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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 chr13:65,175,764...65,303,107
Ensembl chr13:65,195,376...65,301,725 		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 chr 5:3,196,257...3,236,912 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:2547513 PMID:3627975 PMID:7773929 PMID:8439212 PMID:8456858 More... NCBI chr11:24,963,396...25,010,747
Ensembl chr11:24,973,619...25,005,191 		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 6:48,589,792...48,653,181
Ensembl chr 6:48,600,935...48,652,860 		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:22569110 PMID:25741868 PMID:26220699 More... NCBI chr 7:58,501,669...58,526,413
Ensembl chr 7:58,501,559...58,507,318 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15412
    disease of cellular proliferation 7316
      benign neoplasm 2091
        cell type benign neoplasm 1839
          germ cell benign neoplasm 5
            benign teratoma 5
              adult teratoma 0
              cystic teratoma + 5
paths to the root