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	strabismus

Disease ID	713
Disease	strabismus
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)
Synonym	cross-eyed deviations eye disorder of binocular eye movements disorder of binocular eye movements (disorder) eye deviation heterophoria heterophoria nos heterophoria nos (disorder) heterophoria, nos heterophoria, unspecified heterotropia heterotropia (disorder) heterotropia nos heterotropia, nos heterotropia, unspecified ocular dissociation ocular dissociation (finding) phoria phorias squint squint eyes squint, nos strabismus (disorder) strabismus [disease/finding] strabismus nos strabismus nos (disorder) strabismus, nos unspecified heterophoria unspecified heterophoria (disorder) unspecified heterotropia unspecified heterotropia (disorder)
DOID	DOID:540
ICD10	ICD10CM:H50.50;ICD10CM:H50.40
UMLS	C0038379
MeSH	D013285
SNOMED-CT	SNOMEDCT_US_2016_09_01:128602000;SNOMEDCT_US_2016_09_01:22066006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:52) C0002418 \| amblyopia \| 16 C0012569 \| diplopia \| 11 C0015310 \| exotropia \| 9 C0034951 \| refractive error \| 6 C0028738 \| nystagmus \| 5 C0005745 \| ptosis \| 4 C0003081 \| anisometropia \| 3 C0034951 \| refractive errors \| 3 C0339143 \| thyroid eye disease \| 3 C0339143 \| thyroid ophthalmopathy \| 3 C0004106 \| astigmatism \| 2 C0080178 \| spina bifida \| 2 C0027092 \| myopia \| 2 C0029089 \| ophthalmoplegia \| 1 C0022578 \| keratoconus \| 1 C0009782 \| connective tissue disorders \| 1 C0221060 \| moebius syndrome \| 1 C0010278 \| craniosynostosis \| 1 C0221355 \| macrocephaly \| 1 C0023470 \| myeloid leukemia \| 1 C0027127 \| myotonia congenita \| 1 C0796004 \| kabuki syndrome \| 1 C0085292 \| stiff-person syndrome \| 1 C0162674 \| chronic progressive external ophthalmoplegia \| 1 C0015397 \| eye disease \| 1 C0085261 \| proteus syndrome \| 1 C0456909 \| vision loss \| 1 C0004134 \| ataxia \| 1 C0028866 \| third nerve palsy \| 1 C0023467 \| acute myeloid leukemia \| 1 C0007789 \| cerebral palsy \| 1 C0086543 \| cataracts \| 1 C0009782 \| connective tissue disorder \| 1 C0339143 \| graves' ophthalmopathy \| 1 C0730290 \| cone dystrophy \| 1 C0271355 \| lateral rectus palsy \| 1 C0023138 \| laurence-moon-biedl syndrome \| 1 C0151311 \| cranial nerve palsy \| 1 C0036454 \| visual field defects \| 1 C0035335 \| retinoblastoma \| 1 C0085113 \| neurofibromatosis \| 1 C0086543 \| cataract \| 1 C0339143 \| thyroid associated ophthalmopathy \| 1 C0271355 \| sixth nerve palsy \| 1 C0010273 \| crouzon syndrome \| 1 C0155339 \| brown syndrome \| 1 C0036454 \| visual field defect \| 1 C0014877 \| esotropia \| 1 C0162674 \| progressive external ophthalmoplegia \| 1 C0078918 \| oculocutaneous albinism \| 1 C0042790 \| vision disorders \| 1 C0151740 \| intracranial hypertension \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 127343 \| DMBX1 \| CLINVAR 23111 \| SPG20 \| CLINVAR 1123 \| CHN1 \| GHR
