Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of the eye (HP:0000478)help
Parent Node:
expand
Abnormal eye physiology (HP:0012373)help
..Starting node
..expand
Abnormality of refraction (HP:0000539)help
Term ID: 539
Name: Abnormality of refraction
Synonym:
Definition: An abnormality in the process of focusing of light by the eye in order to produce a sharp image on the retina.
Comments:
Reference: HP:0000539
Genes and Diseases:
 
       Child Nodes:
........expandAstigmatism (HP:0000483) help
................... HP:0000484 Hyperopic astigmatism
................... HP:0025612 Corneal astigmatism
................... HP:0031787 Oblique astigmatism
................... HP:0031788 With the rule astigmatism
................... HP:0031789 Against the rule astigmatism
................... HP:0031790 Mixed astigmatism
................... HP:0031791 Lenticular astigmatism
................... HP:0031792 Irregular astigmatism
................... HP:0500041 Myopic astigmatism
........expandHypermetropia (HP:0000540) help
................... HP:0008499 High hypermetropia
................... HP:0031728 Mild hypermetropia
................... HP:0031729 Moderate hypermetropia
........expandMyopia (HP:0000545) help
................... HP:0008012 Congenital myopia
................... HP:0011003 High myopia
................... HP:0025573 Mild myopia
................... HP:0031624 Moderate myopia
................... HP:0031730 Axial myopia
................... HP:0500066 Latent myopia
........expandAnisometropia (HP:0012803) help

 Sister Nodes: 
..expandAbnormal extraocular muscle physiology (HP:0025590) help
..expandAbnormal eyelid physiology (HP:0031879) help
..expandAbnormal intraocular pressure (HP:0012632) help
..expandAbnormal pupillary function (HP:0007686) help
..expandAbnormal visual accommodation (HP:0030800) help
..expandAbnormal visual electrophysiology (HP:0030453) help
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of vision (HP:0000504) help
..expandAsthenopia (HP:0031590) help
..expandCongenital stationary cone dysfunction (HP:0030637) help
..expandGlaucoma (HP:0000501) help
..expandHemorrhage of the eye (HP:0011885) help
..expandInflammatory abnormality of the eye (HP:0100533) help
..expandLacrimation abnormality (HP:0000632) help
..expandOcular pain (HP:0200026) help
..expandPtosis (HP:0000508) help
..expandStaring gaze (HP:0025401) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000539HP:0000539Abnormality of refraction0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13649482348600140
HP:0000539HP:0000539Abnormality of refraction0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11076283373602700
HP:0000539HP:0000539Abnormality of refraction1CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13649482348600140
HP:0000539HP:0000539Abnormality of refraction1EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11076283373602700
HP:0000539HP:0000539Abnormality of refraction2CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13649482348600140
HP:0000539HP:0000539Abnormality of refraction2EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11076283373602700
HP:0000539HP:0000539Abnormality of refraction3CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13649482348600140
HP:0000539HP:0000539Abnormality of refraction3EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11076283373602700
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000539HP:0000539Abnormality of refraction0BAP1 CL E G H831439044ORPHA01191483950603089
HP:0000539HP:0000539Abnormality of refraction0CYSLTR2 CL E G H5710539044ORPHA026318274605666
HP:0000539HP:0000539Abnormality of refraction0ELN CL E G H2006194050Williams syndrome194050C0175702OMIM01276313327130160
HP:0000539HP:0000539Abnormality of refraction0GNA11 CL E G H276739044ORPHA0111284379139313
HP:0000539HP:0000539Abnormality of refraction0GNAQ CL E G H277639044ORPHA06724390600998
HP:0000539HP:0000539Abnormality of refraction0MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM0620012744605678
HP:0000539HP:0000539Abnormality of refraction0SF3B1 CL E G H2345139044ORPHA046710768605590
HP:0000539HP:0000539Abnormality of refraction1BAP1 CL E G H831439044ORPHA01191483950603089
HP:0000539HP:0000539Abnormality of refraction1CYSLTR2 CL E G H5710539044ORPHA026318274605666
HP:0000539HP:0000539Abnormality of refraction1ELN CL E G H2006194050Williams syndrome194050C0175702OMIM01276313327130160
HP:0000539HP:0000539Abnormality of refraction1GNA11 CL E G H276739044ORPHA0111284379139313
HP:0000539HP:0000539Abnormality of refraction1GNAQ CL E G H277639044ORPHA06724390600998
HP:0000539HP:0000539Abnormality of refraction1MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM0620012744605678
HP:0000539HP:0000539Abnormality of refraction1SF3B1 CL E G H2345139044ORPHA046710768605590
HP:0000539HP:0000539Abnormality of refraction2BAP1 CL E G H831439044ORPHA01191483950603089
HP:0000539HP:0000539Abnormality of refraction2CYSLTR2 CL E G H5710539044ORPHA026318274605666
HP:0000539HP:0000539Abnormality of refraction2ELN CL E G H2006194050Williams syndrome194050C0175702OMIM01276313327130160
HP:0000539HP:0000539Abnormality of refraction2GNA11 CL E G H276739044ORPHA0111284379139313
HP:0000539HP:0000539Abnormality of refraction2GNAQ CL E G H277639044ORPHA06724390600998
HP:0000539HP:0000539Abnormality of refraction2MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM0620012744605678
HP:0000539HP:0000539Abnormality of refraction2SF3B1 CL E G H2345139044ORPHA046710768605590
HP:0000539HP:0000539Abnormality of refraction3BAP1 CL E G H831439044ORPHA01191483950603089
HP:0000539HP:0000539Abnormality of refraction3CYSLTR2 CL E G H5710539044ORPHA026318274605666
HP:0000539HP:0000539Abnormality of refraction3ELN CL E G H2006194050Williams syndrome194050C0175702OMIM01276313327130160
HP:0000539HP:0000539Abnormality of refraction3GNA11 CL E G H276739044ORPHA0111284379139313
HP:0000539HP:0000539Abnormality of refraction3GNAQ CL E G H277639044ORPHA06724390600998
HP:0000539HP:0000539Abnormality of refraction3MLXIPL CL E G H51085194050Williams syndrome194050C0175702OMIM0620012744605678
HP:0000539HP:0000539Abnormality of refraction3SF3B1 CL E G H2345139044ORPHA046710768605590


