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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:glucocorticoid-remediable aldosteronism
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Accession:DOID:14080 term browser browse the term
Synonyms:exact_synonym: ACTH-Dependent Hyperaldosteronism Syndrome;   Aldosteronism, Sensitive to Dexamethasone;   FH I;   GRA;   GSH;   Glucocorticoid-Suppressible Hyperaldosteronism;   HALD1;   Hyperaldosteronism, Familial, Type I
 primary_id: MESH:C563177;   RDO:0012546
 alt_id: OMIM:103900
 xref: GARD:2790;   ICD10CM:E26.02;   ICD9CM:255.11;   NCI:C123248
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
glucocorticoid-remediable aldosteronism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp11b2 cytochrome P450, family 11, subfamily b, polypeptide 2 ISO ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism
OMIM
ClinVar
CTD
PMID:1472060 PMID:1731223 PMID:2022736 PMID:7049883 PMID:8506298 PMID:8768848 PMID:8964882 PMID:8989319 PMID:9435454 PMID:9546661 PMID:11549691 PMID:12452430 PMID:12966519 PMID:15026188 PMID:15062555 PMID:15751602 PMID:16030166 PMID:16984984 PMID:17371482 PMID:17692261 PMID:19820005 PMID:20024693 PMID:20089618 PMID:22465514 PMID:22964742 PMID:23345044 PMID:24022297 PMID:24033266 PMID:24536089 PMID:25741868 PMID:26300845 PMID:26467025 PMID:26956189 PMID:27376426 PMID:27376433 PMID:27821898 PMID:28228528 PMID:28492532 NCBI chr 7:116,248,759...116,255,205
Ensembl chr 7:116,156,219...116,255,167
JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism
ClinVar
CTD
PMID:1472060 PMID:1594605 PMID:1731223 PMID:8530633 PMID:8954040 PMID:9703385 PMID:9814506 PMID:10965212 PMID:11174838 PMID:11549691 PMID:16118341 PMID:18710464 PMID:22465514 PMID:22931312 PMID:24033266 PMID:25102047 PMID:28492532 NCBI chr 7:116,155,928...116,161,781
Ensembl chr 7:116,156,219...116,255,167
JBrowse link

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
                glucocorticoid-remediable aldosteronism 2
paths to the root