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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.


show annotations for term's descendants           Sort by:
 
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 chr 5:69,857,717...69,983,042
Ensembl chr 5:69,857,771...69,983,015
JBrowse link
G Ablim2 actin binding LIM protein family, member 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr14:80,044,217...80,169,491
Ensembl chr14:80,045,078...80,169,472
JBrowse link
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr14:86,101,253...86,111,323
Ensembl chr14:86,101,277...86,111,306
JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 4:123,516,553...123,564,067
Ensembl chr 4:123,516,788...123,557,501
JBrowse link
G Anapc1 anaphase promoting complex subunit 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:121,147,484...121,226,125
Ensembl chr 3:121,147,547...121,226,125
JBrowse link
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 6:55,646,905...55,689,223
Ensembl chr 6:55,648,021...55,689,218
JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:28492532 NCBI chr12:14,161,998...14,175,997 JBrowse link
G Atat1 alpha tubulin acetyltransferase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr20:3,351,269...3,364,565
Ensembl chr20:3,351,303...3,364,565
JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 2:187,359,674...187,373,133
Ensembl chr 2:187,359,677...187,372,657
JBrowse link
G Cd109 CD109 molecule ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 8:85,951,420...86,065,411
Ensembl chr 8:85,951,191...86,065,409
JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:15,143,732...15,152,706
Ensembl chr10:15,143,713...15,153,396
JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:24814191, PMID:25803036 NCBI chr 1:267,416,681...267,465,049
Ensembl chr 1:267,417,459...267,463,705
JBrowse link
G Col18a1 collagen type XVIII alpha 1 chain ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr20:12,225,202...12,332,858
Ensembl chr20:12,225,202...12,332,858
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 chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col2a1 collagen type II alpha 1 chain severity ISO DNA:snps:multiple (human) RGD PMID:19387081 RGD:8657342 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 7:130,395,211...130,404,731
Ensembl chr 7:130,395,194...130,405,347
JBrowse link
G Crygd crystallin, gamma D ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 9:71,776,568...71,778,323
Ensembl chr 9:71,764,318...71,778,323
JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:117,514,399...117,525,450
Ensembl chr 3:117,514,444...117,525,446
JBrowse link
G Egflam EGF-like, fibronectin type III and laminin G domains ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 2:56,503,002...56,681,334
Ensembl chr 2:56,502,807...56,679,955
JBrowse link
G Elavl4 ELAV like RNA binding protein 4 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 5:130,001,387...130,144,557
Ensembl chr 5:130,001,372...130,085,838
JBrowse link
G Epha8 Eph receptor A8 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 5:155,293,731...155,321,016
Ensembl chr 5:155,295,314...155,316,495
JBrowse link
G Fam160a1 family with sequence similarity 160, member A1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 2:184,684,851...184,993,350
Ensembl chr 2:184,941,700...185,168,773
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 chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:46,955,460...46,969,468
Ensembl chr10:46,955,487...46,969,406
JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:134,684,446...134,696,586
Ensembl chr 3:134,683,065...134,696,654
JBrowse link
G Fuca2 alpha-L-fucosidase 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:7,658,919...7,673,663
Ensembl chr 1:7,658,890...7,673,683
JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:235,165,775...235,347,986
Ensembl chr 1:235,166,718...235,347,937
JBrowse link
G Grb7 growth factor receptor bound protein 7 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:86,393,186...86,408,893
Ensembl chr10:86,399,827...86,409,348
JBrowse link
G Hmx2 H6 family homeobox 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:203,515,605...203,523,266
Ensembl chr 1:203,515,609...203,523,358
JBrowse link
G Hsd17b14 hydroxysteroid (17-beta) dehydrogenase 14 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:101,541,266...101,551,059
Ensembl chr 1:101,541,266...101,551,059
JBrowse link
G Ifit1 interferon-induced protein with tetratricopeptide repeats 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:252,944,105...252,946,170
Ensembl chr 1:252,944,103...252,946,170
JBrowse link
G Il1rap interleukin 1 receptor accessory protein ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr11:77,456,648...77,593,208
Ensembl chr11:77,463,954...77,593,207
JBrowse link
G Il36b interleukin 36, beta ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:1,366,123...1,464,851
Ensembl chr 3:1,366,119...1,371,626
JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:266,782,835...266,794,389
Ensembl chr 1:266,781,617...266,794,431
JBrowse link
G Kcnj2 potassium inwardly-rectifying channel, subfamily J, member 2 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:30311386 NCBI chr10:99,429,337...99,442,520
Ensembl chr10:99,437,436...99,439,114
JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:28492532 NCBI chr14:34,727,677...34,787,127
Ensembl chr14:34,727,623...34,787,183
JBrowse link
G Krtap9-1 keratin associated protein 9-1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:87,759,781...87,760,576 JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:175,553,042...175,601,112
Ensembl chr 3:175,553,045...175,601,127
JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 6:126,282,246...126,308,207
Ensembl chr 6:126,282,233...126,320,726
JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr12:25,036,630...25,070,538
Ensembl chr12:25,036,605...25,070,539
JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:25741868 NCBI chr 3:55,665,153...55,822,484
Ensembl chr 3:55,665,145...55,822,551
JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:135,729,839...136,422,082 JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 2:197,786,212...197,788,992 JBrowse link
