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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 1 246,839,098 246,931,948 RGD:8554872
G BMP4 bone morphogenetic protein 4 JBrowse link 14 53,949,736 53,956,891 RGD:8699500
G CACNA1A calcium voltage-gated channel subunit alpha1 A JBrowse link 19 13,206,442 13,506,479 RGD:8554872
G FOXP1 forkhead box P1 JBrowse link 3 70,952,817 71,583,989 RGD:8554872
G GNB1 G protein subunit beta 1 JBrowse link 1 1,785,285 1,891,117 RGD:8554872
G KIF7 kinesin family member 7 JBrowse link 15 89,627,977 89,663,086 RGD:8554872
G MED13L mediator complex subunit 13L JBrowse link 12 115,958,576 116,277,693 RGD:8554872
G NF1 neurofibromin 1 JBrowse link 17 31,094,927 31,377,677 RGD:8554872
G PCDH19 protocadherin 19 JBrowse link X 100,291,644 100,410,273 RGD:8554872
G SOX5 SRY-box transcription factor 5 JBrowse link 12 23,529,499 24,562,701 RGD:8554872
G STXBP1 syntaxin binding protein 1 JBrowse link 9 127,611,912 127,696,029 RGD:8554872
3MC syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COLEC11 collectin subfamily member 11 JBrowse link 2 3,594,832 3,644,644 RGD:8554872
RGD:11554173
RGD:7240710
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 3 187,216,085 187,293,529 RGD:11554173
Alazami-Yuan Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TAF6 TATA-box binding protein associated factor 6 JBrowse link 7 100,107,070 100,127,208 RGD:8554872
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 3 139,355,595 139,389,680 RGD:8554872
G FOXL2 forkhead box L2 JBrowse link 3 138,944,224 138,947,137 RGD:1598958
RGD:8554872
RGD:11554173
RGD:7240710
G MRPS22 mitochondrial ribosomal protein S22 JBrowse link 3 139,343,994 139,357,140 RGD:8554872
Duane retraction syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 2 174,798,809 175,005,381 RGD:8554872
RGD:11554173
G MAFB MAF bZIP transcription factor B JBrowse link 20 40,685,848 40,689,236 RGD:11554173
G SALL4 spalt like transcription factor 4 JBrowse link 20 51,782,331 51,802,521 RGD:11556210
RGD:11554173
RGD:11532205
RGD:11556232
RGD:11556231
RGD:11556215
RGD:11556211
Duane Retraction Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAFB MAF bZIP transcription factor B JBrowse link 20 40,685,848 40,689,236 RGD:8554872
Duane Retraction Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHN1 chimerin 1 JBrowse link 2 174,798,809 175,005,381 RGD:8554872
RGD:7240710
Duane Retraction Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAFB MAF bZIP transcription factor B JBrowse link 20 40,685,848 40,689,236 RGD:8554872
RGD:7240710
esotropia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKRD11 ankyrin repeat domain 11 JBrowse link 16 89,267,619 89,490,561 RGD:8554872
G TFAP2A transcription factor AP-2 alpha JBrowse link 6 10,396,677 10,420,060 RGD:8554872
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 6 107,490,104 107,661,306 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16658
    sensory system disease 5000
      eye disease 2505
        ocular motility disease 129
          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 16658
    disease of anatomical entity 15639
      nervous system disease 11921
        peripheral nervous system disease 2284
          neuropathy 2114
            cranial nerve disease 392
              ocular motility disease 129
                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.