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
Accession: DOID:9004912
browse the term
Definition: Excretion of an excessive amount of OXALATES in the urine.
Synonyms: exact_synonym: oxalosis; oxaluria
primary_id: MESH:D006959
G
Agxt
alanine--glyoxylate aminotransferase
ISO
DNA:mutations:cds: ClinVar Annotator: match by term: Hyperoxaluria
ClinVar RGD
PMID:10453743 PMID:10541294 PMID:16971151 PMID:17460142 PMID:17495019 PMID:23810941 PMID:24988064 PMID:25741868 PMID:27935012 PMID:28492532 PMID:8101040 PMID:2039493 More...
RGD:1302510 , RGD:1300367
NCBI chr 9:101,122,793...101,132,746
Ensembl chr 9:93,675,384...93,685,336
G
Ccl2
C-C motif chemokine ligand 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16284884
NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,005,424...67,007,226
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 chr10:68,820,330...68,824,906
Ensembl chr10:68,322,829...68,327,377
G
Havcr1
hepatitis A virus cellular receptor 1
IEP
mRNA,protein:increased expression:kidney, urine
RGD
PMID:22984472
RGD:7245498
NCBI chr10:31,619,914...31,652,955
Ensembl chr10:31,119,088...31,151,698
G
Idua
alpha-L-iduronidase
ISO
ClinVar Annotator: match by term: Hyperoxaluria
ClinVar
PMID:25741868 PMID:28492532
NCBI chr14:1,175,994...1,203,913
Ensembl chr14:1,032,171...1,046,522
G
Il6
interleukin 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16284884
NCBI chr 4:5,889,999...5,894,575
Ensembl chr 4:5,213,394...5,219,178
G
Nfkb1
nuclear factor kappa B subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16284884
NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:224,016,214...224,110,404
G
Rap1a
RAP1A, member of RAS oncogene family
IEP
mRNA:increased expression:kidney (rat)
RGD
PMID:23091645
RGD:10040961
NCBI chr 2:195,896,967...195,974,851
Ensembl chr 2:193,208,635...193,286,501
G
Runx2
RUNX family transcription factor 2
IEP
mRNA:increased expression:kidney
RGD
PMID:26122267
RGD:11251713
NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:16,167,482...16,492,167
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 chr14:1,180,465...1,190,257
Ensembl chr14:1,040,243...1,045,849
G
Slc26a6
solute carrier family 26 member 6
ISO
ClinVar Annotator: match by term: Hyperoxaluria
ClinVar
PMID:25741868
NCBI chr 8:118,438,110...118,448,271
Ensembl chr 8:109,559,642...109,569,778
G
Slc26a7
solute carrier family 26 member 7
ISO
ClinVar Annotator: match by term: Hyperoxaluria
ClinVar
PMID:25741868
NCBI chr 5:32,681,653...32,819,110
Ensembl chr 5:27,887,042...28,021,658
G
Xdh
xanthine dehydrogenase
IEP
protein:increased expression:kidney
RGD
PMID:26241473
RGD:13208954
NCBI chr 6:27,282,319...27,344,022
Ensembl chr 6:21,530,113...21,592,268
G
Agxt
alanine--glyoxylate aminotransferase
ISO
ClinVar Annotator: match by term: Primary hyperoxaluria
ClinVar
PMID:1301173 PMID:1349575 PMID:1703535 PMID:1961759 PMID:2039493 PMID:8101040 PMID:9002528 PMID:9136629 PMID:9192270 PMID:9604803 PMID:10400689 PMID:10453743 PMID:10541294 PMID:10862087 PMID:10960483 PMID:11562405 PMID:11708860 PMID:12559847 PMID:12737622 PMID:12768081 PMID:12777626 PMID:15110324 PMID:15253729 PMID:15327387 PMID:15356974 PMID:15365967 PMID:15464418 PMID:15802217 PMID:15840016 PMID:15961945 PMID:15961946 PMID:15963748 PMID:16199547 PMID:16208537 PMID:16850020 PMID:16912707 PMID:16971151 PMID:17110443 PMID:17460142 PMID:17495019 PMID:17696873 PMID:18282470 PMID:18448374 PMID:18782763 PMID:18985333 PMID:19155213 PMID:19479957 PMID:19571789 PMID:20016466 PMID:20133649 PMID:20208150 PMID:20301460 PMID:20564000 PMID:20713123 PMID:22018727 PMID:22529745 PMID:22821680 PMID:22844106 PMID:22923379 PMID:22956877 PMID:23229545 PMID:23551880 PMID:23589421 PMID:23810941 PMID:23940605 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:26383609 PMID:26759051 PMID:27135212 PMID:27512303 PMID:27629047 PMID:27915025 PMID:27935012 PMID:28492532 PMID:28619084 PMID:28660284 PMID:28893421 PMID:28904440 PMID:29110180 PMID:29127259 PMID:29456205 PMID:30341509 PMID:30488096 PMID:30541997 PMID:30655312 PMID:31078535 PMID:31589614 PMID:32556641 PMID:32792227 PMID:33691640 PMID:33721035 PMID:34031707 PMID:34840803 PMID:35149915 PMID:35695965 PMID:35812297 PMID:36185032 PMID:36409364 PMID:37139236 PMID:37144129 PMID:37464296 More...
