Human Phenotype Ontology 
Grandparent Node:
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Abnormal conjugate eye movement (HP:0000549)help
Parent Node:
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Strabismus (HP:0000486)help
..Starting node
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Exodeviation (HP:0020049)help
Term ID: 20049
Name: Exodeviation
Synonym: Divergent strabismus
Definition: A manifest or latent ocular deviation in which one or both eyes tends to deviate temporally.
Comments:
Reference: HP:0020049
Genes and Diseases:
 
       Child Nodes:
........expandExotropia (HP:0000577) help
................... HP:0008033 Congenital exotropia
................... HP:0031713 Constant exotropia
................... HP:0031714 Distance exotropia
................... HP:0031715 Near exotropia
................... HP:0031716 Cyclic exotropia
................... HP:0031717 Alternating exotropia
................... HP:0031718 Consecutive exotropia
................... HP:0031721 Sensory exotropia
........expandExophoria (HP:0025313) help

 Sister Nodes: 
..expandConcomitant strabismus (HP:0025069) help
..expandCyclodeviation (HP:0025589) help
..expandEsodeviation (HP:0020045) help
..expandHyperdeviation (HP:0025587) help
..expandHypodeviation (HP:0025588) help
..expandIncomitant strabismus (HP:0025068) help
..expandMicrotropia (HP:0031724) help
..expandMonocular strabismus (HP:0010877) help
..expandNeurogenic strabismus (HP:0031775) help
..expandobsolete Congenital strabismus (HP:0000487) 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:0020049HP:0020049Exodeviation0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency111
HP:0020049HP:0020049Exodeviation0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0020049HP:0020049Exodeviation0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0020049HP:0020049Exodeviation0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal88
HP:0020049HP:0020049Exodeviation0ADNP CL E G H2339415766ORPHA:404448ADNP syndrome47
HP:0020049HP:0020049Exodeviation0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome6
HP:0020049HP:0020049Exodeviation0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0020049HP:0020049Exodeviation0ARPC4 CL E G H10093707OMIM:620141
HP:0020049HP:0020049Exodeviation0ATP13A2 CL E G H2340030213OMIM:617225SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE; SPG78100
HP:0020049HP:0020049Exodeviation0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhood239
HP:0020049HP:0020049Exodeviation0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhood150
HP:0020049HP:0020049Exodeviation0ATP1A3 CL E G H478801OMIM:619606DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99150
HP:0020049HP:0020049Exodeviation0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1169
HP:0020049HP:0020049Exodeviation0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2101
HP:0020049HP:0020049Exodeviation0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome17
HP:0020049HP:0020049Exodeviation0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 842
HP:0020049HP:0020049Exodeviation0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhood449
HP:0020049HP:0020049Exodeviation0CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0020049HP:0020049Exodeviation0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome6
HP:0020049HP:0020049Exodeviation0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0020049HP:0020049Exodeviation0CDH11 CL E G H10091750OMIM:211380Elsahy-Waters syndrome.2
HP:0020049HP:0020049Exodeviation0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies193
HP:0020049HP:0020049Exodeviation0CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0020049HP:0020049Exodeviation0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies4
HP:0020049HP:0020049Exodeviation0DNMBP CL E G H2326830373OMIM:618415Cataract 48
HP:0020049HP:0020049Exodeviation0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij38
HP:0020049HP:0020049Exodeviation0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDG38
HP:0020049HP:0020049Exodeviation0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutation134
HP:0020049HP:0020049Exodeviation0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome27
HP:0020049HP:0020049Exodeviation0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0020049HP:0020049Exodeviation0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0020049HP:0020049Exodeviation0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0020049HP:0020049Exodeviation0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndrome17
HP:0020049HP:0020049Exodeviation0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndrome175
HP:0020049HP:0020049Exodeviation0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricans145
HP:0020049HP:0020049Exodeviation0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndrome145
HP:0020049HP:0020049Exodeviation0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0020049HP:0020049Exodeviation0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0020049HP:0020049Exodeviation0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0020049HP:0020049Exodeviation0GMPPA CL E G H2992622923OMIM:615510Alacrima, achalasia, and mental retardation syndrome24
HP:0020049HP:0020049Exodeviation0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0020049HP:0020049Exodeviation0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0020049HP:0020049Exodeviation0GRIA1 CL E G H28904571OMIM:6199313
HP:0020049HP:0020049Exodeviation0H4C5 CL E G H83674790OMIM:619950
