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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:primary pigmented nodular adrenocortical disease
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Accession:DOID:0060280 term browser browse the term
Definition:An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. (DO)
Synonyms:xref: GARD:10906;   OMIM:PS610489;   ORDO:189439


show annotations for term's descendants           Sort by:
primary pigmented nodular adrenocortical disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISS OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 MouseDO NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
Primary Pigmented Nodular Adrenocortical Disease, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Nodular primary adrenocortical dysplasia ClinVar PMID:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192 		JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP
EXP		 ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:12213893 PMID:17576681 PMID:21651393 PMID:22464250 More... NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319 		JBrowse link
Primary Pigmented Nodular Adrenocortical Disease, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DSC2 desmocollin 2 IAGP ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 ClinVar PMID:23911551 PMID:25741868 PMID:28492532 PMID:30122538 PMID:32686758 More... NCBI chr18:31,058,840...31,102,421
Ensembl chr18:31,058,545...31,102,600 		JBrowse link
G PDE11A phosphodiesterase 11A IAGP
EXP		 ClinVar Annotator: match by term: PDE11A-related condition | ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16767104 PMID:19671705 PMID:20351491 PMID:21047926 PMID:21681106 More... NCBI chr 2:177,623,244...178,108,339
Ensembl chr 2:177,623,244...178,108,339 		JBrowse link
G PDE11A-AS1 PDE11A antisense RNA 1 IAGP ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2
ClinVar Annotator: match by term: PDE11A-related condition		 ClinVar PMID:16767104 PMID:25741868 PMID:28492532 NCBI chr 2:177,673,322...177,723,289
Ensembl chr 2:177,653,419...177,723,289 		JBrowse link
Primary Pigmented Nodular Adrenocortical Disease, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE8B phosphodiesterase 8B IAGP
EXP		 ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 3
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:18272904 NCBI chr 5:77,086,715...77,428,256
Ensembl chr 5:77,210,449...77,428,256
Ensembl chr 5:77,210,449...77,428,256 		JBrowse link
Primary Pigmented Nodular Adrenocortical Disease, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP
EXP		 ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 4
CTD Direct Evidence: marker/mechanism		 ClinVar
OMIM
CTD		 PMID:24571724 PMID:24700472 PMID:24747643 PMID:24855271 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35756
    disease of anatomical entity 32495
      endocrine system disease 7754
        adrenal gland disease 368
          adrenal cortex disease 148
            primary pigmented nodular adrenocortical disease 7
              Primary Pigmented Nodular Adrenocortical Disease, 1 2
              Primary Pigmented Nodular Adrenocortical Disease, 2 3
              Primary Pigmented Nodular Adrenocortical Disease, 3 1
              Primary Pigmented Nodular Adrenocortical Disease, 4 1
paths to the root