Genes (418) :ABCC6 ACOX1 ACSL4 ADAMTS10 ADAMTS17 ADAMTS2 ADAMTSL1 ADAMTSL4 ADGRV1 ADNP AGBL5 AGK AKT1 ALDH18A1 ALDH3A2 AMMECR1 ANKRD11 ANTXR1 AP3D1 ARCN1 ARHGEF2 ARID1B ARSG ASXL1 ATAD3A ATF6 ATP6AP1 ATP6V0A2 ATP6V1A ATP6V1E1 ATRX B3GALNT2 B3GALT6 B3GAT3 B3GLCT BAP1 BAZ1B BBS1 BCL11B BEST1 BFSP2 BLOC1S3 BMP4 BPTF BRAF BRCA1 BRCA2 BRIP1 BTD C12ORF57 C1QBP C8ORF37 CABP4 CACNA1F CACNA1G CACNA2D4 CANT1 CASK CBS CC2D2A CCDC47 CCNQ CDC45 CDH23 CEP78 CHAMP1 CHD3 CHD4 CHM CHMP1A CHRDL1 CHST14 CHST3 CIB2 CLDN16 CLDN19 CLIP2 CLRN1 CNGA3 CNGB3 COL11A1 COL11A2 COL18A1 COL1A1 COL2A1 COL4A1 COL4A3 COL4A4 COL4A5 COL5A1 COL5A2 COL9A1 COL9A2 COL9A3 COX7B CRB1 CREBBP CRIPT CRYAA CRYBA2 CRYBA4 CRYBB1 CRYBB2 CRYGC CRYGD CSPP1 CSTA CTCF CTNNB1 CYP4V2 CYSLTR2 DAG1 DEAF1 DNAJC21 DPF2 DPYD EBF3 EED EIF2AK3 EIF2S3 ELN ELOVL4 ELP1 EMC1 ENPP1 EP300 EPHA2 EPRS ERBB3 ERCC4 ERCC6 ERCC8 ERMARD EXOSC2 FAM111A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBN2 FBXO11 FGD1 FGF3 FGFR3 FKBP14 FKRP FKTN FLCN FLII FOXL2 GABRD GATAD2B GJA1 GJA8 GJC2 GLRB GMPPB GNA11 GNAQ GNAT1 GNAT2 GNB3 GNPTAB GNPTG GPAA1 GPR143 GPR179 GRK1 GRM6 GTF2I GTF2IRD1 GTPBP2 GZF1 HACE1 HADHA HARS HDAC8 HERC2 HIST1H1E HSPG2 IFIH1 IFT122 IFT43 IFT52 IGF1 IPW IQSEC2 IRX5 JAG1 KANSL1 KCNAB2 KCNE5 KCNH1 KCNV2 KDM5B KDM5C KERA KIAA0586 KIAA1109 KIDINS220 KIF11 KLHL7 KLLN KMT2A KMT2B KRAS LAMA1 LAMB2 LARGE1 LCA5 LIG4 LIMK1 LMNA LOX LRIT3 LRP2 LRPAP1 LTBP2 MAD2L2 MAF MAG MAGEL2 MAP2K1 MAP2K2 MARK3 MBD5 MBTPS2 MFRP MIR184 MITF MKRN3 MKRN3-AS1 MLXIPL MSX2 MYO5A MYO7A MYOC NBAS NDN NDUFB11 NEK1 NFIX NIPBL NMNAT1 NOG NONO NOTCH2 NPAP1 NRAS NSD1 NSUN2 NT5C2 NYX OAT OCA2 OGT OPN1LW OPN1MW OPTN P3H2 P4HA2 PACS1 PACS2 PALB2 PAX2 PCDH15 PCNT PCYT1A PDE6B PDE6C PDE6H PDGFRB PDZD7 PHIP PIEZO2 PIGT PIK3CA PIK3R1 PITX2 PLOD1 PLOD3 POGZ POLR1C POLR3A POLR3B POMGNT1 POMT1 POMT2 PPM1D PPP2R5D PQBP1 PRDM16 PRDM5 PRIMPOL PRMT7 PRSS56 PSMD12 PTEN PTPN11 PWAR1 PWRN1 RAB11B RAB28 RAD21 RAD50 RAD51 RAD51C RAI1 RECQL4 RERE RFC2 RFWD3 RHO RIN2 RMRP RNU4ATAC RP1 RP2 RPGR RPGRIP1 RPL10 RS1 SAG SCO2 SDHB SDHC SDHD SEC23B SETD5 SF3B1 SH2B1 SHANK3 SIM1 SIN3A SKI SLC12A6 SLC24A1 SLC25A24 SLC25A4 SLC2A10 SLC39A5 SLC39A8 SLC6A8 SLITRK6 SLX4 SMAD4 SMARCAL1 SMC1A SMC3 SMS SNORD115-1 SNORD116-1 SNRPN SOBP SON SOX5 SRCAP TAF1 TBC1D23 TBC1D24 TBC1D7 TBCE TBL2 TCF4 TCTN2 TEAD1 TFAP2A TFAP2B TGM5 THOC6 TIMM8A TMEM94 TMEM98 TRAPPC11 TRIM37 TRIT1 TRNS2 TRNT1 TRPM1 TRPV4 TTC8 TUB TUBB4B TULP1 TWIST2 TYR UBE2T UBE3A UBE3B UCHL1 USH1C USH1G USH2A USP9X VARS VCAN VPS13B VSX1 WAC WDR19 WDR35 WHRN XRCC2 XYLT2 YME1L1 ZMPSTE24 ZNF148 ZNF408 ZNF469 ZNF644 ZSWIM6

