Human Phenotype Ontology 
Grandparent Node:
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Abnormality of vision (HP:0000504)help
Parent Node:
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Reduced visual acuity (HP:0007663)help
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Amblyopia (HP:0000646)help
Term ID: 646
Name: Amblyopia
Synonym: Lazy eye; Wandering eye; Wandering eyes
Definition: Reduced visual acuity that is uncorrectable by lenses in the absence of detectable anatomic defects in the eye or visual pathways.
Comments:
Reference: HP:0000646
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandSudden loss of visual acuity (HP:0001117) help
..expandVisual acuity test abnormality (HP:0030532) 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:0000646HP:0000646Amblyopia0ACVRL1 CL E G H94175ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional178
HP:0000646HP:0000646Amblyopia0ADAMTSL4 CL E G H5450719706ORPHA:1885Isolated ectopia lentisHP:0040283 - Occasional84
HP:0000646HP:0000646Amblyopia0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040284 - Very rare47
HP:0000646HP:0000646Amblyopia0AFF4 CL E G H2712517869ORPHA:444077Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndromeHP:0040283 - Occasional6
HP:0000646HP:0000646Amblyopia0AP1G1 CL E G H164555OMIM:619467USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD
HP:0000646HP:0000646Amblyopia0AP4B1 CL E G H10717572ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040284 - Very rare49
HP:0000646HP:0000646Amblyopia0AP4E1 CL E G H23431573ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040284 - Very rare48
HP:0000646HP:0000646Amblyopia0AP4M1 CL E G H9179574ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040284 - Very rare41
HP:0000646HP:0000646Amblyopia0AP4S1 CL E G H11154575ORPHA:280763Severe intellectual disability and progressive spastic paraplegiaHP:0040284 - Very rare18
HP:0000646HP:0000646Amblyopia0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations.1
HP:0000646HP:0000646Amblyopia0ATOH7 CL E G H22020213907ORPHA:91495Persistent hyperplastic primary vitreous4
HP:0000646HP:0000646Amblyopia0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.5
HP:0000646HP:0000646Amblyopia0C1QBP CL E G H7081243OMIM:617713Combined oxidative phosphorylation deficiency 33.
HP:0000646HP:0000646Amblyopia0CBS CL E G H8751550ORPHA:394Classic homocystinuriaHP:0040282 - Frequent242
HP:0000646HP:0000646Amblyopia0CDC42BPB CL E G H95781738OMIM:619841
HP:0000646HP:0000646Amblyopia0CHN1 CL E G H11231943ORPHA:233Duane retraction syndromeHP:0040283 - Occasional35
HP:0000646HP:0000646Amblyopia0CHN1 CL E G H11231943OMIM:604356DUANE RETRACTION SYNDROME 2; DURS235
HP:0000646HP:0000646Amblyopia0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects.165
HP:0000646HP:0000646Amblyopia0CLCN6 CL E G H11852024OMIM:619173NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA
HP:0000646HP:0000646Amblyopia0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0000646HP:0000646Amblyopia0COL11A1 CL E G H13012186ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent215
HP:0000646HP:0000646Amblyopia0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040282 - Frequent215
HP:0000646HP:0000646Amblyopia0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000646HP:0000646Amblyopia0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomalies.193
HP:0000646HP:0000646Amblyopia0COL8A2 CL E G H12962216ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional3
HP:0000646HP:0000646Amblyopia0COL9A1 CL E G H12972217ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent110
HP:0000646HP:0000646Amblyopia0COL9A2 CL E G H12982218ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent110
HP:0000646HP:0000646Amblyopia0COL9A3 CL E G H12992219ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent137
HP:0000646HP:0000646Amblyopia0COX7B CL E G H13492291ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional6
HP:0000646HP:0000646Amblyopia0CRYAA CL E G H14092388OMIM:604219Cataract 9, multiple types.33
HP:0000646HP:0000646Amblyopia0CRYBB1 CL E G H14142397OMIM:611544Cataract 17, multiple typesHP:0040283 - Occasional18
HP:0000646HP:0000646Amblyopia0CRYGC CL E G H14202410OMIM:604307Cataract 2, multiple types.11
HP:0000646HP:0000646Amblyopia0DPP6 CL E G H18043010OMIM:616311MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD3318
HP:0000646HP:0000646Amblyopia0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0000646HP:0000646Amblyopia0ELN CL E G H20063327OMIM:194050Williams-Beuren syndrome172
