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Disease Ontology Browser
Coffin-Siris syndrome 9 (DOID:0070057)
Alliance: disease page
Synonyms: autosomal dominant mental retardation 27; autosomal dominant non-syndromic intellectual disability 27; MRD27
Alt IDs: OMIM:615866
Definition: An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2.


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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory