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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;   RDO:0005861
 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 chr 5:144,259,756...144,398,421
Ensembl chr 5:150,267,554...150,315,892
JBrowse link
G AGT angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:7182184 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044
JBrowse link
G AKR1B1 aldo-keto reductase family 1 member B ISO RGD PMID:17409277 RGD:1626084 NCBI chr 7:126,400,861...126,417,756
Ensembl chr 7:138,912,953...138,924,095
JBrowse link
G ATP12A ATPase H+/K+ transporting non-gastric alpha2 subunit ISO RGD PMID:9729517 RGD:13838663 NCBI chr13:5,972,372...6,004,411
Ensembl chr13:24,268,003...24,294,136
JBrowse link
G CLDN10 claudin 10 ISO ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:25741868 NCBI chr13:76,728,572...76,755,685
Ensembl chr13:95,763,980...95,909,161
JBrowse link
G INS insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:496411 NCBI chr11:2,200,785...2,202,579
Ensembl chr11:2,218,117...2,231,666
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 chr17:64,005,085...64,065,153
Ensembl chr17:69,411,032...69,447,343
JBrowse link
G NPPB natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20339970 NCBI chr 1:10,621,416...10,622,960
Ensembl chr 1:11,838,518...11,839,995
JBrowse link
G NR3C1 nuclear receptor subfamily 3 group C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11932321 NCBI chr 5:138,634,278...139,089,171
Ensembl chr 5:144,741,452...144,865,269
JBrowse link
G POMC proopiomelanocortin ISO CTD Direct Evidence: marker/mechanism CTD PMID:323586 PMID:1327015 PMID:4323972 PMID:6254450 PMID:6258369 More... NCBI chr2A:25,161,668...25,165,600
Ensembl chr2A:25,258,768...25,262,706
JBrowse link
G RHCG Rh family C glycoprotein ISO protein:increased expression:outer medulla of kidney RGD PMID:21753075 RGD:9850155 NCBI chr15:68,165,708...68,190,964
Ensembl chr15:87,372,238...87,397,011
JBrowse link
G SST somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:2563217 NCBI chr 3:184,695,561...184,697,091
Ensembl chr 3:193,155,363...193,158,337
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 chr17:64,005,085...64,065,153
Ensembl chr17:69,411,032...69,447,343
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14596
    Nutritional and Metabolic Diseases 5560
      disease of metabolism 5560
        mineral metabolism disease 694
          hypokalemia 12
            Familial Hypokalemia + 1
Path 2
Term Annotations click to browse term
  disease 14596
    Nutritional and Metabolic Diseases 5560
      disease of metabolism 5560
        acquired metabolic disease 1833
          mineral metabolism disease 694
            hypokalemia 12
              Familial Hypokalemia + 1
paths to the root