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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000540HP:0000540Hypermetropia0ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16817915766611386
HP:0000540HP:0000540Hypermetropia0ATF6 CL E G H2292649382ORPHA11694791605537
HP:0000540HP:0000540Hypermetropia0ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0000540HP:0000540Hypermetropia0ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1947851607027
HP:0000540HP:0000540Hypermetropia0B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0000540HP:0000540Hypermetropia0BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM1126513222606558
HP:0000540HP:0000540Hypermetropia0BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM131935412703607854
HP:0000540HP:0000540Hypermetropia0BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM142920914609762
HP:0000540HP:0000540Hypermetropia0CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0000540HP:0000540Hypermetropia0CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000540HP:0000540Hypermetropia0CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11716820311616327
HP:0000540HP:0000540Hypermetropia0CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM110771918602120
HP:0000540HP:0000540Hypermetropia0CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131068740164010
HP:0000540HP:0000540Hypermetropia0CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0000540HP:0000540Hypermetropia0CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM1651882037603959
HP:0000540HP:0000540Hypermetropia0CNGA3 CL E G H126149382ORPHA11522482150600053
HP:0000540HP:0000540Hypermetropia0CNGB3 CL E G H5471449382ORPHA11264102153605080
HP:0000540HP:0000540Hypermetropia0CRB1 CL E G H23418172870Pigmented paravenous chorioretinal atrophy172870C1868310OMIM13475442343604210
HP:0000540HP:0000540Hypermetropia0CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM1189613723604167
HP:0000540HP:0000540Hypermetropia0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM1116027030617048
HP:0000540HP:0000540Hypermetropia0DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000540HP:0000540Hypermetropia0EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA1811253255604032
HP:0000540HP:0000540Hypermetropia0EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM1712028957616846
HP:0000540HP:0000540Hypermetropia0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0000540HP:0000540Hypermetropia0ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000540HP:0000540Hypermetropia0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000540HP:0000540Hypermetropia0ERMARD CL E G H5578075857ORPHA1214521056615532
HP:0000540HP:0000540Hypermetropia0FAM111A CL E G H6390193325ORPHA194124725615292
HP:0000540HP:0000540Hypermetropia0FAM111A CL E G H63901127000Kenny-Caffey syndrome type 2127000C4316787OMIM194124725615292
HP:0000540HP:0000540Hypermetropia0FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0000540HP:0000540Hypermetropia0FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0000540HP:0000540Hypermetropia0FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0000540HP:0000540Hypermetropia0FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0000540HP:0000540Hypermetropia0FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12241661092605597
HP:0000540HP:0000540Hypermetropia0GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM1149630778614998
HP:0000540HP:0000540Hypermetropia0GNAT2 CL E G H278049382ORPHA116914394139340
HP:0000540HP:0000540Hypermetropia0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0000540HP:0000540Hypermetropia0IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0000540HP:0000540Hypermetropia0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0000540HP:0000540Hypermetropia0IQSEC2 CL E G H23096309530Mental retardation, X-linked 1309530C2931498OMIM15753929059300522
HP:0000540HP:0000540Hypermetropia0KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0000540HP:0000540Hypermetropia0KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0000540HP:0000540Hypermetropia0KERA CL E G H11081217300Cornea plana 2217300C1857574OMIM115266309603288
HP:0000540HP:0000540Hypermetropia0KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0000540HP:0000540Hypermetropia0KIDINS220 CL E G H57498521390ORPHA1158429508615759
HP:0000540HP:0000540Hypermetropia0KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM1158429508615759
HP:0000540HP:0000540Hypermetropia0KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000540HP:0000540Hypermetropia0LCA5 CL E G H167691604537Leber congenital amaurosis 5604537C1858301OMIM14924631923611408
