Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of refraction (HP:0000539)help
..Starting node
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Hypermetropia (HP:0000540)help
Term ID: 540
Name: Hypermetropia
Synonym: Farsightedness; Hyperopia; Long-sightedness
Definition: An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
Comments:
Reference: HP:0000540
Genes and Diseases:
 
       Child Nodes:
........expandHigh hypermetropia (HP:0008499) help
................... HP:0500042 Latent hypermetropia
........expandMild hypermetropia (HP:0031728) help
........expandModerate hypermetropia (HP:0031729) help

 Sister Nodes: 
..expandAnisometropia (HP:0012803) help
..expandAstigmatism (HP:0000483) help
..expandMyopia (HP:0000545) 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:0000540HP:0000540Hypermetropia0ADGRL1 CL E G H2285920973OMIM:620065
HP:0000540HP:0000540Hypermetropia0ADNP CL E G H2339415766ORPHA:404448ADNP syndromeHP:0040283 - Occasional47
HP:0000540HP:0000540Hypermetropia0ADNP CL E G H2339415766OMIM:615873Helsmoortel-van der Aa syndrome.47
HP:0000540HP:0000540Hypermetropia0ALDH1A3 CL E G H220409ORPHA:35612Nanophthalmos10
HP:0000540HP:0000540Hypermetropia0APC2 CL E G H1029724036ORPHA:821Sotos syndromeHP:0040284 - Very rare1
HP:0000540HP:0000540Hypermetropia0ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3
HP:0000540HP:0000540Hypermetropia0ASH1L CL E G H5587019088OMIM:617796Mental retardation, autosomal dominant 521
HP:0000540HP:0000540Hypermetropia0ASXL3 CL E G H8081629357OMIM:615485BAINBRIDGE-ROPERS SYNDROME; BRPS49
HP:0000540HP:0000540Hypermetropia0ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040282 - Frequent10
HP:0000540HP:0000540Hypermetropia0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0000540HP:0000540Hypermetropia0ATP6V1A CL E G H523851OMIM:618012Epileptic encephalopathy, infantile or early childhood, 3.3
HP:0000540HP:0000540Hypermetropia0B3GAT3 CL E G H26229923OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects5
HP:0000540HP:0000540Hypermetropia0B4GALT7 CL E G H11285930OMIM:130070Ehlers-Danlos syndrome, spondylodysplastic type, 129
HP:0000540HP:0000540Hypermetropia0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000540HP:0000540Hypermetropia0BCL11B CL E G H6491913222OMIM:618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES.3
HP:0000540HP:0000540Hypermetropia0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000540HP:0000540Hypermetropia0BEST1 CL E G H743912703OMIM:611809BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB182
HP:0000540HP:0000540Hypermetropia0BEST1 CL E G H743912703ORPHA:35612Nanophthalmos182
HP:0000540HP:0000540Hypermetropia0BICRA CL E G H299984332OMIM:619325COFFIN-SIRIS SYNDROME 12; CSS122
HP:0000540HP:0000540Hypermetropia0BLOC1S3 CL E G H38855220914OMIM:614077Hermansky-Pudlak syndrome 8.42
HP:0000540HP:0000540Hypermetropia0BLTP1 CL E G H8416226953OMIM:617822Alkuraya-Kucinskas syndrome.
HP:0000540HP:0000540Hypermetropia0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000540HP:0000540Hypermetropia0CABP4 CL E G H570101386ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional94
HP:0000540HP:0000540Hypermetropia0CACNA1F CL E G H7781393ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional58
HP:0000540HP:0000540Hypermetropia0CACNA1G CL E G H89131394OMIM:618087Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits.32
HP:0000540HP:0000540Hypermetropia0CACNA2D4 CL E G H9358920202ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional129
HP:0000540HP:0000540Hypermetropia0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndrome3
HP:0000540HP:0000540Hypermetropia0CCDC47 CL E G H5700324856OMIM:618268Trichohepatoneurodevelopmental syndrome.
HP:0000540HP:0000540Hypermetropia0CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1636
HP:0000540HP:0000540Hypermetropia0CENPT CL E G H8015225787OMIM:618702SHORT STATURE AND MICROCEPHALY WITH GENITAL ANOMALIES; SSMGA
HP:0000540HP:0000540Hypermetropia0CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 39
HP:0000540HP:0000540Hypermetropia0CHAMP1 CL E G H28348920311OMIM:616579Mental retardation, autosomal dominant 40.16
HP:0000540HP:0000540Hypermetropia0CHD3 CL E G H11071918OMIM:618205Snijders blok-campeau syndrome.2
HP:0000540HP:0000540Hypermetropia0CHMP1A CL E G H51198740OMIM:614961Pontocerebellar hypoplasia, type 8.19
HP:0000540HP:0000540Hypermetropia0CHST3 CL E G H94691971OMIM:245600Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects165
HP:0000540HP:0000540Hypermetropia0CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 115
HP:0000540HP:0000540Hypermetropia0CLCN3 CL E G H11822021OMIM:619512NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA2
HP:0000540HP:0000540Hypermetropia0CLDN11 CL E G H50108514OMIM:619328Leukodystrophy, hypomyelinating, 22
HP:0000540HP:0000540Hypermetropia0CLDN16 CL E G H106862037OMIM:248250Hypomagnesemia 3, renal.58
HP:0000540HP:0000540Hypermetropia0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000540HP:0000540Hypermetropia0CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 360
HP:0000540HP:0000540Hypermetropia0CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040282 - Frequent82
HP:0000540HP:0000540Hypermetropia0CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040282 - Frequent194
HP:0000540HP:0000540Hypermetropia0CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0000540HP:0000540Hypermetropia0CNOT3 CL E G H48497879OMIM:618672INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0000540HP:0000540Hypermetropia0COL11A2 CL E G H13022187ORPHA:1427Otospondylomegaepiphyseal dysplasiaHP:0040284 - Very rare222
HP:0000540HP:0000540Hypermetropia0COL25A1 CL E G H8457018603ORPHA:91411Congenital ptosis3
HP:0000540HP:0000540Hypermetropia0COL3A1 CL E G H12812201OMIM:618343Polymicrogyria with or without vascular-type ehlers-danlos syndrome.749
HP:0000540HP:0000540Hypermetropia0COL4A1 CL E G H12822202OMIM:175780Brain small vessel disease 1 with or without ocular anomaliesHP:0040284 - Very rare193
HP:0000540HP:0000540Hypermetropia0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8156
HP:0000540HP:0000540Hypermetropia0CRB1 CL E G H234182343ORPHA:35612Nanophthalmos156
HP:0000540HP:0000540Hypermetropia0CRB1 CL E G H234182343OMIM:172870Pigmented paravenous chorioretinal atrophy.156
HP:0000540HP:0000540Hypermetropia0CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0000540HP:0000540Hypermetropia0CREBBP CL E G H13872348OMIM:618332MENKE-HENNEKAM SYNDROME 1; MKHK1291
HP:0000540HP:0000540Hypermetropia0CREBBP CL E G H13872348ORPHA:353277Rubinstein-Taybi syndrome due to CREBBP mutationsHP:0040283 - Occasional291
HP:0000540HP:0000540Hypermetropia0CSGALNACT1 CL E G H5579024290OMIM:618870SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0000540HP:0000540Hypermetropia0CSTA CL E G H14752481ORPHA:263534Acral peeling skin syndrome4
