Developmental and Epileptic Encephalopathy 9

Preferred Label : Developmental and Epileptic Encephalopathy 9;

NCIt synonyms : DEE9; EIEE9; Epileptic Encephalopathy, Early Infantile, 9;

NCIt definition : An X-linked subtype of developmental and epileptic encephalopathy caused by mutation(s) in the PCDH19 gene, encoding protocadherin-19.;

Détails

Origin ID

C201590;

UMLS CUI

C1848137;

Has associated anatomic sites
- Brain [NCIt concept]
- 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 9 [OMIM Phenotype]
- epilepsy, Female-Restricted, with mental retardation [MeSH Supplementary Concept]
- epilepsy, Female-Restricted, with mental retardation [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- PCDH19 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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