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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:corneal endothelial dystrophy
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Accession:DOID:0060443 term browser browse the term
Definition:A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. (DO)
Synonyms:exact_synonym: dystrophy of corneal endothelium;   endothelial dystrophy
 primary_id: RDO:9003253
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
corneal endothelial dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal endothelial dystrophy ClinVar PMID:16767101 PMID:16825429 PMID:17679935 PMID:18024964 PMID:18474783 PMID:23615275 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535 		JBrowse link
congenital hereditary endothelial dystrophy of cornea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO OMIM NCBI chr 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535 		JBrowse link
G Vsx1 visual system homeobox 1 ISO ClinVar Annotator: match by term: CORNEAL DYSTROPHY, CONGENITAL HEREDITARY ENDOTHELIAL ClinVar PMID:7795607 PMID:11978762 PMID:15623752 PMID:16303937 PMID:19763142 PMID:21976959 PMID:24033266 NCBI chr 3:146,484,235...146,494,757
Ensembl chr 3:146,484,238...146,491,837 		JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tcf4 transcription factor 4 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 3 OMIM
ClinVar		 PMID:18728071 PMID:25741868 NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977 		JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc4a11 solute carrier family 4 member 11 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 4
ClinVar Annotator: match by OMIM:613268		 OMIM
ClinVar		 PMID:16767101 PMID:25741868 NCBI chr 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535 		JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zeb1 zinc finger E-box binding homeobox 1 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 6
ClinVar Annotator: match by term: Corneal dystrophy, fuchs endothelial, 6
ClinVar Annotator: match by OMIM:613270		 OMIM
ClinVar		 PMID:20036349 PMID:25741868 PMID:26622166 PMID:28492532 NCBI chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914 		JBrowse link
Corneal Dystrophy, Fuchs Endothelial, 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl1 AGBL carboxypeptidase 1 ISO ClinVar Annotator: match by term: Corneal dystrophy, Fuchs endothelial, 8
ClinVar Annotator: match by OMIM:615523		 OMIM
ClinVar		 PMID:24094747 PMID:25741868 NCBI chr 1:137,798,862...138,711,126
Ensembl chr 1:137,799,185...138,711,126 		JBrowse link
Corneal Dystrophy, Fuchs' Endothelial, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col8a2 collagen type VIII alpha 2 chain ISO ClinVar Annotator: match by OMIM:136800 OMIM
ClinVar		 PMID:399801 PMID:11689488 PMID:15914606 PMID:18024822 PMID:22002996 PMID:23422828 NCBI chr 5:144,308,527...144,335,142
Ensembl chr 5:144,308,611...144,335,172 		JBrowse link
Fuchs' endothelial dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agbl1 AGBL carboxypeptidase 1 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 1:137,798,862...138,711,126
Ensembl chr 1:137,799,185...138,711,126 		JBrowse link
G C3 complement C3 ISO protein:decreased expression:aqueous humour RGD PMID:21139973 RGD:7401271 NCBI chr 9:9,721,137...9,747,084
Ensembl chr 9:9,721,105...9,747,167 		JBrowse link
G Cdkn1a cyclin-dependent kinase inhibitor 1A ISO protein:increased expression:nucleus:
mRNA,protein:increased expression:cornea,nucleus:		 RGD PMID:22956607, PMID:22956607 RGD:8661808, RGD:8661808 NCBI chr20:6,348,422...6,358,864
Ensembl chr20:6,351,458...6,358,864 		JBrowse link
G Clu clusterin ISO RGD PMID:18378577, PMID:22956607 RGD:8696020, RGD:8661808 NCBI chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857 		JBrowse link
G Col8a2 collagen type VIII alpha 2 chain ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 5:144,308,527...144,335,142
Ensembl chr 5:144,308,611...144,335,172 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 ISO DNA:missense mutations: :multiple RGD PMID:22341973 RGD:11072687 NCBI chr18:73,645,365...73,812,271
Ensembl chr18:73,645,907...73,812,271 		JBrowse link
G Slc4a11 solute carrier family 4 member 11 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr 3:123,224,242...123,236,535
Ensembl chr 3:123,224,242...123,236,535 		JBrowse link
G Tcf4 transcription factor 4 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977 		JBrowse link
G Zeb1 zinc finger E-box binding homeobox 1 ISS OMIM:136800 | OMIM:610158 | OMIM:613267 | OMIM:613268 | OMIM:613269 | OMIM:613270 | OMIM:613271 | OMIM:615523 MouseDO NCBI chr17:54,656,627...54,714,920
Ensembl chr17:54,658,463...54,714,914 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        corneal disease 198
          corneal dystrophy 45
            corneal endothelial dystrophy 10
              Fuchs' endothelial dystrophy + 9
              Iridocorneal Endothelial Syndrome + 0
              X-linked endothelial corneal dystrophy 0
              congenital hereditary endothelial dystrophy of cornea 2
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            Hereditary Eye Diseases 600
              corneal dystrophy 45
                corneal endothelial dystrophy 10
                  Fuchs' endothelial dystrophy + 9
                  Iridocorneal Endothelial Syndrome + 0
                  X-linked endothelial corneal dystrophy 0
                  congenital hereditary endothelial dystrophy of cornea 2
paths to the root