HP:0000540HP:0000540Hypermetropia0LMNA CL E G H4000740Aortic arch interruptionORPHA157411526636150330
HP:0000540HP:0000540Hypermetropia0MAG CL E G H4099459056ORPHA14896783159460
HP:0000540HP:0000540Hypermetropia0MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM14896783159460
HP:0000540HP:0000540Hypermetropia0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0000540HP:0000540Hypermetropia0MARK3 CL E G H4140618283618283618283OMIM12546897602678
HP:0000540HP:0000540Hypermetropia0MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000540HP:0000540Hypermetropia0MFRP CL E G H83552611040Microphthalmia, isolated 5611040C1970236OMIM13125918121606227
HP:0000540HP:0000540Hypermetropia0MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM1612407105156845
HP:0000540HP:0000540Hypermetropia0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0000540HP:0000540Hypermetropia0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000540HP:0000540Hypermetropia0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0000540HP:0000540Hypermetropia0NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM1303117744604588
HP:0000540HP:0000540Hypermetropia0NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11041547788164005
HP:0000540HP:0000540Hypermetropia0NMNAT1 CL E G H64802608553Leber congenital amaurosis 9608553C1837873OMIM17611217877608700
HP:0000540HP:0000540Hypermetropia0NOG CL E G H9241184460Stapes ankylosis with broad thumb and toes184460C1866656OMIM164477866602991
HP:0000540HP:0000540Hypermetropia0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0000540HP:0000540Hypermetropia0NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM152589614234606681
HP:0000540HP:0000540Hypermetropia0PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM129223794610423
HP:0000540HP:0000540Hypermetropia0PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM18888516068605925
HP:0000540HP:0000540Hypermetropia0PDE6C CL E G H514649382ORPHA1582208787600827
HP:0000540HP:0000540Hypermetropia0PDE6H CL E G H514949382ORPHA12608790601190
HP:0000540HP:0000540Hypermetropia0PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM1241508804173410
HP:0000540HP:0000540Hypermetropia0PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM1297815673612870
HP:0000540HP:0000540Hypermetropia0PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1127214938610272
HP:0000540HP:0000540Hypermetropia0POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000540HP:0000540Hypermetropia0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0000540HP:0000540Hypermetropia0PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0000540HP:0000540Hypermetropia0PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000540HP:0000540Hypermetropia0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0000540HP:0000540Hypermetropia0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0000540HP:0000540Hypermetropia0RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0000540HP:0000540Hypermetropia0RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM19522069816604040
HP:0000540HP:0000540Hypermetropia0RPGR CL E G H610349382ORPHA124566210295312610
HP:0000540HP:0000540Hypermetropia0RS1 CL E G H6247312700Juvenile retinoschisis312700C0271091OMIM127945410457300839
HP:0000540HP:0000540Hypermetropia0SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000540HP:0000540Hypermetropia0SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000540HP:0000540Hypermetropia0SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0000540HP:0000540Hypermetropia0SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0000540HP:0000540Hypermetropia0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0000540HP:0000540Hypermetropia0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0000540HP:0000540Hypermetropia0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0000540HP:0000540Hypermetropia0SON CL E G H6651500150ORPHA12822411183182465
HP:0000540HP:0000540Hypermetropia0SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0000540HP:0000540Hypermetropia0TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM192525622617687
HP:0000540HP:0000540Hypermetropia0TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM11520325774613846
HP:0000540HP:0000540Hypermetropia0TRPV4 CL E G H59341113500Brachyrachia (short spine dysplasia)113500C0432227OMIM18253918083605427
HP:0000540HP:0000540Hypermetropia0TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM144522612442606933
HP:0000540HP:0000540Hypermetropia0USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0000540HP:0000540Hypermetropia0WDR19 CL E G H57728614378Cranioectodermal dysplasia 4614378C3280616OMIM14529418340608151
