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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;   familial hypokalemia hypomagnesemia;   primary renotubular, hypokalemia-hypomagnesemia with hypocalciuria;   tubular hypomagnesemia hypokalemia with hypocalcuria
 primary_id: MESH:D053579
 alt_id: OMIM:263800;   RDO:0000113
 xref: GARD:8547;   NCI:C84730
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 Clcnkb chloride voltage-gated channel Kb JBrowse link 5 159,950,384 159,973,576 RGD:1300379
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 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

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Path 1
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  disease 15620
    syndrome 5159
      Gitelman syndrome 4
Path 2
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  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                Gitelman syndrome 4
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