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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:Tumor Predisposition Syndrome
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Accession:DOID:9001329 term browser browse the term
Synonyms:exact_synonym: TPDS



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Li-Fraumeni syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chek2 checkpoint kinase 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Breast and colorectal cancer, susceptibility to | ClinVar Annotator: match by term: CANCER PREDISPOSITION SYNDROME, CHEK2-RELATED | ClinVar Annotator: match by term: Li-Fraumeni syndrome 2 | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 4, BREAST/PROSTATE/COLORECTAL
CTD
ClinVar
OMIM
PMID:9536098 PMID:10617473 PMID:11053450 PMID:11298456 PMID:11390408 More... NCBI chr12:45,788,823...45,821,382
Ensembl chr12:45,788,827...45,821,286
JBrowse link
Mosaic Variegated Aneuploidy Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mad1l1 mitotic arrest deficient 1 like 1 ISO ClinVar Annotator: match by term: Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition OMIM
ClinVar
PMID:36322655 NCBI chr12:14,320,892...14,630,750
Ensembl chr12:14,320,892...14,630,703
JBrowse link
Tumor Predisposition Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations
CTD
ClinVar
OMIM
PMID:9536098 PMID:16199547 PMID:16341802 PMID:17576681 PMID:18757409 More... NCBI chr16:6,446,709...6,455,535
Ensembl chr16:6,446,709...6,455,535
JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 ClinVar PMID:21874000 PMID:23684012 PMID:25741868 PMID:28492532 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350
JBrowse link
G Nbn nibrin ISO ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 ClinVar PMID:9590180 PMID:9590181 PMID:9620777 PMID:10398434 PMID:10799436 More... NCBI chr 5:29,459,574...29,494,152
Ensembl chr 5:29,459,457...29,494,150
JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 ClinVar PMID:17200668 PMID:17200671 PMID:17200672 PMID:24136930 PMID:24763289 More... NCBI chr 1:176,665,076...176,689,053
Ensembl chr 1:176,665,076...176,688,990
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 ClinVar PMID:25318351 PMID:25741868 PMID:28492532 PMID:31386297 NCBI chr12:10,676,818...10,701,161
Ensembl chr12:10,676,764...10,701,066
JBrowse link
Tumor Predisposition Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mbd4 methyl-CpG binding domain 4 DNA glycosylase ISO ClinVar Annotator: match by term: Tumor predisposition syndrome 2 ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:29760383 PMID:30049810 PMID:30714079 More... NCBI chr 4:148,893,049...148,904,833
Ensembl chr 4:148,894,280...148,904,982
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21140
    disease of cellular proliferation 7662
      Tumor Predisposition Syndrome 8
        Li-Fraumeni syndrome 2 1
        Mosaic Variegated Aneuploidy Syndrome 7 1
        Tumor Predisposition Syndrome 1 5
        Tumor Predisposition Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 21140
    Pathological Conditions, Signs and Symptoms 13285
      Pathologic Processes 7954
        Disease Attributes 819
          Disease Susceptibility 181
            Genetic Predisposition to Disease 52
              Tumor Predisposition Syndrome 8
                Li-Fraumeni syndrome 2 1
                Mosaic Variegated Aneuploidy Syndrome 7 1
                Tumor Predisposition Syndrome 1 5
                Tumor Predisposition Syndrome 2 1
paths to the root