HP:0000540HP:0000540Hypermetropia0YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM113612843607472
HP:0000540HP:0000540Hypermetropia0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA13413612877606480
HP:0000540HP:0000540Hypermetropia0ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
HP:0000540HP:0000540Hypermetropia1ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16817915766611386
HP:0000540HP:0000540Hypermetropia1ATF6 CL E G H2292649382ORPHA11694791605537
HP:0000540HP:0000540Hypermetropia1ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0000540HP:0000540Hypermetropia1ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1947851607027
HP:0000540HP:0000540Hypermetropia1B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0000540HP:0000540Hypermetropia1BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM1126513222606558
HP:0000540HP:0000540Hypermetropia1BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM131935412703607854
HP:0000540HP:0000540Hypermetropia1BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM142920914609762
HP:0000540HP:0000540Hypermetropia1CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0000540HP:0000540Hypermetropia1CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000540HP:0000540Hypermetropia1CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11716820311616327
HP:0000540HP:0000540Hypermetropia1CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM110771918602120
HP:0000540HP:0000540Hypermetropia1CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131068740164010
HP:0000540HP:0000540Hypermetropia1CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0000540HP:0000540Hypermetropia1CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM1651882037603959
HP:0000540HP:0000540Hypermetropia1CNGA3 CL E G H126149382ORPHA11522482150600053
HP:0000540HP:0000540Hypermetropia1CNGB3 CL E G H5471449382ORPHA11264102153605080
HP:0000540HP:0000540Hypermetropia1CRB1 CL E G H23418172870Pigmented paravenous chorioretinal atrophy172870C1868310OMIM13475442343604210
HP:0000540HP:0000540Hypermetropia1CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM1189613723604167
HP:0000540HP:0000540Hypermetropia1DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM1116027030617048
HP:0000540HP:0000540Hypermetropia1DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000540HP:0000540Hypermetropia1EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA1811253255604032
HP:0000540HP:0000540Hypermetropia1EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM1712028957616846
HP:0000540HP:0000540Hypermetropia1EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0000540HP:0000540Hypermetropia1ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000540HP:0000540Hypermetropia1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000540HP:0000540Hypermetropia1ERMARD CL E G H5578075857ORPHA1214521056615532
HP:0000540HP:0000540Hypermetropia1FAM111A CL E G H6390193325ORPHA194124725615292
HP:0000540HP:0000540Hypermetropia1FAM111A CL E G H63901127000Kenny-Caffey syndrome type 2127000C4316787OMIM194124725615292
HP:0000540HP:0000540Hypermetropia1FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0000540HP:0000540Hypermetropia1FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0000540HP:0000540Hypermetropia1FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0000540HP:0000540Hypermetropia1FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0000540HP:0000540Hypermetropia1FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12241661092605597
HP:0000540HP:0000540Hypermetropia1GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM1149630778614998
HP:0000540HP:0000540Hypermetropia1GNAT2 CL E G H278049382ORPHA116914394139340
HP:0000540HP:0000540Hypermetropia1HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0000540HP:0000540Hypermetropia1IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0000540HP:0000540Hypermetropia1IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0000540HP:0000540Hypermetropia1IQSEC2 CL E G H23096309530Mental retardation, X-linked 1309530C2931498OMIM15753929059300522
HP:0000540HP:0000540Hypermetropia1KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0000540HP:0000540Hypermetropia1KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0000540HP:0000540Hypermetropia1KERA CL E G H11081217300Cornea plana 2217300C1857574OMIM115266309603288
HP:0000540HP:0000540Hypermetropia1KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0000540HP:0000540Hypermetropia1KIDINS220 CL E G H57498521390ORPHA1158429508615759
