Developmental and Epileptic Encephalopathy 107

Preferred Label : Developmental and Epileptic Encephalopathy 107;

NCIt definition : An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the NAPB gene, encoding beta-soluble NSF attachment protein.;

NCI Metathesaurus CUI : CL1799281;

Details

Origin ID

C190869;

UMLS CUI

C5774215;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 107 [OMIM Phenotype]
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 107 [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
- NAPB Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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