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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_004936504:5,985,407...5,987,453
Ensembl chrNW_004936504:5,985,960...5,987,210 		JBrowse link
G Agt angiotensinogen ISO CTD Direct Evidence: therapeutic CTD PMID:7182184 NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261 		JBrowse link
G Akr1b1 aldo-keto reductase family 1 member B ISO RGD PMID:17409277 RGD:1626084 NCBI chrNW_004936579:1,312,175...1,328,397 JBrowse link
G Atp12a ATPase H+/K+ transporting non-gastric alpha2 subunit ISO RGD PMID:9729517 RGD:13838663 NCBI chrNW_004936720:2,363,933...2,378,426
Ensembl chrNW_004936720:2,363,933...2,378,426 		JBrowse link
G Cldn10 claudin 10 ISO ClinVar Annotator: match by term: Hypokalemia ClinVar PMID:25741868 NCBI chrNW_004936472:14,205,311...14,308,932
Ensembl chrNW_004936472:14,207,681...14,308,932 		JBrowse link
G Ins insulin ISO CTD Direct Evidence: marker/mechanism CTD PMID:496411 NCBI chrNW_004936816:1,002,137...1,003,357
Ensembl chrNW_004936816:1,002,137...1,003,357 		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_004936655:3,487,071...3,489,686
Ensembl chrNW_004936655:3,488,338...3,489,597 		JBrowse link
G Nppb natriuretic peptide B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20339970 NCBI chrNW_004936474:683,325...684,662
Ensembl chrNW_004936474:683,325...684,665 		JBrowse link
G Nr3c1 nuclear receptor subfamily 3 group C member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11932321 NCBI chrNW_004936504:10,960,069...11,056,834
Ensembl chrNW_004936504:10,959,192...11,056,856 		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_004936493:7,060,747...7,065,276
Ensembl chrNW_004936493:7,061,587...7,065,109 		JBrowse link
G Rhcg Rh family C glycoprotein ISO protein:increased expression:outer medulla of kidney RGD PMID:21753075 RGD:9850155 NCBI chrNW_004936483:15,329,147...15,353,301
Ensembl chrNW_004936483:15,328,364...15,353,404 		JBrowse link
G Sst somatostatin ISO CTD Direct Evidence: therapeutic CTD PMID:2563217 NCBI chrNW_004936578:2,464,310...2,465,673
Ensembl chrNW_004936578:2,464,212...2,465,701 		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_004936655:3,487,071...3,489,686
Ensembl chrNW_004936655:3,488,338...3,489,597 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        mineral metabolism disease 927
          hypokalemia 12
            Familial Hypokalemia + 1
Path 2
Term Annotations click to browse term
  disease 16465
    Nutritional and Metabolic Diseases 6783
      disease of metabolism 6783
        acquired metabolic disease 2142
          mineral metabolism disease 927
            hypokalemia 12
              Familial Hypokalemia + 1
paths to the root