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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:glomangioma
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Accession:DOID:2436 term browser browse the term
Definition:A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. (DO)
Synonyms:exact_synonym: GVM;   Glomangiomas, Multiple;   Glomus Tumors, Multiple;   Glomus Vagale Tumors;   Glomuvenous Malformation;   Glomuvenous malformations;   VMGLOM;   Venous Malformations With Glomus Cells
 primary_id: MESH:C536827
 alt_id: DOID:9003557;   OMIM:138000
 xref: ICDO:8712/0;   NCI:C4222;   ORDO:83454
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
glomangioma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glmn glomulin, FKBP associated protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Glomuvenous malformation | ClinVar Annotator: match by term: Glomuvenous malformations		 OMIM
CTD
ClinVar		 PMID:11175297 PMID:11845407 PMID:15689436 PMID:23375657 PMID:23801931 More... NCBI chr14:2,187,144...2,231,295
Ensembl chr14:2,187,642...2,230,420 		JBrowse link
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 18969
    disease of anatomical entity 18249
      cardiovascular system disease 5413
        cardiovascular organ benign neoplasm 131
          benign perivascular tumor 1
            glomangioma 1
              familial glomangioma 1
              skin glomangioma + 0
Path 2
Term Annotations click to browse term
  disease 18969
    disease of cellular proliferation 7692
      Neoplasms by Histologic Type 5288
        Connective and Soft Tissue Neoplasms 1894
          Connective Tissue Neoplasms 1773
            connective tissue cancer 810
              perivascular tumor 33
                hemangiopericytic tumor 10
                  glomus tumor 1
                    glomangioma 1
                      familial glomangioma 1
                      skin glomangioma + 0
paths to the root