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Ontology Browser

Term:
Coffin-Siris syndrome 1 (DOID:0070042)
Annotations: Rat: (4) Mouse: (4) Human: (4) Chinchilla: (4) Bonobo: (4) Dog: (4) Squirrel: (4) Pig: (4)
Parent Terms Term With Siblings Child Terms
autosomal dominant non-syndromic intellectual disability 27  
Coffin-Siris syndrome 1  
A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of ARID1B on chromosome 6q25.3. (DO)
Coffin-Siris Syndrome 10  
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  

Synonyms
Exact Synonyms: CSS1 ;   HHID ;   HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES ;   MRD12 ;   autosomal dominant mental retardation 12 ;   fifth digit syndrome
Primary IDs: OMIM:135900
Alternate IDs: RDO:9000538
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/22405089

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