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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:corneal degeneration
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Accession:DOID:1237 term browser browse the term
Synonyms:xref: ICD10CM:H18.4;   ICD9CM:371.4
For additional species annotation, visit the Alliance of Genome Resources.


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show annotations for term's descendants           Sort by:
arcus senilis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KERA keratocan ISO autosomal recessive cornea plana, OMIM:217300 DNA:point_mutation:CDS:amino acid N247S RGD PMID:10802664 RGD:1600335 NCBI chr11:86,467,315...86,475,217
Ensembl chr11:86,468,181...86,473,097
JBrowse link
keratomalacia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBP4 retinol binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9888420 NCBI chr 9:86,831,042...86,840,668
Ensembl chr 9:86,830,957...86,840,250
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15415
    sensory system disease 6934
      eye disease 3571
        corneal disease 224
          corneal degeneration 2
            arcus senilis 1
            band keratopathy 0
            keratomalacia 1
            nodular degeneration of cornea 0
            peripheral degeneration of cornea 0
            phthisical cornea 0
            recurrent corneal erosion 0
Path 2
Term Annotations click to browse term
  disease 15415
    Pathological Conditions, Signs and Symptoms 12061
      Signs and Symptoms 10141
        Neurologic Manifestations 9818
          sensory system disease 6934
            eye disease 3571
              eye degenerative disease 888
                corneal degeneration 2
                  arcus senilis 1
                  band keratopathy 0
                  keratomalacia 1
                  nodular degeneration of cornea 0
                  peripheral degeneration of cornea 0
                  phthisical cornea 0
                  recurrent corneal erosion 0
paths to the root