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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, 1
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Accession:DOID:9005321 term browser browse the term
Synonyms:exact_synonym: Adrenocortical Nodular Dysplasia, Primary;   PPNAD1;   Pigmented Micronodular Adrenocortical Disease, Primary, 1;   adrenal Cushing syndrome, due to PPNAD1
 primary_id: MESH:C566469
 alt_id: OMIM:610489

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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:1517386 PMID:1594625 PMID:1944469 PMID:2549426 PMID:3720010 More... NCBI chrNW_004624741:25,138,678...25,197,194
Ensembl chrNW_004624741:25,183,329...25,196,880 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 1 OMIM
ClinVar		 PMID:9536098 PMID:12213893 PMID:17576681 PMID:21651393 PMID:22464250 More... NCBI chrNW_004624870:3,552,608...3,575,461
Ensembl chrNW_004624870:3,552,745...3,574,880 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14088
    disease of anatomical entity 13753
      endocrine system disease 5514
        adrenal gland disease 245
          adrenal cortex disease 83
            primary pigmented nodular adrenocortical disease 6
              Primary Pigmented Nodular Adrenocortical Disease, 1 2
paths to the root