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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 radus of curvature is less than 43 D. (DO)
Synonyms:exact_synonym: flat cornea
 primary_id: RDO:9004905
 xref: OMIM:PS121400;   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 Kera keratocan ISS OMIM:121400 | OMIM:217300 MouseDO NCBI chr 7:32,397,382...32,404,837
Ensembl chr 7:32,397,382...32,404,837 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10802664 PMID:11726611 PMID:11754099 PMID:15370545 PMID:16157807 More... NCBI chr 7:32,397,382...32,404,837
Ensembl chr 7:32,397,382...32,404,837 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    sensory system disease 6940
      eye disease 3477
        corneal disease 233
          cornea plana 1
            Cornea Plana 1 0
            Cornea Plana 2 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        Neurologic Manifestations 10039
          sensory system disease 6940
            eye disease 3477
              corneal disease 233
                cornea plana 1
                  Cornea Plana 1 0
                  Cornea Plana 2 1
paths to the root