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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000550HP:0000550Undetectable electroretinogram0CC2D2A CL E G H5754529253OMIM:619845RETINITIS PIGMENTOSA 93; RP93247
HP:0000550HP:0000550Undetectable electroretinogram0CLCC1 CL E G H2315529675OMIM:609913RETINITIS PIGMENTOSA 32; RP32
HP:0000550HP:0000550Undetectable electroretinogram0CLN3 CL E G H12012074OMIM:204200Ceroid lipofuscinosis, neuronal, 3.216
HP:0000550HP:0000550Undetectable electroretinogram0CLN3 CL E G H12012074ORPHA:228346CLN3 disease216
HP:0000550HP:0000550Undetectable electroretinogram0CLN8 CL E G H20552079ORPHA:1947Progressive epilepsy-intellectual disability syndrome, Finnish typeHP:0040282 - Frequent111
HP:0000550HP:0000550Undetectable electroretinogram0CRB1 CL E G H234182343OMIM:613835Leber congenital amaurosis 8.156
HP:0000550HP:0000550Undetectable electroretinogram0CRB1 CL E G H234182343OMIM:600105Retinitis pigmentosa 12156
HP:0000550HP:0000550Undetectable electroretinogram0CRX CL E G H14062383OMIM:613829Leber congenital amaurosis 7.158
HP:0000550HP:0000550Undetectable electroretinogram0EYS CL E G H34600721555OMIM:602772Retinitis pigmentosa 25209
HP:0000550HP:0000550Undetectable electroretinogram0FLVCR1 CL E G H2898224682OMIM:609033Ataxia, posterior column, with retinitis pigmentosa.111
HP:0000550HP:0000550Undetectable electroretinogram0HSD17B4 CL E G H32955213OMIM:261515D-bifunctional protein deficiency98
HP:0000550HP:0000550Undetectable electroretinogram0IFT140 CL E G H974229077OMIM:266920Short-rib thoracic dysplasia 9 with or without polydactyly148
HP:0000550HP:0000550Undetectable electroretinogram0KIZ CL E G H5585715865OMIM:615780Retinitis pigmentosa 69.HP:0003596 - Middle age onset3
HP:0000550HP:0000550Undetectable electroretinogram0LCA5 CL E G H16769131923OMIM:604537Leber congenital amaurosis 570
HP:0000550HP:0000550Undetectable electroretinogram0LCA5 CL E G H16769131923ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent70
HP:0000550HP:0000550Undetectable electroretinogram0LRAT CL E G H92276685OMIM:613341Leber congenital amaurosis 14.62
HP:0000550HP:0000550Undetectable electroretinogram0LRAT CL E G H92276685ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent62
HP:0000550HP:0000550Undetectable electroretinogram0MYO7A CL E G H46477606OMIM:276900Usher syndrome, type I.516
HP:0000550HP:0000550Undetectable electroretinogram0NMNAT1 CL E G H6480217877OMIM:608553Leber congenital amaurosis 915
HP:0000550HP:0000550Undetectable electroretinogram0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0000550HP:0000550Undetectable electroretinogram0NR2E3 CL E G H100027974OMIM:268100Enhanced S-cone syndrome.58
HP:0000550HP:0000550Undetectable electroretinogram0NRL CL E G H49018002OMIM:613750Retinitis pigmentosa 27.30
HP:0000550HP:0000550Undetectable electroretinogram0PDE6D CL E G H51478788OMIM:615665Joubert syndrome 221
HP:0000550HP:0000550Undetectable electroretinogram0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0000550HP:0000550Undetectable electroretinogram0PPT1 CL E G H55389325OMIM:256730Ceroid lipofuscinosis, neuronal, 1.172
HP:0000550HP:0000550Undetectable electroretinogram0PRCD CL E G H76820632528OMIM:610599Retinitis pigmentosa 36.39
HP:0000550HP:0000550Undetectable electroretinogram0PROM1 CL E G H88429454OMIM:612095RETINITIS PIGMENTOSA 41; RP41110
HP:0000550HP:0000550Undetectable electroretinogram0RPE65 CL E G H612110294ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent129
HP:0000550HP:0000550Undetectable electroretinogram0RPGRIP1 CL E G H5709613436OMIM:613826Leber congenital amaurosis 6.109
HP:0000550HP:0000550Undetectable electroretinogram0SPATA7 CL E G H5581220423ORPHA:364055Severe early-childhood-onset retinal dystrophyHP:0040282 - Frequent48
HP:0000550HP:0000550Undetectable electroretinogram0TPP1 CL E G H12002073OMIM:204500Ceroid lipofuscinosis, neuronal, 2.203
HP:0000550HP:0000550Undetectable electroretinogram0TULP1 CL E G H728712423OMIM:600132RETINITIS PIGMENTOSA 14; RP1466
HP:0000550HP:0000550Undetectable electroretinogram0USH1C CL E G H1008312597OMIM:276900Usher syndrome, type I.173


Genes (28) :CC2D2A CLCC1 CLN3 CLN8 CRB1 CRX EYS FLVCR1 HSD17B4 IFT140 KIZ LCA5 LRAT MYO7A NMNAT1 NR2E3 NRL PDE6D POMGNT1 PPT1 PRCD PROM1 RPE65 RPGRIP1 SPATA7 TPP1 TULP1 USH1C

Diseases (29) :OMIM:619845 OMIM:609913 OMIM:204200 ORPHA:228346 ORPHA:1947 OMIM:613835 OMIM:600105 OMIM:613829 OMIM:602772 OMIM:609033 OMIM:261515 OMIM:266920 OMIM:615780 OMIM:604537 ORPHA:364055 OMIM:613341 OMIM:276900 OMIM:608553 OMIM:619260 OMIM:268100 OMIM:613750 OMIM:615665 OMIM:253280 OMIM:256730 OMIM:610599 OMIM:612095 OMIM:613826 OMIM:204500 OMIM:600132
 

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