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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:Cutaneous Malignant Melanoma, Susceptibility To, 1
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Accession:DOID:9000881 term browser browse the term
Synonyms:exact_synonym: CMM;   CMM1;   DNS;   MLM;   hereditary dysplastic nevus syndrome
 primary_id: OMIM:155600
 alt_id: RDO:0008053
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Cutaneous Malignant Melanoma, Susceptibility To, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO OMIM NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463
JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar PMID:24686846 PMID:28492532 NCBI chr 4:54,205,330...54,263,137
Ensembl chr 4:54,205,332...54,263,042
JBrowse link
G Stk11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B-K MOLE SYNDROME ClinVar
OMIM
PMID:10201537 PMID:10208439 PMID:25157968 NCBI chr 7:9,574,553...9,591,315
Ensembl chr 7:9,575,269...9,591,315
JBrowse link
G Tert telomerase reverse transcriptase ISO ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY ClinVar NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      dysplastic nevus syndrome 5
        Cutaneous Malignant Melanoma, Susceptibility To, 1 4
Path 2
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      Neoplasms by Site 6698
        Nervous System Neoplasms 1693
          nervous system cancer 1066
            neuroectodermal tumor 667
              neuroendocrine tumor 495
                melanoma 336
                  skin melanoma 73
                    familial melanoma 17
                      Cutaneous Malignant Melanoma, Susceptibility To, 1 4
paths to the root