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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 chr24:37,596,061...37,707,136
Ensembl chr24:37,626,089...37,676,361 		JBrowse link
G KERA keratocan ISO OMIM:121400 | OMIM:217300 MouseDO NCBI chr11:86,467,315...86,475,217
Ensembl chr11:86,468,181...86,473,097 		JBrowse link
G SIX6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Flat cornea ClinVar NCBI chr24:37,700,468...37,703,103
Ensembl chr24:37,700,513...37,705,814 		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 chr11:86,467,315...86,475,217
Ensembl chr11:86,468,181...86,473,097 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15420
    sensory system disease 6935
      eye disease 3575
        corneal disease 224
          cornea plana 3
            Cornea Plana 1 0
            Cornea Plana 2 1
Path 2
Term Annotations click to browse term
  disease 15420
    disease of anatomical entity 15083
      nervous system disease 13233
        Neurologic Manifestations 9829
          sensory system disease 6935
            eye disease 3575
              corneal disease 224
                cornea plana 3
                  Cornea Plana 1 0
                  Cornea Plana 2 1
paths to the root