HP:0020049HP:0020049Exodeviation0HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndrome10
HP:0020049HP:0020049Exodeviation0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency99
HP:0020049HP:0020049Exodeviation0HMX1 CL E G H31665017OMIM:612109Oculoauricular syndrome2
HP:0020049HP:0020049Exodeviation0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0020049HP:0020049Exodeviation0HPDL CL E G H8484228242OMIM:619026NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0020049HP:0020049Exodeviation0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0020049HP:0020049Exodeviation0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome3
HP:0020049HP:0020049Exodeviation0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities9
HP:0020049HP:0020049Exodeviation0KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 193
HP:0020049HP:0020049Exodeviation0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophy70
HP:0020049HP:0020049Exodeviation0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophy62
HP:0020049HP:0020049Exodeviation0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 810
HP:0020049HP:0020049Exodeviation0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0020049HP:0020049Exodeviation0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II124
HP:0020049HP:0020049Exodeviation0MRPS2 CL E G H5111614495OMIM:617950Combined oxidative phosphorylation deficiency 36
HP:0020049HP:0020049Exodeviation0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 321
HP:0020049HP:0020049Exodeviation0MTRFR CL E G H9157426784ORPHA:254930Combined oxidative phosphorylation defect type 7HP:0040283 - Occasional
HP:0020049HP:0020049Exodeviation0MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0020049HP:0020049Exodeviation0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndrome32
HP:0020049HP:0020049Exodeviation0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0020049HP:0020049Exodeviation0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0020049HP:0020049Exodeviation0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndrome37
HP:0020049HP:0020049Exodeviation0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II121
HP:0020049HP:0020049Exodeviation0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0020049HP:0020049Exodeviation0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0020049HP:0020049Exodeviation0PCDHGC4 CL E G H560988717OMIM:619880
HP:0020049HP:0020049Exodeviation0PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 26
HP:0020049HP:0020049Exodeviation0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0020049HP:0020049Exodeviation0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0020049HP:0020049Exodeviation0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome49
HP:0020049HP:0020049Exodeviation0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0020049HP:0020049Exodeviation0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic disease6
HP:0020049HP:0020049Exodeviation0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset6
HP:0020049HP:0020049Exodeviation0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndrome19
HP:0020049HP:0020049Exodeviation0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0020049HP:0020049Exodeviation0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndrome16
HP:0020049HP:0020049Exodeviation0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0020049HP:0020049Exodeviation0RP1L1 CL E G H9413715946OMIM:618826RETINITIS PIGMENTOSA 88; RP88284
HP:0020049HP:0020049Exodeviation0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophy129
HP:0020049HP:0020049Exodeviation0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome10
HP:0020049HP:0020049Exodeviation0SALL2 CL E G H629710526OMIM:216820COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE1
HP:0020049HP:0020049Exodeviation0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect40
HP:0020049HP:0020049Exodeviation0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0020049HP:0020049Exodeviation0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0020049HP:0020049Exodeviation0SLC17A5 CL E G H2650310933OMIM:604369Salla disease78
HP:0020049HP:0020049Exodeviation0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhood63
HP:0020049HP:0020049Exodeviation0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0020049HP:0020049Exodeviation0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDG27
HP:0020049HP:0020049Exodeviation0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked122
HP:0020049HP:0020049Exodeviation0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0020049HP:0020049Exodeviation0SNRPN CL E G H663811164OMIM:105830Angelman syndrome37
HP:0020049HP:0020049Exodeviation0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome12
HP:0020049HP:0020049Exodeviation0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiency11
HP:0020049HP:0020049Exodeviation0SPATA5 CL E G H16637818119ORPHA:457351Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndromeHP:0040284 - Very rare19
HP:0020049HP:0020049Exodeviation0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophy48
HP:0020049HP:0020049Exodeviation0TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndrome7
HP:0020049HP:0020049Exodeviation0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome32
HP:0020049HP:0020049Exodeviation0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0020049HP:0020049Exodeviation0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0020049HP:0020049Exodeviation0THOC2 CL E G H5718719073OMIM:300957Mental retardation, X-linked 12/355
