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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
ClinVar Annotator: match by term: FAMILIAL ATYPICAL MULTIPLE MOLE MELANOMA-PANCREATIC CARCINOMA SYNDROME
OMIM
ClinVar
PMID:7566978, PMID:7632931, PMID:7647780, PMID:7666917, PMID:7670475, PMID:7718873, PMID:7777061, PMID:7780957, PMID:7882348, PMID:7923152, PMID:7970734, PMID:7972006, PMID:7987387, PMID:7987388, PMID:8012957, PMID:8552158, PMID:8561866, PMID:8570179, PMID:8573142, PMID:8595411, PMID:8603820, PMID:8668202, PMID:8710906, PMID:8755727, PMID:8841025, PMID:9049826, PMID:9133447, PMID:9166859, PMID:9185756, PMID:9212218, PMID:9324288, PMID:9389568, PMID:9425228, PMID:9473234, PMID:9516223, PMID:9660926, PMID:9699728, PMID:9751050, PMID:9782052, PMID:9808520, PMID:9823374, PMID:9856796, PMID:9916806, PMID:9935245, PMID:10229204, PMID:10389768, PMID:10390011, PMID:10398427, PMID:10400925, PMID:10498896, PMID:10508477, PMID:10627132, PMID:10719365, PMID:10738302, PMID:10854221, PMID:10869234, PMID:10874641, PMID:10951521, PMID:10956390, PMID:11156381, PMID:11360201, PMID:11506491, PMID:11556834, PMID:11579459, PMID:11595726, PMID:11687599, PMID:11807902, PMID:11815963, PMID:12072543, PMID:12352668, PMID:12417040, PMID:12461329, PMID:12485439, PMID:12532425, PMID:12549483, PMID:12606942, PMID:12700603, PMID:12853981, PMID:12894891, PMID:14508519, PMID:14679123, PMID:14735200, PMID:15075790, PMID:15122588, PMID:15146471, PMID:15173226, PMID:15235029, PMID:15705881, PMID:15761864, PMID:15860862, PMID:15937071, PMID:15945100, PMID:16169933, PMID:16234564, PMID:16354195, PMID:16397522, PMID:16614725, PMID:16818274, PMID:16896043, PMID:16905682, PMID:17047042, PMID:17218939, PMID:17255954, PMID:17370310, PMID:17397031, PMID:17713569, PMID:18023021, PMID:18025365, PMID:18178632, PMID:18335566, PMID:18337833, PMID:18363633, PMID:18519632, PMID:18573309, PMID:18803811, PMID:18843795, PMID:18981015, PMID:18983535, PMID:19141585, PMID:19260062, PMID:19320745, PMID:19360740, PMID:19523171, PMID:19571771, PMID:19690981, PMID:19799798, PMID:20093296, PMID:20132244, PMID:20340136, PMID:20505745, PMID:20539244, PMID:20653773, PMID:20876876, PMID:21150883, PMID:21325014, PMID:21462282, PMID:21619050, PMID:21801156, PMID:21893440, PMID:22292911, PMID:22368299, PMID:22636603, PMID:22703879, PMID:22841127, PMID:22995991, PMID:23190892, PMID:23371019, PMID:23613284, PMID:24033266, PMID:24185512, PMID:24659262, PMID:24728327, PMID:24733792, PMID:24737347, PMID:25064638, PMID:25186627, PMID:25318351, PMID:25356972, PMID:25372287, PMID:25479140, PMID:25741868, PMID:25780468, PMID:25787093, PMID:25803691, PMID:25846456, PMID:25980754, PMID:26104880, PMID:26206375, PMID:26225579, PMID:26295973, PMID:26381259, PMID:26467025, PMID:26474073, PMID:26483394, PMID:26498684, PMID:26581427, PMID:26601054, PMID:26650572, PMID:26658419, PMID:26670561, PMID:26681309, PMID:26775776, PMID:26845104, PMID:26976419, PMID:27181379, PMID:27473757, PMID:27626068, PMID:27701467, PMID:27756164, PMID:27960642, PMID:27978560, PMID:28135145, PMID:28146043, PMID:28410231, PMID:28492532, PMID:28521409, PMID:28592523, PMID:28599463, PMID:28640387, PMID:28726808, PMID:28765326, PMID:28767289, PMID:28830827, PMID:28866070, PMID:28873162, PMID:28944238, PMID:28979722, PMID:29263814, PMID:29533785, PMID:29541281, PMID:29758216, PMID:29774366, PMID:30207590, PMID:30311386, PMID:30339520, PMID:31921681 NCBI chr 5:107,823,323...107,832,405
Ensembl chr 5:107,823,330...107,841,175
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Melanoma-Pancreatic Cancer Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    disease of cellular proliferation 5912
      Neoplasms by Site 5277
        Nervous System Neoplasms 1664
          nervous system cancer 1607
            neuroectodermal tumor 640
              neuroendocrine tumor 469
                melanoma 327
                  Melanoma-Pancreatic Cancer Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.