ONTOLOGY REPORT - ANNOTATIONS


Term:primary hyperoxaluria
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Accession:DOID:2977 term browser browse the term
Definition:A genetic disorder characterized by excretion of large amounts of OXALATES in urine; NEPHROLITHIASIS; NEPHROCALCINOSIS; early onset of RENAL FAILURE; and often a generalized deposit of CALCIUM OXALATE. There are subtypes classified by the enzyme defects in glyoxylate metabolism.
Synonyms:exact_synonym: Primary Hyperoxalurias;   Primary Oxaloses;   Primary Oxalosis;   Primary Oxaluria;   Primary Oxalurias
 primary_id: MESH:D006960
 alt_id: RDO:0002001
 xref: OMIM:PS259900
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primary hyperoxaluria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase JBrowse link 9 100,281,339 100,291,292 RGD:8554872
G Grhpr glyoxylate and hydroxypyruvate reductase JBrowse link 5 60,528,981 60,538,410 RGD:1599318
RGD:13592920
RGD:8554872
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 JBrowse link 1 261,291,742 261,319,743 RGD:8554872
RGD:13592920
Primary Hyperoxaluria Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agxt alanine--glyoxylate and serine--pyruvate aminotransferase JBrowse link 9 100,281,339 100,291,292 RGD:7240710
RGD:8554872
G Ankmy1 ankyrin repeat and MYND domain containing 1 JBrowse link 9 100,026,435 100,074,274 RGD:8554872
G Aqp12a aquaporin 12A JBrowse link 9 100,156,154 100,166,218 RGD:8554872
G Capn10 calpain 10 JBrowse link 9 100,104,000 100,112,833 RGD:8554872
G Cops9 COP9 signalosome subunit 9 JBrowse link 9 99,813,332 99,818,262 RGD:8554872
G Dusp28 dual specificity phosphatase 28 JBrowse link 9 100,072,421 100,078,487 RGD:8554872
G Gpc1 glypican 1 JBrowse link 9 99,998,275 100,026,818 RGD:8554872
G Gpr35 G protein-coupled receptor 35 JBrowse link 9 100,129,428 100,141,269 RGD:8554872
G Gpt glutamic--pyruvic transaminase JBrowse link 7 117,759,083 117,761,932 RGD:13782155
G Hdac4 histone deacetylase 4 JBrowse link 9 99,052,945 99,299,715 RGD:8554872
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:8554872
G Ndufa10 NADH:ubiquinone oxidoreductase subunit A10 JBrowse link 9 99,617,051 99,651,827 RGD:8554872
G Olr1343 olfactory receptor 1343 JBrowse link 9 99,656,296 99,659,425 RGD:8554872
G Otos otospiralin JBrowse link 9 99,819,578 99,824,218 RGD:8554872
G Prr21 proline rich 21 JBrowse link 4 61,220,386 61,222,956 RGD:8554872
G Rnpepl1 arginyl aminopeptidase like 1 JBrowse link 9 100,080,144 100,089,834 RGD:8554872
Primary Hyperoxaluria Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grhpr glyoxylate and hydroxypyruvate reductase JBrowse link 5 60,528,981 60,538,410 RGD:7240710
RGD:8554872
Primary Hyperoxaluria Type 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoga1 4-hydroxy-2-oxoglutarate aldolase 1 JBrowse link 1 261,291,742 261,319,743 RGD:7240710
RGD:8554872

Term paths to the root
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  disease 14926
    Nutritional and Metabolic Diseases 4266
      disease of metabolism 4266
        inherited metabolic disorder 1825
          carbohydrate metabolic disorder 304
            primary hyperoxaluria 18
              Primary Hyperoxaluria Type 1 16
              Primary Hyperoxaluria Type 2 1
              Primary Hyperoxaluria Type 3 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          inherited metabolic disorder 1825
            carbohydrate metabolic disorder 304
              primary hyperoxaluria 18
                Primary Hyperoxaluria Type 1 16
                Primary Hyperoxaluria Type 2 1
                Primary Hyperoxaluria Type 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.