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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:atypical teratoid rhabdoid tumor
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Accession:DOID:2129 term browser browse the term
Definition:A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. (DO)
Synonyms:exact_synonym: Brain Tumor, Posterior Fossa, of Infancy, Familial;   Malignant Rhabdoid Tumor, Somatic;   RTPS1;   Rhabdoid Tumor Predisposition Syndrome 1;   Rhabdoid tumor of the CNS;   atypical teratoid tumor;   atypical teratoid/rhabdoid tumour;   rhabdoid tumour of the CNS
 narrow_synonym: AT/RT;   BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL MALIGNANT RHABDOID TUMOR, SOMATIC;   RDT;   RHABDOID TUMOR
 related_synonym: rhabdoid tumor predisposition syndrome
 primary_id: MESH:C563737;   MESH:C563738
 alt_id: OMIM:609322
 xref: NCI:C6906;   ORDO:99966
For additional species annotation, visit the Alliance of Genome Resources.



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atypical teratoid rhabdoid tumor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atrx ATRX, chromatin remodeler ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:7697714 PMID:8968741 PMID:18414213 PMID:22995991 PMID:24082139 More... NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:28492532 NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
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 1
ClinVar Annotator: match by OMIM:609322
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic
OMIM
ClinVar
PMID:9536098 PMID:9671307 PMID:9892189 PMID:10521299 PMID:10739763 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical teratoid rhabdoid tumor ClinVar PMID:1565143 PMID:1591732 PMID:7565304 PMID:7783166 PMID:8550239 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of cellular proliferation 7054
      Neoplasms by Histologic Type 4778
        Complex and Mixed Neoplasms 136
          rhabdoid cancer 7
            atypical teratoid rhabdoid tumor 4
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Urogenital Diseases 4386
        urinary system disease 2155
          kidney disease 1936
            Kidney Neoplasms 439
              kidney cancer 410
                childhood kidney cancer 7
                  rhabdoid cancer 7
                    atypical teratoid rhabdoid tumor 4
paths to the root