by OMIM:274270
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7832988 PMID:8051923 PMID:8698850 PMID:8892022 PMID:9254861 PMID:9266349 PMID:9323575 PMID:9439663 PMID:9470816 PMID:9686374 PMID:9721209 PMID:9816193 PMID:10071185 PMID:10657402 PMID:10671643 PMID:10803677 PMID:11156223 PMID:11179210 PMID:11350878 PMID:11555601 PMID:11875367 PMID:11895907 PMID:11953843 PMID:11988088 PMID:12164772 PMID:12209976 PMID:12360106 PMID:12562666 PMID:12851836 PMID:12885330 PMID:12912951 PMID:14635116 PMID:15017333 PMID:15132136 PMID:15571261 PMID:15591715 PMID:15858133 PMID:15890268 PMID:15899693 PMID:16033824 PMID:16115930 PMID:16151913 PMID:16361556 PMID:16719540 PMID:17000684 PMID:17000685 PMID:17046731 PMID:17064846 PMID:17121937 PMID:17165084 PMID:17203168 PMID:17335544 PMID:17417073 PMID:17563256 PMID:17700593 PMID:17828463 PMID:17876700 PMID:17905396 PMID:18006695 PMID:18299612 PMID:18443386 PMID:18452418 PMID:18600527 PMID:18600544 PMID:18619742 PMID:18937829 PMID:19104657 PMID:19287123 PMID:19288105 PMID:19296131 PMID:19473056 PMID:19530960 PMID:19795123 PMID:19822137 PMID:19858398 PMID:20385995 PMID:20507294 PMID:20530282 PMID:20647221 PMID:20803296 PMID:20809970 PMID:20819423 PMID:20920994 PMID:20981092 PMID:21077799 PMID:21114665 PMID:21228398 PMID:21410976 PMID:21412232 PMID:21420945 PMID:21498394 PMID:21590448 PMID:21723269 PMID:21833589 PMID:21878539 PMID:21919607 PMID:22339448 PMID:22353294 PMID:22992668 PMID:22995991 PMID:23042115 PMID:23139054 PMID:23199091 PMID:23238479 PMID:23328581 PMID:23335937 PMID:23481061 PMID:23517808 PMID:23585145 PMID:23588312 PMID:23596069 PMID:23603345 PMID:23736036 PMID:23781135 PMID:23930673 PMID:23960437 PMID:23988873 PMID:24037119 PMID:24107927 PMID:24167597 PMID:24310106 PMID:24326041 PMID:24388031 PMID:24434920 PMID:24590654 PMID:24647007 PMID:24648345 PMID:24700034 PMID:24817302 PMID:24923815 PMID:24943064 PMID:25087612 PMID:25110414 PMID:25117664 PMID:25381393 PMID:25410891 PMID:25420024 PMID:25565930 PMID:25590979 PMID:25677447 PMID:25741868 PMID:25796495 PMID:25826134 PMID:26099996 PMID:26216193 PMID:26254383 PMID:26265035 PMID:26265346 PMID:26330892 PMID:26467025 PMID:26505400 PMID:26603945 PMID:26621101 PMID:26623034 PMID:26651493 PMID:26658227 PMID:26716401 PMID:26792652 PMID:26794347 PMID:26804235 PMID:26804652 PMID:26846104 PMID:26894782 PMID:26967565 PMID:27248859 PMID:27281625 PMID:27454530 PMID:27544765 PMID:27701067 PMID:27727460 PMID:27738344 PMID:27864592 PMID:27884173 PMID:27995989 PMID:28024938 PMID:28027897 PMID:28112993 PMID:28128059 PMID:28237406 PMID:28262261 PMID:28295243 PMID:28395758 PMID:28427087 PMID:28481884 PMID:28492532 PMID:28572524 PMID:28745575 PMID:28929491 PMID:29045550 PMID:29065426 PMID:29134491 PMID:29152729 PMID:29236957 PMID:29769267 PMID:29778030 PMID:30114658 PMID:30348537 PMID:30510603 PMID:32619063 NCBI chr 2:221,823,692...222,694,627
Ensembl chr 2:221,823,687...222,694,627
JBrowse link
gout term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A1cf APOBEC1 complementation factor ISO DNA:SNP: :rs10821905 (human) RGD PMID:28679452, PMID:28252667 RGD:13831119, RGD:13831120 NCBI chr 1:250,426,027...250,514,245
Ensembl chr 1:250,426,158...250,514,866
JBrowse link
G Abcg2 ATP binding cassette subfamily G member 2 susceptibility ISO DNA:SNP:exon:rs2231142(human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GOUT SUSCEPTIBILITY 1
ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 1
CTD
ClinVar
OMIM
PMID:16702730 PMID:16784736 PMID:18834626 PMID:19474787 PMID:19506252 PMID:20130569 PMID:20207952 PMID:20368174 PMID:20679960 PMID:21821808 PMID:22112610 PMID:22246505 PMID:22246507 PMID:22992668 PMID:23876492 PMID:23930675 PMID:25630984 PMID:25676789 PMID:26810134 PMID:28322941 PMID:29341237 PMID:29751792 PMID:31578528, PMID:19506252 RGD:13439747 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:21285172 RGD:5684422 NCBI chr16:69,003,541...69,006,632