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:117) 26027 \| ACOT11 \| 4.422 \| DISEASES 71 \| ACTG1 \| 1.332 \| DISEASES 161823 \| ADAL \| 2.969 \| DISEASES 137872 \| ADHFE1 \| 2.481 \| DISEASES 401138 \| AMTN \| 2.755 \| DISEASES 22881 \| ANKRD6 \| 2.68 \| DISEASES 361 \| AQP4 \| 1.286 \| DISEASES 408 \| ARRB1 \| 1.013 \| DISEASES 55589 \| BMP2K \| 2.259 \| DISEASES 8315 \| BRAP \| 2.327 \| DISEASES 221927 \| BRAT1 \| 2.399 \| DISEASES 685 \| BTC \| 1.042 \| DISEASES 844 \| CASQ1 \| 1.863 \| DISEASES 4345 \| CD200 \| 3.183 \| DISEASES 55636 \| CHD7 \| 2.341 \| DISEASES 1123 \| CHN1 \| 7.398 \| DISEASES 1180 \| CLCN1 \| 1.456 \| DISEASES 1186 \| CLCN7 \| 1.336 \| DISEASES 157807 \| CLVS1 \| 3.634 \| DISEASES 6900 \| CNTN2 \| 1.131 \| DISEASES 1301 \| COL11A1 \| 1.123 \| DISEASES 84570 \| COL25A1 \| 2.603 \| DISEASES 1297 \| COL9A1 \| 1.811 \| DISEASES 1314 \| COPA \| 1.867 \| DISEASES 23418 \| CRB1 \| 1.05 \| DISEASES 9244 \| CRLF1 \| 1.991 \| DISEASES 1499 \| CTNNB1 \| 1.802 \| DISEASES 348180 \| CTU2 \| 2.814 \| DISEASES 8454 \| CUL1 \| 1.268 \| DISEASES 1538 \| CYLC1 \| 2.637 \| DISEASES 1739 \| DLG1 \| 1.655 \| DISEASES 1760 \| DMPK \| 1.111 \| DISEASES 1798 \| DPAGT1 \| 1.931 \| DISEASES 1805 \| DPT \| 3.198 \| DISEASES 29940 \| DSE \| 2.149 \| DISEASES 56940 \| DUSP22 \| 2.075 \| DISEASES 1855 \| DVL1 \| 1.238 \| DISEASES 10682 \| EBP \| 2.731 \| DISEASES 1907 \| EDN2 \| 2.04 \| DISEASES 56478 \| EIF4ENIF1 \| 2.475 \| DISEASES 10117 \| ENAM \| 1.39 \| DISEASES 132884 \| EVC2 \| 1.374 \| DISEASES 2193 \| FARSA \| 1.122 \| DISEASES 10516 \| FBLN5 \| 1.24 \| DISEASES 8822 \| FGF17 \| 2.033 \| DISEASES 2263 \| FGFR2 \| 1.531 \| DISEASES 2303 \| FOXC2 \| 2.018 \| DISEASES 668 \| FOXL2 \| 1.962 \| DISEASES 10023 \| FRAT1 \| 2.171 \| DISEASES 23401 \| FRAT2 \| 2.55 \| DISEASES 5348 \| FXYD1 \| 1.151 \| DISEASES 2533 \| FYB \| 1.61 \| DISEASES 8322 \| FZD4 \| 2.144 \| DISEASES 8323 \| FZD6 \| 2.835 \| DISEASES 8326 \| FZD9 \| 2.68 \| DISEASES 2550 \| GABBR1 \| 1.632 \| DISEASES 9573 \| GDF3 \| 1.743 \| DISEASES 200504 \| GKN2 \| 1.117 \| DISEASES 2739 \| GLO1 \| 1.082 \| DISEASES 3055 \| HCK \| 1.745 \| DISEASES 3198 \| HOXA1 \| 1.884 \| DISEASES 3211 \| HOXB1 \| 2.047 \| DISEASES 3347 \| HTN3 \| 2.181 \| DISEASES 10581 \| IFITM2 \| 1.335 \| DISEASES 23210 \| JMJD6 \| 2.137 \| DISEASES 102723508 \| KANTR \| 3.865 \| DISEASES 169522 \| KCNV2 \| 2.103 \| DISEASES 55605 \| KIF21A \| 5.517 \| DISEASES 51520 \| LARS \| 1.471 \| DISEASES 643418 \| LIPN \| 1.164 \| DISEASES 89782 \| LMLN \| 4.152 \| DISEASES 6885 \| MAP3K7 \| 1.977 \| DISEASES 57506 \| MAVS \| 1.115 \| DISEASES 55777 \| MBD5 \| 1.423 \| DISEASES 4534 \| MTM1 \| 1.889 \| DISEASES 4540 \| MT-ND5 \| 1.102 \| DISEASES 100463289 \| MTRNR2L5 \| 2.502 \| DISEASES 4763 \| NF1 \| 1.679 \| DISEASES 51701 \| NLK \| 2.027 \| DISEASES 126014 \| OSCAR \| 1.44 \| DISEASES 56288 \| PARD3 \| 1.658 \| DISEASES 5080 \| PAX6 \| 1.759 \| DISEASES 9124 \| PDLIM1 \| 2.063 \| DISEASES 8682 \| PEA15 \| 1.55 \| DISEASES 5824 \| PEX19 \| 1.447 \| DISEASES 11145 \| PLA2G16 \| 6.356 \| DISEASES 728378 \| POTEF \| 1.22 \| DISEASES 5493 \| PPL \| 1.992 \| DISEASES 144165 \| PRICKLE1 \| 2.115 \| DISEASES 5727 \| PTCH1 \| 1.013 \| DISEASES 5799 \| PTPRN2 \| 1.049 \| DISEASES 51651 \| PTRH2 \| 2.294 \| DISEASES 84932 \| RAB2B \| 1.99 \| DISEASES 80196 \| RNF34 \| 1.826 \| DISEASES 64221 \| ROBO3 \| 4.711 \| DISEASES 6295 \| SAG \| 1.461 \| DISEASES 23513 \| SCRIB \| 2.229 \| DISEASES 9467 \| SH3BP5 \| 1.238 \| DISEASES 85358 \| SHANK3 \| 1.288 \| DISEASES 6539 \| SLC6A12 \| 1.335 \| DISEASES 6540 \| SLC6A13 \| 1.035 \| DISEASES 54716 \| SLC6A20 \| 2.333 \| DISEASES 6080 \| SNORA73A \| 2.241 \| DISEASES 6834 \| SURF1 \| 2.848 \| DISEASES 6905 \| TBCE \| 1.327 \| DISEASES 50945 \| TBX22 \| 1.608 \| DISEASES 7086 \| TKT \| 1.005 \| DISEASES 10381 \| TUBB3 \| 3.685 \| DISEASES 286753 \| TUSC5 \| 2.033 \| DISEASES 7319 \| UBE2A \| 2.403 \| DISEASES 285175 \| UNC80 \| 2.789 \| DISEASES 57216 \| VANGL2 \| 5.185 \| DISEASES 157680 \| VPS13B \| 1.137 \| DISEASES 11169 \| WDHD1 \| 2.77 \| DISEASES 7481 \| WNT11 \| 3.089 \| DISEASES 8565 \| YARS \| 1.222 \| DISEASES 7546 \| ZIC2 \| 1.562 \| DISEASES
Locus	(Waiting for update.)

Disease ID	713
Disease	strabismus
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:74) HP:0000646 \| Wandering eyes \| 18 HP:0000651 \| Diplopia \| 12 HP:0000577 \| Exotropia \| 10 HP:0000639 \| Nystagmus \| 6 HP:0000508 \| Drooping upper eyelid \| 5 HP:0011003 \| High myopia \| 4 HP:0001297 \| Cerebral vascular events \| 3 HP:0001263 \| Developmental retardation \| 3 HP:0000565 \| Inward turning of one or both eyes \| 3 HP:0000619 \| Convergence insufficiency \| 3 HP:0012531 \| Pain \| 3 HP:0012803 \| Anisometropia \| 3 HP:0006824 \| Cranial nerve palsy \| 2 HP:0004439 \| Crouzon syndrome \| 2 HP:0000545 \| Near sightedness \| 2 HP:0002414 \| Spina bifida \| 2 HP:0002475 \| Myelomeningocele \| 2 HP:0007970 \| Congenital ptosis \| 2 HP:0000572 \| Visual loss \| 2 HP:0000483 \| Astigmatism \| 2 HP:0000622 \| Blurred vision \| 1 HP:0000924 \| Abnormality of the skeletal system \| 1 HP:0000590 \| Progressive external ophthalmoplegia \| 1 HP:0009919 \| Retinoblastoma \| 1 HP:0002804 \| Arthrogryposis multiplex congenita \| 1 HP:0001123 \| Partial loss of field of vision \| 1 HP:0010828 \| Hemifacial spasm \| 1 HP:0007663 \| Central visual loss \| 1 HP:0001269 \| Hemiparesis \| 1 HP:0007936 \| Restrictive external ophthalmoplegia \| 1 HP:0002516 \| Intracranial pressure elevation \| 1 HP:0000505 \| Poor vision \| 1 HP:0000589 \| Ocular coloboma \| 1 HP:0001083 \| Dislocated lenses \| 1 HP:0003418 \| Back pain \| 1 HP:0001270 \| Motor retardation \| 1 HP:0001251 \| Ataxia \| 1 HP:0000540 \| Hypermetropia \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0000666 \| Horizontal nystagmus \| 1 HP:0004440 \| Craniosynostosis of coronal suture \| 1 HP:0000563 \| Conical cornea \| 1 HP:0000518 \| Cataract \| 1 HP:0000463 \| Nostrils anteverted \| 1 HP:0007894 \| Retinal depigmentation \| 1 HP:0000256 \| Macrocrania \| 1 HP:0000234 \| Head abnormality \| 1 HP:0000486 \| Squint eyes \| 1 HP:0000510 \| Retinitis pigmentosa \| 1 HP:0011326 \| Deformational frontal plagiocephaly \| 1 HP:0002486 \| Myotonia \| 1 HP:0001252 \| Hypotonia \| 1 HP:0001249 \| Mental retardation \| 1 HP:0001357 \| Flattening of cranial vault \| 1 HP:0002311 \| Incoordination \| 1 HP:0011220 \| Prominent forehead \| 1 HP:0012324 \| Myeloid leukemia \| 1 HP:0003419 \| Low back pain \| 1 HP:0000478 \| Abnormal eye \| 1 HP:0004808 \| Acute myelogenous leukemia \| 1 HP:0000496 \| Ocular movement abnormalities \| 1 HP:0002078 \| Truncal ataxia \| 1 HP:0001363 \| Early fusion of cranial sutures \| 1 HP:0000271 \| Abnormal face \| 1 HP:0009890 \| High anterior hairline \| 1 HP:0001491 \| Congenital fibrosis of the extraocular muscles \| 1 HP:0011349 \| Sixth nerve palsy \| 1 HP:0000980 \| Pallor \| 1 HP:0000602 \| Ophthalmoplegia \| 1 HP:0000612 \| Iris coloboma \| 1 HP:0000544 \| CPEO \| 1 HP:0100021 \| Cerebral palsy \| 1 HP:0001010 \| Hypopigmentation of the skin \| 1 HP:0000716 \| Depression \| 1

Disease ID	713
Disease	strabismus
Manually Symptom	UMLS \| Name(Total Manually Symptoms:25) C2712332 \| vomiting C2364108 \| stigma C1963184 \| nystagmus C1856184 \| hemihyperplasia C1270923 \| functional amblyopia C0948289 \| dellen C0595921 \| intraocular pressure C0520905 \| postoperative vomiting C0339611 \| monofixation syndrome C0302129 \| rod monochromatism C0271190 \| monocular diplopia C0262471 \| ent problem C0155010 \| anomalous retinal correspondence C0042790 \| vision disorder C0037763 \| spasm C0036454 \| scotoma C0035321 \| retinal perforation C0034951 \| refractive errors C0030201 \| postoperative pain C0027092 \| myopia C0012569 \| double vision C0012569 \| diplopia C0004106 \| astigmatism C0002636 \| amniotic band syndrome C0002418 \| amblyopia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:11) C0002418 \| amblyopia \| 18 C0012569 \| diplopia \| 11 C0028738 \| nystagmus \| 5 C0034951 \| refractive errors \| 3 C0027092 \| myopia \| 2 C0004106 \| astigmatism \| 2 C0155010 \| anomalous retinal correspondence \| 1 C0037763 \| spasm \| 1 C0012569 \| double vision \| 1 C0042790 \| vision disorder \| 1 C0030201 \| postoperative pain \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs730882198	NA	23111	SPG20	umls:C0038379	CLINVAR	NA	0.12	NA	SPG20	13	36314259	-	T
rs730882203	NA	127343	DMBX1	umls:C0038379	CLINVAR	NA	0.12	NA	DMBX1	1	46510953	C	T
rs77543610	17251833	2263	FGFR2	umls:C0038379	BeFree	There was a trend of more frequent amblyopia and strabismus in FGFR2 Ser252Trp mutation and more frequent optic disc pallor in the FGFR2 Pro253Arg mutation.	0.000542884	2007	FGFR2	10	121520160	G	C
rs79184941	17251833	2263	FGFR2	umls:C0038379	BeFree	There was a trend of more frequent amblyopia and strabismus in FGFR2 Ser252Trp mutation and more frequent optic disc pallor in the FGFR2 Pro253Arg mutation.	0.000542884	2007	FGFR2	10	121520163	G	C,A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	713
Disease	strabismus
Case	(Waiting for update.)

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