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
Accession: DOID:540
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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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
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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
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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
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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 PMID:27108799 PMID:27513193 PMID:28087732 PMID:28492532 PMID:30194818 PMID:31735425 PMID:32134617 PMID:32918542 PMID:32963807 PMID:35253369 PMID:36405774 More...
NCBI chr 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726
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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
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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
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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
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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 PMID:20186801 PMID:21590266 PMID:22465605 PMID:22781091 PMID:23624134 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29493581 More...
NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460
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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
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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
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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
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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
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Stxbp1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:20887364 PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26384463 PMID:26865513 PMID:27779742 PMID:28492532 PMID:30185235 PMID:30842647 More...
NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257
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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
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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 PMID:28492532 More...
NCBI chr12:28,644,171...28,673,458
Ensembl chr12:28,644,172...28,673,376
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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
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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 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:19344236 PMID:20219950 PMID:20301483 PMID:20301493 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 More...
NCBI chr18:61,329,926...61,344,668
Ensembl chr18:61,325,991...61,344,684
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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
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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
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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
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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 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:17277738 PMID:18372316 PMID:20429427 PMID:21325395 PMID:21889601 PMID:25741868 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:33538981 More...
NCBI chr 9:98,837,495...98,840,601
Ensembl chr 9:98,837,341...98,840,596
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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 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:21325395 PMID:25741868 PMID:28492532 PMID:31077882 PMID:33538981 More...
NCBI chr 9:98,837,495...98,840,601
Ensembl chr 9:98,837,341...98,840,596
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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
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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
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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 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:17277738 PMID:18372316 PMID:18484667 PMID:18635577 PMID:18642388 PMID:19010791 PMID:19429596 PMID:19515849 PMID:21325395 PMID:22159675 PMID:22312189 PMID:23441113 PMID:25741868 PMID:26323275 PMID:27914838 PMID:28492532 PMID:28849110 PMID:30029625 PMID:30198434 PMID:31048069 PMID:31077882 PMID:31366388 PMID:32454486 PMID:33538981 PMID:33796131 PMID:36338666 PMID:39033378 PMID:11175783 More...
RGD:1598958
NCBI chr 9:98,837,495...98,840,601
Ensembl chr 9:98,837,341...98,840,596
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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
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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
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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
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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
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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 PMID:34374989 More...
NCBI chr 9:37,327,341...37,344,730
Ensembl chr 9:37,326,965...37,344,542
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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
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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
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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 PMID:22058051 PMID:25741868 PMID:27746867 PMID:28492532 More...
NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:16411190 PMID:17216607 PMID:23687435 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
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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
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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
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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 PMID:21555619 PMID:25741868 PMID:28492532 PMID:39033378 More...
NCBI chr 2:73,441,004...73,605,723
Ensembl chr 2:73,441,004...73,605,690
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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
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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
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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
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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
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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
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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
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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
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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
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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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
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
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