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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:primary hyperoxaluria
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Accession:DOID:2977 term browser browse the term
Definition:A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones. (DO)
Synonyms:exact_synonym: primary hyperoxalurias;   primary oxaloses;   primary oxalosis;   primary oxaluria;   primary oxalurias
 primary_id: MESH:D006960
 xref: ICD10CM:E72.53;   ICD10CM:R82.992;   NCI:C123158;   OMIM:PS259900;   ORDO:416
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
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 More... NCBI chr 9:93,675,384...93,685,337
Ensembl chr 9:93,675,384...93,685,336
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:28492532 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 chr18:15,931,654...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 and serine--pyruvate aminotransferase ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I OMIM
ClinVar
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 9:93,472,492...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 9:93,526,691...93,539,302
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 Olr1343 olfactory receptor 1343 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 Prr21 proline rich 21 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680
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 Grhpr glyoxylate and hydroxypyruvate reductase ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type II OMIM
ClinVar
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:9536098 PMID:16199547 PMID:17576681 PMID:20797690 PMID:21896830 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 18032
    Nutritional and Metabolic Diseases 6730
      disease of metabolism 6730
        inherited metabolic disorder 4645
          carbohydrate metabolic disorder 2559
            primary hyperoxaluria 19
              primary hyperoxaluria type 1 16
              primary hyperoxaluria type 2 1
              primary hyperoxaluria type 3 1
Path 2
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11402
        genetic disease 10994
          inherited metabolic disorder 4645
            carbohydrate metabolic disorder 2559
              primary hyperoxaluria 19
                primary hyperoxaluria type 1 16
                primary hyperoxaluria type 2 1
                primary hyperoxaluria type 3 1
paths to the root