Coffin-Siris syndrome 3

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Summary

Literature (0)

DOID:0070045 - Coffin-Siris syndrome 3

Disease Ontology Definition:A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23.

Synonyms: CSS3, MRD15, autosomal dominant mental retardation 15

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: smarcb1

MIM:

MIM:614608 - mental retardation, autosomal dominant 15; mrd15

MIM:614608 - mental retardation, autosomal dominant 15; mrd15

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal dominant intellectual developmental disorder (is_a), Coffin-Siris syndrome (is_a)