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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: OMIM: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: Squint ClinVar NCBI chr10:15,042,168...15,121,885
Ensembl chr10:15,042,170...15,132,654 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO RGD PMID:14710472 RGD:8699500 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 4:115,638,381...115,841,679
Ensembl chr 4:115,540,950...115,840,708 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 PMID:30311386 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003 		JBrowse link
G COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr15:128,611,640...128,763,331
Ensembl chr15:128,611,866...128,763,122 		JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 1:273,934,219...274,083,264
Ensembl chr 1:273,971,971...274,085,426 		JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,143,939...13,209,224 		JBrowse link
G EIF4A1 eukaryotic translation initiation factor 4A1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr12:52,868,479...52,874,248
Ensembl chr12:52,868,431...52,874,249 		JBrowse link
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 NCBI chr13:52,346,844...52,974,358
Ensembl chr13:52,347,849...52,974,261 		JBrowse link
G 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:32963807 NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,155...63,924,535 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 6:82,014,022...82,050,240
Ensembl chr 6:82,014,046...82,050,236 		JBrowse link
G LSM1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:31010896 NCBI chr15:48,348,653...48,360,004
Ensembl chr15:48,347,864...48,385,464 		JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 NCBI chr14:36,061,834...36,384,567
Ensembl chr14:36,064,067...36,384,562 		JBrowse link
G MITF melanocyte inducing transcription factor ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr13:51,177,356...51,422,096
Ensembl chr13:51,178,203...51,422,096 		JBrowse link
G MYH3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Congenital strabismus ClinVar PMID:30311386 NCBI chr12:55,351,152...55,373,236
Ensembl chr12:55,347,087...55,375,353 		JBrowse link
G MYH9 myosin heavy chain 9 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 5:11,365,603...11,456,475 JBrowse link
G NEK1 NIMA related kinase 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr14:20,144,631...20,332,248
Ensembl chr14:20,144,659...20,332,246 		JBrowse link
G NF1 neurofibromin 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:21520333 PMID:28492532 PMID:30311386 NCBI chr12:43,487,098...43,754,205
Ensembl chr12:43,489,171...43,754,176 		JBrowse link
G OLFM3 olfactomedin 3 ISO ClinVar Annotator: match by term: Susceptibility to strabismus ClinVar NCBI chr 4:116,428,889...116,626,134
Ensembl chr 4:116,429,181...116,623,933 		JBrowse link
G PCGF3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 8:140,435...189,796
Ensembl chr 8:140,446...182,261 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,754...151,192,647 		JBrowse link
G PDHX pyruvate dehydrogenase complex component X ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 2:26,014,954...26,094,895
Ensembl chr 2:26,014,970...26,103,402 		JBrowse link
G PMM2 phosphomannomutase 2 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:19862844 PMID:21541725 PMID:28492532 PMID:30311386 NCBI chr 3:33,857,059...33,892,472
Ensembl chr 3:33,857,068...33,893,396 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,861...55,272,166 		JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 9:103,460,855...103,963,728
Ensembl chr 9:103,460,857...103,963,965 		JBrowse link
G SIL1 SIL1 nucleotide exchange factor ISO ClinVar Annotator: match by term: Squint ClinVar PMID:32581362 NCBI chr 2:140,884,170...141,118,201
Ensembl chr 2:140,878,070...141,118,059 		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:30311386 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298 		JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr 3:101,209,568...101,366,057
Ensembl chr 3:101,089,243...101,362,723 		JBrowse link
G SOX5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:30311386 NCBI chr 5:49,159,950...50,166,463
Ensembl chr 5:49,160,723...50,161,570 		JBrowse link
G STXBP1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:22612257 PMID:25741868 PMID:25758715 PMID:25818041 PMID:26865513 NCBI chr 1:268,116,124...268,205,805
Ensembl chr 1:268,116,118...268,213,921 		JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr 7:7,221,654...7,244,626
Ensembl chr 7:7,221,656...7,244,477 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:30311386 NCBI chr13:16,784,370...16,875,828
Ensembl chr13:16,784,491...16,878,165 		JBrowse link
G UBTF upstream binding transcription factor ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr12:18,989,833...19,006,145
Ensembl chr12:18,989,836...19,006,141 		JBrowse link
G ZDHHC9 zinc finger DHHC-type palmitoyltransferase 9 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:30311386 NCBI chr  X:106,397,139...106,436,103
Ensembl chr  X:106,401,244...106,436,014 		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 OMIM NCBI chr 3:131,226,941...131,254,555
Ensembl chr 3:131,226,798...131,254,551 		JBrowse link
G MASP1 mannan binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr13:124,938,469...125,028,440
Ensembl chr13:124,955,029...125,054,463 		JBrowse link
G 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 chr 2:150,996,868...151,027,483
Ensembl chr 2:150,996,727...151,022,148 		JBrowse link
