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/MTHU027027 http://purl.bioontology.org/ontology/OMIM/MTHU027025 http://purl.bioontology.org/ontology/OMIM/MTHU000632 http://purl.bioontology.org/ontology/OMIM/MTHU000640 http://purl.bioontology.org/ontology/OMIM/MTHU000633 http://purl.bioontology.org/ontology/OMIM/MTHU000639 http://purl.bioontology.org/ontology/OMIM/MTHU000637 |
| 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 |
| tui |
T046 T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D010787 | Medical Subject Headings | CUI |