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RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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.

show annotations for term's descendants           Sort by:
Gitelman syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO RGD PMID:11102542 RGD:1300379 NCBI chr 5:159,950,384...159,973,576
Ensembl chr 5:159,950,392...159,962,676
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO DNA:snp:intron:IVS9+1G>T (human)
ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia
ClinVar Annotator: match by OMIM:263800
CTD Direct Evidence: marker/mechanism
PMID:8528245, PMID:8812482, PMID:8865231, PMID:8900229, PMID:8954067, PMID:9596079, PMID:9734597, PMID:10561751, PMID:10616841, PMID:10988270, PMID:11168953, PMID:11408395, PMID:11532083, PMID:11940055, PMID:12008755, PMID:12039972, PMID:12112667, PMID:12185467, PMID:12911530, PMID:14655226, PMID:14675033, PMID:14766743, PMID:15069170, PMID:15102966, PMID:15198479, PMID:15309683, PMID:15687331, PMID:15824853, PMID:15976513, PMID:16471174, PMID:16966826, PMID:17000984, PMID:17044667, PMID:17159356, PMID:17329572, PMID:17414160, PMID:17460608, PMID:17654016, PMID:17699451, PMID:17873326, PMID:17885550, PMID:18270262, PMID:18287808, PMID:18344243, PMID:18362449, PMID:18391953, PMID:18580052, PMID:19016647, PMID:19033254, PMID:19207868, PMID:19349556, PMID:19420906, PMID:19451210, PMID:19489442, PMID:19668106, PMID:20072789, PMID:20675610, PMID:20810575, PMID:20848653, PMID:20981092, PMID:21051746, PMID:21256383, PMID:21415153, PMID:21628937, PMID:21631963, PMID:21654754, PMID:21753071, PMID:21757836, PMID:22009145, PMID:22169961, PMID:22214629, PMID:22241817, PMID:22245519, PMID:22484642, PMID:22627394, PMID:22802996, PMID:22934535, PMID:22990302, PMID:23328711, PMID:23475471, PMID:23698802, PMID:23756661, PMID:23833262, PMID:24033266, PMID:24088041, PMID:24759409, PMID:24776766, PMID:24790334, PMID:25112827, PMID:25140267, PMID:25165177, PMID:25422309, PMID:25741868, PMID:25815233, PMID:25841442, PMID:25852896, PMID:25990047, PMID:26041598, PMID:26121437, PMID:26221292, PMID:26467025, PMID:26633545, PMID:26770037, PMID:26830254, PMID:26921350, PMID:26990548, PMID:27173320, PMID:27453715, PMID:27454426, PMID:27582097, PMID:27872838, PMID:28325561, PMID:28469853, PMID:28492532, PMID:28947054, PMID:29925901, PMID:29942493, PMID:30136149, PMID:30413979, PMID:30596175, PMID:31398183, PMID:32860008, PMID:16221718 RGD:1580588 NCBI chr19:11,106,033...11,144,674
Ensembl chr19:11,106,033...11,144,641
JBrowse link
G Stk39 serine threonine kinase 39 ISS OMIM:263800 MouseDO NCBI chr 3:54,359,449...54,625,702
Ensembl chr 3:54,359,451...54,625,414
JBrowse link
G Wnk4 WNK lysine deficient protein kinase 4 ISS OMIM:263800 MouseDO NCBI chr10:89,181,139...89,198,213
Ensembl chr10:89,181,165...89,198,213
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Gitelman syndrome 4
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                Gitelman syndrome 4
paths to the root


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