loading...| Preferred Name |
Li-Fraumeni syndrome |
| Synonyms |
SBLA syndrome |
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. |
| ID |
http://purl.obolibrary.org/obo/DOID_3012 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
NCI:C3476 GARD:6902 UMLS_CUI:C0085390 SNOMEDCT_US_2022_09_01:428850001 MESH:D016864 ORDO:524 OMIM:PS151623 |
| definition |
A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. |
| has exact synonym |
SBLA syndrome sarcoma, breast, leukaemia and adrenal gland syndrome Li-Fraumeni Familiar cancer Susceptibility syndrome |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:3012 |
| in_subset | |
| label |
Li-Fraumeni syndrome |
| notation |
DOID:3012 |
| prefLabel |
Li-Fraumeni syndrome |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D016864 | Medical Subject Headings | LOOM | |
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3476 | National Cancer Institute Thesaurus | LOOM |