HP:0000540HP:0000540Hypermetropia0CTCF CL E G H1066413723ORPHA:363611CTCF-related neurodevelopmental disorderHP:0040282 - Frequent20
HP:0000540HP:0000540Hypermetropia0CTCF CL E G H1066413723OMIM:615502Mental retardation, autosomal dominant 2120
HP:0000540HP:0000540Hypermetropia0CTNNB1 CL E G H14992514OMIM:615075Neurodevelopmental disorder with spastic diplegia and visual defectsHP:0040284 - Very rare88
HP:0000540HP:0000540Hypermetropia0CTNNB1 CL E G H14992514ORPHA:404473Severe intellectual disability-progressive spastic diplegia syndromeHP:0040283 - Occasional88
HP:0000540HP:0000540Hypermetropia0DDX6 CL E G H16562747OMIM:618653INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0000540HP:0000540Hypermetropia0DNAJC21 CL E G H13421827030OMIM:617052Bone marrow failure syndrome 3.5
HP:0000540HP:0000540Hypermetropia0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000540HP:0000540Hypermetropia0DPF2 CL E G H59779964OMIM:618027Coffin-Siris syndrome 7.
HP:0000540HP:0000540Hypermetropia0DYRK1A CL E G H18593091ORPHA:268261DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletionHP:0040283 - Occasional134
HP:0000540HP:0000540Hypermetropia0DYRK1A CL E G H18593091ORPHA:464311Intellectual disability syndrome due to a DYRK1A point mutationHP:0040283 - Occasional134
HP:0000540HP:0000540Hypermetropia0EHMT1 CL E G H7981324650ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040284 - Very rare223
HP:0000540HP:0000540Hypermetropia0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000540HP:0000540Hypermetropia0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000540HP:0000540Hypermetropia0EMC1 CL E G H2306528957OMIM:616875Cerebellar atrophy, visual impairment, and psychomotor retardation5
HP:0000540HP:0000540Hypermetropia0EP300 CL E G H20333373ORPHA:353284Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyHP:0040283 - Occasional250
HP:0000540HP:0000540Hypermetropia0EPRS1 CL E G H20583418OMIM:617951Leukodystrophy, hypomyelinating, 15.
HP:0000540HP:0000540Hypermetropia0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional199
HP:0000540HP:0000540Hypermetropia0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0000540HP:0000540Hypermetropia0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000540HP:0000540Hypermetropia0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040283 - Occasional55
HP:0000540HP:0000540Hypermetropia0ERMARD CL E G H5578021056ORPHA:758576q terminal deletion syndromeHP:0040282 - Frequent36
HP:0000540HP:0000540Hypermetropia0ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 133
HP:0000540HP:0000540Hypermetropia0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndromeHP:0040282 - Frequent8
HP:0000540HP:0000540Hypermetropia0FAM111A CL E G H6390124725OMIM:127000Kenny-caffey syndrome, type 2.8
HP:0000540HP:0000540Hypermetropia0FBXO11 CL E G H8020413590OMIM:618089Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities.7
HP:0000540HP:0000540Hypermetropia0FGD1 CL E G H22453663OMIM:305400Aarskog-Scott syndrome.62
HP:0000540HP:0000540Hypermetropia0FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontia18
HP:0000540HP:0000540Hypermetropia0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000540HP:0000540Hypermetropia0FKTN CL E G H22183622OMIM:253800MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4.184
HP:0000540HP:0000540Hypermetropia0FLCN CL E G H20116327310OMIM:610883Potocki-Lupski syndrome332
HP:0000540HP:0000540Hypermetropia0FOXL2 CL E G H6681092OMIM:110100Blepharophimosis, epicanthus inversus, and ptosis.92
HP:0000540HP:0000540Hypermetropia0GABRD CL E G H25634084ORPHA:16061p36 deletion syndrome10
HP:0000540HP:0000540Hypermetropia0GATAD2B CL E G H5745930778OMIM:615074Mental retardation, autosomal dominant 18.33
HP:0000540HP:0000540Hypermetropia0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasia68
HP:0000540HP:0000540Hypermetropia0GJA5 CL E G H27024279OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb39
HP:0000540HP:0000540Hypermetropia0GJA8 CL E G H27034281OMIM:612474Chromosome 1q21.1 deletion syndrome, 1.35-mb34
HP:0000540HP:0000540Hypermetropia0GNAT1 CL E G H27794393ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional39
HP:0000540HP:0000540Hypermetropia0GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040282 - Frequent19
HP:0000540HP:0000540Hypermetropia0GNB2 CL E G H27834398OMIM:619503NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0000540HP:0000540Hypermetropia0GNB3 CL E G H27844400ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional5
HP:0000540HP:0000540Hypermetropia0GNB3 CL E G H27844400OMIM:617024Night blindness, congenital stationary, type 1HHP:0040283 - Occasional5
HP:0000540HP:0000540Hypermetropia0GPR179 CL E G H44043531371ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional124
HP:0000540HP:0000540Hypermetropia0GRK1 CL E G H601110013ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional4
HP:0000540HP:0000540Hypermetropia0GRM6 CL E G H29164598ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional63
HP:0000540HP:0000540Hypermetropia0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000540HP:0000540Hypermetropia0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000540HP:0000540Hypermetropia0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000540HP:0000540Hypermetropia0H4C5 CL E G H83674790OMIM:619950
HP:0000540HP:0000540Hypermetropia0HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3
HP:0000540HP:0000540Hypermetropia0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome.38
HP:0000540HP:0000540Hypermetropia0HIVEP2 CL E G H30974921OMIM:616977Mental retardation, autosomal dominant 4313
HP:0000540HP:0000540Hypermetropia0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0000540HP:0000540Hypermetropia0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0000540HP:0000540Hypermetropia0HNRNPR CL E G H102365047OMIM:620073
HP:0000540HP:0000540Hypermetropia0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndrome345
HP:0000540HP:0000540Hypermetropia0HUWE1 CL E G H1007530892OMIM:309590Mental retardation, x-linked syndromic, Turner type98
HP:0000540HP:0000540Hypermetropia0IARS2 CL E G H5569929685OMIM:616007Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia25
HP:0000540HP:0000540Hypermetropia0IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasia93
HP:0000540HP:0000540Hypermetropia0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0000540HP:0000540Hypermetropia0IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasia11
HP:0000540HP:0000540Hypermetropia0IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasia4
HP:0000540HP:0000540Hypermetropia0IFT52 CL E G H5109815901OMIM:617102Short-Rib thoracic dysplasia 16 with or without polydactyly.4
HP:0000540HP:0000540Hypermetropia0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome.
