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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 Hyperaldosteronism
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Accession:DOID:9004228 term browser browse the term
Synonyms:primary_id: MESH:C580087


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Familial Hyperaldosteronism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnj5 potassium inwardly-rectifying channel, subfamily J, member 5 ISO ClinVar Annotator: match by term: Familial hyperaldosteronism ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:30,724,923...30,753,083
Ensembl chr 8:30,724,925...30,753,518 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      endocrine system disease 6775
        adrenal gland disease 281
          adrenal cortex disease 98
            adrenal gland hyperfunction 34
              primary hyperaldosteronism 28
                Familial Hyperaldosteronism 1
paths to the root