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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:Hyperoxaluria
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Accession:DOID:9004912 term browser browse the term
Definition:Excretion of an excessive amount of OXALATES in the urine.
Synonyms:exact_synonym: Oxalosis;   Oxaluria
 primary_id: MESH:D006959;   RDO:0001999
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hyperoxaluria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO DNA:mutations:cds: RGD PMID:8101040, PMID:2039493 RGD:1302510, RGD:1300367 NCBI chr 9:100,281,339...100,291,292
Ensembl chr 9:100,281,339...100,291,291
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284884 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl5 C-C motif chemokine ligand 5 IEP
ISO
protein:increased expression:renal tubule, epithelial cell (rat)
CTD Direct Evidence: marker/mechanism
CTD PMID:16284884, PMID:16284884 RGD:2307164 NCBI chr10:70,739,764...70,744,303
Ensembl chr10:70,739,800...70,744,315
JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 IEP mRNA,protein:increased expression:kidney, urine RGD PMID:22984472 RGD:7245498 NCBI chr10:31,813,819...31,860,934
Ensembl chr10:31,813,814...31,848,379
JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284884 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284884 NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Rap1a RAP1A, member of RAS oncogene family IEP mRNA:increased expression:kidney (rat) RGD PMID:23091645 RGD:10040961 NCBI chr 2:208,193,950...208,215,186
Ensembl chr 2:208,193,954...208,215,187
JBrowse link
G Runx2 RUNX family transcription factor 2 IEP mRNA:increased expression:kidney RGD PMID:26122267 RGD:11251713 NCBI chr 9:18,564,743...18,773,092
Ensembl chr 9:18,564,927...18,773,092
JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20160351 NCBI chr14:2,050,805...2,056,091
Ensembl chr14:2,050,483...2,056,089
JBrowse link
G Xdh xanthine dehydrogenase IEP protein:increased expression:kidney RGD PMID:26241473 RGD:13208954 NCBI chr 6:25,149,570...25,211,273
Ensembl chr 6:25,149,235...25,211,494
JBrowse link
primary hyperoxaluria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Primary hyperoxaluria ClinVar PMID:1703535, PMID:1961759, PMID:8101040, PMID:9136629, PMID:9192270, PMID:10453743, PMID:10541294, PMID:10960483, PMID:11562405, PMID:11708860, PMID:12777626, PMID:15110324, PMID:15253729, PMID:15327387, PMID:15356974, PMID:15464418, PMID:15802217, PMID:15840016, PMID:15963748, PMID:16208537, PMID:16850020, PMID:16912707, PMID:17110443, PMID:17460142, PMID:17495019, PMID:18282470, PMID:18782763, PMID:18985333, PMID:19155213, PMID:19479957, PMID:20016466, PMID:20301460, PMID:20713123, PMID:22529745, PMID:22844106, PMID:23229545, PMID:24012869, PMID:24033266, PMID:24205397, PMID:24988064, PMID:24990153, PMID:25363903, PMID:25629080, PMID:25644115, PMID:25741868, PMID:26383609, PMID:27135212, PMID:27512303, PMID:27915025, PMID:28492532, PMID:28619084, PMID:28893421 NCBI chr 9:100,281,339...100,291,292
Ensembl chr 9:100,281,339...100,291,291
JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO
ISS
type II primary hyperoxaluria, OMIM:260000
ClinVar Annotator: match by term: Primary hyperoxaluria
OMIM:260000 | OMIM:613616
ClinVar
MouseDO
PMID:11030416, PMID:14635115, PMID:24116921, PMID:25629080, PMID:28492532, PMID:10484776 RGD:1599318 NCBI chr 5:60,528,981...60,538,410
Ensembl chr 5:60,528,997...60,538,375
JBrowse link
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 ISO
ISS
ClinVar Annotator: match by term: Primary hyperoxaluria
OMIM:260000 | OMIM:613616
ClinVar
MouseDO
NCBI chr 1:261,291,742...261,319,743
Ensembl chr 1:261,291,870...261,318,984
JBrowse link
G Mocos molybdenum cofactor sulfurase ISO ClinVar Annotator: match by term: Primary hyperoxaluria ClinVar PMID:25741868 NCBI chr18:16,590,086...16,636,312
Ensembl chr18:16,590,197...16,636,084
JBrowse link
primary hyperoxaluria type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I
ClinVar Annotator: match by OMIM:259900
OMIM
ClinVar