HP:0000540HP:0000540Hypermetropia0IQSEC2 CL E G H2309629059OMIM:309530Mental retardation, X-linked 1.119
HP:0000540HP:0000540Hypermetropia0KANSL1 CL E G H28405824565ORPHA:36395817q21.31 microdeletion syndromeHP:0040282 - Frequent283
HP:0000540HP:0000540Hypermetropia0KANSL1 CL E G H28405824565OMIM:610443Koolen-De Vries syndrome283
HP:0000540HP:0000540Hypermetropia0KANSL1 CL E G H28405824565ORPHA:363965Koolen-De Vries syndrome due to a point mutationHP:0040282 - Frequent283
HP:0000540HP:0000540Hypermetropia0KAT5 CL E G H105245275OMIM:619103NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB1
HP:0000540HP:0000540Hypermetropia0KAT8 CL E G H8414817933OMIM:618974LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0000540HP:0000540Hypermetropia0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndrome1
HP:0000540HP:0000540Hypermetropia0KDM5C CL E G H824211114OMIM:300534Mental retardation, X-linked, syndromic, Claes-Jensen type81
HP:0000540HP:0000540Hypermetropia0KERA CL E G H110816309OMIM:217300Cornea plana 2.8
HP:0000540HP:0000540Hypermetropia0KIAA0753 CL E G H985129110OMIM:619476JOUBERT SYNDROME 38; JBTS384
HP:0000540HP:0000540Hypermetropia0KIDINS220 CL E G H5749829508OMIM:617296SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO4
HP:0000540HP:0000540Hypermetropia0KIDINS220 CL E G H5749829508ORPHA:521390Spastic paraplegia-intellectual disability-nystagmus-obesity syndromeHP:0040282 - Frequent4
HP:0000540HP:0000540Hypermetropia0KIF11 CL E G H38326388OMIM:152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation.46
HP:0000540HP:0000540Hypermetropia0KMT2B CL E G H975715840OMIM:61993411
HP:0000540HP:0000540Hypermetropia0KMT2C CL E G H5850813726ORPHA:261652Kleefstra syndrome due to a point mutationHP:0040284 - Very rare99
HP:0000540HP:0000540Hypermetropia0KRT14 CL E G H38616416ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional110
HP:0000540HP:0000540Hypermetropia0KRT5 CL E G H38526442ORPHA:79396Autosomal dominant generalized epidermolysis bullosa simplex, severe formHP:0040283 - Occasional173
HP:0000540HP:0000540Hypermetropia0LAMA1 CL E G H2842176481ORPHA:370022Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndromeHP:0040283 - Occasional35
HP:0000540HP:0000540Hypermetropia0LCA5 CL E G H16769131923OMIM:604537Leber congenital amaurosis 570
HP:0000540HP:0000540Hypermetropia0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000540HP:0000540Hypermetropia0LMBRD2 CL E G H9225525287OMIM:619694DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES; DENBA
HP:0000540HP:0000540Hypermetropia0LRIT3 CL E G H34519324783ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional54
HP:0000540HP:0000540Hypermetropia0LTBP2 CL E G H40536715OMIM:251750Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucomaHP:0040283 - Occasional123
HP:0000540HP:0000540Hypermetropia0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndrome
HP:0000540HP:0000540Hypermetropia0MADD CL E G H85676766OMIM:619004DEEAH SYNDROME; DEEAH5
HP:0000540HP:0000540Hypermetropia0MAG CL E G H40996783ORPHA:459056Autosomal recessive spastic paraplegia type 75HP:0040282 - Frequent4
HP:0000540HP:0000540Hypermetropia0MAG CL E G H40996783OMIM:616680Spastic paraplegia 75, autosomal recessive.4
HP:0000540HP:0000540Hypermetropia0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome.63
HP:0000540HP:0000540Hypermetropia0MAN1B1 CL E G H112536823ORPHA:397941MAN1B1-CDGHP:0040283 - Occasional93
HP:0000540HP:0000540Hypermetropia0MAN2B1 CL E G H41256826ORPHA:309282Alpha-mannosidosis, infantile formHP:0040282 - Frequent136
HP:0000540HP:0000540Hypermetropia0MARK3 CL E G H41406897OMIM:618283Visual impairment and progressive phthisis bulbi.
HP:0000540HP:0000540Hypermetropia0MBD5 CL E G H5577720444OMIM:156200Mental retardation, autosomal dominant 1.252
HP:0000540HP:0000540Hypermetropia0MED12 CL E G H996811957OMIM:300895Ohdo syndrome, X-linked228
HP:0000540HP:0000540Hypermetropia0MED12L CL E G H11693116050OMIM:618872NIZON-ISIDOR SYNDROME; NIZIDS
HP:0000540HP:0000540Hypermetropia0MED13L CL E G H2338922962ORPHA:369891Developmental delay-facial dysmorphism syndrome due to MED13L deficiencyHP:0040283 - Occasional74
HP:0000540HP:0000540Hypermetropia0MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndrome43
HP:0000540HP:0000540Hypermetropia0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000540HP:0000540Hypermetropia0MFRP CL E G H8355218121OMIM:611040Microphthalmia, isolated 5.26
HP:0000540HP:0000540Hypermetropia0MFRP CL E G H8355218121ORPHA:35612Nanophthalmos26
HP:0000540HP:0000540Hypermetropia0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome.5
HP:0000540HP:0000540Hypermetropia0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome.
