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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:Familial Hypokalemia
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Accession:DOID:9006656 term browser browse the term
Synonyms:exact_synonym: Gullner Syndrome;   familial hypokalemic alkalosis with specific renal tubulopathy
 primary_id: MESH:C562654
 alt_id: OMIM:241150
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar
OMIM
PMID:33811157 NCBI chr10:95,990,009...96,021,356
Ensembl chr10:95,960,725...96,021,702
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        inherited metabolic disorder 2663
          Familial Hypokalemia 1
            Hypokalemic Tubulopathy and Deafness 1
Path 2
Term Annotations click to browse term
  disease 17445
    Nutritional and Metabolic Diseases 5595
      disease of metabolism 5595
        acquired metabolic disease 2908
          mineral metabolism disease 571
            hypokalemia 14
              Familial Hypokalemia 1
                Hypokalemic Tubulopathy and Deafness 1
paths to the root