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Metadata
ID DOID:0081216
PURL http://purl.obolibrary.org/obo/DOID_0081216 Copy
Name autosomal recessive intellectual developmental disorder 54
Definition An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26.
https://pubmed.ncbi.nlm.nih.gov/27106596/
Xrefs

MIM:617028

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is_a autosomal recessive intellectual developmental disorder

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