loading...| Preferred Name |
Li-Fraumeni Syndrome |
|
| Synonyms |
Li-Fraumeni Li-Fraumeni Familial Cancer Susceptibility Syndrome Li-Fraumeni syndrome Li-Fraumeni Syndrome TP53-Associated Li-Fraumeni Syndrome Li-Fraumeni Syndrome, TP53-Associated |
|
| Definitions |
An autosomal dominant cancer predisposition syndrome caused by germline mutations of the TP53 gene. It is associated with breast carcinoma, choroid plexus carcinoma, adrenal cortex carcinoma, astrocytic tumors, medulloblastoma, soft tissue sarcoma, osteosarcoma, and leukemia. |
|
| 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 |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177281 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C157711 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186315 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C174237 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116977 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C177516 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C192842 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C118168 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C165258 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C179491 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C186341 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C174251 |
|
| Contributing_Source |
Cellosaurus CCPS CTRP GDC PCDC |
|
| DEFINITION |
An autosomal dominant cancer predisposition syndrome caused by germline mutations of the TP53 gene. It is associated with breast carcinoma, choroid plexus carcinoma, adrenal cortex carcinoma, astrocytic tumors, medulloblastoma, soft tissue sarcoma, osteosarcoma, and leukemia. |
|
| Display_Name |
Li-Fraumeni Syndrome |
|
| FULL_SYN |
Li-Fraumeni Li-Fraumeni Familial Cancer Susceptibility Syndrome Li-Fraumeni syndrome Li-Fraumeni Syndrome TP53-Associated Li-Fraumeni Syndrome Li-Fraumeni Syndrome, TP53-Associated |
|
| Is_PCDC_EWS_Authorized_Value_For_Variable | ||
| Is_Value_For_GDC_Property | ||
| label |
Li-Fraumeni Syndrome |
|
| Legacy Concept Name |
Li-Fraumeni_Syndrome |
|
| Maps_To |
Li-Fraumeni Syndrome |
|
| Preferred_Name |
Li-Fraumeni Syndrome |
|
| prefixIRI |
Thesaurus:C3476 |
|
| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
|
| UMLS_CUI |
C0085390 |
|
| subClassOf |