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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 16023
    sensory system disease 5231
      eye disease 2664
        corneal disease 189
          corneal dystrophy 44
            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 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            Hereditary Eye Diseases 580
              corneal dystrophy 44
                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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.