HP:0000540HP:0000540Hypermetropia0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000540HP:0000540Hypermetropia0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndrome
HP:0000540HP:0000540Hypermetropia0MSX2 CL E G H44887392OMIM:604757Craniosynostosis 2HP:0040283 - Occasional45
HP:0000540HP:0000540Hypermetropia0MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1516
HP:0000540HP:0000540Hypermetropia0NBAS CL E G H5159415625OMIM:614800Short stature, optic nerve atrophy, and pelger-huet anomalyHP:0040283 - Occasional25
HP:0000540HP:0000540Hypermetropia0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000540HP:0000540Hypermetropia0NEK1 CL E G H47507744OMIM:263520Short-Rib thoracic dysplasia 6 with or without polydactyly.101
HP:0000540HP:0000540Hypermetropia0NFIX CL E G H47847788ORPHA:44798019p13.3 microduplication syndromeHP:0040283 - Occasional40
HP:0000540HP:0000540Hypermetropia0NFIX CL E G H47847788OMIM:614753Sotos syndrome 2.40
HP:0000540HP:0000540Hypermetropia0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 9.15
HP:0000540HP:0000540Hypermetropia0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000540HP:0000540Hypermetropia0NOG CL E G H92417866OMIM:611377Brachydactyly, type B222
HP:0000540HP:0000540Hypermetropia0NOG CL E G H92417866OMIM:186500Multiple synostoses syndrome 122
HP:0000540HP:0000540Hypermetropia0NOG CL E G H92417866OMIM:184460Stapes ankylosis with broad thumb and toesHP:0040281 - Very frequent22
HP:0000540HP:0000540Hypermetropia0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome.1
HP:0000540HP:0000540Hypermetropia0NR2F1 CL E G H70257975ORPHA:401777Optic atrophy-intellectual disability syndromeHP:0040284 - Very rare37
HP:0000540HP:0000540Hypermetropia0NSD1 CL E G H6432414234ORPHA:821Sotos syndromeHP:0040284 - Very rare544
HP:0000540HP:0000540Hypermetropia0NSD1 CL E G H6432414234OMIM:117550Sotos syndrome 1544
HP:0000540HP:0000540Hypermetropia0NYX CL E G H605068082ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional42
HP:0000540HP:0000540Hypermetropia0OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0000540HP:0000540Hypermetropia0OTUD5 CL E G H5559325402OMIM:301056MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0000540HP:0000540Hypermetropia0OTX2 CL E G H50158522ORPHA:35612Nanophthalmos41
HP:0000540HP:0000540Hypermetropia0P4HTM CL E G H5468128858OMIM:618493Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
HP:0000540HP:0000540Hypermetropia0PACS2 CL E G H2324123794OMIM:618067Epileptic encephalopathy, early infantile, 66.
HP:0000540HP:0000540Hypermetropia0PAX2 CL E G H50768616ORPHA:97362Renal hypoplasia, bilateral39
HP:0000540HP:0000540Hypermetropia0PBX1 CL E G H50878632ORPHA:97362Renal hypoplasia, bilateral3
HP:0000540HP:0000540Hypermetropia0PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1352
HP:0000540HP:0000540Hypermetropia0PCNT CL E G H511616068OMIM:210720Microcephalic osteodysplastic primordial dwarfism, type II.531
HP:0000540HP:0000540Hypermetropia0PDE4D CL E G H51448783ORPHA:439822PDE4D haploinsufficiency syndromeHP:0040283 - Occasional113
HP:0000540HP:0000540Hypermetropia0PDE6B CL E G H51588786ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional126
HP:0000540HP:0000540Hypermetropia0PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040282 - Frequent80
HP:0000540HP:0000540Hypermetropia0PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040282 - Frequent14
HP:0000540HP:0000540Hypermetropia0PDGFRB CL E G H51598804OMIM:601812Premature aging syndrome, Penttinen type.28
HP:0000540HP:0000540Hypermetropia0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndrome
HP:0000540HP:0000540Hypermetropia0PGAP2 CL E G H2731517893ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional8
HP:0000540HP:0000540Hypermetropia0PGAP3 CL E G H9321023719ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional20
HP:0000540HP:0000540Hypermetropia0PHIP CL E G H5502315673OMIM:617991Developmental delay, intellectual disability, obesity, and dysmorphic features.11
HP:0000540HP:0000540Hypermetropia0PHIP CL E G H5502315673ORPHA:589905PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome11
HP:0000540HP:0000540Hypermetropia0PIEZO2 CL E G H6389526270OMIM:108145Arthrogryposis, distal, type 5HP:0040283 - Occasional77
HP:0000540HP:0000540Hypermetropia0PIGG CL E G H5487225985ORPHA:488635Early-onset epilepsy-intellectual disability-brain anomalies syndromeHP:0040283 - Occasional7
HP:0000540HP:0000540Hypermetropia0PIGL CL E G H94878966ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional36
HP:0000540HP:0000540Hypermetropia0PIGO CL E G H8472023215ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional84
HP:0000540HP:0000540Hypermetropia0PIGT CL E G H5160414938ORPHA:369837Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndromeHP:0040282 - Frequent12
HP:0000540HP:0000540Hypermetropia0PIGT CL E G H5160414938OMIM:615398Multiple congenital anomalies-hypotonia-seizures syndrome 3.12
HP:0000540HP:0000540Hypermetropia0PIGU CL E G H12886915791OMIM:618590NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0000540HP:0000540Hypermetropia0PIGV CL E G H5565026031ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional57
HP:0000540HP:0000540Hypermetropia0PIGW CL E G H28409823213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional6
HP:0000540HP:0000540Hypermetropia0PIGY CL E G H8499228213ORPHA:247262Hyperphosphatasia-intellectual disability syndromeHP:0040283 - Occasional2
HP:0000540HP:0000540Hypermetropia0PLOD1 CL E G H53519081ORPHA:1900Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiencyHP:0040283 - Occasional105
HP:0000540HP:0000540Hypermetropia0POGZ CL E G H2312618801ORPHA:468678White-Sutton syndromeHP:0040282 - Frequent35
HP:0000540HP:0000540Hypermetropia0POGZ CL E G H2312618801OMIM:616364White-Sutton syndrome.35
HP:0000540HP:0000540Hypermetropia0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0000540HP:0000540Hypermetropia0POMT2 CL E G H2995419743OMIM:613150Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2.221
HP:0000540HP:0000540Hypermetropia0PPM1D CL E G H84939277OMIM:617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold.22
HP:0000540HP:0000540Hypermetropia0PPP1R12A CL E G H46597618OMIM:618820GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0000540HP:0000540Hypermetropia0PQBP1 CL E G H100849330OMIM:309500Renpenning syndrome.28
HP:0000540HP:0000540Hypermetropia0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndrome148
HP:0000540HP:0000540Hypermetropia0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndrome
HP:0000540HP:0000540Hypermetropia0PRPS1 CL E G H56319462OMIM:300661Phosphoribosylpyrophosphate synthetase superactivity49
HP:0000540HP:0000540Hypermetropia0PRR12 CL E G H5747929217OMIM:619539NEUROOCULAR SYNDROME; NOC1
HP:0000540HP:0000540Hypermetropia0PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 611
HP:0000540HP:0000540Hypermetropia0PRSS56 CL E G H64696039433ORPHA:35612Nanophthalmos11
HP:0000540HP:0000540Hypermetropia0PUF60 CL E G H2282717042ORPHA:508498Intellectual disability-cardiac anomalies-short stature-joint laxity syndromeHP:0040283 - Occasional19
HP:0000540HP:0000540Hypermetropia0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome.
