Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000646 | HP:0000646 | Amblyopia | 0 | ACVRL1 CL E G H | 94 | 175 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 178 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | ADAMTSL4 CL E G H | 54507 | 19706 | ORPHA:1885 | Isolated ectopia lentis | HP:0040283 - Occasional | | | 84 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | ADNP CL E G H | 23394 | 15766 | ORPHA:404448 | ADNP syndrome | HP:0040284 - Very rare | | | 47 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | AFF4 CL E G H | 27125 | 17869 | ORPHA:444077 | Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | AP1G1 CL E G H | 164 | 555 | OMIM:619467 | USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT; USRISD | | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | AP4B1 CL E G H | 10717 | 572 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040284 - Very rare | | | 49 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | AP4E1 CL E G H | 23431 | 573 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040284 - Very rare | | | 48 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | AP4M1 CL E G H | 9179 | 574 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040284 - Very rare | | | 41 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | AP4S1 CL E G H | 11154 | 575 | ORPHA:280763 | Severe intellectual disability and progressive spastic paraplegia | HP:0040284 - Very rare | | | 18 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | . | | | 1 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | ATOH7 CL E G H | 220202 | 13907 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 4 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | B3GAT3 CL E G H | 26229 | 923 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 5 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | C1QBP CL E G H | 708 | 1243 | OMIM:617713 | Combined oxidative phosphorylation deficiency 33 | . | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | CBS CL E G H | 875 | 1550 | ORPHA:394 | Classic homocystinuria | HP:0040282 - Frequent | | | 242 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | CHN1 CL E G H | 1123 | 1943 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 35 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | CHN1 CL E G H | 1123 | 1943 | OMIM:604356 | DUANE RETRACTION SYNDROME 2; DURS2 | | | | 35 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | CHST3 CL E G H | 9469 | 1971 | OMIM:245600 | Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects | . | | | 165 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | CLCN6 CL E G H | 1185 | 2024 | OMIM:619173 | NEURODEGENERATION, CHILDHOOD-ONSET, WITH HYPOTONIA, RESPIRATORY INSUFFICIENCY, AND BRAIN IMAGING ABNORMALITIES; CONRIBA | | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | CLN3 CL E G H | 1201 | 2074 | ORPHA:228346 | CLN3 disease | | | | 216 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | COL25A1 CL E G H | 84570 | 18603 | ORPHA:91411 | Congenital ptosis | | | | 3 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | COL8A2 CL E G H | 1296 | 2216 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 3 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | COX7B CL E G H | 1349 | 2291 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | CRYAA CL E G H | 1409 | 2388 | OMIM:604219 | Cataract 9, multiple types | . | | | 33 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | CRYBB1 CL E G H | 1414 | 2397 | OMIM:611544 | Cataract 17, multiple types | HP:0040283 - Occasional | | | 18 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | CRYGC CL E G H | 1420 | 2410 | OMIM:604307 | Cataract 2, multiple types | . | | | 11 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | DPP6 CL E G H | 1804 | 3010 | OMIM:616311 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 33; MRD33 | | | | 18 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | DYRK1A CL E G H | 1859 | 3091 | ORPHA:464311 | Intellectual disability syndrome due to a DYRK1A point mutation | HP:0040283 - Occasional | | | 134 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | ELP4 CL E G H | 26610 | 1171 | OMIM:617141 | Aniridia 2 | | | | 4 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | ENG CL E G H | 2022 | 3349 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 186 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | EPRS1 CL E G H | 2058 | 3418 | OMIM:617951 | Leukodystrophy, hypomyelinating, 15 | . | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | ERF CL E G H | 2077 | 3444 | ORPHA:207 | Crouzon disease | HP:0040283 - Occasional | | | 12 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | FBN1 CL E G H | 2200 | 3603 | ORPHA:1885 | Isolated ectopia lentis | HP:0040283 - Occasional | | | 1361 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:207 | Crouzon disease | HP:0040283 - Occasional | | | 175 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:93260 | Pfeiffer syndrome type 3 | HP:0040283 - Occasional | | | 175 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | FGFR2 CL E G H | 2263 | 3689 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 175 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:602849 | Muenke syndrome | | | | 145 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | FGFR3 CL E G H | 2261 | 3690 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | FLNA CL E G H | 2316 | 3754 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 493 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | FOXL2 CL E G H | 668 | 1092 | ORPHA:572333 | Blepharophimosis-ptosis-epicanthus inversus syndrome plus | HP:0040282 - Frequent | | | 92 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 109 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | GDF2 CL E G H | 2658 | 4217 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 8 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | GPR143 CL E G H | 4935 | 20145 | OMIM:300814 | Nystagmus 6, congenital, X-linked | . | | | 64 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | GRHL2 CL E G H | 79977 | 2799 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 33 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | H1-4 CL E G H | 3008 | 4718 | OMIM:617537 | Rahman syndrome | . | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | H4C3 CL E G H | 8364 | 4787 | OMIM:619758 | TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1 | | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | HCCS CL E G H | 3052 | 4837 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | HDAC4 CL E G H | 9759 | 14063 | OMIM:619797 | NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF | | | | 33 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | HPS6 CL E G H | 79803 | 18817 | OMIM:614075 | Hermansky-Pudlak syndrome 6 | | | | 45 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | KCNN2 CL E G H | 3781 | 6291 | OMIM:619724 | DYSTONIA 34, MYOCLONIC; DYT34 | | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | LAMA1 CL E G H | 284217 | 6481 | OMIM:615960 | Poretti-Boltshauser syndrome | . | | | 35 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | LIM2 CL E G H | 3982 | 6610 | OMIM:615277 | Cataract 19, multiple types | . | | | 16 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | LMBRD2 CL E G H | 92255 | 25287 | OMIM:619694 | DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA | | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | LOXL3 CL E G H | 84695 | 13869 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | MAFB CL E G H | 9935 | 6408 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 63 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | MAP3K7 CL E G H | 6885 | 6859 | ORPHA:1826 | Frontometaphyseal dysplasia | HP:0040283 - Occasional | | | 11 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | MED25 CL E G H | 81857 | 28845 | ORPHA:464738 | Basel-Vanagaite-Smirin-Yosef syndrome | HP:0040283 - Occasional | | | 43 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | MICU1 CL E G H | 10367 | 1530 | OMIM:615673 | Myopathy with extrapyramidal signs | | | | 14 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:91495 | Persistent hyperplastic primary vitreous | | | | 39 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | NDUFB11 CL E G H | 54539 | 20372 | ORPHA:2556 | Microphthalmia with linear skin defects syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | NF2 CL E G H | 4771 | 7773 | ORPHA:637 | Neurofibromatosis type 2 | HP:0040283 - Occasional | | | 220 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | NFIX CL E G H | 4784 | 7788 | ORPHA:447980 | 19p13.3 microduplication syndrome | HP:0040283 - Occasional | | | 40 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | NOG CL E G H | 9241 | 7866 | OMIM:186500 | Multiple synostoses syndrome 1 | | | | 22 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | NPHP4 CL E G H | 261734 | 19104 | OMIM:606996 | Senior-Loken syndrome 4 | . | | | 220 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | NR2F1 CL E G H | 7025 | 7975 | ORPHA:401777 | Optic atrophy-intellectual disability syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | OCRL CL E G H | 4952 | 8108 | ORPHA:534 | Oculocerebrorenal syndrome of Lowe | HP:0040281 - Very frequent | | | 88 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | OGT CL E G H | 8473 | 8127 | OMIM:300997 | Mental retardation, X-linked 106 | | | | 4 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | OVOL2 CL E G H | 58495 | 15804 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 4 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | P4HTM CL E G H | 54681 | 28858 | OMIM:618493 | Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities | . | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:35737 | Morning glory disc anomaly | HP:0040281 - Very frequent | | | 194 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | PDZD8 CL E G H | 118987 | 26974 | OMIM:620021 | | | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | PHOX2A CL E G H | 401 | 691 | OMIM:602078 | Fibrosis of extraocular muscles, congenital, 2 | . | | | 6 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | PIGN CL E G H | 23556 | 8967 | OMIM:614080 | Multiple congenital anomalies-hypotonia-seizures syndrome 1 | | | | 37 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | PITX2 CL E G H | 5308 | 9005 | OMIM:180550 | Ring dermoid of cornea | | | | 51 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | POLR3GL CL E G H | 84265 | 28466 | OMIM:619234 | SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY; SOFM | | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | PRR12 CL E G H | 57479 | 29217 | OMIM:619539 | NEUROOCULAR SYNDROME; NOC | | | | 1 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | PUF60 CL E G H | 22827 | 17042 | ORPHA:508498 | Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome | HP:0040283 - Occasional | | | 19 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | RIC1 CL E G H | 57589 | 17686 | OMIM:618761 | CATIFA SYNDROME; CATIFA | | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | RRAS2 CL E G H | 22800 | 17271 | OMIM:618624 | NOONAN SYNDROME 12; NS12 | | | | 1 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | SALL4 CL E G H | 57167 | 15924 | ORPHA:233 | Duane retraction syndrome | HP:0040283 - Occasional | | | 86 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | SCN8A CL E G H | 6334 | 10596 | OMIM:614306 | Cognitive impairment with or without cerebellar ataxia | HP:0040283 - Occasional | | | 357 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | SF3B2 CL E G H | 10992 | 10769 | OMIM:164210 | Hemifacial microsomia | | | | 2 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | SMAD4 CL E G H | 4089 | 6770 | ORPHA:774 | Hereditary hemorrhagic telangiectasia | HP:0040283 - Occasional | | | 504 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | SMARCA2 CL E G H | 6595 | 11098 | ORPHA:2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type | HP:0040281 - Very frequent | | | 146 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:2250 | Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome | HP:0040282 - Frequent | | | 174 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | SMO CL E G H | 6608 | 11119 | OMIM:601707 | Curry-Jones syndrome | | | | 22 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | SOBP CL E G H | 55084 | 29256 | OMIM:613671 | Mental retardation, anterior maxillary protrusion, and strabismus | HP:0040283 - Occasional | | | 29 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | TANGO2 CL E G H | 128989 | 25439 | ORPHA:480864 | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | TASP1 CL E G H | 55617 | 15859 | OMIM:618950 | SULEIMAN-EL-HATTAB SYNDROME; SULEHS | | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:188400 | Digeorge syndrome | . | | | 32 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | TFE3 CL E G H | 7030 | 11752 | OMIM:301066 | INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF | | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | TRIO CL E G H | 7204 | 12303 | ORPHA:476126 | Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | TUBB3 CL E G H | 10381 | 20772 | OMIM:600638 | Fibrosis of extraocular muscles, congenital, 3A, with or without extraocularinvolvement | . | | | 64 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | TWIST1 CL E G H | 7291 | 12428 | ORPHA:794 | Saethre-Chotzen syndrome | HP:0040283 - Occasional | | | 18 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | VSX1 CL E G H | 30813 | 12723 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 47 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | WAC CL E G H | 51322 | 17327 | ORPHA:284169 | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | HP:0040283 - Occasional | | | 20 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | WARS2 CL E G H | 10352 | 12730 | OMIM:617710 | Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures | . | | | 2 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | WDR26 CL E G H | 80232 | 21208 | ORPHA:513456 | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | WDR26 CL E G H | 80232 | 21208 | OMIM:617616 | Skraban-Deardorff syndrome | . | | | 8 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | XYLT2 CL E G H | 64132 | 15517 | OMIM:605822 | Spondyloocular syndrome | . | | | 5 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | YME1L1 CL E G H | 10730 | 12843 | OMIM:617302 | Optic atrophy 11 | . | | | 2 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | ZEB1 CL E G H | 6935 | 11642 | ORPHA:98973 | Posterior polymorphous corneal dystrophy | HP:0040283 - Occasional | | | 8 | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | ZFHX4 CL E G H | 79776 | 30939 | ORPHA:91411 | Congenital ptosis | | | | | | |
HP:0000646 | HP:0000646 | Amblyopia | 0 | ZMIZ1 CL E G H | 57178 | 16493 | OMIM:618659 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA | | | | | | |