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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:dysplastic nevus syndrome
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Accession:DOID:10041 term browser browse the term
Definition:A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members. (DO)
Synonyms:exact_synonym: B K mole syndrome;   FAMM syndrome;   FAMMM;   dysplastic nevi;   dysplastic nevus;   familial atypical multiple mole-melanoma
 primary_id: MESH:D004416
 xref: GARD:9281
For additional species annotation, visit the Alliance of Genome Resources.


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dysplastic nevus syndrome 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 ClinVar Annotator: match by term: B-K MOLE SYNDROME ClinVar PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Cdkn2a cyclin-dependent kinase inhibitor 2A ISO DNA:missense mutation:exon:p.P48L (human) RGD PMID:10338331 RGD:8552302 NCBI chr 5:103,984,949...103,992,143
Ensembl chr 5:103,984,949...104,003,149 		JBrowse link
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 ClinVar Annotator: match by term: DYSPLASTIC NEVUS SYNDROME, HEREDITARY
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2500657 PMID:16439621 PMID:16474404 PMID:17366577 PMID:17551924 More... NCBI chr 4:68,375,484...68,510,652
Ensembl chr 4:68,384,649...68,510,463 		JBrowse link
G Mc1r melanocortin 1 receptor ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar PMID:16809487 PMID:17279550 PMID:17316231 PMID:18067130 PMID:18803811 More... NCBI chr19:51,452,448...51,455,375
Ensembl chr19:51,453,239...51,454,192 		JBrowse link
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar PMID:24686846 PMID:25741868 PMID:28492532 PMID:30451293 PMID:30586141 More... 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Melanoma, cutaneous malignant, susceptibility to, 1		 OMIM
CTD
ClinVar		 PMID:10201537 PMID:10208439 PMID:11668633 PMID:15188174 PMID:16287113 More... 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: Melanoma, cutaneous malignant, susceptibility to, 1 ClinVar NCBI chr 1:29,637,213...29,659,561
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 21112
    syndrome 10710
      dysplastic nevus syndrome 6
        Cutaneous Malignant Melanoma, Susceptibility To, 1 5
Path 2
Term Annotations click to browse term
  disease 21112
    Developmental Disease 18434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18288
        genetic disease 18231
          monogenic disease 10212
            autosomal genetic disease 9354
              autosomal dominant disease 6131
                dysplastic nevus syndrome 6
                  Cutaneous Malignant Melanoma, Susceptibility To, 1 5
paths to the root