Developmental and Epileptic Encephalopathy 1

Preferred Label : Developmental and Epileptic Encephalopathy 1;

NCIt synonyms : EIEE1; DEE1; Early Infantile Epileptic Encephalopathy 1;

NCIt definition : An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ARX gene, encoding homeobox protein ARX.;

Détails

Origin ID

C179866;

UMLS CUI

C3463992;

Automatic exact mappings (from CISMeF team)
- Developmental and epileptic encephalopathy 18 [OMIM Phenotype]
- aristaless related homeobox [ORDO Gene]
Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 1 [OMIM Phenotype]
- developmental and epileptic encephalopathy 1 [DO Concept]
Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
See also inter- (CISMeF)
- Epileptic Encephalopathy, Early Infantile, 1 [MeSH concept]
- Infantile Epileptic-Dyskinetic Encephalopathy [MeSH concept]
- Infantile Epileptic-Dyskinetic Encephalopathy [MeSH Supplementary Concept]
- Infantile epileptic-dyskinetic encephalopathy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and epileptic encephalopathy 1 [OMIM Phenotype]
- Infantile Epileptic-Dyskinetic Encephalopathy [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- ARX Gene [NCIt concept]

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