PMID:1301173, PMID:1349575, PMID:1703535, PMID:1879825, PMID:1961759, PMID:2039493, PMID:7967498, PMID:8101040, PMID:9002528, PMID:9136629, PMID:9192270, PMID:9604803, PMID:10394939, PMID:10453743, PMID:10541294, PMID:10737993, PMID:10862087, PMID:10960483, PMID:11562405, PMID:11708860, PMID:12559847, PMID:12768081, PMID:12777626, PMID:12899834, PMID:15110324, PMID:15253729, PMID:15327387, PMID:15356974, PMID:15365967, PMID:15464418, PMID:15802217, PMID:15840016, PMID:15849466, PMID:15961945, PMID:15961946, PMID:15963748, PMID:16208537, PMID:16850020, PMID:16912707, PMID:16971151, PMID:17110443, PMID:17460142, PMID:17495019, PMID:17696873, PMID:18282470, PMID:18448374, PMID:18782763, PMID:18810341, PMID:18985333, PMID:19155213, PMID:19479957, PMID:20016466, PMID:20133649, PMID:20301460, PMID:20544097, PMID:20549407, PMID:20564000, PMID:20573805, PMID:20713123, PMID:21705122, PMID:21850686, PMID:22018727, PMID:22529745, PMID:22685354, PMID:22781098, PMID:22821680, PMID:22844106, PMID:22923379, PMID:23229545, PMID:23430879, PMID:23439734, PMID:23551880, PMID:23589421, PMID:23810941, PMID:23861508, PMID:24012869, PMID:24033266, PMID:24055001, PMID:24205397, PMID:24385516, PMID:24718375, PMID:24934730, PMID:24988064, PMID:24990153, PMID:25296721, PMID:25363903, PMID:25629080, PMID:25644115, PMID:25741868, PMID:26149463, PMID:26252291, PMID:26383609, PMID:27135212, PMID:27512303, PMID:27568336, PMID:27644547, PMID:27659337, PMID:27915025, PMID:27935012, PMID:28492532, PMID:28619084, PMID:28893421, PMID:29244539, PMID:29456205, PMID:29590070, PMID:29959618, PMID:30341509, PMID:30488096, PMID:30541997 NCBI chr 9:100,281,339...100,291,292
Ensembl chr 9:100,281,339...100,291,291
JBrowse link
G Ankmy1 ankyrin repeat and MYND domain containing 1 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:100,026,435...100,074,274
Ensembl chr 9:100,038,846...100,070,650
JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:100,156,154...100,166,218
Ensembl chr 9:100,156,154...100,166,218
JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:100,104,000...100,112,833
Ensembl chr 9:100,104,000...100,112,832
JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:99,813,332...99,818,262
Ensembl chr 9:99,813,332...99,818,262
JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:100,072,421...100,078,487
Ensembl chr 9:100,076,958...100,078,788
JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:99,998,275...100,026,818
Ensembl chr 9:99,998,275...100,026,818
JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:100,129,428...100,141,269
Ensembl chr 9:100,137,881...100,138,801
JBrowse link
G Gpt glutamic--pyruvic transaminase treatment ISO RGD PMID:27239044 RGD:13782155 NCBI chr 7:117,759,083...117,761,932
Ensembl chr 7:117,759,083...117,761,931
JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:99,052,945...99,299,715
Ensembl chr 9:99,057,089...99,299,715
JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:100,171,851...100,253,626
Ensembl chr 9:100,171,772...100,253,609
JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:99,617,051...99,651,827
Ensembl chr 9:99,617,052...99,651,813
JBrowse link
G Olr1343 olfactory receptor 1343 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:99,656,296...99,659,425
Ensembl chr 9:99,658,487...99,659,425
JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:99,819,578...99,824,218
Ensembl chr 9:99,820,414...99,821,954
JBrowse link
G Prr21 proline rich 21 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 4:61,220,386...61,222,956 JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:100,080,144...100,089,834
Ensembl chr 9:100,080,144...100,089,834
JBrowse link
primary hyperoxaluria type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type II
ClinVar Annotator: match by OMIM:260000
OMIM
ClinVar
PMID:10484776, PMID:11030416, PMID:11477177, PMID:12185464, PMID:14635115, PMID:15327387, PMID:16306119, PMID:17510093, PMID:18560364, PMID:19296982, PMID:24033266, PMID:24116921, PMID:25410531, PMID:25525159, PMID:25629080, PMID:25644115, PMID:25741868, PMID:26167114, PMID:26484032, PMID:28492532, PMID:28569194, PMID:28893421 NCBI chr 5:60,528,981...60,538,410
Ensembl chr 5:60,528,997...60,538,375
JBrowse link
primary hyperoxaluria type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type III
ClinVar Annotator: match by OMIM:613616
OMIM
ClinVar
PMID:20797690, PMID:21896830, PMID:21998747, PMID:22391140, PMID:22771891, PMID:22781098, PMID:22851625, PMID:24033266, PMID:24563386, PMID:25203624, PMID:25629080, PMID:25644115, PMID:25741868, PMID:25972204, PMID:26340091, PMID:27096395, PMID:27561601, PMID:27742850, PMID:28492532, PMID:28711958, PMID:30488096 NCBI chr 1:261,291,742...261,319,743
Ensembl chr 1:261,291,870...261,318,984
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      Urogenital Diseases 4143
        urinary system disease 2066
          kidney disease 1854
            Hyperoxaluria 28
              primary hyperoxaluria + 19
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.