Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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:pterygium
go back to main search page
Accession:DOID:0002116 term browser browse the term
Definition:A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation. (DO)
Synonyms:exact_synonym: pterygiums;   surfer's eye
 primary_id: MESH:D011625
 xref: EFO:0000678;   NCI:C133744


show annotations for term's descendants           Sort by:
pterygium term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bcl2l2 Bcl2-like 2 IEP RNA:increased expression:conjunctiva RGD PMID:27415790 RGD:14394423 NCBI chr15:32,326,686...32,337,834
Ensembl chr15:28,356,807...28,361,624 		JBrowse link
G Cat catalase ISO protein:increased activity:conjunctiva RGD PMID:18987486 RGD:9068921 NCBI chr 3:110,297,340...110,329,526
Ensembl chr 3:89,842,399...89,874,478 		JBrowse link
G Eln elastin ISO protein:increased expression:conjunctiva: RGD PMID:11021831 RGD:9585733 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:20198298 RGD:8554855 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 onset ISO DNA:deletion:cds (human) RGD PMID:15273656 RGD:7488957 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Kdr kinase insert domain receptor disease_progression ISO protein:increased expression:conjunctiva:
mRNA,protein:decreased expression:conjunctiva:		 RGD PMID:23376569 PMID:15885787 RGD:8549754, RGD:8549762 NCBI chr14:32,572,031...32,615,204
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Mir122 microRNA 122 IEP RNA:decreased expression:conjunctiva RGD PMID:27415790 RGD:14394423 NCBI chr18:61,028,817...61,028,901 JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO RGD PMID:19420332 RGD:8657043 NCBI chr19:30,327,643...30,355,856
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:19420332 RGD:8657043 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase susceptibility ISO DNA:missense mutation:exon:p.S326C (1245C>G, rs1052133) (human) RGD PMID:14716324 RGD:8657375 NCBI chr 4:148,030,237...148,037,599
Ensembl chr 4:146,474,750...146,484,766 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:conjunctiva (human) RGD PMID:21892527 RGD:6771360 NCBI chr10:92,090,263...92,152,002
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Tp53 tumor protein p53 ISO protein:altered expression:pterygia: RGD PMID:19065760 RGD:8547760 NCBI chr10:54,798,871...54,810,300
Ensembl chr10:54,300,048...54,311,524 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:conjunctiva: RGD PMID:15885787 RGD:8549762 NCBI chr 9:22,452,854...22,468,194
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
G Vegfc vascular endothelial growth factor C ISO mRNA:increased expression:bulbar conjunctiva: RGD PMID:22801834 RGD:8548457 NCBI chr16:44,445,293...44,560,887
Ensembl chr16:37,712,262...37,827,848 		JBrowse link
Rubinstein Taybi like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:16412590 PMID:30806792 NCBI chr 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538 		JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 8:54,013,547...54,089,219
Ensembl chr 8:45,118,814...45,193,181 		JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 7:131,859,696...131,901,032
Ensembl chr 7:129,962,887...130,020,325 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7383
      eye disease 3731
        corneal disease 239
          pterygium 17
            Haspeslagh Fryns Muelenaere Syndrome 0
            Khalifa Graham Syndrome 0
            Powell Chandra Saal Syndrome 0
            Pterygium Of Conjunctiva And Cornea 0
            Rubinstein Taybi like Syndrome 3
            Thompson Baraitser Syndrome 0
            conjunctival pterygium + 0
            double pterygium 0
            fetal akinesia deformation sequence syndrome X-linked 0
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            eye disease 3731
              corneal disease 239
                pterygium 17
                  Haspeslagh Fryns Muelenaere Syndrome 0
                  Khalifa Graham Syndrome 0
                  Powell Chandra Saal Syndrome 0
                  Pterygium Of Conjunctiva And Cornea 0
                  Rubinstein Taybi like Syndrome 3
                  Thompson Baraitser Syndrome 0
                  conjunctival pterygium + 0
                  double pterygium 0
                  fetal akinesia deformation sequence syndrome X-linked 0
paths to the root