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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 7 37,550,045 37,627,428 RGD:9068941
G BMP4 bone morphogenetic protein 4 JBrowse link 8 29,997,563 30,254,307 RGD:9068941
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 20 48,747,087 49,036,627 RGD:9068941
G FOXP1 forkhead box P1 JBrowse link 20 20,438,631 21,020,516 RGD:9068941
G GNB1 G protein subunit beta 1 JBrowse link 5 56,777,854 56,879,619 RGD:9068941
G KIF7 kinesin family member 7 JBrowse link 3 52,630,059 52,649,164 RGD:9068941
G MED13L mediator complex subunit 13L JBrowse link 26 12,768,762 13,031,251 RGD:9068941
G NF1 neurofibromin 1 JBrowse link 9 41,467,460 41,679,388 RGD:9068941
G PCDH19 protocadherin 19 JBrowse link X 74,179,609 74,319,138 RGD:9068941
G SOX5 SRY-box transcription factor 5 JBrowse link 27 22,857,661 23,855,709 RGD:9068941
G STXBP1 syntaxin binding protein 1 JBrowse link 9 55,690,939 55,768,008 RGD:9068941
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COLEC11 collectin subfamily member 11 JBrowse link 17 2,147,679 2,180,096 RGD:7240710
RGD:9068941
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 34 19,689,426 19,750,669 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 6 9,475,132 9,488,611 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 23 35,536,520 35,604,708 RGD:9068941
G FOXL2 forkhead box L2 JBrowse link 23 35,145,856 35,147,185 RGD:7240710
RGD:9068941
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 23 35,508,478 35,536,081 RGD:9068941
Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 36 18,785,470 18,990,409 RGD:9068941
G MAFB MAF bZIP transcription factor B JBrowse link 24 28,769,904 28,772,519 RGD:9068941
G SALL4 spalt like transcription factor 4 JBrowse link 24 37,941,498 37,959,713 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 24 28,769,904 28,772,519 RGD:9068941
Duane Retraction Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 36 18,785,470 18,990,409 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 24 28,769,904 28,772,519 RGD:7240710
RGD:9068941
esotropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKRD11 ankyrin repeat domain 11 JBrowse link 5 64,047,188 64,229,582 RGD:9068941
G TFAP2A transcription factor AP-2 alpha JBrowse link 35 10,157,043 10,180,484 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 12 64,653,814 64,794,144 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12219
    sensory system disease 4446
      eye disease 2235
        ocular motility disease 112
          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 12219
    disease of anatomical entity 11875
      nervous system disease 9576
        peripheral nervous system disease 2111
          neuropathy 1953
            cranial nerve disease 359
              ocular motility disease 112
                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.