Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system electrophysiology (HP:0001311)help
Parent Node:
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Abnormality of central nervous system electrophysiology (HP:0030178)help
Parent Node:
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Abnormality of peripheral nervous system electrophysiology (HP:0030177)help
..Starting node
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Abnormal auditory evoked potentials (HP:0006958)help
Term ID: 6958
Name: Abnormal auditory evoked potentials
Synonym: Abnormal brainstem auditory-evoked potentials
Definition: An abnormality of the auditory evoked potentials, which are used to trace the signal generated by a sound, from the cochlear nerve, through the lateral lemniscus, to the medial geniculate nucleus, and to the cortex.
Comments:
Reference: HP:0006958
Genes and Diseases:
 
       Child Nodes:
........expandAbsent brainstem auditory responses (HP:0004463) help
........expandProlonged brainstem auditory evoked potentials (HP:0004466) help

 Sister Nodes: 
..expandAbnormality of peripheral nerve conduction (HP:0003134) help
..expandAbnormality of somatosensory evoked potentials (HP:0007377) 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:0006958HP:0006958Abnormal auditory evoked potentials0ARHGEF2 CL E G H9181682OMIM:617523Neurodevelopmental disorder with midbrain and hindbrain malformations1
HP:0006958HP:0006958Abnormal auditory evoked potentials0CYP27A1 CL E G H15932605ORPHA:909Cerebrotendinous xanthomatosisHP:0040282 - Frequent114
HP:0006958HP:0006958Abnormal auditory evoked potentials0DIAPH3 CL E G H8162415480OMIM:609129Auditory neuropathy, autosomal dominant, 1.8
HP:0006958HP:0006958Abnormal auditory evoked potentials0EBP CL E G H106823133ORPHA:401973MEND syndromeHP:0040282 - Frequent51
HP:0006958HP:0006958Abnormal auditory evoked potentials0EDNRB CL E G H19103180OMIM:600501Abcd syndrome.55
HP:0006958HP:0006958Abnormal auditory evoked potentials0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0006958HP:0006958Abnormal auditory evoked potentials0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0006958HP:0006958Abnormal auditory evoked potentials0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0006958HP:0006958Abnormal auditory evoked potentials0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0006958HP:0006958Abnormal auditory evoked potentials0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0006958HP:0006958Abnormal auditory evoked potentials0GALC CL E G H25814115ORPHA:206448Adult Krabbe disease160
HP:0006958HP:0006958Abnormal auditory evoked potentials0GALC CL E G H25814115ORPHA:206436Infantile Krabbe disease160
HP:0006958HP:0006958Abnormal auditory evoked potentials0GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe disease160
HP:0006958HP:0006958Abnormal auditory evoked potentials0GJC2 CL E G H5716517494ORPHA:320401Autosomal recessive spastic paraplegia type 44HP:0040281 - Very frequent37
HP:0006958HP:0006958Abnormal auditory evoked potentials0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040282 - Frequent44
HP:0006958HP:0006958Abnormal auditory evoked potentials0MOGS CL E G H784124862ORPHA:79330MOGS-CDG37
HP:0006958HP:0006958Abnormal auditory evoked potentials0MTMR2 CL E G H88987450OMIM:601382Charcot-Marie-Tooth disease, type 4B1.88
HP:0006958HP:0006958Abnormal auditory evoked potentials0MYH3 CL E G H46217573OMIM:193700Arthrogryposis, distal, type 2A.166
HP:0006958HP:0006958Abnormal auditory evoked potentials0NDRG1 CL E G H103977679OMIM:601455Charcot-Marie-Tooth disease, type 4D.82
HP:0006958HP:0006958Abnormal auditory evoked potentials0NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1F118
HP:0006958HP:0006958Abnormal auditory evoked potentials0NMNAT1 CL E G H6480217877OMIM:619260SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS; SHILCA15
