Intellectual Developmental Disorder, Autosomal Dominant 52

Preferred Label : Intellectual Developmental Disorder, Autosomal Dominant 52;

NCIt synonyms : MRD52; Mental Retardation, Autosomal Dominant 52;

NCIt definition : An autosomal dominant subtype of intellectual developmental disorder caused by mutation(s) in the ASH1L gene, encoding histone-lysine N-methyltransferase ASH1L.;

NCI Metathesaurus CUI : CL786938;

Details

Origin ID

C206522;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]

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