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ONTOLOGY REPORT - ANNOTATIONS


Term:nephrocalcinosis
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Accession:DOID:12679 term browser browse the term
Definition:A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.
Synonyms:exact_synonym: Nephrocalcinoses;   kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules
 primary_id: MESH:D009397
 alt_id: MESH:C531755;   RDO:0000168;   RDO:0000169
 xref: GARD:7177;   NCI:C84918
For additional species annotation, visit the Alliance of Genome Resources.


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nephrocalcinosis 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 Atp6v1b1 ATPase H+ transporting V1 subunit B1 JBrowse link 4 115,417,100 115,435,754 RGD:8554872
G Cldn16 claudin 16 JBrowse link 11 77,683,942 77,703,232 RGD:8554872
G Cldn19 claudin 19 JBrowse link 5 138,300,692 138,307,982 RGD:8554872
G Grhpr glyoxylate and hydroxypyruvate reductase JBrowse link 5 60,528,981 60,538,410 RGD:8554872
G Phex phosphate regulating endopeptidase homolog, X-linked JBrowse link X 40,460,047 40,717,982 RGD:11554173
G Pomc proopiomelanocortin JBrowse link 6 28,382,937 28,388,771 RGD:11554173
G Pth parathyroid hormone JBrowse link 1 178,215,829 178,218,761 RGD:7242573
G Slc12a1 solute carrier family 12 member 1 JBrowse link 3 117,421,531 117,498,372 RGD:8554872
G Slc26a1 solute carrier family 26 member 1 JBrowse link 14 2,050,805 2,056,091 RGD:11554173
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:7242938
RGD:8554872
G Slc3a1 solute carrier family 3 member 1 JBrowse link 6 8,284,937 8,318,649 RGD:8554872
amelogenesis imperfecta type 1G term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase JBrowse link 10 97,962,467 98,017,171 RGD:7240710
RGD:8554872
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha JBrowse link 10 97,940,705 97,959,199 RGD:8554872
Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcn5 chloride voltage-gated channel 5 JBrowse link X 16,170,585 16,196,691 RGD:7240710
RGD:8554872
MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ammecr1 AMMECR nuclear protein 1 JBrowse link X 114,129,829 114,233,013 RGD:8554872
RGD:7240710
G Rtl9 retrotransposon Gag like 9 JBrowse link X 114,367,028 114,379,646 RGD:8554872
G Tmem164 transmembrane protein 164 JBrowse link X 113,947,355 114,110,064 RGD:8554872
SHORT syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3r1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 2 31,742,326 31,826,882 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15502
    disease of anatomical entity 14856
      Urogenital Diseases 3988
        urinary system disease 2021
          kidney disease 1808
            nephrocalcinosis 19
              Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 0
              Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 1
              MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 3
              Manz Syndrome 0
              SHORT syndrome 1
              amelogenesis imperfecta type 1G 2
Path 2
Term Annotations click to browse term
  disease 15502
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        acquired metabolic disease 2698
          mineral metabolism disease 415
            calcium metabolism disease 265
              calcinosis 236
                nephrocalcinosis 19
                  Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 0
                  Low Molecular Weight Proteinuria with Hypercalciuria and Nephrocalcinosis 1
                  MIDFACE HYPOPLASIA, HEARING IMPAIRMENT, ELLIPTOCYTOSIS, AND NEPHROCALCINOSIS 3
                  Manz Syndrome 0
                  SHORT syndrome 1
                  amelogenesis imperfecta type 1G 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.