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DO Term : Coffin-Siris syndrome 4 [DOID:0070046] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2.

synonyms:
OMIM:614609,
CSS4,
autosomal dominant mental retardation 16,
MRD16,
614609

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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