loading...| Preferred Name |
EPILEPSY, PROGRESSIVE MYOCLONIC 7 |
| Synonyms |
EPM7 |
| ID |
http://purl.bioontology.org/ontology/OMIM/616187 |
| altLabel |
EPM7 |
| cui |
C4015420 |
| Gene Locus |
11p15 |
| Gene Symbol |
KCNC1 EPM7 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU004473 http://purl.bioontology.org/ontology/OMIM/MTHU011422 http://purl.bioontology.org/ontology/OMIM/MTHU036349 http://purl.bioontology.org/ontology/OMIM/MTHU021298 http://purl.bioontology.org/ontology/OMIM/MTHU036363 http://purl.bioontology.org/ontology/OMIM/MTHU003335 http://purl.bioontology.org/ontology/OMIM/MTHU012868 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
616187 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
EPILEPSY, PROGRESSIVE MYOCLONIC 7 |
| Scope Statement |
Most patients become wheelchair-bound in adolescence [MISCELLANEOUS] Caused by mutation in the voltage-gated potassium channel, Shaw-related subfamily, member 1 gene (KCNC1, 176258.0001) [MOLECULAR BASIS] Progressive disorder [MISCELLANEOUS] Most mutations occur de novo [MISCELLANEOUS] Onset between 6 and 14 years [MISCELLANEOUS] |
| tui |
T047 |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142804 | National Cancer Institute Thesaurus / 美国国家癌症研究所词典 | LOOM |