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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

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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 CUNH14orf39 chromosome unknown C14orf39 homolog ISO ClinVar Annotator: match by term: Flat cornea ClinVar NCBI chrNW_004624734:40,656,054...40,701,404
Ensembl chrNW_004624734:40,656,132...40,702,148 		JBrowse link
G Kera keratocan ISO OMIM:121400 | OMIM:217300 MouseDO NCBI chrNW_004624750:15,600,857...15,608,259
Ensembl chrNW_004624750:15,600,703...15,608,320 		JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Flat cornea ClinVar NCBI chrNW_004624734:40,620,782...40,623,165
Ensembl chrNW_004624734:40,620,662...40,622,967 		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 chrNW_004624750:15,600,857...15,608,259
Ensembl chrNW_004624750:15,600,703...15,608,320 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    sensory system disease 6532
      eye disease 3379
        corneal disease 215
          cornea plana 3
            Cornea Plana 1 0
            Cornea Plana 2 1
Path 2
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      nervous system disease 12272
        Neurologic Manifestations 9178
          sensory system disease 6532
            eye disease 3379
              corneal disease 215
                cornea plana 3
                  Cornea Plana 1 0
                  Cornea Plana 2 1
paths to the root