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encyclopedia of Rare Disease Annotation for Precision Medicine

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	esotropia

Disease ID	1300
Disease	esotropia
Definition	A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a "cross-eye" appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze.
Synonym	convergent concomitant strabismus convergent squint convergent strabismus cross eye cross eyes cross-eye cross-eyes crossed eye crossed eyes crossing eye crossing eyes crossings eyes disorders esotropia esodeviation esodeviations esotropia (disorder) esotropia [disease/finding] esotropia nos esotropia nos (disorder) esotropia, nos esotropia, unspecified esotropias internal strabismus inward turning cross eyed inward turning of one or both eyes strabismus, convergent strabismus, internal unspecified esotropia unspecified esotropia (disorder)
DOID	DOID:9840
ICD10	ICD10CM:H50.00
UMLS	C0014877
MeSH	D004948
SNOMED-CT	SNOMEDCT_US_2016_09_01:16596007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:20) C0012569 \| diplopia \| 8 C0027092 \| myopia \| 6 C0028738 \| nystagmus \| 4 C0034951 \| refractive error \| 3 C0007789 \| cerebral palsy \| 3 C0013261 \| duane syndrome \| 2 C1847523 \| abducens palsy \| 2 C0020490 \| hypermetropia \| 1 C0796004 \| kabuki syndrome \| 1 C0524812 \| intracranial hypotension \| 1 C0271355 \| lateral rectus palsy \| 1 C0038379 \| strabismus \| 1 C0271355 \| abducens nerve palsy \| 1 C0005745 \| ptosis \| 1 C0018552 \| hamartoma \| 1 C0019937 \| horner syndrome \| 1 C0004106 \| astigmatism \| 1 C0235238 \| cycloplegia \| 1 C0152196 \| accommodative spasm \| 1 C0020490 \| hyperopia \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:53) 116 \| ADCYAP1 \| 1.344 \| DISEASES 8315 \| BRAP \| 2.932 \| DISEASES 221927 \| BRAT1 \| 3.005 \| DISEASES 4345 \| CD200 \| 3.788 \| DISEASES 1123 \| CHN1 \| 6.936 \| DISEASES 1180 \| CLCN1 \| 2.061 \| DISEASES 1186 \| CLCN7 \| 1.941 \| DISEASES 1301 \| COL11A1 \| 1.728 \| DISEASES 1280 \| COL2A1 \| 1.08 \| DISEASES 1297 \| COL9A1 \| 2.416 \| DISEASES 23418 \| CRB1 \| 1.655 \| DISEASES 1538 \| CYLC1 \| 3.242 \| DISEASES 1805 \| DPT \| 2.667 \| DISEASES 29940 \| DSE \| 1.797 \| DISEASES 10682 \| EBP \| 3.336 \| DISEASES 1907 \| EDN2 \| 2.599 \| DISEASES 56478 \| EIF4ENIF1 \| 3.08 \| DISEASES 132884 \| EVC2 \| 1.979 \| DISEASES 668 \| FOXL2 \| 2.568 \| DISEASES 8322 \| FZD4 \| 1.792 \| DISEASES 9573 \| GDF3 \| 2.348 \| DISEASES 2737 \| GLI3 \| 1.048 \| DISEASES 2902 \| GRIN1 \| 1.574 \| DISEASES 3055 \| HCK \| 1.37 \| DISEASES 3347 \| HTN3 \| 1.873 \| DISEASES 102723508 \| KANTR \| 4.121 \| DISEASES 169522 \| KCNV2 \| 2.708 \| DISEASES 51520 \| LARS \| 1.119 \| DISEASES 89782 \| LMLN \| 4.337 \| DISEASES 57506 \| MAVS \| 1.721 \| DISEASES 4540 \| MT-ND5 \| 1.707 \| DISEASES 4593 \| MUSK \| 1.172 \| DISEASES 5080 \| PAX6 \| 1.819 \| DISEASES 9124 \| PDLIM1 \| 2.668 \| DISEASES 11145 \| PLA2G16 \| 6.436 \| DISEASES 5493 \| PPL \| 2.597 \| DISEASES 64221 \| ROBO3 \| 3.966 \| DISEASES 6906 \| SERPINA7 \| 1.278 \| DISEASES 9467 \| SH3BP5 \| 1.754 \| DISEASES 85358 \| SHANK3 \| 1.893 \| DISEASES 54716 \| SLC6A20 \| 2.938 \| DISEASES 6834 \| SURF1 \| 3.453 \| DISEASES 6905 \| TBCE \| 1.932 \| DISEASES 7018 \| TF \| 1.23 \| DISEASES 7086 \| TKT \| 1.61 \| DISEASES 10381 \| TUBB3 \| 1.408 \| DISEASES 286753 \| TUSC5 \| 2.638 \| DISEASES 7306 \| TYRP1 \| 1.384 \| DISEASES 7319 \| UBE2A \| 3.009 \| DISEASES 285175 \| UNC80 \| 3.394 \| DISEASES 57216 \| VANGL2 \| 2.082 \| DISEASES 11169 \| WDHD1 \| 2.418 \| DISEASES 8565 \| YARS \| 1.828 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1300
Disease	esotropia
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:28) HP:0000651 \| Diplopia \| 8 HP:0011003 \| High myopia \| 7 HP:0000545 \| Near sightedness \| 6 HP:0000639 \| Nystagmus \| 4 HP:0100021 \| Cerebral palsy \| 3 HP:0000486 \| Squint eyes \| 3 HP:0000540 \| Hypermetropia \| 2 HP:0011349 \| Sixth nerve palsy \| 2 HP:0002007 \| Frontal protruberance \| 1 HP:0000478 \| Abnormal eye \| 1 HP:0002277 \| Horner's syndrome \| 1 HP:0002194 \| Delayed motor skills \| 1 HP:0000577 \| Exotropia \| 1 HP:0000483 \| Astigmatism \| 1 HP:0001583 \| Rotatory Nystagmus \| 1 HP:0000484 \| Hyperopic astigmatism \| 1 HP:0000473 \| Spasmodic torticollis \| 1 HP:0000508 \| Drooping upper eyelid \| 1 HP:0000496 \| Ocular movement abnormalities \| 1 HP:0001270 \| Motor retardation \| 1 HP:0012641 \| Decreased intracranial pressure \| 1 HP:0002615 \| Low blood pressure \| 1 HP:0000622 \| Blurred vision \| 1 HP:0003011 \| Abnormality of the musculature \| 1 HP:0000666 \| Horizontal nystagmus \| 1 HP:0010566 \| Hamartoma \| 1 HP:0000568 \| Abnormally small globe of eye \| 1 HP:0001263 \| Developmental retardation \| 1

Disease ID	1300
Disease	esotropia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:12) C2237120 \| near vision C1963184 \| nystagmus C1270923 \| functional amblyopia C0155010 \| anomalous retinal correspondence C0152190 \| ametropic amblyopia C0037763 \| spasm C0025362 \| mental retardation C0015310 \| exotropia C0013261 \| duane retraction syndrome C0012569 \| diplopia C0010035 \| hereditary corneal dystrophy C0002418 \| amblyopia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0012569 \| diplopia \| 6 C0028738 \| nystagmus \| 3 C0013261 \| duane retraction syndrome \| 2 C0015310 \| exotropia \| 1 C0037763 \| spasm \| 1

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

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

All Snps(Total Genotypes:0)
(Waiting for update.)

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	1300
Disease	esotropia
Case	(Waiting for update.)

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