Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the eye (HP:0000478)help
Parent Node:
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Abnormal eye physiology (HP:0012373)help
..Starting node
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Abnormal visual electrophysiology (HP:0030453)help
Term ID: 30453
Name: Abnormal visual electrophysiology
Synonym:
Definition:
Comments:
Reference: HP:0030453
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal electroretinogram (HP:0000512) help
................... HP:0000550 Undetectable electroretinogram
................... HP:0030466 Abnormal full-field electroretinogram
................... HP:0030467 Abnormal pattern electroretinogram
................... HP:0030468 Abnormal multifocal electroretinogram
........expandAbnormality of visual evoked potentials (HP:0000649) help
................... HP:0007928 Abnormal flash visual evoked potentials
................... HP:0007965 Undetectable visual evoked potentials
................... HP:0030455 Abnormality of pattern visual evoked potentials
........expandAbnormal electrooculogram (HP:0030454) help
................... HP:0008179 Decreased Arden ratio of electrooculogram
................... HP:0031155 Increased Arden ratio of electrooculogram

 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
..expandAbnormality of eye movement (HP:0000496) help
..expandAbnormality of refraction (HP:0000539) 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:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030453HP:0030453Abnormal visual electrophysiology0 CL E G H
HP:0030453HP:0030453Abnormal visual electrophysiology1 CL E G H
HP:0030453HP:0030453Abnormal visual electrophysiology2 CL E G H
HP:0030453HP:0030453Abnormal visual electrophysiology3 CL E G H
HP:0030453HP:0030453Abnormal visual electrophysiology4 CL E G H
HP:0030453HP:0030453Abnormal visual electrophysiology5 CL E G H
HP:0030453HP:0030453Abnormal visual electrophysiology6 CL E G H


Genes (215) :AAAS ABCA4 ACOX1 ADAR ADGRV1 AGBL5 AGK AHI1 AHR AIPL1 ALG3 ARHGEF18 ARHGEF2 ARL2BP ARL3 ARL6 ARSA ARSG ASPA ATF6 ATP6 ATXN1 ATXN3 BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BEST1 C8ORF37 CA4 CABP4 CACNA1F CACNA2D4 CAPN5 CDH23 CDHR1 CEP104 CEP290 CEP78 CERKL CHM CIB2 CLCN7 CLN3 CLRN1 CNGA1 CNGA3 CNGB1 CNGB3 COX1 COX2 COX3 CRB1 CRX DHDDS DHX38 ELOVL4 EMC1 ERCC6 ERCC8 EYS FAM161A FLVCR1 FSCN2 FXN GALC GDF6 GJC2 GNAT2 GNB5 GUCA1A GUCA1B GUCY2D HADHA HARS HGSNAT HSD17B4 IDH3B IFT140 IFT172 IFT27 IFT88 IMPDH1 IMPG2 IQCB1 KCNJ13 KIAA1549 KIZ KLHL7 LAMA2 LARGE1 LCA5 LRAT LZTFL1 MAK MCOLN1 MERTK MFN2 MFRP MKKS MKS1 MYO7A ND1 ND4 ND5 ND6 NDRG1 NEK2 NMNAT1 NOTCH3 NPHP1 NR2E3 NRL NUP62 OFD1 OPA1 OPN1LW OPN1MW OPN1SW PCARE PCDH15 PCYT1A PDE6A PDE6B PDE6C PDE6D PDE6G PDE6H PDZD7 PEX1 PEX12 PGAP1 PIEZO2 PLA2G6 PNPLA6 POGZ POLG POMGNT1 PPT1 PRCD PROM1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSAP RAB18 RAB3GAP1 RAB3GAP2 RBP3 RD3 RDH12 REEP6 RGR RHO RLBP1 RNF216 ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RPGRIP1 RS1 SAG SCAPER SDCCAG8 SEMA4A SLC25A22 SLC25A4 SLC7A14 SNRNP200 SNX10 SPATA7 SUCLA2 TBC1D20 TCIRG1 TIMM8A TIMP3 TNFSF11 TOPORS TPP1 TRIM32 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TRPM1 TTC8 TTPA TUB TULP1 TYR USH1C USH1G USH2A VSX1 WDPCP WHRN WWOX ZNF408 ZNF513 ZNHIT3

Diseases (129) :231550 791 601718 827 2971 231178 1369 608629 65 617523 110 309263 309271 309256 231183 314911 49382 109150 613194 153700 178333 193235 231169 616781 180 667 1871 550 120970 614457 616875 133540 216400 229300 320401 617173 5 258 578 601152 601455 125310 1215 16 613428 613810 214100 266510 615802 1154 108145 256600 1173 616364 203700 608133 2510 613731 607475 792 609304 1933 304700 136900 609923 613216 96 79431 613809 614195 616211 98755 204200 613835 613829 602772 609033 245200 261515 615780 604537 613341 276900 268100 613750 615665 253280 256730 610599 612095 614225 613587 613826 618195 204500 600132 260565 300476 611040 190900 613801 613464 613617 264470 225154 604393 601110 611809 608380 614180 204000 612572 180105 608840 252650 611131 125250 165500 613769 610445 180100 180104 204100 608194 613758 617406 610427 610478 312700
 

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