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
Accession: DOID:0060441
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
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TGFBI
transforming growth factor beta induced
ISO
ClinVar Annotator: match by term: Epithelial-stromal TGFBI dystrophy
ClinVar
PMID:9054935 PMID:9463327 PMID:9559741 PMID:10798644 PMID:11923233 PMID:23559853 PMID:25741868 PMID:28492532 More...
NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366
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GSN
gelsolin
ISO
ClinVar Annotator: match by term: GSN-related condition | ClinVar Annotator: match by term: Meretoja syndrome
OMIM ClinVar
PMID:1311149 PMID:1315718 PMID:1322359 PMID:1322360 PMID:1338910 PMID:1652889 PMID:1658654 PMID:1849145 PMID:2175344 PMID:2176164 PMID:2176481 PMID:2176550 PMID:4543600 PMID:6610849 PMID:6975851 PMID:7550233 PMID:7868127 PMID:8388189 PMID:8395367 PMID:9536098 PMID:11754099 PMID:14640038 PMID:16199547 PMID:17576681 PMID:22622774 PMID:22938848 PMID:25342098 PMID:25601851 PMID:25741868 PMID:26915616 PMID:27982499 PMID:28492532 PMID:28924445 PMID:29069428 PMID:29167514 PMID:29637772 PMID:30625383 PMID:31243148 PMID:33499149 PMID:33598831 PMID:33973672 More...
NCBI chr 1:261,295,711...261,372,848
Ensembl chr 1:261,307,008...261,372,848
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CLU
clusterin
ISO
RGD
PMID:10502582
RGD:8699502
NCBI chr14:11,336,585...11,352,569
Ensembl chr14:11,336,595...11,349,764
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TACSTD2
tumor associated calcium signal transducer 2
ISO
ClinVar Annotator: match by term: Lattice corneal dystrophy Type III
OMIM ClinVar
PMID:10192395 PMID:12107443 PMID:15652848 PMID:17167402 PMID:25741868 PMID:28492532 More...
NCBI chr 6:153,859,488...153,861,508
Ensembl chr 6:153,859,482...153,861,492
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TGFBI
transforming growth factor beta induced
ISO
ClinVar Annotator: match by term: Granular corneal dystrophy
ClinVar
NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366
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TGFBI
transforming growth factor beta induced
ISO
ClinVar Annotator: match by term: Groenouw corneal dystrophy type I
OMIM ClinVar
PMID:1264234 PMID:9054935 PMID:9727509 PMID:11923233 PMID:21135107 PMID:21264234 PMID:22355247 PMID:23559853 PMID:25741868 PMID:28492532 More...
NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366
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TGFBI
transforming growth factor beta induced
ISO
ClinVar Annotator: match by term: Avellino corneal dystrophy | ClinVar Annotator: match by term: Granular corneal dystrophy type 2
OMIM ClinVar
PMID:9054935 PMID:9780098 PMID:9930165 PMID:10798644 PMID:11923233 PMID:15059726 PMID:16606891 PMID:23559853 PMID:25741868 PMID:26197481 PMID:28492532 PMID:34097874 More...
NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366
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TGFBI
transforming growth factor beta induced
ISO
ClinVar Annotator: match by term: Lattice corneal dystrophy Type I
OMIM ClinVar
PMID:1264234 PMID:9054935 PMID:9463327 PMID:9559741 PMID:9727509 PMID:10798644 PMID:11923233 PMID:15059726 PMID:21135107 PMID:21264234 PMID:22355247 PMID:23559853 PMID:25741868 PMID:26197481 PMID:28492532 PMID:34097874 More...
NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366
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TGFBI
transforming growth factor beta induced
ISO
ClinVar Annotator: match by term: Corneal dystrophy, lattice type 3A
OMIM ClinVar
PMID:1264234 PMID:9054935 PMID:9497262 PMID:9727509 PMID:10832717 PMID:11004271 PMID:11024425 PMID:11923233 PMID:12400061 PMID:15790870 PMID:16809844 PMID:19337156 PMID:21135107 PMID:21264234 PMID:21462384 PMID:22355247 PMID:23559853 PMID:23884333 PMID:25741868 PMID:26748743 PMID:28492532 More...
NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366
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TGFBI
transforming growth factor beta induced
ISO
ClinVar Annotator: match by term: GRANULAR CORNEAL DYSTROPHY, TYPE III | ClinVar Annotator: match by term: Reis Bucklers dystrophy
OMIM ClinVar
PMID:9780098 PMID:9930165 PMID:10660331 PMID:10798644 PMID:11146721 PMID:11923233 PMID:15885785 PMID:16606891 PMID:23559853 PMID:25741868 PMID:28492532 More...
NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366
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TBCD
tubulin folding cofactor D
ISO
ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy
ClinVar
PMID:25741868 PMID:28492532
NCBI chr12:327,009...449,375
Ensembl chr12:329,714...449,556
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TGFBI
transforming growth factor beta induced
ISO
ClinVar Annotator: match by term: Thiel-Behnke corneal dystrophy
OMIM ClinVar
PMID:9054935 PMID:9780098 PMID:11923233 PMID:21135107 PMID:22355247 PMID:25741868 PMID:28492532 More...
NCBI chr 2:138,191,793...138,225,373
Ensembl chr 2:138,191,807...138,225,366
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all