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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:16439621 PMID:16474404 PMID:17366577 PMID:17551924 PMID:17703371 More... NCBI chr21:109,495,525...109,690,261 JBrowse link
G POT1 protection of telomeres 1 ISO ClinVar Annotator: match by term: B-K MOLE SYNDROME ClinVar PMID:24686846 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30451293 More... NCBI chr21:93,572,139...93,688,374
Ensembl chr21:93,571,272...93,655,869 		JBrowse link
G STK11 serine/threonine kinase 11 ISO ClinVar Annotator: match by term: B-K MOLE SYNDROME ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 6:973,033...996,857
Ensembl chr 6:974,144...995,136 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15274
    syndrome 9981
      dysplastic nevus syndrome 3
Path 2
Term Annotations click to browse term
  disease 15274
    Developmental Disease 13266
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12392
        genetic disease 12047
          monogenic disease 10078
            autosomal genetic disease 9302
              autosomal dominant disease 6141
                dysplastic nevus syndrome 3
paths to the root