HP:0000540HP:0000540Hypermetropia1KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM1158429508615759
HP:0000540HP:0000540Hypermetropia1KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000540HP:0000540Hypermetropia1LCA5 CL E G H167691604537Leber congenital amaurosis 5604537C1858301OMIM14924631923611408
HP:0000540HP:0000540Hypermetropia1LMNA CL E G H4000740Aortic arch interruptionORPHA157411526636150330
HP:0000540HP:0000540Hypermetropia1MAG CL E G H4099459056ORPHA14896783159460
HP:0000540HP:0000540Hypermetropia1MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM14896783159460
HP:0000540HP:0000540Hypermetropia1MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0000540HP:0000540Hypermetropia1MARK3 CL E G H4140618283618283618283OMIM12546897602678
HP:0000540HP:0000540Hypermetropia1MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000540HP:0000540Hypermetropia1MFRP CL E G H83552611040Microphthalmia, isolated 5611040C1970236OMIM13125918121606227
HP:0000540HP:0000540Hypermetropia1MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM1612407105156845
HP:0000540HP:0000540Hypermetropia1MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0000540HP:0000540Hypermetropia1MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000540HP:0000540Hypermetropia1NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0000540HP:0000540Hypermetropia1NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM1303117744604588
HP:0000540HP:0000540Hypermetropia1NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11041547788164005
HP:0000540HP:0000540Hypermetropia1NMNAT1 CL E G H64802608553Leber congenital amaurosis 9608553C1837873OMIM17611217877608700
HP:0000540HP:0000540Hypermetropia1NOG CL E G H9241184460Stapes ankylosis with broad thumb and toes184460C1866656OMIM164477866602991
HP:0000540HP:0000540Hypermetropia1NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0000540HP:0000540Hypermetropia1NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM152589614234606681
HP:0000540HP:0000540Hypermetropia1PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM129223794610423
HP:0000540HP:0000540Hypermetropia1PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM18888516068605925
HP:0000540HP:0000540Hypermetropia1PDE6C CL E G H514649382ORPHA1582208787600827
HP:0000540HP:0000540Hypermetropia1PDE6H CL E G H514949382ORPHA12608790601190
HP:0000540HP:0000540Hypermetropia1PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM1241508804173410
HP:0000540HP:0000540Hypermetropia1PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM1297815673612870
HP:0000540HP:0000540Hypermetropia1PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1127214938610272
HP:0000540HP:0000540Hypermetropia1POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000540HP:0000540Hypermetropia1POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0000540HP:0000540Hypermetropia1PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0000540HP:0000540Hypermetropia1PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000540HP:0000540Hypermetropia1PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0000540HP:0000540Hypermetropia1PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0000540HP:0000540Hypermetropia1RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0000540HP:0000540Hypermetropia1RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM19522069816604040
HP:0000540HP:0000540Hypermetropia1RPGR CL E G H610349382ORPHA124566210295312610
HP:0000540HP:0000540Hypermetropia1RS1 CL E G H6247312700Juvenile retinoschisis312700C0271091OMIM127945410457300839
HP:0000540HP:0000540Hypermetropia1SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000540HP:0000540Hypermetropia1SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000540HP:0000540Hypermetropia1SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0000540HP:0000540Hypermetropia1SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0000540HP:0000540Hypermetropia1SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0000540HP:0000540Hypermetropia1SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0000540HP:0000540Hypermetropia1SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0000540HP:0000540Hypermetropia1SON CL E G H6651500150ORPHA12822411183182465
HP:0000540HP:0000540Hypermetropia1SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0000540HP:0000540Hypermetropia1TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM192525622617687
HP:0000540HP:0000540Hypermetropia1TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM11520325774613846
