Developmental and Epileptic Encephalopathy 36

Preferred Label : Developmental and Epileptic Encephalopathy 36;

NCIt synonyms : EIEE36; Early Infantile Epileptic Encephalopathy 36; DEE36;

NCIt definition : An X-linked dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the ALG13 gene, encoding putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13.;

Details

Origin ID

C142803;

UMLS CUI

C4317295;

Currated CISMeF NLP mapping
- Developmental and epileptic encephalopathy 36 [OMIM Phenotype]
- developmental and epileptic encephalopathy 36 [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)
- Congenital disorder of glycosylation type 1s (disorder) [SNOMED CT concept]
- Developmental and epileptic encephalopathy 36 [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
- ALG13 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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