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RGD uses the Human Disease Ontology (DO, 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
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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
For additional species annotation, visit the Alliance of Genome Resources.

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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
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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital hereditary endothelial dystrophy of cornea 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            Hereditary Eye Diseases 573
              corneal dystrophy 44
                corneal endothelial dystrophy 10
                  congenital hereditary endothelial dystrophy of cornea 2
paths to the root