Developmental and Epileptic Encephalopathy 7

Preferred Label : Developmental and Epileptic Encephalopathy 7;

NCIt synonyms : EIEE7; DEE7; Epileptic Encephalopathy, Early Infantile, 7;

NCIt definition : An autosomal dominant form of early infantile epileptic encephalopathy caused by mutation(s) in the KCNQ2 gene, encoding potassium voltage-gated channel subfamily KQT member 2.;

Détails

Origin ID

C192087;

UMLS CUI

C3150986;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 7 [OMIM Phenotype]
- developmental and epileptic encephalopathy 7 [DO Concept]
Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Developmental and epileptic encephalopathy 7 [OMIM Phenotype]
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
- KCNQ2 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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