Human Phenotype Ontology 
Grandparent Node:
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Strabismus (HP:0000486)help
Parent Node:
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Esodeviation (HP:0020045)help
..Starting node
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Esotropia (HP:0000565)help
Term ID: 565
Name: Esotropia
Synonym: Inward turning cross eyed
Definition: A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.
Comments:
Reference: HP:0000565
Genes and Diseases:
 
       Child Nodes:
........expandAlternating esotropia (HP:0001137) help
........expandAccommodative esotropia (HP:0020046) help
................... HP:0031764 Fully accomodative esotropia
................... HP:0031765 Partially accomodative esotropia
................... HP:0031766 Convergence excess esotropia
........expandSecondary esotropia (HP:0031723) help
........expandNon-accomodative esotropia (HP:0031760) help
................... HP:0031722 Near esotropia
................... HP:0031759 Basic (constant) esotropia
................... HP:0031761 Infantile (constant) esotropia
................... HP:0031762 Distance esotropia
................... HP:0031763 Cyclic esotropia
........expandConsecutive esotropia (HP:0031767) help

 Sister Nodes: 
..expandEsophoria (HP:0025312) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000565HP:0000565Esotropia0ABCC9 CL E G H1006060OMIM:619719INTELLECTUAL DISABILITY AND MYOPATHY SYNDROME; IDMYS254
HP:0000565HP:0000565Esotropia0ADAT3 CL E G H11317925151OMIM:615286Mental retardation, autosomal recessive 36.9
HP:0000565HP:0000565Esotropia0ADGRG1 CL E G H92894512ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040282 - Frequent88
HP:0000565HP:0000565Esotropia0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0000565HP:0000565Esotropia0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare127
HP:0000565HP:0000565Esotropia0AGTPBP1 CL E G H2328717258ORPHA:2254Pontocerebellar hypoplasia type 11
HP:0000565HP:0000565Esotropia0AHCY CL E G H191343ORPHA:88618S-adenosylhomocysteine hydrolase deficiencyHP:0040282 - Frequent31
HP:0000565HP:0000565Esotropia0AHDC1 CL E G H2724525230ORPHA:412069AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndromeHP:0040283 - Occasional36
HP:0000565HP:0000565Esotropia0AHDC1 CL E G H2724525230OMIM:615829Xia-Gibbs syndrome.36
HP:0000565HP:0000565Esotropia0ALG2 CL E G H8536523159ORPHA:79326ALG2-CDGHP:0040282 - Frequent46
HP:0000565HP:0000565Esotropia0ALG9 CL E G H7979615672ORPHA:79328ALG9-CDGHP:0040283 - Occasional93
HP:0000565HP:0000565Esotropia0ALG9 CL E G H7979615672OMIM:608776Congenital disorder of glycosylation, type Il93
HP:0000565HP:0000565Esotropia0AMMECR1 CL E G H9949467OMIM:300990Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis.2
HP:0000565HP:0000565Esotropia0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000565HP:0000565Esotropia0APC CL E G H324583ORPHA:99818Turcot syndrome with polyposis3179
HP:0000565HP:0000565Esotropia0ARHGAP31 CL E G H5751429216OMIM:100300Adams-Oliver syndrome 1.147
HP:0000565HP:0000565Esotropia0ARPC4 CL E G H10093707OMIM:620141
HP:0000565HP:0000565Esotropia0ATAD3A CL E G H5521025567OMIM:617183Harel-Yoon syndrome.5
HP:0000565HP:0000565Esotropia0ATAD3A CL E G H5521025567ORPHA:496790Ocular anomalies-axonal neuropathy-developmental delay syndromeHP:0040283 - Occasional5
HP:0000565HP:0000565Esotropia0ATOH7 CL E G H22020213907OMIM:221900Persistent hyperplastic primary vitreous, autosomal recessive.4
HP:0000565HP:0000565Esotropia0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0000565HP:0000565Esotropia0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0000565HP:0000565Esotropia0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0000565HP:0000565Esotropia0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0000565HP:0000565Esotropia0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0000565HP:0000565Esotropia0CACNA1A CL E G H7731388OMIM:617106Epileptic encephalopathy, early infantile, 42.449
HP:0000565HP:0000565Esotropia0CAMK2B CL E G H8161461OMIM:617799Mental retardation, autosomal dominant 54
HP:0000565HP:0000565Esotropia0CARS1 CL E G H8331493ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000565HP:0000565Esotropia0CDC42BPB CL E G H95781738OMIM:619841
