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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:epithelial-stromal TGFBI dystrophy
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Accession:DOID:0060441 term browser browse the term
Definition:A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. (DO)
Synonyms:primary_id: RDO:9004323
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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: Meretoja syndrome
ClinVar Annotator: match by OMIM:105120
OMIM
ClinVar
PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1652889 PMID:1658654 PMID:1848334 PMID:2153578 PMID:2175344 PMID:2176481 PMID:2176550 PMID:4543600 PMID:6610849 PMID:6975851 PMID:7550233 PMID:7868127 PMID:8388189 PMID:11754099 PMID:25741868 PMID:28492532 NCBI chr 3:14,456,106...14,508,922
Ensembl chr 3:14,467,330...14,508,911
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 chr15:42,626,612...42,665,858
Ensembl chr15:42,640,146...42,665,857
JBrowse link
G Tacstd2 tumor-associated calcium signal transducer 2 ISO ClinVar Annotator: match by term: Lattice corneal dystrophy Type III
ClinVar Annotator: match by OMIM:204870
OMIM
ClinVar
PMID:10192395 PMID:12107443 PMID:15652848 PMID:28492532 NCBI chr 4:98,341,187...98,342,887
Ensembl chr 4:98,341,188...98,342,887
JBrowse link
granular corneal dystrophy 1 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 OMIM:121900 OMIM
ClinVar
PMID:9054935 PMID:9727509 PMID:11923233 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
granular corneal dystrophy 2 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: Avellino corneal dystrophy
ClinVar Annotator: match by term: GRANULAR CORNEAL DYSTROPHY, TYPE II
ClinVar Annotator: match by OMIM:607541
OMIM
ClinVar
PMID:9054935 PMID:9780098 PMID:9930165 PMID:15059726 PMID:16606891 PMID:25741868 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
lattice corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tgfbi transforming growth factor, beta induced ISS OMIM:122200 MouseDO NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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 ClinVar Annotator: match by OMIM:122200 OMIM
ClinVar
PMID:9054935 PMID:9559741 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
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: Lattice corneal dystrophy type 3A OMIM
ClinVar
PMID:9497262 PMID:11004271 PMID:11024425 PMID:11923233 PMID:12400061 PMID:15790870 PMID:16809844 PMID:19337156 PMID:21462384 PMID:23884333 PMID:25741868 PMID:26748743 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
Reis-Bucklers corneal dystrophy 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 OMIM:608470 OMIM
ClinVar
PMID:9780098 PMID:9930165 PMID:10660331 PMID:11146721 PMID:15885785 PMID:16606891 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link
Thiel-Behnke corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbcd tubulin folding cofactor D ISO ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy ClinVar PMID:25741868 NCBI chr10:110,643,693...110,800,493
Ensembl chr10:110,643,759...110,800,493
JBrowse link
G Tgfbi transforming growth factor, beta induced ISO ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy
ClinVar Annotator: match by OMIM:602082
OMIM
ClinVar
PMID:9054935 PMID:9780098 PMID:11923233 PMID:22355247 PMID:25741868 NCBI chr17:8,400,123...8,429,338
Ensembl chr17:8,400,146...8,429,338
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    sensory system disease 5238
      eye disease 2637
        corneal disease 198
          corneal dystrophy 45
            epithelial-stromal TGFBI dystrophy 5
              Reis-Bucklers corneal dystrophy 1
              Thiel-Behnke corneal dystrophy 2
              granular corneal dystrophy + 1
              lattice corneal dystrophy + 4
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        sensory system disease 5238
          eye disease 2637
            Hereditary Eye Diseases 600
              corneal dystrophy 45
                epithelial-stromal TGFBI dystrophy 5
                  Reis-Bucklers corneal dystrophy 1
                  Thiel-Behnke corneal dystrophy 2
                  granular corneal dystrophy + 1
                  lattice corneal dystrophy + 4
paths to the root