Developmental and Epileptic Encephalopathy 46

Preferred Label : Developmental and Epileptic Encephalopathy 46;

NCIt synonyms : Early Infantile Epileptic Encephalopathy 46; EIEE46; DEE46;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the GRIN2D gene, encoding glutamate receptor ionotropic, NMDA 2D. It is characterized by developmental delay and intractable seizures.;

NCI Metathesaurus CUI : CL602133;

Details

Origin ID

C177545;

UMLS CUI

C4310687;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 46 [OMIM Phenotype]
- developmental and epileptic encephalopathy 46 [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 46 [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
- GRIN2D Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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