Developmental and Epileptic Encephalopathy 25

Preferred Label : Developmental and Epileptic Encephalopathy 25;

NCIt synonyms : EIEE25; SLC13A5 Deficiency; Early Infantile Epileptic Encephalopathy 25;

NCIt definition : An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the SLC13A5 gene, encoding solute carrier family 13 member 5.;

NCI Metathesaurus CUI : CL972914;

Details

Origin ID

C168597;

UMLS CUI

C4014621;

CISMeF manual mappings
- Developmental and epileptic encephalopathy 25 with amelogenesis imperfecta [OMIM Phenotype]
- developmental and epileptic encephalopathy 25 [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 25 with amelogenesis imperfecta [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
- SLC13A5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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