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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:Nevus, Blue
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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;   RDO:0001737
For additional species annotation, visit the Alliance of Genome Resources.


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Nevus, Blue term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: Blue nevus ClinVar NCBI chr12:42,059,688...42,148,226
Ensembl chr12:42,097,626...42,148,146
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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 chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of cellular proliferation 5918
      Neoplasms by Histologic Type 3730
        Nevi and Melanomas 334
          Nevus 18
            Pigmented Nevus 8
              Nevus, Blue 2
                Blue Nevi, Familial Multiple 0
                Blue Rubber Bleb Nevus Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.