Mental Retardation, Autosomal Dominant 5

Preferred Label : Mental Retardation, Autosomal Dominant 5;

NCIt synonyms : MRD5;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the SYNGAP1 gene, encoding Ras/Rap GTPase-activating protein SynGAP. It is characterized by intellectual disability, with most patients developing generalized epilepsy, with some having autism spectrum disorder.;

Details

Origin ID

C178414;

UMLS CUI

C2675473;

Currated CISMeF NLP mapping
- Intellectual developmental disorder, autosomal dominant 5 [OMIM Phenotype]
- autosomal dominant non-syndromic intellectual disability 5 [DO Concept]
- mental retardation autosomal dominant 5 [Disease (Nov.)]
- mental retardation, autosomal dominant 5 [MeSH Supplementary Concept]
- mental retardation, autosomal dominant 5 [MeSH concept]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, autosomal dominant 5 [OMIM Phenotype]
- mental retardation autosomal dominant 5 [Disease (Nov.)]
- mental retardation, autosomal dominant 5 [MeSH Supplementary Concept]
- mental retardation, autosomal dominant 5 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- SYNGAP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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