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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 IAGP ClinVar Annotator: match by term: Strabismus ClinVar NCBI chr 1:246,839,098...246,931,948
Ensembl chr 1:246,839,098...246,931,948
JBrowse link
G BMP4 bone morphogenetic protein 4 IEP RGD PMID:14710472 RGD:8699500 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G FOXP1 forkhead box P1 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978
JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292
JBrowse link
G MED13L mediator complex subunit 13L IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693
JBrowse link
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:21520333 PMID:25741868 PMID:26467025 PMID:28492532 PMID:29089047 More... NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116
JBrowse link
G OLFM3 olfactomedin 3 IAGP ClinVar Annotator: match by term: Strabismus, susceptibility to ClinVar NCBI chr 1:101,802,560...101,996,926
Ensembl chr 1:101,802,560...101,996,926
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:15985475 PMID:17020470 PMID:17546245 PMID:18470943 PMID:19077116 More... NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:28492532 PMID:30755392 PMID:31618474 NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130
JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069
JBrowse link
G SOX5 SRY-box transcription factor 5 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544
JBrowse link
G STXBP1 syntaxin binding protein 1 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 More... NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
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 IAGP
EXP
ClinVar Annotator: match by term: 3MC syndrome 2
ClinVar Annotator: match by term: COLEC11-related condition
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644
JBrowse link
G MASP1 MBL associated serine protease 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980
JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455
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 IAGP ClinVar Annotator: match by term: TAF6-related condition
ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition
ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator IAGP ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,077...112,657,696
JBrowse link
G TAF6 TATA-box binding protein associated factor 6 IAGP ClinVar Annotator: match by term: Alazami-Yuan syndrome
ClinVar Annotator: match by term: Alazami-Yuan syndrome | ClinVar Annotator: match by term: TAF6-related condition
ClinVar
OMIM
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 PMID:28492532 NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841
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 IAGP
EXP
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1
ClinVar
CTD
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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 IAGP 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 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
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 IAGP ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome ClinVar NCBI chr 3:139,357,406...139,389,680
Ensembl chr 3:139,353,946...139,389,736
JBrowse link
G FOXL2 forkhead box L2 IAGP
ISS
EXP
DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome | ClinVar Annotator: match by term: FOXL2-related condition
OMIM:110100
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 More... RGD:1598958 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 IAGP ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome ClinVar NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497
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 IAGP ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G TOGARAM1 TOG array regulator of axonemal microtubules 1 IAGP ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431
JBrowse link
G TUBB4A tubulin beta 4A class IVa IAGP ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr19:6,494,319...6,502,848
Ensembl chr19:6,494,319...6,502,848
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 IAGP ClinVar Annotator: match by term: Conjugate gaze palsy ClinVar PMID:15105459 PMID:16525029 PMID:21850172 PMID:25741868 PMID:32373565 More... NCBI chr11:124,865,432...124,881,471
Ensembl chr11:124,865,432...124,881,471
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 IAGP ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 2:97,655,939...97,664,044
Ensembl chr 2:97,655,939...97,664,044
JBrowse link
G CHN1 chimerin 1 EXP
IAGP
ISS
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Duane retraction syndrome
OMIM:126800 | OMIM:604356
CTD
ClinVar
MouseDO
PMID:25741868 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:7695699 PMID:8218237 PMID:11167698 PMID:19344236 PMID:21448560 More... NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
JBrowse link
G CUX1 cut like homeobox 1 IAGP ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958
JBrowse link
G FER FER tyrosine kinase IAGP ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 5:108,747,897...109,196,841
Ensembl chr 5:108,747,841...109,196,841
JBrowse link
G FOXL2 forkhead box L2 IAGP ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137
JBrowse link
G GNAS GNAS complex locus IAGP ClinVar Annotator: match by term: Duane anomaly | ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr20:58,839,748...58,911,192
Ensembl chr20:58,839,718...58,911,192
JBrowse link
G GNAS-AS1 GNAS antisense RNA 1 IAGP ClinVar Annotator: match by term: Duane anomaly ClinVar PMID:25741868 NCBI chr20:58,818,918...58,850,902
Ensembl chr20:58,818,893...58,855,296
JBrowse link
G KIF5C kinesin family member 5C IAGP ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 2:148,875,227...149,026,759
Ensembl chr 2:148,875,227...149,026,759
JBrowse link
G MAFB MAF bZIP transcription factor B EXP
ISS
CTD Direct Evidence: marker/mechanism
OMIM:126800 | OMIM:604356
CTD
MouseDO
NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G SALL4 spalt like transcription factor 4 IAGP
EXP
ISO
DNA:snps, deletions, insertion:multiple (human)
CTD Direct Evidence: marker/mechanism
DNA:duplication:cds:c.410dupG (human)
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)
CTD
RGD
PMID:16402211 PMID:30067223 PMID:12393809 PMID:26791099 PMID:12395297 More... RGD:11556210, RGD:11532205, RGD:11556232, RGD:11556231, RGD:11556215, RGD:11556211 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521
JBrowse link
G TUBA8 tubulin alpha 8 IAGP ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr22:18,110,809...18,131,732
Ensembl chr22:18,110,100...18,146,683
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 IAGP ClinVar Annotator: match by term: Duane syndrome type 1 ClinVar PMID:27181683 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
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 IAGP ClinVar Annotator: match by term: Duane retraction syndrome 2
ClinVar Annotator: match by term: CHN1-related condition | ClinVar Annotator: match by term: Duane retraction syndrome 2
ClinVar
OMIM
PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 More... NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381
JBrowse link
G LOC126806410 MED14-independent group 3 enhancer GRCh37_chr2:175778728-175779927 IAGP ClinVar Annotator: match by term: Duane retraction syndrome 2 ClinVar PMID:20535495 PMID:28492532 NCBI chr 2:174,914,000...174,915,199 JBrowse link
G LOC129935151 ATAC-STARR-seq lymphoblastoid silent region 12131 IAGP ClinVar Annotator: match by term: Duane retraction syndrome 2 ClinVar NCBI chr 2:175,005,082...175,005,141 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 IAGP 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 chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
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 IAGP ClinVar Annotator: match by term: Esotropia ClinVar PMID:25741868 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
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 IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
JBrowse link
G CDH3 cadherin 3 IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
JBrowse link
G COL4A2 collagen type IV alpha 2 chain IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr13:110,307,284...110,513,209
Ensembl chr13:110,305,812...110,513,209
JBrowse link
G COL4A2-AS1 COL4A2 antisense RNA 1 IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr13:110,502,576...110,508,179
Ensembl chr13:110,502,575...110,508,179
JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386 NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220
JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085
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 IAGP 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 6:107,490,117...107,661,306
Ensembl chr 6:107,490,106...107,661,306
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121157
    sensory system disease 24596
      eye disease 8768
        ocular motility disease 365
          strabismus 54
            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 + 17
            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 + 7
            hypertropia 0
            hypotropia 0
            intermittent squint 0
            internuclear ophthalmoplegia 0
            mechanical strabismus + 0
            monofixation syndrome 0
            paralytic squint + 6
Path 2
Term Annotations click to browse term
  disease 121157
    disease of anatomical entity 111928
      nervous system disease 58678
        Neurologic Manifestations 35780
          sensory system disease 24596
            eye disease 8768
              refractive error 436
                hyperopia 61
                  strabismus 54
                    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 + 17
                    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 + 7
                    hypertropia 0
                    hypotropia 0
                    intermittent squint 0
                    internuclear ophthalmoplegia 0
                    mechanical strabismus + 0
                    monofixation syndrome 0
                    paralytic squint + 6
paths to the root