loading...| Preferred Name |
Li-Fraumeni Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3476 |
| ALT_DEFINITION |
A rare, inherited predisposition to multiple cancers, caused by an alteration in the p53 tumor suppressor gene. |
| code |
C3476 |
| Concept_In_Subset | |
| Contributing_Source |
CTRP |
| DEFINITION |
An autosomal dominant hereditary neoplastic syndrome caused by an alteration in the p53 tumor suppressor gene. It is characterized by the development of malignant neoplasms at various anatomic sites. The malignant neoplasms associated with Li-Fraumeni syndrome include adrenal cortex carcinoma, astrocytic tumors, colorectal carcinoma, gastric carcinoma, malignant breast neoplasms, medulloblastoma, osteosarcoma, and soft tissue sarcomas. |
| Display_Name |
Li-Fraumeni Syndrome |
| FULL_SYN |
Li-Fraumeni Familial Cancer Susceptibility Syndrome |
| label |
Li-Fraumeni Syndrome |
| Legacy_Concept_Name |
Li-Fraumeni_Syndrome |
| Preferred_Name |
Li-Fraumeni Syndrome |
| prefixIRI |
C3476 |
| prefLabel |
Li-Fraumeni Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0085390 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D016864 | Medical Subject Headings | LOOM | |
| http://purl.obolibrary.org/obo/DOID_3012 | Human Disease Ontology 123 | LOOM |