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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


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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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        inherited metabolic disorder 6257
          Familial Hypokalemia 1
            Hypokalemic Tubulopathy and Deafness 1
Path 2
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8247
      disease of metabolism 8247
        acquired metabolic disease 2480
          mineral metabolism disease 918
            hypokalemia 15
              Familial Hypokalemia 1
                Hypokalemic Tubulopathy and Deafness 1
paths to the root