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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:primary_id: RDO:9004945
 xref: GARD:10906;   OMIM:PS610489;   ORDO:189439
For additional species annotation, visit the Alliance of Genome Resources.


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primary pigmented nodular adrenocortical disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pde11a phosphodiesterase 11A ISS OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 MouseDO NCBI chr 3:62,818,502...63,211,843
Ensembl chr 3:62,818,502...63,211,845
JBrowse link
G Pde8b phosphodiesterase 8B ISS OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 MouseDO NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
JBrowse link
G Prkaca protein kinase cAMP-activated catalytic subunit alpha ISS OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 MouseDO NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISS OMIM:610475 | OMIM:610489 | OMIM:614190 | OMIM:615830 MouseDO NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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 ISO ClinVar Annotator: match by term: Nodular primary adrenocortical dysplasia 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
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by OMIM:610489 OMIM
ClinVar
PMID:12213893 NCBI chr10:97,940,705...97,959,199
Ensembl chr10:97,940,705...97,957,336
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 ISO ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 ClinVar PMID:25741868 NCBI chr18:11,826,705...11,858,801
Ensembl chr18:11,826,706...11,858,754
JBrowse link
G Pde11a phosphodiesterase 11A ISO ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2 OMIM
ClinVar
PMID:16767104 PMID:19671705 PMID:20351491 PMID:21047926 PMID:21681106 PMID:24033266 PMID:25741868 PMID:27535533 PMID:28492532 NCBI chr 3:62,818,502...63,211,843
Ensembl chr 3:62,818,502...63,211,845
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 ISO ClinVar Annotator: match by OMIM:614190 OMIM
ClinVar
PMID:18272904 NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
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 ISO ClinVar Annotator: match by OMIM:615830 ClinVar
OMIM
PMID:24571724 PMID:24700472 PMID:24747643 PMID:24855271 NCBI chr19:25,095,089...25,118,869
Ensembl chr19:25,095,089...25,118,860
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
            primary pigmented nodular adrenocortical disease 6
              Primary Pigmented Nodular Adrenocortical Disease, 1 2
              Primary Pigmented Nodular Adrenocortical Disease, 2 2
              Primary Pigmented Nodular Adrenocortical Disease, 3 1
              Primary Pigmented Nodular Adrenocortical Disease, 4 1
paths to the root