Human Phenotype Ontology 
Grandparent Node:
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Abnormal visual electrophysiology (HP:0030453)help
Parent Node:
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Abnormal electroretinogram (HP:0000512)help
..Starting node
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Abnormal full-field electroretinogram (HP:0030466)help
Term ID: 30466
Name: Abnormal full-field electroretinogram
Synonym:
Definition:
Comments:
Reference: HP:0030466
Genes and Diseases:
 
       Child Nodes:
........expandAbnormal light-adapted electroretinogram (HP:0008275) help
................... HP:0030465 Undetectable light-adapted electroretinogram
................... HP:0030472 Abnormal light-adapted single flash electroretinogram
................... HP:0030473 Abnormal light-adapted flicker electroretinogram
........expandAbnormal light- and dark-adapted electroretinogram (HP:0008323) help
................... HP:0000654 Decreased light- and dark-adapted electroretinogram amplitude
................... HP:0007688 Undetectable light- and dark-adapted electroretinogram
........expandAbnormal dark-adapted electroretinogram (HP:0030469) help
................... HP:0030470 Abnormal dark-adapted bright flash electroretinogram
................... HP:0030471 Abnormal dark-adapted dim flash electroretinogram
................... HP:0030474 Undetectable dark-adapted electroretinogram

 Sister Nodes: 
..expandAbnormal multifocal electroretinogram (HP:0030468) help
..expandAbnormal pattern electroretinogram (HP:0030467) help
..expandUndetectable electroretinogram (HP:0000550) 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:0030466HP:0030466Abnormal full-field electroretinogram0 CL E G H
HP:0030466HP:0030469Abnormal dark-adapted electroretinogram1 CL E G H
HP:0030466HP:0008323Abnormal light- and dark-adapted electroretinogram1 CL E G H
HP:0030466HP:0008275Abnormal light-adapted electroretinogram1 CL E G H
HP:0030466HP:0007688Undetectable light- and dark-adapted electroretinogram2 CL E G H
HP:0030466HP:0030470Abnormal dark-adapted bright flash electroretinogram2 CL E G H
HP:0030466HP:0030465Undetectable light-adapted electroretinogram2 CL E G H
HP:0030466HP:0000654Decreased light- and dark-adapted electroretinogram amplitude2 CL E G H
HP:0030466HP:0030473Abnormal light-adapted flicker electroretinogram2 CL E G H
HP:0030466HP:0030471Abnormal dark-adapted dim flash electroretinogram2 CL E G H
HP:0030466HP:0030474Undetectable dark-adapted electroretinogram2 CL E G H
HP:0030466HP:0030472Abnormal light-adapted single flash electroretinogram2 CL E G H
HP:0030466HP:0030480Abnormal timing of light-adapted flicker electroretinogram3 CL E G H
HP:0030466HP:0030475Abnormal timing of dark-adapted dim flash electroretinogram3 CL E G H
HP:0030466HP:0030479Abnormal amplitude of light-adapted flicker electroretinogram3 CL E G H
HP:0030466HP:0030482Abnormal timing of light-adapted single flash electroretinogram3 CL E G H
HP:0030466HP:0030476Abnormal amplitude of dark-adapted dim flash electroretinogram3 CL E G H
HP:0030466HP:0030481Abnormal amplitude of light-adapted single flash electroretinogram3 CL E G H
HP:0030466HP:0030478Abnormal amplitude of dark-adapted bright flash electroretinogram3 CL E G H
HP:0030466HP:0030477Abnormal timing of dark-adapted bright flash electroretinogram3 CL E G H
HP:0030466HP:0030484Supernormal dark-adapted bright flash electroretinogram b-wave4 CL E G H
HP:0030466HP:0030483Reduced amplitude of dark-adapted bright flash electroretinogram a-wave4 CL E G H
HP:0030466HP:0007984Electronegative electroretinogram4 CL E G H


Genes (35) :ACOX1 ADAR AIPL1 ALG3 ATP6 BEST1 C8ORF37 CABP4 CACNA1F CACNA2D4 CERKL CLRN1 GUCY2D IDH3B IMPDH1 LARGE1 LRAT MCOLN1 MFRP NR2E3 NUP62 OPN1SW PDE6B POMGNT1 PPT1 RGR RHO RP1 RP9 RPE65 RPGRIP1 RS1 SAG TTC8 ZNF513

Diseases (33) :300476 611040 190900 613801 613464 613617 264470 225154 604393 601110 611809 608380 614180 204000 612572 180105 608840 613341 252650 611131 253280 256730 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 August 2021 release.