Preferred Name |
Li-Fraumeni syndrome |
|
Synonyms |
sarcoma, breast, leukaemia and adrenal gland 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 |
OMIM:PS151623 UMLS_CUI:C0085390 MESH:D016864 SNOMEDCT_US_2020_03_01:428850001 GARD:6902 NCI:C3476 ORDO:524 |
|
has exact synonym |
sarcoma, breast, leukaemia and adrenal gland syndrome Li-Fraumeni Familiar cancer Susceptibility syndrome SBLA syndrome |
|
has_obo_namespace |
disease_ontology |
|
id |
DOID:3012 |
|
imported from | ||
in_subset | ||
label |
Li-Fraumeni syndrome |
|
notation |
DOID:3012 |
|
prefLabel |
Li-Fraumeni syndrome |
|
textual 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. |
|
subClassOf |
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