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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:corneal dystrophy, Fuchs endothelial, 4
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Accession:EFO:MONDO:0013204 term browser browse the term
Definition:Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the SLC4A11 gene.
Synonyms:exact_synonym: Fuchs' endothelial dystrophy caused by mutation in SLC4A11;   SLC4A11 Fuchs' endothelial dystrophy;   corneal dystrophy, Fuchs endothelial, type 4
 related_synonym: FECD4;   corneal dystrophy, Fuchs endothelial, late-onset
 alt_id: MONDO:0013204
 xref: GARD:18219;   MEDGEN:413309;   MESH:C567677;   MIM:613268;   UMLS:C2750450


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            Fuchs' endothelial dystrophy 0
              corneal dystrophy, Fuchs endothelial, 4 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          head and neck disorder 0
            disease of orbital region 0
              eye disease 0
                corneal disease 0
                  corneal dystrophy 0
                    posterior corneal dystrophy 0
                      Fuchs' endothelial dystrophy 0
                        corneal dystrophy, Fuchs endothelial, 4 0
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