HP:0000540HP:0000540Hypermetropia1TRPV4 CL E G H59341113500Brachyrachia (short spine dysplasia)113500C0432227OMIM18253918083605427
HP:0000540HP:0000540Hypermetropia1TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM144522612442606933
HP:0000540HP:0000540Hypermetropia1USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0000540HP:0000540Hypermetropia1WDR19 CL E G H57728614378Cranioectodermal dysplasia 4614378C3280616OMIM14529418340608151
HP:0000540HP:0000540Hypermetropia1YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM113612843607472
HP:0000540HP:0000540Hypermetropia1ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA13413612877606480
HP:0000540HP:0000540Hypermetropia1ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
HP:0000540HP:0000540Hypermetropia2ADNP CL E G H23394615873Helsmoortel-van der aa syndrome615873C4014538OMIM16817915766611386
HP:0000540HP:0000540Hypermetropia2ATF6 CL E G H2292649382ORPHA11694791605537
HP:0000540HP:0000540Hypermetropia2ATP6AP1 CL E G H537300972Immunodeficiency 47300972C4310819OMIM15233868300197
HP:0000540HP:0000540Hypermetropia2ATP6V1A CL E G H523618012EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 3618012CN248521OMIM1947851607027
HP:0000540HP:0000540Hypermetropia2B3GAT3 CL E G H26229245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM11343923606374
HP:0000540HP:0000540Hypermetropia2BCL11B CL E G H64919618092INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES618092CN253429OMIM1126513222606558
HP:0000540HP:0000540Hypermetropia2BEST1 CL E G H7439611809Bestrophinopathy, autosomal recessive611809C3888198OMIM131935412703607854
HP:0000540HP:0000540Hypermetropia2BLOC1S3 CL E G H388552614077Hermansky-Pudlak syndrome 8614077C3888026OMIM142920914609762
HP:0000540HP:0000540Hypermetropia2CACNA1G CL E G H8913618087SPINOCEREBELLAR ATAXIA 42, EARLY-ONSET, SEVERE, WITH NEURODEVELOPMENTAL DEFICITS618087CN252698OMIM1121671394604065
HP:0000540HP:0000540Hypermetropia2CCDC47 CL E G H57003618268618268618268OMIM1520248560
HP:0000540HP:0000540Hypermetropia2CHAMP1 CL E G H283489616579Mental retardation, autosomal dominant 40616579C4225275OMIM11716820311616327
HP:0000540HP:0000540Hypermetropia2CHD3 CL E G H1107618205SNIJDERS BLOK-CAMPEAU SYNDROME618205OMIM110771918602120
HP:0000540HP:0000540Hypermetropia2CHMP1A CL E G H5119614961Pontocerebellar hypoplasia type 8614961C3554209OMIM131068740164010
HP:0000540HP:0000540Hypermetropia2CHST3 CL E G H9469245600Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects245600C3278404OMIM1392651971603799
HP:0000540HP:0000540Hypermetropia2CLDN16 CL E G H10686248250Primary hypomagnesemia248250C0268448OMIM1651882037603959
HP:0000540HP:0000540Hypermetropia2CNGA3 CL E G H126149382ORPHA11522482150600053
HP:0000540HP:0000540Hypermetropia2CNGB3 CL E G H5471449382ORPHA11264102153605080
HP:0000540HP:0000540Hypermetropia2CRB1 CL E G H23418172870Pigmented paravenous chorioretinal atrophy172870C1868310OMIM13475442343604210
HP:0000540HP:0000540Hypermetropia2CTCF CL E G H10664615502Mental retardation, autosomal dominant 21615502C3809686OMIM1189613723604167
HP:0000540HP:0000540Hypermetropia2DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM1116027030617048
HP:0000540HP:0000540Hypermetropia2DPF2 CL E G H5977618027COFFIN-SIRIS SYNDROME 7618027CN248780OMIM19149964601671
HP:0000540HP:0000540Hypermetropia2EIF2AK3 CL E G H94511667Dandy-Walker malformation with facial hemangiomaORPHA1811253255604032
HP:0000540HP:0000540Hypermetropia2EMC1 CL E G H23065616875Cerebellar atrophy, visual impairment, and psychomotor retardation616875C4225172OMIM1712028957616846
HP:0000540HP:0000540Hypermetropia2EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM163418138295
HP:0000540HP:0000540Hypermetropia2ERCC6 CL E G H2074133540Cockayne syndrome B133540C0751038OMIM11404993438609413
HP:0000540HP:0000540Hypermetropia2ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701993439609412
HP:0000540HP:0000540Hypermetropia2ERMARD CL E G H5578075857ORPHA1214521056615532
HP:0000540HP:0000540Hypermetropia2FAM111A CL E G H6390193325ORPHA194124725615292
HP:0000540HP:0000540Hypermetropia2FAM111A CL E G H63901127000Kenny-Caffey syndrome type 2127000C4316787OMIM194124725615292
HP:0000540HP:0000540Hypermetropia2FBXO11 CL E G H80204618089INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES618089CN252702OMIM1267713590607871
HP:0000540HP:0000540Hypermetropia2FGD1 CL E G H2245305400Aarskog syndrome305400C0175701OMIM1512763663300546
HP:0000540HP:0000540Hypermetropia2FKTN CL E G H2218253800Fukuyama congenital muscular dystrophy253800C0410174OMIM1594503622607440
HP:0000540HP:0000540Hypermetropia2FLCN CL E G H201163610883Chromosome 17, trisomy 17p11 2610883C2931246OMIM1215103627310607273
