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Ontology Browser

Term:
Coffin-Siris syndrome 2 (DOID:0070044)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (0) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
autosomal dominant non-syndromic intellectual disability 27  
Coffin-Siris syndrome 1  
Coffin-Siris Syndrome 10  
Coffin-Siris syndrome 2  
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of ARID1A on chromosome 1p36.11. (DO)
Coffin-Siris syndrome 3  
Coffin-Siris syndrome 4  
Coffin-Siris Syndrome 5  
Coffin-Siris syndrome 6  
Coffin-Siris Syndrome 7  
Coffin-Siris Syndrome 8  

Synonyms
Exact Synonyms: CSS2 ;   MRD14 ;   autosomal dominant mental retardation 14
Primary IDs: OMIM:614607
Alternate IDs: DOID:9001449 ;   RDO:9000540
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22426308

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.