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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 2:138,191,793...138,225,373
Ensembl chr 2:138,191,804...138,225,366
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 chr14:114,959,404...115,007,734
Ensembl chr14:114,959,408...115,064,783
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 chr14:11,336,585...11,352,569
Ensembl chr14:11,336,590...11,352,475
JBrowse link
G TACSTD2 tumor associated calcium signal transducer 2 ISO OMIM NCBI chr 6:153,859,488...153,861,508
Ensembl chr 6:153,859,482...153,861,492
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 chr12:21,600,163...21,607,268
Ensembl chr12:21,599,563...21,607,040
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 chr12:21,600,163...21,607,268
Ensembl chr12:21,599,563...21,607,040
JBrowse link
Meesmann corneal dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT3 keratin 3 ISO OMIM NCBI chr 5:18,075,881...18,082,119
Ensembl chr 5:18,075,860...18,082,196
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12641
    sensory system disease 4799
      eye disease 2511
        corneal disease 182
          corneal dystrophy 45
            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 12641
    disease of anatomical entity 12177
      nervous system disease 9943
        sensory system disease 4799
          eye disease 2511
            Hereditary Eye Diseases 559
              corneal dystrophy 45
                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.