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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 III
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Accession:DOID:9000644 term browser browse the term
Synonyms:exact_synonym: FH III;   FH3;   HALD3;   familial hyperaldosteronism type 3
 primary_id: OMIM:613677
 xref: GARD:12362;   MONDO:0013359;   ORDO:251274


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Familial Hyperaldosteronism, Type III 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 type 3 | ClinVar Annotator: match by term: Familial hyperaldosteronism type III OMIM
ClinVar		 PMID:20560207 PMID:21311022 PMID:22203740 PMID:22252394 PMID:22308486 More... NCBI chr 9:55,836,777...55,861,288
Ensembl chr 9:55,836,701...55,864,941 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      endocrine system disease 5955
        adrenal gland disease 266
          adrenal cortex disease 91
            adrenal gland hyperfunction 30
              primary hyperaldosteronism 24
                Familial Hyperaldosteronism, Type III 1
paths to the root