HP:0020049HP:0020049Exodeviation0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 333
HP:0020049HP:0020049Exodeviation0TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome166
HP:0020049HP:0020049Exodeviation0TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R1827
HP:0020049HP:0020049Exodeviation0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement64
HP:0020049HP:0020049Exodeviation0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA146
HP:0020049HP:0020049Exodeviation0UBE3A CL E G H733712496OMIM:105830Angelman syndrome278
HP:0020049HP:0020049Exodeviation0UFSP2 CL E G H5532525640OMIM:6200282
HP:0020049HP:0020049Exodeviation0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures2
HP:0020049HP:0020049Exodeviation0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defect2
HP:0020049HP:0020049Exodeviation0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0020049HP:0020049Exodeviation0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome19
HP:0020049HP:0000577Exotropia1ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency.111
HP:0020049HP:0000577Exotropia1ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0020049HP:0000577Exotropia1ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0020049HP:0000577Exotropia1ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal.88
HP:0020049HP:0000577Exotropia1ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0020049HP:0025313Exophoria1AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0020049HP:0000577Exotropia1ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0020049HP:0000577Exotropia1ARPC4 CL E G H10093707OMIM:620141
HP:0020049HP:0000577Exotropia1ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0020049HP:0000577Exotropia1ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0020049HP:0000577Exotropia1ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0020049HP:0000577Exotropia1BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0020049HP:0000577Exotropia1BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0020049HP:0000577Exotropia1BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0020049HP:0000577Exotropia1CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0020049HP:0000577Exotropia1CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0020049HP:0000577Exotropia1CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0020049HP:0000577Exotropia1CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0020049HP:0000577Exotropia1COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0020049HP:0000577Exotropia1CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0020049HP:0000577Exotropia1CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0020049HP:0000577Exotropia1DNMBP CL E G H2326830373OMIM:618415Cataract 48.
HP:0020049HP:0000577Exotropia1DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0020049HP:0000577Exotropia1DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0020049HP:0000577Exotropia1DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0020049HP:0000577Exotropia1EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0020049HP:0000577Exotropia1EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0020049HP:0000577Exotropia1FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0020049HP:0000577Exotropia1FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0020049HP:0000577Exotropia1FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare17
HP:0020049HP:0000577Exotropia1FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare175
HP:0020049HP:0000577Exotropia1FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricansHP:0040283 - Occasional145
HP:0020049HP:0000577Exotropia1FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare145
HP:0020049HP:0000577Exotropia1GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0020049HP:0025313Exophoria1GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0020049HP:0025313Exophoria1GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0020049HP:0000577Exotropia1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0020049HP:0000577Exotropia1GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0020049HP:0000577Exotropia1H4C5 CL E G H83674790OMIM:619950
HP:0020049HP:0025313Exophoria1HACE1 CL E G H5753121033ORPHA:464282Spastic paraplegia-severe developmental delay-epilepsy syndromeHP:0040282 - Frequent10
HP:0020049HP:0000577Exotropia1HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent99
HP:0020049HP:0000577Exotropia1HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0020049HP:0000577Exotropia1KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0020049HP:0000577Exotropia1KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040282 - Frequent3
HP:0020049HP:0000577Exotropia1KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0020049HP:0000577Exotropia1KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0020049HP:0000577Exotropia1LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0020049HP:0000577Exotropia1LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0020049HP:0000577Exotropia1LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0020049HP:0000577Exotropia1MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0020049HP:0000577Exotropia1MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0020049HP:0000577Exotropia1MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0020049HP:0000577Exotropia1MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies.
