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ONTOLOGY REPORT - ANNOTATIONS


Term:primary hyperoxaluria type 3
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Accession:DOID:0111672 term browser browse the term
Definition:Primary hyperoxaluria is an autosomal recessive disorder of glyoxylate metabolism that results in excessive endogenous oxalate synthesis and the formation of calcium oxalate kidney stones. Progressive renal inflammation and interstitial fibrosis from advanced nephrocalcinosis, recurrent urolithiasis, and urinary tract infections can cause reduced renal function, systemic oxalate deposition, and end-stage renal failure. Compared to hyperoxaluria type I (HP1) and type II (HP2), HP3 appears to be the least severe, with good preservation of kidney function in most patients. The typical clinical characteristic is early onset of recurrent urolithiasis, but less active stone formation later. HP3 is caused by homozygous or compound heterozygous mutation in the DHDPSL gene on chromosome 10q24. (OMIM)
Synonyms:exact_synonym: HP3;   PH III;   primary hyperoxaluria type III
 primary_id: OMIM:613616
 xref: GARD:10738;   NCI:C123214;   ORDO:93600
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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

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  disease 16021
    syndrome 6144
      trichothiodystrophy 9
        photosensitive trichothiodystrophy 5
          primary hyperoxaluria type 3 1
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  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        sensory system disease 4979
          skin disease 2654
            Skin Abnormalities 613
              trichothiodystrophy 9
                photosensitive trichothiodystrophy 5
                  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.