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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 PITX2 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:180550
ClinVar Annotator: match by term: Ring dermoid of cornea
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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    sensory system disease 5611
      eye disease 2733
        corneal disease 201
          ring dermoid of cornea 1
Path 2
Term Annotations click to browse term
  disease 17205
    disease of cellular proliferation 7034
      cancer 4989
        cell type cancer 3396
          sarcoma 244
            germ cell and embryonal cancer 45
              teratoma 21
                mature teratoma 5
                  dermoid cyst 5
                    ring dermoid of cornea 1
paths to the root