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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.



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 chr 5:91,794,317...91,802,362
Ensembl chr 5:91,796,324...91,802,468
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 chr14:105,037,360...105,044,552
Ensembl chr14:105,037,464...105,044,765
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15430
    sensory system disease 6942
      eye disease 3571
        corneal disease 231
          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 15430
    Pathological Conditions, Signs and Symptoms 12091
      Signs and Symptoms 10145
        Neurologic Manifestations 9826
          sensory system disease 6942
            eye disease 3571
              eye degenerative disease 904
                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