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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:xref: ICDO:9080/0;   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 ISS OMIM:166950 MouseDO NCBI chr 6:108,559,825...108,684,774
Ensembl chr 6:108,559,835...108,684,774 		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 IAGP ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:26820066 NCBI chr16:3,495,427...3,539,048
Ensembl chr16:3,500,976...3,539,048 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP ClinVar Annotator: match by term: Aplasia cutis congenita with epibulbar dermoids
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC		 OMIM
ClinVar		 PMID:1875403 PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 More... NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G NLRP5 NLR family pyrin domain containing 5 IAGP ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome ClinVar PMID:20738330 PMID:26323243 NCBI chr19:55,999,726...56,061,810
Ensembl chr19:55,999,726...56,061,810 		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 IAGP
EXP		 ClinVar Annotator: match by term: Ring dermoid of cornea
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:15378534 PMID:15591271 PMID:21052876 PMID:22224469 PMID:22569110 More... NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 145369
    disease of cellular proliferation 26421
      Neoplasms by Histologic Type 19595
        Germ Cell and Embryonal Neoplasms 1460
          germ cell and embryonal cancer 71
            teratoma 46
              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 145369
    disease of cellular proliferation 26421
      cancer 21895
        cell type cancer 14150
          sarcoma 313
            germ cell and embryonal cancer 71
              teratoma 46
                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