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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Li-Fraumeni syndrome 1
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Accession:DOID:0111503 term browser browse the term
Definition:A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1. (DO)
Synonyms:exact_synonym: LFS1
 narrow_synonym: LFL;   Li-Fraumeni -like syndrome
 related_synonym: LFS3;   Li-Fraumeni syndrome 3
 primary_id: MESH:C538639
 alt_id: DOID:9004131;   MESH:C563754;   OMIM:151623


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Li-Fraumeni syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 ClinVar PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 PMID:11479205 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 OMIM
ClinVar		 PMID:124622 PMID:182969 PMID:224644 PMID:253702 PMID:1200021 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Wrap53 WD repeat containing, antisense to TP53 ISO ClinVar Annotator: match by term: Li-Fraumeni syndrome 1 ClinVar NCBI chr10:54,282,092...54,299,908
Ensembl chr10:54,282,105...54,298,929 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10832
      Hereditary Neoplastic Syndromes 1279
        Li-Fraumeni syndrome 72
          Li-Fraumeni syndrome 1 3
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal dominant disease 6235
                Li-Fraumeni syndrome 72
                  Li-Fraumeni syndrome 1 3
paths to the root