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Disease Ontology Browser
Koolen-De Vries syndrome (DOID:0070076)
Alliance: disease page
Synonyms: chromosome 17q21.31 deletion syndrome; microdeletion 17q21.31 syndrome
Alt IDs: OMIM:610443
Definition: An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of KANSL1 on chromosome 17q21.31.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
04/03/2018
MGI 6.11
The Jackson Laboratory