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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:High Myopia
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Accession:DOID:9002189 term browser browse the term
Definition:This is a severe form of myopia in which the eyeball stretches and becomes too long. This can lead to holes or tears in the retina and further complications.
Synonyms:exact_synonym: severe myopia
 primary_id: RDO:9000108
For additional species annotation, visit the Alliance of Genome Resources.


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High Myopia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936559:7,177,887...7,312,660 JBrowse link
G Ablim2 actin binding LIM protein family member 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936477:19,426,962...19,562,608 JBrowse link
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936478:19,065,092...19,074,783 JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family member L1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936898:456,299...484,681 JBrowse link
G Anapc1 anaphase promoting complex subunit 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936783:509,287...591,153 JBrowse link
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936546:3,124,124...3,159,701 JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:28492532 NCBI chrNW_004936765:1,112,333...1,123,244 JBrowse link
G Atat1 alpha tubulin acetyltransferase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936837:300,765...319,742 JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936580:5,816,196...5,828,531 JBrowse link
G Cd109 CD109 molecule ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936859:467,958...595,337 JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936501:277,525...286,929 JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:24814191, PMID:25803036 NCBI chrNW_004936600:2,084,854...2,133,028 JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004936778:847,473...943,038 JBrowse link
G Col1a1 collagen type I alpha 1 chain susceptibility
no_association
ISO DNA:snps:5' utr, intron:g.-2116T>G, g.-1482G>C, IVS11+80T>G (rs1107946, rs2269336, rs2075555) (human)
DNA:snps:5' utr, intron:g.-1482G>C, IVS11+80T>G (rs2269336, rs2075555) (human)
RGD PMID:17557158, PMID:18836165 RGD:8552654, RGD:8552655 NCBI chrNW_004936490:11,448,552...11,465,836 JBrowse link
G Col2a1 collagen type II alpha 1 chain severity ISO DNA:snps:multiple (human) RGD PMID:19387081 RGD:8657342 NCBI chrNW_004936512:5,861,933...5,894,898 JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936629:246,876...255,537 JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936471:10,670,604...10,681,356 JBrowse link
G Egflam EGF like, fibronectin type III and laminin G domains ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936518:3,706,818...3,882,308 JBrowse link
G Elavl4 ELAV like RNA binding protein 4 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936522:10,349,684...10,435,963 JBrowse link
G Epha8 EPH receptor A8 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936474:7,928,700...7,981,961 JBrowse link
G Fam160a1 family with sequence similarity 160 member A1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936689:1,408,755...1,646,271 JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:7611299, PMID:8894692, PMID:9401003, PMID:10464652, PMID:10533071, PMID:10874320, PMID:11700157, PMID:11933199, PMID:12203987, PMID:12203992, PMID:12402346, PMID:12938084, PMID:14695540, PMID:15241795, PMID:16220557, PMID:16222657, PMID:16835936, PMID:17253931, PMID:17627385, PMID:17657824, PMID:17663468, PMID:19159394, PMID:19293843, PMID:21542060, PMID:21907952, PMID:24033266, PMID:24161884, PMID:24833718, PMID:25741868, PMID:25907466, PMID:26133393, PMID:26333736, PMID:27146836, PMID:27611364, PMID:28492532, PMID:29357934, PMID:30675029, PMID:30739908 NCBI chrNW_004936471:10,747,030...10,969,223 JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936504:1,535,629...1,757,386 JBrowse link
G Flii FLII actin remodeling protein ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936741:1,784,802...1,796,176 JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936485:5,532,554...5,547,430 JBrowse link
G Fuca2 alpha-L-fucosidase 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936625:2,636,136...2,653,328 JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936503:12,860,296...13,056,880 JBrowse link
G Grb7 growth factor receptor bound protein 7 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936490:14,912,010...14,925,380 JBrowse link
G Hmx2 H6 family homeobox 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936486:11,789,991...11,792,500 JBrowse link
G Il1rap interleukin 1 receptor accessory protein ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004937049:48,267...185,766 JBrowse link
G Il36b interleukin 36 beta ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936783:1,384,796...1,388,507 JBrowse link
G Ina internexin neuronal intermediate filament protein alpha ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936600:2,747,649...2,760,517 JBrowse link
