loading...| Preferred Name |
Li-Fraumeni Syndrome |
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| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C3476 |
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| ALT_DEFINITION |
A rare, inherited predisposition to multiple cancers, caused by an alteration in the p53 tumor suppressor gene. |
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| code |
C3476 |
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| Contributing_Source |
Cellosaurus CCPS CTRP GDC PCDC |
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| 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. |
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| Display_Name |
Li-Fraumeni Syndrome |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C179491 http://purl.obolibrary.org/obo/NCIT_C186341 http://purl.obolibrary.org/obo/NCIT_C177537 http://purl.obolibrary.org/obo/NCIT_C177516 http://purl.obolibrary.org/obo/NCIT_C174237 http://purl.obolibrary.org/obo/NCIT_C116977 http://purl.obolibrary.org/obo/NCIT_C177281 http://purl.obolibrary.org/obo/NCIT_C179478 http://purl.obolibrary.org/obo/NCIT_C165258 http://purl.obolibrary.org/obo/NCIT_C118168 http://purl.obolibrary.org/obo/NCIT_C157711 |
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| Is_PCDC_EWS_Permissible_Value_For_Variable | ||
| Is_Value_For_GDC_Property | ||
| label |
Li-Fraumeni Syndrome |
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| Legacy Concept Name |
Li-Fraumeni_Syndrome |
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| Maps_To |
Li-Fraumeni Syndrome |
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| NCI_META_CUI |
CL1642412 |
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| Preferred_Name |
Li-Fraumeni Syndrome |
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| prefixIRI |
NCIT:C3476 |
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| prefLabel |
Li-Fraumeni Syndrome |
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| Related_To_Genetic_Biomarker | ||
| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0085390 |
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| subClassOf |