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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 ABCG2A ATP binding cassette subfamily G member 2A ISO CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:21821808 NCBI chr 8:130,853,414...130,945,388
Ensembl chr 8:130,889,684...130,945,393
JBrowse link
G ALDH16A1 aldehyde dehydrogenase 16 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr 6:54,528,905...54,551,645
Ensembl chr 6:54,529,468...54,548,144
JBrowse link
G APLN apelin ISO CTD Direct Evidence: therapeutic CTD PMID:30710622 NCBI chr  X:106,236,746...106,246,563
Ensembl chr  X:106,236,749...106,246,377
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 chr 6:51,373,113...51,375,333
Ensembl chr 6:51,372,292...51,375,330
JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO RGD PMID:23673972 RGD:7244371 NCBI chr16:66,162,318...66,208,868 JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr  X:110,321,144...110,357,902
Ensembl chr  X:110,321,204...110,357,894
JBrowse link
G INS insulin ISO RGD PMID:19033255 RGD:6902897 NCBI chr 2:1,496,842...1,498,052
Ensembl chr 2:1,496,842...1,497,841
JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:23442673 RGD:10411892 NCBI chr 1:216,849,744...217,002,310
Ensembl chr 1:216,848,689...217,002,148
JBrowse link
G LCN2 lipocalin 2 ISO RGD PMID:23673972 RGD:7244371 NCBI chr 1:268,609,975...268,614,651
Ensembl chr 1:268,609,887...268,614,644
JBrowse link
G SLC22A1 solute carrier family 22 member 1 treatment ISO RGD PMID:21154198 PMID:21909718 RGD:7243180 RGD:7244192 NCBI chr 1:7,340,442...7,365,543
Ensembl chr 1:7,340,126...7,365,520
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 chr 1:7,289,278...7,323,418
Ensembl chr 1:7,289,831...7,323,146
JBrowse link
G SLC2A9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD
MouseDO
PMID:18989453 NCBI chr 8:6,211,143...6,367,530
Ensembl chr 8:6,210,478...6,367,496
JBrowse link
G SLC5A8 solute carrier family 5 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20589576 NCBI chr 5:82,973,179...83,088,542
Ensembl chr 5:82,973,284...83,031,157
JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:23442673 RGD:10411892 NCBI chr12:20,407,316...20,471,091
Ensembl chr12:20,407,233...20,472,992
JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36850003 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,173...49,349,046
JBrowse link
G XDH xanthine dehydrogenase treatment ISO CTD Direct Evidence: marker/mechanism
protein:altered activity:kidney
CTD
RGD
PMID:22436129 PMID:22690247 PMID:22856880 PMID:26197582 PMID:29071757 RGD:13208955 RGD:7247638 RGD:7247639 RGD:7247642 NCBI chr 3:107,987,060...108,052,043
Ensembl chr 3:107,987,126...108,053,169
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 chr 3:25,473,048...25,492,286
Ensembl chr 3:25,473,162...25,492,278
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 chr12:39,143,119...39,201,631
Ensembl chr12:39,143,121...39,201,631
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 chr 4:94,626,317...94,631,194 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 chr 1:74,003,428...74,078,605
Ensembl chr 1:74,000,688...74,078,582
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 chr 3:25,473,048...25,492,286
Ensembl chr 3:25,473,162...25,492,278
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 chr 9:64,809,143...64,822,605
Ensembl chr 9:64,809,146...64,822,658
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 chr 3:96,616,304...96,656,893
Ensembl chr 3:96,616,246...96,656,889
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 chr13:72,196,219...72,246,514
Ensembl chr13:72,200,511...72,248,582
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 chr13:72,254,462...72,276,484
Ensembl chr13:72,254,464...72,269,914
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 chr 3:25,473,048...25,492,286
Ensembl chr 3:25,473,162...25,492,278
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 chr12:39,143,119...39,201,631
Ensembl chr12:39,143,121...39,201,631
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 6:54,528,905...54,551,645
Ensembl chr 6:54,529,468...54,548,144
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:110,159,833...110,170,354
Ensembl chr  X:110,159,912...110,170,350
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:109,536,495...109,973,605
Ensembl chr  X:109,536,504...109,973,607
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 chr  X:110,321,144...110,357,902
Ensembl chr  X:110,321,204...110,357,894
JBrowse link
G MIR19B-2 microRNA mir-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:110,113,855...110,113,934
Ensembl chr  X:110,113,855...110,113,934
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:110,249,010...110,311,503
Ensembl chr  X:110,249,010...110,303,017
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 chr 4:110,857,067...110,874,712
Ensembl chr 4:110,857,089...110,874,815
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 chr 6:47,717,363...47,728,394
Ensembl chr 6:47,716,679...47,728,310
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15353
    Pathological Conditions, Signs and Symptoms 11992
      Pathologic Processes 7593
        hyperuricemia 30
          HRPT-related hyperuricemia 6
          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 15353
    Nutritional and Metabolic Diseases 7357
      disease of metabolism 7357
        acquired metabolic disease 2255
          hyperuricemia 30
            HRPT-related hyperuricemia 6
            HUPRA Syndrome 2
            Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 0
            familial juvenile hyperuricemic nephropathy + 8
paths to the root