G Kcnj2 potassium inwardly rectifying channel subfamily J member 2 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:30311386 NCBI chrNW_004936655:3,447,026...3,459,569 JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:28492532 NCBI chrNW_004936482:17,537,697...17,581,320 JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936514:9,928,234...9,973,425 JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936733:772,764...792,792 JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936543:3,190,741...3,208,232 JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936469:35,000,773...36,160,216 JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:25741868 NCBI chrNW_004936469:10,245,001...10,438,933 JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936485:3,917,060...5,859,527 JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936580:803,452...806,966 JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936520:733,760...850,563 JBrowse link
G Nrcam neuronal cell adhesion molecule ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936653:1,167,055...1,238,241 JBrowse link
G Pax6 paired box 6 susceptibility ISO DNA:snp:intron:IVS11+393C>A (rs644242) (human)
DNA:snps:intron:IVS13+43T>G, IVS13-1101A>G (rs3026393, rs3026390) (human)
DNA:snp, haplotype:3' utr:c.*2160G>A (rs12421026) (human)
RGD PMID:19124844, PMID:21589860, PMID:23213273 RGD:8552263, RGD:8552290, RGD:8552307 NCBI chrNW_004936533:5,952,529...5,980,889 JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936500:9,447,091...9,481,612 JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:25741868 NCBI chrNW_004936522:6,271,339...6,300,202 JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936477:22,418,037...22,472,251 JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936506:2,224,598...2,297,022 JBrowse link
G Pgs1 phosphatidylglycerophosphate synthase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936594:2,934,450...2,989,328 JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis class T ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936514:7,471,134...7,481,183 JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936522:4,872,360...4,939,873 JBrowse link
G Prpf38b pre-mRNA processing factor 38B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936704:272,998...282,189 JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:32077105 NCBI chrNW_004936632:4,392,165...4,422,670 JBrowse link
G Ptprz1 protein tyrosine phosphatase receptor type Z1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936605:3,195,893...3,368,102 JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:25741868, PMID:28492532 NCBI chrNW_004936599:4,551,164...4,564,109 JBrowse link
G Rabepk Rab9 effector protein with kelch motifs ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936487:13,320,988...13,346,609 JBrowse link
G Ralgapb Ral GTPase activating protein non-catalytic subunit beta ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936561:2,806,195...2,908,909 JBrowse link
G Rasgrf1 Ras protein specific guanine nucleotide releasing factor 1 ISO DNA:snp:intron:IVS1+7218 (human) RGD PMID:24150758 RGD:10003136 NCBI chrNW_004936471:37,173,595...37,278,356 JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936471:26,635,838...26,641,877 JBrowse link
G Sema3c semaphorin 3C ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936810:903,306...1,063,024 JBrowse link
G Sipa1l2 signal induced proliferation associated 1 like 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936484:18,787,633...18,865,859 JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chrNW_004936778:823,376...846,843 JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:18673259, PMID:25741868, PMID:26828774, PMID:28492532 NCBI chrNW_004936647:2,774,063...2,798,585 JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936487:15,661,133...15,696,267 JBrowse link
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936483:16,929,896...16,976,560 JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:25741868 NCBI chrNW_004936815:515,928...532,877 JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936572:2,137,820...2,182,674 JBrowse link
G Stac2 SH3 and cysteine rich domain 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936490:14,482,173...14,496,242 JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: High myopia
ClinVar Annotator: match by term: Severe Myopia
ClinVar PMID:32581362 NCBI chrNW_004936470:43,281,905...43,952,523 JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936531:5,513,082...5,546,515 JBrowse link
G Zc3h13 zinc finger CCCH-type containing 13 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936857:495,904...576,984 JBrowse link
G Znf446 zinc finger protein 446 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004937062:71,926...83,014 JBrowse link
G Znf536 zinc finger protein 536 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936570:4,768,842...5,201,254 JBrowse link
G Znf692 zinc finger protein 692 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chrNW_004936609:602,987...612,182 JBrowse link
High Myopia with Cataract and Vitreoretinal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G P3h2 prolyl 3-hydroxylase 2 ISO OMIM NCBI chrNW_004936578:268,815...431,123 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11962
    sensory system disease 4631
      eye disease 2419
        refractive error 220
          myopia 137
            High Myopia 75
              High Myopia with Cataract and Vitreoretinal Degeneration 1
Path 2
Term Annotations click to browse term
  disease 11962
    disease of anatomical entity 11526
      nervous system disease 9457
        sensory system disease 4631
          eye disease 2419
            refractive error 220
              myopia 137
                High Myopia 75
                  High Myopia with Cataract and Vitreoretinal Degeneration 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.