Term ID: |
11158 |
Name: |
Focal sensory seizure with auditory features |
Synonym: |
Auditory aura; Focal auditory seizure; Focal sensory auditory seizure; Partial auditory seizure |
Definition: |
A seizure characterized by elementary auditory phenomena including buzzing, ringing, drumming or single tones as its first clinical manifestation. |
Comments: |
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Reference: |
HP:0011158 |
Genes and Diseases: | |
Child Nodes: |
Sister Nodes: |
..Experiential epileptic aura (HP:0012002)
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..Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena (HP:0011159)
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..Focal sensory seizure with gustatory features (HP:0011160)
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..Focal sensory seizure with olfactory features (HP:0011161)
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..Focal sensory seizure with somatosensory features (HP:0011163)
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..Focal sensory seizure with visual features (HP:0011165)
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..obsolete Psychic auras (HP:0011162)
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..obsolete Vegetative auras (HP:0011164)
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Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0011158 | HP:0011158 | Focal sensory seizure with auditory features | 0 | GAL CL E G H | 51083 | 4114 | OMIM:616461 | Epilepsy, familial temporal lobe, 8 | | | | 1 | | | HP:0011158 | HP:0011158 | Focal sensory seizure with auditory features | 0 | LGI1 CL E G H | 9211 | 6572 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 75 | | | HP:0011158 | HP:0011158 | Focal sensory seizure with auditory features | 0 | MICAL1 CL E G H | 64780 | 20619 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | | | | HP:0011158 | HP:0011158 | Focal sensory seizure with auditory features | 0 | RELN CL E G H | 5649 | 9957 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 334 | | | HP:0011158 | HP:0011158 | Focal sensory seizure with auditory features | 0 | RELN CL E G H | 5649 | 9957 | OMIM:616436 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 7; ETL7 | | | | 334 | | | HP:0011158 | HP:0032880 | Focal impaired awareness sensory seizure with auditory features | 1 | CL E G H | | | | | | | | | | | HP:0011158 | HP:0032864 | Focal aware sensory seizure with auditory features | 1 | GAL CL E G H | 51083 | 4114 | OMIM:616461 | Epilepsy, familial temporal lobe, 8 | | | | 1 | | | HP:0011158 | HP:0032864 | Focal aware sensory seizure with auditory features | 1 | LGI1 CL E G H | 9211 | 6572 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 75 | | | HP:0011158 | HP:0032864 | Focal aware sensory seizure with auditory features | 1 | MICAL1 CL E G H | 64780 | 20619 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | | | | HP:0011158 | HP:0032864 | Focal aware sensory seizure with auditory features | 1 | RELN CL E G H | 5649 | 9957 | OMIM:600512 | EPILEPSY, FAMILIAL TEMPORAL LOBE, 1; ETL1 | | | | 334 | | |
Genes (4) :GAL LGI1 MICAL1 RELN
Diseases (3) :OMIM:616461 OMIM:600512 OMIM:616436 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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