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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:exfoliation syndrome
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Accession:DOID:13641 term browser browse the term
Definition:A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures. (DO)
Synonyms:exact_synonym: Exfoliative Syndrome;   Glaucoma Capsulare;   LOXL1-RELATED CONDITION;   PEXG;   PEXS;   PSEUDOEXFOLIATION GLAUCOMA;   Pseudo Exfoliation Syndrome;   Pseudoexfoliation Of The Lens;   XFG;   XFS;   exfoliation glaucoma;   exfoliation syndromes;   exfoliative syndromes;   pseudo-exfoliation syndromes;   pseudoexfoliation syndrome;   pseudoexfoliation syndromes
 related_synonym: exfoliation syndrome, susceptibility to
 primary_id: MESH:D017889
 alt_id: MIM:177650
 xref: EFO:0004235;   ICD9CM:365.52;   NCI:C129025
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
exfoliation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acvr1 activin A receptor type 1 disease_progression ISO DNA:missense mutation:SNP:rs12997 (human) RGD PMID:32641001 RGD:329845517 NCBI chr 3:63,387,378...63,506,980
Ensembl chr 3:63,387,381...63,477,884 		JBrowse link
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr20:4,140,565...4,149,531
Ensembl chr20:4,140,565...4,150,445 		JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:15939044 RGD:7771555 NCBI chr 1:88,481,889...88,485,816
Ensembl chr 1:88,481,385...88,485,855 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25706626 NCBI chr19:40,425,560...40,724,810
Ensembl chr19:40,425,560...40,724,599 		JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:20835238 RGD:8661783 NCBI chr 4:46,606,538...46,639,616
Ensembl chr 4:46,600,738...46,639,740 		JBrowse link
G Clu clusterin no_association ISO DNA:SNPs, haplotype: :multiple
DNA:SNP:intron:rs2279590 (human) 		RGD PMID:18806885 PMID:16639006 PMID:19182256 PMID:19182256 PMID:25057782 RGD:8699505, RGD:8699516, RGD:8887372, RGD:8887372, RGD:9068391 NCBI chr15:44,336,619...44,375,861
Ensembl chr15:44,359,914...44,375,860 		JBrowse link
G Edn1 endothelin 1 ISO associated with Cataract;protein:increased expression:aqueous humor (human) RGD PMID:15031170 RGD:8661674 NCBI chr17:22,660,799...22,666,687
Ensembl chr17:22,660,799...22,666,687 		JBrowse link
G Eln elastin ISO RGD PMID:7777294 RGD:9585736 NCBI chr12:27,604,983...27,648,413
Ensembl chr12:27,604,680...27,648,413 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 susceptibility
no_association 		ISO DNA:deletion, haplotype:cds (human)
DNA:deletion:cds (human) 		RGD PMID:18334963 PMID:16020292 RGD:7488955, RGD:7495792 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility
no_association 		ISO DNA:deletion:cds (human)
mRNA:decreased expression:ciliary processes, iris (human) 		RGD PMID:21151336 PMID:16020292 PMID:18055805 RGD:7794822, RGD:7495792, RGD:7794853 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Loxl1 lysyl oxidase-like 1 no_association
susceptibility 		ISO
ISS 		DNA:SNP: :p.R141L (rs1048661) (human)
DNA:SNP: :multiple
DNA:SNP, haplotypes: :rs1048661, rs3825942 (human)
DNA:SNP:exon:rs1048661, rs3825942 (human)
DNA:SNP, haplotypes:promoter:multiple
DNA:SNPs:exon:p.R141L, p.G153D (human)
DNA:CNVs
CTD Direct Evidence: marker/mechanism
OMIM:177650
ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to | ClinVar Annotator: match by term: LOXL1-related condition 		CTD
OMIM
MouseDO
ClinVar
RGD		 PMID:17690259 PMID:18037624 PMID:19343041 PMID:25706626 PMID:25741868 More... RGD:7387325, RGD:7387326, RGD:7387327, RGD:7387328, RGD:7387329, RGD:7387331, RGD:7387332, RGD:7387333, RGD:7394726 NCBI chr 8:67,587,636...67,612,224
Ensembl chr 8:67,587,636...67,612,224 		JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Pseudoexfoliation glaucoma ClinVar PMID:23401661 PMID:25741868 PMID:28492532 NCBI chr 6:110,161,029...110,261,586
Ensembl chr 6:110,161,029...110,257,298 		JBrowse link
G Lyst lysosomal trafficking regulator ISS OMIM:177650 MouseDO NCBI chr17:93,225,509...93,427,650
Ensembl chr17:93,225,540...93,427,650 		JBrowse link
G Mmp1 matrix metallopeptidase 1 no_association ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:20808730 RGD:8549725 NCBI chr 8:12,943,453...12,963,966
Ensembl chr 8:12,943,453...12,963,964 		JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chr 3:174,103,474...174,111,434
Ensembl chr 3:174,084,123...174,111,442 		JBrowse link
G Optn optineurin no_association ISO DNA:polymorphism: :p.M98K (human) RGD PMID:16020311 RGD:6480509 NCBI chr17:78,118,847...78,169,543
Ensembl chr17:78,118,866...78,169,543 		JBrowse link
G Pomp proteasome maturation protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr12:12,198,262...12,212,132
Ensembl chr12:12,198,263...12,210,880 		JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased expression:serum (human) RGD PMID:19628957 RGD:8547685 NCBI chr 4:34,261,312...34,292,327
Ensembl chr 4:34,261,289...34,287,924 		JBrowse link
G Rbms3 RNA binding motif, single stranded interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 8:125,183,311...125,970,239
Ensembl chr 8:125,183,315...126,503,586 		JBrowse link
G Sod2 superoxide dismutase 2 ISO associated with cataract;mRNA:increased expression:lens epithelium:
associated with glaucoma,primary open angle; mRNA:increased expression: ciliary body, iris: 		RGD PMID:23805041 PMID:18055805 RGD:8158048, RGD:7794853 NCBI chr 1:50,043,323...50,050,168
Ensembl chr 1:50,043,325...50,050,168 		JBrowse link
G Stra6 signaling receptor and transporter of retinol STRA6 ISO mRNA:decreased expression:iris, retina (human) RGD PMID:30986821 RGD:155631292 NCBI chr 8:67,444,757...67,464,719
Ensembl chr 8:67,444,742...67,464,720 		JBrowse link
G Tlcd5 TLC domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 8:52,378,360...52,383,258
Ensembl chr 8:52,375,988...52,383,260 		JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:haplotype:: RGD PMID:22831837 RGD:7794768 NCBI chr 5:85,161,247...85,174,882
Ensembl chr 5:85,161,192...85,175,007 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      exfoliation syndrome 23
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      nervous system disease 14369
        Neurologic Manifestations 10446
          sensory system disease 7348
            eye disease 3565
              ocular hypertension 188
                glaucoma 172
                  phacogenic glaucoma 23
                    exfoliation syndrome 23
paths to the root