Developmental and Epileptic Encephalopathy 47

Preferred Label : Developmental and Epileptic Encephalopathy 47;

NCIt synonyms : Epileptic Encephalopathy, Early Infantile, 47; EIEE47; DEE47;

NCIt definition : An autosomal dominant subtype of developmental and epileptic encephalopathy, caused by mutation(s) in the FGF12 gene, encoding fibroblast growth factor 12.;

NCI Metathesaurus CUI : CL602193;

Details

Origin ID

C201514;

UMLS CUI

C4310685;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 47 [OMIM Phenotype]
- developmental and epileptic encephalopathy 47 [DO Concept]
Has associated anatomic sites
- 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 47 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
disease_mapped_to_gene
- FGF12 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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