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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 1
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Accession:DOID:9002089 term browser browse the term
Definition:This is a condition in which individuals carrying heterozygous BAP1 mutations are at high-risk for the development of a variety of tumors.
Synonyms:exact_synonym: BAP1 Cancer Syndrome;   BAP1 TUMOR PREDISPOSITION SYNDROME
 related_synonym: TUMOR SUSCEPTIBILITY LINKED TO GERMLINE BAP1 MUTATIONS
 primary_id: OMIM:614327

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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: BAP1 tumor predisposition syndrome | ClinVar Annotator: match by term: TUMOR PREDISPOSITION SYNDROME 1 | ClinVar Annotator: match by term: Tumor susceptibility linked to germline BAP1 mutations OMIM
ClinVar		 PMID:1189319 PMID:9536098 PMID:16199547 PMID:16341802 PMID:17576681 More... NCBI chrNW_004955430:2,391,970...2,400,645
Ensembl chrNW_004955430:2,390,524...2,400,645 		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 chrNW_004955430:2,323,928...2,391,470
Ensembl chrNW_004955430:2,327,584...2,391,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14196
    disease of cellular proliferation 6702
      Tumor Predisposition Syndrome 5
        Tumor Predisposition Syndrome 1 2
Path 2
Term Annotations click to browse term
  disease 14196
    Pathological Conditions, Signs and Symptoms 11064
      Pathologic Processes 6876
        Disease Attributes 778
          Disease Susceptibility 146
            Genetic Predisposition to Disease 43
              Tumor Predisposition Syndrome 5
                Tumor Predisposition Syndrome 1 2
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