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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:glomus tumor
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Accession:DOID:2431 term browser browse the term
Definition:A blue-red, extremely painful vascular neoplasm involving a glomeriform arteriovenous anastomosis (glomus body), which may be found anywhere in the skin, most often in the distal portion of the fingers and toes, especially beneath the nail. It is composed of specialized pericytes (sometimes termed glomus cells), usually in single encapsulated nodular masses which may be several millimeters in diameter (From Stedman, 27th ed). CHEMODECTOMA, a tumor of NEURAL CREST origin, is also sometimes called a glomus tumor.
Synonyms:exact_synonym: Glomangioma;   Glomangiomas;   Glomus Tumors;   Glomus neoplasm;   Glomus tumour
 primary_id: MESH:D005918
 xref: NCI:C3060;   ORDO:391651
For additional species annotation, visit the Alliance of Genome Resources.


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glomus tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glmn glomulin, FKBP associated protein ISO glomuvenous malformations RGD PMID:11845407 RGD:1598992 NCBI chr14:3,204,390...3,247,703
Ensembl chr14:3,204,390...3,247,695
JBrowse link
G Sdhd succinate dehydrogenase complex subunit D ISO ClinVar Annotator: match by term: Glomus tumor ClinVar PMID:10657297 PMID:11156372 PMID:11526495 PMID:12007193 PMID:12111639 PMID:12386824 PMID:12696072 PMID:14557476 PMID:15032977 PMID:15623805 PMID:18678321 PMID:21565294 PMID:21979946 PMID:22584711 PMID:22703879 PMID:23175444 PMID:23666964 PMID:24033266 PMID:24728327 PMID:24886695 PMID:25149476 PMID:25694510 PMID:25695889 PMID:25741868 PMID:26467025 PMID:27153395 PMID:27279923 PMID:28128698 PMID:28164237 PMID:28492532 PMID:29386252 NCBI chr 8:55,028,125...55,037,604
Ensembl chr 8:55,028,125...55,037,604
JBrowse link
Glomus Vagale Tumors 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 OMIM:138000
ClinVar Annotator: match by term: Glomuvenous malformations
ClinVar
OMIM
PMID:11175297 PMID:11845407 PMID:15689436 PMID:23801931 PMID:24033266 PMID:25741868 PMID:28492532 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 16918
    disease of cellular proliferation 6900
      Neoplasms by Histologic Type 4436
        Vascular Tissue Neoplasms 130
          glomus tumor 2
            Glomus Vagale Tumors 1
            glomangioma + 0
            glomangiosarcoma 0
            skin glomus tumor 0
            subungual glomus tumor 0
Path 2
Term Annotations click to browse term
  disease 16918
    disease of cellular proliferation 6900
      cancer 4836
        organ system cancer 4662
          cardiovascular cancer 37
            vascular cancer 37
              perivascular tumor 18
                hemangiopericytic tumor 2
                  glomus tumor 2
                    Glomus Vagale Tumors 1
                    glomangioma + 0
                    glomangiosarcoma 0
                    skin glomus tumor 0
                    subungual glomus tumor 0
paths to the root