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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:Excessive URIC ACID or urate in blood as defined by its solubility in plasma at 37 degrees C; greater than 0.42mmol per liter (7.0mg/dL) in men or 0.36mmol per liter (6.0mg/dL) in women. This condition is caused by overproduction of uric acid or impaired renal clearance. Hyperuricemia can be acquired, drug-induced or genetically determined (LESCH-NYHAN SYNDROME). It is associated with HYPERTENSION and GOUT.
Synonyms:exact_synonym: Blood urate raized;   uricacidemia
 primary_id: MESH:D033461;   RDO:0003578
 xref: 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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21821808 NCBI chr 4:88,765,441...88,890,268
Ensembl chr 4:88,832,178...88,890,621
JBrowse link
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 Apln apelin ISO CTD Direct Evidence: therapeutic CTD PMID:30710622 NCBI chr  X:134,856,719...134,866,210
Ensembl chr  X:134,856,726...134,866,210
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 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:23673972 RGD:7244371 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperuricemia
CTD
ClinVar
PMID:2928313, PMID:23348497, PMID:23975452, PMID:28492532, PMID:30311386 NCBI chr  X:158,196,640...158,228,815
Ensembl chr  X:158,197,149...158,228,749
JBrowse link
G Ins2 insulin 2 ISO RGD PMID:19033255 RGD:6902897 NCBI chr 1:215,856,967...215,858,034
Ensembl chr 1:215,856,971...215,858,034
JBrowse link
G Jak2 Janus kinase 2 treatment IDA RGD PMID:23442673 RGD:10411892 NCBI chr 1:247,398,667...247,457,521
Ensembl chr 1:247,398,598...247,458,509
JBrowse link
G Lcn2 lipocalin 2 ISO RGD PMID:23673972 RGD:7244371 NCBI chr 3:11,414,189...11,417,534
Ensembl chr 3:11,414,186...11,417,546
JBrowse link
G Ren renin ISO ClinVar Annotator: match by term: Hyperuricemia ClinVar PMID:30311386 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Slc22a1 solute carrier family 22 member 1 treatment ISO RGD PMID:21909718, PMID:21154198 RGD:7243180, RGD:7244192 NCBI chr 1:48,273,639...48,300,645
Ensembl chr 1:48,273,611...48,300,655
JBrowse link
G Slc22a2 solute carrier family 22 member 2 treatment ISO
IEP
mRNA, protein:decreased expression:kidney RGD PMID:21909718, PMID:21154198, PMID:15748710 RGD:7243180, RGD:7244192, RGD:7243882 NCBI chr 1:48,318,025...48,360,219
Ensembl chr 1:48,317,995...48,360,261
JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18989453 NCBI chr14:77,067,537...77,192,702
Ensembl chr14:77,067,503...77,192,702
JBrowse link
G Slc5a8 solute carrier family 5 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20589576 NCBI chr 7:29,434,175...29,476,807
Ensembl chr 7:29,435,444...29,477,947
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment IDA RGD PMID:23442673 RGD:10411892 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Umod uromodulin ISO ClinVar Annotator: match by term: Hyperuricemia ClinVar PMID:30311386 NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
JBrowse link
G Xdh xanthine dehydrogenase treatment ISO
IDA
CTD Direct Evidence: marker/mechanism
protein:altered activity:kidney
CTD PMID:29071757, PMID:22856880, PMID:26197582, PMID:22436129, PMID:22690247 RGD:7247638, RGD:13208955, RGD:7247642, RGD:7247639 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
familial juvenile hyperuricemic nephropathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ren renin ISS OMIM:162000 | OMIM:613092 | OMIM:614227 MouseDO NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
JBrowse link
G Umod uromodulin ISS OMIM:162000 | OMIM:613092 | OMIM:614227 MouseDO NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
JBrowse link
Familial Juvenile Hyperuricemic Nephropathy 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 OMIM:162000
ClinVar Annotator: match by term: HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 1
ClinVar Annotator: match by term: Uromodulin-associated kidney disease
ClinVar Annotator: match by term: UMOD-Associated Kidney Disease
OMIM
ClinVar
PMID:12205338, PMID:12471200, PMID:12629136, PMID:12634862, PMID:14531790, PMID:14569098, PMID:15589826, PMID:15983957, 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
Familial Juvenile Hyperuricemic Nephropathy 2 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: Hyperuricemic nephropathy, familial juvenile, 2
ClinVar Annotator: match by OMIM:613092
OMIM
ClinVar
PMID:19664745, PMID:25741868, PMID:28492532 NCBI chr13:50,502,724...50,513,953
Ensembl chr13:50,502,724...50,514,151
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, 3 ClinVar PMID:25741868 NCBI chr10:71,159,863...71,218,902
Ensembl chr10:71,159,869...71,218,902
JBrowse link
Familial Juvenile Hyperuricemic Nephropathy 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile, 4 ClinVar
OMIM
PMID:27392076 NCBI chr 4:120,453,577...120,467,932
Ensembl chr 4:120,453,581...120,467,932
JBrowse link
Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria 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 OMIM:609886
OMIM
ClinVar
PMID:12629136, PMID:14570709, PMID:15983957 NCBI chr 1:189,186,027...189,199,939
Ensembl chr 1:189,186,026...189,199,376
JBrowse link
HUPRA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 OMIM:613845
OMIM
ClinVar
PMID:21255763, PMID:28492532 NCBI chr 1:86,923,769...86,935,506
Ensembl chr 1:86,923,591...86,935,904
JBrowse link

Term paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.