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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 type II primary hyperoxaluria, OMIM:260000
ClinVar Annotator: match by term: Primary hyperoxaluria
ClinVar 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: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 16085
    disease of anatomical entity 15340
      Urogenital Diseases 4175
        urinary system disease 2087
          kidney disease 1874
            Hyperoxaluria 28
              primary hyperoxaluria + 19
paths to the root