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Metadata
ID DOID:0070073
Name autosomal dominant intellectual developmental disorder 43
Definition An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2.
https://www.ncbi.nlm.nih.gov/pubmed/27003583
Xrefs

OMIM:616977

Synonyms

autosomal dominant mental retardation 43 [EXACT]

autosomal dominant non-syndromic intellectual disability 43 [EXACT]

MRD43 [EXACT]

Parent Relationships

is_a autosomal dominant intellectual developmental disorder

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