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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:arcus senilis
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Accession:DOID:11342 term browser browse the term
Definition:A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera.
Synonyms:exact_synonym: Arcus Corneae;   Corneal Arcus;   arcus of cornea
 primary_id: MESH:D001112
 alt_id: MIM:107800
 xref: EFO:1000818;   ICD10CM:H18.41
For additional species annotation, visit the Alliance of Genome Resources.


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arcus senilis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KERA keratocan IAGP autosomal recessive cornea plana, OMIM:217300 DNA:point_mutation:CDS:amino acid N247S RGD PMID:10802664 RGD:1600335 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 145369
    sensory system disease 26548
      eye disease 10397
        corneal disease 513
          corneal degeneration 2
            arcus senilis 1
Path 2
Term Annotations click to browse term
  disease 145369
    disease of anatomical entity 132557
      nervous system disease 70715
        Neurologic Manifestations 37765
          sensory system disease 26548
            eye disease 10397
              eye degenerative disease 1975
                corneal degeneration 2
                  arcus senilis 1
paths to the root