HP:0000646HP:0000646Amblyopia0ELP4 CL E G H266101171OMIM:617141Aniridia 24
HP:0000646HP:0000646Amblyopia0ENG CL E G H20223349ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional186
HP:0000646HP:0000646Amblyopia0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0000646HP:0000646Amblyopia0ERF CL E G H20773444ORPHA:207Crouzon diseaseHP:0040283 - Occasional12
HP:0000646HP:0000646Amblyopia0FBN1 CL E G H22003603ORPHA:1885Isolated ectopia lentisHP:0040283 - Occasional1361
HP:0000646HP:0000646Amblyopia0FGFR2 CL E G H22633689ORPHA:207Crouzon diseaseHP:0040283 - Occasional175
HP:0000646HP:0000646Amblyopia0FGFR2 CL E G H22633689ORPHA:93260Pfeiffer syndrome type 3HP:0040283 - Occasional175
HP:0000646HP:0000646Amblyopia0FGFR2 CL E G H22633689ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional175
HP:0000646HP:0000646Amblyopia0FGFR3 CL E G H22613690OMIM:602849Muenke syndrome145
HP:0000646HP:0000646Amblyopia0FGFR3 CL E G H22613690ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional145
HP:0000646HP:0000646Amblyopia0FLNA CL E G H23163754ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional493
HP:0000646HP:0000646Amblyopia0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040282 - Frequent92
HP:0000646HP:0000646Amblyopia0FZD4 CL E G H83224042ORPHA:91495Persistent hyperplastic primary vitreous109
HP:0000646HP:0000646Amblyopia0GDF2 CL E G H26584217ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional8
HP:0000646HP:0000646Amblyopia0GPR143 CL E G H493520145OMIM:300814Nystagmus 6, congenital, X-linked.64
HP:0000646HP:0000646Amblyopia0GRHL2 CL E G H799772799ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional33
HP:0000646HP:0000646Amblyopia0H1-4 CL E G H30084718OMIM:617537Rahman syndrome.
HP:0000646HP:0000646Amblyopia0H4C3 CL E G H83644787OMIM:619758TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0000646HP:0000646Amblyopia0HCCS CL E G H30524837ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional11
HP:0000646HP:0000646Amblyopia0HDAC4 CL E G H975914063OMIM:619797NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF33
HP:0000646HP:0000646Amblyopia0HPS6 CL E G H7980318817OMIM:614075Hermansky-Pudlak syndrome 645
HP:0000646HP:0000646Amblyopia0KAT6A CL E G H799413013OMIM:616268Arboleda-Tham syndrome34
HP:0000646HP:0000646Amblyopia0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0000646HP:0000646Amblyopia0KIF11 CL E G H38326388ORPHA:2526Microcephaly-lymphedema-chorioretinopathy syndromeHP:0040283 - Occasional46
HP:0000646HP:0000646Amblyopia0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040282 - Frequent35
HP:0000646HP:0000646Amblyopia0LAMA1 CL E G H2842176481OMIM:615960Poretti-Boltshauser syndrome.35
HP:0000646HP:0000646Amblyopia0LIM2 CL E G H39826610OMIM:615277Cataract 19, multiple types.16
HP:0000646HP:0000646Amblyopia0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000646HP:0000646Amblyopia0LOXL3 CL E G H8469513869ORPHA:250984Autosomal recessive Stickler syndromeHP:0040282 - Frequent4
HP:0000646HP:0000646Amblyopia0MAFB CL E G H99356408ORPHA:233Duane retraction syndromeHP:0040283 - Occasional63
HP:0000646HP:0000646Amblyopia0MAP3K7 CL E G H68856859ORPHA:1826Frontometaphyseal dysplasiaHP:0040283 - Occasional11
HP:0000646HP:0000646Amblyopia0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0000646HP:0000646Amblyopia0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0000646HP:0000646Amblyopia0MLXIPL CL E G H5108512744OMIM:194050Williams-Beuren syndrome1
HP:0000646HP:0000646Amblyopia0NDP CL E G H46937678ORPHA:91495Persistent hyperplastic primary vitreous39
HP:0000646HP:0000646Amblyopia0NDUFB11 CL E G H5453920372ORPHA:2556Microphthalmia with linear skin defects syndromeHP:0040283 - Occasional3
HP:0000646HP:0000646Amblyopia0NF2 CL E G H47717773ORPHA:637Neurofibromatosis type 2HP:0040283 - Occasional220
HP:0000646HP:0000646Amblyopia0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0000646HP:0000646Amblyopia0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0000646HP:0000646Amblyopia0NPHP4 CL E G H26173419104OMIM:606996Senior-Loken syndrome 4.220
HP:0000646HP:0000646Amblyopia0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040283 - Occasional37
HP:0000646HP:0000646Amblyopia0OCRL CL E G H49528108ORPHA:534Oculocerebrorenal syndrome of LoweHP:0040281 - Very frequent88
HP:0000646HP:0000646Amblyopia0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0000646HP:0000646Amblyopia0OVOL2 CL E G H5849515804ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional4
HP:0000646HP:0000646Amblyopia0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities.
