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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: MIM: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: Strabismus 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 FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Strabismus 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: Strabismus ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr12:113,531,181...113,850,854
Ensembl chr12:116,909,244...117,065,649
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:21520333 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29089047 More... 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: Strabismus, susceptibility to ClinVar NCBI chr 1:104,451,488...104,651,208
Ensembl chr 1:103,168,819...103,364,306
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:15985475 PMID:17020470 PMID:17546245 PMID:18470943 PMID:19077116 More... NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 NCBI chr 3:49,020,310...49,029,443
Ensembl chr 3:50,100,216...50,125,112
JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
JBrowse link
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:129,654,296...129,656,446 JBrowse link
G SOX5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 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: Strabismus ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chr 9:98,731,527...98,811,608
Ensembl chr 9:127,434,080...127,486,152
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr 1:141,159,657...141,201,018
Ensembl chr 1:144,944,105...144,989,794
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 ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition OMIM
ClinVar
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr2A:3,610,679...3,659,739
Ensembl chr2A:3,529,358...3,579,517
JBrowse link
G MASP1 MBL associated serine protease 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:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... 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 AP4M1 adaptor related protein complex 4 subunit mu 1 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:92,137,085...92,142,756
Ensembl chr 7:105,570,205...105,575,971
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 NCBI chr 4:105,128,335...105,149,498
Ensembl chr 4:115,698,093...115,711,003
JBrowse link
G TAF6 TATA-box binding protein associated factor 6 ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition OMIM
ClinVar
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 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, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1 ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... 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, PTOSIS, AND EPICANTHUS INVERSUS, TYPE II | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure ClinVar PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... 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 syndrome 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 ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus | ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome | ClinVar Annotator: match by term: FOXL2-related condition OMIM
ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 More... 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 syndrome ClinVar NCBI chr 3:136,380,963...136,394,148
Ensembl chr 3:143,980,670...143,993,842
JBrowse link
BROWN SYNDROME 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: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693
JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr14:25,579,069...25,691,273
Ensembl chr14:43,907,049...44,018,042
JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr19:5,521,425...5,529,958
Ensembl chr19:6,441,323...6,451,785
JBrowse link
conjugate gaze palsy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ROBO3 roundabout guidance receptor 3 ISO ClinVar Annotator: match by term: Conjugate gaze palsy ClinVar PMID:15105459 PMID:16525029 PMID:21850172 PMID:25741868 PMID:32373565 More... NCBI chr11:119,692,232...119,708,309
Ensembl chr11:123,607,268...123,623,356
JBrowse link
Duane retraction syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTR1B actin related protein 1B ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr2A:101,659,316...101,667,402
Ensembl chr2A:98,555,298...98,563,389
JBrowse link
G CHN1 chimerin 1 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr2B:62,074,405...62,283,013 JBrowse link
G COL7A1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:7695699 PMID:8218237 PMID:11167698 PMID:19344236 PMID:21448560 More... NCBI chr 3:48,485,922...48,518,036
Ensembl chr 3:49,568,163...49,598,919
JBrowse link
G CUX1 cut like homeobox 1 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 7:93,954,599...94,432,697
Ensembl chr 7:107,191,124...107,609,940
JBrowse link
G FER FER tyrosine kinase ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 5:104,099,620...104,548,077
Ensembl chr 5:109,964,823...110,350,576
JBrowse link
G FOXL2 forkhead box L2 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr 3:135,968,040...135,980,063 JBrowse link
G GNAS GNAS complex locus ISO ClinVar Annotator: match by term: Duane anomaly | ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr20:55,190,607...55,262,245 JBrowse link
G KIF5C kinesin family member 5C ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr2B:10,836,356...10,987,683
Ensembl chr2B:153,235,329...153,387,221
JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism
OMIM:126800 | OMIM:604356
CTD
MouseDO
NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr12:110,016,364...110,107,462
Ensembl chr12:113,435,669...113,503,762
JBrowse link
G SALL4 spalt like transcription factor 4 ISO DNA:duplication:cds:c.410dupG (human)
DNA:snps, deletions, insertion:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human)
DNA:nonsense mutation:cds:p.R905X (human)
DNA:frameshift mutation:cds:p.M640IfsX25 (human)
RGD
CTD
PMID:12393809 PMID:12395297 PMID:16402211 PMID:16411190 PMID:17216607 More... 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
G TUBA8 tubulin alpha 8 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr22:1,541,154...1,561,852
Ensembl chr22:16,936,405...16,989,730
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 ClinVar Annotator: match by term: CHN1-related condition | ClinVar Annotator: match by term: Duane retraction syndrome 2 OMIM
ClinVar
PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 More... 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 ClinVar Annotator: match by term: Duane retraction syndrome 3 | ClinVar Annotator: match by term: Duane retraction syndrome 3 with or without deafness OMIM
ClinVar
PMID:20436469 PMID:24989131 PMID:25741868 PMID:27181683 PMID:28492532 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 TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Esotropia ClinVar PMID:25741868 NCBI chr 6:10,237,834...10,260,843 JBrowse link
exotropia 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: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:64,822,964...66,015,831
Ensembl chr 7:77,495,909...78,686,763
JBrowse link
G CDH3 cadherin 3 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr16:49,015,115...49,071,903
Ensembl chr16:68,407,625...68,465,287
JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr13:91,440,314...91,650,138
Ensembl chr13:110,563,119...110,767,530
JBrowse link
G LOC100976978 E3 ubiquitin-protein ligase HERC2 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar NCBI chr15:1,590,558...1,800,023
Ensembl chr15:25,536,483...25,746,074
JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386 NCBI chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921
JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:42,973,492...42,997,288
Ensembl chr 3:44,035,815...44,037,557
JBrowse link
Impaired intellectual development, 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 ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus | ClinVar Annotator: match by term: SOBP-related condition OMIM
ClinVar
PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 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 15832
    sensory system disease 7062
      eye disease 3623
        ocular motility disease 253
          strabismus 44
            3MC syndrome 2 3
            Alazami-Yuan Syndrome 3
            BROWN SYNDROME 3
            Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
            Duane retraction syndrome + 14
            Hemifacial Hyperplasia with Strabismus 0
            Impaired intellectual development, anterior maxillary protrusion, and strabismus 1
            Krauss Herman Holmes Syndrome 0
            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 1
            cyclotropia 0
            esotropia + 1
            exotropia + 6
            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 15832
    disease of anatomical entity 15489
      nervous system disease 13586
        Neurologic Manifestations 10057
          sensory system disease 7062
            eye disease 3623
              refractive error 240
                hyperopia 51
                  strabismus 44
                    3MC syndrome 2 3
                    Alazami-Yuan Syndrome 3
                    BROWN SYNDROME 3
                    Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
                    Duane retraction syndrome + 14
                    Hemifacial Hyperplasia with Strabismus 0
                    Impaired intellectual development, anterior maxillary protrusion, and strabismus 1
                    Krauss Herman Holmes Syndrome 0
                    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 1
                    cyclotropia 0
                    esotropia + 1
                    exotropia + 6
                    hypertropia 0
                    hypotropia 0
                    intermittent squint 0
                    internuclear ophthalmoplegia 0
                    mechanical strabismus + 0
                    monofixation syndrome 0
                    paralytic squint + 0
paths to the root