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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, Type II
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Accession:DOID:9006303 term browser browse the term
Synonyms:exact_synonym: FH II;   HALD2
 primary_id: MESH:C565312
 alt_id: OMIM:605635;   RDO:0013986
For additional species annotation, visit the Alliance of Genome Resources.


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Familial Hyperaldosteronism, Type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn2 chloride voltage-gated channel 2 ISO ClinVar Annotator: match by term: Hyperaldosteronism, familial, type II
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: FH II
ClinVar
CTD
OMIM
PMID:19191339 PMID:19861545 PMID:23542698 PMID:25741868 PMID:25907736 PMID:29403011 PMID:29403012 NCBI chr11:82,862,664...82,876,165
Ensembl chr11:83,883,879...83,897,394
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16977
    disease of anatomical entity 16343
      endocrine system disease 5761
        adrenal gland disease 213
          adrenal cortex disease 75
            adrenal gland hyperfunction 31
              primary hyperaldosteronism 25
                Familial Hyperaldosteronism, Type II 1
paths to the root