Ensembl chr16:69,003,868...69,006,632
JBrowse link
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983786 NCBI chr 1:101,138,237...101,151,320
Ensembl chr 1:101,138,248...101,151,320
JBrowse link
G Alpk1 alpha-kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542954 NCBI chr 2:231,997,360...232,117,471
Ensembl chr 2:231,996,088...232,117,134
JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Gout ClinVar PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:25741868 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Hp haptoglobin ISO RGD PMID:7281841 RGD:1626362 NCBI chr19:42,096,255...42,100,805
Ensembl chr19:42,097,995...42,100,804
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:18403674 NCBI chr 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il33 interleukin 33 ISO RGD PMID:30863362 RGD:40400717 NCBI chr 1:248,112,611...248,147,030
Ensembl chr 1:248,132,090...248,147,029
JBrowse link
G Nlrp1b NLR family, pyrin domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr10:57,755,957...57,847,867 JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO N113S, D182H RGD PMID:8253776 RGD:1599725 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
JBrowse link
G Slc17a3 solute carrier family 17 member 3 ISO ClinVar Annotator: match by term: Uric acid concentration, serum, quantitative trait locus 4 ClinVar
OMIM
PMID:20810651 NCBI chr17:43,518,760...43,545,160
Ensembl chr17:43,518,655...43,543,185
JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18327256 PMID:18327257 NCBI chr14:77,067,537...77,192,702
Ensembl chr14:77,067,503...77,192,702
JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29071757 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
Gouty Arthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dars2 aspartyl-tRNA synthetase 2 (mitochondrial) ISO ClinVar Annotator: match by term: Gouty arthritis ClinVar PMID:17384640 PMID:19592391 PMID:22843165 PMID:23065766 PMID:23652419 PMID:24005482 PMID:24407472 PMID:25741868 NCBI chr13:78,857,638...78,885,464
Ensembl chr13:78,857,638...78,885,464
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 6:28,382,937...28,388,771
Ensembl chr 6:28,382,962...28,388,967
JBrowse link
HRPT-related hyperuricemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr 1:101,138,237...101,151,320
Ensembl chr 1:101,138,248...101,151,320
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency
ClinVar Annotator: match by term: HPRT-related hyperuricemia
ClinVar Annotator: match by term: KELLEY-SEEGMILLER SYNDROME
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300323
OMIM
ClinVar
CTD
PMID:1301916 PMID:1551676 PMID:1934271 PMID:1937471 PMID:2071157 PMID:2246854 PMID:2323782 PMID:2347587 PMID:2397545 PMID:2738157 PMID:2896620 PMID:2928313 PMID:3358423 PMID:3384338 PMID:6204922 PMID:6309910 PMID:6706936 PMID:7987318 PMID:9288634 PMID:9799086 PMID:10737990 PMID:11018746 PMID:11891689 PMID:15386453 PMID:15505382 PMID:15571220 PMID:16549399 PMID:17027311 PMID:17454734 PMID:19016344 PMID:20981450 PMID:22132984 PMID:22157001 PMID:22999896 PMID:23348497 PMID:23975452 PMID:25136576 PMID:25481104 PMID:25741868 PMID:28045594 PMID:28492532 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
Lesch-Nyhan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: Lesch-Nyhan syndrome
ClinVar Annotator: match by term: HPRT PARIS
DNA:deletion,insertion,duplication:cds:
DNA:mutations:multiple:
ClinVar Annotator: match by term: HPRT EVANSVILLE
ClinVar Annotator: match by term: HPRT NEW BRITON
ClinVar Annotator: match by term: HPRT FLINT
ClinVar Annotator: match by term: HPRT CONNERSVILLE
ClinVar Annotator: match by term: HPRT MIDLAND
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:300322
OMIM
ClinVar
