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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:0070547 term browser browse the term
Definition:A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2. (DO)
Synonyms:exact_synonym: PDE11A-RELATED CONDITION;   PPNAD2;   Pigmented Micronodular Adrenocortical Disease, Primary, 2;   adrenal Cushing syndrome, due to PPNAD2
 alt_id: DOID:9002348
 xref: MESH:C566472;   MIM:610475;   MONDO:0012505


show annotations for term's descendants           Sort by:
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: PDE11A-related condition | ClinVar Annotator: match by term: Pigmented nodular adrenocortical disease, primary, 2		 OMIM
CTD
ClinVar		 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 19049
    disease of anatomical entity 18383
      endocrine system disease 6885
        adrenal gland disease 297
          adrenal cortex disease 100
            primary pigmented nodular adrenocortical disease 5
              primary pigmented nodular adrenocortical disease 2 2
Path 2
Term Annotations click to browse term
  disease 19049
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          monogenic disease 10702
            autosomal genetic disease 9874
              autosomal dominant disease 6529
                primary pigmented nodular adrenocortical disease 2 2
paths to the root