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ONTOLOGY REPORT - ANNOTATIONS


Term:lattice corneal dystrophy
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Accession:DOID:8943 term browser browse the term
Definition:An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface. (DO)
Synonyms:exact_synonym: LCD
 related_synonym: familial amyloid neuropathy, Finnish type
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lattice corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:13592920
Finnish type amyloidosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gsn gelsolin JBrowse link 3 14,456,106 14,508,922 RGD:7240710
RGD:8554872
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clu clusterin JBrowse link 15 42,626,612 42,665,858 RGD:8699502
G Tacstd2 tumor-associated calcium signal transducer 2 JBrowse link 4 98,341,187 98,342,887 RGD:7240710
RGD:8554872
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tgfbi transforming growth factor, beta induced JBrowse link 17 8,400,123 8,429,338 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          Nervous System Heredodegenerative Disorders 1719
            Familial Amyloid Polyneuropathies 8
              lattice corneal dystrophy 4
                Finnish type amyloidosis 1
                Lattice Corneal Dystrophy Type 1 1
                Lattice Corneal Dystrophy, Type IIIA 1
                gelatinous drop-like corneal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        sensory system disease 4663
          eye and adnexa disease 2238
            eye disease 2238
              Hereditary Eye Diseases 505
                corneal dystrophy 40
                  epithelial-stromal TGFBI dystrophy 5
                    lattice corneal dystrophy 4
                      Finnish type amyloidosis 1
                      Lattice Corneal Dystrophy Type 1 1
                      Lattice Corneal Dystrophy, Type IIIA 1
                      gelatinous drop-like corneal dystrophy 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.