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Online Mendelian Inheritance in Man
Last uploaded:
August 28, 2024
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| Preferred Name | PHOTOPAROXYSMAL RESPONSE 1 | |
| Synonyms |
PPR EPILEPSY, PHOTOGENIC PPR1 PHOTOCONVULSIVE REACTION PHOTOSENSITIVITY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/132100 |
|
| altLabel |
PPR EPILEPSY, PHOTOGENIC PPR1 PHOTOCONVULSIVE REACTION PHOTOSENSITIVITY
|
|
| cui |
C1868677 C0349506
|
|
| Gene Locus |
6p21.1
|
|
| Gene Symbol |
PPR1
|
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000633 http://purl.bioontology.org/ontology/OMIM/MTHU000634 http://purl.bioontology.org/ontology/OMIM/MTHU000632 http://purl.bioontology.org/ontology/OMIM/MTHU000636 |
|
| MIMTYPEMEANING |
Mendelian phenotype or locus, molecular basis unknown.
|
|
| Moved from |
609569
|
|
| notation |
132100
|
|
| OMIM Entry Type |
5
|
|
| OMIM MimType Value |
perc
|
|
| prefLabel |
PHOTOPAROXYSMAL RESPONSE 1
|
|
| Scope Statement |
Occurs most often between 5 and 15 years of age [MISCELLANEOUS] Associated with myoclonic epilepsy [MISCELLANEOUS] Genetic heterogeneity (see PPR2, 609572 and PPR3, 609573) [MISCELLANEOUS] Associated with idiopathic generalized epilepsy (IGE, 600669) [MISCELLANEOUS] Age-dependent penetrance [MISCELLANEOUS]
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|
| tui |
T046 T047
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