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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Coffin-Siris syndrome +     
Coffin-Siris syndrome 1  
Coffin-Siris syndrome 10  
Coffin-Siris syndrome 11  
A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. (DO)
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: CSS11
Primary IDs: OMIM:618779
Alternate IDs: DOID:9006260
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/30879640/ "DO" "DO"

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