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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.


show annotations for term's descendants       view all columns           Sort by:
 
strabismus term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AHCTF1 AT-hook containing transcription factor 1 JBrowse link 1 227,934,111 228,026,820 RGD:9068941
G BMP4 bone morphogenetic protein 4 JBrowse link 14 52,821,872 52,828,781 RGD:9068941
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 19 13,506,232 13,804,815 RGD:9068941
G FOXP1 forkhead box P1 JBrowse link 3 72,255,364 72,878,625 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 1 1,647,764 1,753,106 RGD:9068941
G KIF7 kinesin family member 7 JBrowse link 15 87,528,828 87,555,931 RGD:9068941
G MED13L mediator complex subunit 13L JBrowse link 12 116,906,557 117,187,192 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 17 26,160,857 26,439,295 RGD:9068941
G PCDH19 protocadherin 19 JBrowse link X 99,643,595 99,759,631 RGD:9068941
G SOX5 SRY-box transcription factor 5 JBrowse link 12 64,973,019 65,391,500 RGD:9068941
G STXBP1 syntaxin binding protein 1 JBrowse link 9 127,434,080 127,483,971 RGD:9068941
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COLEC11 collectin subfamily member 11 JBrowse link 2A 3,529,358 3,578,280 RGD:7240710
RGD:9068941
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 3 192,707,784 192,782,196 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 7 105,575,861 105,588,177 RGD:9068941
RGD:7240710
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 3 143,994,312 144,026,277 RGD:9068941
G FOXL2 forkhead box L2 JBrowse link 3 143,578,194 143,580,291 RGD:7240710
RGD:9068941
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 3 143,638,771 143,993,852 RGD:9068941
Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 2B 179,527,971 179,694,524 RGD:9068941
G MAFB MAF bZIP transcription factor B JBrowse link 20 38,125,705 38,128,724 RGD:9068941
G SALL4 spalt like transcription factor 4 JBrowse link 20 49,252,320 49,272,973 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 20 38,125,705 38,128,724 RGD:9068941
Duane Retraction Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 2B 179,527,971 179,694,524 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 20 38,125,705 38,128,724 RGD:7240710
RGD:9068941
esotropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKRD11 ankyrin repeat domain 11 JBrowse link 16 89,632,991 89,795,110 RGD:9068941
G TFAP2A transcription factor AP-2 alpha JBrowse link 6 10,519,625 10,541,898 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 6 109,168,069 109,337,549 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12060
    sensory system disease 4380
      eye disease 2194
        ocular motility disease 106
          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 12060
    disease of anatomical entity 11720
      nervous system disease 9465
        peripheral nervous system disease 2073
          neuropathy 1915
            cranial nerve disease 350
              ocular motility disease 106
                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.