PMID:1434518 PMID:1618489 PMID:1639405 PMID:1840549 PMID:1934271 PMID:1937471 PMID:2071157 PMID:2323782 PMID:2347587 PMID:2738157 PMID:2760209 PMID:2910902 PMID:2928313 PMID:3198771 PMID:3384338 PMID:3909940 PMID:3944251 PMID:6087154 PMID:6853716 PMID:8664901 PMID:9288634 PMID:10767182 PMID:11668636 PMID:17027311 PMID:23975452 PMID:25481104 PMID:25741868 PMID:28492532 PMID:28708303, PMID:24940672, PMID:20638392 RGD:13463104, RGD:13462064 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
G Xdh xanthine dehydrogenase treatment ISO RGD PMID:17697859 RGD:7247657 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
Lesch-Nyhan Syndrome, Neurologic Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Lesch-nyhan syndrome, neurologic variant
DNA,mRNA:missense mutations,decreased expression:cds:
ClinVar PMID:1301916 PMID:2358296 PMID:10737990 PMID:17454734 PMID:20981450 PMID:22157001 PMID:22999896 PMID:25481104 PMID:28492532, PMID:24940672 RGD:13463104 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
Methylmalonate Semialdehyde Dehydrogenase Deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aldh6a1 aldehyde dehydrogenase 6 family, member A1 ISO ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency ClinVar
OMIM
PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 PMID:23835272 PMID:25741868 PMID:28492532 PMID:32151545 NCBI chr 6:108,146,552...108,167,185
Ensembl chr 6:108,146,582...108,167,185
JBrowse link
G Bbof1 basal body orientation factor 1 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Methylmalonate semialdehyde dehydrogenase deficiency
ClinVar PMID:3117077 PMID:3939535 PMID:10947204 PMID:11446412 PMID:21863277 PMID:23835272 PMID:25741868 PMID:28492532 PMID:32151545 NCBI chr 6:108,123,855...108,149,613
Ensembl chr 6:108,123,816...108,149,607
JBrowse link
MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ampd1 adenosine monophosphate deaminase 1 ISO ClinVar Annotator: match by term: Muscle AMP deaminase deficiency ClinVar
OMIM
PMID:1631143 PMID:8335021 PMID:10996775 PMID:11102975 PMID:12117480 PMID:15173240 PMID:21343608 PMID:25155876 PMID:25741868 PMID:27296017 PMID:28492532 NCBI chr 2:205,568,934...205,589,961
Ensembl chr 2:205,568,935...205,590,021
JBrowse link
orotic aciduria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1
ClinVar Annotator: match by term: Orotic aciduria
ClinVar Annotator: match by term: UMP SYNTHASE DEFICIENCY
ClinVar Annotator: match by OMIM:258900
OMIM
ClinVar
PMID:9042911 PMID:16818689 PMID:20647221 PMID:22992668 PMID:24167597 PMID:25741868 PMID:28205048 PMID:28492532 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
JBrowse link
Orotic Aciduria II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umps uridine monophosphate synthetase ISO ClinVar Annotator: match by term: OMP DECARBOXYLASE DEFICIENCY ClinVar PMID:16818689 PMID:20647221 PMID:22992668 PMID:24167597 PMID:25741868 NCBI chr11:70,034,181...70,044,590
Ensembl chr11:70,034,139...70,044,628
JBrowse link
phosphoribosylpyrophosphate synthetase superactivity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO ClinVar Annotator: match by term: Phosphoribosylpyrophosphate synthetase superactivity
ClinVar Annotator: match by OMIM:300661
OMIM
ClinVar
PMID:171280 PMID:1664177 PMID:6243137 PMID:7593598 PMID:8253776 PMID:19161981 PMID:24033266 PMID:25741868 PMID:26089585 PMID:28492532 PMID:28967191 NCBI chr  X:111,798,233...111,820,270
Ensembl chr  X:111,798,233...111,820,266
JBrowse link
Poor Metabolism of Thiopurines, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpmt thiopurine S-methyltransferase ISO OMIM NCBI chr17:18,029,090...18,047,716
Ensembl chr17:18,029,124...18,047,714
JBrowse link
Poor Metabolism of Thiopurines, 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nudt15 nudix hydrolase 15 ISO ClinVar Annotator: match by term: THIOPURINES, POOR METABOLISM OF, 2
ClinVar Annotator: match by term: Thiopurines, poor metabolism of, 2
ClinVar
OMIM
PMID:22992668 PMID:25108385 PMID:25624441 PMID:26033531 PMID:26076924 PMID:26405151 PMID:26503813 PMID:26590936 PMID:26735160 PMID:26878724 PMID:27095468 PMID:27193222 PMID:27381176 PMID:27416873 PMID:27530327 PMID:27558924 PMID:27577869 PMID:27604507 PMID:28088792 PMID:28146264 NCBI chr15:55,417,774...55,456,698
