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ONTOLOGY REPORT - ANNOTATIONS


Term:Gitelman syndrome
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Accession:DOID:0050450 term browser browse the term
Definition:An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Synonyms:exact_synonym: GTLMNS;   Gitelman's Syndrome;   Potassium and Magnesium Depletion;   Primary Renotubular, Hypokalemia-Hypomagnesemia with Hypocalciuria;   familial hypokalemia hypomagnesemia;   tubular hypomagnesemia hypokalemia with hypocalcuria
 primary_id: MESH:D053579
 alt_id: OMIM:263800;   RDO:0000113
 xref: GARD:8547
For additional species annotation, visit the Alliance of Genome Resources.


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Gitelman syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cav3 caveolin 3 JBrowse link 4 144,382,945 144,398,919 RGD:8554872
G Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:1300379
G Dhh desert hedgehog signaling molecule JBrowse link 7 140,575,288 140,580,783 RGD:8554872
G Opa1 OPA1, mitochondrial dynamin like GTPase JBrowse link 11 74,717,600 74,793,902 RGD:8554872
G Slc12a3 solute carrier family 12 member 3 JBrowse link 19 11,106,033 11,144,674 RGD:1580588
RGD:8554872
RGD:11554173
RGD:7240710
G Son Son DNA binding protein JBrowse link 11 31,806,598 31,837,769 RGD:8554872
G Stk39 serine threonine kinase 39 JBrowse link 3 54,359,449 54,625,702 RGD:13592920
G Wnk4 WNK lysine deficient protein kinase 4 JBrowse link 10 89,181,139 89,198,213 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Gitelman syndrome 8
Path 2
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  disease 14759
    disease of anatomical entity 13978
      Urogenital Diseases 3755
        urinary system disease 1990
          kidney disease 1786
            renal tubular transport disease 93
              Gitelman syndrome 8
paths to the root