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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:strabismus
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Accession:DOID:540 term browser browse the term
Definition:A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object. (DO)
Synonyms:exact_synonym: Comitant Strabismus;   Convergent Comitant Strabismus;   Noncomitant Strabismus;   Phoria;   phorias;   squint
 narrow_synonym: CONGENITAL STRABISMUS
 related_synonym: STBMS1;   strabismus, susceptibility to;   strabismus, susceptibility to, 1
 primary_id: MESH:D013285
 alt_id: OMIM:185100
 xref: ICD10CM:H50.8;   ICD9CM:378.7
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
strabismus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AHCTF1 AT-hook containing transcription factor 1 ISO ClinVar Annotator: match by term: Squint ClinVar NCBI chr 1:222,469,006...222,563,635
Ensembl chr 1:227,935,557...228,026,795 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:14710472 RGD:8699500 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 1:105,538,215...105,769,973
Ensembl chr 1:104,249,891...104,481,259 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 PMID:30311386 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651 		JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr11:53,000,582...53,058,054
Ensembl chr11:56,470,174...56,527,593 		JBrowse link
G EIF4A1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr17:7,604,331...7,610,302
Ensembl chr17:7,590,569...7,596,876 		JBrowse link
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 NCBI chr 3:70,893,933...71,523,892
Ensembl chr 3:72,258,456...72,498,173 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:30194818 PMID:32963807 NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 1:23,519,911...23,558,105
Ensembl chr 1:24,502,294...24,547,152 		JBrowse link
G LSM1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:31010896 NCBI chr 8:37,465,986...37,479,186
Ensembl chr 8:34,642,938...34,656,142 		JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 NCBI chr12:113,531,181...113,850,854
Ensembl chr12:116,909,244...117,065,649 		JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 3:69,674,064...69,902,078
Ensembl chr 3:71,037,665...71,265,445 		JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Congenital strabismus ClinVar PMID:30311386 NCBI chr17:40,974,636...41,025,511
Ensembl chr17:45,746,301...45,772,735 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618 		JBrowse link
G NEK1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 4:161,618,181...161,830,332
Ensembl chr 4:173,690,074...173,902,100 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:21520333 PMID:28492532 PMID:30311386 NCBI chr17:25,425,081...25,703,689
Ensembl chr17:26,160,855...26,439,295 		JBrowse link
G OLFM3 olfactomedin 3 ISO ClinVar Annotator: match by term: Susceptibility to strabismus ClinVar NCBI chr 1:104,451,488...104,651,208
Ensembl chr 1:103,168,819...103,364,306 		JBrowse link
G PCGF3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 4:802,990...874,063
Ensembl chr 4:746,137...805,443 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 5:145,538,330...145,580,312
Ensembl chr 5:151,543,891...151,585,530 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr11:34,889,242...34,968,886
Ensembl chr11:34,764,450...34,844,166 		JBrowse link
G PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:19862844 PMID:21541725 PMID:28492532 PMID:30311386 NCBI chr16:7,731,266...7,782,871
Ensembl chr16:8,971,692...9,020,406 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr19:47,347,919...47,381,772
Ensembl chr19:56,251,356...56,297,611 		JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Squint ClinVar PMID:32581362 NCBI chr 5:134,325,451...134,573,398
Ensembl chr 5:140,450,891...140,628,703 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr2A:39,019,046...39,162,248
Ensembl chr2A:39,773,760...39,911,961 		JBrowse link
G SOX5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:30311386 NCBI chr12:62,361,631...62,780,805
Ensembl chr12:64,971,818...65,388,694 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26865513 NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152 		JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 6:10,237,834...10,260,843 JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856 		JBrowse link
G UBTF upstream binding transcription factor ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr17:13,176,228...13,191,283
Ensembl chr17:13,343,349...13,356,836 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr  X:118,932,986...118,973,238
Ensembl chr  X:129,230,571...129,270,665 		JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COLEC11 collectin subfamily member 11 ISO OMIM NCBI chr2A:3,610,679...3,659,739
Ensembl chr2A:3,529,358...3,579,517 		JBrowse link
G MASP1 mannan binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 3:184,241,611...184,317,272
Ensembl chr 3:192,707,784...192,782,196 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:8528239 PMID:8571951 PMID:8931695 PMID:9342225 PMID:10465113 PMID:10482955 PMID:11241838 PMID:11303514 PMID:11448940 PMID:11565064 PMID:12525546 PMID:12966518 PMID:15294877 PMID:15316973 PMID:16642506 PMID:18708426 PMID:18925670 PMID:20219950 PMID:20301524 PMID:20525296 PMID:21077202 PMID:21077204 PMID:21155763 PMID:21922596 PMID:22052783 PMID:23840040 PMID:24033266 PMID:24598000 PMID:25741868 PMID:27065010 PMID:28492532 PMID:29024831 NCBI chr 5:145,385,433...145,412,180
Ensembl chr 5:151,391,842...151,412,676 		JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAF6 TATA-box binding protein associated factor 6 ISO OMIM NCBI chr 7:92,142,646...92,154,951
Ensembl chr 7:105,575,861...105,588,142 		JBrowse link
Blepharophimosis Syndrome Type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXL2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 1
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:18372316 PMID:20429427 PMID:21889601 PMID:25741868 NCBI chr 3:135,968,040...135,980,063 JBrowse link
Blepharophimosis Syndrome Type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXL2 forkhead box L2 ISO ClinVar Annotator: match by term: Blepharophimosis syndrome type 2 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:18372316 PMID:21325395 PMID:25741868 NCBI chr 3:135,968,040...135,980,063 JBrowse link