Ensembl chr15:55,419,502...55,456,698
JBrowse link
purine nucleoside phosphorylase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pnp purine nucleoside phosphorylase ISO ClinVar Annotator: match by term: Purine-nucleoside phosphorylase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:613179
OMIM
ClinVar
CTD
PMID:1384322 PMID:1560016 PMID:3029074 PMID:8931706 PMID:9067751 PMID:9403342 PMID:9737781 PMID:11453975 PMID:12483996 PMID:15571269 PMID:17407325 PMID:19759001 PMID:22132981 PMID:24033266 PMID:24767876 PMID:25741868 PMID:28492532 NCBI chr15:27,875,883...27,883,566
Ensembl chr15:27,875,911...27,883,350
JBrowse link
thiopurine S-methyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tpmt thiopurine S-methyltransferase ISO ClinVar Annotator: match by OMIM:610460
ClinVar Annotator: match by term: Thiopurine methyltransferase deficiency
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:1960624 PMID:7862671 PMID:8561894 PMID:8644731 PMID:9177237 PMID:9246020 PMID:9931345 PMID:9931346 PMID:10208641 PMID:10751626 PMID:15819814 PMID:16476125 PMID:17885628 NCBI chr17:18,029,090...18,047,716
Ensembl chr17:18,029,124...18,047,714
JBrowse link
xanthinuria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mocos molybdenum cofactor sulfurase ISS OMIM:278300 | OMIM:603592 MouseDO NCBI chr18:16,590,086...16,636,312
Ensembl chr18:16,590,197...16,636,084
JBrowse link
G Xdh xanthine dehydrogenase ISO
ISS
ClinVar Annotator: match by term: Xanthinuria
ClinVar Annotator: match by term: Deficiency of xanthine oxidase
ClinVar Annotator: match by term: Xanthine oxidase deficiency
OMIM:278300 | OMIM:603592
ClinVar
MouseDO
PMID:9153281 PMID:11379872 PMID:17368066 PMID:18300946 PMID:18712049 PMID:20814157 PMID:21963464 PMID:22421815 PMID:22981351 PMID:23203137 PMID:24033266 PMID:25741868 PMID:25823988 PMID:26110747 PMID:26120850 PMID:26283345 PMID:26443251 PMID:26863601 PMID:28492532 PMID:28508967 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
Xanthinuria, Type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xdh xanthine dehydrogenase ISO DNA:point mutation, deletion:exon:p.R228X, 2567delC (human) OMIM PMID:9153281 RGD:1624377 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
Xanthinuria, Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mocos molybdenum cofactor sulfurase ISO ClinVar Annotator: match by term: Xanthinuria type 2
ClinVar Annotator: match by term: Xanthinuria type II
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:11302742 PMID:14624414 PMID:17368066 PMID:25967871 PMID:28492532 PMID:29935280 NCBI chr18:16,590,086...16,636,312
Ensembl chr18:16,590,197...16,636,084
JBrowse link
G Xdh xanthine dehydrogenase ISO ClinVar Annotator: match by term: Xanthinuria type 2
ClinVar Annotator: match by term: Xanthinuria type II
ClinVar PMID:9153281 PMID:17368066 PMID:18300946 PMID:23203137 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Nutritional and Metabolic Diseases 4714
      disease of metabolism 4714
        inherited metabolic disorder 2235
          purine-pyrimidine metabolic disorder 35
            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 + 22
            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 16122
    Developmental Diseases 9597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8441
        genetic disease 7944
          inherited metabolic disorder 2235
            purine-pyrimidine metabolic disorder 35
              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 + 22
              orotic aciduria 1
              phosphoribosylpyrophosphate synthetase superactivity 1
              purine nucleoside phosphorylase deficiency 1
              thiopurine S-methyltransferase deficiency + 2
              xanthinuria + 2
paths to the root