HP:0006958HP:0006958Abnormal auditory evoked potentials0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndrome214
HP:0006958HP:0006958Abnormal auditory evoked potentials0OPA1 CL E G H49768140OMIM:125250Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy.214
HP:0006958HP:0006958Abnormal auditory evoked potentials0OTOF CL E G H93818515OMIM:601071Deafness, autosomal recessive 9383
HP:0006958HP:0006958Abnormal auditory evoked potentials0PSAP CL E G H56609498ORPHA:206436Infantile Krabbe disease81
HP:0006958HP:0006958Abnormal auditory evoked potentials0RIPOR2 CL E G H975013872OMIM:616515Deafness, autosomal recessive 1041
HP:0006958HP:0006958Abnormal auditory evoked potentials0SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C493
HP:0006958HP:0006958Abnormal auditory evoked potentials0SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease61
HP:0006958HP:0006958Abnormal auditory evoked potentials0SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0006958HP:0006958Abnormal auditory evoked potentials0TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndrome15
HP:0006958HP:0004463Absent brainstem auditory responses1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent158
HP:0006958HP:0004463Absent brainstem auditory responses1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent199
HP:0006958HP:0004463Absent brainstem auditory responses1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent55
HP:0006958HP:0004466Prolonged brainstem auditory evoked potentials1GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040283 - Occasional160
HP:0006958HP:0004466Prolonged brainstem auditory evoked potentials1GALC CL E G H25814115ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent160
HP:0006958HP:0004466Prolonged brainstem auditory evoked potentials1GALC CL E G H25814115ORPHA:206443Late-infantile/juvenile Krabbe diseaseHP:0040282 - Frequent160
HP:0006958HP:0004463Absent brainstem auditory responses1MOGS CL E G H784124862ORPHA:79330MOGS-CDGHP:0040283 - Occasional37
HP:0006958HP:0004463Absent brainstem auditory responses1NEFL CL E G H47477739ORPHA:101085Charcot-Marie-Tooth disease type 1FHP:0040282 - Frequent118
HP:0006958HP:0004463Absent brainstem auditory responses1OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040282 - Frequent214
HP:0006958HP:0004463Absent brainstem auditory responses1OTOF CL E G H93818515OMIM:601071Deafness, autosomal recessive 9.383
HP:0006958HP:0004466Prolonged brainstem auditory evoked potentials1PSAP CL E G H56609498ORPHA:206436Infantile Krabbe diseaseHP:0040282 - Frequent81
HP:0006958HP:0004463Absent brainstem auditory responses1RIPOR2 CL E G H975013872OMIM:616515Deafness, autosomal recessive 1041
HP:0006958HP:0004466Prolonged brainstem auditory evoked potentials1SH3TC2 CL E G H7962829427OMIM:601596Charcot-Marie-Tooth disease, type 4C.493
HP:0006958HP:0004463Absent brainstem auditory responses1SOX10 CL E G H666311190OMIM:609136Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease.61
HP:0006958HP:0004463Absent brainstem auditory responses1SPTBN4 CL E G H5773114896OMIM:617519Neurodevelopmental disorder with hypotonia, neuropathy, and deafness3
HP:0006958HP:0004463Absent brainstem auditory responses1TIMM8A CL E G H167811817ORPHA:52368Mohr-Tranebjaerg syndromeHP:0040282 - Frequent15


Genes (25) :ARHGEF2 CYP27A1 DIAPH3 EBP EDNRB ERCC4 ERCC6 ERCC8 GALC GJC2 LMNB1 MOGS MTMR2 MYH3 NDRG1 NEFL NMNAT1 OPA1 OTOF PSAP RIPOR2 SH3TC2 SOX10 SPTBN4 TIMM8A

Diseases (27) :OMIM:617523 ORPHA:909 OMIM:609129 ORPHA:401973 OMIM:600501 ORPHA:90321 OMIM:133540 OMIM:216400 ORPHA:206448 ORPHA:206436 ORPHA:206443 ORPHA:320401 ORPHA:99027 ORPHA:79330 OMIM:601382 OMIM:193700 OMIM:601455 ORPHA:101085 OMIM:619260 ORPHA:1215 OMIM:125250 OMIM:601071 OMIM:616515 OMIM:601596 OMIM:609136 OMIM:617519 ORPHA:52368
 

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