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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 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
G Pot1 protection of telomeres 1 ISO ClinVar Annotator: match by term: B-K MOLE SYNDROME 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 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
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      dysplastic nevus syndrome 4
        Cutaneous Malignant Melanoma, Susceptibility To, 1 3
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        genetic disease 8962
          monogenic disease 7129
            autosomal genetic disease 6277
              autosomal dominant disease 4462
                dysplastic nevus syndrome 4
                  Cutaneous Malignant Melanoma, Susceptibility To, 1 3
paths to the root