loading...| Preferred Name |
PHOTOPAROXYSMAL RESPONSE 1 |
| Synonyms |
PHOTOSENSITIVITY |
| ID |
http://purl.bioontology.org/ontology/OMIM/132100 |
| altLabel |
PHOTOSENSITIVITY PHOTOCONVULSIVE REACTION PPR1 PPR EPILEPSY, PHOTOGENIC |
| cui |
C1868677 C0349506 |
| Gene Locus |
6p21.1 |
| Gene Symbol |
PPR1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000636 http://purl.bioontology.org/ontology/OMIM/MTHU000634 http://purl.bioontology.org/ontology/OMIM/MTHU027025 http://purl.bioontology.org/ontology/OMIM/MTHU000632 |
| 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 |
Genetic heterogeneity (see PPR2, 609572 and PPR3, 609573) [MISCELLANEOUS] Associated with myoclonic epilepsy [MISCELLANEOUS] Associated with idiopathic generalized epilepsy (IGE, 600669) [MISCELLANEOUS] Occurs most often between 5 and 15 years of age [MISCELLANEOUS] Age-dependent penetrance [MISCELLANEOUS] |
| tui |
T046 T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0007559 | Mondo Disease Ontology / Mondo疾病本体 | LOOM | |
| http://purl.bioontology.org/ontology/MESH/D010787 | Medical Subject Headings / 医学主题词表 | CUI |