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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 cancer
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Accession:DOID:3672 term browser browse the term
Definition:A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system. (DO)
Synonyms:exact_synonym: Rhabdoid sarcoma;   malignant rhabdoid tumour;   rhabdoid tumor;   rhabdoid tumors
 primary_id: MESH:D018335
 xref: EFO:0005701;   GARD:7572;   NCI:C3808;   OMIM:PS609322;   ORDO:69077
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
rhabdoid cancer term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myc MYC proto-oncogene, bHLH transcription factor ISO protein:increased expression:kidney (human) RGD PMID:20212451 RGD:7207430 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Pgbd5 piggyBac transposable element derived 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28504702 NCBI chr19:52,336,751...52,401,906
Ensembl chr19:52,336,751...52,402,397 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO DNA:nonsense mutation, deletions, insertions:multiple (human)
protein:decreased expression:brain, kidney, soft tissue:
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:25009291 PMID:26343384 PMID:9671307 PMID:16528370 RGD:1599055, RGD:155804291 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
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 Gpc3 glypican 3 ISO protein:increased expression:brain (human) RGD PMID:23530909 RGD:243065128 NCBI chr  X:131,868,986...132,236,824
Ensembl chr  X:131,868,990...132,236,798 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Familial Posterior Fossa Brain Tumor of Infancy | ClinVar Annotator: match by term: Malignant rhabdoid tumor, somatic | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome | ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 | ClinVar Annotator: match by term: Teratoid tumor, atypical
OMIM:609322		 CTD
OMIM
ClinVar
MouseDO		 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 Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		JBrowse link
G Tp53 tumor protein p53 ISO ClinVar Annotator: match by term: Atypical teratoid/rhabdoid tumor ClinVar PMID:1565143 PMID:1591732 PMID:2046748 PMID:4122735 PMID:7565304 More... NCBI chr10:54,300,070...54,311,525
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
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 ClinVar Annotator: match by term: Rhabdoid tumor predisposition syndrome 2
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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 18976
    disease of cellular proliferation 7746
      Neoplasms by Histologic Type 5353
        Complex and Mixed Neoplasms 359
          rhabdoid cancer 9
            Rhabdoid Tumor Predisposition Syndrome 2 2
            Smarca4-deficient sarcoma of thorax 0
            Typical Teratoid Rhabdoid Tumor 0
            atypical teratoid rhabdoid tumor 6
            kidney rhabdoid cancer 0
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      Urogenital Diseases 5234
        Urogenital Neoplasms 2194
          Urologic Neoplasms 734
            urinary system cancer 680
              kidney cancer 482
                childhood kidney cancer 9
                  rhabdoid cancer 9
                    Rhabdoid Tumor Predisposition Syndrome 2 2
                    Smarca4-deficient sarcoma of thorax 0
                    Typical Teratoid Rhabdoid Tumor 0
                    atypical teratoid rhabdoid tumor 6
                    kidney rhabdoid cancer 0
paths to the root