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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:9002089 term browser browse the term
Synonyms:exact_synonym: BAP1 Cancer Syndrome;   TPDS
 related_synonym: TUMOR SUSCEPTIBILITY LINKED TO GERMLINE BAP1 MUTATIONS
 primary_id: OMIM:614327;   RDO:9000846
For additional species annotation, visit the Alliance of Genome Resources.

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Tumor Predisposition Syndrome 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 OMIM:614327
ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by term: Tumor predisposition syndrome
ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations		 OMIM
ClinVar		 PMID:18757409 PMID:21874000 PMID:21874003 PMID:21941004 PMID:22545102 PMID:22683710 PMID:22935333 PMID:23032617 PMID:23171164 PMID:23341325 PMID:23684012 PMID:23709298 PMID:23849051 PMID:24166983 PMID:24243779 PMID:24728327 PMID:25225168 PMID:25501392 PMID:25687217 PMID:25741868 PMID:25787093 PMID:25889843 PMID:25929848 PMID:25974357 PMID:26096145 PMID:26154183 PMID:26166446 PMID:26409435 PMID:26556299 PMID:26683624 PMID:26689913 PMID:26719535 PMID:26774355 PMID:26845104 PMID:26876698 PMID:27123562 PMID:27181379 PMID:27718540 PMID:27749792 PMID:28034829 PMID:28062663 PMID:28170043 PMID:28380455 PMID:28492532 PMID:28560743 PMID:28687356 PMID:28767289 PMID:28793149 PMID:28900502 PMID:29212164 PMID:29478780 PMID:29753057 PMID:29754391 PMID:29761599 PMID:30039884 PMID:30258054 PMID:30338612 PMID:30414346 PMID:30477459 PMID:30517737 PMID:30548481 PMID:30980208 PMID:31034483 PMID:31058963 PMID:31382694 NCBI chr16:7,336,685...7,345,511
Ensembl chr16:7,336,685...7,345,511 		JBrowse link
G Brca2 BRCA2, DNA repair associated ISO ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations ClinVar PMID:11857748 PMID:12673801 PMID:12942367 PMID:12955716 PMID:23199084 PMID:24156927 PMID:25741868 PMID:26467025 PMID:26681312 PMID:27393621 PMID:28492532 PMID:28724667 PMID:29339979 PMID:29446198 NCBI chr12:503,660...544,754
Ensembl chr12:504,007...544,748 		JBrowse link
G Dnah1 dynein, axonemal, heavy chain 1 ISO ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations ClinVar PMID:28492532 PMID:30517737 NCBI chr16:7,345,131...7,407,009
Ensembl chr16:7,345,978...7,408,265 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations ClinVar PMID:10678181 PMID:16944272 PMID:23460398 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903 		JBrowse link
G Palb2 partner and localizer of BRCA2 ISO ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations ClinVar PMID:24763289 PMID:25741868 PMID:26467025 PMID:26681312 PMID:27433846 PMID:28492532 NCBI chr 1:192,064,586...192,088,547
Ensembl chr 1:192,064,589...192,088,520 		JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations ClinVar PMID:20487569 PMID:25318351 PMID:25741868 PMID:25980754 PMID:27064304 PMID:27435373 PMID:28492532 NCBI chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of cellular proliferation 5923
      Tumor Predisposition Syndrome 6
Path 2
Term Annotations click to browse term
  disease 16085
    Pathological Conditions, Signs and Symptoms 8822
      Pathologic Processes 6194
        Disease Attributes 588
          Disease Susceptibility 151
            Genetic Predisposition to Disease 40
              Tumor Predisposition Syndrome 6
paths to the root