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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:alveolar soft part sarcoma
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Accession:DOID:4239 term browser browse the term
Definition:A variety of rare sarcoma having a reticulated fibrous stroma enclosing groups of sarcoma cells, which resemble epithelial cells and are enclosed in alveoli walled with connective tissue. It is a rare tumor, usually occurring between 15 and 35 years of age. It appears in the muscles of the extremities in adults and most commonly in the head and neck regions of children. Though slow-growing, it commonly metastasizes to the lungs, brain, bones, and lymph nodes. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1365)
Synonyms:exact_synonym: ASPS;   adult alveolar soft part sarcoma;   childhood alveolar soft part sarcoma;   pediatric alveolar soft part sarcoma
 primary_id: MESH:D018234
 alt_id: OMIM:606243;   RDO:0007128
 xref: GARD:5654;   NCI:C3750;   NCI:C7943;   NCI:C8092;   ORDO:163699
For additional species annotation, visit the Alliance of Genome Resources.


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alveolar soft part sarcoma term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspscr1 ASPSCR1 tether for SLC2A4, UBX domain containing ISO OMIM NCBI chr10:109,851,407...109,889,339
Ensembl chr10:109,851,854...109,888,623
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of cellular proliferation 6944
      cancer 4896
        cell type cancer 3391
          sarcoma 243
            alveolar soft part sarcoma 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        peripheral nervous system disease 2516
          neuropathy 2316
            neuromuscular disease 1829
              muscular disease 1229
                muscle tissue disease 820
                  Muscle Tissue Neoplasms 139
                    musculoskeletal system benign neoplasm 81
                      muscle benign neoplasm 55
                        skeletal muscle neoplasm 41
                          skeletal muscle cancer 41
                            alveolar soft part sarcoma 1
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