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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 Rubber Bleb Nevus Syndrome
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Accession:DOID:9002428 term browser browse the term
Synonyms:exact_synonym: Bean syndrome;   Blue rubber bleb nevus
 primary_id: MESH:C536240;   RDO:0001735
For additional species annotation, visit the Alliance of Genome Resources.


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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Blue Rubber Bleb Nevus Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of cellular proliferation 5918
      Neoplasms by Histologic Type 3729
        Nevi and Melanomas 333
          Nevus 18
            Pigmented Nevus 8
              Nevus, Blue 2
                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.