Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  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



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
ISS
CTD Direct Evidence: marker/mechanism
OMIM:217700
ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of cornea | ClinVar Annotator: match by term: Congenital hereditary endothelial dystrophy of the cornea
OMIM
CTD
MouseDO
ClinVar
PMID:9536098 PMID:16199547 PMID:16767101 PMID:16825429 PMID:17220209 More... NCBI chr 3:117,900,223...117,912,787
Ensembl chr 3:117,900,223...117,912,674
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    physical disorder 4940
      congenital hereditary endothelial dystrophy of cornea 1
Path 2
Term Annotations click to browse term
  disease 21142
    Pathological Conditions, Signs and Symptoms 13286
      Signs and Symptoms 10764
        Neurologic Manifestations 9994
          sensory system disease 6892
            eye disease 3450
              Hereditary Eye Diseases 1085
                corneal dystrophy 51
                  corneal endothelial dystrophy 10
                    congenital hereditary endothelial dystrophy of cornea 1
paths to the root