NCBI chr 9:101,122,793...101,132,746
Ensembl chr 9:93,675,384...93,685,336
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 PMID:25741868 PMID:28492532 PMID:31685312 PMID:10484776 More...
RGD:1599318
NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
G
Hoga1
4-hydroxy-2-oxoglutarate aldolase 1
ISS ISO
OMIM:260000 | OMIM:613616 ClinVar Annotator: match by term: Primary hyperoxaluria
MouseDO ClinVar
PMID:25741868 PMID:28492532
NCBI chr 1:250,806,430...250,833,544
Ensembl chr 1:240,857,126...240,884,568
G
Mocos
molybdenum cofactor sulfurase
ISO
ClinVar Annotator: match by term: Primary hyperoxaluria
ClinVar
PMID:25741868
NCBI chr18:16,206,402...16,251,928
Ensembl chr18:15,931,654...15,977,187
G
Agxt
alanine--glyoxylate aminotransferase
ISO ISS
ClinVar Annotator: match by term: AGXT-related condition | 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 PMID:2039493 PMID:7967498 PMID:8101040 PMID:9002528 PMID:9136629 PMID:9192270 PMID:9536098 PMID:9604803 PMID:10394939 PMID:10400689 PMID:10453743 PMID:10541294 PMID:10737993 PMID:10862087 PMID:10960483 PMID:11562405 PMID:11708860 PMID:12559847 PMID:12737622 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:16199547 PMID:16208537 PMID:16850020 PMID:16912707 PMID:16931222 PMID:16971151 PMID:17110443 PMID:17460142 PMID:17495019 PMID:17576681 PMID:17696873 PMID:18282470 PMID:18448374 PMID:18782763 PMID:18810341 PMID:18985333 PMID:19155213 PMID:19479957 PMID:19571789 PMID:20016466 PMID:20133649 PMID:20208150 PMID:20301460 PMID:20544097 PMID:20549407 PMID:20564000 PMID:20573805 PMID:20713123 PMID:21176891 PMID:21705122 PMID:21850686 PMID:22018727 PMID:22529745 PMID:22685354 PMID:22781098 PMID:22821680 PMID:22844106 PMID:22923379 PMID:22956877 PMID:23229545 PMID:23430879 PMID:23439734 PMID:23551880 PMID:23589421 PMID:23810941 PMID:23861508 PMID:23940605 PMID:24012869 PMID:24033266 PMID:24055001 PMID:24205397 PMID:24385516 PMID:24718375 PMID:24934730 PMID:24988064 PMID:24990153 PMID:25013605 PMID:25296721 PMID:25363903 PMID:25620715 PMID:25629080 PMID:25644115 PMID:25741868 PMID:26149463 PMID:26252291 PMID:26383609 PMID:26759051 PMID:27135212 PMID:27512303 PMID:27568336 PMID:27629047 PMID:27644547 PMID:27659337 PMID:27915025 PMID:27935012 PMID:28492532 PMID:28553045 PMID:28619084 PMID:28660284 PMID:28893421 PMID:28904440 PMID:28906061 PMID:29110180 PMID:29127259 PMID:29244539 PMID:29456205 PMID:29590070 PMID:29959618 PMID:30076350 PMID:30341509 PMID:30488096 PMID:30541997 PMID:30655312 PMID:30787879 PMID:31078535 PMID:31215412 PMID:31589614 PMID:31715429 PMID:32556641 PMID:32569165 PMID:32608139 PMID:32792227 PMID:33408043 PMID:33691640 PMID:33721035 PMID:34031707 PMID:34082749 PMID:34805638 PMID:34837989 PMID:34840803 PMID:35149915 PMID:35592619 PMID:35661454 PMID:35678848 PMID:35695965 PMID:35812297 PMID:36185032 PMID:36259736 PMID:36409364 PMID:37139236 PMID:37144129 PMID:37464296 PMID:37874369 More...
