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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:
 
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 chr16:2,423,563...2,461,486
Ensembl chr16:3,600,370...3,637,622
JBrowse link
G KRAS KRAS proto-oncogene, GTPase ISO OMIM NCBI chr12:61,062,689...61,108,524
Ensembl chr12:63,679,293...63,724,335
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 chr19:53,021,034...53,083,590
Ensembl chr19:61,818,345...61,879,538
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 2 ISO OMIM NCBI chr 4:103,112,624...103,137,356 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13867
    disease of cellular proliferation 6620
      Neoplasms by Histologic Type 4552
        Germ Cell and Embryonal Neoplasms 730
          germ cell and embryonal cancer 40
            teratoma 18
              mature teratoma 4
                benign pericardial teratoma 0
                central nervous system immature teratoma + 0
                central nervous system mature teratoma + 0
                dermoid cyst + 4
                mature gastric teratoma 0
                mature teratoma of the ovary + 0
                pineal region mature teratoma 0
Path 2
Term Annotations click to browse term
  disease 13867
    disease of cellular proliferation 6620
      cancer 4777
        cell type cancer 3257
          sarcoma 230
            germ cell and embryonal cancer 40
              teratoma 18
                mature teratoma 4
                  benign pericardial teratoma 0
                  central nervous system immature teratoma + 0
                  central nervous system mature teratoma + 0
                  dermoid cyst + 4
                  mature gastric teratoma 0
                  mature teratoma of the ovary + 0
                  pineal region mature teratoma 0
paths to the root