loading...| Preferred Name |
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 |
| Synonyms |
GEFSP1 |
| ID |
http://purl.bioontology.org/ontology/OMIM/604233 |
| altLabel |
GEFSP1 GEFS+1 GEFS+, TYPE 1 |
| cui |
C1858672 |
| Gene Locus |
19q13.1 |
| Gene Symbol |
GEFSP1 EIEE52 ATFB13 BRGDA5 SCN1B |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU021299 http://purl.bioontology.org/ontology/OMIM/MTHU033409 http://purl.bioontology.org/ontology/OMIM/MTHU033407 http://purl.bioontology.org/ontology/OMIM/MTHU033404 http://purl.bioontology.org/ontology/OMIM/MTHU002883 http://purl.bioontology.org/ontology/OMIM/MTHU000392 http://purl.bioontology.org/ontology/OMIM/MTHU001112 http://purl.bioontology.org/ontology/OMIM/MTHU033408 http://purl.bioontology.org/ontology/OMIM/MTHU000572 http://purl.bioontology.org/ontology/OMIM/MTHU033405 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
604236 |
| notation |
604233 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1 |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C565809 | Medical Subject Headings | CUI | |
| http://purl.bioontology.org/ontology/MESH/C565809 | Medical Subject Headings | LOOM |