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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;   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: OMIM:177650
 xref: ICD9CM:365.52;   NCI:C129025
For additional species annotation, visit the Alliance of Genome Resources.



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exfoliation syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agpat1 1-acylglycerol-3-phosphate O-acyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr20:4,135,955...4,144,880
Ensembl chr20:4,135,957...4,145,278
JBrowse link
G Apoe apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:15939044 RGD:7771555 NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25706626 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Cav1 caveolin 1 no_association ISO DNA:SNP:promoter:rs4236601 (human) RGD PMID:20835238 RGD:8661783 NCBI chr 4:45,640,624...45,673,708
Ensembl chr 4:45,634,918...45,673,705
JBrowse link
G Clu clusterin no_association ISO DNA:SNPs, haplotype: :multiple
DNA:SNP:intron:rs2279590 (human)
RGD PMID:18806885 PMID:25057782 PMID:19182256 PMID:19182256 PMID:16639006 RGD:8699505, RGD:9068391, RGD:8887372, RGD:8887372, RGD:8699516 NCBI chr15:40,161,068...40,200,315
Ensembl chr15:40,174,617...40,200,315
JBrowse link
G Edn1 endothelin 1 ISO associated with Cataract;protein:increased expression:aqueous humor (human) RGD PMID:15031170 RGD:8661674 NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
JBrowse link
G Eln elastin ISO RGD PMID:7777294 RGD:9585736 NCBI chr12:21,968,544...22,011,929
Ensembl chr12:21,968,544...22,011,928
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 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
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:18055805 PMID:16020292 RGD:7794822, RGD:7794853, RGD:7495792 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585
JBrowse link
G Loxl1 lysyl oxidase-like 1 susceptibility
no_association
ISO DNA:SNP: :p.R141L (rs1048661) (human)
ClinVar Annotator: match by term: Exfoliation syndrome, susceptibility to
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
ClinVar
OMIM
CTD
RGD
PMID:17690259 PMID:18037624 PMID:19343041 PMID:25706626 PMID:28553957 More... RGD:7387325, RGD:7387326, RGD:7387327, RGD:7387328, RGD:7387329, RGD:7387331, RGD:7387332, RGD:7387333, RGD:7394726 NCBI chr 8:58,692,592...58,716,356
Ensembl chr 8:58,692,593...58,716,356
JBrowse link
G Ltbp2 latent transforming growth factor beta binding protein 2 ISO ClinVar Annotator: match by term: Exfoliation Syndrome
ClinVar Annotator: match by term: Pseudoexfoliation glaucoma
ClinVar PMID:23401661 PMID:28492532 NCBI chr 6:104,429,947...104,530,498
Ensembl chr 6:104,429,947...104,526,208
JBrowse link
G Lyst lysosomal trafficking regulator ISS OMIM:177650 MouseDO NCBI chr17:86,241,384...86,443,501 JBrowse link
G Mmp1 matrix metallopeptidase 1 no_association ISO DNA:insertion:promoter:g.-1607insG rs1799750 (human) RGD PMID:20808730 RGD:8549725 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097
JBrowse link
G Mmp9 matrix metallopeptidase 9 no_association ISO DNA:insertion: :p.Q279R (rs17576) (human) RGD PMID:20808730 RGD:8549725 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Optn optineurin no_association ISO DNA:polymorphism: :p.M98K (human) RGD PMID:16020311 RGD:6480509 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Pomp proteasome maturation protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr12:7,162,098...7,174,737
Ensembl chr12:7,160,714...7,174,715
JBrowse link
G Pon1 paraoxonase 1 ISO protein:decreased expression:serum (human) RGD PMID:19628957 RGD:8547685 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360
JBrowse link
G Rbms3 RNA binding motif, single stranded interacting protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 8:116,308,360...117,625,730
Ensembl chr 8:116,309,882...117,625,423
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 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Tlcd5 TLC domain containing 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28553957 NCBI chr 8:43,481,388...43,486,288
Ensembl chr 8:43,479,016...43,486,290
JBrowse link
G Tlr4 toll-like receptor 4 susceptibility ISO DNA:haplotype:: RGD PMID:22831837 RGD:7794768 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      exfoliation syndrome 21
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      cardiovascular system disease 4526
        vascular disease 3440
          artery disease 2405
            hypertension 1509
              ocular hypertension 158
                glaucoma 142
                  phacogenic glaucoma 21
                    exfoliation syndrome 21
paths to the root