HP:0000565HP:0000565Esotropia0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare65
HP:0000565HP:0000565Esotropia0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0000565HP:0000565Esotropia0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0000565HP:0000565Esotropia0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000565HP:0000565Esotropia0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000565HP:0000565Esotropia0CLP1 CL E G H1097816999OMIM:615803Pontocerebellar hypoplasia, type 10.7
HP:0000565HP:0000565Esotropia0COG8 CL E G H8434218623ORPHA:95428COG8-CDG39
HP:0000565HP:0000565Esotropia0COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0000565HP:0000565Esotropia0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0000565HP:0000565Esotropia0COL12A1 CL E G H13032188ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent65
HP:0000565HP:0000565Esotropia0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare6
HP:0000565HP:0000565Esotropia0COL4A2 CL E G H12842203OMIM:614483PORENCEPHALY 2; POREN2147
HP:0000565HP:0000565Esotropia0COL6A1 CL E G H12912211ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent442
HP:0000565HP:0000565Esotropia0COL6A2 CL E G H12922212ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent478
HP:0000565HP:0000565Esotropia0COL6A3 CL E G H12932213ORPHA:75840Congenital muscular dystrophy, Ullrich typeHP:0040282 - Frequent702
HP:0000565HP:0000565Esotropia0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare3
HP:0000565HP:0000565Esotropia0CPLANE1 CL E G H6525025801ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000565HP:0000565Esotropia0CPLANE1 CL E G H6525025801OMIM:277170Orofaciodigital syndrome VI.
HP:0000565HP:0000565Esotropia0CRB1 CL E G H234182343OMIM:172870Pigmented paravenous chorioretinal atrophy.156
HP:0000565HP:0000565Esotropia0CYB5A CL E G H15282570ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional2
HP:0000565HP:0000565Esotropia0CYB5R3 CL E G H17272873ORPHA:621Hereditary methemoglobinemiaHP:0040283 - Occasional24
HP:0000565HP:0000565Esotropia0DDOST CL E G H16502728ORPHA:300536DDOST-CDGHP:0040281 - Very frequent62
HP:0000565HP:0000565Esotropia0DLK1 CL E G H87882907ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000565HP:0000565Esotropia0DPM1 CL E G H88133005ORPHA:79322DPM1-CDGHP:0040283 - Occasional27
HP:0000565HP:0000565Esotropia0DPP6 CL E G H18043010ORPHA:2514Autosomal dominant primary microcephaly18
HP:0000565HP:0000565Esotropia0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0000565HP:0000565Esotropia0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0000565HP:0000565Esotropia0EMC1 CL E G H2306528957ORPHA:480898Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndromeHP:0040283 - Occasional5
HP:0000565HP:0000565Esotropia0ERCC2 CL E G H20683434ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional106
HP:0000565HP:0000565Esotropia0ERCC3 CL E G H20713435ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional54
HP:0000565HP:0000565Esotropia0EXOSC3 CL E G H5101017944ORPHA:2254Pontocerebellar hypoplasia type 138
HP:0000565HP:0000565Esotropia0EXOSC5 CL E G H5691524662OMIM:619576CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS; CABAC
HP:0000565HP:0000565Esotropia0EXOSC8 CL E G H1134017035ORPHA:2254Pontocerebellar hypoplasia type 14
HP:0000565HP:0000565Esotropia0EXOSC9 CL E G H53939137ORPHA:2254Pontocerebellar hypoplasia type 1
HP:0000565HP:0000565Esotropia0EXOSC9 CL E G H53939137OMIM:618065Pontocerebellar hypoplasia, type 1D
HP:0000565HP:0000565Esotropia0FAM149B1 CL E G H31766229162ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent
HP:0000565HP:0000565Esotropia0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0000565HP:0000565Esotropia0FBXO28 CL E G H2321929046OMIM:619777DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0000565HP:0000565Esotropia0FRMD5 CL E G H8497828214OMIM:620094
HP:0000565HP:0000565Esotropia0FZD4 CL E G H83224042OMIM:133780Exudative vitreoretinopathy 1109
HP:0000565HP:0000565Esotropia0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0000565HP:0000565Esotropia0GBA1 CL E G H26294177OMIM:230900Gaucher disease, type II.
