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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


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: High myopia ClinVar NCBI chr 5:67,678,267...67,801,162
Ensembl chr 5:67,681,297...67,801,170 		JBrowse link
G Ablim2 actin binding LIM protein family, member 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr14:74,865,409...74,990,334
Ensembl chr14:74,866,281...74,990,334 		JBrowse link
G Aebp1 AE binding protein 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr14:80,738,800...80,748,878
Ensembl chr14:80,738,892...80,748,877 		JBrowse link
G Aldh1l1 aldehyde dehydrogenase 1 family, member L1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 4:123,059,989...123,106,471
Ensembl chr 4:123,060,008...123,106,465 		JBrowse link
G Anapc1 anaphase promoting complex subunit 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:115,850,117...115,930,259
Ensembl chr 3:115,850,185...115,930,273 		JBrowse link
G Ankmy2 ankyrin repeat and MYND domain containing 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 6:52,888,959...52,930,343
Ensembl chr 6:52,888,963...52,930,394 		JBrowse link
G Ap5z1 adaptor related protein complex 5 subunit zeta 1 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:25741868 PMID:28492532 NCBI chr12:12,093,834...12,109,043
Ensembl chr12:12,093,834...12,108,511 		JBrowse link
G Atat1 alpha tubulin acetyltransferase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr20:2,849,399...2,862,614
Ensembl chr20:2,844,616...2,861,964 		JBrowse link
G Bcan brevican ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 2:173,454,479...173,467,717
Ensembl chr 2:173,454,482...173,467,460 		JBrowse link
G Cd109 CD109 molecule ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 8:79,454,480...79,569,195
Ensembl chr 8:79,454,480...79,569,194 		JBrowse link
G Ciao3 cytosolic iron-sulfur assembly component 3 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:14,795,888...14,804,953
Ensembl chr10:14,795,961...14,804,950 		JBrowse link
G Col17a1 collagen type XVII alpha 1 chain ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:24814191 PMID:25803036 NCBI chr 1:246,530,589...246,577,559
Ensembl chr 1:246,531,367...246,577,632 		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 chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col2a1 collagen type II alpha 1 chain severity ISO DNA:snps:multiple (human) RGD PMID:19387081 RGD:8657342 NCBI chr 7:129,098,489...129,127,560
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Cpt1b carnitine palmitoyltransferase 1B ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 7:122,370,974...122,380,473
Ensembl chr 7:120,491,354...120,500,404 		JBrowse link
G Crygd crystallin, gamma D ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chr 9:66,442,057...66,443,668
Ensembl chr 9:66,442,054...66,444,067 		JBrowse link
G Dut deoxyuridine triphosphatase ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:112,498,864...112,509,994
Ensembl chr 3:112,498,982...112,510,771 		JBrowse link
G Egflam EGF-like, fibronectin type III and laminin G domains ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 2:56,301,945...56,476,665
Ensembl chr 2:56,302,566...56,476,298 		JBrowse link
G Elavl4 ELAV like RNA binding protein 4 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 5:125,056,848...125,200,543
Ensembl chr 5:125,056,848...125,200,446 		JBrowse link
G Eml6 EMAP like 6 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:33729517 PMID:35081682 PMID:36543923 NCBI chr14:103,471,537...103,806,120
Ensembl chr14:103,476,372...103,805,849 		JBrowse link
G Epha8 Eph receptor A8 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 5:149,166,107...149,193,515
Ensembl chr 5:149,166,697...149,193,399 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:7611299 PMID:8894692 PMID:9401003 PMID:9536098 PMID:10464652 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
G Fhip1a FHF complex subunit HOOK interacting protein 1A ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 2:171,016,951...171,265,715
Ensembl chr 2:171,021,246...171,265,848 		JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970 		JBrowse link
G Flrt3 fibronectin leucine rich transmembrane protein 3 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:127,994,491...128,008,137
Ensembl chr 3:127,994,226...128,007,841 		JBrowse link
G Fuca2 alpha-L-fucosidase 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:7,885,986...7,900,777
Ensembl chr 1:7,885,918...7,900,776 		JBrowse link
G Gna14 G protein subunit alpha 14 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:213,714,993...213,900,083
Ensembl chr 1:213,716,020...213,897,423 		JBrowse link
G Grb7 growth factor receptor bound protein 7 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:83,443,387...83,453,057
Ensembl chr10:83,444,004...83,453,052 		JBrowse link
G Hmx2 H6 family homeobox 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:186,319,110...186,326,771
Ensembl chr 1:186,319,110...186,326,771 		JBrowse link
