Human Phenotype Ontology 
Grandparent Node:
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Abnormal electroretinogram (HP:0000512)help
Parent Node:
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Abnormal full-field electroretinogram (HP:0030466)help
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Abnormal light-adapted electroretinogram (HP:0008275)help
Term ID: 8275
Name: Abnormal light-adapted electroretinogram
Synonym: Abnormal cone-mediated electroretinogram
Definition:
Comments:
Reference: HP:0008275
Genes and Diseases:
 
       Child Nodes:
........expandUndetectable light-adapted electroretinogram (HP:0030465) help
........expandAbnormal light-adapted single flash electroretinogram (HP:0030472) help
................... HP:0030481 Abnormal amplitude of light-adapted single flash electroretinogram
................... HP:0030482 Abnormal timing of light-adapted single flash electroretinogram
........expandAbnormal light-adapted flicker electroretinogram (HP:0030473) help
................... HP:0030479 Abnormal amplitude of light-adapted flicker electroretinogram
................... HP:0030480 Abnormal timing of light-adapted flicker electroretinogram

 Sister Nodes: 
..expandAbnormal dark-adapted electroretinogram (HP:0030469) help
..expandAbnormal light- and dark-adapted electroretinogram (HP:0008323) 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:0008275HP:0008275Abnormal light-adapted electroretinogram0ATF6 CL E G H22926791ORPHA:49382Achromatopsia10
HP:0008275HP:0008275Abnormal light-adapted electroretinogram0CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0008275HP:0008275Abnormal light-adapted electroretinogram0CNGA3 CL E G H12612150ORPHA:49382Achromatopsia82
HP:0008275HP:0008275Abnormal light-adapted electroretinogram0CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0008275HP:0008275Abnormal light-adapted electroretinogram0CNGB3 CL E G H547142153ORPHA:49382Achromatopsia194
HP:0008275HP:0008275Abnormal light-adapted electroretinogram0GNAT2 CL E G H27804394ORPHA:49382Achromatopsia19
HP:0008275HP:0008275Abnormal light-adapted electroretinogram0KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0008275HP:0008275Abnormal light-adapted electroretinogram0OPN1SW CL E G H6111012OMIM:190900TRITANOPIA.3
HP:0008275HP:0008275Abnormal light-adapted electroretinogram0PDE6C CL E G H51468787ORPHA:49382Achromatopsia80
HP:0008275HP:0008275Abnormal light-adapted electroretinogram0PDE6H CL E G H51498790ORPHA:49382Achromatopsia14
HP:0008275HP:0008275Abnormal light-adapted electroretinogram0PDE6H CL E G H51498790OMIM:610024Retinal cone dystrophy 3A14
HP:0008275HP:0008275Abnormal light-adapted electroretinogram0RPGR CL E G H610310295ORPHA:49382Achromatopsia200
HP:0008275HP:0030472Abnormal light-adapted single flash electroretinogram1 CL E G H
HP:0008275HP:0030465Undetectable light-adapted electroretinogram1ATF6 CL E G H22926791ORPHA:49382AchromatopsiaHP:0040281 - Very frequent10
HP:0008275HP:0030473Abnormal light-adapted flicker electroretinogram1CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58
HP:0008275HP:0030465Undetectable light-adapted electroretinogram1CNGA3 CL E G H12612150ORPHA:49382AchromatopsiaHP:0040281 - Very frequent82
HP:0008275HP:0030465Undetectable light-adapted electroretinogram1CNGA3 CL E G H12612150OMIM:216900Achromatopsia 282
HP:0008275HP:0030465Undetectable light-adapted electroretinogram1CNGB3 CL E G H547142153ORPHA:49382AchromatopsiaHP:0040281 - Very frequent194
HP:0008275HP:0030465Undetectable light-adapted electroretinogram1GNAT2 CL E G H27804394ORPHA:49382AchromatopsiaHP:0040281 - Very frequent19
HP:0008275HP:0030473Abnormal light-adapted flicker electroretinogram1KIF3B CL E G H93716320OMIM:618955RETINITIS PIGMENTOSA 89; RP89
HP:0008275HP:0030465Undetectable light-adapted electroretinogram1PDE6C CL E G H51468787ORPHA:49382AchromatopsiaHP:0040281 - Very frequent80
HP:0008275HP:0030465Undetectable light-adapted electroretinogram1PDE6H CL E G H51498790ORPHA:49382AchromatopsiaHP:0040281 - Very frequent14
HP:0008275HP:0030473Abnormal light-adapted flicker electroretinogram1PDE6H CL E G H51498790OMIM:610024Retinal cone dystrophy 3A14
HP:0008275HP:0030465Undetectable light-adapted electroretinogram1RPGR CL E G H610310295ORPHA:49382AchromatopsiaHP:0040281 - Very frequent200
HP:0008275HP:0030482Abnormal timing of light-adapted single flash electroretinogram2 CL E G H
HP:0008275HP:0030481Abnormal amplitude of light-adapted single flash electroretinogram2 CL E G H
HP:0008275HP:0030480Abnormal timing of light-adapted flicker electroretinogram2 CL E G H
HP:0008275HP:0030479Abnormal amplitude of light-adapted flicker electroretinogram2CACNA1F CL E G H7781393OMIM:300071Night blindness, congenital stationary, type 2A58


Genes (10) :ATF6 CACNA1F CNGA3 CNGB3 GNAT2 KIF3B OPN1SW PDE6C PDE6H RPGR

Diseases (6) :ORPHA:49382 OMIM:300071 OMIM:216900 OMIM:618955 OMIM:190900 OMIM:610024
 

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