HP:0000565HP:0000565Esotropia0GLRB CL E G H27434329OMIM:614619Hyperekplexia 246
HP:0000565HP:0000565Esotropia0GNA14 CL E G H96304382ORPHA:1063Tufted angiomaHP:0040283 - Occasional
HP:0000565HP:0000565Esotropia0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000565HP:0000565Esotropia0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare33
HP:0000565HP:0000565Esotropia0GRID2 CL E G H28954576OMIM:616204SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR1818
HP:0000565HP:0000565Esotropia0GRM1 CL E G H29114593ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiencyHP:0040282 - Frequent8
HP:0000565HP:0000565Esotropia0GRM1 CL E G H29114593OMIM:614831SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR138
HP:0000565HP:0000565Esotropia0GTF2E2 CL E G H29614651ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional2
HP:0000565HP:0000565Esotropia0GTF2E2 CL E G H29614651OMIM:616943Trichothiodystrophy 6, nonphotosensitive2
HP:0000565HP:0000565Esotropia0GTF2H5 CL E G H40467221157ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000565HP:0000565Esotropia0H4C11 CL E G H83634785OMIM:619759TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2; TEVANED2
HP:0000565HP:0000565Esotropia0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000565HP:0000565Esotropia0HMGB3 CL E G H31495004OMIM:300915Microphthalmia, syndromic 13.2
HP:0000565HP:0000565Esotropia0HOXB1 CL E G H32115111OMIM:614744Facial paresis, hereditary congenital, 3HP:0040283 - Occasional2
HP:0000565HP:0000565Esotropia0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0000565HP:0000565Esotropia0HPS3 CL E G H8434315597OMIM:614072Hermansky-Pudlak syndrome 367
HP:0000565HP:0000565Esotropia0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type.98
HP:0000565HP:0000565Esotropia0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia.25
HP:0000565HP:0000565Esotropia0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000565HP:0000565Esotropia0IRF2BPL CL E G H6420714282OMIM:618088Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures.
HP:0000565HP:0000565Esotropia0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000565HP:0000565Esotropia0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000565HP:0000565Esotropia0KCNMA1 CL E G H37786284ORPHA:79137Generalized epilepsy-paroxysmal dyskinesia syndromeHP:0040283 - Occasional114
HP:0000565HP:0000565Esotropia0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000565HP:0000565Esotropia0KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0000565HP:0000565Esotropia0KIAA0753 CL E G H985129110ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent4
HP:0000565HP:0000565Esotropia0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0000565HP:0000565Esotropia0KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0000565HP:0000565Esotropia0KIF7 CL E G H37465430497ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent167
HP:0000565HP:0000565Esotropia0LAGE3 CL E G H827026058OMIM:301006Galloway-Mowat syndrome 2, X-linked.
HP:0000565HP:0000565Esotropia0LGI4 CL E G H16317518712OMIM:617468Arthrogryposis multiplex congenita, neurogenic, with myelin defect.6
HP:0000565HP:0000565Esotropia0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000565HP:0000565Esotropia0LMNB1 CL E G H40016637ORPHA:2514Autosomal dominant primary microcephaly44
HP:0000565HP:0000565Esotropia0LRP5 CL E G H40416697OMIM:133780Exudative vitreoretinopathy 1125
HP:0000565HP:0000565Esotropia0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000565HP:0000565Esotropia0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040283 - Occasional63
HP:0000565HP:0000565Esotropia0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000565HP:0000565Esotropia0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0000565HP:0000565Esotropia0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000565HP:0000565Esotropia0MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0000565HP:0000565Esotropia0MEG3 CL E G H5538414575ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional1
HP:0000565HP:0000565Esotropia0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000565HP:0000565Esotropia0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000565HP:0000565Esotropia0MPLKIP CL E G H13664716002ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional9
HP:0000565HP:0000565Esotropia0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare
HP:0000565HP:0000565Esotropia0MYOD1 CL E G H46547611OMIM:618975MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0000565HP:0000565Esotropia0NALCN CL E G H25923219082OMIM:616266Congenital contractures of the limbs and face, hypotonia, and developmental delay48
HP:0000565HP:0000565Esotropia0NALCN CL E G H25923219082ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent48
HP:0000565HP:0000565Esotropia0NCDN CL E G H2315417597OMIM:619373NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS; NEDIES
HP:0000565HP:0000565Esotropia0NEUROD2 CL E G H47617763OMIM:618374Epileptic encephalopathy, early infantile, 72.
