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 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models