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loading...| Preferred Name |
Developmental and Epileptic Encephalopathy 4 |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C162472 |
| code |
C162472 |
| Concept_In_Subset | |
| Contributing_Source |
Cellosaurus |
| DEFINITION |
An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the STXBP1 gene, encoding syntaxin-binding protein 1. |
| FULL_SYN |
Developmental and Epileptic Encephalopathy 4 DEE4 EIEE4 Early Infantile Epileptic Encephalopathy 4 |
| label |
Developmental and Epileptic Encephalopathy 4 |
| Preferred_Name |
Developmental and Epileptic Encephalopathy 4 |
| prefixIRI |
Thesaurus:C162472 |
| prefLabel |
Developmental and Epileptic Encephalopathy 4 |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C2677326 |
| subClassOf |
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