| Term ID: |
10852 |
| Name: |
EEG with photoparoxysmal response |
| Synonym: |
Photoparoxysmal response on EEG |
| Definition: |
EEG abnormalities (epileptiform discharges) evoked by flashing lights or black and white striped patterns. |
| Comments: |
|
| Reference: |
HP:0010852 |
| Genes and Diseases: | |
Child Nodes: |
........ EEG with photoparoxysmal response grade I (HP:0011211) 
|
........EEG with photoparoxysmal response grade II (HP:0011212)
|
........EEG with photoparoxysmal response grade III (HP:0011213)
|
........EEG with photoparoxysmal response grade IV (HP:0011214)
|
Sister Nodes: |
..EEG with abnormally slow frequencies (HP:0011203)
|
..EEG with changes in voltage (HP:0011201)
|
..EEG with constitutional variants (HP:0011176)
|
..EEG with diffuse acceleration (HP:0011202)
|
..Interictal EEG abnormality (HP:0025373)
|
..Interictal epileptiform activity (HP:0011182)
|
| Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
|---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: | | HP:0010852 | HP:0010852 | EEG with photoparoxysmal response | 0 | CERS1 CL E G H | 10715 | 14253 | OMIM:616230 | Epilepsy, progressive myoclonic, 8 | | | | 1 | | | | HP:0010852 | HP:0010852 | EEG with photoparoxysmal response | 0 | FBXO28 CL E G H | 23219 | 29046 | OMIM:619777 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100 | | | | | | | | HP:0010852 | HP:0010852 | EEG with photoparoxysmal response | 0 | GABRA1 CL E G H | 2554 | 4075 | OMIM:615744 | Epileptic encephalopathy, early infantile, 19 | | | | 134 | | | | HP:0010852 | HP:0010852 | EEG with photoparoxysmal response | 0 | MARCHF6 CL E G H | 10299 | 30550 | OMIM:613608 | Epilepsy, familial adult myoclonic, 3 | . | | | | | | | HP:0010852 | HP:0010852 | EEG with photoparoxysmal response | 0 | SAMD12 CL E G H | 401474 | 31750 | OMIM:601068 | Epilepsy, familial adult myoclonic, 1 | . | | | 2 | | | | HP:0010852 | HP:0010852 | EEG with photoparoxysmal response | 0 | SHQ1 CL E G H | 55164 | 25543 | OMIM:619922 | | | | | | | | | HP:0010852 | HP:0010852 | EEG with photoparoxysmal response | 0 | STARD7 CL E G H | 56910 | 18063 | OMIM:607876 | Epilepsy, familial adult myoclonic, 2 | . | | | | | | | HP:0010852 | HP:0011211 | EEG with photoparoxysmal response grade I | 1 | CL E G H | | | | | | | | | | | | HP:0010852 | HP:0011214 | EEG with photoparoxysmal response grade IV | 1 | CL E G H | | | | | | | | | | | | HP:0010852 | HP:0011213 | EEG with photoparoxysmal response grade III | 1 | CL E G H | | | | | | | | | | | | HP:0010852 | HP:0011212 | EEG with photoparoxysmal response grade II | 1 | CL E G H | | | | | | | | | | |
Genes (7) :CERS1 FBXO28 GABRA1 MARCHF6 SAMD12 SHQ1 STARD7
Diseases (7) :OMIM:616230 OMIM:619777 OMIM:615744 OMIM:613608 OMIM:601068 OMIM:619922 OMIM:607876 |
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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