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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:gelatinous drop-like corneal dystrophy
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Accession:DOID:0060449 term browser browse the term
Definition:An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. (DO)
Synonyms:exact_synonym: CDGDL;   Corneal amyloidosis;   GDCD;   GDLD;   amyloid corneal dystrophy, Japanese type;   lattice corneal dystrophy type III;   lattice corneal dystrophy type3;   lattice corneal dystrophy, type 3;   primary familial amyloidosis of the cornea;   subepithelial amyloidosis of the cornea
 primary_id: MESH:C535480
 alt_id: OMIM:204870
 xref: NCI:C142805;   ORDO:98957
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:204870
ClinVar Annotator: match by term: Lattice corneal dystrophy Type III		 OMIM
ClinVar		 PMID:10192395 PMID:12107443 PMID:15652848 PMID:28492532 NCBI chr 4:96,707,950...96,709,650
Ensembl chr 4:96,707,951...96,709,650 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    sensory system disease 5680
      eye disease 2766
        Hereditary Eye Diseases 638
          corneal dystrophy 41
            epithelial and subepithelial dystrophy 5
              gelatinous drop-like corneal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        sensory system disease 5680
          eye disease 2766
            corneal disease 197
              corneal dystrophy 41
                epithelial-stromal TGFBI dystrophy 5
                  lattice corneal dystrophy 4
                    gelatinous drop-like corneal dystrophy 2
paths to the root