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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
multiple synostoses syndrome 1  
multiple synostoses syndrome 2  
A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)
multiple synostoses syndrome 3  
multiple synostoses syndrome 4  

Synonyms
Exact Synonyms: SYNS2
Primary IDs: MESH:C537380
Alternate IDs: DOID:9006580 ;   MIM:610017
Xrefs: GARD:9916
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/16532400/ "DO" "DO"

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