loading...| Preferred Name |
Li-Fraumeni syndrome |
|
| Synonyms |
|
|
| Definitions |
A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_524 |
|
| definition |
A rare, inherited, cancer predisposition syndrome characterized by the early-onset of multiple primary cancers including breast cancer, soft tissue and bone sarcomas, brain tumors, adrenal cortical carcinoma (ACC), leukemias, and other cancers. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=524 |
|
| has_age_of_onset |
All ages |
|
| has_inheritance |
Autosomal dominant |
|
| hasDbXref |
UMLS:C0085390 OMIM:151623 MeSH:D016864 MedDRA:10066795 ICD-11:2B51.Y OMIM:609265 ICD-10:C97 |
|
| label |
Li-Fraumeni syndrome |
|
| notation |
ORPHA:524 |
|
| part_of |
http://www.orpha.net/ORDO/Orphanet_619340 |
|
| prefixIRI |
ORDO:Orphanet_524 |
|
| prefLabel |
Li-Fraumeni syndrome |
|
| present_in |
United Kingdom AND has_point_prevalence_average_value : 7.0 AND has_point_prevalence_range : 1-9 / 100 000 Worldwide AND has_point_prevalence_range : Unknown United States AND has_point_prevalence_average_value : 5.0 AND has_point_prevalence_range : 1-9 / 100 000 |
|
| treeView |
http://www.orpha.net/ORDO/Orphanet_619340 |
|
| subClassOf |