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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 Casr calcium-sensing receptor ISO ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia ClinVar NCBI chr11:64,235,251...64,304,811
Ensembl chr11:64,235,251...64,304,811
JBrowse link
G Clcnkb chloride voltage-gated channel Kb ISO RGD PMID:11102542 RGD:1300379 NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153
JBrowse link
G Slc12a1 solute carrier family 12 member 1 ISO ClinVar Annotator: match by term: Familial hypokalemia-hypomagnesemia ClinVar PMID:8640224 NCBI chr 3:112,406,140...112,482,913
Ensembl chr 3:112,406,140...112,482,899
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
CTD Direct Evidence: marker/mechanism
PMID:5069170 PMID:8528245 PMID:8812482 PMID:8865231 PMID:8900229 More... RGD:1580588 NCBI chr19:10,630,649...10,679,250
Ensembl chr19:10,631,393...10,669,091
JBrowse link
G Stk39 serine threonine kinase 39 ISS OMIM:263800 MouseDO NCBI chr 3:52,913,583...53,179,060
Ensembl chr 3:52,913,585...53,179,060
JBrowse link
G Wnk4 WNK lysine deficient protein kinase 4 ISS OMIM:263800 MouseDO NCBI chr10:86,202,552...86,219,655
Ensembl chr10:86,188,812...86,231,829
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    syndrome 9456
      Gitelman syndrome 6
Path 2
Term Annotations click to browse term
  disease 18030
    Developmental Disease 12741
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11401
        genetic disease 10993
          monogenic disease 8513
            autosomal genetic disease 7518
              autosomal recessive disease 4575
                Gitelman syndrome 6
paths to the root