Human Phenotype Ontology 
Grandparent Node:
expand
Strabismus (HP:0000486)help
Parent Node:
expand
Exodeviation (HP:0020049)help
..Starting node
..expand
Exotropia (HP:0000577)help
Term ID: 577
Name: Exotropia
Synonym: Outward facing eye ball
Definition: A form of strabismus with one or both eyes deviated outward.
Comments:
Reference: HP:0000577
Genes and Diseases:
 
       Child Nodes:
........expandCongenital exotropia (HP:0008033) help
........expandConstant exotropia (HP:0031713) help
........expandDistance exotropia (HP:0031714) help
................... HP:0031719 True distance exotropia
................... HP:0031720 Simulated distance exotropia
........expandNear exotropia (HP:0031715) help
........expandCyclic exotropia (HP:0031716) help
........expandAlternating exotropia (HP:0031717) help
........expandConsecutive exotropia (HP:0031718) help
........expandSensory exotropia (HP:0031721) help

 Sister Nodes: 
..expandExophoria (HP:0025313) 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:0000577HP:0000577Exotropia0ACADSB CL E G H3691OMIM:6100062-Methylbutyryl-Coa dehydrogenase deficiency.111
HP:0000577HP:0000577Exotropia0ADARB1 CL E G H104226OMIM:618862NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS1
HP:0000577HP:0000577Exotropia0ADD3 CL E G H120245OMIM:617008Cerebral palsy, spastic quadriplegic, 33
HP:0000577HP:0000577Exotropia0ADGRG1 CL E G H92894512OMIM:606854Polymicrogyria, bilateral frontoparietal.88
HP:0000577HP:0000577Exotropia0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0000577HP:0000577Exotropia0ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0000577HP:0000577Exotropia0ARPC4 CL E G H10093707OMIM:620141
HP:0000577HP:0000577Exotropia0ATP1A2 CL E G H477800ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent239
HP:0000577HP:0000577Exotropia0ATP1A3 CL E G H478801ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent150
HP:0000577HP:0000577Exotropia0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000577HP:0000577Exotropia0BCOR CL E G H5488020893OMIM:300166Microphthalmia, syndromic 2.101
HP:0000577HP:0000577Exotropia0BCORL1 CL E G H6303525657OMIM:301029Shukla-Vernon syndrome.17
HP:0000577HP:0000577Exotropia0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0000577HP:0000577Exotropia0CACNA1A CL E G H7731388ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent449
HP:0000577HP:0000577Exotropia0CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0000577HP:0000577Exotropia0CDC42 CL E G H9981736ORPHA:487796Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndromeHP:0040283 - Occasional6
HP:0000577HP:0000577Exotropia0CDC42 CL E G H9981736OMIM:616737Takenouchi-Kosaki syndrome6
HP:0000577HP:0000577Exotropia0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0000577HP:0000577Exotropia0CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0000577HP:0000577Exotropia0CRIPT CL E G H941914312OMIM:615789Short stature with microcephaly and distinctive facies.4
HP:0000577HP:0000577Exotropia0DNMBP CL E G H2326830373OMIM:618415Cataract 48.
HP:0000577HP:0000577Exotropia0DPAGT1 CL E G H17982995OMIM:608093Congenital disorder of glycosylation, type Ij.38
HP:0000577HP:0000577Exotropia0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040283 - Occasional38
HP:0000577HP:0000577Exotropia0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0000577HP:0000577Exotropia0EFNB1 CL E G H19473226OMIM:304110Craniofrontonasal syndrome.27
HP:0000577HP:0000577Exotropia0EXOC8 CL E G H14937124659OMIM:619076NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY; NEDMISB1
HP:0000577HP:0000577Exotropia0FBN1 CL E G H22003603OMIM:154700Marfan syndrome1361
HP:0000577HP:0000577Exotropia0FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000577HP:0000577Exotropia0FGF10 CL E G H22553666ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare17
HP:0000577HP:0000577Exotropia0FGFR2 CL E G H22633689ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare175
HP:0000577HP:0000577Exotropia0FGFR3 CL E G H22613690OMIM:616482Achondroplasia, severe, with developmental delay and acanthosis nigricansHP:0040283 - Occasional145
HP:0000577HP:0000577Exotropia0FGFR3 CL E G H22613690ORPHA:2363Lacrimoauriculodentodigital syndromeHP:0040284 - Very rare145
HP:0000577HP:0000577Exotropia0GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000577HP:0000577Exotropia0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000577HP:0000577Exotropia0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000577HP:0000577Exotropia0H4C5 CL E G H83674790OMIM:619950
HP:0000577HP:0000577Exotropia0HADHA CL E G H30304801ORPHA:5Long chain 3-hydroxyacyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent99
HP:0000577HP:0000577Exotropia0HNRNPH2 CL E G H31885042OMIM:300986MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB3
HP:0000577HP:0000577Exotropia0KDM1A CL E G H2302829079OMIM:616728Cleft palate, psychomotor retardation, and distinctive facial features3
HP:0000577HP:0000577Exotropia0KDM1A CL E G H2302829079ORPHA:477993Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndromeHP:0040282 - Frequent3
HP:0000577HP:0000577Exotropia0KDM6B CL E G H2313529012OMIM:618505Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities.9
HP:0000577HP:0000577Exotropia0KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0000577HP:0000577Exotropia0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional70
HP:0000577HP:0000577Exotropia0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional62
HP:0000577HP:0000577Exotropia0LYRM7 CL E G H9062428072OMIM:615838Mitochondrial complex III deficiency, nuclear type 8.10
HP:0000577HP:0000577Exotropia0MADD CL E G H85676766OMIM:619005NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH5
HP:0000577HP:0000577Exotropia0MC1R CL E G H41576929OMIM:203200Albinism, oculocutaneous, type II.124
HP:0000577HP:0000577Exotropia0MRPS34 CL E G H6599316618OMIM:617664Combined oxidative phosphorylation deficiency 32.1
HP:0000577HP:0000577Exotropia0MYF5 CL E G H46177565OMIM:618155Ophthalmoplegia, external, with rib and vertebral anomalies.
