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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:familial glomangioma
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Accession:DOID:7996 term browser browse the term
Synonyms:xref: NCI:C5350
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
familial glomangioma 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: Familial glomangioma ClinVar PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 More... NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      cardiovascular system disease 5538
        cardiovascular organ benign neoplasm 133
          benign perivascular tumor 1
            glomangioma 1
              familial glomangioma 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of cellular proliferation 7914
      Neoplasms by Histologic Type 5403
        Connective and Soft Tissue Neoplasms 1921
          Connective Tissue Neoplasms 1805
            connective tissue cancer 814
              perivascular tumor 33
                hemangiopericytic tumor 10
                  glomus tumor 1
                    glomangioma 1
                      familial glomangioma 1
paths to the root