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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:germ cell benign neoplasm
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Accession:DOID:0080601 term browser browse the term
Definition:A benign neoplasm that derives_from germ cells. (DO)



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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 chr20:47,251,968...47,348,254
Ensembl chr20:47,255,878...47,346,845
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 chr10:12,094,346...12,159,440
Ensembl chr10:12,094,346...12,131,693
JBrowse link
G Kras KRAS proto-oncogene, GTPase ISO 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 chr 4:179,916,255...179,949,613
Ensembl chr 4:179,919,802...179,949,320
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 1:76,811,044...76,872,964
Ensembl chr 1:76,810,108...77,077,580
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:21052876 PMID:22224469 PMID:22569110 More... NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of cellular proliferation 5586
      benign neoplasm 1215
        cell type benign neoplasm 971
          germ cell benign neoplasm 5
            benign teratoma + 5
paths to the root