HP:0000577HP:0000577Exotropia0NGLY1 CL E G H5576817646ORPHA:404454Alacrimia-choreoathetosis-liver dysfunction syndromeHP:0040284 - Very rare32
HP:0000577HP:0000577Exotropia0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000577HP:0000577Exotropia0NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0000577HP:0000577Exotropia0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0000577HP:0000577Exotropia0OCA2 CL E G H49488101OMIM:203200Albinism, oculocutaneous, type II.121
HP:0000577HP:0000577Exotropia0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000577HP:0000577Exotropia0PAX6 CL E G H50808620OMIM:106210Aniridia194
HP:0000577HP:0000577Exotropia0PCDHGC4 CL E G H560988717OMIM:619880
HP:0000577HP:0000577Exotropia0PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 2.6
HP:0000577HP:0000577Exotropia0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome35
HP:0000577HP:0000577Exotropia0POLRMT CL E G H54429200OMIM:619743COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD551
HP:0000577HP:0000577Exotropia0PRPS1 CL E G H56319462ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndromeHP:0040282 - Frequent49
HP:0000577HP:0000577Exotropia0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000577HP:0000577Exotropia0PTRH2 CL E G H5165124265ORPHA:456312Infantile multisystem neurologic-endocrine-pancreatic diseaseHP:0040282 - Frequent6
HP:0000577HP:0000577Exotropia0PTRH2 CL E G H5165124265OMIM:616263Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset.6
HP:0000577HP:0000577Exotropia0PUF60 CL E G H2282717042ORPHA:5084888q24.3 microdeletion syndromeHP:0040283 - Occasional19
HP:0000577HP:0000577Exotropia0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0000577HP:0000577Exotropia0RERE CL E G H4739965ORPHA:494344RERE-related neurodevelopmental syndromeHP:0040283 - Occasional16
HP:0000577HP:0000577Exotropia0RNF2 CL E G H604510061OMIM:619460LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0000577HP:0000577Exotropia0RP1L1 CL E G H9413715946OMIM:618826RETINITIS PIGMENTOSA 88; RP88284
HP:0000577HP:0000577Exotropia0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional129
HP:0000577HP:0000577Exotropia0RPL10 CL E G H613410298ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndromeHP:0040283 - Occasional10
HP:0000577HP:0000577Exotropia0SALL2 CL E G H629710526OMIM:216820COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE1
HP:0000577HP:0000577Exotropia0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0000577HP:0000577Exotropia0SCO2 CL E G H999710604OMIM:604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 140
HP:0000577HP:0000577Exotropia0SIAH1 CL E G H647710857OMIM:619314BURATTI-HAREL SYNDROME; BURHAS
HP:0000577HP:0000577Exotropia0SLC17A5 CL E G H2650310933OMIM:604369Salla disease.78
HP:0000577HP:0000577Exotropia0SLC1A3 CL E G H650710941ORPHA:2131Alternating hemiplegia of childhoodHP:0040282 - Frequent63
HP:0000577HP:0000577Exotropia0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB.14
HP:0000577HP:0000577Exotropia0SLC35A2 CL E G H735511022ORPHA:356961SLC35A2-CDGHP:0040283 - Occasional27
HP:0000577HP:0000577Exotropia0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0000577HP:0000577Exotropia0SMAD3 CL E G H40886769OMIM:613795LOEYS-DIETZ SYNDROME 3; LDS3260
HP:0000577HP:0000577Exotropia0SNRPN CL E G H663811164OMIM:105830Angelman syndrome.37
HP:0000577HP:0000577Exotropia0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000577HP:0000577Exotropia0SOX5 CL E G H666011201ORPHA:313892Developmental and speech delay due to SOX5 deficiencyHP:0040282 - Frequent11
HP:0000577HP:0000577Exotropia0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040283 - Occasional48