HP:0000565HP:0000565Esotropia0NEXMIF CL E G H34053329433OMIM:300912Mental retardation, X-linked 9852
HP:0000565HP:0000565Esotropia0NEXMIF CL E G H34053329433ORPHA:85277X-linked intellectual disability, Cantagrel typeHP:0040282 - Frequent52
HP:0000565HP:0000565Esotropia0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000565HP:0000565Esotropia0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0000565HP:0000565Esotropia0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000565HP:0000565Esotropia0NTNG2 CL E G H8462814288OMIM:618718NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA; NEDBASH
HP:0000565HP:0000565Esotropia0OFD1 CL E G H84812567ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent201
HP:0000565HP:0000565Esotropia0OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare4
HP:0000565HP:0000565Esotropia0PCDHGC4 CL E G H560988717OMIM:619880
HP:0000565HP:0000565Esotropia0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0000565HP:0000565Esotropia0PDE6D CL E G H51478788ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent1
HP:0000565HP:0000565Esotropia0PEX5 CL E G H58309719OMIM:202370Peroxisome biogenesis disorder 2B.99
HP:0000565HP:0000565Esotropia0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0000565HP:0000565Esotropia0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0000565HP:0000565Esotropia0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040282 - Frequent37
HP:0000565HP:0000565Esotropia0PIDD1 CL E G H5536716491OMIM:619827INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY; MRT75
HP:0000565HP:0000565Esotropia0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0000565HP:0000565Esotropia0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000565HP:0000565Esotropia0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0000565HP:0000565Esotropia0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0000565HP:0000565Esotropia0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0000565HP:0000565Esotropia0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0000565HP:0000565Esotropia0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0000565HP:0000565Esotropia0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0000565HP:0000565Esotropia0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040282 - Frequent150
HP:0000565HP:0000565Esotropia0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000565HP:0000565Esotropia0POLG CL E G H54289179OMIM:258450Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive464
HP:0000565HP:0000565Esotropia0POU4F1 CL E G H54579218OMIM:619352ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET; ATITHS
HP:0000565HP:0000565Esotropia0PPP1R21 CL E G H12928530595OMIM:619383NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0000565HP:0000565Esotropia0PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome10
HP:0000565HP:0000565Esotropia0PRKAR1B CL E G H55759390OMIM:619680MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME; MASNS2
HP:0000565HP:0000565Esotropia0PTEN CL E G H57289588ORPHA:101070Bilateral frontoparietal polymicrogyriaHP:0040282 - Frequent948
HP:0000565HP:0000565Esotropia0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000565HP:0000565Esotropia0PURA CL E G H58139701OMIM:616158Mental retardation, autosomal dominant 3153
