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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 IAGP ClinVar Annotator: match by term: CORNEAL DYSTROPHY, MICROCYSTIC
ClinVar Annotator: match by term: Map-dot-fingerprint dystrophy of cornea
ClinVar
OMIM
PMID:16652336, PMID:19337156, PMID:25525159 NCBI chr 5:136,028,988...136,063,818
Ensembl chr 5:136,028,988...136,063,818
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 IAGP ClinVar Annotator: match by term: Epithelial recurrent erosion dystrophy ClinVar
OMIM
PMID:2663347, PMID:14562173, PMID:19710953, PMID:25676728, PMID:26786512, PMID:27309958 NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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 IEP RGD PMID:10502582 RGD:8699502 NCBI chr 8:27,596,917...27,614,700
Ensembl chr 8:27,596,917...27,614,700
JBrowse link
G TACSTD2 tumor associated calcium signal transducer 2 IAGP ClinVar Annotator: match by term: Lattice corneal dystrophy Type III ClinVar
OMIM
PMID:10192395, PMID:12107443, PMID:15652848, PMID:28492532 NCBI chr 1:58,575,433...58,577,252
Ensembl chr 1:58,575,433...58,577,252
JBrowse link
Meesmann corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KRT12 keratin 12 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr17:40,861,303...40,867,223
Ensembl chr17:40,861,303...40,867,223
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 IAGP ClinVar Annotator: match by term: Meesmann corneal dystrophy 1 ClinVar
OMIM
PMID:9171831, PMID:9399908, PMID:10644419, PMID:22174841 NCBI chr17:40,861,303...40,867,223
Ensembl chr17:40,861,303...40,867,223
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 IAGP ClinVar Annotator: match by term: Meesmann corneal dystrophy 2 OMIM
ClinVar
PMID:9171831, PMID:16227835, PMID:18806880 NCBI chr12:52,789,685...52,805,735
Ensembl chr12:52,789,685...52,796,117
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18864
    sensory system disease 5735
      eye disease 3010
        corneal disease 203
          corneal dystrophy 54
            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 18864
    disease of anatomical entity 17349
      nervous system disease 13439
        sensory system disease 5735
          eye disease 3010
            Hereditary Eye Diseases 692
              corneal dystrophy 54
                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.