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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 9:73,164,846...73,184,897
Ensembl chr 9:73,164,846...73,184,889
JBrowse link
G Dpyd dihydropyrimidine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:3335642 PMID:15571261 NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
JBrowse link
G Dpys dihydropyrimidinase ISO dihydropyrimidinuria RGD PMID:9718352 RGD:1599001 NCBI chr 7:70,822,648...70,929,255
Ensembl chr 7:70,835,789...70,929,231
JBrowse link
G Pnp purine nucleoside phosphorylase ISO nucleoside phosphorylase deficiency, OMIM:164050 RGD PMID:3029074 RGD:1600263 NCBI chr15:24,170,456...24,178,274
Ensembl chr15:24,170,602...24,203,986
JBrowse link
G Umps uridine monophosphate synthetase ISO orotic aciduria RGD PMID:9042911 RGD:1599702 NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
JBrowse link
adenine phosphoribosyltransferase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by OMIM:614723
ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency
ClinVar
OMIM
PMID:1353080 PMID:1673292 PMID:1985452 PMID:2135300 PMID:2227951 More... NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431
JBrowse link
G Galns galactosamine (N-acetyl)-6-sulfatase ISO ClinVar Annotator: match by term: Adenine phosphoribosyltransferase deficiency ClinVar PMID:25741868 PMID:28492532 NCBI chr19:50,628,639...50,662,477
Ensembl chr19:50,628,552...50,662,246
JBrowse link
adenosine deaminase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ada adenosine deaminase ISO ClinVar Annotator: match by term: Severe combined immunodeficiency due to ADA deficiency
ClinVar Annotator: match by term: SCID DUE TO ADA DEFICIENCY, EARLY-ONSET
ClinVar Annotator: match by synonym: SCID due to ADA deficiency, delayed onset
ClinVar Annotator: match by OMIM:102700
OMIM
ClinVar
PMID:46025 PMID:498598 PMID:980079 PMID:1284479 PMID:1346349 More... NCBI chr 3:152,398,745...152,422,854
Ensembl chr 3:152,398,747...152,447,088
JBrowse link
G Myh7 myosin heavy chain 7 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:7581410 PMID:10521296 PMID:11186938 PMID:11447480 PMID:15358028 More... NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
JBrowse link
G Rag1 recombination activating 1 ISO ClinVar Annotator: match by term: Bubble boy disease ClinVar PMID:11133745 PMID:21664875 PMID:24290284 PMID:24406074 PMID:25741868 More... NCBI chr 3:87,917,061...87,928,158
Ensembl chr 3:87,917,004...87,928,291
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 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
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 More... NCBI chr 7:112,479,256...112,503,439
Ensembl chr 7:112,479,271...112,503,760
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: Uromodulin-associated kidney disease
ClinVar Annotator: match by term: MEDULLARY CYSTIC KIDNEY DISEASE 2, AUTOSOMAL DOMINANT
ClinVar Annotator: match by term: UMOD-Associated Kidney Disease
ClinVar Annotator: match by term: Familial juvenile gout
ClinVar Annotator: match by term: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1
ClinVar Annotator: match by OMIM:162000
ClinVar
OMIM
RGD
PMID:7396593 PMID:10330352 PMID:12205338 PMID:12471200 PMID:12519891 More... RGD:737832 NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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:11783491 PMID:15385443 PMID:16199547 PMID:17964839 PMID:22525402 More... NCBI chr20:13,217,252...13,243,590
Ensembl chr20:13,217,258...13,243,590
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 More... NCBI chr 2:206,609,043...207,474,982
Ensembl chr 2:206,609,122...207,474,982
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 1:229,736,037...229,823,499
Ensembl chr 1:229,736,106...229,824,354
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
RGD
PMID:16702730 PMID:16784736 PMID:18834626 PMID:19474787 PMID:19506252 More... RGD:13439747 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
G Adrb3 adrenoceptor beta 3 ISO DNA:missense mutation:cds:p.W64R rs4994 (human) RGD PMID:21285172 RGD:5684422 NCBI chr16:64,839,820...64,844,552
Ensembl chr16:64,841,788...64,844,552
JBrowse link
G Aldh16a1 aldehyde dehydrogenase 16 family, member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21983786 NCBI chr 1:95,626,727...95,639,808
Ensembl chr 1:95,613,558...95,640,131
JBrowse link
G Alpk1 alpha-kinase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27542954 NCBI chr 2:216,126,939...216,247,180
Ensembl chr 2:216,128,825...216,247,157
JBrowse link
G Cd14 CD14 molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261
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 More... NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
JBrowse link
G Hp haptoglobin ISO RGD PMID:7281841 RGD:1626362 NCBI chr19:37,539,626...37,544,178
Ensembl chr19:37,539,627...37,544,523
JBrowse link
G Il1b interleukin 1 beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415
JBrowse link
G Il1rn interleukin 1 receptor antagonist ISO CTD Direct Evidence: therapeutic CTD PMID:18403674 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445
JBrowse link
G Il33 interleukin 33 ISO RGD PMID:30863362 RGD:40400717 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373
JBrowse link
G Nlrp1b NLR family, pyrin domain containing 1B ISO CTD Direct Evidence: marker/mechanism CTD PMID:26462562 NCBI chr10:55,838,381...55,904,374 JBrowse link
G Prps1 phosphoribosyl pyrophosphate synthetase 1 ISO N113S, D182H RGD PMID:8253776 RGD:1599725 NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
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 chr17:41,270,804...41,300,132
Ensembl chr17:41,270,812...41,295,256
JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18327256 PMID:18327257 NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981
JBrowse link
G Xdh xanthine dehydrogenase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29071757 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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 More... NCBI chr13:73,308,726...73,336,558
Ensembl chr13:73,308,726...73,336,934
JBrowse link
