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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: EFO:0009041;   GARD:10824;   ORDO:189427

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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 chrNW_004955493:8,295,868...8,302,638
Ensembl chrNW_004955493:8,295,868...8,304,520 		JBrowse link
G Gcgr glucagon receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:20529775 NCBI chrNW_004955506:1,340,410...1,348,028
Ensembl chrNW_004955506:1,340,689...1,344,260 		JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISO ClinVar Annotator: match by term: ACTH-independent adrenal Cushing syndrome, somatic ClinVar PMID:24571724 PMID:24700472 PMID:24747643 PMID:24855271 NCBI chrNW_004955415:32,794,172...32,807,944
Ensembl chrNW_004955415:32,793,718...32,812,930 		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 | ClinVar Annotator: match by term: ARMC5-related condition OMIM
ClinVar		 PMID:24283224 PMID:24601692 PMID:24708098 PMID:24905064 PMID:25741868 More... NCBI chrNW_004955493:8,295,868...8,302,638
Ensembl chrNW_004955493:8,295,868...8,304,520 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      endocrine system disease 5500
        adrenal gland disease 241
          adrenal cortex disease 81
            adrenal gland hyperfunction 27
              primary hyperaldosteronism 21
                ACTH-independent macronodular adrenal hyperplasia 3
                  ACTH-independent macronodular adrenal hyperplasia 1 3
                  ACTH-independent macronodular adrenal hyperplasia 2 1
paths to the root