OBO ID: DOID:0070045
Term Name: Coffin-Siris syndrome 3 Search Ontology:
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 Coffin-Siris syndrome 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SMARCB1 Coffin-Siris syndrome 3 614608
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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