loading...| Preferred Name |
PHOTOPAROXYSMAL RESPONSE 1 |
|
| Synonyms |
PPR |
|
| 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] |
|
| tui |
T046 T047 |