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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:ring dermoid of cornea
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Accession:DOID:0111548 term browser browse the term
Definition:A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. (DO)
Synonyms:exact_synonym: Bilateral, annular limbal dermoids with corneal and conjunctival extension;   RDC;   Ring dermoid syndrome
 primary_id: MESH:C535684
 alt_id: OMIM:180550
 xref: GARD:9696;   ORDO:91481


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ring dermoid of cornea		 OMIM
CTD
ClinVar		 PMID:15378534 PMID:15591271 PMID:22569110 PMID:25741868 PMID:26220699 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 21128
    disease of cellular proliferation 7667
      Cysts 299
        dermoid cyst 5
          ring dermoid of cornea 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of cellular proliferation 7667
      Neoplasms by Histologic Type 5258
        cell type cancer 3731
          germ cell cancer 123
            germ cell and embryonal cancer 72
              teratoma 47
                mature teratoma 5
                  dermoid cyst 5
                    ring dermoid of cornea 1
paths to the root