Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
Accession:DOID:9000644 term browser browse the term
Synonyms:exact_synonym: FH III;   HALD3
 primary_id: OMIM:613677
 alt_id: RDO:9000456
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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 OMIM:613677
ClinVar Annotator: match by term: HYPERALDOSTERONISM, FAMILIAL, TYPE III
ClinVar Annotator: match by term: FH III
OMIM
ClinVar
PMID:20560207 PMID:21311022 PMID:22203740 PMID:22252394 PMID:22308486 PMID:22628607 PMID:23829355 PMID:24037882 PMID:24420545 PMID:24574546 PMID:24819081 PMID:25057880 PMID:25741868 PMID:28492532 NCBI chr 8:33,435,493...33,463,410
Ensembl chr 8:33,433,905...33,463,467
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16937
    disease of anatomical entity 16303
      endocrine system disease 5720
        adrenal gland disease 213
          adrenal cortex disease 75
            adrenal gland hyperfunction 31
              primary hyperaldosteronism 25
                Familial Hyperaldosteronism, Type III 1
paths to the root