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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:Blue Nevus
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Accession:DOID:9001740 term browser browse the term
Definition:Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP.
Synonyms:exact_synonym: Blue Nevi;   Cellular Blue Nevi;   Cellular Blue Nevus
 primary_id: MESH:D018329
 xref: EFO:1000841

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Blue Rubber Bleb Nevus Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glmn glomulin, FKBP associated protein ISO ClinVar Annotator: match by term: Blue rubber bleb nevus ClinVar NCBI chrNW_004955423:2,195,428...2,233,389
Ensembl chrNW_004955423:2,195,423...2,232,706 		JBrowse link
G Tek TEK receptor tyrosine kinase ISO ClinVar Annotator: match by term: Blue rubber bleb nevus ClinVar PMID:10369874 PMID:20301733 PMID:25741868 NCBI chrNW_004955472:7,633,790...7,748,130
Ensembl chrNW_004955472:7,633,721...7,748,386 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    disease of cellular proliferation 6683
      Neoplasms by Histologic Type 4638
        Nevi and Melanomas 370
          Nevus 20
            Pigmented Nevus 8
              Blue Nevus 2
                Blue Nevi, Familial Multiple 0
                Blue Rubber Bleb Nevus Syndrome 2
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