HP:0020049HP:0000577Exotropia1NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040284 - Very rare32
HP:0020049HP:0000577Exotropia1NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0020049HP:0000577Exotropia1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0020049HP:0000577Exotropia1NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0020049HP:0000577Exotropia1OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0020049HP:0000577Exotropia1P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0020049HP:0000577Exotropia1PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0020049HP:0000577Exotropia1PCDHGC4 CL E G H560988717OMIM:619880
HP:0020049HP:0000577Exotropia1PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 2.6
HP:0020049HP:0000577Exotropia1POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0020049HP:0000577Exotropia1POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0020049HP:0000577Exotropia1PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0020049HP:0000577Exotropia1PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0020049HP:0000577Exotropia1PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0020049HP:0000577Exotropia1PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0020049HP:0000577Exotropia1PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0020049HP:0000577Exotropia1PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0020049HP:0000577Exotropia1RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0020049HP:0000577Exotropia1RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0020049HP:0000577Exotropia1RP1L1 CL E G H9413715946OMIM:618826RETINITIS PIGMENTOSA 88; RP88284
HP:0020049HP:0000577Exotropia1RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0020049HP:0000577Exotropia1RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0020049HP:0000577Exotropia1SALL2 CL E G H629710526OMIM:216820COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE1
HP:0020049HP:0000577Exotropia1SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0020049HP:0000577Exotropia1SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0020049HP:0000577Exotropia1SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0020049HP:0000577Exotropia1SLC17A5 CL E G H2650310933OMIM:604369Salla disease.78
HP:0020049HP:0000577Exotropia1SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0020049HP:0000577Exotropia1SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0020049HP:0000577Exotropia1SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040283 - Occasional27
HP:0020049HP:0000577Exotropia1SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0020049HP:0000577Exotropia1SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0020049HP:0000577Exotropia1SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0020049HP:0000577Exotropia1SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0020049HP:0000577Exotropia1SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040282 - Frequent11
HP:0020049HP:0000577Exotropia1SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0020049HP:0000577Exotropia1TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndromeHP:0040283 - Occasional7
HP:0020049HP:0000577Exotropia1TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0020049HP:0000577Exotropia1TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0020049HP:0000577Exotropia1TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0020049HP:0000577Exotropia1THOC2 CL E G H5718719073OMIM:300957Mental retardation, X-linked 12/355
HP:0020049HP:0000577Exotropia1TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0020049HP:0000577Exotropia1TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome.166
