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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:adrenal cortical adenoma
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Accession:DOID:0050891 term browser browse the term
Definition:An adrenal adenoma that is a benign tumor of the adrenal cortex. (DO)
Synonyms:exact_synonym: Conn Adenoma;   Conn adenomas;   Conn disease;   Conn's disease;   Conns disease;   adrenal cortical adenomas;   adrenocortical adenoma;   adrenocortical adenomas
 narrow_synonym: Aldosterone Producing Adrenal Cortex Adenoma;   Cortisol-Producing Adrenal Cortex Adenoma;   Non-Functioning Adrenal Cortex Adenoma;   Sex Hormone-Producing Adrenal Cortex Adenoma
 primary_id: MESH:D018246
 xref: EFO:0003104;   EFO:1000208;   EFO:1000399;   EFO:1000523;   NCI:C9003


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adrenal cortical adenoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 ISO ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma ClinVar PMID:23416519 NCBI chr17:53,828,482...53,847,043
Ensembl chr17:53,813,976...53,847,167 		JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO ClinVar Annotator: match by term: Aldosterone-producing adrenal cortex adenoma ClinVar PMID:23416519 NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609 		JBrowse link
G CYP11B1 cytochrome P450 family 11 subfamily B member 1 ISO mRNA:increased expression:adrenal gland (human) RGD PMID:12457455 RGD:4891170 NCBI chr13:36,866,476...36,880,625 JBrowse link
G MEN1 menin 1 ISO ClinVar Annotator: match by term: Adrenocortical adenoma ClinVar PMID:10647896 NCBI chr18:52,346,747...52,352,884
Ensembl chr18:52,346,933...52,353,340 		JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha ISO associated with Cushing syndrome;DNA:point mutation:CDS:p.L206R (c.617T>G) (human) RGD PMID:24855271 RGD:13515122 NCBI chr20:48,416,730...48,425,237
Ensembl chr20:48,409,045...48,426,669 		JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:29669941 NCBI chr 6:63,615,445...63,729,386
Ensembl chr 6:63,618,323...63,730,146 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of cellular proliferation 7263
      benign neoplasm 2153
        organ system benign neoplasm 1257
          endocrine organ benign neoplasm 147
            adrenal adenoma 6
              adrenal cortical adenoma 6
Path 2
Term Annotations click to browse term
  disease 17773
    disease of cellular proliferation 7263
      Neoplasms by Site 6728
        Endocrine Gland Neoplasms 2536
          Adrenal Gland Neoplasms 57
            Adrenal Cortex Neoplasms 50
              adrenal adenoma 6
                adrenal cortical adenoma 6
paths to the root