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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:hyperuricemia
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Accession:DOID:1920 term browser browse the term
Definition:An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. (DO)
Synonyms:exact_synonym: blood urate raized;   uricacidemia
 primary_id: MESH:D033461
 xref: EFO:0009104;   NCI:C3961
For additional species annotation, visit the Alliance of Genome Resources.


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hyperuricemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg2 ATP binding cassette subfamily G member 2 (JR blood group) ISO CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:21821808 NCBI chrNW_004955474:12,365,903...12,408,715 JBrowse link
G Aldh16a1 aldehyde dehydrogenase 16 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chrNW_004955559:1,376,862...1,390,861
Ensembl chrNW_004955559:1,376,977...1,390,841
JBrowse link
G Apln apelin ISO CTD Direct Evidence: therapeutic CTD PMID:30710622 NCBI chrNW_004955473:5,346,822...5,356,359
Ensembl chrNW_004955473:5,346,747...5,356,359
JBrowse link
G Apoe apolipoprotein E susceptibility ISO associated with Metabolic Syndrome X; DNA:missense mutations:cds:p.C112R, p.R158C (human) RGD PMID:15713714 RGD:1601235 NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:23673972 RGD:7244371 NCBI chrNW_004955408:11,047,679...11,070,492 JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chrNW_004955473:462,940...510,006 JBrowse link
G Ins insulin ISO RGD PMID:19033255 RGD:6902897 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
JBrowse link
G Jak2 Janus kinase 2 treatment ISO RGD PMID:23442673 RGD:10411892 NCBI chrNW_004955434:9,227,897...9,341,208
Ensembl chrNW_004955434:9,227,595...9,341,208
JBrowse link
G Slc22a2 solute carrier family 22 member 2 treatment ISO mRNA, protein:decreased expression:kidney RGD PMID:15748710 PMID:21154198 PMID:21909718 RGD:7243180 RGD:7243882 RGD:7244192 NCBI chrNW_004955439:20,567,241...20,608,281
Ensembl chrNW_004955439:20,567,212...20,609,105
JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:18989453 NCBI chrNW_004955514:5,479,585...5,625,328
Ensembl chrNW_004955514:5,479,585...5,625,223
JBrowse link
G Slc5a8 solute carrier family 5 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20589576 NCBI chrNW_004955405:36,717,579...36,769,074
Ensembl chrNW_004955405:36,725,892...36,769,074
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:23442673 RGD:10411892 NCBI chrNW_004955451:16,320,326...16,348,505
Ensembl chrNW_004955451:16,319,904...16,357,687
JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36850003 NCBI chrNW_004955555:274,405...288,441
Ensembl chrNW_004955555:270,652...288,441
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: Medullary cystic kidney disease 2 | ClinVar Annotator: match by term: Medullary cystic kidney disease 2, autosomal dominant | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1 | ClinVar Annotator: match by term: UMOD-Associated Kidney Disease | ClinVar Annotator: match by term: UMOD-related condition | ClinVar Annotator: match by term: Uromodulin-associated kidney disease OMIM
ClinVar
PMID:7396593 PMID:9536098 PMID:10330352 PMID:12205338 PMID:12471200 More... NCBI chrNW_004955442:3,986,936...4,001,155
Ensembl chrNW_004955442:3,985,308...3,999,598
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia ClinVar PMID:9398836 PMID:12148114 PMID:12161522 PMID:15068978 PMID:17878605 More... NCBI chrNW_004955451:320,283...371,420
Ensembl chrNW_004955451:320,283...371,420
JBrowse link
G Muc1 mucin 1, cell surface associated ISO ClinVar Annotator: match by term: MUC1-related condition | ClinVar Annotator: match by term: Tubulointerstitial kidney disease, autosomal dominant, 2 OMIM
ClinVar
PMID:15384011 PMID:23396133 PMID:25741868 PMID:33532864 NCBI chrNW_004955545:1,657,728...1,662,112 JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955411:33,063,056...33,126,325
Ensembl chrNW_004955411:33,063,989...33,126,105
JBrowse link
