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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 chr20:46,428,078...46,519,156
Ensembl chr20:46,428,124...46,519,144
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 chr10:11,847,058...11,878,792
Ensembl chr10:11,847,102...11,878,792
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
OMIM
PMID:2278970, PMID:3122217, PMID:3627975, PMID:8456858, PMID:12460918, PMID:15696205, PMID:16361624, PMID:16434492, PMID:16618717, PMID:17332249, PMID:17384584, PMID:18316791, PMID:18794081, PMID:19018267, PMID:19075190, PMID:19114683, PMID:19255327, PMID:19679400, PMID:19773371, PMID:20921462, PMID:20921465, PMID:20978259, PMID:21063026, PMID:21228335, PMID:21398618, PMID:21975775, PMID:22392911, PMID:22407852, PMID:22734028, PMID:23182985, PMID:23406027, PMID:24033266, PMID:24558511, PMID:24740626, PMID:24836576, PMID:25157968, PMID:25251940, PMID:25808193, PMID:26623049, PMID:26970110, PMID:30891959 NCBI chr 4:179,482,562...179,515,483
Ensembl chr 4:179,486,105...179,515,558
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 1:71,452,184...71,490,915
Ensembl chr 1:71,453,798...71,486,790
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:28492532, PMID:32499604 NCBI chr 2:233,602,732...233,621,059
Ensembl chr 2:233,602,732...233,621,129
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of cellular proliferation 5917
      benign neoplasm 962
        cell type benign neoplasm 784
          germ cell benign neoplasm 5
            benign teratoma + 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.