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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
Definition:A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3. (DO)
Synonyms:exact_synonym: ACTH-dependent hyperaldosteronism syndrome;   FH I;   GRA;   GRS;   GSH;   HALD1;   aldosteronism sensitive to dexamethasone;   familial hyperaldosteronism type I;   glucocorticoid-suppressible hyperaldosteronism
 primary_id: MESH:C563177
 alt_id: OMIM:103900
 xref: GARD:2790;   ICD10CM:E26.02;   ICD9CM:255.11;   NCI:C123248;   NCI:C127161
For additional species annotation, visit the Alliance of Genome Resources.


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE | ClinVar Annotator: match by term: GLUCOCORTICOID-SUPPRESSIBLE HYPERALDOSTERONISM | ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I
ClinVar Annotator: match by term: ALDOSTERONISM, SENSITIVE TO DEXAMETHASONE | ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism | ClinVar Annotator: match by term: Hyperaldosteronism, familial, type I		 OMIM
CTD
ClinVar		 PMID:1472060 PMID:1731223 PMID:2022736 PMID:7049883 PMID:7903314 More... NCBI chr 7:106,838,590...106,845,004
Ensembl chr 7:106,838,590...106,845,004 		JBrowse link
G Cyp11b3 cytochrome P450, family 11, subfamily b, polypeptide 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism		 CTD
ClinVar		 PMID:1472060 PMID:1594605 PMID:1731223 PMID:8530633 PMID:8954040 More... NCBI chr 7:106,808,559...106,814,048
Ensembl chr 7:106,808,559...106,814,048 		JBrowse link
G Hbb-b1 hemoglobin, beta adult major chain ISO ClinVar Annotator: match by term: Glucocorticoid-remediable aldosteronism ClinVar PMID:1398286 PMID:1742490 PMID:3401592 PMID:12402333 PMID:16434382 More... NCBI chr 1:158,224,175...158,231,675
Ensembl chr 1:158,120,200...158,252,012 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      endocrine system disease 6775
        adrenal gland disease 281
          adrenal cortex disease 98
            adrenal gland hyperfunction 34
              primary hyperaldosteronism 28
                glucocorticoid-remediable aldosteronism 3
paths to the root