Developmental And Epileptic Encephalopathy 66

Preferred Label : Developmental And Epileptic Encephalopathy 66;

NCIt synonyms : Early Infantile Epileptic Encephalopathy 66; EIEE66; DEE66;

NCIt definition : An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the PACS2 gene, encoding phosphofurin acidic cluster sorting protein 2.;

NCI Metathesaurus CUI : CL967064;

Details

Origin ID

C198576;

UMLS CUI

C4748070;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 66 [OMIM Phenotype]
- developmental and epileptic encephalopathy 66 [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 66 [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
- PACS2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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