HP:0000540HP:0000540Hypermetropia2FOXL2 CL E G H668110100Blepharophimosis, ptosis, and epicanthus inversus110100C0220663OMIM12241661092605597
HP:0000540HP:0000540Hypermetropia2GATAD2B CL E G H57459615074Mental retardation, autosomal dominant 18615074C3554448OMIM1149630778614998
HP:0000540HP:0000540Hypermetropia2GNAT2 CL E G H278049382ORPHA116914394139340
HP:0000540HP:0000540Hypermetropia2HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM164824868605837
HP:0000540HP:0000540Hypermetropia2IFT52 CL E G H51098617102Short-rib thoracic dysplasia 16 with or without polydactyly617102C4310718OMIM153415901617094
HP:0000540HP:0000540Hypermetropia2IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13116109601491
HP:0000540HP:0000540Hypermetropia2IQSEC2 CL E G H23096309530Mental retardation, X-linked 1309530C2931498OMIM15753929059300522
HP:0000540HP:0000540Hypermetropia2KANSL1 CL E G H284058610443Koolen-de Vries syndrome610443C1864871OMIM17284024565612452
HP:0000540HP:0000540Hypermetropia2KDM5C CL E G H8242300534Mental retardation, syndromic, Claes-Jensen type, X-linked300534C1845243OMIM15632711114314690
HP:0000540HP:0000540Hypermetropia2KERA CL E G H11081217300Cornea plana 2217300C1857574OMIM115266309603288
HP:0000540HP:0000540Hypermetropia2KIAA1109 CL E G H84162617822ALKURAYA-KUCINSKAS SYNDROME617822CN737163OMIM1167126953611565
HP:0000540HP:0000540Hypermetropia2KIDINS220 CL E G H57498521390ORPHA1158429508615759
HP:0000540HP:0000540Hypermetropia2KIDINS220 CL E G H57498617296Spastic paraplegia, intellectual disability, nystagmus, and obesity617296C4284592OMIM1158429508615759
HP:0000540HP:0000540Hypermetropia2KIF11 CL E G H3832152950Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation152950C1835265OMIM1701726388148760
HP:0000540HP:0000540Hypermetropia2LCA5 CL E G H167691604537Leber congenital amaurosis 5604537C1858301OMIM14924631923611408
HP:0000540HP:0000540Hypermetropia2LMNA CL E G H4000740Aortic arch interruptionORPHA157411526636150330
HP:0000540HP:0000540Hypermetropia2MAG CL E G H4099459056ORPHA14896783159460
HP:0000540HP:0000540Hypermetropia2MAG CL E G H4099616680Spastic paraplegia 75, autosomal recessive616680C4225250OMIM14896783159460
HP:0000540HP:0000540Hypermetropia2MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM1204536814605283
HP:0000540HP:0000540Hypermetropia2MARK3 CL E G H4140618283618283618283OMIM12546897602678
HP:0000540HP:0000540Hypermetropia2MBD5 CL E G H55777156200Mental retardation, autosomal dominant 1156200C1969562OMIM19166420444611472
HP:0000540HP:0000540Hypermetropia2MFRP CL E G H83552611040Microphthalmia, isolated 5611040C1970236OMIM13125918121606227
HP:0000540HP:0000540Hypermetropia2MITF CL E G H4286103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM1612407105156845
HP:0000540HP:0000540Hypermetropia2MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM1323317114603856
HP:0000540HP:0000540Hypermetropia2MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000540HP:0000540Hypermetropia2NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM123147675602117
HP:0000540HP:0000540Hypermetropia2NEK1 CL E G H4750263520Short rib-polydactyly syndrome, Majewski type263520C0024507OMIM1303117744604588
HP:0000540HP:0000540Hypermetropia2NFIX CL E G H4784614753Sotos syndrome 2614753C3553660OMIM11041547788164005
HP:0000540HP:0000540Hypermetropia2NMNAT1 CL E G H64802608553Leber congenital amaurosis 9608553C1837873OMIM17611217877608700
HP:0000540HP:0000540Hypermetropia2NOG CL E G H9241184460Stapes ankylosis with broad thumb and toes184460C1866656OMIM164477866602991
HP:0000540HP:0000540Hypermetropia2NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13431190610922
HP:0000540HP:0000540Hypermetropia2NSD1 CL E G H64324117550Sotos syndrome 1117550CN035106OMIM152589614234606681
HP:0000540HP:0000540Hypermetropia2PACS2 CL E G H23241618067EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 66618067CN252658OMIM129223794610423
HP:0000540HP:0000540Hypermetropia2PCNT CL E G H5116210720Microcephalic osteodysplastic primordial dwarfism type 2210720C0432246OMIM18888516068605925
HP:0000540HP:0000540Hypermetropia2PDE6C CL E G H514649382ORPHA1582208787600827
HP:0000540HP:0000540Hypermetropia2PDE6H CL E G H514949382ORPHA12608790601190
HP:0000540HP:0000540Hypermetropia2PDGFRB CL E G H5159601812Premature aging syndrome, Penttinen type601812C1866182OMIM1241508804173410
HP:0000540HP:0000540Hypermetropia2PHIP CL E G H55023617991DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES617991CN248510OMIM1297815673612870
