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loading...| Preferred Name |
Li-Fraumeni Syndrome [Disease/Finding] |
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| Synonyms |
Li-Fraumeni Syndrome |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000003489 |
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| altLabel |
Li-Fraumeni Syndrome |
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| cui |
C0085390 |
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| MESH DEFINITION |
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA. |
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| MESH DUI |
D016864 |
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| MeSH name |
Li-Fraumeni Syndrome |
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| MESH UI |
M0025667 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000003489 |
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| NUI |
N0000003489 |
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| prefLabel |
Li-Fraumeni Syndrome [Disease/Finding] |
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| tui |
T191 |
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| subClassOf |
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