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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:mature teratoma
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Accession:DOID:5566 term browser browse the term
Definition:A teratoma that is composed exclusively of mature tissues derived from two or three germ layers. (DO)
Synonyms:primary_id: RDO:9004026
 xref: NCI:C9015
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
dermoid cyst of ovary term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxo3 forkhead box O3 IEA OMIM:166950 MouseDO NCBI chr10:42,181,845...42,276,695
Ensembl chr10:42,181,841...42,276,755
JBrowse link
oculoectodermal syndrome term browser
Symbol Object Name 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 chr16:3,907,194...3,942,299
Ensembl chr16:3,908,801...3,941,147
JBrowse link
G Kras Kirsten rat sarcoma viral oncogene homolog 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 6:145,216,699...145,250,420
Ensembl chr 6:145,216,699...145,250,239
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 7:23,385,889...23,441,923
Ensembl chr 7:23,385,889...23,441,922
JBrowse link
ring dermoid of cornea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain transcription factor 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 3:129,199,878...129,219,594
Ensembl chr 3:129,199,878...129,219,591
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14541
    disease of cellular proliferation 6905
      Neoplasms by Histologic Type 4754
        Germ Cell and Embryonal Neoplasms 764
          germ cell and embryonal cancer 43
            teratoma 22
              mature teratoma 5
                benign pericardial teratoma 0
                central nervous system immature teratoma + 0
                central nervous system mature teratoma + 0
                dermoid cyst + 5
                mature gastric teratoma 0
                mature teratoma of the ovary + 0
                pineal region mature teratoma 0
Path 2
Term Annotations click to browse term
  disease 14541
    disease of cellular proliferation 6905
      cancer 4983
        cell type cancer 3417
          sarcoma 244
            germ cell and embryonal cancer 43
              teratoma 22
                mature teratoma 5
                  benign pericardial teratoma 0
                  central nervous system immature teratoma + 0
                  central nervous system mature teratoma + 0
                  dermoid cyst + 5
                  mature gastric teratoma 0
                  mature teratoma of the ovary + 0
                  pineal region mature teratoma 0
paths to the root