Developmental and Epileptic Encephalopathy 50

Preferred Label : Developmental and Epileptic Encephalopathy 50;

NCIt synonyms : CDG1Z; Early Infantile Epileptic Encephalopathy 50; EIEE50; DEE50; Congenital Disorder of Glycosylation Type Iz;

NCIt definition : An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the CAD gene, encoding CAD protein.;

NCI Metathesaurus CUI : CL586729;

Details

Origin ID

C190868;

UMLS CUI

C4225320;

Currated CISMeF NLP mapping
- CAD-CDG [ORDO Disease]
- Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Developmental and epileptic encephalopathy 50 [OMIM Phenotype]
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)
- Carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation (disorder) [SNOMED CT concept]
- Developmental and epileptic encephalopathy 50 [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
- CAD Gene [NCIt concept]

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