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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.


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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 chr25:83,889,934...83,978,965
Ensembl chr25:83,892,508...83,978,935
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:14710472 RGD:8699500 NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225
JBrowse link
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr22:31,907,941...32,538,294
Ensembl chr22:31,912,460...32,154,502
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 chr20:129,654,890...129,765,765
Ensembl chr20:129,707,085...129,766,667
JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr11:111,245,201...111,563,485
Ensembl chr11:111,243,753...111,563,663
JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:21520333 PMID:25741868 PMID:28492532 PMID:33471991 NCBI chr16:24,550,983...24,836,311
Ensembl chr16:24,550,977...24,836,307
JBrowse link
G OLFM3 olfactomedin 3 ISO ClinVar Annotator: match by term: Strabismus, susceptibility to ClinVar NCBI chr20:31,365,222...31,565,127
Ensembl chr20:31,530,708...31,562,665
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 chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
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 chr22:10,497,921...10,507,673
Ensembl chr22:10,497,658...10,507,325
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 chr 6:9,943,162...10,044,476 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:115,608,059...115,610,248
Ensembl chr  X:115,608,810...115,610,150
JBrowse link
G SOX5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr11:23,298,622...24,131,712
Ensembl chr11:23,303,325...23,715,492
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 chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777
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 chr25:63,110,626...63,150,602
Ensembl chr25:63,110,772...63,150,017
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 chr14:104,002,207...104,057,372
Ensembl chr14:104,002,211...104,057,174
JBrowse link
G MASP1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr15:81,488,306...81,563,302
Ensembl chr15:81,488,099...81,563,679
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 chr23:52,565,322...52,598,237
Ensembl chr23:52,565,409...52,592,657
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 chr28:12,971,007...12,976,914
Ensembl chr28:12,971,297...12,976,779
JBrowse link
G LARP7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 NCBI chr 7:60,407,137...60,429,885
Ensembl chr 7:60,406,618...60,430,080
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 chr28:12,958,555...12,971,100
Ensembl chr28:12,963,609...12,973,368
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 chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348
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 chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348
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 chr15:51,165,275...51,197,971 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 chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348
JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome ClinVar NCBI chr15:51,198,515...51,211,587
Ensembl chr15:51,198,553...51,211,532
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 chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684
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 chr24:22,078,938...22,195,923
Ensembl chr24:22,078,158...22,195,917
JBrowse link
G TUBB4A tubulin beta 4A class IVa ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr 6:6,104,265...6,111,966
Ensembl chr 6:6,094,130...6,111,762
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 chr 1:116,004,129...116,024,691
Ensembl chr 1:116,008,742...116,024,474
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 chr14:1,342,290...1,350,496
Ensembl chr14:1,342,100...1,350,197
JBrowse link
G CHN1 chimerin 1 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr10:60,334,829...60,540,309
Ensembl chr10:60,331,214...60,488,785
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 chr22:9,964,652...9,996,785
Ensembl chr22:9,964,651...9,996,626
JBrowse link
G CUX1 cut like homeobox 1 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr28:10,901,529...11,370,834
Ensembl chr28:10,937,512...11,370,702
JBrowse link
G FER FER tyrosine kinase ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr23:12,252,135...12,629,584
Ensembl chr23:12,192,800...12,620,443
JBrowse link
G FOXL2 forkhead box L2 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr15:51,595,806...51,598,124
Ensembl chr15:51,596,218...51,597,348
JBrowse link
G KIF5C kinesin family member 5C ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr10:34,285,048...34,441,918
Ensembl chr10:34,285,037...34,444,863
JBrowse link
G LOC103243509 neuroendocrine secretory protein 55 ISO ClinVar Annotator: match by term: Duane anomaly | ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 2:5,233,893...5,303,433
Ensembl chr 2:5,233,874...5,249,192
JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism
OMIM:126800 | OMIM:604356
CTD
MouseDO
NCBI chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684
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 chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637
JBrowse link
G SALL4 spalt like transcription factor 4 ISO DNA:frameshift mutation:cds:p.M640IfsX25 (human)
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:snps, deletions, insertion:multiple (human)
CTD Direct Evidence: marker/mechanism
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 chr 2:12,179,721...12,199,629
Ensembl chr 2:12,182,357...12,199,321
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 chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684
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 chr10:60,334,829...60,540,309
Ensembl chr10:60,331,214...60,488,785
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 chr 2:23,092,547...23,097,721
Ensembl chr 2:23,094,713...23,095,684
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 chr17:61,750,757...61,769,041 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 chr28:4,565,958...5,759,088
Ensembl chr28:4,567,622...4,595,056
JBrowse link
G CDH3 cadherin 3 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr 5:58,717,600...58,775,033
Ensembl chr 5:58,717,597...58,775,339
JBrowse link
G COL4A2 collagen type IV alpha 2 chain ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr 3:88,564,328...88,760,191
Ensembl chr 3:88,563,903...88,760,411
JBrowse link
G HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar NCBI chr26:53,760,172...54,007,356
Ensembl chr26:53,792,593...54,007,489
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 chr18:34,247,584...34,431,038
Ensembl chr18:34,249,250...34,430,532
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 chr22:4,521,925...4,548,431 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 chr13:66,202,747...66,374,992
Ensembl chr13:66,227,944...66,374,736
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    sensory system disease 6938
      eye disease 3569
        ocular motility disease 254
          strabismus 43
            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 + 13
            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 15417
    disease of anatomical entity 15080
      nervous system disease 13230
        Neurologic Manifestations 9820
          sensory system disease 6938
            eye disease 3569
              refractive error 238
                hyperopia 50
                  strabismus 43
                    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 + 13
                    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