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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:pterygium
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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: NCI:C133744
For additional species annotation, visit the Alliance of Genome Resources.


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 chr15:33,543,774...33,549,165
Ensembl chr15:33,544,312...33,549,164
JBrowse link
G Cat catalase ISO protein:increased activity:conjunctiva RGD PMID:18987486 RGD:9068921 NCBI chr 3:93,379,872...93,412,058
Ensembl chr 3:93,379,874...93,412,058
JBrowse link
G Eln elastin ISO protein:increased expression:conjunctiva: RGD PMID:11021831 RGD:9585733 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:20198298 RGD:8554855 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Gstm1 glutathione S-transferase mu 1 onset ISO DNA:deletion:cds (human) RGD PMID:15273656 RGD:7488957 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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 chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Mir122 microRNA 122 IEP RNA:decreased expression:conjunctiva RGD PMID:27415790 RGD:14394423 NCBI chr18:60,755,285...60,755,369 JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO RGD PMID:19420332 RGD:8657043 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 disease_progression ISO RGD PMID:19420332 RGD:8657043 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 4:145,282,828...145,289,367
Ensembl chr 4:145,282,797...145,289,326
JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:conjunctiva (human) RGD PMID:21892527 RGD:6771360 NCBI chr10:94,850,971...94,913,202 JBrowse link
G Tp53 tumor protein p53 ISO protein:altered expression:pterygia: RGD PMID:19065760 RGD:8547760 NCBI chr10:56,186,299...56,198,449
Ensembl chr10:56,187,020...56,198,449
JBrowse link
G Vegfa vascular endothelial growth factor A ISO protein:increased expression:conjunctiva: RGD PMID:15885787 RGD:8549762 NCBI chr 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
JBrowse link
G Vegfc vascular endothelial growth factor C ISO mRNA:increased expression:bulbar conjunctiva: RGD PMID:22801834 RGD:8548457 NCBI chr16:40,440,371...40,555,178
Ensembl chr16:40,440,207...40,555,576
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 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
G Kmt2a lysine methyltransferase 2A ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 8:49,110,407...49,185,872
Ensembl chr 8:49,114,990...49,158,971
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Rubinstein Taybi like syndrome ClinVar PMID:30806792 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      eye disease 2673
        corneal disease 196
          pterygium 17
            Fetal Akinesia Syndrome, X-Linked 0
            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
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          eye disease 2673
            corneal disease 196
              pterygium 17
                Fetal Akinesia Syndrome, X-Linked 0
                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
paths to the root