HP:0000565HP:0000565Esotropia0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000565HP:0000565Esotropia0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000565HP:0000565Esotropia0PYCR2 CL E G H2992030262ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathyHP:0040283 - Occasional11
HP:0000565HP:0000565Esotropia0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000565HP:0000565Esotropia0RNASEH1 CL E G H24624318466ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional3
HP:0000565HP:0000565Esotropia0RNF113A CL E G H773712974ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional3
HP:0000565HP:0000565Esotropia0ROBO3 CL E G H6422113433OMIM:607313Gaze palsy, familial horizontal, with progressive scoliosis, 190
HP:0000565HP:0000565Esotropia0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0000565HP:0000565Esotropia0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0000565HP:0000565Esotropia0RRM2B CL E G H5048417296ORPHA:329336Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathyHP:0040283 - Occasional125
HP:0000565HP:0000565Esotropia0RTL1 CL E G H38801514665ORPHA:254528Kagami-Ogata syndrome due to maternal 14q32.2 microdeletionHP:0040283 - Occasional
HP:0000565HP:0000565Esotropia0SALL2 CL E G H629710526OMIM:216820COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE1
HP:0000565HP:0000565Esotropia0SEC23A CL E G H1048410701OMIM:607812Craniolenticulosutural dysplasiaHP:0040283 - Occasional2
HP:0000565HP:0000565Esotropia0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0000565HP:0000565Esotropia0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0000565HP:0000565Esotropia0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0000565HP:0000565Esotropia0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0000565HP:0000565Esotropia0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare28
HP:0000565HP:0000565Esotropia0SLC25A46 CL E G H9113725198ORPHA:2254Pontocerebellar hypoplasia type 114
HP:0000565HP:0000565Esotropia0SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 213
HP:0000565HP:0000565Esotropia0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare9
HP:0000565HP:0000565Esotropia0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0000565HP:0000565Esotropia0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000565HP:0000565Esotropia0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000565HP:0000565Esotropia0SOBP CL E G H5508429256OMIM:613671Mental retardation, anterior maxillary protrusion, and strabismusHP:0040283 - Occasional29
HP:0000565HP:0000565Esotropia0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000565HP:0000565Esotropia0SOST CL E G H5096413771OMIM:269500Sclerosteosis 1.26
HP:0000565HP:0000565Esotropia0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary.1
HP:0000565HP:0000565Esotropia0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040282 - Frequent1
HP:0000565HP:0000565Esotropia0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare4
HP:0000565HP:0000565Esotropia0TARS1 CL E G H689711572ORPHA:33364TrichothiodystrophyHP:0040283 - Occasional
HP:0000565HP:0000565Esotropia0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0000565HP:0000565Esotropia0TBC1D2B CL E G H2310229183ORPHA:397973Intellectual disability-obesity-prognathism-eye and skin anomalies syndromeHP:0040282 - Frequent
HP:0000565HP:0000565Esotropia0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000565HP:0000565Esotropia0TCTN3 CL E G H2612324519ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent31