G Hsd17b14 hydroxysteroid (17-beta) dehydrogenase 14 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:96,029,224...96,039,577
Ensembl chr 1:96,029,284...96,039,883 		JBrowse link
G Ifit1 interferon-induced protein with tetratricopeptide repeats 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:232,152,038...232,154,103
Ensembl chr 1:232,127,170...232,154,435 		JBrowse link
G Il1rap interleukin 1 receptor accessory protein ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:25741868 NCBI chr11:74,062,999...74,199,530
Ensembl chr11:74,070,304...74,199,530 		JBrowse link
G Il36b interleukin 36, beta ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:7,024,881...7,030,388
Ensembl chr 3:7,021,973...7,031,619 		JBrowse link
G Ina internexin neuronal intermediate filament protein, alpha ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:245,896,775...245,908,330
Ensembl chr 1:245,896,775...245,908,330 		JBrowse link
G Kdr kinase insert domain receptor ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:26422291 PMID:28492532 NCBI chr14:32,217,871...32,261,018
Ensembl chr14:32,217,871...32,261,018 		JBrowse link
G Lama5 laminin subunit alpha 5 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chr 3:167,270,296...167,318,370
Ensembl chr 3:167,270,296...167,318,451 		JBrowse link
G Lgmn legumain ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 6:121,544,048...121,582,495
Ensembl chr 6:121,544,053...121,582,480 		JBrowse link
G Limk1 LIM domain kinase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr12:22,026,697...22,060,605
Ensembl chr12:22,026,672...22,060,606 		JBrowse link
G LOC100910814 keratin-associated protein 9-1-like ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:84,819,652...84,820,206
Ensembl chr10:84,819,601...84,820,209 		JBrowse link
G Lrp1b LDL receptor related protein 1B ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:24,594,302...26,715,037
Ensembl chr 3:24,594,991...26,715,505 		JBrowse link
G Lrp2 LDL receptor related protein 2 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:17632512 PMID:25682901 PMID:25741868 PMID:28492532 NCBI chr 3:54,189,305...54,346,769
Ensembl chr 3:54,189,308...54,346,708 		JBrowse link
G Macrod2 mono-ADP ribosylhydrolase 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:127,720,066...129,737,511
Ensembl chr 3:127,720,181...129,734,492 		JBrowse link
G Mcl1 MCL1 apoptosis regulator, BCL2 family member ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 2:183,219,137...183,235,676
Ensembl chr 2:183,219,220...183,222,303 		JBrowse link
G Neil2 nei-like DNA glycosylase 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr15:37,444,676...37,454,863
Ensembl chr15:37,445,381...37,454,863 		JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chr 2:226,689,745...226,805,897
Ensembl chr 2:224,016,214...224,110,404 		JBrowse link
G Nrcam neuronal cell adhesion molecule ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 6:61,402,813...61,698,536
Ensembl chr 6:61,329,863...61,702,992 		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 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Paxbp1 PAX3 and PAX7 binding protein 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr11:30,272,037...30,301,504
Ensembl chr11:30,272,037...30,301,648 		JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:25741868 NCBI chr 5:121,211,278...121,233,688
Ensembl chr 5:121,211,278...121,233,688 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pgap1 post-GPI attachment to proteins inositol deacylase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 9:55,975,574...56,044,325
Ensembl chr 9:55,975,667...56,044,464 		JBrowse link
G Pgs1 phosphatidylglycerophosphate synthase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:103,214,635...103,250,254
Ensembl chr10:103,214,646...103,250,254 		JBrowse link
G Pigt phosphatidylinositol glycan anchor biosynthesis, class T ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 NCBI chr 3:153,227,749...153,236,922
Ensembl chr 3:153,227,420...153,236,887 		JBrowse link
G Prkaa2 protein kinase AMP-activated catalytic subunit alpha 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 5:119,807,992...119,879,987
Ensembl chr 5:119,813,226...119,879,543 		JBrowse link
G Prpf38b pre-mRNA processing factor 38B ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 2:196,553,224...196,562,271
Ensembl chr 2:196,553,225...196,562,250 		JBrowse link
G Psat1 phosphoserine aminotransferase 1 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:28492532 PMID:32077105 NCBI chr 1:213,196,709...213,218,564
Ensembl chr 1:213,196,709...213,218,682 		JBrowse link
G Ptprz1 protein tyrosine phosphatase, receptor type Z1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 4:51,397,316...51,595,220
Ensembl chr 4:51,397,601...51,595,218 		JBrowse link
G Pygm glycogen phosphorylase, muscle associated ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:25741868 PMID:28492532 PMID:29881221 NCBI chr 1:203,690,550...203,705,369
Ensembl chr 1:203,690,533...203,705,368 		JBrowse link
