Epilepsy, juvenile myoclonic, susceptibility to, 10

Preferred Label : Epilepsy, juvenile myoclonic, susceptibility to, 10;

Symbol : EJM10;

CISMeF acronym : EJM10;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the intestinal cell kinase gene (ICK, 612325.0002).;

Prefixed ID : #617924;

Details

Origin ID

617924;

UMLS CUI

C4693613;

Automatic exact mappings (from CISMeF team)
- CILK1 wt Allele [NCIt concept]
- juvenile myoclonic epilepsy 10 [DO Concept]
DO Cross reference
- juvenile myoclonic epilepsy 10 [DO Concept]
Genes related to phenotype
- Intestinal cell kinase [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Febrile seizure (within the age range of 3 months to 6 years) [HPO term]
- Generalized myoclonic seizure [HPO term]
- Generalized non-motor (absence) seizure [HPO term]
- Incomplete penetrance [HPO term]
- Seizure [HPO term]
ORDO concept(s)
- Juvenile myoclonic epilepsy [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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