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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:Rhabdoid Tumor Predisposition Syndrome 2
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Accession:DOID:9001988 term browser browse the term
Synonyms:exact_synonym: RTPS2
 broad_synonym: SMARCA4-RELATED BAFOPATHY;   SMARCA4-RELATED CONDITION
 primary_id: MESH:C567643;   RDO:0015659
 alt_id: OMIM:613325


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Rhabdoid Tumor Predisposition Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2		 OMIM
CTD
ClinVar		 PMID:8269278 PMID:9536098 PMID:11085541 PMID:15756273 PMID:16199547 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      Neoplasms by Histologic Type 5258
        Complex and Mixed Neoplasms 356
          rhabdoid cancer 9
            Rhabdoid Tumor Predisposition Syndrome 2 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      Urogenital Diseases 5218
        Urogenital Neoplasms 2193
          Urologic Neoplasms 733
            urinary system cancer 679
              kidney cancer 481
                childhood kidney cancer 9
                  rhabdoid cancer 9
                    Rhabdoid Tumor Predisposition Syndrome 2 2
paths to the root