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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 chr 1:179,744,904...179,804,015
Ensembl chr 1:179,744,894...179,803,680 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO RGD PMID:14710472 RGD:8699500 NCBI chr14:46,383,525...46,390,669
Ensembl chr14:46,383,520...46,390,669 		JBrowse link
G Foxp1 forkhead box P1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 NCBI chr 6:98,925,342...99,522,746
Ensembl chr 6:98,925,338...99,522,721 		JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), 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 4:155,491,300...155,559,269
Ensembl chr 4:155,491,361...155,559,269 		JBrowse link
G Lsm1 LSM1 homolog, mRNA degradation associated ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 PMID:31010896 NCBI chr 8:25,785,318...25,803,975
Ensembl chr 8:25,785,288...25,803,975 		JBrowse link
G Med13l mediator complex subunit 13-like ISO ClinVar Annotator: match by term: Squint ClinVar PMID:25741868 NCBI chr 5:118,560,330...118,765,438
Ensembl chr 5:118,560,679...118,765,438 		JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Squint ClinVar PMID:21520333 PMID:25741868 PMID:28492532 NCBI chr11:79,339,590...79,581,609
Ensembl chr11:79,339,693...79,581,612 		JBrowse link
G Olfm3 olfactomedin 3 ISO ClinVar Annotator: match by term: Susceptibility to strabismus ClinVar NCBI chr 3:114,904,078...115,125,764
Ensembl chr 3:114,904,078...115,125,722 		JBrowse link
G Sil1 endoplasmic reticulum chaperone SIL1 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Squint ClinVar PMID:32581362 NCBI chr18:35,266,396...35,499,390
Ensembl chr18:35,266,396...35,499,780 		JBrowse link
G Sox5 SRY (sex determining region Y)-box 5 ISO ClinVar Annotator: match by term: Strabismus ClinVar PMID:25741868 NCBI chr 6:143,828,425...144,782,287
Ensembl chr 6:143,828,425...144,781,977 		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 2:32,787,607...32,847,237
Ensembl chr 2:32,787,602...32,847,245 		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 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 chr12:28,594,172...28,623,458
Ensembl chr12:28,594,173...28,623,377 		JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21258343 NCBI chr16:23,451,785...23,521,240
Ensembl chr16:23,449,417...23,520,815 		JBrowse link
G Slc26a2 solute carrier family 26 (sulfate transporter), 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 chr18:61,196,854...61,211,596
Ensembl chr18:61,192,919...61,211,612 		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 ClinVar Annotator: match by term: Alazami-Yuan syndrome ClinVar
OMIM		 PMID:11295558 PMID:25558065 PMID:25574841 PMID:25741868 NCBI chr 5:138,178,617...138,187,451
Ensembl chr 5:138,178,617...138,187,451 		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 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 9:98,955,607...98,958,126
Ensembl chr 9:98,955,288...98,958,543 		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 chr 9:98,955,607...98,958,126
Ensembl chr 9:98,955,288...98,958,543 		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 coatomer protein complex, subunit beta 2 (beta prime) ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 9:98,563,731...98,588,375
Ensembl chr 9:98,563,721...98,588,382 		JBrowse link
G E330023G01Rik RIKEN cDNA E330023G01 gene IEA OMIM:110100 MouseDO NCBI chr 9:98,748,599...98,820,087
Ensembl chr 9:98,748,599...98,820,087 		JBrowse link
G Foxl2 forkhead box L2 ISO
IEA		 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
OMIM:110100
ClinVar Annotator: match by OMIM:110100		 ClinVar
CTD
MouseDO
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 9:98,955,607...98,958,126
Ensembl chr 9:98,955,288...98,958,543 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Blepharophimosis, ptosis, and epicanthus inversus ClinVar NCBI chr 9:98,588,730...98,601,679
Ensembl chr 9:98,588,730...98,601,660 		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
IEA		 ClinVar Annotator: match by term: Duane's syndrome
OMIM:126800 | OMIM:604356
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD		 NCBI chr 2:73,610,660...73,775,367
Ensembl chr 2:73,610,660...73,775,346 		JBrowse link
G Mafb v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian) IEA
ISO		 OMIM:126800 | OMIM:604356
CTD Direct Evidence: marker/mechanism		 MouseDO
CTD		 NCBI chr 2:160,363,677...160,367,065
Ensembl chr 2:160,363,703...160,367,065 		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 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 2:168,748,332...168,767,201
Ensembl chr 2:168,748,332...168,767,943 		JBrowse link
Duane Retraction Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian) ISO ClinVar Annotator: match by term: Duane syndrome type 1 ClinVar PMID:27181683 NCBI chr 2:160,363,677...160,367,065
Ensembl chr 2:160,363,703...160,367,065 		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: 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 2:73,610,660...73,775,367
Ensembl chr 2:73,610,660...73,775,346 		JBrowse link
Duane Retraction Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mafb v-maf musculoaponeurotic fibrosarcoma oncogene family, protein B (avian) ISO ClinVar Annotator: match by term: Duane syndrome type 3 ClinVar
OMIM		 PMID:27181683 NCBI chr 2:160,363,677...160,367,065
Ensembl chr 2:160,363,703...160,367,065 		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: Convergent strabismus ClinVar PMID:25741868 NCBI chr13:40,713,802...40,738,238
Ensembl chr13:40,715,302...40,738,376 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Esodeviation ClinVar PMID:1899321 PMID:17952075 PMID:17999355 PMID:25741868 NCBI chr 7:87,424,771...87,493,512
Ensembl chr 7:87,424,771...87,493,512 		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 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 chr10:43,002,488...43,183,139
Ensembl chr10:43,002,500...43,174,530 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13465
    sensory system disease 4999
      eye disease 2575
        ocular motility disease 143
          strabismus 25
            3MC syndrome 2 3
            Alazami-Yuan Syndrome 1
            Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
            Duane retraction syndrome + 7
            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 + 2
            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 13465
    disease of anatomical entity 12944
      nervous system disease 10487
        peripheral nervous system disease 2429
          neuropathy 2259
            cranial nerve disease 423
              ocular motility disease 143
                strabismus 25
                  3MC syndrome 2 3
                  Alazami-Yuan Syndrome 1
                  Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
                  Duane retraction syndrome + 7
                  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 + 2
                  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