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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 ClinVar Annotator: match by term: Map-dot-fingerprint dystrophy of cornea
ClinVar Annotator: match by OMIM:121820
OMIM
ClinVar
PMID:16652336, PMID:19337156, PMID:25525159 NCBI chr13:56,609,586...56,639,359
Ensembl chr13:56,609,523...56,639,562
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 ISO ClinVar Annotator: match by term: Epithelial recurrent erosion dystrophy ClinVar
OMIM
PMID:2663347, PMID:14562173, PMID:19710953, PMID:25676728, PMID:26786512, PMID:27309958 NCBI chr19:47,646,341...47,692,042
Ensembl chr19:47,646,344...47,692,094
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 chr14:65,968,483...65,981,548
Ensembl chr14:65,968,483...65,981,547
JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO ClinVar Annotator: match by term: Lattice corneal dystrophy Type III
ClinVar Annotator: match by OMIM:204870
OMIM
ClinVar
PMID:10192395, PMID:12107443, PMID:15652848, PMID:28492532 NCBI chr 6:67,534,059...67,535,822
Ensembl chr 6:67,534,062...67,535,796
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 chr11:99,415,664...99,422,593
Ensembl chr11:99,415,666...99,422,259
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 ClinVar Annotator: match by term: Meesmann corneal dystrophy 1 ClinVar
OMIM
PMID:9171831, PMID:9399908, PMID:10644419, PMID:22174841 NCBI chr11:99,415,664...99,422,593
Ensembl chr11:99,415,666...99,422,259
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13447
    sensory system disease 5060
      eye disease 2654
        corneal disease 194
          corneal dystrophy 49
            epithelial and subepithelial dystrophy 5
              Lisch epithelial corneal dystrophy 0
              Meesmann corneal dystrophy + 1
              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 13447
    disease of anatomical entity 12920
      nervous system disease 10471
        sensory system disease 5060
          eye disease 2654
            Hereditary Eye Diseases 600
              corneal dystrophy 49
                epithelial and subepithelial dystrophy 5
                  Lisch epithelial corneal dystrophy 0
                  Meesmann corneal dystrophy + 1
                  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.