Search Ontology:
Human Disease

Coffin-Siris syndrome 3

Term ID
DOID:0070045
Synonyms
  • autosomal dominant mental retardation 15
  • CSS3
  • MRD15
Definition
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. https://www.ncbi.nlm.nih.gov/pubmed/22426308
References
Ontology
Human Disease   ( DOID:0070045 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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