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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


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 aminotransferase ISO DNA:mutations:cds: RGD PMID:8101040 PMID:2039493 RGD:1302510, RGD:1300367 NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284884 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		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
RGD		 PMID:16284884 PMID:16284884 RGD:2307164 NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377 		JBrowse link
G Havcr1 hepatitis A virus cellular receptor 1 IEP mRNA,protein:increased expression:kidney, urine RGD PMID:22984472 RGD:7245498 NCBI chr10:31,118,667...31,151,730
Ensembl chr10:31,119,088...31,151,698 		JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Hyperoxaluria ClinVar PMID:25741868 PMID:28492532 NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Il6 interleukin 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284884 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16284884 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Rap1a RAP1A, member of RAS oncogene family IEP mRNA:increased expression:kidney (rat) RGD PMID:23091645 RGD:10040961 NCBI chr 2:193,208,631...193,286,513
Ensembl chr 2:193,208,635...193,286,501 		JBrowse link
G Runx2 RUNX family transcription factor 2 IEP mRNA:increased expression:kidney RGD PMID:26122267 RGD:11251713 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hyperoxaluria		 CTD
ClinVar		 PMID:20160351 PMID:25741868 PMID:28492532 NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		JBrowse link
G Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Hyperoxaluria ClinVar PMID:25741868 NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778 		JBrowse link
G Slc26a7 solute carrier family 26 member 7 ISO ClinVar Annotator: match by term: Hyperoxaluria ClinVar PMID:25741868 NCBI chr 5:27,884,400...28,021,865
Ensembl chr 5:27,887,042...28,021,658 		JBrowse link
G Xdh xanthine dehydrogenase IEP protein:increased expression:kidney RGD PMID:26241473 RGD:13208954 NCBI chr 6:21,530,463...21,592,172
Ensembl chr 6:21,530,113...21,592,268 		JBrowse link
primary hyperoxaluria term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agxt alanine--glyoxylate aminotransferase ISO ClinVar Annotator: match by term: Primary hyperoxaluria ClinVar PMID:1301173 PMID:1349575 PMID:1703535 PMID:1961759 PMID:2039493 More... NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Primary hyperoxaluria ClinVar PMID:22661499 PMID:25326635 PMID:25741868 PMID:28492532 PMID:33146414 NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO type II primary hyperoxaluria, OMIM:260000
ClinVar Annotator: match by term: Primary hyperoxaluria		 ClinVar
RGD		 PMID:11030416 PMID:14635115 PMID:24116921 PMID:25629080 PMID:25644115 More... RGD:1599318 NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		JBrowse link
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 ISS
ISO		 OMIM:260000 | OMIM:613616
ClinVar Annotator: match by term: Primary hyperoxaluria		 MouseDO
ClinVar		 PMID:28492532 NCBI chr 1:240,856,991...240,884,243
Ensembl chr 1:240,857,126...240,884,568 		JBrowse link
G Mocos molybdenum cofactor sulfurase ISO ClinVar Annotator: match by term: Primary hyperoxaluria ClinVar PMID:25741868 NCBI chr18:15,931,659...15,977,415
Ensembl chr18:15,931,654...15,977,187 		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 aminotransferase ISO
ISS		 ClinVar Annotator: match by term: Primary hyperoxaluria, type I
OMIM:259900
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:1301173 PMID:1349575 PMID:1703535 PMID:1879825 PMID:1961759 More... NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336 		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 9:93,423,664...93,476,651
Ensembl chr 9:93,423,963...93,477,236 		JBrowse link
G Aqp12a aquaporin 12A ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:93,554,527...93,560,011
Ensembl chr 9:93,554,527...93,560,011 		JBrowse link
G Capn10 calpain 10 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:93,498,132...93,510,494
Ensembl chr 9:93,498,478...93,510,494 		JBrowse link
G Cops9 COP9 signalosome subunit 9 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:93,209,843...93,214,774
Ensembl chr 9:93,209,843...93,213,317 		JBrowse link
G Dusp28 dual specificity phosphatase 28 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:93,472,832...93,474,207 JBrowse link
G Gpc1 glypican 1 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:93,396,234...93,424,047
Ensembl chr 9:93,396,234...93,424,047 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:93,527,165...93,539,573
Ensembl chr 9:93,527,127...93,539,299 		JBrowse link
G Gpt glutamic--pyruvic transaminase treatment ISO RGD PMID:27239044 RGD:13782155 NCBI chr 7:108,416,646...108,419,495
Ensembl chr 7:108,416,642...108,419,494 		JBrowse link
G Hdac4 histone deacetylase 4 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:92,503,467...92,750,164
Ensembl chr 9:92,507,611...92,750,164 		JBrowse link
G Kif1a kinesin family member 1A ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:93,563,033...93,647,412
Ensembl chr 9:93,563,045...93,647,480 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:93,007,034...93,041,825
Ensembl chr 9:93,007,042...93,042,560 		JBrowse link
G Or6b2 olfactory receptor family 6 subfamily B member 2 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:93,048,475...93,049,413
Ensembl chr 9:93,045,014...93,053,641 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:93,216,948...93,220,614
Ensembl chr 9:93,216,948...93,218,466 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:93,476,600...93,486,331
Ensembl chr 9:93,472,390...93,486,331 		JBrowse link
primary hyperoxaluria type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fkbp10 FKBP prolyl isomerase 10 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type II ClinVar PMID:9129737 PMID:22949511 PMID:25741868 PMID:28492532 PMID:29620724 NCBI chr10:85,345,434...85,357,998
Ensembl chr10:85,346,126...85,427,330 		JBrowse link
G Grhpr glyoxylate and hydroxypyruvate reductase ISO
ISS		 ClinVar Annotator: match by term: Primary hyperoxaluria, type II
OMIM:260000
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:10484776 PMID:11030416 PMID:11477177 PMID:12185464 More... NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603 		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 3 OMIM
ClinVar		 PMID:2277189 PMID:3386585 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 1:240,856,991...240,884,243
Ensembl chr 1:240,857,126...240,884,568 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19072
    disease of anatomical entity 18365
      Urogenital Diseases 5279
        urinary system disease 2851
          kidney disease 2602
            Hyperoxaluria 32
              primary hyperoxaluria + 20
paths to the root