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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:benign teratoma
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Accession:DOID:0080602 term browser browse the term
Definition:A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. (DO)
Synonyms:exact_synonym: benign teratomas
 xref: ICDO:9080/1;   NCI:C67107

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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 ISO OMIM:166950 MouseDO NCBI chrNW_004624780:13,621,733...13,740,399
Ensembl chrNW_004624780:13,622,948...13,740,374 		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 chrNW_004624824:1,299,426...1,352,019
Ensembl chrNW_004624824:1,300,137...1,351,129 		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:1875403 PMID:2547513 PMID:3627975 PMID:7773929 PMID:8439212 More... NCBI chrNW_004624752:13,809,741...13,847,020
Ensembl chrNW_004624752:13,809,775...13,844,166 		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 OMIM
ClinVar		 PMID:15378534 PMID:15591271 PMID:21052876 PMID:22224469 PMID:22569110 More... NCBI chrNW_004624838:4,872,279...4,889,780
Ensembl chrNW_004624838:4,871,511...4,886,384 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14231
    disease of cellular proliferation 6850
      benign neoplasm 1968
        cell type benign neoplasm 1723
          germ cell benign neoplasm 4
            benign teratoma 4
              adult teratoma 0
              cystic teratoma + 4
paths to the root