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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


show annotations for term's descendants           Sort by:
Familial Hyperaldosteronism, Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLCN2 chloride voltage-gated channel 2 susceptibility ISO ClinVar Annotator: match by term: FH II | ClinVar Annotator: match by term: Familial hyperaldosteronism type II ClinVar
OMIM		 PMID:1521363 PMID:17762171 PMID:19191339 PMID:19861545 PMID:21703448 More... NCBI chr 3:181,383,608...181,399,200
Ensembl chr 3:189,862,489...189,881,049 		JBrowse link
G SATB1 SATB homeobox 1 ISO ClinVar Annotator: match by term: Familial hyperaldosteronism type II ClinVar PMID:29403011 NCBI chr 3:18,267,819...18,368,924
Ensembl chr 3:18,602,204...18,681,211 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      endocrine system disease 5965
        adrenal gland disease 277
          adrenal cortex disease 94
            adrenal gland hyperfunction 33
              primary hyperaldosteronism 27
                Familial Hyperaldosteronism, Type II 2
paths to the root