Preferred Label : Sarcoma, synovial;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Synovial sarcomas, which represent approximately 10% of all soft tissue sarcomas,
are aggressive spindle cell sarcomas containing in some cases areas of epithelial
differentiation. They consistently show a specific t(X;18)(p11.2;q11.2), which usually
represents either of 2 gene fusions, SYT (600192)-SSX1 (312820) or SYT-SSX2 (300192),
encoding putative transcriptional proteins differing at 13 amino acid positions (summary
by Ladanyi et al., 2002). Synovial sarcoma, according to the experience of Enzinger
and Weiss (1983), is the fourth most common type of soft tissue sarcoma. It usually
develops in adolescents and young adults, is more common in males than in females,
and has no racial predilection.;
Prefixed ID : 300813;
Origin ID : 300813;
UMLS CUI : C0039101;
- Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)