G Mmp2 matrix metallopeptidase 2 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870
JBrowse link
G Mmp3 matrix metallopeptidase 3 ISO RGD PMID:11796404 RGD:7241254 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961
JBrowse link
G Mmp9 matrix metallopeptidase 9 severity ISO RGD PMID:14687896 RGD:8547877 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: therapeutic CTD PMID:8035395 NCBI chr 6:26,939,844...26,945,666
Ensembl chr 6:26,939,837...26,945,664
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 1:95,626,727...95,639,808
Ensembl chr 1:95,613,558...95,640,131
JBrowse link
G Ccdc160 coiled-coil domain containing 160 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,468,141...132,478,616
Ensembl chr  X:132,468,213...132,478,431
JBrowse link
G Gpc3 glypican 3 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:131,868,983...132,236,837
Ensembl chr  X:131,868,990...132,236,798
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 More... NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Mir106a microRNA 106a ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,422,584...132,422,661
Ensembl chr  X:132,422,584...132,422,661
JBrowse link
G Mir19b2 microRNA 19b-2 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,422,072...132,422,167
Ensembl chr  X:132,422,072...132,422,167
JBrowse link
G Phf6 PHD finger protein 6 ISO ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency ClinVar PMID:6087154 PMID:11018746 PMID:15571220 PMID:17027311 PMID:22157001 More... NCBI chr  X:132,656,658...132,699,720
Ensembl chr  X:132,656,672...132,699,127
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: Hypoxanthine guanine phosphoribosyltransferase deficiency
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
RGD
PMID:1434518 PMID:1618489 PMID:1639405 PMID:1840549 PMID:1934271 More... RGD:13463104, RGD:13462064 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Xdh xanthine dehydrogenase treatment ISO RGD PMID:17697859 RGD:7247657 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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
RGD
PMID:1301916 PMID:2358296 PMID:10737990 PMID:17454734 PMID:20981450 More... RGD:13463104 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
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 More... NCBI chr 6:104,077,975...104,098,636
Ensembl chr 6:104,077,979...104,098,656
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 More... NCBI chr 6:104,055,246...104,081,036
Ensembl chr 6:104,055,241...104,082,071
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:1922051 PMID:8335021 PMID:10996775 PMID:11102975 More... NCBI chr 2:190,598,707...190,619,938
Ensembl chr 2:190,598,700...190,619,938
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: UMP SYNTHASE DEFICIENCY
ClinVar Annotator: match by term: Hereditary orotic aciduria, type 1
ClinVar Annotator: match by term: Orotic aciduria
ClinVar Annotator: match by OMIM:258900
OMIM
ClinVar
PMID:9042911 PMID:16818689 PMID:20647221 PMID:22992668 PMID:24167597 More... NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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: Orotidylic decarboxylase deficiency ClinVar PMID:16818689 PMID:20647221 PMID:22992668 PMID:24167597 PMID:25741868 More... NCBI chr11:66,806,107...66,816,520
Ensembl chr11:66,806,045...66,821,903
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 More... NCBI chr  X:104,132,139...104,154,191
Ensembl chr  X:104,132,141...104,154,187
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 chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
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 More... NCBI chr15:48,707,776...48,747,363
Ensembl chr15:48,709,700...48,747,363
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 More... NCBI chr15:24,170,456...24,178,274
Ensembl chr15:24,170,602...24,203,986
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 More... NCBI chr17:17,644,088...17,662,709
Ensembl chr17:17,644,173...17,662,709
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 chr18:15,931,654...15,977,415
Ensembl chr18:15,931,654...15,977,187
JBrowse link
G Xdh xanthine dehydrogenase ISO
ISS
ClinVar Annotator: match by term: Xanthinuria
ClinVar Annotator: match by term: XDH deficiency
ClinVar Annotator: match by term: Xanthine oxidase deficiency
ClinVar Annotator: match by term: Deficiency of xanthine oxidase
OMIM:278300 | OMIM:603592
ClinVar
MouseDO
PMID:9153281 PMID:11379872 PMID:17368066 PMID:18300946 PMID:18712049 More... NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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
RGD
PMID:9153281 RGD:1624377 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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:9536098 PMID:11302742 PMID:14624414 PMID:17368066 PMID:17576681 More... NCBI chr18:15,931,654...15,977,415
Ensembl chr18:15,931,654...15,977,187
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:9536098 PMID:17368066 PMID:17576681 PMID:18300946 More... NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          purine-pyrimidine metabolic disorder 45
            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
            adenine phosphoribosyltransferase deficiency 2
            adenosine deaminase deficiency 3
            adenylosuccinase lyase deficiency 1
            dihydropyrimidine dehydrogenase deficiency + 1
            gout + 27
            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 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            purine-pyrimidine metabolic disorder 45
              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
              adenine phosphoribosyltransferase deficiency 2
              adenosine deaminase deficiency 3
              adenylosuccinase lyase deficiency 1
              dihydropyrimidine dehydrogenase deficiency + 1
              gout + 27
              orotic aciduria 1
              phosphoribosylpyrophosphate synthetase superactivity 1
              purine nucleoside phosphorylase deficiency 1
              thiopurine S-methyltransferase deficiency + 2
              xanthinuria + 2
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