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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
 alt_id: OMIM:112200
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 chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    syndrome 8125
      Blue Rubber Bleb Nevus Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of cellular proliferation 7034
      Neoplasms by Histologic Type 4765
        Nevi and Melanomas 338
          Nevus 19
            Pigmented Nevus 8
              Blue Nevus 2
                Blue Rubber Bleb Nevus Syndrome 1
paths to the root