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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:Melanoma-Pancreatic Cancer Syndrome
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Accession:DOID:9005006 term browser browse the term
Synonyms:exact_synonym: FAMMMPC;   FAMMMPC Syndrome;   Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome
 primary_id: MESH:C563985
 alt_id: MIM:606719


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Melanoma-Pancreatic Cancer Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma-pancreatic cancer syndrome		 OMIM
CTD
ClinVar		 PMID:2319082 PMID:2813514 PMID:5001868 PMID:7566978 PMID:7632931 More... NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    syndrome 11171
      Melanoma-Pancreatic Cancer Syndrome 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of cellular proliferation 7754
      cancer 5611
        organ system cancer 5374
          endocrine gland cancer 2449
            pancreatic cancer 430
              Melanoma-Pancreatic Cancer Syndrome 1
paths to the root