HP:0000646HP:0000646Amblyopia0PAX6 CL E G H50808620ORPHA:35737Morning glory disc anomalyHP:0040281 - Very frequent194
HP:0000646HP:0000646Amblyopia0PDZD8 CL E G H11898726974OMIM:620021
HP:0000646HP:0000646Amblyopia0PHOX2A CL E G H401691OMIM:602078Fibrosis of extraocular muscles, congenital, 2.6
HP:0000646HP:0000646Amblyopia0PIGN CL E G H235568967ORPHA:280633Multiple congenital anomalies-hypotonia-seizures syndromeHP:0040283 - Occasional37
HP:0000646HP:0000646Amblyopia0PIGN CL E G H235568967OMIM:614080Multiple congenital anomalies-hypotonia-seizures syndrome 137
HP:0000646HP:0000646Amblyopia0PITX2 CL E G H53089005OMIM:180550Ring dermoid of cornea51
HP:0000646HP:0000646Amblyopia0POLR3GL CL E G H8426528466OMIM:619234SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM
HP:0000646HP:0000646Amblyopia0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000646HP:0000646Amblyopia0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000646HP:0000646Amblyopia0RIC1 CL E G H5758917686OMIM:618761CATIFA SYNDROME; CATIFA
HP:0000646HP:0000646Amblyopia0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0000646HP:0000646Amblyopia0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0000646HP:0000646Amblyopia0SALL4 CL E G H5716715924ORPHA:233Duane retraction syndromeHP:0040283 - Occasional86
HP:0000646HP:0000646Amblyopia0SCN8A CL E G H633410596OMIM:614306Cognitive impairment with or without cerebellar ataxiaHP:0040283 - Occasional357
HP:0000646HP:0000646Amblyopia0SF3B2 CL E G H1099210769OMIM:164210Hemifacial microsomia2
HP:0000646HP:0000646Amblyopia0SMAD4 CL E G H40896770ORPHA:774Hereditary hemorrhagic telangiectasiaHP:0040283 - Occasional504
HP:0000646HP:0000646Amblyopia0SMARCA2 CL E G H659511098ORPHA:2728Blepharophimosis-intellectual disability syndrome, Ohdo typeHP:0040281 - Very frequent146
HP:0000646HP:0000646Amblyopia0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040282 - Frequent174
HP:0000646HP:0000646Amblyopia0SMO CL E G H660811119OMIM:601707Curry-Jones syndrome22
HP:0000646HP:0000646Amblyopia0SOBP CL E G H5508429256OMIM:613671Mental retardation, anterior maxillary protrusion, and strabismusHP:0040283 - Occasional29
HP:0000646HP:0000646Amblyopia0TANGO2 CL E G H12898925439ORPHA:480864Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000646HP:0000646Amblyopia0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000646HP:0000646Amblyopia0TBX1 CL E G H689911592OMIM:188400Digeorge syndrome.32
HP:0000646HP:0000646Amblyopia0TFE3 CL E G H703011752OMIM:301066INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0000646HP:0000646Amblyopia0TRIO CL E G H720412303ORPHA:476126Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndromeHP:0040283 - Occasional8
HP:0000646HP:0000646Amblyopia0TUBB3 CL E G H1038120772OMIM:600638Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement.64
HP:0000646HP:0000646Amblyopia0TWIST1 CL E G H729112428ORPHA:794Saethre-Chotzen syndromeHP:0040283 - Occasional18
