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DO Term : Coffin-Siris syndrome 3 [DOID:0070045] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

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

synonyms:
MRD15,
OMIM:614608,
CSS3,
614608,
autosomal dominant mental retardation 15

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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