G Umod uromodulin ISO ClinVar Annotator: match by term: Autosomal dominant medullary cystic kidney disease with or without hyperuricemia ClinVar PMID:20172860 PMID:21868615 PMID:23748428 PMID:25741868 PMID:28492532 More... NCBI chrNW_004955442:3,986,936...4,001,155
Ensembl chrNW_004955442:3,985,308...3,999,598
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISO ClinVar Annotator: match by term: EARLY-ONSET HYPERURICEMIA, ANEMIA, AND PROGRESSIVE KIDNEY FAILURE | ClinVar Annotator: match by term: REN-related condition | ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4 OMIM
ClinVar
PMID:16116425 PMID:19664745 PMID:21084044 PMID:21473025 PMID:22095942 More... NCBI chrNW_004955406:40,016,624...40,026,286
Ensembl chrNW_004955406:40,016,630...40,026,286
JBrowse link
Autosomal Dominant Tubulointerstitial Kidney Disease 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 ClinVar PMID:25741868 PMID:27291889 PMID:28492532 PMID:30270055 PMID:30349881 More... NCBI chrNW_004955441:10,964,588...10,987,771
Ensembl chrNW_004955441:10,964,858...10,986,967
JBrowse link
G Ruvbl1 RuvB like AAA ATPase 1 ISO ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955429:15,598,465...15,632,290
Ensembl chrNW_004955429:15,598,465...15,633,713
JBrowse link
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 5 OMIM
ClinVar
PMID:25741868 PMID:27392076 PMID:28492532 PMID:28782633 PMID:33185949 NCBI chrNW_004955429:15,637,461...15,652,556
Ensembl chrNW_004955429:15,637,325...15,652,556
JBrowse link
familial juvenile hyperuricemic nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Umod uromodulin ISO OMIM:162000 | OMIM:613092 | OMIM:614227 MouseDO NCBI chrNW_004955442:3,986,936...4,001,155
Ensembl chrNW_004955442:3,985,308...3,999,598
JBrowse link
Familial Juvenile Hyperuricemic Nephropathy 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnf1b HNF1 homeobox B ISO ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile type 3 ClinVar PMID:19639018 PMID:24897035 PMID:25536396 PMID:25741167 PMID:25741868 More... NCBI chrNW_004955451:320,283...371,420
Ensembl chrNW_004955451:320,283...371,420
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 chrNW_004955559:1,376,862...1,390,861
Ensembl chrNW_004955559:1,376,977...1,390,841
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 chrNW_004955473:725,822...742,698
Ensembl chrNW_004955473:725,193...736,944
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 chrNW_004955473:969,627...1,431,706
Ensembl chrNW_004955473:969,800...1,431,483
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO ClinVar Annotator: match by term: HPRT1-Related Disorders | ClinVar Annotator: match by term: Partial hypoxanthine-guanine phosphoribosyltransferase deficiency OMIM
ClinVar
PMID:1301916 PMID:1483694 PMID:1487231 PMID:1551676 PMID:1618489 More... NCBI chrNW_004955473:462,940...510,006 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 chrNW_004955473:527,005...586,589
Ensembl chrNW_004955473:527,005...586,627
JBrowse link
HUPRA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sars1 seryl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955435:12,642,485...12,659,833
Ensembl chrNW_004955435:12,641,776...12,660,682
JBrowse link
G Sars2 seryl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME | ClinVar Annotator: match by term: Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:21255763 PMID:24034276 PMID:25741868 More... NCBI chrNW_004955468:603,778...613,475
Ensembl chrNW_004955468:603,778...613,475
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14278
    Pathological Conditions, Signs and Symptoms 11241
      Pathologic Processes 7110
        hyperuricemia 26
          HRPT-related hyperuricemia 5
          HUPRA Syndrome 2
          Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 0
          familial juvenile hyperuricemic nephropathy + 8
Path 2
Term Annotations click to browse term
  disease 14278
    Nutritional and Metabolic Diseases 6966
      disease of metabolism 6966
        acquired metabolic disease 2110
          hyperuricemia 26
            HRPT-related hyperuricemia 5
            HUPRA Syndrome 2
            Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 0
            familial juvenile hyperuricemic nephropathy + 8
paths to the root