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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 chr15:31,750,768...31,758,588
Ensembl chr15:31,670,924...31,758,871 		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 chr28:7,822,936...7,830,735
Ensembl chr28:7,822,944...7,830,750 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15758
    sensory system disease 7035
      eye disease 3622
        corneal disease 237
          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 15758
    Pathological Conditions, Signs and Symptoms 12321
      Signs and Symptoms 10316
        Neurologic Manifestations 9992
          sensory system disease 7035
            eye disease 3622
              eye degenerative disease 911
                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