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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;   TACSTD2-RELATED CONDITION;   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: MIM:204870
 xref: NCI:C142805;   ORDO:98957


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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 chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860 		JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO ClinVar Annotator: match by term: Amyloid corneal dystrophy, Japanese type | ClinVar Annotator: match by term: TACSTD2-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:10192395 PMID:12107443 PMID:15652848 PMID:17167402 PMID:25741868 More... NCBI chr 4:98,037,620...98,039,320
Ensembl chr 4:98,033,251...98,039,323 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    sensory system disease 7348
      eye disease 3565
        Hereditary Eye Diseases 1149
          corneal dystrophy 54
            epithelial and subepithelial dystrophy 6
              gelatinous drop-like corneal dystrophy 2
Path 2
Term Annotations click to browse term
  disease 19167
    Pathological Conditions, Signs and Symptoms 13667
      Signs and Symptoms 11198
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              Hereditary Eye Diseases 1149
                corneal dystrophy 54
                  epithelial-stromal TGFBI dystrophy 5
                    lattice corneal dystrophy 4
                      gelatinous drop-like corneal dystrophy 2
paths to the root