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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-Like Syndrome
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Accession:DOID:9008828 term browser browse the term
Synonyms:primary_id: MESH:C567189
 alt_id: RDO:0015330
For additional species annotation, visit the Alliance of Genome Resources.


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Li-Fraumeni-Like Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by term: Li-fraumeni-like syndrome
ClinVar Annotator: match by term: Li-Fraumeni-like syndrome
ClinVar PMID:1349175, PMID:1565143, PMID:1565144, PMID:1591732, PMID:1679237, PMID:2531845, PMID:2554494, PMID:7565304, PMID:7783166, PMID:7791795, PMID:8023157, PMID:8134127, PMID:8164043, PMID:8401536, PMID:8550239, PMID:8718514, PMID:8829627, PMID:9218725, PMID:9242456, PMID:9364015, PMID:9667734, PMID:9839505, PMID:10519380, PMID:10922393, PMID:11370630, PMID:11429705, PMID:12726864, PMID:12826609, PMID:12885464, PMID:12917626, PMID:15722483, PMID:15925506, PMID:15951970, PMID:16401470, PMID:16494995, PMID:16551709, PMID:17015838, PMID:17311302, PMID:17606709, PMID:18511570, PMID:19012332, PMID:19468865, PMID:19930417, PMID:20128691, PMID:20407015, PMID:20522432, PMID:20805372, PMID:21059199, PMID:21305319, PMID:21343334, PMID:21761402, PMID:22672556, PMID:23161690, PMID:23538418, PMID:24033266, PMID:24122735, PMID:24573247, PMID:24835218, PMID:25157968, PMID:25584008, PMID:25619955, PMID:25741868, PMID:25896519, PMID:26014290, PMID:26205489, PMID:26225655, PMID:26619011, PMID:26786923, PMID:26845104, PMID:26878390, PMID:26911350, PMID:27077130, PMID:27276934, PMID:27621308, PMID:28369373, PMID:28472496, PMID:28492532, PMID:28975465 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      Li-Fraumeni syndrome 31
        Li-Fraumeni-Like Syndrome 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal dominant disease 3036
                Li-Fraumeni syndrome 31
                  Li-Fraumeni-Like Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.