HP:0000540HP:0000540Hypermetropia2PIGT CL E G H51604615398Multiple congenital anomalies-hypotonia-seizures syndrome 3615398C3809356OMIM1127214938610272
HP:0000540HP:0000540Hypermetropia2POGZ CL E G H23126616364White-sutton syndrome616364C4225351OMIM15422718801614787
HP:0000540HP:0000540Hypermetropia2POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17550219743607439
HP:0000540HP:0000540Hypermetropia2PPM1D CL E G H8493617450Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold617450C4479517OMIM163849277605100
HP:0000540HP:0000540Hypermetropia2PQBP1 CL E G H10084309500Renpenning syndrome 1309500C0796135OMIM1222289330300463
HP:0000540HP:0000540Hypermetropia2PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM131130089600161
HP:0000540HP:0000540Hypermetropia2PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM132233235611215
HP:0000540HP:0000540Hypermetropia2RAB11B CL E G H9230617807NEURODEVELOPMENTAL DISORDER WITH ATAXIC GAIT, ABSENT SPEECH, AND DECREASED CORTICAL WHITE MATTER617807C4540498OMIM12149761604198
HP:0000540HP:0000540Hypermetropia2RAD50 CL E G H10111613078Nijmegen breakage syndrome-like disorder613078C2751318OMIM19522069816604040
HP:0000540HP:0000540Hypermetropia2RPGR CL E G H610349382ORPHA124566210295312610
HP:0000540HP:0000540Hypermetropia2RS1 CL E G H6247312700Juvenile retinoschisis312700C0271091OMIM127945410457300839
HP:0000540HP:0000540Hypermetropia2SIN3A CL E G H25942613406Witteveen-kolk syndrome613406C3150674OMIM11611619353607776
HP:0000540HP:0000540Hypermetropia2SLC25A24 CL E G H29957612289Fontaine progeroid syndrome612289C2676780OMIM123520662608744
HP:0000540HP:0000540Hypermetropia2SLC6A8 CL E G H6535300352Creatine deficiency, X-linked300352C1845862OMIM113954211055300036
HP:0000540HP:0000540Hypermetropia2SMAD4 CL E G H4089139210Myhre syndrome139210C0796081OMIM114712576770600993
HP:0000540HP:0000540Hypermetropia2SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM131333020609837
HP:0000540HP:0000540Hypermetropia2SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM131433067605436
HP:0000540HP:0000540Hypermetropia2SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM12538511164182279
HP:0000540HP:0000540Hypermetropia2SON CL E G H6651500150ORPHA12822411183182465
HP:0000540HP:0000540Hypermetropia2SON CL E G H6651617140ZTTK syndrome617140C4310696OMIM12822411183182465
HP:0000540HP:0000540Hypermetropia2TBC1D23 CL E G H55773617695PONTOCEREBELLAR HYPOPLASIA, TYPE 11617695C4540164OMIM192525622617687
HP:0000540HP:0000540Hypermetropia2TCTN2 CL E G H79867616654Joubert syndrome 24616654C4084841OMIM11520325774613846
HP:0000540HP:0000540Hypermetropia2TRPV4 CL E G H59341113500Brachyrachia (short spine dysplasia)113500C0432227OMIM18253918083605427
HP:0000540HP:0000540Hypermetropia2TYR CL E G H7299103470Albinism, ocular, with sensorineural deafness103470C1863198OMIM144522612442606933
HP:0000540HP:0000540Hypermetropia2USP9X CL E G H8239300968Mental retardation, X-linked 99, syndromic, female-restricted300968C4225416OMIM12826912632300072
HP:0000540HP:0000540Hypermetropia2WDR19 CL E G H57728614378Cranioectodermal dysplasia 4614378C3280616OMIM14529418340608151
HP:0000540HP:0000540Hypermetropia2YME1L1 CL E G H10730617302Optic atrophy 11617302C4310628OMIM113612843607472
HP:0000540HP:0000540Hypermetropia2ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA13413612877606480
HP:0000540HP:0000540Hypermetropia2ZNF148 CL E G H7707617260Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies617260C4310644OMIM144212933601897
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000540HP:0000540Hypermetropia0COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0000540HP:0000540Hypermetropia0CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM0541802514116806
HP:0000540HP:0000540Hypermetropia0GNB3 CL E G H2784617024Night blindness, congenital stationary, type 1h617024C4310758OMIM09864400139130
HP:0000540HP:0000540Hypermetropia0LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM0292996715602091
HP:0000540HP:0000540Hypermetropia0MSX2 CL E G H4488604757Craniosynostosis 2604757C1858160OMIM0261057392123101
HP:0000540HP:0000540Hypermetropia0NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM04415615625608025
HP:0000540HP:0000540Hypermetropia0NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM064477866602991
HP:0000540HP:0000540Hypermetropia0PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM03232926270613629
HP:0000540HP:0000540Hypermetropia0SHANK3 CL E G H8535848652ORPHA019436614294606230
HP:0000540HP:0000540Hypermetropia0SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM017829256613667
HP:0000540HP:0000540Hypermetropia0SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM04424516974611421
