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ONTOLOGY REPORT - ANNOTATIONS


Term:strabismus
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Accession:DOID:540 term browser browse the term
Definition:Misalignment of the visual axes of the eyes. In comitant strabismus the degree of ocular misalignment does not vary with the direction of gaze. In noncomitant strabismus the degree of misalignment varies depending on direction of gaze or which eye is fixating on the target. (Miller, Walsh & Hoyt's Clinical Neuro-Ophthalmology, 4th ed, p641)
Synonyms:exact_synonym: Comitant Strabismus;   Convergent Comitant Strabismus;   Noncomitant Strabismus;   Phoria;   Phorias;   Squint
 related_synonym: STBMS1;   strabismus, susceptibility to;   strabismus, susceptibility to, 1
 primary_id: MESH:D013285
 alt_id: OMIM:185100
 xref: ICD10CM:H50.8;   ICD10CM:H50.89;   ICD9CM:378.7
For additional species annotation, visit the Alliance of Genome Resources.


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strabismus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ahctf1 AT-hook containing transcription factor 1 JBrowse link NW_004955406 9,687,237 9,754,426 RGD:9068941
G Bmp4 bone morphogenetic protein 4 JBrowse link NW_004955409 9,432,835 9,439,680 RGD:9068941
G Cacna1a calcium voltage-gated channel subunit alpha1 A JBrowse link NW_004955415 32,182,536 32,457,511 RGD:9068941
G Foxp1 forkhead box P1 JBrowse link NW_004955421 16,595,445 17,075,923 RGD:9068941
G Gnb1 G protein subunit beta 1 JBrowse link NW_004955486 9,165,850 9,192,306 RGD:9068941
G Kif7 kinesin family member 7 JBrowse link NW_004955416 15,555,959 15,570,925 RGD:9068941
G Med13l mediator complex subunit 13L JBrowse link NW_004955455 14,679,416 14,960,226 RGD:9068941
G Nf1 neurofibromin 1 JBrowse link NW_004955481 6,145,855 6,404,179 RGD:9068941
G Pcdh19 protocadherin 19 JBrowse link NW_004955503 6,428,894 6,567,253 RGD:9068941
G Sox5 SRY-box transcription factor 5 JBrowse link NW_004955413 18,831,931 19,676,371 RGD:9068941
G Stxbp1 syntaxin binding protein 1 JBrowse link NW_004955419 963,829 1,000,759 RGD:9068941
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Colec11 collectin subfamily member 11 JBrowse link NW_004955487 3,778,901 3,789,852 RGD:7240710
RGD:9068941
G Masp1 mannan binding lectin serine peptidase 1 JBrowse link NW_004955420 20,540,266 20,605,830 RGD:9068941
Alazami-Yuan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Taf6 TATA-box binding protein associated factor 6 JBrowse link NW_004955573 752,646 759,292 RGD:7240710
RGD:9068941
blepharophimosis, ptosis, and epicanthus inversus syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Copb2 COPI coat complex subunit beta 2 JBrowse link NW_004955508 6,201,989 6,231,840 RGD:9068941
G Foxl2 forkhead box L2 JBrowse link NW_004955501 83,965 84,476 RGD:7240710
RGD:9068941
G Mrps22 mitochondrial ribosomal protein S22 JBrowse link NW_004955508 6,232,514 6,246,593 RGD:9068941
Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link NW_004955449 574,407 635,566 RGD:9068941
G Mafb MAF bZIP transcription factor B JBrowse link NW_004955445 16,219,675 16,222,913 RGD:9068941
G Sall4 spalt like transcription factor 4 JBrowse link NW_004955445 6,824,797 6,841,141 RGD:9068941
Duane Retraction Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mafb MAF bZIP transcription factor B JBrowse link NW_004955445 16,219,675 16,222,913 RGD:9068941
Duane Retraction Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chn1 chimerin 1 JBrowse link NW_004955449 574,407 635,566 RGD:7240710
RGD:9068941
Duane Retraction Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mafb MAF bZIP transcription factor B JBrowse link NW_004955445 16,219,675 16,222,913 RGD:7240710
RGD:9068941
esotropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd11 ankyrin repeat domain 11 JBrowse link NW_004955541 2,921,230 3,033,612 RGD:9068941
G Tfap2a transcription factor AP-2 alpha JBrowse link NW_004955465 3,877,896 3,900,259 RGD:9068941
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sobp sine oculis binding protein homolog JBrowse link NW_004955411 32,745,029 32,898,570 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11418
    sensory system disease 4216
      eye disease 2126
        ocular motility disease 104
          strabismus 23
            3MC syndrome 2 2
            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 + 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 11418
    disease of anatomical entity 11091
      nervous system disease 8959
        peripheral nervous system disease 2022
          neuropathy 1869
            cranial nerve disease 338
              ocular motility disease 104
                strabismus 23
                  3MC syndrome 2 2
                  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 + 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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.