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COPB2 COPI coat complex subunit beta 2 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 3:136,394,480...136,426,544
Ensembl chr 3:143,994,312...144,020,117 		JBrowse link
G FOXL2 forkhead box L2 ISO OMIM NCBI chr 3:135,968,040...135,980,063 JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842 		JBrowse link
Duane retraction syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHN1 chimerin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Duane's syndrome		 CTD
ClinVar		 NCBI chr2B:62,074,405...62,283,013 JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO DNA:nonsense mutation:cds:p.R905X (human)
DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human)
DNA:duplication:cds:c.410dupG (human)
DNA:frameshift mutation:cds:p.M640IfsX25 (human)
CTD Direct Evidence: marker/mechanism
DNA:snps, deletions, insertion:multiple (human)		 RGD
CTD		 PMID:12393809 PMID:12395297 PMID:16402211 PMID:16411190 PMID:17216607 PMID:23687435 PMID:26791099 PMID:30067223 RGD:11532205 RGD:11556210 RGD:11556211 RGD:11556215 RGD:11556231 RGD:11556232 NCBI chr20:48,130,387...48,150,569
Ensembl chr20:49,254,039...49,273,589 		JBrowse link
Duane Retraction Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAFB MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Duane syndrome type 1 ClinVar PMID:27181683 NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693 		JBrowse link
Duane Retraction Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHN1 chimerin 1 ISO OMIM NCBI chr2B:62,074,405...62,283,013 JBrowse link
Duane Retraction Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAFB MAF bZIP transcription factor B ISO OMIM NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693 		JBrowse link
esotropia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AUTS2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:30311386 NCBI chr 7:64,822,964...66,015,831
Ensembl chr 7:77,495,909...78,686,763 		JBrowse link
G CENPJ centromere protein J ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868 PMID:30311386 NCBI chr13:6,175,936...6,215,565
Ensembl chr13:24,464,045...24,503,432 		JBrowse link
G GLDC glycine decarboxylase ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:16450403 PMID:30311386 NCBI chr 9:6,347,381...6,456,042
Ensembl chr 9:6,527,242...6,635,779 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 1:8,969,910...9,141,964
Ensembl chr 1:10,198,997...10,364,577 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:28492532 PMID:30311386 NCBI chr 8:140,681,252...140,742,753
Ensembl chr 8:143,674,696...143,712,433 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Esotropia ClinVar PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:22149989 PMID:24033266 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25604658 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 PMID:30311386 NCBI chr13:32,047,830...32,108,573
Ensembl chr13:50,795,701...50,852,909 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:30311386 NCBI chr19:35,527,466...35,685,446
Ensembl chr19:44,106,036...44,256,327 		JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868 NCBI chr 6:10,237,834...10,260,843 JBrowse link
G TTC8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Esodeviation ClinVar PMID:16308660 PMID:21044901 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr14:69,446,355...69,502,351
Ensembl chr14:88,802,812...88,857,055 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Esodeviation ClinVar PMID:1899321 PMID:17952075 PMID:17999355 PMID:25741868 PMID:30311386 NCBI chr11:84,188,557...84,306,686
Ensembl chr11:87,769,606...87,888,138 		JBrowse link
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOBP sine oculis binding protein homolog ISO OMIM NCBI chr 6:105,302,531...105,472,674
Ensembl chr 6:109,168,069...109,337,549 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12806
    sensory system disease 4876
      eye disease 2556
        ocular motility disease 162
          strabismus 54
            3MC syndrome 2 3
            Alazami-Yuan Syndrome 1
            Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
            Duane retraction syndrome + 6
            Hemifacial Hyperplasia with Strabismus 0
            Krauss Herman Holmes Syndrome 0
            MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 1
            McPherson Robertson Cammarano Syndrome 0
            Mehes Syndrome 0
            Ptosis, Strabismus, and Ectopic Pupils 0
            Singh Chhaparwal Dhanda Syndrome 0
            Van Bogaert-Hozay Syndrome 0
            binocular vision disease + 0
            conjugate gaze palsy 0
            cyclotropia 0
            esotropia + 10
            exotropia + 0
            hypertropia 0
            hypotropia 0
            intermittent squint 0
            internuclear ophthalmoplegia 0
            mechanical strabismus + 0
            monofixation syndrome 0
            paralytic squint + 0
Path 2
Term Annotations click to browse term
  disease 12806
    disease of anatomical entity 12341
      nervous system disease 10107
        peripheral nervous system disease 2368
          neuropathy 2213
            cranial nerve disease 444
              ocular motility disease 162
                strabismus 54
                  3MC syndrome 2 3
                  Alazami-Yuan Syndrome 1
                  Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
                  Duane retraction syndrome + 6
                  Hemifacial Hyperplasia with Strabismus 0
                  Krauss Herman Holmes Syndrome 0
                  MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS 1
                  McPherson Robertson Cammarano Syndrome 0
                  Mehes Syndrome 0
                  Ptosis, Strabismus, and Ectopic Pupils 0
                  Singh Chhaparwal Dhanda Syndrome 0
                  Van Bogaert-Hozay Syndrome 0
                  binocular vision disease + 0
                  conjugate gaze palsy 0
                  cyclotropia 0
                  esotropia + 10
                  exotropia + 0
                  hypertropia 0
                  hypotropia 0
                  intermittent squint 0
                  internuclear ophthalmoplegia 0
                  mechanical strabismus + 0
                  monofixation syndrome 0
                  paralytic squint + 0
paths to the root