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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: OMIM:606719;   RDO:0013093
For additional species annotation, visit the Alliance of Genome Resources.



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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 ClinVar Annotator: match by term: Melanoma-pancreatic cancer syndrome OMIM
ClinVar
PMID:7566978 PMID:7632931 PMID:7647780 PMID:7666917 PMID:7670475 More... NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    syndrome 9456
      Melanoma-Pancreatic Cancer Syndrome 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of cellular proliferation 7258
      Neoplasms by Site 6884
        Nervous System Neoplasms 1741
          nervous system cancer 1109
            neuroectodermal tumor 700
              neuroendocrine tumor 523
                melanoma 346
                  Melanoma-Pancreatic Cancer Syndrome 1
paths to the root