Nicolaides-Baraitser Syndrome

Preferred Label : Nicolaides-Baraitser Syndrome;

NCIt synonyms : NCBRS;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SMARCA2 gene, encoding probable global transcription activator SNF2L2. It is characterized by severe intellectual disability, early-onset seizures, and facial dysmorphia.;

Details

Origin ID

C205644;

Currated CISMeF NLP mapping
- Nicolaides Baraitser syndrome [Disease (Nov.)]
- Nicolaides Baraitser syndrome [MeSH concept]
- Nicolaides-Baraitser syndrome [DO Concept]
- Nicolaides-Baraitser syndrome [ORDO Disease]
- Nicolaides-Baraitser syndrome (disorder) [SNOMED CT concept]
- Nicolaides-baraitser syndrome [OMIM Phenotype]
- nicolaides baraitser syndrome [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_mapped_to_gene
- SMARCA2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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