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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:epithelial and subepithelial dystrophy
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Accession:DOID:0060440 term browser browse the term
Definition:A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane. (DO)
Synonyms:primary_id: RDO:9004322
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
epithelial basement membrane dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TGFBI transforming growth factor beta induced ISO OMIM NCBI chr 5:131,420,403...131,455,265
Ensembl chr 5:137,559,321...137,596,392
JBrowse link
epithelial recurrent erosion dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL17A1 collagen type XVII alpha 1 chain ISO OMIM NCBI chr10:100,630,959...100,685,715 JBrowse link
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CLU clusterin ISO RGD PMID:10502582 RGD:8699502 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523
JBrowse link
G TACSTD2 tumor associated calcium signal transducer 2 ISO OMIM NCBI chr 1:57,838,661...57,841,444
Ensembl chr 1:59,545,625...59,546,596
JBrowse link
Meesmann corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT12 keratin 12 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:16,414,985...16,423,417
Ensembl chr17:16,642,038...16,648,124
JBrowse link
Meesmann corneal dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT12 keratin 12 ISO OMIM NCBI chr17:16,414,985...16,423,417
Ensembl chr17:16,642,038...16,648,124
JBrowse link
Meesmann corneal dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100995271 keratin, type II cytoskeletal 3 ISO OMIM NCBI chr12:35,964,291...35,970,709
Ensembl chr12:36,742,373...36,748,364
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12770
    sensory system disease 4826
      eye disease 2510
        corneal disease 180
          corneal dystrophy 44
            epithelial and subepithelial dystrophy 6
              Lisch epithelial corneal dystrophy 0
              Meesmann corneal dystrophy + 2
              epithelial basement membrane dystrophy 1
              epithelial recurrent erosion dystrophy 1
              gelatinous drop-like corneal dystrophy 2
              subepithelial mucinous corneal dystrophy 0
Path 2
Term Annotations click to browse term
  disease 12770
    disease of anatomical entity 12302
      nervous system disease 10063
        sensory system disease 4826
          eye disease 2510
            Hereditary Eye Diseases 548
              corneal dystrophy 44
                epithelial and subepithelial dystrophy 6
                  Lisch epithelial corneal dystrophy 0
                  Meesmann corneal dystrophy + 2
                  epithelial basement membrane dystrophy 1
                  epithelial recurrent erosion dystrophy 1
                  gelatinous drop-like corneal dystrophy 2
                  subepithelial mucinous corneal dystrophy 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.