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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital hereditary endothelial dystrophy of cornea
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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
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congenital hereditary endothelial dystrophy of cornea term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ovol2 ovo-like zinc finger 2 JBrowse link 3 138,433,990 138,464,511 RGD:8554872
G Slc4a11 solute carrier family 4 member 11 JBrowse link 3 123,224,242 123,236,535 RGD:7240710
RGD:8554872
G Vsx1 visual system homeobox 1 JBrowse link 3 146,484,235 146,494,757 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal recessive disease 1981
                congenital hereditary endothelial dystrophy of cornea 3
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          eye and adnexa disease 2242
            eye disease 2242
              corneal disease 172
                corneal dystrophy 40
                  corneal endothelial dystrophy 12
                    congenital hereditary endothelial dystrophy of cornea 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.