HP:0000540HP:0000540Hypermetropia0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome.
HP:0000540HP:0000540Hypermetropia0RAB11B CL E G H92309761OMIM:617807Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter.
HP:0000540HP:0000540Hypermetropia0RAD50 CL E G H101119816OMIM:613078NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER; NBSLD789
HP:0000540HP:0000540Hypermetropia0RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndrome150
HP:0000540HP:0000540Hypermetropia0RAX CL E G H3006218662ORPHA:35612Nanophthalmos43
HP:0000540HP:0000540Hypermetropia0RERE CL E G H4739965ORPHA:16061p36 deletion syndrome16
HP:0000540HP:0000540Hypermetropia0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000540HP:0000540Hypermetropia0RHO CL E G H601010012ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional107
HP:0000540HP:0000540Hypermetropia0RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasia37
HP:0000540HP:0000540Hypermetropia0RORA CL E G H609510258OMIM:618060INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA1
HP:0000540HP:0000540Hypermetropia0RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040282 - Frequent200
HP:0000540HP:0000540Hypermetropia0RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6109
HP:0000540HP:0000540Hypermetropia0RPL10 CL E G H613410298OMIM:300998MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS3510
HP:0000540HP:0000540Hypermetropia0RRAS2 CL E G H2280017271OMIM:618624NOONAN SYNDROME 12; NS121
HP:0000540HP:0000540Hypermetropia0RS1 CL E G H624710457OMIM:312700Retinoschisis 1, X-linked, juvenile148
HP:0000540HP:0000540Hypermetropia0SAG CL E G H629510521ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional32
HP:0000540HP:0000540Hypermetropia0SATB1 CL E G H630410541OMIM:619229KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0000540HP:0000540Hypermetropia0SATB2 CL E G H2331421637ORPHA:251028SATB2-associated syndrome due to a chromosomal rearrangementHP:0040282 - Frequent34
HP:0000540HP:0000540Hypermetropia0SETBP1 CL E G H2604015573OMIM:616078Mental retardation, autosomal dominant 29143
HP:0000540HP:0000540Hypermetropia0SETD2 CL E G H2907218420ORPHA:821Sotos syndromeHP:0040284 - Very rare60
HP:0000540HP:0000540Hypermetropia0SETD5 CL E G H5520925566ORPHA:404440Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiencyHP:0040283 - Occasional43
HP:0000540HP:0000540Hypermetropia0SHANK3 CL E G H8535814294ORPHA:48652Monosomy 22q13.3HP:0040283 - Occasional53
HP:0000540HP:0000540Hypermetropia0SHOC2 CL E G H803615454OMIM:607721Noonan syndrome-like with loose anagen hair 174
HP:0000540HP:0000540Hypermetropia0SIN3A CL E G H2594219353OMIM:613406Witteveen-Kolk syndrome9
HP:0000540HP:0000540Hypermetropia0SIX6 CL E G H499010892ORPHA:35612Nanophthalmos20
HP:0000540HP:0000540Hypermetropia0SKI CL E G H649710896ORPHA:16061p36 deletion syndrome150
HP:0000540HP:0000540Hypermetropia0SLC24A1 CL E G H918710975ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional66
HP:0000540HP:0000540Hypermetropia0SLC25A24 CL E G H2995720662OMIM:612289Fontaine progeroid syndrome
HP:0000540HP:0000540Hypermetropia0SLC39A8 CL E G H6411620862ORPHA:468699SLC39A8-CDGHP:0040283 - Occasional11
HP:0000540HP:0000540Hypermetropia0SLC6A6 CL E G H653311052OMIM:145350Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000540HP:0000540Hypermetropia0SLC6A8 CL E G H653511055OMIM:300352Creatine deficiency syndrome, X-linked.122
HP:0000540HP:0000540Hypermetropia0SMAD4 CL E G H40896770OMIM:139210Myhre syndrome.504
HP:0000540HP:0000540Hypermetropia0SMAD4 CL E G H40896770ORPHA:2588Myhre syndrome504
HP:0000540HP:0000540Hypermetropia0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome.
HP:0000540HP:0000540Hypermetropia0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome.
HP:0000540HP:0000540Hypermetropia0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040283 - Occasional37
HP:0000540HP:0000540Hypermetropia0SOBP CL E G H5508429256OMIM:613671Mental retardation, anterior maxillary protrusion, and strabismusHP:0040283 - Occasional29
HP:0000540HP:0000540Hypermetropia0SON CL E G H665111183ORPHA:500150Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndromeHP:0040282 - Frequent12
HP:0000540HP:0000540Hypermetropia0SON CL E G H665111183OMIM:617140Zttk syndrome12
HP:0000540HP:0000540Hypermetropia0SOX2 CL E G H665711195ORPHA:35612Nanophthalmos33
HP:0000540HP:0000540Hypermetropia0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndrome4
HP:0000540HP:0000540Hypermetropia0SRCAP CL E G H1084716974OMIM:619595DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES; DEHMBA138
HP:0000540HP:0000540Hypermetropia0SRCAP CL E G H1084716974ORPHA:2044Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000540HP:0000540Hypermetropia0SRCAP CL E G H1084716974OMIM:136140Floating-Harbor syndromeHP:0040283 - Occasional138
HP:0000540HP:0000540Hypermetropia0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000540HP:0000540Hypermetropia0SYNE1 CL E G H2334517089OMIM:618484Arthrogryposis multiplex congenita, Myogenic type.1129
HP:0000540HP:0000540Hypermetropia0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0000540HP:0000540Hypermetropia0SYT1 CL E G H685711509ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndromeHP:0040283 - Occasional1
HP:0000540HP:0000540Hypermetropia0TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000540HP:0000540Hypermetropia0TASP1 CL E G H5561715859OMIM:618950SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0000540HP:0000540Hypermetropia0TBC1D23 CL E G H5577325622OMIM:617695Pontocerebellar hypoplasia, type 11.
