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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 C14orf39 chromosome 14 open reading frame 39 IAGP ClinVar Annotator: match by term: Flat cornea ClinVar NCBI chr14:60,435,956...60,515,544
Ensembl chr14:60,396,469...60,515,543
JBrowse link
G KERA keratocan ISS OMIM:121400 | OMIM:217300 MouseDO NCBI chr12:91,050,491...91,058,024
Ensembl chr12:91,050,491...91,058,024
JBrowse link
G SIX6 SIX homeobox 6 IAGP ClinVar Annotator: match by term: Flat cornea ClinVar NCBI chr14:60,509,146...60,512,850
Ensembl chr14:60,509,146...60,512,850
JBrowse link
Cornea Plana 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KERA keratocan IAGP
EXP
ClinVar Annotator: match by term: Cornea plana 2
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:10802664 PMID:11726611 PMID:11754099 PMID:15370545 PMID:16157807 More... NCBI chr12:91,050,491...91,058,024
Ensembl chr12:91,050,491...91,058,024
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 151455
    sensory system disease 27372
      eye disease 10413
        corneal disease 513
          cornea plana 3
            Cornea Plana 1 0
            Cornea Plana 2 1
Path 2
Term Annotations click to browse term
  disease 151455
    disease of anatomical entity 138485
      nervous system disease 75363
        Neurologic Manifestations 38616
          sensory system disease 27372
            eye disease 10413
              corneal disease 513
                cornea plana 3
                  Cornea Plana 1 0
                  Cornea Plana 2 1
paths to the root