Intellectual Developmental Disorder, Autosomal Dominant 42

Preferred Label : Intellectual Developmental Disorder, Autosomal Dominant 42;

NCIt synonyms : MRD42;

NCIt definition : An autosomal dominant subtype of intellectual developmental disorder caused by mutation(s) in the GNB1 gene, encoding guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1.;

Details

Origin ID

C215154;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- GNB1 Gene [NCIt concept]

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