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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: 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 chr15:28,346,449...28,361,627
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 3:89,842,393...89,874,577
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 chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO RGD PMID:20198298 RGD:8554855 NCBI chr 2:120,236,328...120,290,673
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 2:195,649,845...195,655,402
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 chr14:32,217,871...32,261,018
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 chr18:58,758,703...58,758,787 JBrowse link
G Mmp2 matrix metallopeptidase 2 disease_progression ISO RGD PMID:19420332 RGD:8657043 NCBI chr19:14,154,657...14,182,870
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 3:153,684,158...153,692,118
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 4:146,474,701...146,481,959
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 chr10:91,590,521...91,652,279
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 chr10:54,300,070...54,311,525
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 9:14,955,300...14,970,641
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 chr16:37,712,251...37,827,845
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 3:141,814,012...141,881,526
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 8:45,116,763...45,193,320
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 7:129,980,744...130,022,088
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 21128
    sensory system disease 6939
      eye disease 3475
        corneal disease 233
          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 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        Neurologic Manifestations 10040
          sensory system disease 6939
            eye disease 3475
              corneal disease 233
                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