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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, 2
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Accession:DOID:9002348 term browser browse the term
Synonyms:exact_synonym: PDE11A-RELATED CONDITION;   PPNAD2;   Pigmented Micronodular Adrenocortical Disease, Primary, 2;   adrenal Cushing syndrome, due to PPNAD2
 primary_id: MESH:C566472
 alt_id: OMIM:610475



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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:23911551 PMID:25741868 PMID:28492532 PMID:30122538 PMID:32686758 More... NCBI chr18:11,450,392...11,482,476
Ensembl chr18:11,450,390...11,482,392
JBrowse link
G Pde11a phosphodiesterase 11A ISO 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 3:60,913,562...61,297,154
Ensembl chr 3:60,913,562...61,297,158
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      endocrine system disease 6775
        adrenal gland disease 281
          adrenal cortex disease 98
            primary pigmented nodular adrenocortical disease 6
              Primary Pigmented Nodular Adrenocortical Disease, 2 2
paths to the root