HP:0000540HP:0000540Hypermetropia0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000540HP:0000540Hypermetropia0TCTN2 CL E G H7986725774OMIM:616654Joubert syndrome 24.76
HP:0000540HP:0000540Hypermetropia0TGM5 CL E G H933311781ORPHA:263534Acral peeling skin syndrome44
HP:0000540HP:0000540Hypermetropia0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000540HP:0000540Hypermetropia0TMEM98 CL E G H2602224529ORPHA:35612Nanophthalmos3
HP:0000540HP:0000540Hypermetropia0TMEM98 CL E G H2602224529OMIM:615972Nanophthalmos 43
HP:0000540HP:0000540Hypermetropia0TNPO2 CL E G H3000019998OMIM:619556INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0000540HP:0000540Hypermetropia0TRNS2 CL E G H45757498ORPHA:231183Usher syndrome type 3
HP:0000540HP:0000540Hypermetropia0TRPM1 CL E G H43087146ORPHA:215Congenital stationary night blindnessHP:0040283 - Occasional104
HP:0000540HP:0000540Hypermetropia0TRPV4 CL E G H5934118083OMIM:113500Brachyolmia type 3.214
HP:0000540HP:0000540Hypermetropia0TUBB4B CL E G H1038320771OMIM:617879Leber congenital amaurosis with early-onset deafness
HP:0000540HP:0000540Hypermetropia0TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 15HP:0040283 - Occasional66
HP:0000540HP:0000540Hypermetropia0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndrome
HP:0000540HP:0000540Hypermetropia0USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1173
HP:0000540HP:0000540Hypermetropia0USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 178
HP:0000540HP:0000540Hypermetropia0USP9X CL E G H823912632OMIM:300968Mental retardation, X-linked 99, syndromic, female-restricted.27
HP:0000540HP:0000540Hypermetropia0USP9X CL E G H823912632ORPHA:480880X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disabilityHP:0040283 - Occasional27
HP:0000540HP:0000540Hypermetropia0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000540HP:0000540Hypermetropia0WAC CL E G H5132217327ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletionHP:0040283 - Occasional20
HP:0000540HP:0000540Hypermetropia0WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasia95
HP:0000540HP:0000540Hypermetropia0WDR19 CL E G H5772818340OMIM:614378Cranioectodermal dysplasia 4.95
HP:0000540HP:0000540Hypermetropia0WDR26 CL E G H8023221208ORPHA:513456Intellectual disability-seizures-abnormal gait-facial dysmorphism syndromeHP:0040283 - Occasional8
HP:0000540HP:0000540Hypermetropia0WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasia136
HP:0000540HP:0000540Hypermetropia0WDR35 CL E G H5753929250OMIM:613610Cranioectodermal dysplasia 2136
HP:0000540HP:0000540Hypermetropia0YME1L1 CL E G H1073012843OMIM:617302Optic atrophy 11.2
HP:0000540HP:0000540Hypermetropia0YY1 CL E G H752812856ORPHA:506358Gabriele-de Vries syndromeHP:0040283 - Occasional7
HP:0000540HP:0000540Hypermetropia0ZC4H2 CL E G H5590624931OMIM:301041WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR19
HP:0000540HP:0000540Hypermetropia0ZFHX4 CL E G H7977630939ORPHA:91411Congenital ptosis
HP:0000540HP:0000540Hypermetropia0ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000540HP:0000540Hypermetropia0ZNF148 CL E G H770712933OMIM:617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies.4
HP:0000540HP:0031728Mild hypermetropia1 CL E G H
HP:0000540HP:0008499High hypermetropia1ALDH1A3 CL E G H220409ORPHA:35612NanophthalmosHP:0040281 - Very frequent10
HP:0000540HP:0008499High hypermetropia1ARSG CL E G H2290124102ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent
HP:0000540HP:0008499High hypermetropia1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000540HP:0008499High hypermetropia1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000540HP:0008499High hypermetropia1BEST1 CL E G H743912703ORPHA:35612NanophthalmosHP:0040281 - Very frequent182
HP:0000540HP:0008499High hypermetropia1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000540HP:0008499High hypermetropia1CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent3
HP:0000540HP:0008499High hypermetropia1CDH23 CL E G H6407213733ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent636
HP:0000540HP:0008499High hypermetropia1CEP78 CL E G H8413125740ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent9
HP:0000540HP:0008499High hypermetropia1CIB2 CL E G H1051824579ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent15
HP:0000540HP:0008499High hypermetropia1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000540HP:0008499High hypermetropia1CLRN1 CL E G H740112605ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent60
HP:0000540HP:0008499High hypermetropia1CNNM4 CL E G H26504105OMIM:217080Jalili syndrome61
HP:0000540HP:0008499High hypermetropia1CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8.156
HP:0000540HP:0008499High hypermetropia1CRB1 CL E G H234182343ORPHA:35612NanophthalmosHP:0040281 - Very frequent156
HP:0000540HP:0008499High hypermetropia1CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0000540HP:0008499High hypermetropia1CSTA CL E G H14752481ORPHA:263534Acral peeling skin syndromeHP:0040282 - Frequent4
HP:0000540HP:0008499High hypermetropia1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000540HP:0008499High hypermetropia1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000540HP:0008499High hypermetropia1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040281 - Very frequent172
HP:0000540HP:0008499High hypermetropia1ESPN CL E G H8371513281ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent33
