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: OMIM: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: Squint
ClinVar
NCBI chr13:98,023,528...98,079,138
Ensembl chr13:98,023,430...98,078,946
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Bmp4
bone morphogenetic protein 4
ISO
RGD
PMID:14710472
RGD:8699500
NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Foxp1
forkhead box P1
ISO
ClinVar Annotator: match by term: Squint
ClinVar
PMID:25741868
NCBI chr 4:131,362,178...131,963,466
Ensembl chr 4:131,366,744...131,694,755
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Gnb1
G protein subunit beta 1
ISO
ClinVar Annotator: match by term: Squint
ClinVar
PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 PMID:27108799 PMID:27513193 PMID:30194818 PMID:31735425 PMID:32963807
NCBI chr 5:172,914,025...172,981,403
Ensembl chr 5:172,934,990...172,979,986
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Med13l
mediator complex subunit 13L
ISO
ClinVar Annotator: match by term: Squint
ClinVar
PMID:25741868
NCBI chr12:43,421,317...43,576,859
Ensembl chr12:43,421,308...43,576,804
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Nf1
neurofibromin 1
ISO
ClinVar Annotator: match by term: Squint
ClinVar
PMID:21520333 PMID:25741868 PMID:28492532
NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
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Olfm3
olfactomedin 3
ISO
ClinVar Annotator: match by term: Susceptibility to strabismus
ClinVar
NCBI chr 2:217,779,983...218,005,710
Ensembl chr 2:217,963,456...218,005,509
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Sil1
SIL1 nucleotide exchange factor
ISO
ClinVar Annotator: match by term: Squint
ClinVar
PMID:32581362
NCBI chr18:28,067,476...28,302,008
Ensembl chr18:28,067,484...28,301,863
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Sox5
SRY-box transcription factor 5
ISO
ClinVar Annotator: match by term: Strabismus
ClinVar
PMID:25741868
NCBI chr 4:178,062,267...179,031,991
Ensembl chr 4:178,066,165...178,441,547
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Colec11
collectin sub-family member 11
ISO
ClinVar Annotator: match by term: Carnevale syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:265050
OMIM ClinVar CTD
PMID:2569826 PMID:8933348 PMID:21258343 PMID:25741868
NCBI chr 6:47,857,767...47,889,961
Ensembl chr 6:47,857,771...47,890,033
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Masp1
MBL associated serine protease 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21258343
NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
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Slc26a2
solute carrier family 26 member 2
ISO
ClinVar Annotator: match by term: OSA syndrome
ClinVar
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:20219950 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
NCBI chr18:56,518,999...56,534,539
Ensembl chr18:56,520,740...56,534,415
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Taf6
TATA-box binding protein associated factor 6
ISO
ClinVar Annotator: match by term: Alazami-Yuan syndrome
ClinVar OMIM
PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868
NCBI chr12:19,320,269...19,328,706
Ensembl chr12:19,320,271...19,328,637
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Foxl2
forkhead box L2
ISO
ClinVar Annotator: match by term: Blepharophimosis syndrome type 1 CTD Direct Evidence: marker/mechanism
ClinVar CTD
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12567411 PMID:12630957 PMID:12938087 PMID:16219626 PMID:17089161 PMID:18372316 PMID:20429427 PMID:21889601 PMID:25741868
NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
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Foxl2
forkhead box L2
ISO
ClinVar Annotator: match by term: Blepharophimosis syndrome type 2
ClinVar
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:18372316 PMID:21325395 PMID:25741868
NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
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Copb2
COPI coat complex subunit beta 2
ISO
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
ClinVar
NCBI chr 8:106,582,339...106,603,763
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Foxl2
forkhead box L2
ISO
DNA:mutations:multiple (human) ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar Annotator: match by term: BPES with Duane retraction syndrome ClinVar Annotator: match by term: BPES with ovarian failure ClinVar Annotator: match by term: BPES without ovarian failure CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:110100
ClinVar CTD OMIM
PMID:11175783 PMID:11468277 PMID:11776388 PMID:12149404 PMID:12161610 PMID:12400065 PMID:12529855 PMID:12630957 PMID:12938087 PMID:16283882 PMID:19429596 PMID:25741868 , PMID:11175783
RGD:1598958
NCBI chr 8:107,194,492...107,197,644
Ensembl chr 8:107,194,551...107,195,675
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Mrps22
mitochondrial ribosomal protein S22
ISO
ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus
ClinVar
NCBI chr 8:106,604,421...106,617,591
Ensembl chr 8:106,604,379...106,617,597
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Chn1
chimerin 1
ISO
ClinVar Annotator: match by term: Duane's syndrome CTD Direct Evidence: marker/mechanism
ClinVar CTD
NCBI chr 3:60,512,360...60,668,413
Ensembl chr 3:60,513,077...60,611,924
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Mafb
MAF bZIP transcription factor B
ISO
CTD Direct Evidence: marker/mechanism
CTD
NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
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Sall4
spalt-like transcription factor 4
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
PMID:16402211 PMID:30067223 , PMID:12393809 , PMID:26791099 , PMID:12395297 , PMID:16411190 , PMID:17216607 , PMID:23687435
RGD:11556210 , RGD:11532205 , RGD:11556232 , RGD:11556231 , RGD:11556215 , RGD:11556211
NCBI chr 3:165,520,155...165,538,176
Ensembl chr 3:165,520,392...165,537,940
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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 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
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Chn1
chimerin 1
ISO
ClinVar Annotator: match by term: Duane syndrome type 2 ClinVar Annotator: match by term: Duane retraction syndrome 2
ClinVar OMIM
PMID:10577917 PMID:10942112 PMID:17197532 PMID:18653847 PMID:20535495 PMID:21555619 PMID:25741868 PMID:28492532
NCBI chr 3:60,512,360...60,668,413
Ensembl chr 3:60,513,077...60,611,924
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Mafb
MAF bZIP transcription factor B
ISO
ClinVar Annotator: match by term: Duane syndrome type 3
ClinVar OMIM
PMID:27181683
NCBI chr 3:156,338,993...156,340,913
Ensembl chr 3:156,339,004...156,340,913
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Tfap2a
transcription factor AP-2 alpha
ISO
ClinVar Annotator: match by term: Convergent strabismus
ClinVar
PMID:25741868
NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
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Sobp
sine oculis binding protein homolog
ISO
ClinVar Annotator: match by term: Mental retardation, anterior maxillary protrusion, and strabismus ClinVar Annotator: match by OMIM:613671
OMIM ClinVar
PMID:17618476 PMID:21035105 PMID:25741868
NCBI chr20:47,731,713...47,910,466
Ensembl chr20:47,750,762...47,910,375
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16123
sensory system disease
5245
eye disease
2673
ocular motility disease
125
strabismus
21
3MC syndrome 2
3
Alazami-Yuan Syndrome
1
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
0
Duane retraction syndrome +
6
Hemifacial Hyperplasia with Strabismus
0
Krauss Herman Holmes Syndrome
0
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
1
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
0
cyclotropia
0
esotropia +
1
exotropia +
0
hypertropia
0
hypotropia
0
intermittent squint
0
internuclear ophthalmoplegia
0
mechanical strabismus +
0
monofixation syndrome
0
paralytic squint +
0
Path 2
disease
16123
disease of anatomical entity
15370
nervous system disease
10975
peripheral nervous system disease
2430
neuropathy
2245
cranial nerve disease
407
ocular motility disease
125
strabismus
21
3MC syndrome 2
3
Alazami-Yuan Syndrome
1
Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease
0
Duane retraction syndrome +
6
Hemifacial Hyperplasia with Strabismus
0
Krauss Herman Holmes Syndrome
0
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS
1
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
0
cyclotropia
0
esotropia +
1
exotropia +
0
hypertropia
0
hypotropia
0
intermittent squint
0
internuclear ophthalmoplegia
0
mechanical strabismus +
0
monofixation syndrome
0
paralytic squint +
0