Diseases (390) :39044 180849 194050 758 177850 2971 86818 613195 225410 521445 231178 615873 617023 1369 212350 201 744 615109 219150 816 261250 2067 284804 617164 617523 135900 231183 97297 605039 496790 617183 49382 300972 219200 618012 847 588 615181 93359 271640 245600 261540 904 209900 618092 611809 611597 614077 139471 607932 529962 115150 1340 163950 84 79241 218340 617713 617406 178333 300476 300600 618087 251450 163937 394 236200 612285 618268 140952 617063 616579 618205 617159 180 614961 309300 601776 248250 2196 248190 250984 560 90654 154780 604841 3450 1571 287 166011 90653 93316 93346 94068 485 132450 156550 183900 184250 108300 609508 607595 104200 203780 301050 130000 614134 300887 172870 1377 115900 397715 615502 615075 616538 819 617052 618027 293948 617330 617561 1667 300148 1764 616875 116600 617951 278760 133540 216400 75857 617763 93325 127000 609053 2462 154700 121050 618089 305400 300179 614557 613153 236670 253800 272 610883 110100 615074 2710 257850 608804 614619 617024 252605 617810 54 614565 257270 617988 464282 616756 5 199 300882 176270 617537 800 255800 182250 1515 218330 617102 73272 309530 118450 610443 135500 610356 618109 300534 217300 617822 521390 617296 2526 152950 617284 615278 615960 614199 604537 235 740 617168 615058 2143 251750 614819 459056 616680 615547 615280 618283 156200 2273 611040 614303 103470 604757 33445 137750 614800 300952 263520 614753 122470 608553 611377 184460 300967 955 613224 228415 117550 320396 613162 310500 258870 203200 303700 137760 615009 618067 1475 210720 85167 601812 617991 108145 615398 615108 269880 1900 225400 612394 616364 616494 447896 607694 614381 613151 613157 253280 613155 613150 613156 617450 616355 309500 614170 615420 617157 2969 158350 617807 613078 218600 175 1824 180100 312600 304020 300998 312700 608908 615761 261197 48652 171829 613406 182212 1496 2095 612289 3342 615946 616721 300352 139210 242900 610759 613671 500150 617140 313892 616803 136140 300966 617695 79500 248000 2323 2896 610954 616654 108985 113620 46627 613680 304700 618316 369847 615356 253250 617873 616959 613216 113500 616188 613843 920 203100 105830 2707 244450 615491 300968 617802 143200 193 216550 148300 616708 614376 614378 85194 617302 617260 616468 229200 603671 1827 3449 277600 225200 2834 357074 215 231169 262300 440354 267750 614284 613835 615789 263534 210370 614457 607598 284979 616914 608328 90024 616482 1606 252600 300814 617662 611174 222448 615431 35612 300997 614292 617238 180550 90354 613517 615374 1713 217335 613826 221200 2588 309583 220500 613464 617879 614167
 

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