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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 IV
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Accession:DOID:9003950 term browser browse the term
Synonyms:exact_synonym: ALDOSTERONISM, PRIMARY, AND HYPERTENSION;   FH IV;   HALD4
 broad_synonym: CACNA1H-RELATED DISORDER
 primary_id: OMIM:617027
 alt_id: RDO:9001596
For additional species annotation, visit the Alliance of Genome Resources.


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Familial Hyperaldosteronism, Type IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cacna1h calcium voltage-gated channel subunit alpha1 H ISO ClinVar Annotator: match by term: Hyperaldosteronism, familial, type IV
ClinVar Annotator: match by term: ALDOSTERONISM, PRIMARY, AND HYPERTENSION
ClinVar
OMIM
PMID:15048902 PMID:15852375 PMID:17696120 PMID:25741868 PMID:25907736 PMID:26467025 PMID:28492532 NCBI chr10:14,730,932...14,789,201
Ensembl chr10:14,730,941...14,788,617
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      endocrine system disease 5717
        adrenal gland disease 213
          adrenal cortex disease 75
            adrenal gland hyperfunction 31
              primary hyperaldosteronism 25
                Familial Hyperaldosteronism, Type IV 1
paths to the root