Preferred Name |
Li Fraumeni syndrome |
|
Synonyms |
|
|
Definitions |
rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites; a point mutation of the p53 tumor suppressor gene apparently predisposes family members who inherit it to develop certain cancers including early breast carcinoma; associated with soft tissue sarcomas and other tumors. |
|
ID |
http://purl.bioontology.org/ontology/CSP/4006-0058 |
|
cui |
C0085390 |
|
definition |
rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites; a point mutation of the p53 tumor suppressor gene apparently predisposes family members who inherit it to develop certain cancers including early breast carcinoma; associated with soft tissue sarcomas and other tumors. |
|
DID |
4006-0058 |
|
Inverse of RB |
http://purl.bioontology.org/ontology/CSP/0944-7801 |
|
Inverse of RO |
http://purl.bioontology.org/ontology/CSP/4009-0016 http://purl.bioontology.org/ontology/CSP/2028-6798 |
|
notation |
4006-0058 |
|
prefLabel |
Li Fraumeni syndrome |
|
tui |
T047 |
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subClassOf |
http://purl.bioontology.org/ontology/CSP/0944-7801 |