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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:cornea plana
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Accession:DOID:0060287 term browser browse the term
Definition:A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D. (DO)
Synonyms:exact_synonym: flat cornea
 xref: MIM:PS121400;   MONDO:0000733;   ORDO:53691


show annotations for term's descendants           Sort by:
cornea plana term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1H14orf39 chromosome 1 C14orf39 homolog ISO ClinVar Annotator: match by term: Flat cornea ClinVar NCBI chr 1:189,330,137...189,471,874
Ensembl chr 1:189,407,490...189,470,541 		JBrowse link
G KERA keratocan ISO OMIM:121400 | OMIM:217300 MouseDO NCBI chr 5:91,794,317...91,802,362
Ensembl chr 5:91,796,324...91,802,468 		JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Flat cornea ClinVar NCBI chr 1:189,497,807...189,503,189
Ensembl chr 1:189,497,815...189,503,500 		JBrowse link
Cornea Plana 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KERA keratocan ISO ClinVar Annotator: match by term: Cornea plana 2 OMIM
ClinVar		 PMID:10802664 PMID:11726611 PMID:11754099 PMID:15370545 PMID:16157807 More... NCBI chr 5:91,794,317...91,802,362
Ensembl chr 5:91,796,324...91,802,468 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15438
    sensory system disease 6941
      eye disease 3580
        corneal disease 231
          cornea plana 3
            Cornea Plana 1 0
            Cornea Plana 2 1
Path 2
Term Annotations click to browse term
  disease 15438
    disease of anatomical entity 15107
      nervous system disease 13257
        Neurologic Manifestations 9837
          sensory system disease 6941
            eye disease 3580
              corneal disease 231
                cornea plana 3
                  Cornea Plana 1 0
                  Cornea Plana 2 1
paths to the root