HP:0000540HP:0008499High hypermetropia1FGF3 CL E G H22483681ORPHA:90024Deafness with labyrinthine aplasia, microtia, and microdontiaHP:0040283 - Occasional18
HP:0000540HP:0008499High hypermetropia1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000540HP:0008499High hypermetropia1GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent10
HP:0000540HP:0008499High hypermetropia1GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0000540HP:0008499High hypermetropia1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000540HP:0008499High hypermetropia1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000540HP:0008499High hypermetropia1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000540HP:0008499High hypermetropia1HARS1 CL E G H30354816ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent
HP:0000540HP:0008499High hypermetropia1HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent345
HP:0000540HP:0008499High hypermetropia1IFT122 CL E G H5576413556ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional93
HP:0000540HP:0008499High hypermetropia1IFT43 CL E G H11275229669ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional11
HP:0000540HP:0008499High hypermetropia1IFT52 CL E G H5109815901ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional4
HP:0000540HP:0008499High hypermetropia1KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent1
HP:0000540HP:0008499High hypermetropia1LCA5 CL E G H16769131923OMIM:604537Leber congenital amaurosis 5.70
HP:0000540HP:0008499High hypermetropia1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000540HP:0008499High hypermetropia1LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000540HP:0008499High hypermetropia1MED25 CL E G H8185728845ORPHA:464738Basel-Vanagaite-Smirin-Yosef syndromeHP:0040283 - Occasional43
HP:0000540HP:0008499High hypermetropia1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000540HP:0008499High hypermetropia1MFRP CL E G H8355218121ORPHA:35612NanophthalmosHP:0040281 - Very frequent26
HP:0000540HP:0008499High hypermetropia1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040281 - Very frequent1
HP:0000540HP:0008499High hypermetropia1MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000540HP:0008499High hypermetropia1MYO7A CL E G H46477606ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent516
HP:0000540HP:0008499High hypermetropia1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040281 - Very frequent13
HP:0000540HP:0008499High hypermetropia1NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000540HP:0008499High hypermetropia1OGT CL E G H84738127OMIM:300997Mental retardation, X-linked 1064
HP:0000540HP:0008499High hypermetropia1OTX2 CL E G H50158522ORPHA:35612NanophthalmosHP:0040281 - Very frequent41
HP:0000540HP:0008499High hypermetropia1PCDH15 CL E G H6521714674ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent352
HP:0000540HP:0008499High hypermetropia1PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000540HP:0008499High hypermetropia1PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent148
HP:0000540HP:0008499High hypermetropia1PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000540HP:0008499High hypermetropia1PRSS56 CL E G H64696039433OMIM:613517Microphthalmia, isolated 6.11
HP:0000540HP:0008499High hypermetropia1PRSS56 CL E G H64696039433ORPHA:35612NanophthalmosHP:0040281 - Very frequent11
HP:0000540HP:0008499High hypermetropia1RAI1 CL E G H107439834ORPHA:171317p11.2 microduplication syndromeHP:0040282 - Frequent150
HP:0000540HP:0008499High hypermetropia1RAX CL E G H3006218662ORPHA:35612NanophthalmosHP:0040281 - Very frequent43
HP:0000540HP:0008499High hypermetropia1RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent16
HP:0000540HP:0008499High hypermetropia1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000540HP:0008499High hypermetropia1RMRP CL E G H602310031ORPHA:175Cartilage-hair hypoplasiaHP:0040281 - Very frequent37
HP:0000540HP:0008499High hypermetropia1RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6.109
HP:0000540HP:0008499High hypermetropia1SIX6 CL E G H499010892ORPHA:35612NanophthalmosHP:0040281 - Very frequent20
HP:0000540HP:0008499High hypermetropia1SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent150
HP:0000540HP:0008499High hypermetropia1SLC6A6 CL E G H653311052OMIM:145350Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0000540HP:0008499High hypermetropia1SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040282 - Frequent504
HP:0000540HP:0008499High hypermetropia1SOX2 CL E G H665711195ORPHA:35612NanophthalmosHP:0040281 - Very frequent33
HP:0000540HP:0008499High hypermetropia1SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent4
HP:0000540HP:0008499High hypermetropia1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000540HP:0031729Moderate hypermetropia1SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0000540HP:0008499High hypermetropia1TAOK1 CL E G H5755129259OMIM:619575DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0000540HP:0008499High hypermetropia1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000540HP:0008499High hypermetropia1TGM5 CL E G H933311781ORPHA:263534Acral peeling skin syndromeHP:0040282 - Frequent44
HP:0000540HP:0008499High hypermetropia1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000540HP:0008499High hypermetropia1TMEM98 CL E G H2602224529ORPHA:35612NanophthalmosHP:0040281 - Very frequent3