G Rabepk Rab9 effector protein with kelch motifs ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:18,061,299...18,083,191
Ensembl chr 3:18,061,574...18,083,191 		JBrowse link
G Ralgapb Ral GTPase activating protein non-catalytic subunit beta ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:147,062,443...147,152,090
Ensembl chr 3:147,062,364...147,152,090 		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 8:90,445,154...90,574,274
Ensembl chr 8:90,445,154...90,574,269 		JBrowse link
G Rpl4 ribosomal protein L4 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 8:64,671,177...64,676,301
Ensembl chr 8:64,671,160...64,676,306 		JBrowse link
G Sema3c semaphorin 3C ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 4:17,583,212...17,747,234
Ensembl chr 4:17,583,212...17,746,534 		JBrowse link
G Sipa1l2 signal-induced proliferation-associated 1 like 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr19:53,389,792...53,540,466
Ensembl chr19:53,389,805...53,540,428 		JBrowse link
G Slc22a5 solute carrier family 22 member 5 ISO ClinVar Annotator: match by term: Severe Myopia ClinVar PMID:18673259 PMID:25741868 PMID:26633542 PMID:26828774 PMID:28074886 More... NCBI chr10:38,008,303...38,035,474
Ensembl chr10:38,008,311...38,035,309 		JBrowse link
G Slc25a25 solute carrier family 25 member 25 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 3:15,708,702...15,742,195
Ensembl chr 3:15,708,703...15,742,216 		JBrowse link
G Slc28a1 solute carrier family 28 member 1 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:135,079,375...135,122,791
Ensembl chr 1:135,081,385...135,122,464 		JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021 		JBrowse link
G Slc6a19 solute carrier family 6 member 19 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:9536098 PMID:15286788 PMID:17576681 PMID:25741868 PMID:28492532 NCBI chr 1:29,586,191...29,604,964
Ensembl chr 1:29,586,195...29,604,962 		JBrowse link
G Sntg2 syntrophin, gamma 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 6:46,801,893...47,003,390
Ensembl chr 6:46,801,377...47,003,372 		JBrowse link
G St14 ST14 transmembrane serine protease matriptase ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 8:29,540,805...29,581,704
Ensembl chr 8:29,540,811...29,581,517 		JBrowse link
G Stac2 SH3 and cysteine rich domain 2 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:83,032,418...83,048,260
Ensembl chr10:83,032,417...83,048,260 		JBrowse link
G Wdr36 WD repeat domain 36 ISO ClinVar Annotator: match by term: High myopia ClinVar PMID:25741868 PMID:28492532 NCBI chr18:24,473,657...24,501,773
Ensembl chr18:24,473,663...24,508,092 		JBrowse link
G Zc3h13 zinc finger CCCH type containing 13 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr15:50,607,335...50,671,802
Ensembl chr15:50,607,380...50,671,802 		JBrowse link
G Zfp446 zinc finger protein 446 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:73,594,953...73,612,685
Ensembl chr 1:73,601,759...73,612,685 		JBrowse link
G Zfp536 zinc finger protein 536 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr 1:90,000,359...90,463,423
Ensembl chr 1:90,002,858...90,462,990 		JBrowse link
G Zfp692 zinc finger protein 692 ISO ClinVar Annotator: match by term: High myopia ClinVar NCBI chr10:42,484,576...42,496,573
Ensembl chr10:42,488,588...42,496,018 		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 term: Myopia, high, with cataract and vitreoretinal degeneration | ClinVar Annotator: match by term: P3H2-related condition OMIM
ClinVar		 PMID:21885030 PMID:24172257 PMID:25469533 PMID:25741868 PMID:28492532 More... NCBI chr11:74,634,267...74,775,422
Ensembl chr11:74,634,267...74,775,421 		JBrowse link
high myopia-sensorineural deafness syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slitrk6 SLIT and NTRK-like family, member 6 ISO
ISS 		ClinVar Annotator: match by term: Deafness and myopia | ClinVar Annotator: match by term: High myopia-sensorineural deafness syndrome | ClinVar Annotator: match by term: SLITRK6-related condition
OMIM:221200 		OMIM
ClinVar
MouseDO		 PMID:23543054 PMID:23946138 PMID:24033266 PMID:25363768 PMID:25741868 More... NCBI chr15:87,563,506...87,570,125
Ensembl chr15:87,563,322...87,570,393 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19145
    sensory system disease 7372
      eye disease 3728
        refractive error 241
          myopia 184
            High Myopia 80
              High Myopia with Cataract and Vitreoretinal Degeneration 1
              high myopia-sensorineural deafness syndrome 1
Path 2
Term Annotations click to browse term
  disease 19145
    disease of anatomical entity 18457
      nervous system disease 14363
        Neurologic Manifestations 10461
          sensory system disease 7372
            eye disease 3728
              refractive error 241
                myopia 184
                  High Myopia 80
                    High Myopia with Cataract and Vitreoretinal Degeneration 1
                    high myopia-sensorineural deafness syndrome 1
paths to the root