HP:0000540HP:0000540Hypermetropia0TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM07520812423602280
HP:0000540HP:0000540Hypermetropia1COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0000540HP:0000540Hypermetropia1CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM0541802514116806
HP:0000540HP:0000540Hypermetropia1GNB3 CL E G H2784617024Night blindness, congenital stationary, type 1h617024C4310758OMIM09864400139130
HP:0000540HP:0000540Hypermetropia1LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM0292996715602091
HP:0000540HP:0000540Hypermetropia1MSX2 CL E G H4488604757Craniosynostosis 2604757C1858160OMIM0261057392123101
HP:0000540HP:0000540Hypermetropia1NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM04415615625608025
HP:0000540HP:0000540Hypermetropia1NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM064477866602991
HP:0000540HP:0000540Hypermetropia1PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM03232926270613629
HP:0000540HP:0000540Hypermetropia1SHANK3 CL E G H8535848652ORPHA019436614294606230
HP:0000540HP:0000540Hypermetropia1SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM017829256613667
HP:0000540HP:0000540Hypermetropia1SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM04424516974611421
HP:0000540HP:0000540Hypermetropia1TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM07520812423602280
HP:0000540HP:0000540Hypermetropia2COL4A1 CL E G H1282607595Brain small vessel disease with hemorrhage607595C1843512OMIM01144982202120130
HP:0000540HP:0000540Hypermetropia2CTNNB1 CL E G H1499615075Mental retardation, autosomal dominant 19615075C3554449OMIM0541802514116806
HP:0000540HP:0000540Hypermetropia2GNB3 CL E G H2784617024Night blindness, congenital stationary, type 1h617024C4310758OMIM09864400139130
HP:0000540HP:0000540Hypermetropia2LTBP2 CL E G H4053251750Microspherophakia251750C1562061OMIM0292996715602091
HP:0000540HP:0000540Hypermetropia2MSX2 CL E G H4488604757Craniosynostosis 2604757C1858160OMIM0261057392123101
HP:0000540HP:0000540Hypermetropia2NBAS CL E G H51594614800Short stature, optic nerve atrophy, and Pelger-Huet anomaly614800C3541319OMIM04415615625608025
HP:0000540HP:0000540Hypermetropia2NOG CL E G H9241611377Brachydactyly type B2611377C1969652OMIM064477866602991
HP:0000540HP:0000540Hypermetropia2PIEZO2 CL E G H63895108145Oculomelic amyoplasia108145C1862472OMIM03232926270613629
HP:0000540HP:0000540Hypermetropia2SHANK3 CL E G H8535848652ORPHA019436614294606230
HP:0000540HP:0000540Hypermetropia2SOBP CL E G H55084613671Mental retardation, anterior maxillary protrusion, and strabismus613671C3150924OMIM017829256613667
HP:0000540HP:0000540Hypermetropia2SRCAP CL E G H10847136140Floating-Harbor syndrome136140C0729582OMIM04424516974611421
HP:0000540HP:0000540Hypermetropia2TULP1 CL E G H7287613843Leber congenital amaurosis 15613843C3151206OMIM07520812423602280


Genes (146) :ADNP ARSG ATF6 ATP6AP1 ATP6V1A B3GAT3 BAZ1B BCL11B BEST1 BLOC1S3 CACNA1G CCDC47 CDH23 CEP78 CHAMP1 CHD3 CHMP1A CHST3 CIB2 CLDN16 CLIP2 CLRN1 CNGA3 CNGB3 COL4A1 CRB1 CSTA CTCF CTNNB1 DNAJC21 DPF2 EIF2AK3 ELN EMC1 EPRS ERCC6 ERCC8 ERMARD FAM111A FBXO11 FGD1 FGF3 FKTN FLCN FOXL2 GABRD GATAD2B GJA1 GNAT2 GNB3 GTF2I GTF2IRD1 HARS HERC2 IFT122 IFT43 IFT52 IPW IQSEC2 KANSL1 KCNAB2 KDM5C KERA KIAA1109 KIDINS220 KIF11 LCA5 LIMK1 LMNA LTBP2 MAG MAGEL2 MARK3 MBD5 MFRP MITF MKRN3 MKRN3-AS1 MSX2 MYO7A NBAS NDN NEK1 NFIX NMNAT1 NOG NPAP1 NSD1 OGT PACS2 PCDH15 PCNT PCYT1A PDE6C PDE6H PDGFRB PHIP PIEZO2 PIGT POGZ POMT2 PPM1D PQBP1 PRDM16 PRSS56 PWAR1 PWRN1 RAB11B RAD50 RAI1 RERE RFC2 RMRP RPGR RPGRIP1 RS1 SHANK3 SIN3A SKI SLC25A24 SLC6A8 SMAD4 SNORD115-1 SNORD116-1 SNRPN SOBP SON SRCAP TBC1D23 TBL2 TCTN2 TGM5 TMEM98 TRNS2 TRPV4 TUBB4B TULP1 TYR USH1C USH1G USP9X WDR19 WDR35 YME1L1 ZMPSTE24 ZNF148

Diseases (110) :615873 49382 300972 618012 245600 618092 611809 614077 618087 618268 616579 618205 614961 248250 607595 172870 615502 615075 617052 618027 1667 616875 617951 133540 216400 75857 93325 127000 618089 305400 253800 610883 110100 615074 617024 176270 617102 309530 610443 300534 217300 617822 521390 617296 152950 604537 740 251750 459056 616680 618283 156200 611040 103470 604757 614800 263520 614753 608553 611377 184460 117550 618067 210720 601812 617991 108145 615398 616364 613150 617450 309500 617807 613078 312700 48652 613406 612289 300352 139210 613671 500150 617140 136140 617695 616654 113500 613843 300968 614378 617302 617260 231183 904 231169 613835 263534 90024 1606 2710 1515 35612 300997 85167 613517 1713 175 613826 2588 617879
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.