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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.



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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 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21821808 NCBI chr 4:87,676,241...87,802,757
Ensembl chr 4:87,745,319...87,802,409
JBrowse link
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 Apln apelin ISO CTD Direct Evidence: therapeutic CTD PMID:30710622 NCBI chr  X:127,180,801...127,213,567
Ensembl chr  X:127,203,823...127,213,391
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 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 ISO RGD PMID:23673972 RGD:7244371 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698
JBrowse link
G Hprt1 hypoxanthine phosphoribosyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23348497 NCBI chr  X:132,736,175...132,768,149
Ensembl chr  X:132,736,096...132,768,154
JBrowse link
G Ins2 insulin 2 ISO RGD PMID:19033255 RGD:6902897 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775
JBrowse link
G Jak2 Janus kinase 2 treatment IDA RGD PMID:23442673 RGD:10411892 NCBI chr 1:226,995,334...227,054,381
Ensembl chr 1:226,995,334...227,054,189
JBrowse link
G Lcn2 lipocalin 2 ISO RGD PMID:23673972 RGD:7244371 NCBI chr 3:15,680,688...15,684,033
Ensembl chr 3:15,680,687...15,684,095
JBrowse link
G Slc22a1 solute carrier family 22 member 1 treatment ISO RGD PMID:21909718 PMID:21154198 RGD:7243180, RGD:7244192 NCBI chr 1:48,076,657...48,103,679
Ensembl chr 1:48,076,666...48,103,678
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 1:48,121,061...48,163,268
Ensembl chr 1:48,121,061...48,163,268
JBrowse link
G Slc2a9 solute carrier family 2 member 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18989453 NCBI chr14:72,328,334...72,461,981
Ensembl chr14:72,328,320...72,461,981
JBrowse link
G Slc5a8 solute carrier family 5 member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20589576 NCBI chr 7:23,272,891...23,313,811
Ensembl chr 7:23,272,427...23,314,642
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment IDA RGD PMID:23442673 RGD:10411892 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Xdh xanthine dehydrogenase treatment ISO
IDA
CTD Direct Evidence: marker/mechanism
protein:altered activity:kidney
CTD
RGD
PMID:29071757 PMID:22856880 PMID:26197582 PMID:22436129 PMID:22690247 RGD:7247638, RGD:13208955, RGD:7247642, RGD:7247639 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268
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 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
ClinVar Annotator: match by term: Familial juvenile gout
ClinVar Annotator: match by term: MEDULLARY CYSTIC KIDNEY DISEASE 2, AUTOSOMAL DOMINANT
OMIM
ClinVar
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
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 DNA:mutation::
ClinVar Annotator: match by term: Medullary cystic kidney disease 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:174000
ClinVar
CTD
OMIM
RGD
PMID:15384011 PMID:23396133 PMID:25741868 PMID:33532864 PMID:23396133 RGD:7244289 NCBI chr 2:174,635,559...174,640,738
Ensembl chr 2:174,635,995...174,640,733
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: Hyperuricemic nephropathy, familial juvenile, 2
ClinVar Annotator: match by OMIM:613092
OMIM
ClinVar
PMID:16116425 PMID:19664745 PMID:25741868 PMID:28492532 PMID:33532864 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
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 Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Hyperuricemic nephropathy, familial juvenile, 4 ClinVar
OMIM
PMID:27392076 NCBI chr 4:120,973,519...120,987,871
Ensembl chr 4:120,960,626...120,987,925
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:12161522 PMID:17878605 PMID:25536396 PMID:25700310 PMID:25741868 More... NCBI chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
JBrowse link
G Ren renin ISS OMIM:162000 | OMIM:613092 | OMIM:614227 MouseDO NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489
JBrowse link
G Sec63 SEC63 homolog, protein translocation regulator ISO ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease ClinVar NCBI chr20:46,245,101...46,314,055
Ensembl chr20:46,245,101...46,314,055
JBrowse link
G Umod uromodulin ISS
ISO
OMIM:162000 | OMIM:613092 | OMIM:614227
ClinVar Annotator: match by term: Autosomal dominant tubulointerstitial kidney disease
MouseDO
ClinVar
NCBI chr 1:173,816,341...173,829,681
Ensembl chr 1:173,816,339...173,830,302
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 chr10:68,735,894...68,789,888
Ensembl chr10:68,735,894...68,789,888
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
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
DNA:missense mutation:CDS:p.D390G (human)
ClinVar Annotator: match by OMIM:613845
OMIM
ClinVar
RGD
PMID:21255763 PMID:24034276 PMID:25741868 PMID:28492532 PMID:21255763 RGD:41410777 NCBI chr 1:84,028,972...84,040,725
Ensembl chr 1:84,028,986...84,040,725
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    Pathological Conditions, Signs and Symptoms 10261
      Pathologic Processes 6709
        hyperuricemia 27
          HRPT-related hyperuricemia 7
          HUPRA Syndrome 1
          Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 0
          familial juvenile hyperuricemic nephropathy + 6
Path 2
Term Annotations click to browse term
  disease 17251
    Nutritional and Metabolic Diseases 5548
      disease of metabolism 5548
        acquired metabolic disease 2896
          hyperuricemia 27
            HRPT-related hyperuricemia 7
            HUPRA Syndrome 1
            Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase 0
            familial juvenile hyperuricemic nephropathy + 6
paths to the root