Developmental and Epileptic Encephalopathy 85 with or without Midline Brain Defects

Preferred Label : Developmental and Epileptic Encephalopathy 85 with or without Midline Brain Defects;

NCIt synonyms : DEE85; EIEE85; Early Infantile Epileptic Encephalopathy 85 with or without Midline Brain Defects;

NCIt definition : An X-linked dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the SMC1A gene, encoding structural maintenance of chromosomes protein 1A.;

NCI Metathesaurus CUI : CL1639548;

Details

Origin ID

C202548;

UMLS CUI

C5393312;

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 85 with or without midline brain defects [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
- SMC1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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