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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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
Mosaic Variegated Aneuploidy Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mad1l1 mitotic arrest deficient 1 like 1 ISO OMIM 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bap1 Brca1 associated protein 1 ISO ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations OMIM
ClinVar		 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:28492532 NCBI chr16:6,455,514...6,517,103
Ensembl chr16:6,456,002...6,518,350 		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 chr12:10,676,819...10,701,161
Ensembl chr12:10,676,764...10,701,066 		JBrowse link
Tumor Predisposition Syndrome 2 term browser
Symbol Object Name 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 OMIM
ClinVar		 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 20983
    disease of cellular proliferation 7638
      Tumor Predisposition Syndrome 6
        Mosaic Variegated Aneuploidy Syndrome 7 1
        Tumor Predisposition Syndrome 1 4
        Tumor Predisposition Syndrome 2 1
Path 2
Term Annotations click to browse term
  disease 20983
    Pathological Conditions, Signs and Symptoms 13307
      Pathologic Processes 8244
        Disease Attributes 801
          Disease Susceptibility 178
            Genetic Predisposition to Disease 50
              Tumor Predisposition Syndrome 6
                Mosaic Variegated Aneuploidy Syndrome 7 1
                Tumor Predisposition Syndrome 1 4
                Tumor Predisposition Syndrome 2 1
paths to the root