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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;   MIM:PS259900;   NCI:C123158;   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 aminotransferase ISO ClinVar Annotator: match by term: Primary hyperoxaluria ClinVar PMID:1301173 PMID:1349575 PMID:1703535 PMID:1961759 PMID:2039493 More... NCBI chr 9:101,122,793...101,132,746
Ensembl chr 9:101,122,793...101,132,745 		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 5:64,029,856...64,039,287
Ensembl chr 5:64,022,368...64,039,276 		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:25741868 PMID:28492532 NCBI chr 1:250,806,430...250,833,544
Ensembl chr 1:250,806,255...250,833,869 		JBrowse link
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 chr18:16,206,402...16,251,928 		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 		CTD Direct Evidence: marker/mechanism
OMIM:259900
ClinVar Annotator: match by term: AGXT-related condition | ClinVar Annotator: match by term: Alanine glyoxylate aminotransferase deficiency | ClinVar Annotator: match by term: Primary hyperoxaluria, type I 		OMIM
CTD
MouseDO
ClinVar		 PMID:1301173 PMID:1349575 PMID:1703535 PMID:1879825 PMID:1961759 More... NCBI chr 9:101,122,793...101,132,746
Ensembl chr 9:101,122,793...101,132,745 		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 9:100,869,899...100,924,030
Ensembl chr 9:100,871,373...100,924,229 		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 9:101,001,939...101,007,425 		JBrowse link
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 9:100,945,551...100,957,912 		JBrowse link
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 9:100,657,276...100,662,206 		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
Ensembl chr 9:100,920,249...100,921,624 		JBrowse link
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 9:100,843,645...100,879,933 		JBrowse link
G Gpr35 G protein-coupled receptor 35 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:100,974,580...100,995,330
Ensembl chr 9:100,962,538...100,986,985 		JBrowse link
G Gpt glutamic--pyruvic transaminase treatment ISO RGD PMID:27239044 RGD:13782155 NCBI chr 7:110,295,599...110,300,134
Ensembl chr 7:110,296,206...110,300,160 		JBrowse link
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 9:101,010,447...101,094,777 		JBrowse link
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 9:101,138,408...101,147,915 		JBrowse link
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:100,454,498...100,490,023
Ensembl chr 9:100,437,379...100,489,264 		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 9:100,495,938...100,496,876
Ensembl chr 9:100,495,938...100,496,876 		JBrowse link
G Otos otospiralin ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:100,664,378...100,667,882
Ensembl chr 9:100,664,380...100,665,898 		JBrowse link
G Rnpepl1 arginyl aminopeptidase like 1 ISO ClinVar Annotator: match by term: Primary hyperoxaluria, type I ClinVar PMID:22821680 NCBI chr 9:100,921,053...100,933,748
Ensembl chr 9:100,923,856...100,933,485 		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
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 5:64,029,856...64,039,287
Ensembl chr 5:64,022,368...64,039,276 		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: HOGA1-related condition | ClinVar Annotator: match by term: Primary hyperoxaluria type 3 OMIM
ClinVar		 PMID:2277189 PMID:3386585 PMID:9536098 PMID:16199547 PMID:17576681 More... NCBI chr 1:250,806,430...250,833,544
Ensembl chr 1:250,806,255...250,833,869 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          carbohydrate metabolic disorder 3440
            primary hyperoxaluria 18
              primary hyperoxaluria type 1 15
              primary hyperoxaluria type 2 1
              primary hyperoxaluria type 3 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          inherited metabolic disorder 6673
            carbohydrate metabolic disorder 3440
              primary hyperoxaluria 18
                primary hyperoxaluria type 1 15
                primary hyperoxaluria type 2 1
                primary hyperoxaluria type 3 1
paths to the root