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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:ACTH-independent macronodular adrenal hyperplasia
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Accession:DOID:0111622 term browser browse the term
Definition:A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. (DO)
Synonyms:exact_synonym: Cushing syndrome due to macronodular adrenal hyperplasia;   MMAD;   massive macronodular adrenocortical disease
 xref: GARD:10824;   ORDO:189427
For additional species annotation, visit the Alliance of Genome Resources.


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ACTH-independent macronodular adrenal hyperplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA ClinVar PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
ACTH-independent macronodular adrenal hyperplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:199,655,069...199,662,419
Ensembl chr 1:199,655,660...199,662,427
JBrowse link
G Gcgr glucagon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20529775 NCBI chr10:109,707,863...109,716,253
Ensembl chr10:109,707,962...109,716,128
JBrowse link
G Gnas GNAS complex locus ISO ClinVar Annotator: match by term: ACTH-INDEPENDENT MACRONODULAR ADRENOCORTICAL HYPERPLASIA
ClinVar Annotator: match by OMIM:219080
DNA:missense mutations:exon:p.R201S, p.R201H (human)
OMIM
ClinVar
PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 PMID:7739708 PMID:8766942 PMID:9267696 PMID:9626141 PMID:12727968 PMID:12970318 PMID:15126527 PMID:16507630 PMID:21835143 PMID:23536913 PMID:24855271 PMID:25157968 PMID:26619011, PMID:12727968 RGD:11568052 NCBI chr 3:172,374,957...172,434,988
Ensembl chr 3:172,374,957...172,428,483
Ensembl chr 3:172,374,957...172,428,483
JBrowse link
ACTH-independent macronodular adrenal hyperplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Armc5 armadillo repeat containing 5 ISO ClinVar Annotator: match by term: Acth-independent macronodular adrenal hyperplasia 2 OMIM
ClinVar
PMID:24283224 PMID:24601692 PMID:24905064 PMID:25741868 NCBI chr 1:199,655,069...199,662,419
Ensembl chr 1:199,655,660...199,662,427
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      endocrine system disease 5713
        adrenal gland disease 213
          adrenal cortex disease 75
            adrenal gland hyperfunction 31
              primary hyperaldosteronism 25
                ACTH-independent macronodular adrenal hyperplasia 3
                  ACTH-independent macronodular adrenal hyperplasia 1 3
                  ACTH-independent macronodular adrenal hyperplasia 2 1
paths to the root