HP:0000540HP:0008499High hypermetropia1TRNS2 CL E G H45757498ORPHA:231183Usher syndrome type 3HP:0040282 - Frequent
HP:0000540HP:0008499High hypermetropia1TUBB4B CL E G H1038320771OMIM:617879Leber congenital amaurosis with early-onset deafness.
HP:0000540HP:0008499High hypermetropia1UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040282 - Frequent
HP:0000540HP:0008499High hypermetropia1USH1C CL E G H1008312597ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent173
HP:0000540HP:0008499High hypermetropia1USH1G CL E G H12459016356ORPHA:231169Usher syndrome type 1HP:0040282 - Frequent78
HP:0000540HP:0008499High hypermetropia1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040281 - Very frequent
HP:0000540HP:0008499High hypermetropia1WDR19 CL E G H5772818340ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional95
HP:0000540HP:0008499High hypermetropia1WDR35 CL E G H5753929250ORPHA:1515Cranioectodermal dysplasiaHP:0040283 - Occasional136
HP:0000540HP:0008499High hypermetropia1ZMYM2 CL E G H775012989OMIM:619522NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0000540HP:0500042Latent hypermetropia2 CL E G H


Genes (268) :ADGRL1 ADNP ALDH1A3 APC2 ARSG ASH1L ASXL3 ATF6 ATP6AP1 ATP6V1A B3GAT3 B4GALT7 BAZ1B BCL11B BCL7B BEST1 BICRA BLOC1S3 BLTP1 BUD23 CABP4 CACNA1F CACNA1G CACNA2D4 CASZ1 CCDC47 CDH23 CENPT CEP78 CHAMP1 CHD3 CHMP1A CHST3 CIB2 CLCN3 CLDN11 CLDN16 CLIP2 CLRN1 CNGA3 CNGB3 CNNM4 CNOT3 COL11A2 COL25A1 COL3A1 COL4A1 CRB1 CREBBP CSGALNACT1 CSTA CTCF CTNNB1 DDX6 DNAJC21 DNAJC30 DPF2 DYRK1A EHMT1 EIF4H ELN EMC1 EP300 EPRS1 ERCC6 ERCC8 ERMARD ESPN FAM111A FBXO11 FGD1 FGF3 FKBP6 FKTN FLCN FOXL2 GABRD GATAD2B GJA1 GJA5 GJA8 GNAT1 GNAT2 GNB2 GNB3 GPR179 GRK1 GRM6 GTF2I GTF2IRD1 GTF2IRD2 H4C5 HARS1 HERC2 HIVEP2 HNRNPK HNRNPR HSPG2 HUWE1 IARS2 IFT122 IFT172 IFT43 IFT52 IPW IQSEC2 KANSL1 KAT5 KAT8 KCNAB2 KDM5C KERA KIAA0753 KIDINS220 KIF11 KMT2B KMT2C KRT14 KRT5 LAMA1 LCA5 LIMK1 LMBRD2 LRIT3 LTBP2 LUZP1 MADD MAG MAGEL2 MAN1B1 MAN2B1 MARK3 MBD5 MED12 MED12L MED13L MED25 METTL27 MFRP MKRN3 MKRN3-AS1 MLXIPL MMP23B MSX2 MYO7A NBAS NCF1 NEK1 NFIX NMNAT1 NOG NPAP1 NR2F1 NSD1 NYX OGT OTUD5 OTX2 P4HTM PACS2 PAX2 PBX1 PCDH15 PCNT PDE4D PDE6B PDE6C PDE6H PDGFRB PDPN PGAP2 PGAP3 PHIP PIEZO2 PIGG PIGL PIGO PIGT PIGU PIGV PIGW PIGY PLOD1 POGZ POLR3A POMT2 PPM1D PPP1R12A PQBP1 PRDM16 PRKCZ PRPS1 PRR12 PRSS56 PUF60 PWAR1 PWRN1 RAB11B RAD50 RAI1 RAX RERE RFC2 RHO RMRP RORA RPGR RPGRIP1 RPL10 RRAS2 RS1 SAG SATB1 SATB2 SETBP1 SETD2 SETD5 SHANK3 SHOC2 SIN3A SIX6 SKI SLC24A1 SLC25A24 SLC39A8 SLC6A6 SLC6A8 SMAD4 SNORD115-1 SNORD116-1 SNRPN SOBP SON SOX2 SPEN SRCAP STX1A SYNE1 SYT1 TAOK1 TASP1 TBC1D23 TBL2 TCTN2 TGM5 TMEM270 TMEM98 TNPO2 TRNS2 TRPM1 TRPV4 TUBB4B TULP1 UBE4B USH1C USH1G USP9X VPS37D WAC WDR19 WDR26 WDR35 YME1L1 YY1 ZC4H2 ZFHX4 ZMYM2 ZNF148

Diseases (207) :OMIM:620065 ORPHA:404448 OMIM:615873 ORPHA:35612 ORPHA:821 ORPHA:231183 OMIM:617796 OMIM:615485 ORPHA:49382 OMIM:300972 OMIM:618012 OMIM:245600 OMIM:130070 ORPHA:904 OMIM:618092 OMIM:611809 OMIM:619325 OMIM:614077 OMIM:617822 ORPHA:215 OMIM:618087 ORPHA:1606 OMIM:618268 ORPHA:231169 OMIM:618702 OMIM:616579 OMIM:618205 OMIM:614961 OMIM:619512 OMIM:619328 OMIM:248250 OMIM:217080 OMIM:618672 ORPHA:1427 ORPHA:91411 OMIM:618343 OMIM:175780 OMIM:613835 OMIM:172870 OMIM:600105 OMIM:618332 ORPHA:353277 OMIM:618870 ORPHA:263534 ORPHA:363611 OMIM:615502 OMIM:615075 ORPHA:404473 OMIM:618653 OMIM:617052 OMIM:618027 ORPHA:268261 ORPHA:464311 ORPHA:261652 OMIM:616875 ORPHA:353284 OMIM:617951 ORPHA:90324 OMIM:133540 OMIM:216400 ORPHA:75857 ORPHA:93325 OMIM:127000 OMIM:618089 OMIM:305400 ORPHA:90024 OMIM:253800 OMIM:610883 OMIM:110100 OMIM:615074 ORPHA:2710 OMIM:612474 OMIM:619503 OMIM:617024 OMIM:619950 OMIM:176270 OMIM:616977 ORPHA:352665 ORPHA:453504 OMIM:620073 OMIM:309590 OMIM:616007 ORPHA:1515 OMIM:619471 OMIM:617102 OMIM:309530 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619103 OMIM:618974 OMIM:300534 OMIM:217300 OMIM:619476 OMIM:617296 ORPHA:521390 OMIM:152950 OMIM:619934 ORPHA:79396 ORPHA:370022 OMIM:604537 OMIM:619694 OMIM:251750 OMIM:619004 ORPHA:459056 OMIM:616680 ORPHA:397941 ORPHA:309282 OMIM:618283 OMIM:156200 OMIM:300895 OMIM:618872 ORPHA:369891 ORPHA:464738 OMIM:611040 OMIM:604757 OMIM:614800 OMIM:263520 ORPHA:447980 OMIM:614753 OMIM:608553 OMIM:619260 OMIM:611377 OMIM:186500 OMIM:184460 ORPHA:401777 OMIM:117550 OMIM:300997 OMIM:301056 OMIM:618493 OMIM:618067 ORPHA:97362 OMIM:210720 ORPHA:439822 OMIM:601812 ORPHA:247262 OMIM:617991 ORPHA:589905 OMIM:108145 ORPHA:488635 ORPHA:369837 OMIM:615398 OMIM:618590 ORPHA:1900 ORPHA:468678 OMIM:616364 ORPHA:3455 OMIM:613150 OMIM:617450 OMIM:618820 OMIM:309500 OMIM:300661 OMIM:619539 OMIM:613517 ORPHA:508498 OMIM:617807 OMIM:613078 ORPHA:1713 ORPHA:175 OMIM:618060 OMIM:613826 OMIM:300998 OMIM:618624 OMIM:312700 OMIM:619229 ORPHA:251028 OMIM:616078 ORPHA:404440 ORPHA:48652 OMIM:607721 OMIM:613406 OMIM:612289 ORPHA:468699 OMIM:145350 OMIM:300352 OMIM:139210 ORPHA:2588 ORPHA:177907 OMIM:613671 ORPHA:500150 OMIM:617140 OMIM:619595 ORPHA:2044 OMIM:136140 OMIM:618484 ORPHA:319332 ORPHA:522077 OMIM:619575 OMIM:618950 OMIM:617695 OMIM:616654 OMIM:615972 OMIM:619556 OMIM:113500 OMIM:617879 OMIM:613843 OMIM:300968 ORPHA:480880 ORPHA:284169 OMIM:614378 ORPHA:513456 OMIM:613610 OMIM:617302 ORPHA:506358 OMIM:301041 OMIM:619522 OMIM:617260
 

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