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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)
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: Oculoectodermal 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: Oculoectodermal syndrome
ClinVar Annotator: match by term: OCULOECTODERMAL SYNDROME, SOMATIC
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar
OMIM
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: Oculoectodermal syndrome
ClinVar Annotator: match by term: Toriello-Lacassie-Droste syndrome
ClinVar PMID:20738330 PMID:26323243 NCBI chr 1:67,778,037...67,810,946
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
ClinVar Annotator: match by OMIM:180550
OMIM
ClinVar
PMID:15378534 PMID:15591271 PMID:25741868 PMID:26220699 PMID:28166811 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 17256
    disease of cellular proliferation 7051
      benign neoplasm 1938
        cell type benign neoplasm 1751
          germ cell benign neoplasm 5
            benign teratoma + 5
paths to the root