Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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:congenital hereditary endothelial dystrophy of cornea
go back to main search page
Accession:DOID:0060649 term browser browse the term
Definition:A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. (DO)
Synonyms:exact_synonym: CHED;   CHED2;   congenital hereditary endothelial dystrophy of the cornea;   corneal dystrophy, congenital hereditary endothelial;   corneal endothelial dystrophy 2;   corneal endothelial dystrophy 2, autosomal recessive;   corneal endothelial dystrophy type 2
 primary_id: MESH:C536439
 alt_id: OMIM:217700;   RDO:0002031
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    sensory system disease 5162
      eye disease 2593
        corneal disease 184
          corneal dystrophy 44
            corneal endothelial dystrophy 10
              congenital hereditary endothelial dystrophy of cornea 2
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        sensory system disease 5162
          eye disease 2593
            corneal disease 184
              corneal dystrophy 44
                corneal endothelial dystrophy 10
                  congenital hereditary endothelial dystrophy of cornea 2
paths to the root

NHLBI Logo

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