Search Ontology:
Human Disease

Coffin-Siris syndrome 1

Term ID
DOID:0070042
Synonyms
  • autosomal dominant mental retardation 12
  • CSS1
  • fifth digit syndrome
  • MRD12
Definition
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. https://www.ncbi.nlm.nih.gov/pubmed/22405089
References
Ontology
Human Disease   ( DOID:0070042 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models