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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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:hypokalemia
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Accession:DOID:4500 term browser browse the term
Definition:Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)
Synonyms:exact_synonym: hypokalemias;   hypopotassemia;   hypopotassemias;   potassium deficiency disorder
 primary_id: MESH:D007008
 xref: NCI:C34939
For additional species annotation, visit the Alliance of Genome Resources.


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hypokalemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1848636 PMID:2826064 PMID:17292646 NCBI chrNW_004955415:5,515,157...5,517,198
Ensembl chrNW_004955415:5,515,697...5,516,980
JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:7182184 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357
JBrowse link
G Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit ISO RGD PMID:9729517 RGD:13838663 NCBI chrNW_004955497:225,401...251,024
Ensembl chrNW_004955497:225,158...252,789
JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:25741868 NCBI chrNW_004955404:14,483,217...14,597,912
Ensembl chrNW_004955404:14,483,217...14,597,938
JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:496411 NCBI chrNW_004955422:13,909,408...13,910,419
Ensembl chrNW_004955422:13,909,407...13,910,419
JBrowse link
G Kcnj16 potassium inwardly rectifying channel subfamily J member 16 ISO protein:decreased expression:cortical collecting duct, distal convoluted tubule (rat) RGD PMID:28931751 RGD:38500204 NCBI chrNW_004955478:2,775,702...2,833,821
Ensembl chrNW_004955478:2,775,702...2,802,501
JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20339970 NCBI chrNW_004955486:2,054,775...2,056,130 JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11932321 NCBI chrNW_004955415:10,494,704...10,585,778
Ensembl chrNW_004955415:10,494,640...10,586,221
JBrowse link
G Pomc proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:323586 PMID:1327015 PMID:4323972 PMID:6254450 PMID:6258369 More... NCBI chrNW_004955469:7,217,233...7,220,401
Ensembl chrNW_004955469:7,217,363...7,220,386
JBrowse link
G Rhcg Rh family C glycoprotein ISO protein:increased expression:outer medulla of kidney RGD PMID:21753075 RGD:9850155 NCBI chrNW_004955416:15,639,425...15,657,708
Ensembl chrNW_004955416:15,639,551...15,654,293
JBrowse link
G Slc12a3 solute carrier family 12 member 3 ISO ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:8528245 PMID:9734597 PMID:10988270 PMID:12039972 PMID:17329572 More... NCBI chrNW_004955433:14,553,752...14,588,317
Ensembl chrNW_004955433:14,553,758...14,587,602
JBrowse link
Hypokalemic Tubulopathy and Deafness term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj16 potassium inwardly rectifying channel subfamily J member 16 ISO ClinVar Annotator: match by term: Hypokalemic tubulopathy and deafness OMIM
ClinVar
PMID:33811157 NCBI chrNW_004955478:2,775,702...2,833,821
Ensembl chrNW_004955478:2,775,702...2,802,501
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14337
    Nutritional and Metabolic Diseases 6990
      disease of metabolism 6990
        mineral metabolism disease 896
          hypokalemia 11
            Familial Hypokalemia + 1
Path 2
Term Annotations click to browse term
  disease 14337
    Nutritional and Metabolic Diseases 6990
      disease of metabolism 6990
        acquired metabolic disease 2122
          mineral metabolism disease 896
            hypokalemia 11
              Familial Hypokalemia + 1
paths to the root