Developmental and Epileptic Encephalopathy 76

Preferred Label : Developmental and Epileptic Encephalopathy 76;

NCIt synonyms : Early Infantile Epileptic Encephalopathy 76; DEE76; EIEE76;

NCIt definition : An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ACTL6B gene, encoding actin-like protein 6B.;

NCI Metathesaurus CUI : CL1371264;

Details

Origin ID

C179296;

UMLS CUI

C5193113;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 76 [OMIM Phenotype]
- developmental and epileptic encephalopathy 76 [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 76 [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
- ACTL6B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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