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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: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
For additional species annotation, visit the Alliance of Genome Resources.


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Finnish type amyloidosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gsn gelsolin ISO ClinVar Annotator: match by term: GSN-related condition | ClinVar Annotator: match by term: Meretoja syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1338910 More... NCBI chr 3:18,585,166...18,638,404
Ensembl chr 3:18,585,172...18,638,402 		JBrowse link
gelatinous drop-like corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clu clusterin ISO RGD PMID:10502582 RGD:8699502 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315 		JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lattice corneal dystrophy Type III		 OMIM
CTD
ClinVar		 PMID:10192395 PMID:12107443 PMID:15652848 PMID:17167402 PMID:25741868 More... NCBI chr 4:96,707,950...96,709,650
Ensembl chr 4:96,707,951...96,709,650 		JBrowse link
Lattice Corneal Dystrophy Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Lattice corneal dystrophy Type I		 OMIM
CTD
ClinVar		 PMID:1264234 PMID:9054935 PMID:9463327 PMID:9559741 PMID:9727509 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		JBrowse link
Lattice Corneal Dystrophy, Type IIIA term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Corneal dystrophy, lattice type 3A
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1264234 PMID:9054935 PMID:9497262 PMID:9727509 PMID:10832717 More... NCBI chr17:7,955,603...7,984,903
Ensembl chr17:7,955,603...7,985,240 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    sensory system disease 6962
      eye disease 3491
        corneal disease 235
          corneal dystrophy 52
            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
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        Neurologic Manifestations 10053
          sensory system disease 6962
            eye disease 3491
              corneal disease 235
                corneal dystrophy 52
                  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
paths to the root