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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 1:179,572,469...179,631,580
Ensembl chr 1:179,572,459...179,631,245
JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:14710472 RGD:8699500 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr 6:98,902,303...99,510,587
Ensembl chr 6:98,902,299...99,499,682
JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726
JBrowse link
G Med13l mediator complex subunit 13-like ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr 5:118,698,363...118,903,503
Ensembl chr 5:118,698,744...118,903,503
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:21520333 PMID:25741868 PMID:28492532 PMID:33471991 NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438
JBrowse link
G Olfm3 olfactomedin 3 ISO ClinVar Annotator: match by term: Strabismus, susceptibility to ClinVar NCBI chr 3:114,697,727...114,919,413
Ensembl chr 3:114,697,727...114,919,371
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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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 9:108,385,204...108,393,140
Ensembl chr 9:108,384,905...108,393,140
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:25741868 NCBI chr 9:21,527,377...21,615,526
Ensembl chr 9:21,527,465...21,615,526
JBrowse link
G Sox3 SRY (sex determining region Y)-box 3 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:59,934,972...59,937,045
Ensembl chr  X:59,934,972...59,937,036
JBrowse link
G Sox5 SRY (sex determining region Y)-box 5 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr 6:143,774,151...144,728,008
Ensembl chr 6:143,774,151...144,727,703
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 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257
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 1:167,136,239...167,161,547
Ensembl chr 1:167,135,947...167,161,547
JBrowse link
3MC syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Colec11 collectin sub-family member 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: 3MC syndrome 2 | ClinVar Annotator: match by term: COLEC11-related condition
OMIM
CTD
ClinVar
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868 PMID:28301481 More... NCBI chr12:28,644,171...28,673,458
Ensembl chr12:28,644,172...28,673,376
JBrowse link
G Masp1 MBL associated serine protease 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr16:23,261,778...23,340,127
Ensembl chr16:23,268,167...23,339,565
JBrowse link
G Slc26a2 solute carrier family 26 (sulfate transporter), member 2 ISO ClinVar Annotator: match by term: OSA syndrome ClinVar PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684
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 AP-4, 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 5:138,170,283...138,178,691
Ensembl chr 5:138,170,264...138,178,691
JBrowse link
G Larp7 La ribonucleoprotein 7, transcriptional regulator ISO ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar PMID:25741868 NCBI chr 3:127,330,363...127,346,998
Ensembl chr 3:127,330,363...127,346,998
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 5:138,176,879...138,185,713
Ensembl chr 5:138,176,879...138,185,713
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I | ClinVar Annotator: match by term: Blepharophimosis, ptosis, epicanthus inversus type 1
CTD
ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 More... NCBI chr 9:98,837,495...98,840,601
Ensembl chr 9:98,837,341...98,840,596
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 9:98,837,495...98,840,601
Ensembl chr 9:98,837,341...98,840,596
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 9:98,445,784...98,470,428
Ensembl chr 9:98,445,774...98,470,435
JBrowse link
G E330023G01Rik RIKEN cDNA E330023G01 gene IAGP OMIM:110100 MouseDO NCBI chr 9:98,630,652...98,702,140
Ensembl chr 9:98,626,226...98,725,341
JBrowse link
G Foxl2 forkhead box L2 ISO
IAGP
DNA:mutations:multiple (human)
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
CTD Direct Evidence: marker/mechanism
OMIM:110100
ClinVar
CTD
MouseDO
OMIM
RGD
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 More... RGD:1598958 NCBI chr 9:98,837,495...98,840,601
Ensembl chr 9:98,837,341...98,840,596
JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus syndrome ClinVar NCBI chr 9:98,470,783...98,483,732
Ensembl chr 9:98,470,783...98,483,713
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 2:160,205,597...160,208,985
Ensembl chr 2:160,205,623...160,208,985
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 chr12:65,012,350...65,069,347
Ensembl chr12:65,012,578...65,069,347
JBrowse link
G Tubb4a tubulin, beta 4A class IVA ISO ClinVar Annotator: match by term: Brown syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr17:57,387,061...57,394,600
Ensembl chr17:57,387,066...57,394,782
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 9:37,327,341...37,344,730
Ensembl chr 9:37,326,965...37,344,542
JBrowse link
