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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.


show annotations for term's descendants           Sort by:
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 chr 4:80,379,108...80,446,641
Ensembl chr 4:91,101,321...91,170,157 		JBrowse link
G ALDH16A1 aldehyde dehydrogenase 16 family member A1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr19:46,466,683...46,483,567
Ensembl chr19:55,389,095...55,406,684 		JBrowse link
G APLN apelin ISO CTD Direct Evidence: therapeutic CTD PMID:30710622 NCBI chr  X:118,775,509...118,785,224 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 chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490 		JBrowse link
G HAVCR1 hepatitis A virus cellular receptor 1 ISO RGD PMID:23673972 RGD:7244371 NCBI chr 5:152,429,337...152,459,800
Ensembl chr 5:158,413,073...158,442,481 		JBrowse link
G HPRT1 hypoxanthine phosphoribosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr  X:123,609,248...123,650,102
Ensembl chr  X:133,916,681...133,948,197 		JBrowse link
G INS insulin ISO RGD PMID:19033255 RGD:6902897 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666 		JBrowse link
G JAK2 Janus kinase 2 treatment ISO RGD PMID:23442673 RGD:10411892 NCBI chr 9:4,820,303...4,971,867
Ensembl chr 9:5,006,271...5,156,626 		JBrowse link
G LCN2 lipocalin 2 ISO RGD PMID:23673972 RGD:7244371 NCBI chr 9:99,259,278...99,274,494
Ensembl chr 9:127,940,799...127,944,798 		JBrowse link
G SLC22A1 solute carrier family 22 member 1 treatment ISO RGD PMID:21154198 PMID:21909718 RGD:7243180 RGD:7244192 NCBI chr 6:158,004,545...158,046,428
Ensembl chr 6:163,014,663...163,054,681 		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 6:158,058,226...158,150,917
Ensembl chr 6:163,065,317...163,158,931 		JBrowse link
G SLC2A9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD
MouseDO		 PMID:18989453 NCBI chr 4:4,232,737...4,442,387
Ensembl chr 4:9,553,491...9,746,981 		JBrowse link
G SLC5A8 solute carrier family 5 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20589576 NCBI chr12:98,735,175...98,795,478
Ensembl chr12:102,137,701...102,198,148 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:23442673 RGD:10411892 NCBI chr17:14,928,689...15,003,644
Ensembl chr17:15,152,358...15,227,067 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36850003 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
G XDH xanthine dehydrogenase treatment ISO protein:altered activity:kidney
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:22436129 PMID:22690247 PMID:22856880 PMID:26197582 PMID:29071757 RGD:13208955 RGD:7247638 RGD:7247639 RGD:7247642 NCBI chr2A:31,356,011...31,435,111
Ensembl chr2A:31,425,183...31,504,455 		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 chr16:17,960,456...17,980,338
Ensembl chr16:20,430,085...20,449,121 		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 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 1:130,533,508...130,537,866
Ensembl chr 1:134,141,969...134,145,850 		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 1:179,757,653...179,769,530
Ensembl chr 1:184,046,117...184,057,393 		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 chr2A:43,896,188...43,922,756
Ensembl chr2A:44,745,183...44,771,012 		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 chr 3:125,120,524...125,200,859
Ensembl chr 3:132,486,229...132,528,918 		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 chr 3:125,091,916...125,111,238
Ensembl chr 3:132,457,005...132,476,935 		JBrowse link
familial juvenile hyperuricemic nephropathy 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 tubulointerstitial kidney disease ClinVar PMID:9398836 PMID:12148114 PMID:12161522 PMID:15068978 PMID:17878605 More... NCBI chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863 		JBrowse link
G SEC63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:105,673,265...105,757,422
Ensembl chr 6:109,538,184...109,595,518 		JBrowse link
G UMOD uromodulin ISO ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease ClinVar PMID:20172860 PMID:21868615 PMID:23748428 PMID:25741868 PMID:28492532 More... NCBI chr16:17,960,456...17,980,338
Ensembl chr16:20,430,085...20,449,121 		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 chr17:19,333,485...19,392,147
Ensembl chr17:19,633,424...19,691,863 		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 chr19:46,466,683...46,483,567
Ensembl chr19:55,389,095...55,406,684 		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:123,383,867...123,393,449 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:122,677,072...123,131,511
Ensembl chr  X:132,979,612...133,432,441 		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:123,609,248...123,650,102
Ensembl chr  X:133,916,681...133,948,197 		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:123,521,956...123,578,256
Ensembl chr  X:133,822,260...133,873,990 		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 1:111,590,850...111,615,068
Ensembl chr 1:110,755,054...110,779,704 		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 chr19:36,015,983...36,037,404
Ensembl chr19:44,565,214...44,568,594
Ensembl chr19:44,565,214...44,568,594
Ensembl chr19:44,565,214...44,568,594 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15686
    Pathological Conditions, Signs and Symptoms 12047
      Pathologic Processes 7439
        hyperuricemia 29
          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 15686
    Nutritional and Metabolic Diseases 7197
      disease of metabolism 7197
        acquired metabolic disease 2191
          hyperuricemia 29
            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