HP:0000646HP:0000646Amblyopia0VSX1 CL E G H3081312723ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional47
HP:0000646HP:0000646Amblyopia0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0000646HP:0000646Amblyopia0WARS2 CL E G H1035212730OMIM:617710Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures.2
HP:0000646HP:0000646Amblyopia0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0000646HP:0000646Amblyopia0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0000646HP:0000646Amblyopia0WDR26 CL E G H8023221208OMIM:617616Skraban-Deardorff syndrome.8
HP:0000646HP:0000646Amblyopia0XYLT2 CL E G H6413215517OMIM:605822Spondyloocular syndrome.5
HP:0000646HP:0000646Amblyopia0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0000646HP:0000646Amblyopia0ZEB1 CL E G H693511642ORPHA:98973Posterior polymorphous corneal dystrophyHP:0040283 - Occasional8
HP:0000646HP:0000646Amblyopia0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000646HP:0000646Amblyopia0ZMIZ1 CL E G H5717816493OMIM:618659NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA


Genes (109) :ACVRL1 ADAMTSL4 ADNP AFF4 AP1G1 AP4B1 AP4E1 AP4M1 AP4S1 ARHGEF2 ATOH7 B3GAT3 C1QBP CBS CDC42BPB CHN1 CHST3 CLCN6 CLN3 COL11A1 COL25A1 COL4A1 COL8A2 COL9A1 COL9A2 COL9A3 COX7B CRYAA CRYBB1 CRYGC DPP6 DYRK1A ELN ELP4 ENG EPRS1 ERF FBN1 FGFR2 FGFR3 FLNA FOXL2 FZD4 GDF2 GPR143 GRHL2 H1-4 H4C3 HCCS HDAC4 HPS6 KAT6A KCNN2 KIF11 LAMA1 LIM2 LMBRD2 LOXL3 MAFB MAP3K7 MED25 MICU1 MLXIPL NDP NDUFB11 NF2 NFIX NOG NPHP4 NR2F1 OCRL OGT OVOL2 P4HTM PAX6 PDZD8 PHOX2A PIGN PITX2 POLR3GL PRR12 PUF60 RIC1 RORA RRAS2 SALL4 SCN8A SF3B2 SMAD4 SMARCA2 SMCHD1 SMO SOBP TANGO2 TASP1 TBX1 TFE3 TRIO TUBB3 TWIST1 VSX1 WAC WARS2 WDR26 XYLT2 YME1L1 ZEB1 ZFHX4 ZMIZ1

Diseases (90) :ORPHA:774 ORPHA:1885 ORPHA:404448 ORPHA:444077 OMIM:619467 ORPHA:280763 OMIM:617523 ORPHA:91495 OMIM:245600 OMIM:617713 ORPHA:394 OMIM:619841 ORPHA:233 OMIM:604356 OMIM:619173 ORPHA:228346 ORPHA:250984 ORPHA:560 ORPHA:91411 OMIM:175780 ORPHA:98973 ORPHA:2556 OMIM:604219 OMIM:611544 OMIM:604307 OMIM:616311 ORPHA:464311 OMIM:194050 OMIM:617141 OMIM:617951 ORPHA:207 ORPHA:93260 ORPHA:794 OMIM:602849 ORPHA:1826 ORPHA:572333 OMIM:300814 OMIM:617537 OMIM:619758 OMIM:619797 OMIM:614075 OMIM:616268 OMIM:619724 ORPHA:2526 ORPHA:370022 OMIM:615960 OMIM:615277 OMIM:619694 ORPHA:464738 OMIM:615673 ORPHA:637 ORPHA:447980 OMIM:186500 OMIM:606996 ORPHA:401777 ORPHA:534 OMIM:300997 OMIM:618493 ORPHA:35737 OMIM:620021 OMIM:602078 ORPHA:280633 OMIM:614080 OMIM:180550 OMIM:619234 OMIM:619539 ORPHA:508498 OMIM:618761 OMIM:618060 OMIM:618624 OMIM:614306 OMIM:164210 ORPHA:2728 ORPHA:2250 OMIM:601707 OMIM:613671 ORPHA:480864 OMIM:618950 OMIM:188400 OMIM:301066 ORPHA:476126 OMIM:600638 ORPHA:284169 OMIM:617710 ORPHA:572798 ORPHA:513456 OMIM:617616 OMIM:605822 OMIM:617302 OMIM:618659
 

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