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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Coffin-Siris syndrome +     
Coffin-Siris syndrome 1  
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. (DO)
Coffin-Siris syndrome 10  
Coffin-Siris syndrome 11  
Coffin-Siris syndrome 12  
Coffin-Siris syndrome 2  
Coffin-Siris syndrome 3  
Coffin-Siris syndrome 4  
Coffin-Siris syndrome 5  
Coffin-Siris syndrome 6  
Coffin-Siris syndrome 7  
Coffin-Siris syndrome 8  
Coffin-Siris syndrome 9  

Synonyms
Exact Synonyms: ARID1B-RELATED BAFOPATHY ;   ARID1B-RELATED CONDITION ;   ARID1B-RELATED DISORDER ;   CSS1 ;   HHID ;   MRD12 ;   autosomal dominant mental retardation 12 ;   hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
Broad Synonyms: fifth digit syndrome
Primary IDs: OMIM:135900
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22405089 "DO" "DO"

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