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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.



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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 chr20:45,669,708...45,764,606
Ensembl chr20:45,672,995...45,764,561
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: Toriello-Lacassie-Droste 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: Aplasia cutis congenita with epibulbar dermoids | ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC | ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome OMIM
ClinVar
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: Toriello-Lacassie-Droste syndrome ClinVar PMID:20738330 PMID:26323243 NCBI chr 1:67,778,037...67,810,941
Ensembl chr 1:67,777,948...68,023,736
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 ClinVar Annotator: match by term: Ring dermoid of cornea
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:15378534 PMID:15591271 PMID:22569110 PMID:25741868 PMID:26220699 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 19099
    disease of cellular proliferation 7914
      Neoplasms by Histologic Type 5403
        Germ Cell and Embryonal Neoplasms 581
          germ cell and embryonal cancer 71
            teratoma 45
              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 19099
    disease of cellular proliferation 7914
      cancer 5769
        cell type cancer 3842
          sarcoma 285
            germ cell and embryonal cancer 71
              teratoma 45
                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