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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:stromal dystrophy
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Accession:DOID:0060442 term browser browse the term
Definition:A corneal dystrophy that affects the corneal stroma. (DO)
Synonyms:primary_id: RDO:9004324
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
congenital stromal corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dcn decorin ISO ClinVar Annotator: match by term: Congenital Stromal Corneal Dystrophy
ClinVar Annotator: match by OMIM:610048
OMIM
ClinVar
PMID:5304426 PMID:11805522 PMID:15671264 PMID:16935612 PMID:21993463 PMID:24413633 PMID:28492532 NCBI chr 7:38,742,250...38,782,282
Ensembl chr 7:38,742,051...38,782,323
JBrowse link
Fleck corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pikfyve phosphoinositide kinase, FYVE-type zinc finger containing ISO ClinVar Annotator: match by term: Fleck corneal dystrophy
ClinVar Annotator: match by OMIM:121850
OMIM
ClinVar
PMID:15902656 PMID:18558518 PMID:23288988 PMID:25741868 PMID:26396486 PMID:28492532 NCBI chr 9:71,911,744...72,005,816
Ensembl chr 9:71,915,421...72,005,838
JBrowse link
macular corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst5 carbohydrate sulfotransferase 5 ISO ClinVar Annotator: match by OMIM:217800
ClinVar Annotator: match by term: Macular corneal dystrophy Type I
OMIM
ClinVar
PMID:11017086 PMID:11278593 PMID:11818380 PMID:12824236 PMID:12882775 PMID:14984470 PMID:15013869 PMID:15652851 PMID:15953452 PMID:16207214 PMID:16568029 PMID:17093400 PMID:17962390 PMID:18500531 PMID:19204788 PMID:19337156 PMID:19365571 PMID:19710953 PMID:20539220 PMID:24033266 PMID:24926691 PMID:25081284 PMID:25741868 PMID:26604660 PMID:28492532 NCBI chr19:44,115,065...44,136,092
Ensembl chr19:44,115,120...44,135,387
JBrowse link
Schnyder corneal dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mtor mechanistic target of rapamycin kinase ISO ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy ClinVar NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
JBrowse link
G Ubiad1 UbiA prenyltransferase domain containing 1 ISO ClinVar Annotator: match by term: Schnyder crystalline corneal dystrophy
ClinVar Annotator: match by OMIM:121800
OMIM
ClinVar
PMID:3486394 PMID:8190477 PMID:9450854 PMID:15034782 PMID:17668063 PMID:17962451 PMID:18176953 PMID:20505825 PMID:23169578 PMID:23564352 NCBI chr 5:165,247,630...165,259,228
Ensembl chr 5:165,247,133...165,259,224
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
            stromal dystrophy 5
              Central Cloudy Dystrophy of Francois 0
              Fleck corneal dystrophy 1
              Schnyder corneal dystrophy 2
              congenital stromal corneal dystrophy 1
              macular corneal dystrophy 1
              posterior amorphous corneal dystrophy 0
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
                stromal dystrophy 5
                  Central Cloudy Dystrophy of Francois 0
                  Fleck corneal dystrophy 1
                  Schnyder corneal dystrophy 2
                  congenital stromal corneal dystrophy 1
                  macular corneal dystrophy 1
                  posterior amorphous corneal dystrophy 0
paths to the root