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Disease Ontology Browser
Coffin-Siris syndrome 1 (DOID:0070042)
Alliance: disease page
Synonyms: autosomal dominant mental retardation 12; CSS1; fifth digit syndrome; MRD12
Alt IDs: OMIM:135900
Definition: An autosomal dominant non-syndromic intellectual disability that has_material_basis_in an autosomal dominant mutation of ARID1B on chromosome 6q25.3.


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
04/17/2018
MGI 6.11
The Jackson Laboratory