Mental Retardation, Autosomal Dominant 18

Preferred Label : Mental Retardation, Autosomal Dominant 18;

NCIt synonyms : GAND Syndrome; MRD18;

NCIt definition : An autosomal dominant neurodevelopmental syndrome caused by mutation(s) in the GATAD2B gene, encoding transcriptional repressor p66-beta. It is characterized by global developmental delay and intellectual impairment.;

Details

Origin ID

C202606;

UMLS CUI

C3554448;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Gand syndrome [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

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