OBO ID: DOID:0070042
Term Name: Coffin-Siris syndrome 1 Search Ontology:
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 Coffin-Siris syndrome 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ARID1B Coffin-Siris syndrome 1 135900
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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