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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
multiple synostoses syndrome 1  
multiple synostoses syndrome 2  
multiple synostoses syndrome 3  
A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12. (DO)
multiple synostoses syndrome 4  

Synonyms
Exact Synonyms: SYNS3
Primary IDs: MESH:C567839
Alternate IDs: DOID:9002671 ;   MIM:612961
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/28730625/ "DO" "DO"

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