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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:teratoma
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Accession:DOID:3307 term browser browse the term
Definition:A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. (DO)
Synonyms:exact_synonym: dysembryoma;   dysembryomas;   teratoid tumor;   teratoid tumors;   teratomas
 primary_id: MESH:D013724
 xref: NCI:C3403
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
teratoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bax BCL2 associated X, apoptosis regulator disease_progression ISO RGD PMID:17390059 RGD:2296025 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Ctnnb1 catenin beta 1 ISO RGD PMID:16822086 RGD:2298800 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111
JBrowse link
G H19 H19, imprinted maternally expressed transcript (non-protein coding) ISO RGD PMID:10521301 RGD:2306183 NCBI chr 1:197,730,698...197,733,374 JBrowse link
G Nanog Nanog homeobox severity ISO mouse gene in a rat Myocardial Infarction model;protein:decreased expression:embryonic stem cell RGD PMID:20817694 RGD:9681441 NCBI chr 4:155,943,737...155,951,116
Ensembl chr 4:155,943,737...155,951,116
JBrowse link
G Nme1 NME/NM23 nucleoside diphosphate kinase 1 ISO DNA:deletion RGD PMID:7518576 RGD:2299072 NCBI chr10:78,907,036...78,929,659
Ensembl chr10:78,906,083...78,916,408
JBrowse link
G Nme2 NME/NM23 nucleoside diphosphate kinase 2 ISO DNA:deletion RGD PMID:7518576 RGD:2299072 NCBI chr10:78,898,097...78,903,600
Ensembl chr10:78,897,770...78,903,538
JBrowse link
G Pgm1 phosphoglucomutase 1 ISO RGD PMID:5259759 RGD:2299871 NCBI chr 5:114,595,298...114,654,728
Ensembl chr 5:114,595,293...114,654,728
JBrowse link
G Pgm3 phosphoglucomutase 3 ISO RGD PMID:5259759 RGD:2299871 NCBI chr 8:87,517,931...87,536,034
Ensembl chr 8:87,517,701...87,536,022
JBrowse link
G Tdgf1 teratocarcinoma-derived growth factor 1 treatment ISO RGD PMID:20641036 RGD:11561895 NCBI chr 8:110,924,774...110,938,545
Ensembl chr 8:110,925,024...110,930,308
JBrowse link
G Tert telomerase reverse transcriptase ISO mRNA:decreased expression RGD PMID:12168080 RGD:2298558 NCBI chr 1:29,637,213...29,659,509
Ensembl chr 1:29,637,506...29,659,561
JBrowse link
G Tymp thymidine phosphorylase ISO protein:increased expression:testis RGD PMID:10886088 RGD:2293724 NCBI chr 7:120,438,768...120,444,088
Ensembl chr 7:120,438,770...120,443,874
Ensembl chr 7:120,438,770...120,443,874
JBrowse link
G Wnt2b Wnt family member 2B ISO RGD PMID:16822086 RGD:2298800 NCBI chr 2:192,454,226...192,468,599
Ensembl chr 2:192,453,824...192,470,308
JBrowse link
atypical teratoid rhabdoid tumor term browser
Symbol Object Name Qualifiers 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 term: Malignant rhabdoid tumor, somatic
ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:609322
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
dermoid cyst of ovary term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo3 forkhead box O3 ISS OMIM:166950 MouseDO NCBI chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
JBrowse link
oculoectodermal syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cluap1 clusterin associated protein 1 ISO ClinVar Annotator: match by term: Oculoectodermal syndrome ClinVar PMID:26820066 NCBI chr10:11,587,963...11,619,711
Ensembl chr10:11,588,017...11,619,711
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO ClinVar Annotator: match by term: Oculoectodermal syndrome
ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar
OMIM
PMID:2278970 PMID:2547513 PMID:3122217 PMID:3627975 PMID:8456858 More... NCBI chr 4:178,185,418...178,218,484 JBrowse link
G Nlrp5 NLR family, pyrin domain containing 5 ISO ClinVar Annotator: match by term: Oculoectodermal syndrome
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar PMID:20738330 PMID:26323243 NCBI chr 1:67,778,037...67,810,946
Ensembl chr 1:67,777,948...68,023,736
JBrowse link
ring dermoid of cornea term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Ring dermoid of cornea
ClinVar Annotator: match by OMIM:180550
OMIM
ClinVar
PMID:15378534 PMID:15591271 PMID:25741868 PMID:26220699 PMID:28166811 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of cellular proliferation 7049
      Neoplasms by Histologic Type 4773
        Germ Cell and Embryonal Neoplasms 759
          germ cell and embryonal cancer 45
            teratoma 21
              Malignant Teratocarcinosarcoma 0
              Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 0
              Sacral Agenesis Syndrome 0
              Testicular Teratoma 0
              Typical Teratoid Rhabdoid Tumor 0
              atypical teratoid rhabdoid tumor 4
              central nervous system teratoma + 0
              fallopian tube teratoma 0
              gastric teratoma + 0
              malignant teratoma + 0
              mature teratoma + 5
              mediastinum teratoma 0
              pineal region teratoma + 0
Path 2
Term Annotations click to browse term
  disease 17251
    disease of cellular proliferation 7049
      cancer 5012
        cell type cancer 3405
          sarcoma 245
            germ cell and embryonal cancer 45
              teratoma 21
                Malignant Teratocarcinosarcoma 0
                Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia 0
                Sacral Agenesis Syndrome 0
                Testicular Teratoma 0
                Typical Teratoid Rhabdoid Tumor 0
                atypical teratoid rhabdoid tumor 4
                central nervous system teratoma + 0
                fallopian tube teratoma 0
                gastric teratoma + 0
                malignant teratoma + 0
                mature teratoma + 5
                mediastinum teratoma 0
                pineal region teratoma + 0
paths to the root