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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Undetectable electroretinogram (HP:0000550)help
Term ID: 550
Name: Undetectable electroretinogram
Synonym: Abolished electroretinogram; Absent electroretinogram; Extinction of electroretinogram; Extinguished electroretinogram; No light-evoked response on electroretinogram; Undetectable ERG
Definition: Lack of any response to stimulation upon electroretinography.
Comments:
Reference: HP:0000550
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal full-field electroretinogram (HP:0030466) help
..expandAbnormal multifocal electroretinogram (HP:0030468) help
..expandAbnormal pattern electroretinogram (HP:0030467) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000550HP:0000550Undetectable electroretinogram0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM16822074607042
HP:0000550HP:0000550Undetectable electroretinogram0CLN3 CL E G H1201204200Juvenile neuronal ceroid lipofuscinosis204200C0751383OMIM17662074607042
HP:0000550HP:0000550Undetectable electroretinogram0CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM18942343604210
HP:0000550HP:0000550Undetectable electroretinogram0CRB1 CL E G H23418613835Leber congenital amaurosis 8613835C3151202OMIM110852343604210
HP:0000550HP:0000550Undetectable electroretinogram0CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM14192383602225
HP:0000550HP:0000550Undetectable electroretinogram0CRX CL E G H1406613829Leber congenital amaurosis 7613829C3151192OMIM13612383602225
HP:0000550HP:0000550Undetectable electroretinogram0EYS CL E G H346007602772Retinitis pigmentosa 25602772C1864446OMIM1258921555612424
HP:0000550HP:0000550Undetectable electroretinogram0EYS CL E G H346007602772Retinitis pigmentosa 25602772C1864446OMIM1206021555612424
HP:0000550HP:0000550Undetectable electroretinogram0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM139124682609144
HP:0000550HP:0000550Undetectable electroretinogram0FLVCR1 CL E G H28982609033Posterior column ataxia with retinitis pigmentosa609033C1836916OMIM132624682609144
HP:0000550HP:0000550Undetectable electroretinogram0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM15605213601860
HP:0000550HP:0000550Undetectable electroretinogram0HSD17B4 CL E G H3295261515Bifunctional peroxisomal enzyme deficiency261515C0342870OMIM16395213601860
HP:0000550HP:0000550Undetectable electroretinogram0KIZ CL E G H55857615780Retinitis pigmentosa 69615780C4014312OMIM118215865615757
HP:0000550HP:0000550Undetectable electroretinogram0KIZ CL E G H55857615780Retinitis pigmentosa 69615780C4014312OMIM126215865615757
HP:0000550HP:0000550Undetectable electroretinogram0LCA5 CL E G H167691604537Leber congenital amaurosis 5604537C1858301OMIM137431923611408
HP:0000550HP:0000550Undetectable electroretinogram0LCA5 CL E G H167691604537Leber congenital amaurosis 5604537C1858301OMIM145831923611408
HP:0000550HP:0000550Undetectable electroretinogram0LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM11826685604863
HP:0000550HP:0000550Undetectable electroretinogram0LRAT CL E G H9227613341Leber congenital amaurosis 14613341C2750063OMIM12056685604863
HP:0000550HP:0000550Undetectable electroretinogram0MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM122237606276903
HP:0000550HP:0000550Undetectable electroretinogram0MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM125167606276903
HP:0000550HP:0000550Undetectable electroretinogram0NR2E3 CL E G H10002268100Enhanced s-cone syndrome268100C1849394OMIM14227974604485
HP:0000550HP:0000550Undetectable electroretinogram0NR2E3 CL E G H10002268100Enhanced s-cone syndrome268100C1849394OMIM13637974604485
HP:0000550HP:0000550Undetectable electroretinogram0NRL CL E G H4901613750Retinitis pigmentosa 27613750C1834329OMIM12178002162080
HP:0000550HP:0000550Undetectable electroretinogram0NRL CL E G H4901613750Retinitis pigmentosa 27613750C1834329OMIM11648002162080
HP:0000550HP:0000550Undetectable electroretinogram0PDE6D CL E G H5147615665Joubert syndrome 22615665C3810278OMIM1578788602676
HP:0000550HP:0000550Undetectable electroretinogram0PDE6D CL E G H5147615665Joubert syndrome 22615665C3810278OMIM1418788602676
HP:0000550HP:0000550Undetectable electroretinogram0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM166219139606822
HP:0000550HP:0000550Undetectable electroretinogram0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM179719139606822
HP:0000550HP:0000550Undetectable electroretinogram0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM14549325600722
HP:0000550HP:0000550Undetectable electroretinogram0PPT1 CL E G H5538256730Ceroid lipofuscinosis neuronal 1256730C1850451OMIM14209325600722
HP:0000550HP:0000550Undetectable electroretinogram0PRCD CL E G H768206610599Retinitis pigmentosa 36610599C1864621OMIM110232528610598
HP:0000550HP:0000550Undetectable electroretinogram0PRCD CL E G H768206610599Retinitis pigmentosa 36610599C1864621OMIM111432528610598
HP:0000550HP:0000550Undetectable electroretinogram0PROM1 CL E G H8842612095Retinitis pigmentosa 41612095C2677516OMIM16439454604365
HP:0000550HP:0000550Undetectable electroretinogram0PROM1 CL E G H8842612095Retinitis pigmentosa 41612095C2677516OMIM15099454604365
HP:0000550HP:0000550Undetectable electroretinogram0RPGRIP1 CL E G H57096613826Leber congenital amaurosis 6613826C1854260OMIM157013436605446
HP:0000550HP:0000550Undetectable electroretinogram0RPGRIP1 CL E G H57096613826Leber congenital amaurosis 6613826C1854260OMIM170813436605446
HP:0000550HP:0000550Undetectable electroretinogram0TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM17452073607998
HP:0000550HP:0000550Undetectable electroretinogram0TPP1 CL E G H1200204500Ceroid lipofuscinosis neuronal 2204500C1876161OMIM16452073607998
HP:0000550HP:0000550Undetectable electroretinogram0USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM181212597605242
HP:0000550HP:0000550Undetectable electroretinogram0USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM173312597605242
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000550HP:0000550Undetectable electroretinogram0TULP1 CL E G H7287600132Retinitis pigmentosa 14600132C1838603OMIM031112423602280
HP:0000550HP:0000550Undetectable electroretinogram0TULP1 CL E G H7287600132Retinitis pigmentosa 14600132C1838603OMIM040712423602280


Genes (21) :CLN3 CRB1 CRX EYS FLVCR1 HSD17B4 KIZ LCA5 LRAT MYO7A NR2E3 NRL PDE6D POMGNT1 PPT1 PRCD PROM1 RPGRIP1 TPP1 TULP1 USH1C

Diseases (20) :204200 613835 613829 602772 609033 261515 615780 604537 613341 276900 268100 613750 615665 253280 256730 610599 612095 613826 204500 600132
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.