Developmental and Epileptic Encephalopathy 44

Preferred Label : Developmental and Epileptic Encephalopathy 44;

NCIt synonyms : Early Infantile Epileptic Encephalopathy 44; DEE44; EIEE44;

NCIt definition : An autosomal recessive subtype of developmental and epileptic encephalopathy caused by mutation(s) in the UBA5 gene, encoding ubiquitin-like modifier-activating enzyme 5.;

NCI Metathesaurus CUI : CL602126;

Details

Origin ID

C202547;

UMLS CUI

C4310700;

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 44 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]

Keyword's position in hierarchy(ies) :

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