Duane retraction syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actr1b ARP1 actin-related protein 1B, centractin beta ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 1:36,737,195...36,749,051
Ensembl chr 1:36,737,195...36,753,503
JBrowse link
G Chn1 chimerin 1 ISO
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Duane retraction syndrome
OMIM:126800 | OMIM:604356
CTD
ClinVar
MouseDO
PMID:25741868 NCBI chr 2:73,441,004...73,605,723
Ensembl chr 2:73,441,004...73,605,690
JBrowse link
G Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:7695699 PMID:8218237 PMID:11167698 PMID:19344236 PMID:21448560 More... NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943
JBrowse link
G Cux1 cut-like homeobox 1 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 5:136,276,989...136,596,429
Ensembl chr 5:136,276,989...136,596,344
JBrowse link
G Fer FER tyrosine kinase ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr17:64,136,945...64,453,515
Ensembl chr17:64,170,057...64,446,491
JBrowse link
G Foxl2 forkhead box L2 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr 9:98,837,495...98,840,601
Ensembl chr 9:98,837,341...98,840,596
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 chr 2:174,126,113...174,188,537
Ensembl chr 2:174,126,113...174,188,537
JBrowse link
G Gnasas1 GNAS antisense RNA 1 ISO ClinVar Annotator: match by term: Duane anomaly ClinVar PMID:25741868 NCBI chr 2:174,123,030...174,137,229
Ensembl chr 2:174,108,218...174,137,279
JBrowse link
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 NCBI chr 2:49,509,298...49,664,790
Ensembl chr 2:49,509,310...49,664,790
JBrowse link
G Mafb MAF bZIP transcription factor B IAGP
ISO
OMIM:126800 | OMIM:604356
CTD Direct Evidence: marker/mechanism
MouseDO
CTD
NCBI chr 2:160,205,597...160,208,985
Ensembl chr 2:160,205,623...160,208,985
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 chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
JBrowse link
G Sall4 spalt like transcription factor 4 ISO
IMP
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 chr 2:168,590,252...168,609,121
Ensembl chr 2:168,590,252...168,609,863
JBrowse link
G Tuba8 tubulin, alpha 8 ISO ClinVar Annotator: match by term: Duane retraction syndrome ClinVar PMID:25741868 PMID:39033378 NCBI chr 6:121,187,666...121,209,304
Ensembl chr 6:121,187,655...121,203,813
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 2:160,205,597...160,208,985
Ensembl chr 2:160,205,623...160,208,985
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 chr 2:73,441,004...73,605,723
Ensembl chr 2:73,441,004...73,605,690
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 2:160,205,597...160,208,985
Ensembl chr 2:160,205,623...160,208,985
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 chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852
JBrowse link
exotropia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Auts2 autism susceptibility candidate 2 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:131,466,171...132,572,059
Ensembl chr 5:131,466,171...132,572,183
JBrowse link
G Cdh3 cadherin 3 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr 8:107,237,484...107,283,543
Ensembl chr 8:107,237,523...107,283,929
JBrowse link
G Col4a2 collagen, type IV, alpha 2 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:28492532 NCBI chr 8:11,362,878...11,499,287
Ensembl chr 8:11,362,805...11,499,287
JBrowse link
G Herc2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar NCBI chr 7:55,699,872...55,884,373
Ensembl chr 7:55,699,944...55,881,548
JBrowse link
G Loxhd1 lipoxygenase homology domains 1 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:24033266 PMID:26467025 PMID:28492532 PMID:29799290 PMID:30311386 NCBI chr18:77,369,354...77,530,628
Ensembl chr18:77,369,654...77,530,626
JBrowse link
G Pomgnt2 protein O-linked mannose beta 1,4-N-acetylglucosaminyltransferase 2 ISO ClinVar Annotator: match by term: concomitant exotropia ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:121,810,675...121,825,116
Ensembl chr 9:121,810,672...121,826,176
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 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 chr10:42,878,484...43,059,144
Ensembl chr10:42,878,496...43,050,526
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16271
    sensory system disease 7186
      eye disease 3716
        ocular motility disease 274
          strabismus 46
            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 + 16
            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 16271
    disease of anatomical entity 15862
      nervous system disease 13796
        Neurologic Manifestations 10201
          sensory system disease 7186
            eye disease 3716
              refractive error 246
                hyperopia 53
                  strabismus 46
                    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 + 16
                    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