G Neil2 nei-like DNA glycosylase 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr15:46,371,780...46,382,730
Ensembl chr15:46,372,485...46,381,967
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 2:240,773,520...240,890,053
Ensembl chr 2:240,773,456...240,866,689
JBrowse link
G Nrcam neuronal cell adhesion molecule ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 6:64,297,843...64,867,408
Ensembl chr 6:64,297,888...64,864,996
JBrowse link
G Pax6 paired box 6 susceptibility ISO DNA:snp, haplotype:3' utr:c.*2160G>A (rs12421026) (human)
DNA:snps:intron:IVS13+43T>G, IVS13-1101A>G (rs3026393, rs3026390) (human)
DNA:snp:intron:IVS11+393C>A (rs644242) (human)
RGD PMID:21589860, PMID:19124844, PMID:23213273 RGD:8552263, RGD:8552290, RGD:8552307 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr11:31,184,456...31,213,891
Ensembl chr11:31,185,473...31,213,787
JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:25741868 NCBI chr 5:126,031,368...126,053,726
Ensembl chr 5:126,031,368...126,053,726
JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr14:2,328,690...2,371,913
Ensembl chr14:2,328,750...2,371,883
JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 9:61,066,170...61,134,963
Ensembl chr 9:61,066,175...61,134,963
JBrowse link
G Pgs1 phosphatidylglycerophosphate synthase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:106,994,595...107,030,208
Ensembl chr10:106,991,935...107,030,260
JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:160,945,556...160,954,738
Ensembl chr 3:160,945,359...160,954,739
JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 5:124,568,845...124,642,569
Ensembl chr 5:124,574,079...124,642,569
JBrowse link
G Prpf38b pre-mRNA processing factor 38B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 2:211,706,245...211,715,271
Ensembl chr 2:211,706,228...211,715,311
JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:32077105 NCBI chr 1:233,124,089...233,145,941
Ensembl chr 1:233,124,092...233,145,941
JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 4:49,941,046...50,140,764
Ensembl chr 4:49,941,304...50,140,762
JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:25741868, PMID:28492532 NCBI chr 1:221,756,325...221,771,142
Ensembl chr 1:221,756,286...221,771,143
JBrowse link
G Rabepk Rab9 effector protein with kelch motifs ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:13,845,352...13,865,843
Ensembl chr 3:13,845,361...13,865,843
JBrowse link
G Ralgapb Ral GTPase activating protein non-catalytic subunit beta ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:154,910,291...154,983,021
Ensembl chr 3:154,905,141...154,983,021
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 chr 8:97,277,250...97,405,095
Ensembl chr 8:97,277,456...97,405,102
JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 8:69,121,682...69,126,805
Ensembl chr 8:69,121,682...69,126,805
JBrowse link
G Sema3c semaphorin 3C ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 4:14,318,276...14,490,438
Ensembl chr 4:14,318,274...14,490,446
JBrowse link
G Sipa1l2 signal-induced proliferation-associated 1 like 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr19:58,236,201...58,399,842
Ensembl chr19:58,236,214...58,399,816
JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr20:12,334,675...12,354,517
Ensembl chr20:12,334,676...12,352,377
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 chr10:39,201,101...39,228,090
Ensembl chr10:39,201,107...39,323,853
JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 3:11,442,396...11,476,186
Ensembl chr 3:11,442,397...11,452,529
JBrowse link
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:142,948,942...142,992,410
Ensembl chr 1:142,950,540...142,992,615
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 5:173,024,335...173,050,228
Ensembl chr 5:173,024,335...173,046,194
JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:25741868 NCBI chr 1:32,199,869...32,218,628
Ensembl chr 1:32,199,810...32,220,045
JBrowse link
G Sntg2 syntrophin, gamma 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 6:49,123,084...49,324,530
Ensembl chr 6:49,123,084...49,324,450
JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 8:32,240,113...32,280,813
Ensembl chr 8:32,240,133...32,280,869
JBrowse link
G Stac2 SH3 and cysteine rich domain 2 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:85,988,367...86,004,209
Ensembl chr10:85,988,367...86,004,209
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:32581362 NCBI chr 7:74,118,834...74,722,341 JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr18:25,637,475...25,665,801
Ensembl chr18:25,637,588...25,665,639
JBrowse link
G Zc3h13 zinc finger CCCH type containing 13 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr15:57,340,522...57,405,287
Ensembl chr15:57,340,579...57,405,287
JBrowse link
G Zfp446 zinc finger protein 446 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:65,595,518...65,608,757 JBrowse link
G Zfp536 zinc finger protein 536 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr 1:93,689,114...94,155,457
Ensembl chr 1:93,851,454...93,949,187
JBrowse link
G Zfp692 zinc finger protein 692 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar NCBI chr10:43,740,739...43,752,713
Ensembl chr10:43,744,731...43,752,242
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 ClinVar Annotator: match by This custom term has been created by RGD curators.
ClinVar Annotator: match by OMIM:614292
ClinVar Annotator: match by term: Myopia, high, with cataract and vitreoretinal degeneration
OMIM
ClinVar
PMID:21885030, PMID:24172257, PMID:25469533, PMID:25741868 NCBI chr11:78,028,885...78,169,746
Ensembl chr11:78,029,038...78,169,648
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        refractive error 231
          myopia 149
            High Myopia 81
              High Myopia with Cataract and Vitreoretinal Degeneration 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            refractive error 231
              myopia 149
                High Myopia 81
                  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.