HP:0000565HP:0000565Esotropia0TENM3 CL E G H5571429944OMIM:615145Microphthalmia, isolated, with coloboma 9.12
HP:0000565HP:0000565Esotropia0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0000565HP:0000565Esotropia0TMEM216 CL E G H5125925018ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent45
HP:0000565HP:0000565Esotropia0TOPORS CL E G H1021021653ORPHA:2754Orofaciodigital syndrome type 6HP:0040282 - Frequent61
HP:0000565HP:0000565Esotropia0TRIT1 CL E G H5480220286OMIM:617873Combined oxidative phosphorylation deficiency 35.12
HP:0000565HP:0000565Esotropia0TUBB3 CL E G H1038120772ORPHA:300570Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutationHP:0040282 - Frequent64
HP:0000565HP:0000565Esotropia0UFSP2 CL E G H5532525640OMIM:6200282
HP:0000565HP:0000565Esotropia0UNC80 CL E G H28517526582OMIM:616801Hypotonia, infantile, with psychomotor retardation and characteristic facies 223
HP:0000565HP:0000565Esotropia0UNC80 CL E G H28517526582ORPHA:371364Hypotonia-speech impairment-severe cognitive delay syndromeHP:0040281 - Very frequent23
HP:0000565HP:0000565Esotropia0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000565HP:0000565Esotropia0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040284 - Very rare2
HP:0000565HP:0000565Esotropia0VRK1 CL E G H744312718ORPHA:2254Pontocerebellar hypoplasia type 132
HP:0000565HP:0000565Esotropia0VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare47
HP:0000565HP:0000565Esotropia0ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040284 - Very rare8
HP:0000565HP:0000565Esotropia0ZEB2 CL E G H983914881OMIM:235730Mowat-Wilson syndrome.362
HP:0000565HP:0000565Esotropia0ZSWIM6 CL E G H5768829316OMIM:617865Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features.5
HP:0000565HP:0031760Non-accomodative esotropia1 CL E G H
HP:0000565HP:0031767Consecutive esotropia1 CL E G H
HP:0000565HP:0001137Alternating esotropia1APC CL E G H324583ORPHA:99818Turcot syndrome with polyposisHP:0040283 - Occasional3179
HP:0000565HP:0020046Accommodative esotropia1ARPC4 CL E G H10093707OMIM:620141
HP:0000565HP:0001137Alternating esotropia1CDC42BPB CL E G H95781738OMIM:619841
HP:0000565HP:0001137Alternating esotropia1CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000565HP:0001137Alternating esotropia1COG8 CL E G H8434218623ORPHA:95428COG8-CDGHP:0040283 - Occasional39
HP:0000565HP:0001137Alternating esotropia1COG8 CL E G H8434218623OMIM:611182Congenital disorder of glycosylation, type IIh39
HP:0000565HP:0001137Alternating esotropia1DPP6 CL E G H18043010ORPHA:2514Autosomal dominant primary microcephalyHP:0040282 - Frequent18
HP:0000565HP:0031723Secondary esotropia1KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0000565HP:0001137Alternating esotropia1LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000565HP:0001137Alternating esotropia1LMNB1 CL E G H40016637ORPHA:2514Autosomal dominant primary microcephalyHP:0040282 - Frequent44
HP:0000565HP:0020046Accommodative esotropia1MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228
HP:0000565HP:0001137Alternating esotropia1PPP2R5D CL E G H55289312ORPHA:457279Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndromeHP:0040284 - Very rare10
HP:0000565HP:0001137Alternating esotropia1SLC38A8 CL E G H14616732434OMIM:609218Foveal hypoplasia 2HP:0040283 - Occasional13
HP:0000565HP:0020046Accommodative esotropia1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000565HP:0031722Near esotropia2 CL E G H