NCBI chr 9:101,122,793...101,132,746
Ensembl chr 9:93,675,384...93,685,336
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
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
G
Capn10
calpain 10
ISO
ClinVar Annotator: match by term: Primary hyperoxaluria, type I
ClinVar
PMID:22821680
NCBI chr 9:100,943,665...100,957,910
Ensembl chr 9:93,498,478...93,510,494
G
Cops9
COP9 signalosome subunit 9
ISO
ClinVar Annotator: match by term: Primary hyperoxaluria, type I
ClinVar
PMID:22821680
NCBI chr 9:100,657,276...100,662,206
Ensembl chr 9:93,209,843...93,213,317
G
Dusp28
dual specificity phosphatase 28
ISO
ClinVar Annotator: match by term: Primary hyperoxaluria, type I
ClinVar
PMID:22821680
NCBI chr 9:100,920,249...100,921,624
G
Gpc1
glypican 1
ISO
ClinVar Annotator: match by term: Primary hyperoxaluria, type I
ClinVar
PMID:22821680
NCBI chr 9:100,843,645...100,871,458
Ensembl chr 9:93,396,234...93,424,047
G
Gpr35
G protein-coupled receptor 35
ISO
ClinVar Annotator: match by term: Primary hyperoxaluria, type I
ClinVar
PMID:22821680
NCBI chr 9:100,974,580...100,995,330
Ensembl chr 9:93,527,127...93,539,299
G
Gpt
glutamic--pyruvic transaminase
treatment
ISO
RGD
PMID:27239044
RGD:13782155
NCBI chr 7:110,295,599...110,300,134
Ensembl chr 7:108,416,642...108,419,494
G
Hdac4
histone deacetylase 4
ISO
ClinVar Annotator: match by term: Primary hyperoxaluria, type I
ClinVar
PMID:22821680
NCBI chr 9:99,950,972...100,200,994
Ensembl chr 9:92,507,611...92,750,164
G
Kif1a
kinesin family member 1A
ISO
ClinVar Annotator: match by term: Primary hyperoxaluria, type I
ClinVar
PMID:22821680
NCBI chr 9:101,010,447...101,094,891
Ensembl chr 9:93,563,045...93,647,480
G
Mab21l4
mab-21 like 4
ISO
ClinVar Annotator: match by term: Primary hyperoxaluria, type I
ClinVar
NCBI chr 9:93,690,455...93,701,267
Ensembl chr 9:93,690,999...93,700,506
G
Ndufa10
NADH:ubiquinone oxidoreductase subunit A10
ISO
ClinVar Annotator: match by term: Primary hyperoxaluria, type I
ClinVar
PMID:22821680
NCBI chr 9:100,454,498...100,490,023
Ensembl chr 9:93,007,042...93,042,560
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
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
G
Rnpepl1
arginyl aminopeptidase like 1
ISO
ClinVar Annotator: match by term: Primary hyperoxaluria, type I
ClinVar
PMID:22821680
NCBI chr 9:100,921,053...100,933,748
Ensembl chr 9:93,472,390...93,486,331
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 PMID:14635115 PMID:14987413 PMID:15327387 PMID:16199547 PMID:16306119 PMID:17510093 PMID:17576681 PMID:18560364 PMID:19296982 PMID:20301742 PMID:24033266 PMID:24116921 PMID:25410531 PMID:25525159 PMID:25629080 PMID:25644115 PMID:25741868 PMID:26484032 PMID:26542998 PMID:28492532 PMID:28553045 PMID:28569194 PMID:28893421 PMID:29068142 PMID:29319775 PMID:30488096 PMID:30889567 PMID:31078535 PMID:31215412 PMID:31685312 PMID:34805638 PMID:35149915 PMID:35678848 PMID:36185032 PMID:36260161 PMID:37139236 More...
NCBI chr 5:59,234,179...59,243,614
Ensembl chr 5:59,234,192...59,243,603
G
Hoga1
4-hydroxy-2-oxoglutarate aldolase 1
ISO
ClinVar Annotator: match by term: HOGA1-related condition | ClinVar Annotator: match by term: Primary hyperoxaluria type 3
OMIM ClinVar
PMID:2277189 PMID:3386585 PMID:9536098 PMID:16199547 PMID:17576681 PMID:20797690 PMID:21896830 PMID:21998747 PMID:22391140 PMID:22771891 PMID:22781098 PMID:22851625 PMID:24033266 PMID:24563386 PMID:25629080 PMID:25644115 PMID:25741868 PMID:25972204 PMID:26340091 PMID:26342005 PMID:27096395 PMID:27561601 PMID:27742850 PMID:28492532 PMID:28711958 PMID:29705963 PMID:30488096 PMID:30609409 PMID:31078535 PMID:31123811 PMID:31401635 PMID:31589614 PMID:31980526 PMID:33226606 PMID:33274618 PMID:33350326 PMID:33495102 PMID:33865885 PMID:34245816 PMID:34674420 PMID:34805638 PMID:34995728 PMID:35149915 PMID:35612621 PMID:36185032 PMID:36259736 PMID:37139236 PMID:37306718 PMID:37318624 More...
NCBI chr 1:250,806,430...250,833,544
Ensembl chr 1:240,857,126...240,884,568
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all