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Metadata
ID DOID:0081178
PURL http://purl.obolibrary.org/obo/DOID_0081178 Copy
Name autosomal recessive intellectual developmental disorder 2
Definition An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26.
https://pubmed.ncbi.nlm.nih.gov/28143899/
Xrefs

MIM:607417

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is_a autosomal recessive intellectual developmental disorder

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