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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:Hyperkalemia
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Accession:DOID:9001961 term browser browse the term
Definition:Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed)
Synonyms:exact_synonym: Hyperkalemias;   Hyperpotassemia;   Hyperpotassemias
 primary_id: MESH:D006947


show annotations for term's descendants           Sort by:
Hyperkalemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn5 chloride voltage-gated channel 5 ISO ClinVar Annotator: match by term: Hyperkalemia ClinVar PMID:25741868 NCBI chr  X:15,185,380...15,339,977
Ensembl chr  X:15,185,451...15,334,264 		JBrowse link
G Cyp17a1 cytochrome P450, family 17, subfamily a, polypeptide 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18645707 NCBI chr 1:245,535,462...245,543,148
Ensembl chr 1:245,535,462...245,541,573 		JBrowse link
G Ins2 insulin 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:8606734 PMID:20466255 NCBI chr 1:197,843,277...197,992,522
Ensembl chr 1:197,843,281...197,864,775 		JBrowse link
dehydrated hereditary stomatocytosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn4 potassium calcium-activated channel subfamily N member 4 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema ClinVar PMID:25741868 NCBI chr 1:79,956,380...79,974,354
Ensembl chr 1:79,959,322...79,974,340 		JBrowse link
G Piezo1 piezo-type mechanosensitive ion channel component 1 ISO ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema | ClinVar Annotator: match by term: Dehydrated hereditary stomatocytosis pseudohyperkalemia and perinatal edema | ClinVar Annotator: match by term: PSEUDOHYPERKALEMIA EDINBURGH
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:89283 PMID:5559828 PMID:9827909 PMID:16898969 PMID:17253968 More... NCBI chr19:50,544,580...50,606,812
Ensembl chr19:50,544,582...50,606,501 		JBrowse link
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb6 ATP binding cassette subfamily B member 6 ISO ClinVar Annotator: match by term: CRYOHYDROCYTOSIS, MILD | ClinVar Annotator: match by term: Pseudohyperkalemia, familial, 2, due to red cell leak
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2766660 PMID:2998465 PMID:6123793 PMID:11918557 PMID:15142123 More... NCBI chr 9:76,668,554...76,677,263
Ensembl chr 9:76,668,554...76,676,924 		JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cryohydrocytosis | ClinVar Annotator: match by term: Stomatocytosis, cold-sensitive		 CTD
ClinVar		 PMID:1378323 PMID:1722314 PMID:1737855 PMID:2146504 PMID:6338046 More... NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    Nutritional and Metabolic Diseases 8513
      disease of metabolism 8513
        Water-Electrolyte Imbalance 105
          Hyperkalemia 7
            Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 2
            dehydrated hereditary stomatocytosis 1 2
paths to the root