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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:angle-closure glaucoma
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Accession:DOID:13550 term browser browse the term
Definition:A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis. (DO)
Synonyms:exact_synonym: ACG - angle-closure glaucoma;   Closed-Angle Glaucoma;   Narrow-Angle Glaucoma;   Narrow-Angle Glaucomas;   Uncompensated Glaucoma;   Uncompensated Glaucomas;   angle closure glaucomas;   closed-angle glaucomas;   narrow cleft glaucoma;   primary open-angle glaucoma with narrow angles;   uncompensative glaucoma;   uncompensative glaucomas
 related_synonym: PCAG;   Primary Closed Angle Glaucoma
 primary_id: MESH:D015812
 xref: NCI:C34639
For additional species annotation, visit the Alliance of Genome Resources.


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angle-closure glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APOE apolipoprotein E susceptibility ISO DNA:polymorphism:exon: RGD PMID:17706090 RGD:7771556 NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490 		JBrowse link
G CAT catalase severity ISO DNA:SNP:promoter:g.4760C>T(rs1001179)(human) RGD PMID:23961996 RGD:9068947 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CHAT choline O-acetyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr10:44,574,925...44,629,618 JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922875 PMID:27064256 NCBI chr 1:105,538,215...105,769,973
Ensembl chr 1:104,249,891...104,481,259 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: Glaucoma, primary closed-angle ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr21:31,720,358...31,834,470 JBrowse link
G EDN1 endothelin 1 ISO protein:increased expression:plasma (human) RGD PMID:21946544 RGD:8661736 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545 		JBrowse link
G EPDR1 ependymin related 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr 7:38,556,734...38,588,059 JBrowse link
G FERMT2 FERM domain containing kindlin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr14:33,453,983...33,547,721
Ensembl chr14:51,737,188...51,829,766 		JBrowse link
G GLIS3 GLIS family zinc finger 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27064256 NCBI chr 9:3,633,416...4,125,420
Ensembl chr 9:3,827,712...4,300,658 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility ISO DNA:deletion, haplotype:cds (human) RGD PMID:18334963 RGD:7488955 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HGF hepatocyte growth factor susceptibility ISO DNA:SNPs,haplotype::rs5745718,rs1742817(human) RGD PMID:23585864 RGD:8548548 NCBI chr 7:73,667,618...73,738,960
Ensembl chr 7:87,327,798...87,397,811 		JBrowse link
G LOXL1 lysyl oxidase like 1 no_association ISO DNA:SNPs: :rs1048661, rs2165241, rs3825942 (human) RGD PMID:18223248 RGD:7394723 NCBI chr15:52,835,675...52,861,324 JBrowse link
G MMP9 matrix metallopeptidase 9 no_association ISO DNA:SNP: :c.836A>G (rs17576) (human)
DNA:SNPs: :rs17576, rs3918249 (human)
DNA:SNP: :rs2664538 (human)
DNA:SNP:promoter:-1562C>T (human)		 RGD PMID:17110919 PMID:21655354 PMID:23441116 RGD:8547816 RGD:8547830 RGD:8549724 NCBI chr20:42,346,305...42,354,018
Ensembl chr20:43,432,389...43,440,129 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNPs: :677C>T,1298A>C(human) RGD PMID:19936026 RGD:7387250 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G MUC5AC mucin 5AC, oligomeric mucus/gel-forming ISO associated with Cataract;protein:decreased expression:tear RGD PMID:21139981 RGD:7364742 NCBI chr11:1,191,223...1,234,373 JBrowse link
G NOS3 nitric oxide synthase 3 susceptibility ISO DNA:snps:introns:g.IVS5+1182G>A, g.IVS25+11C>A (rs3793342, rs7830) (human)
DNA:duplication:intron:IVS4?-?+27 (human)		 RGD PMID:20069064 PMID:23422825 RGD:7771573 RGD:7775046 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G PLEKHA7 pleckstrin homology domain containing A7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22922875 PMID:27064256 NCBI chr11:16,861,464...17,095,610
Ensembl chr11:16,555,368...16,647,075 		JBrowse link
G PRSS56 serine protease 56 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21532570 NCBI chr2B:119,751,950...119,757,308
Ensembl chr2B:238,670,931...238,675,839 		JBrowse link
G SH3PXD2B SH3 and PX domains 2B ISO CTD Direct Evidence: marker/mechanism CTD PMID:28719234 NCBI chr 5:167,678,633...167,807,960
Ensembl chr 5:174,591,759...174,719,957 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: Glaucoma, primary closed-angle ClinVar PMID:12415512 PMID:19160445 PMID:19390655 PMID:20799329 PMID:21862674 More... NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752 		JBrowse link
G TFAP2B transcription factor AP-2 beta ISO MouseDO NCBI chr 6:50,376,157...50,406,740
Ensembl chr 6:51,635,899...51,664,691 		JBrowse link
Nanophthalmos 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYRF myelin regulatory factor ISO ClinVar Annotator: match by term: Nanophthalmos 1 ClinVar NCBI chr11:57,052,219...57,088,105
Ensembl chr11:60,412,780...60,448,579 		JBrowse link
primary angle-closure glaucoma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 sexual_dimorphism ISO DNA:missense mutation:SNP:rs12997 (human) RGD PMID:32641001 RGD:329845517 NCBI chr2B:44,994,175...45,133,490
Ensembl chr2B:162,234,823...162,297,805 		JBrowse link
G ANAPC2 anaphase promoting complex subunit 2 ISO protein:increased expression:aqueous humor of eyeball (human) RGD PMID:29332228 RGD:14696671 NCBI chr 9:108,234,949...108,248,227
Ensembl chr 9:137,204,356...137,217,652 		JBrowse link
G COL18A1 collagen type XVIII alpha 1 chain ISO OMIM NCBI chr21:31,720,358...31,834,470 JBrowse link
G MYRF myelin regulatory factor ISO DNA:mutations:multiple: RGD PMID:36129575 RGD:199225554 NCBI chr11:57,052,219...57,088,105
Ensembl chr11:60,412,780...60,448,579 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    sensory system disease 6633
      eye disease 3381
        glaucoma 166
          angle-closure glaucoma 24
            Nanophthalmos 1 1
            primary angle-closure glaucoma + 4
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15262
      cardiovascular system disease 4336
        vascular disease 3044
          artery disease 2010
            hypertension 1004
              ocular hypertension 182
                glaucoma 166
                  angle-closure glaucoma 24
                    Nanophthalmos 1 1
                    primary angle-closure glaucoma + 4
paths to the root