HP:0000565HP:0031764Fully accomodative esotropia2 CL E G H
HP:0000565HP:0031763Cyclic esotropia2 CL E G H
HP:0000565HP:0031762Distance esotropia2 CL E G H
HP:0000565HP:0031761Infantile constant esotropia2 CL E G H
HP:0000565HP:0031759Basic constant esotropia2 CL E G H
HP:0000565HP:0031765Partially accomodative esotropia2 CL E G H
HP:0000565HP:0031766Convergence excess esotropia2MED12 CL E G H996811957OMIM:301068HARDIKAR SYNDROME; HDKR228


Genes (187) :ABCC9 ADAT3 ADGRG1 AGRN AGTPBP1 AHCY AHDC1 ALG2 ALG9 AMMECR1 AP1G1 APC ARHGAP31 ARPC4 ATAD3A ATOH7 ATP1A2 ATP1A3 B3GAT3 BLOC1S3 CACNA1A CAMK2B CARS1 CDC42BPB CHAT CHMP1A CHST3 CLCN3 CLCN6 CLP1 COG8 COL11A1 COL12A1 COL13A1 COL4A2 COL6A1 COL6A2 COL6A3 COL8A2 CPLANE1 CRB1 CYB5A CYB5R3 DDOST DLK1 DPM1 DPP6 DYRK1A EMC1 ERCC2 ERCC3 EXOSC3 EXOSC5 EXOSC8 EXOSC9 FAM149B1 FBN1 FBXO28 FRMD5 FZD4 GALC GBA1 GLRB GNA14 GNB1 GRHL2 GRID2 GRM1 GTF2E2 GTF2H5 H4C11 HERC2 HMGB3 HOXB1 HPDL HPS3 HUWE1 IARS2 IPW IRF2BPL KAT6A KAT8 KCNMA1 KDM6B KIAA0753 KIDINS220 KIF21A KIF7 LAGE3 LGI4 LMBRD2 LMNB1 LRP5 MADD MAGEL2 MBD5 MED12 MEG3 MKRN3 MKRN3-AS1 MPLKIP MYO9A MYOD1 NALCN NCDN NEUROD2 NEXMIF NPAP1 NR2F1 NSD1 NTNG2 OFD1 OVOL2 PCDHGC4 PDE4D PDE6D PEX5 PGAP2 PGAP3 PHGDH PIDD1 PIGL PIGN PIGO PIGT PIGV PIGW PIGY PMM2 POLA1 POLG POU4F1 PPP1R21 PPP2R5D PRKAR1B PTEN PUF60 PURA PWAR1 PWRN1 PYCR2 RERE RNASEH1 RNF113A ROBO3 RORA RRAS2 RRM2B RTL1 SALL2 SEC23A SIAH1 SLC12A6 SLC18A3 SLC1A3 SLC25A1 SLC25A46 SLC38A8 SLC5A7 SNAP25 SNORD115-1 SNORD116-1 SOBP SON SOST SREBF1 SYT1 SYT2 TARS1 TBC1D23 TBC1D2B TBX1 TCTN3 TENM3 TMEM216 TOPORS TRIT1 TUBB3 UFSP2 UNC80 USP7 VAMP1 VRK1 VSX1 ZEB1 ZEB2 ZSWIM6

Diseases (143) :OMIM:619719 OMIM:615286 ORPHA:101070 OMIM:606854 ORPHA:98914 ORPHA:2254 ORPHA:88618 ORPHA:412069 OMIM:615829 ORPHA:79326 ORPHA:79328 OMIM:608776 OMIM:300990 OMIM:619467 ORPHA:99818 OMIM:100300 OMIM:620141 OMIM:617183 ORPHA:496790 OMIM:221900 ORPHA:2131 OMIM:245600 OMIM:614077 OMIM:617106 OMIM:617799 ORPHA:33364 OMIM:619841 OMIM:614961 OMIM:619512 OMIM:619173 OMIM:615803 ORPHA:95428 OMIM:611182 OMIM:154780 ORPHA:75840 OMIM:614483 ORPHA:98973 ORPHA:2754 OMIM:277170 OMIM:172870 ORPHA:621 ORPHA:300536 ORPHA:254528 ORPHA:79322 ORPHA:2514 ORPHA:268261 OMIM:616875 ORPHA:480898 OMIM:619576 OMIM:618065 OMIM:154700 OMIM:619777 OMIM:620094 OMIM:133780 ORPHA:206443 OMIM:230900 OMIM:614619 ORPHA:1063 OMIM:616973 OMIM:616204 ORPHA:324262 OMIM:614831 OMIM:616943 OMIM:619759 OMIM:176270 OMIM:300915 OMIM:614744 OMIM:619026 OMIM:614072 OMIM:309590 OMIM:616007 OMIM:618088 OMIM:616268 OMIM:618974 ORPHA:79137 OMIM:618505 OMIM:619476 OMIM:617296 OMIM:135700 OMIM:301006 OMIM:617468 OMIM:619694 OMIM:619004 ORPHA:398069 OMIM:615547 OMIM:156200 OMIM:301068 OMIM:618975 OMIM:616266 ORPHA:371364 OMIM:619373 OMIM:618374 OMIM:300912 ORPHA:85277 ORPHA:401777 OMIM:117550 OMIM:618718 OMIM:619880 ORPHA:439822 OMIM:202370 ORPHA:247262 ORPHA:79351 OMIM:619827 ORPHA:280633 OMIM:615398 OMIM:212065 ORPHA:79318 OMIM:301030 OMIM:258450 OMIM:619352 OMIM:619383 ORPHA:457279 OMIM:619680 ORPHA:508498 OMIM:616158 ORPHA:481152 ORPHA:494344 ORPHA:329336 OMIM:607313 OMIM:618060 OMIM:618624 OMIM:216820 OMIM:607812 OMIM:619314 OMIM:218000 OMIM:609218 OMIM:613671 ORPHA:500150 OMIM:269500 OMIM:158310 ORPHA:522077 OMIM:617695 ORPHA:397973 OMIM:188400 OMIM:615145 OMIM:608091 OMIM:617873 ORPHA:300570 OMIM:620028 OMIM:616801 ORPHA:500055 OMIM:235730 OMIM:617865
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.