HP:0000577HP:0000577Exotropia0TAF2 CL E G H687311536ORPHA:397951Microcephaly-thin corpus callosum-intellectual disability syndromeHP:0040283 - Occasional7
HP:0000577HP:0000577Exotropia0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000577HP:0000577Exotropia0TGFBR1 CL E G H704611772OMIM:609192Loeys-Dietz syndrome 1239
HP:0000577HP:0000577Exotropia0TGFBR2 CL E G H704811773OMIM:610168Loeys-Dietz syndrome 2253
HP:0000577HP:0000577Exotropia0THOC2 CL E G H5718719073OMIM:300957Mental retardation, X-linked 12/355
HP:0000577HP:0000577Exotropia0TMEM231 CL E G H7958337234ORPHA:2752Orofaciodigital syndrome type 3HP:0040282 - Frequent33
HP:0000577HP:0000577Exotropia0TMEM67 CL E G H9114728396OMIM:602152Rhyns syndrome.166
HP:0000577HP:0000577Exotropia0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement.64
HP:0000577HP:0000577Exotropia0TYR CL E G H729912442OMIM:203100Albinism, oculocutaneous, type IA.146
HP:0000577HP:0000577Exotropia0UBE3A CL E G H733712496OMIM:105830Angelman syndrome.278
HP:0000577HP:0000577Exotropia0UFSP2 CL E G H5532525640OMIM:6200282
HP:0000577HP:0000577Exotropia0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0000577HP:0000577Exotropia0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0000577HP:0000577Exotropia0WT1 CL E G H749012796OMIM:106210Aniridia177
HP:0000577HP:0000577Exotropia0ZC4H2 CL E G H5590624931OMIM:314580Wieacker-Wolff syndrome.19
HP:0000577HP:0031714Distance exotropia1 CL E G H
HP:0000577HP:0031718Consecutive exotropia1 CL E G H
HP:0000577HP:0031716Cyclic exotropia1 CL E G H
HP:0000577HP:0031715Near exotropia1 CL E G H
HP:0000577HP:0031717Alternating exotropia1ALDH3A2 CL E G H224403OMIM:270200Sjogren-Larsson syndrome87
HP:0000577HP:0031717Alternating exotropia1FBXW11 CL E G H2329113607OMIM:618914NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0000577HP:0031717Alternating exotropia1GALNT2 CL E G H25904124OMIM:618885CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt; CDG2T
HP:0000577HP:0031717Alternating exotropia1H4C5 CL E G H83674790OMIM:619950
HP:0000577HP:0031721Sensory exotropia1KIF21A CL E G H5560519349OMIM:135700Fibrosis of extraocular muscles, congenital, 1.93
HP:0000577HP:0031713Constant exotropia1NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndrome10
HP:0000577HP:0032010Basic constant exotropia2 CL E G H
HP:0000577HP:0031720Simulated distance exotropia2 CL E G H
HP:0000577HP:0031719True distance exotropia2 CL E G H
HP:0000577HP:0032009Infantile constant exotropia2NONO CL E G H48417871ORPHA:466791Macrocephaly-intellectual disability-left ventricular non compaction syndromeHP:0040283 - Occasional10


Genes (93) :ACADSB ADARB1 ADD3 ADGRG1 ADNP ALDH3A2 ARPC4 ATP1A2 ATP1A3 ATRX BCOR BCORL1 BLOC1S3 CACNA1A CACNA1F CDC42 COL4A1 CRB1 CRIPT DNMBP DPAGT1 DYRK1A EFNB1 EXOC8 FBN1 FBXW11 FGF10 FGFR2 FGFR3 GALNT2 GNB1 GNB2 H4C5 HADHA HNRNPH2 KDM1A KDM6B KIF21A LCA5 LRAT LYRM7 MADD MC1R MRPS34 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 SPATA7 TAF2 TBX1 TGFBR1 TGFBR2 THOC2 TMEM231 TMEM67 TUBB3 TYR UBE3A UFSP2 WARS2 WT1 ZC4H2

Diseases (89) :OMIM:610006 OMIM:618862 OMIM:617008 OMIM:606854 ORPHA:404448 OMIM:270200 OMIM:620141 ORPHA:2131 OMIM:309580 OMIM:300166 OMIM:301029 OMIM:614077 OMIM:300071 ORPHA:487796 OMIM:616737 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:616973 OMIM:619503 OMIM:619950 ORPHA:5 OMIM:300986 OMIM:616728 ORPHA:477993 OMIM:618505 OMIM:135700 ORPHA:364055 OMIM:615838 OMIM:619005 OMIM:203200 OMIM:617664 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:397951 OMIM:188400 OMIM:609192 OMIM:610168 OMIM:300957 ORPHA:2752 OMIM:602152 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.