Preferred Name | Juvenile Absence Epilepsy | |
Synonyms |
Juvenile Absence Epilepsy |
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Definitions |
A subtype of idiopathic generalized epilepsy, whose manifestations occur around puberty, associated with mutation(s) in the EFHC1 gene, encoding EF-hand domain-containing protein 1. |
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ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129868 |
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code |
C129868 |
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Concept_In_Subset | ||
Contributing_Source |
Cellosaurus |
|
DEFINITION |
A subtype of idiopathic generalized epilepsy, whose manifestations occur around puberty, associated with mutation(s) in the EFHC1 gene, encoding EF-hand domain-containing protein 1. |
|
FULL_SYN |
Juvenile Absence Epilepsy |
|
label |
Juvenile Absence Epilepsy |
|
NCI_META_CUI |
CL512872 |
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Preferred_Name |
Juvenile Absence Epilepsy |
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prefixIRI |
Thesaurus:C129868 |
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Related_To_Genetic_Biomarker | ||
Semantic_Type |
Disease or Syndrome |
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subClassOf |
Create mapping