HP:0020049HP:0025313Exophoria1TRAPPC11 CL E G H6068425751ORPHA:369840TRAPPC11-related limb-girdle muscular dystrophy R18HP:0040283 - Occasional27
HP:0020049HP:0000577Exotropia1TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement.64
HP:0020049HP:0000577Exotropia1TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0020049HP:0000577Exotropia1UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0020049HP:0000577Exotropia1UFSP2 CL E G H5532525640OMIM:6200282
HP:0020049HP:0000577Exotropia1WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0020049HP:0000577Exotropia1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0020049HP:0000577Exotropia1WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0020049HP:0000577Exotropia1ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0020049HP:0031718Consecutive exotropia2 CL E G H
HP:0020049HP:0031716Cyclic exotropia2 CL E G H
HP:0020049HP:0031715Near exotropia2 CL E G H
HP:0020049HP:0031714Distance exotropia2 CL E G H
HP:0020049HP:0031717Alternating exotropia2ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0020049HP:0031717Alternating exotropia2FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0020049HP:0031717Alternating exotropia2GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0020049HP:0031717Alternating exotropia2H4C5 CL E G H83674790OMIM:619950
HP:0020049HP:0031721Sensory exotropia2KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0020049HP:0031713Constant exotropia2NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0020049HP:0032010Basic constant exotropia3 CL E G H
HP:0020049HP:0031720Simulated distance exotropia3 CL E G H
HP:0020049HP:0031719True distance exotropia3 CL E G H
HP:0020049HP:0032009Infantile constant exotropia3NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10


Genes (107) :ACADSB ADARB1 ADD3 ADGRG1 ADNP AFF4 ALDH3A2 ARPC4 ATP13A2 ATP1A2 ATP1A3 ATRX BCOR BCORL1 BLOC1S3 CACNA1A CACNA1F CDC42 CDH11 COL4A1 CRB1 CRIPT DNMBP DPAGT1 DYRK1A EFNB1 EXOC8 FBN1 FBXW11 FGF10 FGFR2 FGFR3 GALNT2 GJA5 GJA8 GMPPA GNB1 GNB2 GRIA1 H4C5 HACE1 HADHA HMX1 HNRNPH2 HPDL KDM1A KDM6B KIF21A LCA5 LRAT LYRM7 MADD MC1R MRPS2 MRPS34 MTRFR MYF5 NGLY1 NMNAT1 NONO NR2F1 OCA2 P4HTM PAX6 PCDHGC4 PHOX2A POGZ POLRMT PRPS1 PRR12 PTRH2 PUF60 PYROXD1 RERE RNF2 RP1L1 RPE65 RPL10 SALL2 SCO2 SIAH1 SLC17A5 SLC1A3 SLC25A46 SLC35A2 SLC6A8 SMAD3 SNRPN SON SOX5 SPATA5 SPATA7 TAF2 TBX1 TGFBR1 TGFBR2 THOC2 TMEM231 TMEM67 TRAPPC11 TUBB3 TYR UBE3A UFSP2 WARS2 WT1 ZC4H2

Diseases (103) :OMIM:610006 OMIM:618862 OMIM:617008 OMIM:606854 ORPHA:404448 ORPHA:444077 OMIM:270200 OMIM:620141 OMIM:617225 ORPHA:2131 OMIM:619606 OMIM:309580 OMIM:300166 OMIM:301029 OMIM:614077 OMIM:300071 ORPHA:487796 OMIM:616737 OMIM:211380 OMIM:175780 OMIM:600105 OMIM:615789 OMIM:618415 OMIM:608093 ORPHA:86309 ORPHA:464311 OMIM:304110 OMIM:619076 OMIM:154700 OMIM:618914 ORPHA:2363 OMIM:616482 OMIM:618885 OMIM:612474 OMIM:615510 OMIM:616973 OMIM:619503 OMIM:619931 OMIM:619950 ORPHA:464282 ORPHA:5 OMIM:612109 OMIM:300986 OMIM:619026 OMIM:616728 ORPHA:477993 OMIM:618505 OMIM:135700 ORPHA:364055 OMIM:615838 OMIM:619005 OMIM:203200 OMIM:617950 OMIM:617664 ORPHA:254930 OMIM:618155 ORPHA:404454 OMIM:619260 ORPHA:466791 ORPHA:401777 OMIM:618493 OMIM:106210 OMIM:619880 OMIM:602078 OMIM:616364 OMIM:619743 ORPHA:423479 OMIM:619539 ORPHA:456312 OMIM:616263 ORPHA:508488 OMIM:617258 ORPHA:494344 OMIM:619460 OMIM:618826 ORPHA:459070 OMIM:216820 ORPHA:521411 OMIM:604377 OMIM:619314 OMIM:604369 OMIM:616505 ORPHA:356961 OMIM:300352 OMIM:613795 OMIM:105830 ORPHA:500150 ORPHA:313892 ORPHA:457351 ORPHA:397951 OMIM:188400 OMIM:609192 OMIM:610168 OMIM:300957 ORPHA:2752 OMIM:602152 ORPHA:369840 OMIM:600638 OMIM:203100 OMIM:620028 OMIM:617710 ORPHA:572798 OMIM:314580
 

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