Alazami-Yuan Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAF6 TATA-box binding protein associated factor 6 ISO OMIM NCBI chr 3:8,017,675...8,026,982
Ensembl chr 3:8,017,674...8,026,972 		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 syndrome 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:18372316 PMID:20429427 PMID:21889601 PMID:25741868 NCBI chr13:79,708,693...79,709,825
Ensembl chr13:79,709,013...79,709,825 		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 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 chr13:79,708,693...79,709,825
Ensembl chr13:79,709,013...79,709,825 		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 ClinVar NCBI chr13:80,220,460...80,264,808
Ensembl chr13:80,218,984...80,264,764 		JBrowse link
G FOXL2 forkhead box L2 ISO OMIM NCBI chr13:79,708,693...79,709,825
Ensembl chr13:79,709,013...79,709,825 		JBrowse link
G MRPS22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr13:80,006,656...80,232,107
Ensembl chr13:79,981,676...80,232,774 		JBrowse link
Duane retraction syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHN1 chimerin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Duane's syndrome		 CTD
ClinVar		 NCBI chr15:80,731,243...80,927,746
Ensembl chr15:80,730,692...80,927,746 		JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:43,408,390...43,411,782 JBrowse link
G SALL4 spalt like transcription factor 4 ISO DNA:snps, deletions, insertion:multiple (human)
DNA:duplication:cds:c.410dupG (human)
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation:cds:p.R905X (human)
DNA:frameshift mutation:cds:p.M640IfsX25 (human)
DNA:deletions, nonsense mutation:cds:c.1904delT, c.2425delG, p.R865X (human)		 RGD
CTD		 PMID:12393809 PMID:12395297 PMID:16402211 PMID:16411190 PMID:17216607 PMID:23687435 PMID:26791099 PMID:30067223 RGD:11532205 RGD:11556210 RGD:11556211 RGD:11556215 RGD:11556231 RGD:11556232 NCBI chr17:53,082,610...53,103,023
Ensembl chr17:52,936,173...53,103,190 		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 chr17:43,408,390...43,411,782 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 OMIM NCBI chr15:80,731,243...80,927,746
Ensembl chr15:80,730,692...80,927,746 		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 OMIM NCBI chr17:43,408,390...43,411,782 JBrowse link
esotropia 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: Convergent strabismus ClinVar PMID:30311386 NCBI chr 3:13,565,439...14,794,365
Ensembl chr 3:13,565,480...14,794,365 		JBrowse link
G CENPJ centromere protein J ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868 PMID:30311386 NCBI chr11:289,660...357,920
Ensembl chr11:289,653...357,155 		JBrowse link
G GLDC glycine decarboxylase ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:16450403 PMID:30311386 NCBI chr 1:215,608,854...215,715,062
Ensembl chr 1:215,608,849...215,715,061 		JBrowse link
G KIF1B kinesin family member 1B ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 6:70,495,143...70,663,464
Ensembl chr 6:70,495,144...70,663,463 		JBrowse link
G PLEC plectin ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:28492532 PMID:30311386 NCBI chr 4:696,355...753,859
Ensembl chr 4:685,456...753,859 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Esotropia ClinVar PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 PMID:19015152 PMID:19034401 PMID:19694776 PMID:20131292 PMID:21177854 PMID:22149989 PMID:24033266 PMID:25243380 PMID:25274781 PMID:25343331 PMID:25604658 PMID:25741868 PMID:26182405 PMID:26467025 PMID:26846091 PMID:26903602 PMID:27009121 PMID:28492532 PMID:28762473 PMID:30311386 NCBI chr11:16,825,799...16,911,959
Ensembl chr11:16,829,801...16,911,879 		JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:30311386 NCBI chr 6:47,339,759...47,458,457 JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Convergent strabismus ClinVar PMID:25741868 NCBI chr 7:7,221,654...7,244,626
Ensembl chr 7:7,221,656...7,244,477 		JBrowse link
G TTC8 tetratricopeptide repeat domain 8 ISO ClinVar Annotator: match by term: Esodeviation ClinVar PMID:16308660 PMID:21044901 PMID:24033266 PMID:25741868 PMID:28492532 PMID:30311386 NCBI chr 7:110,731,729...110,783,999
Ensembl chr 7:110,731,668...110,784,855 		JBrowse link
G TYR tyrosinase ISO ClinVar Annotator: match by term: Esodeviation ClinVar PMID:1899321 PMID:17952075 PMID:17999355 PMID:25741868 PMID:30311386 NCBI chr 9:22,517,047...22,604,290
Ensembl chr 9:22,517,047...22,604,290 		JBrowse link
MENTAL RETARDATION, 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 OMIM NCBI chr 1:73,549,778...73,722,689
Ensembl chr 1:73,549,307...73,722,403 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12682
    sensory system disease 4851
      eye disease 2558
        ocular motility disease 168
          strabismus 54
            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 + 10
            exotropia + 0
            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 12682
    disease of anatomical entity 12225
      nervous system disease 9993
        peripheral nervous system disease 2383
          neuropathy 2228
            cranial nerve disease 454
              ocular motility disease 168
                strabismus 54
                  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 + 10
                  exotropia + 0
                  hypertropia 0
                  hypotropia 0
                  intermittent squint 0
                  internuclear ophthalmoplegia 0
                  mechanical strabismus + 0
                  monofixation syndrome 0
                  paralytic squint + 0
paths to the root